COCH

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1copper ion transport (GO:0006825)7.73298458
2transepithelial transport (GO:0070633)7.42053401
3opioid receptor signaling pathway (GO:0038003)6.95125234
4DNA unwinding involved in DNA replication (GO:0006268)5.79289027
5nuclear pore complex assembly (GO:0051292)5.65469289
6negative regulation of protein oligomerization (GO:0032460)5.42362632
7nuclear pore organization (GO:0006999)5.41283262
8sperm capacitation (GO:0048240)5.37402154
9DNA strand elongation involved in DNA replication (GO:0006271)5.22719735
10DNA replication checkpoint (GO:0000076)5.17639289
11DNA replication initiation (GO:0006270)5.08752124
12sensory perception of taste (GO:0050909)5.00894884
13DNA strand elongation (GO:0022616)5.00588222
14regulation of oxidative phosphorylation (GO:0002082)4.96219963
15membrane hyperpolarization (GO:0060081)4.95314879
16response to copper ion (GO:0046688)4.89024067
17regulation of female gonad development (GO:2000194)4.87987654
18tyrosine metabolic process (GO:0006570)4.78022024
19calcium-mediated signaling using intracellular calcium source (GO:0035584)4.68781910
20telomere maintenance via semi-conservative replication (GO:0032201)4.67272546
21sodium ion homeostasis (GO:0055078)4.66642704
22serotonin metabolic process (GO:0042428)4.62513944
23bicarbonate transport (GO:0015701)4.60711860
24mitotic sister chromatid segregation (GO:0000070)4.55916128
25mitotic chromosome condensation (GO:0007076)4.41021822
26negative regulation of microtubule polymerization (GO:0031115)4.36194170
27sister chromatid segregation (GO:0000819)4.35959861
28regulation of metalloenzyme activity (GO:0048552)4.32753016
29heterochromatin organization (GO:0070828)4.26487087
30regulation of somitogenesis (GO:0014807)4.26431740
31cerebellar Purkinje cell differentiation (GO:0021702)4.22890256
32axonal fasciculation (GO:0007413)4.22759120
33determination of adult lifespan (GO:0008340)4.17282939
34primary amino compound metabolic process (GO:1901160)4.14575602
35synaptic vesicle docking involved in exocytosis (GO:0016081)4.13524809
36pore complex assembly (GO:0046931)4.13451883
37regulation of translational fidelity (GO:0006450)4.13042523
38trivalent inorganic cation transport (GO:0072512)4.12597124
39ferric iron transport (GO:0015682)4.12597124
40ganglion development (GO:0061548)4.11334770
41tryptophan metabolic process (GO:0006568)4.05868748
42epithelial cell maturation (GO:0002070)4.04745942
43protein localization to kinetochore (GO:0034501)4.03755205
44telomere maintenance via recombination (GO:0000722)4.01304498
45L-serine transport (GO:0015825)3.99530776
46protein localization to chromosome, centromeric region (GO:0071459)3.93987701
47mitotic nuclear envelope disassembly (GO:0007077)3.91154168
48mitotic recombination (GO:0006312)3.89879914
49regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.89639863
50chromatin remodeling at centromere (GO:0031055)3.88075313
51regulation of intracellular pH (GO:0051453)3.83820131
52CENP-A containing nucleosome assembly (GO:0034080)3.82814794
53ATP hydrolysis coupled proton transport (GO:0015991)3.79269611
54energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)3.79269611
55G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.78129907
56purine nucleobase biosynthetic process (GO:0009113)3.74054778
57DNA replication-dependent nucleosome organization (GO:0034723)3.73408405
58DNA replication-dependent nucleosome assembly (GO:0006335)3.73408405
59antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.73326843
60antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.73326843
61negative regulation of mRNA splicing, via spliceosome (GO:0048025)3.73113163
62mitotic sister chromatid cohesion (GO:0007064)3.72698535
63adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)3.69952347
64negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class 3.69792852
65membrane disassembly (GO:0030397)3.66282736
66nuclear envelope disassembly (GO:0051081)3.66282736
67IMP biosynthetic process (GO:0006188)3.64847622
68nucleotide-excision repair, DNA gap filling (GO:0006297)3.64807833
69nucleobase biosynthetic process (GO:0046112)3.53990185
70positive regulation of CREB transcription factor activity (GO:0032793)3.53957963
71regulation of cellular pH (GO:0030641)3.52646146
72DNA replication-independent nucleosome assembly (GO:0006336)3.50245249
73DNA replication-independent nucleosome organization (GO:0034724)3.50245249
74DNA topological change (GO:0006265)3.48896796
75transferrin transport (GO:0033572)3.47418180
76cellular zinc ion homeostasis (GO:0006882)3.44044784
77chromatin assembly (GO:0031497)3.42460429
78postsynaptic membrane organization (GO:0001941)3.41750714
79serine transport (GO:0032329)3.40362554
80chromosome condensation (GO:0030261)3.39022323
81mitotic metaphase plate congression (GO:0007080)3.33904902
82chromatin assembly or disassembly (GO:0006333)3.29131633
83DNA duplex unwinding (GO:0032508)3.28609018
84DNA synthesis involved in DNA repair (GO:0000731)3.27985909
85formation of translation preinitiation complex (GO:0001731)3.27634897
86kinetochore organization (GO:0051383)3.26665645
87negative regulation of mRNA processing (GO:0050686)3.25448813
88IMP metabolic process (GO:0046040)3.23104878
89sequestering of metal ion (GO:0051238)3.22744563
90DNA packaging (GO:0006323)3.22163973
91neuron cell-cell adhesion (GO:0007158)3.21981781
92regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator 3.20623327
93excretion (GO:0007588)3.20444919
94folic acid-containing compound biosynthetic process (GO:0009396)3.20173548
95histone exchange (GO:0043486)3.19060074
96DNA conformation change (GO:0071103)3.19029381
97DNA geometric change (GO:0032392)3.19018509
98sensory perception of chemical stimulus (GO:0007606)3.18611279
99proline biosynthetic process (GO:0006561)3.16693567
100inner ear morphogenesis (GO:0042472)3.16615034
101vasodilation (GO:0042311)3.15552412
102regulation of centriole replication (GO:0046599)3.14907216
103regulation of double-strand break repair via homologous recombination (GO:0010569)3.14665336
104regulation of centrosome cycle (GO:0046605)3.14151383
105positive regulation of ion transmembrane transporter activity (GO:0032414)3.11909312
106negative regulation of RNA splicing (GO:0033119)3.11753576
107axon extension involved in axon guidance (GO:0048846)3.10934126
108neuron projection extension involved in neuron projection guidance (GO:1902284)3.10934126
109telomere maintenance via telomere lengthening (GO:0010833)3.09770419
110negative regulation of chromosome segregation (GO:0051985)3.08256483
111DNA strand renaturation (GO:0000733)3.07081934
112import into cell (GO:0098657)3.06763934
113regulation of mitochondrial translation (GO:0070129)3.05935518
114regulation of DNA endoreduplication (GO:0032875)3.05726809
115ATP-dependent chromatin remodeling (GO:0043044)3.04414262
116adenosine metabolic process (GO:0046085)3.04216325
117antigen processing and presentation of endogenous antigen (GO:0019883)3.02594238
118cellular transition metal ion homeostasis (GO:0046916)3.02189701
119establishment of integrated proviral latency (GO:0075713)2.96430858
120cellular response to oxygen radical (GO:0071450)2.96195122
121removal of superoxide radicals (GO:0019430)2.96195122
122cellular response to superoxide (GO:0071451)2.96195122
123chromosome segregation (GO:0007059)2.95214713
124negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.93272788
125negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.93272788
126negative regulation of mitotic sister chromatid segregation (GO:0033048)2.93272788
127negative regulation of mitotic sister chromatid separation (GO:2000816)2.93272788
128negative regulation of sister chromatid segregation (GO:0033046)2.93272788
129forebrain neuron development (GO:0021884)2.93024652
130negative regulation of mRNA metabolic process (GO:1903312)2.92944343
131chloride transmembrane transport (GO:1902476)2.92495482
132spindle checkpoint (GO:0031577)2.92162260
133regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.91435606
134L-serine metabolic process (GO:0006563)2.91082574
135double-strand break repair via nonhomologous end joining (GO:0006303)2.91036303
136non-recombinational repair (GO:0000726)2.91036303
137DNA ligation (GO:0006266)2.90692242
138peptidyl-arginine omega-N-methylation (GO:0035247)2.90043264
139tetrahydrofolate metabolic process (GO:0046653)2.89986095
140positive regulation of cell cycle checkpoint (GO:1901978)2.89838776
141regulation of glycogen (starch) synthase activity (GO:2000465)2.89614463
142regulation of chromosome segregation (GO:0051983)2.89531924
143translesion synthesis (GO:0019985)2.89449440
144cellular response to toxic substance (GO:0097237)2.89329952
145multicellular organismal water homeostasis (GO:0050891)2.88783782
146dendrite morphogenesis (GO:0048813)2.88335795
147nuclear envelope organization (GO:0006998)2.87731929
148ribosome assembly (GO:0042255)2.86887382
149glutamate secretion (GO:0014047)2.86776604
150inositol phosphate catabolic process (GO:0071545)2.86217677
151maturation of SSU-rRNA (GO:0030490)2.85774789
152cytidine deamination (GO:0009972)2.84084405
153cytidine metabolic process (GO:0046087)2.84084405
154cytidine catabolic process (GO:0006216)2.84084405
155viral mRNA export from host cell nucleus (GO:0046784)2.83840410
156regulation of metaphase/anaphase transition of cell cycle (GO:1902099)2.83803739
157regulation of mitotic metaphase/anaphase transition (GO:0030071)2.83803739
158vitamin transmembrane transport (GO:0035461)2.82725989
159spindle assembly checkpoint (GO:0071173)2.82356971
160tRNA aminoacylation for protein translation (GO:0006418)2.82224898
161regulation of voltage-gated calcium channel activity (GO:1901385)2.82048328
162monovalent inorganic cation homeostasis (GO:0055067)2.81814251
163mitotic spindle assembly checkpoint (GO:0007094)2.81586714
164indolalkylamine metabolic process (GO:0006586)2.81338789
165positive regulation of transporter activity (GO:0032411)2.81192455
166kinetochore assembly (GO:0051382)2.80866430
167pre-miRNA processing (GO:0031054)2.80521707
168neuron recognition (GO:0008038)2.80380824
169termination of RNA polymerase II transcription (GO:0006369)2.80100990
170mitotic spindle checkpoint (GO:0071174)2.80008490
171amino acid activation (GO:0043038)2.79531503
172tRNA aminoacylation (GO:0043039)2.79531503
173protein localization to chromosome (GO:0034502)2.78519137
174extracellular matrix assembly (GO:0085029)2.78301124
175phenylpropanoid metabolic process (GO:0009698)2.77293167
176water transport (GO:0006833)2.77202068
177positive regulation of chromosome segregation (GO:0051984)2.75620195
178phagosome maturation (GO:0090382)2.75137323
179inositol phosphate dephosphorylation (GO:0046855)2.74942341
180phosphorylated carbohydrate dephosphorylation (GO:0046838)2.74942341
181regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.74927616
182positive regulation of embryonic development (GO:0040019)2.74525786
183metaphase plate congression (GO:0051310)2.73200362
184cellular response to prostaglandin stimulus (GO:0071379)2.72787052
185ribosomal small subunit biogenesis (GO:0042274)2.72689732
186meiotic chromosome segregation (GO:0045132)2.72682900
187norepinephrine metabolic process (GO:0042415)2.72602623
188zinc ion homeostasis (GO:0055069)2.72389787
189cellular potassium ion homeostasis (GO:0030007)2.71558183
190O-glycan processing (GO:0016266)2.71332207
191glomerular visceral epithelial cell development (GO:0072015)2.70003675
192iron ion import (GO:0097286)2.69925684
193positive regulation of protein homooligomerization (GO:0032464)2.69148094
194cholesterol biosynthetic process (GO:0006695)2.68089235
195negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)2.67443418
196erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)2.66562791
197L-phenylalanine catabolic process (GO:0006559)2.66562791
198cellular monovalent inorganic cation homeostasis (GO:0030004)2.66420421
199cellular copper ion homeostasis (GO:0006878)12.4134466
200copper ion homeostasis (GO:0055070)10.0849824

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1CHD7_19251738_ChIP-ChIP_MESCs_Mouse6.02699756
2GLI1_17442700_ChIP-ChIP_MESCs_Mouse4.45116889
3E2F4_17652178_ChIP-ChIP_JURKAT_Human4.31222754
4FOXM1_23109430_ChIP-Seq_U2OS_Human4.27286952
5MYC_18555785_ChIP-Seq_MESCs_Mouse4.19904366
6HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.53996258
7FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.22605084
8EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.16031920
9KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.15099991
10GBX2_23144817_ChIP-Seq_PC3_Human3.04503231
11ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse2.87077923
12AR_21909140_ChIP-Seq_LNCAP_Human2.77021069
13TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.74463013
14MYC_19030024_ChIP-ChIP_MESCs_Mouse2.73203062
15CREB1_15753290_ChIP-ChIP_HEK293T_Human2.70083906
16MYC_18358816_ChIP-ChIP_MESCs_Mouse2.64793255
17E2F1_21310950_ChIP-Seq_MCF-7_Human2.60283060
18FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human2.56564616
19MYC_19079543_ChIP-ChIP_MESCs_Mouse2.53409465
20* KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.50895840
21MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.49227336
22THAP11_20581084_ChIP-Seq_MESCs_Mouse2.47585293
23XRN2_22483619_ChIP-Seq_HELA_Human2.43896109
24EST1_17652178_ChIP-ChIP_JURKAT_Human2.43295516
25JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.43052930
26* SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.36693363
27ETS1_20019798_ChIP-Seq_JURKAT_Human2.34423663
28MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.33984987
29ZNF217_24962896_ChIP-Seq_MCF-7_Human2.32320970
30PIAS1_25552417_ChIP-Seq_VCAP_Human2.20590891
31NELFA_20434984_ChIP-Seq_ESCs_Mouse2.17377625
32TAF15_26573619_Chip-Seq_HEK293_Human2.16812585
33POU5F1_18555785_ChIP-Seq_MESCs_Mouse2.15670204
34TTF2_22483619_ChIP-Seq_HELA_Human2.13873735
35* SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.07582009
36TP53_16413492_ChIP-PET_HCT116_Human2.06823604
37GABP_17652178_ChIP-ChIP_JURKAT_Human2.06098370
38PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.01265631
39YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.00592076
40E2F7_22180533_ChIP-Seq_HELA_Human10.9607604
41MYCN_18555785_ChIP-Seq_MESCs_Mouse1.97152812
42CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.96264169
43DCP1A_22483619_ChIP-Seq_HELA_Human1.94919810
44ZFX_18555785_ChIP-Seq_MESCs_Mouse1.91001892
45* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.90297940
46NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.89922158
47* GABP_19822575_ChIP-Seq_HepG2_Human1.88893651
48NR3C1_21868756_ChIP-Seq_MCF10A_Human1.88168497
49ESR1_21235772_ChIP-Seq_MCF-7_Human1.85989771
50* SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.85470191
51* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.83539616
52EZH2_22144423_ChIP-Seq_EOC_Human1.82554760
53E2F1_18555785_ChIP-Seq_MESCs_Mouse1.80986667
54ESR2_21235772_ChIP-Seq_MCF-7_Human1.79487080
55MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.74961385
56P53_22127205_ChIP-Seq_FIBROBLAST_Human1.71142859
57FOXP3_21729870_ChIP-Seq_TREG_Human1.67956980
58* JARID2_20075857_ChIP-Seq_MESCs_Mouse1.67781871
59* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.66824365
60TP63_19390658_ChIP-ChIP_HaCaT_Human1.66627460
61CDX2_19796622_ChIP-Seq_MESCs_Mouse1.66310098
62FOXO3_23340844_ChIP-Seq_DLD1_Human1.66217073
63* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.65985104
64PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.65972333
65ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.64598582
66KDM5A_27292631_Chip-Seq_BREAST_Human1.57434876
67RARB_27405468_Chip-Seq_BRAIN_Mouse1.56922857
68* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.51382394
69ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.50955808
70DROSHA_22980978_ChIP-Seq_HELA_Human1.50547154
71TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.49017674
72* JARID2_20064375_ChIP-Seq_MESCs_Mouse1.48655050
73CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.48224518
74CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.47235732
75HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.47035811
76* EZH2_18974828_ChIP-Seq_MESCs_Mouse1.46643225
77* RNF2_18974828_ChIP-Seq_MESCs_Mouse1.46643225
78FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.46442277
79TRIM28_21343339_ChIP-Seq_HEK293_Human1.45045478
80VDR_23849224_ChIP-Seq_CD4+_Human1.44914565
81SMAD4_21799915_ChIP-Seq_A2780_Human1.43625467
82HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.43364291
83CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.42761692
84SOX2_20726797_ChIP-Seq_SW620_Human1.42736908
85CIITA_25753668_ChIP-Seq_RAJI_Human1.42235016
86ESR1_20079471_ChIP-ChIP_T-47D_Human1.42169481
87NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.38141190
88* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.38138683
89* EED_16625203_ChIP-ChIP_MESCs_Mouse1.36579802
90BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.35091764
91HOXB4_20404135_ChIP-ChIP_EML_Mouse1.33857959
92NANOG_18555785_ChIP-Seq_MESCs_Mouse1.33692889
93YY1_21170310_ChIP-Seq_MESCs_Mouse1.32165370
94ESR1_15608294_ChIP-ChIP_MCF-7_Human1.32038597
95ELK1_19687146_ChIP-ChIP_HELA_Human1.31907082
96RBPJ_22232070_ChIP-Seq_NCS_Mouse1.30750335
97CBP_20019798_ChIP-Seq_JUKART_Human1.29833126
98IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.29833126
99AHR_22903824_ChIP-Seq_MCF-7_Human1.28521750
100ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.28097413
101ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.27443973
102CTNNB1_20460455_ChIP-Seq_HCT116_Human1.27205790
103TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.26533970
104SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.26124720
105RNF2_27304074_Chip-Seq_ESCs_Mouse1.24616419
106PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.24182289
107PADI4_21655091_ChIP-ChIP_MCF-7_Human1.23723126
108MYC_18940864_ChIP-ChIP_HL60_Human1.23638136
109AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.22050163
110CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.19953373
111MYC_27129775_Chip-Seq_CORNEA_Mouse1.18532523
112DNAJC2_21179169_ChIP-ChIP_NT2_Human1.17692666
113SUZ12_27294783_Chip-Seq_ESCs_Mouse1.17626438
114PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.17078200
115PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.16284260
116SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.14015173
117CDX2_20551321_ChIP-Seq_CACO-2_Human1.13662841
118POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.13600699
119FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.10719308
120ERG_21242973_ChIP-ChIP_JURKAT_Human1.10387497
121DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.10224991
122* KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.10151990
123CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.08997546
124ERG_20887958_ChIP-Seq_HPC-7_Mouse1.08455610
125REST_18959480_ChIP-ChIP_MESCs_Mouse1.08297633
126SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.07965210
127SALL1_21062744_ChIP-ChIP_HESCs_Human1.07515441
128NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.07071188
129NRF2_20460467_ChIP-Seq_MEFs_Mouse1.07071188
130SMAD3_21741376_ChIP-Seq_HESCs_Human1.06136096
131ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.05005955
132SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.04715611
133SRF_21415370_ChIP-Seq_HL-1_Mouse1.04179974
134LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.03733194
135KLF4_18555785_ChIP-Seq_MESCs_Mouse1.03731591
136MYC_22102868_ChIP-Seq_BL_Human1.02720638
137TDRD3_21172665_ChIP-Seq_MCF-7_Human1.02574603
138AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.02259820
139EGR1_19374776_ChIP-ChIP_THP-1_Human1.02101377
140* EZH2_27294783_Chip-Seq_ESCs_Mouse1.02076490
141FOXM1_26456572_ChIP-Seq_MCF-7_Human1.01701302
142TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human1.01299882
143CDX2_22108803_ChIP-Seq_LS180_Human0.99587315
144RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.99434420
145E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.99066698
146* KDM2B_26808549_Chip-Seq_REH_Human0.98804198
147REST_21632747_ChIP-Seq_MESCs_Mouse0.98589409
148BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.97871792
149SOX2_18555785_ChIP-Seq_MESCs_Mouse0.97596061
150ETV2_25802403_ChIP-Seq_MESCs_Mouse0.97222536
151TP53_18474530_ChIP-ChIP_U2OS_Human0.96805275
152SCL_19346495_ChIP-Seq_HPC-7_Human0.96234117
153GATA1_19941826_ChIP-Seq_K562_Human0.94626451
154SMAD4_21741376_ChIP-Seq_HESCs_Human0.93966321
155SOX9_24532713_ChIP-Seq_HFSC_Mouse0.91856590
156DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.91479631
157CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.91435101
158SOX2_27498859_Chip-Seq_STOMACH_Mouse0.91278801
159NANOG_21062744_ChIP-ChIP_HESCs_Human0.89989472
160RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.89857629
161SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.89465402
162RARG_19884340_ChIP-ChIP_MEFs_Mouse0.89051234
163* FOXA2_19822575_ChIP-Seq_HepG2_Human0.88664374
164* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88606873
165TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.88604577
166TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.87751533
167STAT3_23295773_ChIP-Seq_U87_Human0.87615823
168FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.87099889
169AUTS2_25519132_ChIP-Seq_293T-REX_Human0.87097288
170ZNF263_19887448_ChIP-Seq_K562_Human0.86501961
171TCF4_23295773_ChIP-Seq_U87_Human0.86305263
172BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.85865089
173NANOG_16153702_ChIP-ChIP_HESCs_Human0.84816870
174WT1_25993318_ChIP-Seq_PODOCYTE_Human0.84790788
175SMAD3_21741376_ChIP-Seq_ESCs_Human0.84302438
176ARNT_22903824_ChIP-Seq_MCF-7_Human0.83842815
177BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.83746303
178* TBX3_20139965_ChIP-Seq_MESCs_Mouse0.83703285
179SOX17_20123909_ChIP-Seq_XEN_Mouse0.83181064
180CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.82888934
181* TBX3_20139965_ChIP-Seq_ESCs_Mouse0.82568543
182SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.82401019
183SMAD4_21741376_ChIP-Seq_EPCs_Human0.81986246
184SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.81595441
185SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.79222162
186NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.77477907
187HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.76265051
188SOX2_16153702_ChIP-ChIP_HESCs_Human0.75740276
189POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.75458218
190CHD1_26751641_Chip-Seq_LNCaP_Human0.72908577
191FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.72742058
192TBX5_21415370_ChIP-Seq_HL-1_Mouse0.71982362
193GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.70888474
194ESR1_17901129_ChIP-ChIP_LIVER_Mouse0.70416440
195ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.70104708
196ELF1_17652178_ChIP-ChIP_JURKAT_Human0.69048567
197SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.69033727
198TFEB_21752829_ChIP-Seq_HELA_Human0.68934514
199REST_19997604_ChIP-ChIP_NEURONS_Mouse0.68514310

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002163_abnormal_gland_morphology5.70356073
2MP0001485_abnormal_pinna_reflex4.85080129
3MP0010094_abnormal_chromosome_stability4.68087687
4MP0003111_abnormal_nucleus_morphology4.39403341
5MP0003300_gastrointestinal_ulcer4.30479706
6MP0003693_abnormal_embryo_hatching3.98849998
7MP0002132_abnormal_respiratory_system3.66302060
8MP0005171_absent_coat_pigmentation3.48369942
9MP0004957_abnormal_blastocyst_morpholog3.48214603
10MP0005379_endocrine/exocrine_gland_phen3.40589161
11MP0008057_abnormal_DNA_replication3.38963714
12MP0003077_abnormal_cell_cycle3.18790162
13MP0008058_abnormal_DNA_repair3.07725279
14MP0000372_irregular_coat_pigmentation3.01982919
15MP0008932_abnormal_embryonic_tissue2.93609507
16MP0002277_abnormal_respiratory_mucosa2.69966295
17MP0003890_abnormal_embryonic-extraembry2.62012340
18MP0008872_abnormal_physiological_respon2.56165096
19MP0001177_atelectasis2.26645551
20MP0001730_embryonic_growth_arrest2.24236098
21MP0000462_abnormal_digestive_system2.24160706
22MP0008007_abnormal_cellular_replicative2.15645617
23MP0008438_abnormal_cutaneous_collagen2.14756154
24MP0003329_amyloid_beta_deposits2.09383579
25* MP0004742_abnormal_vestibular_system2.08550747
26MP0001984_abnormal_olfaction2.01143875
27MP0004885_abnormal_endolymph11.9565397
28MP0002089_abnormal_postnatal_growth/wei1.97378965
29MP0003122_maternal_imprinting1.90513694
30MP0000350_abnormal_cell_proliferation1.90297073
31MP0003315_abnormal_perineum_morphology1.88842720
32MP0003941_abnormal_skin_development1.88559602
33MP0005503_abnormal_tendon_morphology1.87653862
34MP0001672_abnormal_embryogenesis/_devel1.79480447
35MP0005380_embryogenesis_phenotype1.79480447
36MP0000613_abnormal_salivary_gland1.79205002
37MP0003123_paternal_imprinting1.78067671
38MP0003718_maternal_effect1.76070235
39MP0009697_abnormal_copulation1.74907962
40MP0003567_abnormal_fetal_cardiomyocyte1.74297559
41MP0005408_hypopigmentation1.71320919
42MP0003937_abnormal_limbs/digits/tail_de1.69064269
43MP0001697_abnormal_embryo_size1.68806477
44MP0010386_abnormal_urinary_bladder1.65246924
45MP0001529_abnormal_vocalization1.64493391
46MP0001661_extended_life_span1.64450917
47MP0005275_abnormal_skin_tensile1.64020049
48MP0002160_abnormal_reproductive_system1.61319114
49MP0008995_early_reproductive_senescence1.55027487
50MP0003786_premature_aging1.54537709
51MP0003879_abnormal_hair_cell1.52985217
52MP0000371_diluted_coat_color1.52536813
53MP0000566_synostosis1.50804497
54MP0003984_embryonic_growth_retardation1.50003558
55MP0010307_abnormal_tumor_latency1.49337680
56MP0002084_abnormal_developmental_patter1.49292420
57MP0002085_abnormal_embryonic_tissue1.48201761
58MP0002822_catalepsy1.48139650
59MP0001293_anophthalmia1.47111381
60MP0003121_genomic_imprinting1.45424791
61MP0002080_prenatal_lethality1.44545445
62MP0002088_abnormal_embryonic_growth/wei1.42873382
63* MP0001963_abnormal_hearing_physiology1.42514687
64MP0003942_abnormal_urinary_system1.39712796
65MP0003385_abnormal_body_wall1.36383018
66MP0003119_abnormal_digestive_system1.34846733
67MP0005220_abnormal_exocrine_pancreas1.32938846
68MP0006035_abnormal_mitochondrial_morpho1.32879657
69MP0009672_abnormal_birth_weight1.32677509
70MP0010030_abnormal_orbit_morphology1.31736701
71MP0002697_abnormal_eye_size1.27323796
72MP0001929_abnormal_gametogenesis1.25977818
73MP0002210_abnormal_sex_determination1.24559067
74MP0000313_abnormal_cell_death1.22090205
75MP0005187_abnormal_penis_morphology1.20691211
76MP0001286_abnormal_eye_development1.18780783
77MP0005388_respiratory_system_phenotype1.18486258
78MP0002133_abnormal_respiratory_system1.18486258
79MP0004197_abnormal_fetal_growth/weight/1.16947075
80MP0001346_abnormal_lacrimal_gland1.15277493
81MP0000604_amyloidosis1.14752421
82MP0000026_abnormal_inner_ear1.13416554
83MP0002092_abnormal_eye_morphology1.12979595
84MP0002295_abnormal_pulmonary_circulatio1.12741650
85MP0008569_lethality_at_weaning1.11656751
86MP0010234_abnormal_vibrissa_follicle1.11550500
87MP0004185_abnormal_adipocyte_glucose1.09848448
88MP0002086_abnormal_extraembryonic_tissu1.09778222
89MP0002249_abnormal_larynx_morphology1.08299306
90MP0002234_abnormal_pharynx_morphology1.06710476
91MP0001145_abnormal_male_reproductive1.04095963
92MP0003861_abnormal_nervous_system1.03900401
93MP0001663_abnormal_digestive_system1.03863540
94MP0000569_abnormal_digit_pigmentation1.02809764
95MP0002098_abnormal_vibrissa_morphology1.01822190
96MP0002877_abnormal_melanocyte_morpholog0.99950167
97MP0003698_abnormal_male_reproductive0.99361222
98MP0000678_abnormal_parathyroid_gland0.98016278
99MP0008877_abnormal_DNA_methylation0.97860673
100MP0000049_abnormal_middle_ear0.97610857
101MP0000653_abnormal_sex_gland0.97263034
102MP0002233_abnormal_nose_morphology0.96800051
103MP0001270_distended_abdomen0.96660089
104MP0003635_abnormal_synaptic_transmissio0.92627665
105MP0000537_abnormal_urethra_morphology0.90753268
106MP0002111_abnormal_tail_morphology0.89582488
107MP0002161_abnormal_fertility/fecundity0.89105082
108MP0009745_abnormal_behavioral_response0.87376771
109MP0000358_abnormal_cell_content/0.86609554
110MP0004859_abnormal_synaptic_plasticity0.86262885
111MP0003866_abnormal_defecation0.85873258
112MP0001915_intracranial_hemorrhage0.83344848
113MP0003279_aneurysm0.81508006
114MP0003935_abnormal_craniofacial_develop0.80739435
115MP0005076_abnormal_cell_differentiation0.79789213
116MP0000428_abnormal_craniofacial_morphol0.79297427
117MP0009643_abnormal_urine_homeostasis0.78930855
118MP0002009_preneoplasia0.78547220
119MP0005623_abnormal_meninges_morphology0.78272911
120MP0006036_abnormal_mitochondrial_physio0.77137849
121MP0009703_decreased_birth_body0.76221088
122MP0002064_seizures0.75939811
123MP0005389_reproductive_system_phenotype0.75325105
124MP0005646_abnormal_pituitary_gland0.74634258
125MP0001756_abnormal_urination0.74250634
126MP0002114_abnormal_axial_skeleton0.73131686
127MP0005381_digestive/alimentary_phenotyp0.71887710
128MP0004233_abnormal_muscle_weight0.71468569
129MP0000631_abnormal_neuroendocrine_gland0.71198864
130MP0008789_abnormal_olfactory_epithelium0.70832538
131MP0003699_abnormal_female_reproductive0.68647273
132MP0005499_abnormal_olfactory_system0.68516699
133MP0005394_taste/olfaction_phenotype0.68516699
134MP0003221_abnormal_cardiomyocyte_apopto0.68325733
135MP0003938_abnormal_ear_development0.68268135
136MP0003115_abnormal_respiratory_system0.68114640
137MP0002081_perinatal_lethality0.67869798
138MP0002063_abnormal_learning/memory/cond0.67815314
139MP0001188_hyperpigmentation0.67157668
140MP0004510_myositis0.66115792
141MP0002075_abnormal_coat/hair_pigmentati0.64793183
142MP0003806_abnormal_nucleotide_metabolis0.64583679
143MP0005360_urolithiasis0.64237457
144MP0003943_abnormal_hepatobiliary_system0.63463075
145MP0000003_abnormal_adipose_tissue0.61062019
146MP0001186_pigmentation_phenotype0.60526077
147MP0004043_abnormal_pH_regulation0.59689623
148MP0002933_joint_inflammation0.59231403
149MP0002229_neurodegeneration0.58323556
150MP0002572_abnormal_emotion/affect_behav0.58216294
151MP0005636_abnormal_mineral_homeostasis0.57522564
152MP0002938_white_spotting0.55599617
153MP0002168_other_aberrant_phenotype0.53549218
154MP0002066_abnormal_motor_capabilities/c0.53415185
155MP0003632_abnormal_nervous_system0.52832423
156MP0003690_abnormal_glial_cell0.52300373
157MP0002139_abnormal_hepatobiliary_system0.52158742
158MP0005174_abnormal_tail_pigmentation0.51228300
159MP0009046_muscle_twitch0.49990763
160MP0000733_abnormal_muscle_development0.48003006
161MP0001664_abnormal_digestion0.47871476
162MP0004858_abnormal_nervous_system0.47755693
163MP0001486_abnormal_startle_reflex0.47412687
164MP0001175_abnormal_lung_morphology0.45881496
165MP0002136_abnormal_kidney_physiology0.44419434
166MP0002909_abnormal_adrenal_gland0.42623333
167MP0009840_abnormal_foam_cell0.42377824
168MP0006292_abnormal_olfactory_placode0.41718071
169MP0004134_abnormal_chest_morphology0.41059559
170MP0004270_analgesia0.40891414
171MP0005167_abnormal_blood-brain_barrier0.40723471
172MP0001765_abnormal_ion_homeostasis0.39318667
173MP0005395_other_phenotype0.39285590
174MP0005410_abnormal_fertilization0.38812029
175MP0000778_abnormal_nervous_system0.38624095
176MP0002067_abnormal_sensory_capabilities0.38514028
177MP0001970_abnormal_pain_threshold0.38438801
178MP0005508_abnormal_skeleton_morphology0.37562400
179MP0004147_increased_porphyrin_level0.36808135
180MP0003631_nervous_system_phenotype0.36544893
181MP0002090_abnormal_vision0.36511157
182MP0003763_abnormal_thymus_physiology0.35885180
183MP0003633_abnormal_nervous_system0.34409550
184MP0003191_abnormal_cellular_cholesterol0.33898768
185MP0000516_abnormal_urinary_system0.32593790

Predicted human phenotypes

RankGene SetZ-score
1Hyperaldosteronism (HP:0000859)8.44254334
2Renal salt wasting (HP:0000127)8.42650357
3* Morphological abnormality of the inner ear (HP:0011390)8.33570219
4Metabolic alkalosis (HP:0200114)7.44100573
5Ileus (HP:0002595)6.51538831
6Hyperactive renin-angiotensin system (HP:0000841)6.51184506
7Hyponatremia (HP:0002902)6.25779148
8Chronic bronchitis (HP:0004469)6.20113682
9Alkalosis (HP:0001948)5.70787807
10Rectal prolapse (HP:0002035)5.48762151
11Male infertility (HP:0003251)5.45865350
12Abnormality of the right ventricle (HP:0001707)5.36391756
13Abnormality of sodium homeostasis (HP:0010931)5.28435976
14Chromosomal breakage induced by crosslinking agents (HP:0003221)5.18706478
15Tubulointerstitial fibrosis (HP:0005576)5.11460478
16Chromsome breakage (HP:0040012)5.05235091
17Decreased circulating renin level (HP:0003351)5.00749296
18Hypothermia (HP:0002045)4.79028127
19Hypokalemia (HP:0002900)4.65395578
20Hyperparathyroidism (HP:0000843)4.59228610
21Adrenal overactivity (HP:0002717)4.32093143
22Acanthocytosis (HP:0001927)3.84925219
23Tracheal stenosis (HP:0002777)3.82949768
24Hyperkalemia (HP:0002153)3.80837355
25Birth length less than 3rd percentile (HP:0003561)3.66053865
26Meckel diverticulum (HP:0002245)3.54790819
27Abnormality of potassium homeostasis (HP:0011042)3.51526444
28Polyuria (HP:0000103)3.47287265
29Abnormality of the ileum (HP:0001549)3.44446482
30Azoospermia (HP:0000027)3.40182766
31Tubulointerstitial abnormality (HP:0001969)3.37660785
32Abnormality of the renal cortex (HP:0011035)3.17616950
33Spinal muscular atrophy (HP:0007269)3.16358017
34Abnormal urine output (HP:0012590)3.16278483
35Goiter (HP:0000853)3.14894273
36Bronchiectasis (HP:0002110)3.12091740
37Abnormality of chromosome stability (HP:0003220)3.10561657
38Aplasia/Hypoplasia of the uvula (HP:0010293)3.09717337
39Cortical dysplasia (HP:0002539)3.05384553
40Pancreatic islet-cell hyperplasia (HP:0004510)3.02202304
41Reticulocytopenia (HP:0001896)2.99986686
42Abnormality of renal excretion (HP:0011036)2.90833123
43Abnormality of renin-angiotensin system (HP:0000847)2.87998435
44Abnormality of the preputium (HP:0100587)2.85187621
45Increased nuchal translucency (HP:0010880)2.77552275
46Hepatoblastoma (HP:0002884)2.74906521
47Conjugated hyperbilirubinemia (HP:0002908)2.72876942
48Osteomalacia (HP:0002749)2.70089180
49Abnormal lung lobation (HP:0002101)2.65019573
50Arterial tortuosity (HP:0005116)2.63169397
51Nephroblastoma (Wilms tumor) (HP:0002667)2.63138633
52Spontaneous hematomas (HP:0007420)2.59589085
53Deep venous thrombosis (HP:0002625)2.57546158
54Hypercalciuria (HP:0002150)2.54708080
55Embryonal renal neoplasm (HP:0011794)2.54661776
56Septate vagina (HP:0001153)2.51187108
57Absent radius (HP:0003974)2.49716633
58Small intestinal stenosis (HP:0012848)2.48104763
59Duodenal stenosis (HP:0100867)2.48104763
60Exocrine pancreatic insufficiency (HP:0001738)2.37528800
61Proximal placement of thumb (HP:0009623)2.35289465
62Abnormal spermatogenesis (HP:0008669)2.33252749
63Volvulus (HP:0002580)2.33225977
64Aplasia/Hypoplasia of the sacrum (HP:0008517)2.30622730
65Vascular tortuosity (HP:0004948)2.30228749
66Absent forearm bone (HP:0003953)2.29606502
67Aplasia involving forearm bones (HP:0009822)2.29606502
68Broad alveolar ridges (HP:0000187)2.27434772
69Hypobetalipoproteinemia (HP:0003563)2.26135574
70Hypotension (HP:0002615)2.25552212
71Irregular epiphyses (HP:0010582)2.24900898
72Horseshoe kidney (HP:0000085)2.22472045
73Myelodysplasia (HP:0002863)2.20404321
74Abnormal ventriculo-arterial connection (HP:0011563)2.19737225
75Transposition of the great arteries (HP:0001669)2.19737225
76Abnormal connection of the cardiac segments (HP:0011545)2.19737225
77Diastasis recti (HP:0001540)2.19390256
78Nephropathy (HP:0000112)2.19183485
79Bronchitis (HP:0012387)2.16864693
80Neoplasm of the thyroid gland (HP:0100031)2.16556792
81Abnormality of the carotid arteries (HP:0005344)2.15981899
82Deviation of the thumb (HP:0009603)2.14470971
83Duplication of thumb phalanx (HP:0009942)2.14090271
84Abnormality of the duodenum (HP:0002246)2.14036473
85Microvesicular hepatic steatosis (HP:0001414)2.12188446
86Triphalangeal thumb (HP:0001199)2.09946260
87Sloping forehead (HP:0000340)2.08461779
88Hypoplasia of the capital femoral epiphysis (HP:0003090)2.07363055
89Abnormality of reticulocytes (HP:0004312)2.05840756
90Glomerulosclerosis (HP:0000096)2.05724581
91Abnormal gallbladder physiology (HP:0012438)2.05402240
92Cholecystitis (HP:0001082)2.05402240
93Short middle phalanx of the 5th finger (HP:0004220)2.05265905
94Poikilocytosis (HP:0004447)2.03828734
95Embryonal neoplasm (HP:0002898)2.02928925
96* Vertigo (HP:0002321)2.00984986
97Gastrointestinal dysmotility (HP:0002579)2.00443244
98Vaginal fistula (HP:0004320)2.00198360
99* Abnormality of cochlea (HP:0000375)12.0428115
100Hypokalemic alkalosis (HP:0001949)10.6304691
101Abnormality of chloride homeostasis (HP:0011422)10.6090809
10211 pairs of ribs (HP:0000878)1.98260102
103Rectal fistula (HP:0100590)1.97179006
104Rectovaginal fistula (HP:0000143)1.97179006
105Overlapping toe (HP:0001845)1.96524941
106Impulsivity (HP:0100710)1.95980738
107Abnormality of endocrine pancreas physiology (HP:0012093)1.95786308
108Abnormality of the pancreatic islet cells (HP:0006476)1.95786308
109Choanal atresia (HP:0000453)1.93730096
110Ectopic kidney (HP:0000086)1.93630294
111Abnormality of the renal medulla (HP:0100957)1.93524613
112Truncus arteriosus (HP:0001660)1.91810528
113Absence seizures (HP:0002121)1.89891465
114Small epiphyses (HP:0010585)1.88665472
115Abnormal tarsal ossification (HP:0008369)1.88447074
116Abnormal umbilical cord blood vessels (HP:0011403)1.88438088
117Single umbilical artery (HP:0001195)1.88438088
118Abnormality of the fetal cardiovascular system (HP:0010948)1.88438088
119Facial hemangioma (HP:0000329)1.88090276
120Abnormal foot bone ossification (HP:0010675)1.87284756
121Severe visual impairment (HP:0001141)1.85293549
122Intestinal fistula (HP:0100819)1.84551649
123Prolonged partial thromboplastin time (HP:0003645)1.83885362
124Broad palm (HP:0001169)1.82754117
125Abnormality of DNA repair (HP:0003254)1.82102709
126Vascular calcification (HP:0004934)1.81049267
127Supernumerary spleens (HP:0009799)1.80628226
128Chondrocalcinosis (HP:0000934)1.80576668
129Dehydration (HP:0001944)1.79048754
130Capillary hemangiomas (HP:0005306)1.78395167
131Abnormality of methionine metabolism (HP:0010901)1.78302925
132Abnormality of chromosome segregation (HP:0002916)1.76460974
133Broad ribs (HP:0000885)1.76292937
134Atonic seizures (HP:0010819)1.76041589
135Absent epiphyses (HP:0010577)1.75969825
136Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.75969825
137Macrocytic anemia (HP:0001972)1.75890656
138Medulloblastoma (HP:0002885)1.75790714
139Multiple enchondromatosis (HP:0005701)1.75276930
140Self-mutilation (HP:0000742)1.73678060
141Cafe-au-lait spot (HP:0000957)1.73628399
142Obsessive-compulsive behavior (HP:0000722)1.73356014
143Patellar aplasia (HP:0006443)1.72866696
144Atresia of the external auditory canal (HP:0000413)1.71875762
145Abnormality of Sharpey fibers (HP:0100685)1.71616738
146Abnormal respiratory motile cilium physiology (HP:0012261)1.68546237
147Secondary amenorrhea (HP:0000869)1.68534322
148Duplicated collecting system (HP:0000081)1.68277575
149Short thumb (HP:0009778)1.67888292
150Anal stenosis (HP:0002025)1.67566908
151Progressive external ophthalmoplegia (HP:0000590)1.67004873
152Facial cleft (HP:0002006)1.66782799
153Cardiovascular calcification (HP:0011915)1.65723224
154Premature ovarian failure (HP:0008209)1.64739996
155Abnormality of the labia minora (HP:0012880)1.63995800
156High anterior hairline (HP:0009890)1.63237950
157Esophageal varix (HP:0002040)1.60303371
158Metabolic acidosis (HP:0001942)1.58830501
159Pulmonary fibrosis (HP:0002206)1.55836879
160Submucous cleft hard palate (HP:0000176)1.55543861
161Woolly hair (HP:0002224)1.54949381
162Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.51734066
163Redundant skin (HP:0001582)1.48396498
164Agitation (HP:0000713)1.46577653
165Renal tubular dysfunction (HP:0000124)1.45543684
166Dialeptic seizures (HP:0011146)1.44549510
167Generalized tonic-clonic seizures (HP:0002069)1.43710052
168Focal seizures (HP:0007359)1.40872732
169Orthostatic hypotension (HP:0001278)1.39271993
170Bifid tongue (HP:0010297)1.38742586
171Febrile seizures (HP:0002373)1.38621926
172Ureteral obstruction (HP:0006000)1.36188385
173Hyperphosphaturia (HP:0003109)1.36082514
174Excessive salivation (HP:0003781)1.32878173
175Drooling (HP:0002307)1.32878173
176Abnormal ciliary motility (HP:0012262)1.31143069
177Abnormality of transition element cation homeostasis (HP:0011030)1.30513586
178Abnormality of glycolysis (HP:0004366)1.30231134
179Increased serum pyruvate (HP:0003542)1.30231134
180Recurrent pneumonia (HP:0006532)1.29780548
181Exostoses (HP:0100777)1.29521411
182Resting tremor (HP:0002322)1.28818616
183Wormian bones (HP:0002645)1.28201008
184Focal motor seizures (HP:0011153)1.27827872
185Short humerus (HP:0005792)1.27132094
186Delayed closure of the anterior fontanelle (HP:0001476)1.27023532
187Abnormality of salivation (HP:0100755)1.24587740
188Bladder diverticulum (HP:0000015)1.21889070
189Epileptic encephalopathy (HP:0200134)1.20375116
190Abnormal number of incisors (HP:0011064)1.20287436
191Absent eyebrow (HP:0002223)1.18408907
192Right ventricular cardiomyopathy (HP:0011663)1.15146180
193Aplasia/hypoplasia of the humerus (HP:0006507)1.11980143
194Short clavicles (HP:0000894)1.11825742
195Absent eyelashes (HP:0000561)1.10319733

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDC74.24793229
2PLK43.65800698
3PRKG23.63592975
4TTK3.35136696
5CDK122.81297826
6NEK12.75686123
7WEE12.51193594
8EEF2K2.24306003
9DAPK22.16710776
10EIF2AK12.13441620
11MAP3K102.11302049
12CHEK22.10144680
13PRPF4B2.09989598
14BRSK22.00110447
15LMTK215.2689324
16PBK1.93402952
17ICK1.88938121
18TSSK61.84899611
19BRSK11.82361567
20ATR1.78030385
21PLK11.70631872
22NME21.58393997
23PNCK1.56694773
24ERBB31.53537512
25NEK21.53526666
26STK161.48899972
27CHEK11.47846072
28CDK71.43983309
29FRK1.39017396
30MKNK11.30919562
31BRAF1.30892787
32MAP3K21.25739379
33SIK31.25506665
34AURKB1.25312347
35CDK41.20521579
36ATM1.18901919
37MAP3K91.16903931
38AURKA1.15412804
39BMPR21.15200429
40CDK81.13728299
41DAPK11.12434475
42NME11.10396132
43CLK11.09941014
44SMG11.08080614
45MKNK21.02581489
46CDK20.99506356
47CAMK1G0.98815619
48CDK10.98438159
49MAPK150.91316897
50STK390.91191713
51CDK30.89868651
52RPS6KA40.89711452
53CAMK1D0.88938499
54MAP3K80.85724610
55CASK0.82347914
56RAF10.80360817
57TRIB30.79392424
58EIF2AK30.78853675
59ROCK10.78074571
60CCNB10.77328746
61SRPK10.77266805
62MAP3K40.76746393
63CSNK1E0.76596485
64ADRBK10.76263196
65TRIM280.76027764
66AKT30.75885558
67UHMK10.74910708
68STK40.74675224
69SGK20.74247154
70TAF10.73589283
71SIK20.73505799
72EPHA40.71459227
73PASK0.70631602
74ALK0.69313294
75CDK150.68909001
76VRK20.67643702
77TYRO30.66711571
78CSNK1G20.66408746
79PRKCE0.66110121
80CDK11A0.66075695
81OXSR10.65788608
82CDK180.65295725
83CSNK2A20.65171153
84NTRK30.64411615
85CSNK1A1L0.63247903
86CDK140.63083003
87NUAK10.61849499
88FGFR10.61832882
89FGFR40.60337925
90ARAF0.60246832
91SGK30.58929602
92SGK2230.58416044
93SGK4940.58416044
94CSNK2A10.57706651
95PRKDC0.57596660
96PRKAA10.57533156
97MINK10.56148978
98BMPR1B0.54779899
99EIF2AK20.54700083
100LATS10.52051392
101PLK20.51861419
102IRAK30.50886588
103CAMK40.50636593
104MAP4K20.49427075
105MARK10.49265327
106CSNK1G30.48894289
107GRK10.48420994
108DAPK30.48387971
109FER0.47805669
110MAP2K70.46178363
111SIK10.45894418
112TAOK10.45578137
113TNK20.44868587
114PKN20.44411257
115BLK0.44343028
116MAPK140.43822076
117MAP2K10.43627757
118GSK3B0.43343939
119MTOR0.43334051
120TLK10.42614288
121NTRK20.41296063
122DYRK20.39548124
123RPS6KA50.38838450
124ROCK20.36580295
125WNK40.36449857
126CDK90.36155127
127GRK60.34975482
128PRKCH0.34744831
129RPS6KB20.34493312
130BCKDK0.34130454
131MAPKAPK50.32989594
132CAMK2B0.32851069
133BUB10.32777450
134CSNK1G10.32340297
135CSNK1D0.32247392
136DYRK1A0.29604407
137HIPK20.28389306
138STK240.27555111
139PRKG10.25958952
140KSR20.25837502
141IKBKE0.25183085
142TRPM70.25095652
143MAP2K20.24276548
144RPS6KA20.24099511
145CAMK2D0.23510203
146DYRK30.22041041
147PKN10.18697916
148RIPK10.18592110
149SCYL20.17498769
150FGFR20.17363598
151CDK50.17334260
152BCR0.17211855
153PRKD10.16951720
154PRKCG0.16459361
155TBK10.16243661
156MAP3K30.16090712
157PRKCB0.15715219
158PAK10.15447517
159ZAK0.15021017
160VRK10.14726536
161PRKACG0.14176579
162CAMK2A0.13851153
163RPS6KA60.12888680
164PRKCD0.12884094
165KSR10.11594651
166NTRK10.11537805
167MAPK70.11476271
168PLK30.11463059
169ERBB20.11233502
170AKT20.10194218
171PRKCA0.10097972
172MARK20.09378900
173GRK50.09077186
174PRKACA0.08430392
175LRRK20.08386579
176BRD40.08303278
177FYN0.08272291
178FES0.08046128
179TESK10.08021277
180PIM10.06959136
181MAP3K110.06764376

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030304.93830247
2Vibrio cholerae infection_Homo sapiens_hsa051104.21780655
3Olfactory transduction_Homo sapiens_hsa047404.10800984
4Mismatch repair_Homo sapiens_hsa034303.78987267
5Taste transduction_Homo sapiens_hsa047423.55525733
6Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009703.07637386
7Synaptic vesicle cycle_Homo sapiens_hsa047212.89685911
8Collecting duct acid secretion_Homo sapiens_hsa049662.86482493
9Homologous recombination_Homo sapiens_hsa034402.81752042
10Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.76440699
11Base excision repair_Homo sapiens_hsa034102.75978142
12Cell cycle_Homo sapiens_hsa041102.72779571
13One carbon pool by folate_Homo sapiens_hsa006702.69211557
14Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049602.58818157
15Spliceosome_Homo sapiens_hsa030402.58163273
16Primary bile acid biosynthesis_Homo sapiens_hsa001202.57211946
17RNA transport_Homo sapiens_hsa030132.52087052
18Non-homologous end-joining_Homo sapiens_hsa034502.42911422
19Fanconi anemia pathway_Homo sapiens_hsa034602.39475984
20Nucleotide excision repair_Homo sapiens_hsa034202.38779862
21Sulfur metabolism_Homo sapiens_hsa009202.33737584
22Renin secretion_Homo sapiens_hsa049242.08489451
23Steroid biosynthesis_Homo sapiens_hsa001002.08180194
24Oxidative phosphorylation_Homo sapiens_hsa001902.06394737
25ABC transporters_Homo sapiens_hsa020102.01882685
26Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.99761216
27Mineral absorption_Homo sapiens_hsa049781.93922838
28Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.91046788
29Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.90969228
30Gastric acid secretion_Homo sapiens_hsa049711.89264778
31RNA polymerase_Homo sapiens_hsa030201.85469358
32Ribosome_Homo sapiens_hsa030101.79941163
33mRNA surveillance pathway_Homo sapiens_hsa030151.79136613
34Circadian entrainment_Homo sapiens_hsa047131.74746861
35Pyrimidine metabolism_Homo sapiens_hsa002401.71798919
36Bile secretion_Homo sapiens_hsa049761.56516044
37Insulin secretion_Homo sapiens_hsa049111.51383134
38Amphetamine addiction_Homo sapiens_hsa050311.50438590
39Morphine addiction_Homo sapiens_hsa050321.48818305
40Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.48466751
41Pyruvate metabolism_Homo sapiens_hsa006201.47072001
42Basal transcription factors_Homo sapiens_hsa030221.46903183
43Alzheimers disease_Homo sapiens_hsa050101.45633556
44Cholinergic synapse_Homo sapiens_hsa047251.43153693
45Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.37615404
46Sulfur relay system_Homo sapiens_hsa041221.36053622
47RNA degradation_Homo sapiens_hsa030181.35162532
48Proteasome_Homo sapiens_hsa030501.34053779
49Vitamin B6 metabolism_Homo sapiens_hsa007501.30754260
50Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.30272278
51Dopaminergic synapse_Homo sapiens_hsa047281.30170891
52Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.28693945
53Salivary secretion_Homo sapiens_hsa049701.28648675
54Parkinsons disease_Homo sapiens_hsa050121.27541588
55Long-term potentiation_Homo sapiens_hsa047201.25027017
56GABAergic synapse_Homo sapiens_hsa047271.23467663
57Carbon metabolism_Homo sapiens_hsa012001.21962739
58Selenocompound metabolism_Homo sapiens_hsa004501.19360102
59Glutamatergic synapse_Homo sapiens_hsa047241.17661236
60Glycerolipid metabolism_Homo sapiens_hsa005611.16999955
61Purine metabolism_Homo sapiens_hsa002301.11597092
62Phosphatidylinositol signaling system_Homo sapiens_hsa040701.11285538
63Oocyte meiosis_Homo sapiens_hsa041141.07869851
64Pancreatic secretion_Homo sapiens_hsa049721.06936734
65cGMP-PKG signaling pathway_Homo sapiens_hsa040221.05755989
66Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.01796399
672-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.98828498
68Lysine degradation_Homo sapiens_hsa003100.98257529
69Cocaine addiction_Homo sapiens_hsa050300.95690231
70Dorso-ventral axis formation_Homo sapiens_hsa043200.95501934
71Rheumatoid arthritis_Homo sapiens_hsa053230.95001290
72Phototransduction_Homo sapiens_hsa047440.91833363
73Serotonergic synapse_Homo sapiens_hsa047260.89517912
74N-Glycan biosynthesis_Homo sapiens_hsa005100.88496633
75Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.88305188
76Huntingtons disease_Homo sapiens_hsa050160.85987837
77Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.85285445
78Systemic lupus erythematosus_Homo sapiens_hsa053220.85158984
79Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.84756732
80Fatty acid metabolism_Homo sapiens_hsa012120.83661007
81Aldosterone synthesis and secretion_Homo sapiens_hsa049250.83517632
82Propanoate metabolism_Homo sapiens_hsa006400.82293212
83Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.82278082
84cAMP signaling pathway_Homo sapiens_hsa040240.81850935
85Cardiac muscle contraction_Homo sapiens_hsa042600.81830980
86Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.80719247
87Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.75686479
88Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.72985867
89Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.71731003
90Protein export_Homo sapiens_hsa030600.71031358
91p53 signaling pathway_Homo sapiens_hsa041150.70024763
92Pentose phosphate pathway_Homo sapiens_hsa000300.69628976
93Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.69308422
94Arginine and proline metabolism_Homo sapiens_hsa003300.69244151
95Long-term depression_Homo sapiens_hsa047300.67814460
96Gap junction_Homo sapiens_hsa045400.67129899
97Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.67007445
98Arginine biosynthesis_Homo sapiens_hsa002200.65878864
99Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.65507075
100Fatty acid biosynthesis_Homo sapiens_hsa000610.64920277
101Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.64649996
102Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.62937096
103Thyroid hormone synthesis_Homo sapiens_hsa049180.62523986
104Fat digestion and absorption_Homo sapiens_hsa049750.59351357
105Glioma_Homo sapiens_hsa052140.56809854
106Glucagon signaling pathway_Homo sapiens_hsa049220.56063177
107Fatty acid degradation_Homo sapiens_hsa000710.56001379
108Vascular smooth muscle contraction_Homo sapiens_hsa042700.54911094
109Nicotine addiction_Homo sapiens_hsa050330.54846629
110Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.54007936
111Central carbon metabolism in cancer_Homo sapiens_hsa052300.54006400
112Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.53937952
113Oxytocin signaling pathway_Homo sapiens_hsa049210.53894089
114Calcium signaling pathway_Homo sapiens_hsa040200.52972782
115Vitamin digestion and absorption_Homo sapiens_hsa049770.51441829
116Peroxisome_Homo sapiens_hsa041460.51196029
117Cyanoamino acid metabolism_Homo sapiens_hsa004600.51094981
118Metabolic pathways_Homo sapiens_hsa011000.49848143
119Non-small cell lung cancer_Homo sapiens_hsa052230.48437430
120Viral carcinogenesis_Homo sapiens_hsa052030.48194997
121MicroRNAs in cancer_Homo sapiens_hsa052060.48000525
122Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.47997469
123Melanogenesis_Homo sapiens_hsa049160.47897131
124Choline metabolism in cancer_Homo sapiens_hsa052310.47738065
125Wnt signaling pathway_Homo sapiens_hsa043100.47078086
126Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.46942625
127Endometrial cancer_Homo sapiens_hsa052130.46156657
128Tight junction_Homo sapiens_hsa045300.46127741
129Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.46070388
130Phagosome_Homo sapiens_hsa041450.45578363
131Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.45248981
132Folate biosynthesis_Homo sapiens_hsa007900.44722627
133Cysteine and methionine metabolism_Homo sapiens_hsa002700.43642636
134Estrogen signaling pathway_Homo sapiens_hsa049150.43282421
135Fructose and mannose metabolism_Homo sapiens_hsa000510.43074704
136Axon guidance_Homo sapiens_hsa043600.41825929
137Other glycan degradation_Homo sapiens_hsa005110.41741892
138Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.41601913
139Tyrosine metabolism_Homo sapiens_hsa003500.41511312
140Insulin resistance_Homo sapiens_hsa049310.40274031
141Basal cell carcinoma_Homo sapiens_hsa052170.39953597
142Thyroid cancer_Homo sapiens_hsa052160.39803393
143Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.39792976
144Pentose and glucuronate interconversions_Homo sapiens_hsa000400.39748476
145Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.39176526
146Maturity onset diabetes of the young_Homo sapiens_hsa049500.39090433
147Dilated cardiomyopathy_Homo sapiens_hsa054140.38623366
148Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.37954454
149Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.36273152
150Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.35752078
151Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.35480844
152Lysosome_Homo sapiens_hsa041420.35035515
153Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.35034707
154Biosynthesis of amino acids_Homo sapiens_hsa012300.34393217
155Salmonella infection_Homo sapiens_hsa051320.34139460
156GnRH signaling pathway_Homo sapiens_hsa049120.33680570
157Leukocyte transendothelial migration_Homo sapiens_hsa046700.32812460
158Prostate cancer_Homo sapiens_hsa052150.32694874
159Butanoate metabolism_Homo sapiens_hsa006500.32575723
160Phenylalanine metabolism_Homo sapiens_hsa003600.30742376
161Galactose metabolism_Homo sapiens_hsa000520.30686862
162Glycerophospholipid metabolism_Homo sapiens_hsa005640.30423586
163Phospholipase D signaling pathway_Homo sapiens_hsa040720.30321946
164TGF-beta signaling pathway_Homo sapiens_hsa043500.28769332
165Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.28588228
166Chronic myeloid leukemia_Homo sapiens_hsa052200.28281318
167Ras signaling pathway_Homo sapiens_hsa040140.28106193
168Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.27709269
169AMPK signaling pathway_Homo sapiens_hsa041520.27481516
170Alcoholism_Homo sapiens_hsa050340.27433824
171Bladder cancer_Homo sapiens_hsa052190.26250910
172Glutathione metabolism_Homo sapiens_hsa004800.26233324
173Hedgehog signaling pathway_Homo sapiens_hsa043400.25557685
174Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.24757324
175Sphingolipid signaling pathway_Homo sapiens_hsa040710.24481388
176Fatty acid elongation_Homo sapiens_hsa000620.24196767
177Colorectal cancer_Homo sapiens_hsa052100.23751146
178Starch and sucrose metabolism_Homo sapiens_hsa005000.23389921
179Drug metabolism - other enzymes_Homo sapiens_hsa009830.22341157
180Hippo signaling pathway_Homo sapiens_hsa043900.21211837
181Complement and coagulation cascades_Homo sapiens_hsa046100.21151625
182Epstein-Barr virus infection_Homo sapiens_hsa051690.19886567
183Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.19426478

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