ATG4C

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: Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding the same protein, have been characterized. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1axon ensheathment in central nervous system (GO:0032291)5.92096075
2central nervous system myelination (GO:0022010)5.92096075
3chromatin remodeling at centromere (GO:0031055)5.10895678
4CENP-A containing nucleosome assembly (GO:0034080)5.07627277
5chaperone-mediated protein transport (GO:0072321)4.74739052
6DNA double-strand break processing (GO:0000729)4.49730885
7synaptic vesicle exocytosis (GO:0016079)4.41620013
8neuron cell-cell adhesion (GO:0007158)4.35512732
9DNA ligation (GO:0006266)4.28877453
10histone exchange (GO:0043486)4.27647723
11cullin deneddylation (GO:0010388)4.21304664
12exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 4.21066860
13establishment of integrated proviral latency (GO:0075713)4.19309459
14presynaptic membrane organization (GO:0097090)4.17158519
15nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)4.14129155
16glutamate secretion (GO:0014047)4.10714531
17telomere maintenance via semi-conservative replication (GO:0032201)4.10545279
18presynaptic membrane assembly (GO:0097105)4.10506103
19protein deneddylation (GO:0000338)4.07719302
20synaptic vesicle maturation (GO:0016188)4.07156099
21regulation of mitotic spindle checkpoint (GO:1903504)4.05682191
22regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)4.05682191
23DNA replication checkpoint (GO:0000076)4.04396182
24proteasome assembly (GO:0043248)4.02853121
25protein neddylation (GO:0045116)4.01895259
26establishment of protein localization to mitochondrial membrane (GO:0090151)4.00909376
27protein localization to kinetochore (GO:0034501)3.96545859
28fatty acid elongation (GO:0030497)3.95522569
29negative regulation of neurotransmitter transport (GO:0051589)3.90856219
30DNA replication-independent nucleosome assembly (GO:0006336)3.85130647
31DNA replication-independent nucleosome organization (GO:0034724)3.85130647
32negative regulation of mitotic sister chromatid separation (GO:2000816)3.82618306
33negative regulation of sister chromatid segregation (GO:0033046)3.82618306
34negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.82618306
35negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.82618306
36negative regulation of mitotic sister chromatid segregation (GO:0033048)3.82618306
37regulation of synaptic vesicle exocytosis (GO:2000300)3.80538258
38regulation of short-term neuronal synaptic plasticity (GO:0048172)3.79317463
39negative regulation of neurotransmitter secretion (GO:0046929)3.78775309
40negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.75688481
41negative regulation of DNA-dependent DNA replication (GO:2000104)3.74853827
42mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.73590852
43negative regulation of chromosome segregation (GO:0051985)3.73204242
44mitotic recombination (GO:0006312)3.71537162
45DNA strand elongation involved in DNA replication (GO:0006271)3.70248891
46mitotic metaphase plate congression (GO:0007080)3.69589620
47telomere maintenance via recombination (GO:0000722)3.68734357
48mitotic spindle checkpoint (GO:0071174)3.68318622
49regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.67643809
50spindle checkpoint (GO:0031577)3.67560152
51negative regulation of synaptic transmission, GABAergic (GO:0032229)3.66921829
52positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.65223506
53oxidative phosphorylation (GO:0006119)3.61070311
54positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.59884971
55mitotic spindle assembly checkpoint (GO:0007094)3.57542693
56protein localization to synapse (GO:0035418)3.55833730
57spindle assembly checkpoint (GO:0071173)3.54117872
58neuronal action potential propagation (GO:0019227)3.53244058
59somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)3.51725278
60somatic diversification of immunoglobulins involved in immune response (GO:0002208)3.51725278
61isotype switching (GO:0045190)3.51725278
62mitotic G2/M transition checkpoint (GO:0044818)3.50734426
63anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.50530332
64DNA catabolic process, exonucleolytic (GO:0000738)3.49531673
65somatic hypermutation of immunoglobulin genes (GO:0016446)3.48419682
66somatic diversification of immune receptors via somatic mutation (GO:0002566)3.48419682
67DNA strand elongation (GO:0022616)3.47686855
68regulation of mitotic metaphase/anaphase transition (GO:0030071)3.47413802
69regulation of metaphase/anaphase transition of cell cycle (GO:1902099)3.47413802
70neurotransmitter-gated ion channel clustering (GO:0072578)3.46641335
71attachment of spindle microtubules to kinetochore (GO:0008608)3.46501832
72replication fork processing (GO:0031297)3.46198864
73gamma-aminobutyric acid signaling pathway (GO:0007214)3.45428900
74regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.44790472
75long-chain fatty acid biosynthetic process (GO:0042759)3.43973086
76energy coupled proton transport, down electrochemical gradient (GO:0015985)3.43843062
77ATP synthesis coupled proton transport (GO:0015986)3.43843062
78ensheathment of neurons (GO:0007272)3.43831626
79axon ensheathment (GO:0008366)3.43831626
80positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.42569696
81myelination (GO:0042552)3.42508103
82regulation of mitotic sister chromatid separation (GO:0010965)3.41830001
83regulation of mitotic sister chromatid segregation (GO:0033047)3.41830001
84regulation of sister chromatid segregation (GO:0033045)3.41830001
85sister chromatid segregation (GO:0000819)3.41420109
86non-recombinational repair (GO:0000726)3.39624297
87double-strand break repair via nonhomologous end joining (GO:0006303)3.39624297
88regulation of meiosis I (GO:0060631)3.39055245
89RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.37086540
90mitotic sister chromatid segregation (GO:0000070)3.36933607
91metaphase plate congression (GO:0051310)3.36030845
92nucleotide-excision repair, DNA gap filling (GO:0006297)3.33526649
93negative regulation of ligase activity (GO:0051352)3.31442059
94negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.31442059
95rRNA modification (GO:0000154)3.29941283
96L-amino acid import (GO:0043092)3.28190871
97kinetochore organization (GO:0051383)3.28060176
98establishment of viral latency (GO:0019043)3.27789632
99negative regulation of DNA recombination (GO:0045910)3.24626078
100ionotropic glutamate receptor signaling pathway (GO:0035235)3.22619602
101adult walking behavior (GO:0007628)3.20751667
102synaptic vesicle docking involved in exocytosis (GO:0016081)3.20727983
103locomotory exploration behavior (GO:0035641)3.20675512
104regulation of chromosome segregation (GO:0051983)3.19815618
105synapsis (GO:0007129)3.19555605
106regulation of synaptic vesicle transport (GO:1902803)3.18756158
107histone mRNA metabolic process (GO:0008334)3.18739810
108protein localization to chromosome, centromeric region (GO:0071459)3.18684415
109vocalization behavior (GO:0071625)3.18200749
110purine nucleobase biosynthetic process (GO:0009113)3.15953459
111rRNA methylation (GO:0031167)3.14046494
112ribosome assembly (GO:0042255)3.12274701
113IMP biosynthetic process (GO:0006188)3.11282199
114DNA topological change (GO:0006265)3.10444796
115resolution of meiotic recombination intermediates (GO:0000712)3.09054762
116mitotic G2 DNA damage checkpoint (GO:0007095)3.07952946
117synaptic transmission, glutamatergic (GO:0035249)3.07023947
118cerebellar granule cell differentiation (GO:0021707)3.06699620
119transcription elongation from RNA polymerase III promoter (GO:0006385)3.05795487
120termination of RNA polymerase III transcription (GO:0006386)3.05795487
121kinetochore assembly (GO:0051382)3.05476875
122neuron-neuron synaptic transmission (GO:0007270)3.05194780
123membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.05075113
124telomere maintenance via telomere lengthening (GO:0010833)3.04935159
125regulation of helicase activity (GO:0051095)3.04557161
126ribosomal large subunit biogenesis (GO:0042273)3.01464970
127regulation of glutamate secretion (GO:0014048)3.01310540
128negative regulation of mitosis (GO:0045839)3.00050786
129mismatch repair (GO:0006298)2.99765901
130spliceosomal snRNP assembly (GO:0000387)2.99703782
131glutamate receptor signaling pathway (GO:0007215)2.99513565
132positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.98314770
133maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.98023344
134somatic recombination of immunoglobulin gene segments (GO:0016447)2.95497464
135DNA-dependent DNA replication (GO:0006261)2.95484873
136regulation of neuronal synaptic plasticity (GO:0048168)2.93763610
137regulation of glutamate receptor signaling pathway (GO:1900449)2.93434182
138regulation of DNA endoreduplication (GO:0032875)2.92138319
139positive regulation of ligase activity (GO:0051351)2.92127020
140formation of translation preinitiation complex (GO:0001731)2.92019694
141nerve growth factor signaling pathway (GO:0038180)2.91518098
142positive regulation of membrane potential (GO:0045838)2.90591511
143neuron recognition (GO:0008038)2.86120211
144regulation of long-term neuronal synaptic plasticity (GO:0048169)2.85765509
145neurotransmitter secretion (GO:0007269)2.85348104
146response to methylmercury (GO:0051597)2.84228312
147transmission of nerve impulse (GO:0019226)2.83431948
148regulation of excitatory postsynaptic membrane potential (GO:0060079)2.82204919
149long-term synaptic potentiation (GO:0060291)2.80437981
150regulation of voltage-gated calcium channel activity (GO:1901385)2.80148722
151gamma-aminobutyric acid transport (GO:0015812)2.79756774
152regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.78476982
153cellular potassium ion homeostasis (GO:0030007)2.78448697
154establishment of mitochondrion localization (GO:0051654)2.76962332
155cerebral cortex radially oriented cell migration (GO:0021799)2.76252776
156L-phenylalanine catabolic process (GO:0006559)2.73834553
157erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)2.73834553
158regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.72764712
159glycine transport (GO:0015816)2.71029436
160negative regulation of amino acid transport (GO:0051956)2.70274080
161regulation of postsynaptic membrane potential (GO:0060078)2.67970785
162regulation of synaptic plasticity (GO:0048167)2.67339171
163regulation of beta-amyloid formation (GO:1902003)2.66448171
164regulation of amyloid precursor protein catabolic process (GO:1902991)2.66035198
165axonal fasciculation (GO:0007413)2.62941292
166apical protein localization (GO:0045176)2.62638077
167regulation of neurotransmitter secretion (GO:0046928)2.62447257
168neurotransmitter transport (GO:0006836)2.62081238
169behavioral response to cocaine (GO:0048148)2.61526441
170myelin maintenance (GO:0043217)2.61032918
171negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.59622417
172startle response (GO:0001964)2.56350590
173neuron remodeling (GO:0016322)2.56176175
174regulation of synaptic transmission, glutamatergic (GO:0051966)2.55849010
175positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.53805248
176positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.52396951
177synaptic vesicle endocytosis (GO:0048488)2.50437970
178negative regulation of synaptic transmission (GO:0050805)2.49603861
179neurotransmitter uptake (GO:0001504)2.46812075
180photoreceptor cell differentiation (GO:0046530)2.46229312
181eye photoreceptor cell differentiation (GO:0001754)2.46229312
182negative regulation of peptidyl-threonine phosphorylation (GO:0010801)2.45904567
183oligodendrocyte differentiation (GO:0048709)2.45849721
184regulation of synaptic transmission, GABAergic (GO:0032228)2.45593852
185regulation of neurotransmitter transport (GO:0051588)2.44543807
186long-term memory (GO:0007616)2.43772447
187regulation of neurotransmitter levels (GO:0001505)2.41677959
188transferrin transport (GO:0033572)2.41486124
189potassium ion import (GO:0010107)2.40158564
190vesicle docking involved in exocytosis (GO:0006904)2.39374645
191long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)2.39182112
192mating behavior (GO:0007617)2.37451361
193regulation of dendritic spine morphogenesis (GO:0061001)2.37327495
194glycerophospholipid catabolic process (GO:0046475)2.36233240
195adult locomotory behavior (GO:0008344)2.34962610
196phosphorelay signal transduction system (GO:0000160)2.34690532
197membrane hyperpolarization (GO:0060081)2.34331812
198G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.34119901
199energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)2.33920656
200ATP hydrolysis coupled proton transport (GO:0015991)2.33920656

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.07601891
2* KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.58540943
3GBX2_23144817_ChIP-Seq_PC3_Human4.20033619
4* E2F4_17652178_ChIP-ChIP_JURKAT_Human3.96943425
5EZH2_22144423_ChIP-Seq_EOC_Human3.90461406
6* GABP_17652178_ChIP-ChIP_JURKAT_Human3.67520876
7* EST1_17652178_ChIP-ChIP_JURKAT_Human3.64123915
8MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.98038120
9E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.88359377
10* ELK1_19687146_ChIP-ChIP_HELA_Human2.80068962
11MYC_18555785_ChIP-Seq_MESCs_Mouse2.70609268
12CREB1_15753290_ChIP-ChIP_HEK293T_Human2.62867123
13HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.52632304
14SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.52616406
15CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.47325612
16SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.42548538
17SALL1_21062744_ChIP-ChIP_HESCs_Human2.42387669
18VDR_23849224_ChIP-Seq_CD4+_Human2.42088516
19TAF15_26573619_Chip-Seq_HEK293_Human2.38408772
20PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.36773778
21FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.33928269
22JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.32609419
23* ETS1_20019798_ChIP-Seq_JURKAT_Human2.28230893
24* FOXP3_21729870_ChIP-Seq_TREG_Human2.26526777
25FOXM1_23109430_ChIP-Seq_U2OS_Human2.24392529
26GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.14609956
27TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.13457055
28SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.11092423
29JARID2_20064375_ChIP-Seq_MESCs_Mouse2.10282767
30* EWS_26573619_Chip-Seq_HEK293_Human2.08171277
31FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse2.06501559
32MTF2_20144788_ChIP-Seq_MESCs_Mouse2.05930982
33* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.05006531
34ZFP57_27257070_Chip-Seq_ESCs_Mouse2.02700905
35* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse2.01914390
36* NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.01183424
37EZH2_18974828_ChIP-Seq_MESCs_Mouse2.00284305
38RNF2_18974828_ChIP-Seq_MESCs_Mouse2.00284305
39SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.95465527
40REST_21632747_ChIP-Seq_MESCs_Mouse1.95129652
41HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.92413507
42SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.92243952
43* ELF1_17652178_ChIP-ChIP_JURKAT_Human1.90391879
44PADI4_21655091_ChIP-ChIP_MCF-7_Human1.89030069
45SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.88937661
46MYC_19030024_ChIP-ChIP_MESCs_Mouse1.87593488
47AR_21572438_ChIP-Seq_LNCaP_Human1.86950719
48* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.85884182
49JARID2_20075857_ChIP-Seq_MESCs_Mouse1.82691010
50HOXB4_20404135_ChIP-ChIP_EML_Mouse1.80328416
51* DROSHA_22980978_ChIP-Seq_HELA_Human1.79843420
52EZH2_27304074_Chip-Seq_ESCs_Mouse1.78110949
53* P300_19829295_ChIP-Seq_ESCs_Human1.76283720
54RARB_27405468_Chip-Seq_BRAIN_Mouse1.76086617
55MYC_19079543_ChIP-ChIP_MESCs_Mouse1.74772293
56YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.74732505
57EED_16625203_ChIP-ChIP_MESCs_Mouse1.74608327
58MYC_18940864_ChIP-ChIP_HL60_Human1.73952722
59* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.73814202
60FLI1_27457419_Chip-Seq_LIVER_Mouse1.72821806
61SUZ12_27294783_Chip-Seq_ESCs_Mouse1.72533680
62MYC_18358816_ChIP-ChIP_MESCs_Mouse1.71356468
63SRF_21415370_ChIP-Seq_HL-1_Mouse1.71174804
64RBPJ_22232070_ChIP-Seq_NCS_Mouse1.69174611
65* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.68869672
66GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.68786254
67CTBP2_25329375_ChIP-Seq_LNCAP_Human1.68035655
68EZH2_27294783_Chip-Seq_ESCs_Mouse1.67868114
69SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.65897101
70CTBP1_25329375_ChIP-Seq_LNCAP_Human1.65589079
71* SMAD4_21799915_ChIP-Seq_A2780_Human1.65179416
72DCP1A_22483619_ChIP-Seq_HELA_Human1.62731661
73RNF2_27304074_Chip-Seq_ESCs_Mouse1.62193826
74HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.62110297
75VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.61662379
76* E2F1_18555785_ChIP-Seq_MESCs_Mouse1.58768616
77EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.58106760
78CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.56785932
79PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.55853555
80PIAS1_25552417_ChIP-Seq_VCAP_Human1.55248957
81NELFA_20434984_ChIP-Seq_ESCs_Mouse1.53575948
82REST_18959480_ChIP-ChIP_MESCs_Mouse1.52591658
83PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.51986792
84CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.50742006
85* E2F1_21310950_ChIP-Seq_MCF-7_Human1.48797695
86ER_23166858_ChIP-Seq_MCF-7_Human1.48197626
87AR_21909140_ChIP-Seq_LNCAP_Human1.47479619
88TTF2_22483619_ChIP-Seq_HELA_Human1.46594364
89SMAD3_21741376_ChIP-Seq_EPCs_Human1.45603085
90* THAP11_20581084_ChIP-Seq_MESCs_Mouse1.42400012
91* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.41360354
92CDX2_19796622_ChIP-Seq_MESCs_Mouse1.40893985
93MYCN_18555785_ChIP-Seq_MESCs_Mouse1.39487193
94AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.39198176
95* STAT3_23295773_ChIP-Seq_U87_Human1.38415782
96CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.34583186
97POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.32656629
98NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.32625196
99MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.32295208
100ZNF274_21170338_ChIP-Seq_K562_Hela1.31440461
101VDR_22108803_ChIP-Seq_LS180_Human1.29791544
102NR3C1_23031785_ChIP-Seq_PC12_Mouse1.28957459
103ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.28907502
104NRF2_20460467_ChIP-Seq_MEFs_Mouse1.27421402
105NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.27421402
106IGF1R_20145208_ChIP-Seq_DFB_Human1.26671859
107GABP_19822575_ChIP-Seq_HepG2_Human1.26494147
108PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.26325430
109POU5F1_16153702_ChIP-ChIP_HESCs_Human1.23075673
110FUS_26573619_Chip-Seq_HEK293_Human1.23009118
111P53_22127205_ChIP-Seq_FIBROBLAST_Human1.22998143
112TOP2B_26459242_ChIP-Seq_MCF-7_Human1.21708039
113AR_25329375_ChIP-Seq_VCAP_Human1.20717586
114SMAD_19615063_ChIP-ChIP_OVARY_Human1.19959969
115PCGF2_27294783_Chip-Seq_ESCs_Mouse1.19457478
116ZNF217_24962896_ChIP-Seq_MCF-7_Human1.19058563
117CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.18505949
118TCF4_23295773_ChIP-Seq_U87_Human1.18043988
119NANOG_18555785_Chip-Seq_ESCs_Mouse1.17729750
120* SOX2_21211035_ChIP-Seq_LN229_Gbm1.17110583
121UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.16581157
122IRF1_19129219_ChIP-ChIP_H3396_Human1.15038673
123TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.14874028
124IKZF1_21737484_ChIP-ChIP_HCT116_Human1.14321079
125MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.12096728
126ARNT_22903824_ChIP-Seq_MCF-7_Human1.11669492
127SOX2_16153702_ChIP-ChIP_HESCs_Human1.11468747
128NANOG_16153702_ChIP-ChIP_HESCs_Human1.10473747
129ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.10123254
130NOTCH1_21737748_ChIP-Seq_TLL_Human1.09905671
131CBX2_27304074_Chip-Seq_ESCs_Mouse1.09784291
132BMI1_23680149_ChIP-Seq_NPCS_Mouse1.08904167
133CMYC_18555785_Chip-Seq_ESCs_Mouse1.08389146
134TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.08326527
135TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.07170661
136NR3C1_21868756_ChIP-Seq_MCF10A_Human1.06354223
137PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.06352878
138* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.05801514
139PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.04934629
140EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.04500034
141* XRN2_22483619_ChIP-Seq_HELA_Human1.04313659
142RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.04189293
143ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.04066708
144YY1_21170310_ChIP-Seq_MESCs_Mouse1.03863363
145EZH2_27294783_Chip-Seq_NPCs_Mouse1.03430021
146MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.01979146
147* RUNX2_22187159_ChIP-Seq_PCA_Human1.01817917
148P53_22387025_ChIP-Seq_ESCs_Mouse1.00319421
149TP53_18474530_ChIP-ChIP_U2OS_Human0.99786885
150SUZ12_18555785_Chip-Seq_ESCs_Mouse0.99786828
151AHR_22903824_ChIP-Seq_MCF-7_Human0.99674274
152E2F1_18555785_Chip-Seq_ESCs_Mouse0.99132956
153POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.98488142
154KDM2B_26808549_Chip-Seq_REH_Human0.97399431
155P300_18555785_Chip-Seq_ESCs_Mouse0.96525528
156RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.96265027
157SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.95445045
158PRDM14_20953172_ChIP-Seq_ESCs_Human0.93473284
159* SALL4_22934838_ChIP-ChIP_CD34+_Human0.92782151
160MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.91970400
161AR_19668381_ChIP-Seq_PC3_Human0.91903927
162NANOG_19829295_ChIP-Seq_ESCs_Human0.91737756
163SOX2_19829295_ChIP-Seq_ESCs_Human0.91737756
164* ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.91505414
165JUN_21703547_ChIP-Seq_K562_Human0.91429882
166TP53_22573176_ChIP-Seq_HFKS_Human0.90833515
167HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.90657737
168E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.90369746
169FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.90197811
170CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.89060083
171* ZFX_18555785_ChIP-Seq_MESCs_Mouse0.88757350
172HTT_18923047_ChIP-ChIP_STHdh_Human0.88524287
173* MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.88395271
174RNF2_27304074_Chip-Seq_NSC_Mouse0.88148983
175SUZ12_27294783_Chip-Seq_NPCs_Mouse0.88101738
176* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.87852914
177SMAD4_21741376_ChIP-Seq_EPCs_Human0.87601008
178EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.87598242
179TAL1_26923725_Chip-Seq_HPCs_Mouse0.87591944
180NFE2_27457419_Chip-Seq_LIVER_Mouse0.86952146
181* GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.84755480
182* ERG_20887958_ChIP-Seq_HPC-7_Mouse0.81200157
183CBP_20019798_ChIP-Seq_JUKART_Human0.80440110
184IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.80440110

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern4.84821882
2MP0004859_abnormal_synaptic_plasticity4.79243484
3MP0010094_abnormal_chromosome_stability4.76829386
4MP0008058_abnormal_DNA_repair4.42846382
5MP0004957_abnormal_blastocyst_morpholog3.84990175
6MP0004270_analgesia3.73656940
7MP0003693_abnormal_embryo_hatching3.69461488
8MP0008057_abnormal_DNA_replication3.44452779
9MP0008877_abnormal_DNA_methylation3.32219077
10MP0003635_abnormal_synaptic_transmissio3.18132808
11MP0002064_seizures3.05339398
12MP0000920_abnormal_myelination3.04066133
13MP0003111_abnormal_nucleus_morphology2.94160441
14MP0003077_abnormal_cell_cycle2.86067029
15MP0009745_abnormal_behavioral_response2.82747599
16MP0009046_muscle_twitch2.81541906
17MP0008007_abnormal_cellular_replicative2.68605758
18MP0002272_abnormal_nervous_system2.67510045
19MP0001486_abnormal_startle_reflex2.58962954
20MP0003718_maternal_effect2.57456156
21MP0008932_abnormal_embryonic_tissue2.51681218
22MP0002063_abnormal_learning/memory/cond2.50322094
23MP0006292_abnormal_olfactory_placode2.44418288
24MP0003690_abnormal_glial_cell2.44271126
25MP0002572_abnormal_emotion/affect_behav2.28826509
26MP0003329_amyloid_beta_deposits2.28331277
27MP0002102_abnormal_ear_morphology2.27421480
28MP0002734_abnormal_mechanical_nocicepti2.24427294
29MP0004147_increased_porphyrin_level2.20806790
30MP0003786_premature_aging2.09998315
31MP0001968_abnormal_touch/_nociception2.08219932
32MP0003806_abnormal_nucleotide_metabolis2.07025288
33MP0006072_abnormal_retinal_apoptosis2.05422123
34MP0000372_irregular_coat_pigmentation2.02166792
35MP0005551_abnormal_eye_electrophysiolog2.01538527
36MP0001529_abnormal_vocalization2.01168580
37MP0002735_abnormal_chemical_nociception1.99556089
38MP0003890_abnormal_embryonic-extraembry1.96959183
39MP0001293_anophthalmia1.92708397
40MP0009697_abnormal_copulation1.92456416
41MP0004885_abnormal_endolymph1.89838718
42MP0005171_absent_coat_pigmentation1.87986625
43MP0003567_abnormal_fetal_cardiomyocyte1.87119153
44MP0006035_abnormal_mitochondrial_morpho1.87053264
45MP0002736_abnormal_nociception_after1.84944342
46MP0003186_abnormal_redox_activity1.82098612
47MP0005423_abnormal_somatic_nervous1.80653910
48MP0006036_abnormal_mitochondrial_physio1.80515519
49MP0001440_abnormal_grooming_behavior1.80424352
50MP0002067_abnormal_sensory_capabilities1.79404981
51MP0004142_abnormal_muscle_tone1.74181950
52MP0001905_abnormal_dopamine_level1.70284953
53MP0001501_abnormal_sleep_pattern1.70024373
54MP0002229_neurodegeneration1.69739316
55MP0003633_abnormal_nervous_system1.68988142
56MP0003183_abnormal_peptide_metabolism1.68614269
57MP0004043_abnormal_pH_regulation1.65057617
58MP0005075_abnormal_melanosome_morpholog1.64737554
59MP0003634_abnormal_glial_cell1.64464036
60MP0000778_abnormal_nervous_system1.63742907
61MP0001970_abnormal_pain_threshold1.62547759
62MP0008569_lethality_at_weaning1.62043037
63MP0000604_amyloidosis1.60327808
64MP0005646_abnormal_pituitary_gland1.60037615
65MP0005386_behavior/neurological_phenoty1.51977283
66MP0004924_abnormal_behavior1.51977283
67MP0010386_abnormal_urinary_bladder1.51950073
68MP0003631_nervous_system_phenotype1.51831553
69MP0010307_abnormal_tumor_latency1.50664432
70MP0002733_abnormal_thermal_nociception1.48770488
71MP0002822_catalepsy1.47700232
72MP0009780_abnormal_chondrocyte_physiolo1.47418417
73MP0004742_abnormal_vestibular_system1.43184287
74MP0003632_abnormal_nervous_system1.42026445
75MP0003121_genomic_imprinting1.40709177
76MP0001502_abnormal_circadian_rhythm1.34421089
77* MP0002066_abnormal_motor_capabilities/c1.33819607
78MP0003950_abnormal_plasma_membrane1.33706358
79MP0002882_abnormal_neuron_morphology1.33370123
80MP0003195_calcinosis1.32883926
81MP0001929_abnormal_gametogenesis1.31009321
82MP0000955_abnormal_spinal_cord1.30298870
83MP0002210_abnormal_sex_determination1.28825264
84MP0005084_abnormal_gallbladder_morpholo1.27437324
85MP0002557_abnormal_social/conspecific_i1.25999884
86MP0008789_abnormal_olfactory_epithelium1.23901996
87MP0008995_early_reproductive_senescence1.23377302
88MP0001984_abnormal_olfaction1.23038199
89MP0000350_abnormal_cell_proliferation1.22636046
90MP0005645_abnormal_hypothalamus_physiol1.19897050
91MP0004811_abnormal_neuron_physiology1.19870514
92MP0005058_abnormal_lysosome_morphology1.19099491
93MP0003172_abnormal_lysosome_physiology1.18914496
94MP0002938_white_spotting1.18703768
95MP0002139_abnormal_hepatobiliary_system1.15905726
96MP0001145_abnormal_male_reproductive1.13759276
97MP0000653_abnormal_sex_gland1.12452167
98MP0001730_embryonic_growth_arrest1.11878142
99MP0001764_abnormal_homeostasis1.10714699
100MP0002090_abnormal_vision1.10431021
101MP0003941_abnormal_skin_development1.07843757
102MP0008875_abnormal_xenobiotic_pharmacok1.06902377
103MP0000358_abnormal_cell_content/1.06790644
104MP0005253_abnormal_eye_physiology1.06770430
105MP0002638_abnormal_pupillary_reflex1.06555705
106MP0003136_yellow_coat_color1.06547575
107MP0002095_abnormal_skin_pigmentation1.03104678
108MP0000313_abnormal_cell_death1.02558579
109MP0001963_abnormal_hearing_physiology1.02059020
110MP0001119_abnormal_female_reproductive1.01127337
111MP0002184_abnormal_innervation1.00097365
112MP0003075_altered_response_to0.99867665
113MP0005409_darkened_coat_color0.99590020
114MP0003879_abnormal_hair_cell0.99268633
115MP0001697_abnormal_embryo_size0.98293039
116MP0002233_abnormal_nose_morphology0.97978969
117MP0005174_abnormal_tail_pigmentation0.96525363
118MP0001485_abnormal_pinna_reflex0.96119118
119MP0009840_abnormal_foam_cell0.94723548
120MP0005499_abnormal_olfactory_system0.94598808
121MP0005394_taste/olfaction_phenotype0.94598808
122MP0006276_abnormal_autonomic_nervous0.94345514
123MP0005410_abnormal_fertilization0.92636176
124MP0005380_embryogenesis_phenotype0.87910103
125MP0001672_abnormal_embryogenesis/_devel0.87910103
126MP0003698_abnormal_male_reproductive0.84745244
127MP0001286_abnormal_eye_development0.84385225
128MP0000631_abnormal_neuroendocrine_gland0.83991169
129MP0001727_abnormal_embryo_implantation0.83808310
130MP0005535_abnormal_body_temperature0.83791999
131MP0002080_prenatal_lethality0.83460437
132MP0002752_abnormal_somatic_nervous0.83413159
133* MP0002019_abnormal_tumor_incidence0.83358333
134MP0003937_abnormal_limbs/digits/tail_de0.83050298
135MP0008874_decreased_physiological_sensi0.82982434
136MP0002069_abnormal_eating/drinking_beha0.82771467
137MP0002084_abnormal_developmental_patter0.82493261
138MP0003787_abnormal_imprinting0.82170415
139MP0002085_abnormal_embryonic_tissue0.81349781
140MP0005395_other_phenotype0.81208493
141MP0005195_abnormal_posterior_eye0.80513865
142MP0002160_abnormal_reproductive_system0.78177787
143MP0002909_abnormal_adrenal_gland0.77851749
144MP0002152_abnormal_brain_morphology0.77472637
145MP0002751_abnormal_autonomic_nervous0.76881417
146MP0005389_reproductive_system_phenotype0.76502411
147MP0000569_abnormal_digit_pigmentation0.76296096
148MP0008872_abnormal_physiological_respon0.76104938
149MP0001177_atelectasis0.75814944
150MP0001324_abnormal_eye_pigmentation0.75201624
151MP0005365_abnormal_bile_salt0.74997980
152MP0000647_abnormal_sebaceous_gland0.74666391
153MP0002876_abnormal_thyroid_physiology0.73739762
154MP0005391_vision/eye_phenotype0.73383756
155MP0005085_abnormal_gallbladder_physiolo0.72732949
156MP0003011_delayed_dark_adaptation0.72625585
157MP0004858_abnormal_nervous_system0.72358880
158MP0004215_abnormal_myocardial_fiber0.71297700
159MP0001299_abnormal_eye_distance/0.70688854
160MP0005408_hypopigmentation0.69558371
161MP0005332_abnormal_amino_acid0.69282780
162MP0000639_abnormal_adrenal_gland0.68107459
163MP0005083_abnormal_biliary_tract0.66977533
164MP0001188_hyperpigmentation0.65104120
165MP0000013_abnormal_adipose_tissue0.64932196
166MP0005584_abnormal_enzyme/coenzyme_acti0.63361492
167MP0003656_abnormal_erythrocyte_physiolo0.63154136
168MP0002088_abnormal_embryonic_growth/wei0.62146809
169MP0001986_abnormal_taste_sensitivity0.62033326
170MP0003122_maternal_imprinting0.61899400
171MP0009672_abnormal_birth_weight0.60556240
172MP0005367_renal/urinary_system_phenotyp0.60518430
173MP0000516_abnormal_urinary_system0.60518430
174MP0002118_abnormal_lipid_homeostasis0.60448104
175MP0003191_abnormal_cellular_cholesterol0.58931792
176MP0002396_abnormal_hematopoietic_system0.58382744
177MP0000015_abnormal_ear_pigmentation0.58143491
178MP0003984_embryonic_growth_retardation0.57865102
179MP0000049_abnormal_middle_ear0.56875512

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)5.37373618
2Neurofibrillary tangles (HP:0002185)4.55880349
3Myokymia (HP:0002411)4.37624130
4Degeneration of the lateral corticospinal tracts (HP:0002314)4.23231430
5Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)4.23231430
6Hyperventilation (HP:0002883)3.93764474
7Epileptic encephalopathy (HP:0200134)3.84122475
8Abnormality of the labia minora (HP:0012880)3.73631418
9Cerebral inclusion bodies (HP:0100314)3.53851817
10Abnormality of the corticospinal tract (HP:0002492)3.47041143
11Abnormality of chromosome stability (HP:0003220)3.47022233
12Focal seizures (HP:0007359)3.45489816
13Atonic seizures (HP:0010819)3.43032002
14Chromosomal breakage induced by crosslinking agents (HP:0003221)3.39942624
15Chromsome breakage (HP:0040012)3.38698537
16Dysmetria (HP:0001310)3.36986768
17Supranuclear gaze palsy (HP:0000605)3.34453226
18Acute necrotizing encephalopathy (HP:0006965)3.23146953
19Acute encephalopathy (HP:0006846)3.16842252
20Aplasia/Hypoplasia of the uvula (HP:0010293)3.14294715
21Meckel diverticulum (HP:0002245)3.13118714
22Ankle clonus (HP:0011448)3.12055586
23Visual hallucinations (HP:0002367)3.03095907
24Increased CSF lactate (HP:0002490)3.02147420
25Abnormality of the ileum (HP:0001549)3.01843276
26Abnormal lung lobation (HP:0002101)3.00263526
27Intention tremor (HP:0002080)2.96562054
28Colon cancer (HP:0003003)2.96420360
29Scanning speech (HP:0002168)2.94058147
30Progressive macrocephaly (HP:0004481)2.92766416
31Spastic gait (HP:0002064)2.92232160
32Abnormal mitochondria in muscle tissue (HP:0008316)2.91595880
33Mitochondrial inheritance (HP:0001427)2.90091706
34Progressive cerebellar ataxia (HP:0002073)2.89991865
35Increased hepatocellular lipid droplets (HP:0006565)2.87919307
36Pheochromocytoma (HP:0002666)2.84518385
37Hepatocellular necrosis (HP:0001404)2.81115137
38Type I transferrin isoform profile (HP:0003642)2.80162494
39Agnosia (HP:0010524)2.78606278
40Hepatic necrosis (HP:0002605)2.78555376
41Volvulus (HP:0002580)2.78005553
42Gaze-evoked nystagmus (HP:0000640)2.77140814
43Dialeptic seizures (HP:0011146)2.76197490
44Abnormality of the preputium (HP:0100587)2.75949476
45Broad-based gait (HP:0002136)2.72194100
46Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.71472562
47Absence seizures (HP:0002121)2.70669427
48Abnormality of methionine metabolism (HP:0010901)2.70502163
49Sensory axonal neuropathy (HP:0003390)2.69875467
50Peripheral hypomyelination (HP:0007182)2.69849229
51Action tremor (HP:0002345)2.69501281
52Duodenal stenosis (HP:0100867)2.65589307
53Small intestinal stenosis (HP:0012848)2.65589307
54Lipid accumulation in hepatocytes (HP:0006561)2.65240880
55Onion bulb formation (HP:0003383)2.62465361
56Generalized tonic-clonic seizures (HP:0002069)2.62209463
57Thickened helices (HP:0000391)2.55360055
58Postural instability (HP:0002172)2.54213075
59Dysdiadochokinesis (HP:0002075)2.53276433
60Febrile seizures (HP:0002373)2.53182129
61Medulloblastoma (HP:0002885)2.51158529
62Nephroblastoma (Wilms tumor) (HP:0002667)2.44969990
63Blue irides (HP:0000635)2.43911523
64Reduced antithrombin III activity (HP:0001976)2.43806948
65Slow saccadic eye movements (HP:0000514)2.42503894
66Choroideremia (HP:0001139)2.41823463
67Abnormality of aspartate family amino acid metabolism (HP:0010899)2.41702870
68Neuroendocrine neoplasm (HP:0100634)2.40572000
69Clumsiness (HP:0002312)2.38836754
70Absent speech (HP:0001344)2.37673965
71Abnormality of aromatic amino acid family metabolism (HP:0004338)2.37214664
72Methylmalonic aciduria (HP:0012120)2.37101755
73Abnormality of the duodenum (HP:0002246)2.36780957
74Generalized myoclonic seizures (HP:0002123)2.36138103
75Embryonal renal neoplasm (HP:0011794)2.35999616
76Rhabdomyosarcoma (HP:0002859)2.34117311
77Abnormal eating behavior (HP:0100738)2.33637328
78Hyperglycinemia (HP:0002154)2.31961143
79Abnormality of serum amino acid levels (HP:0003112)2.29499340
80Urinary bladder sphincter dysfunction (HP:0002839)2.28027399
81Cerebral edema (HP:0002181)2.26822562
82Akinesia (HP:0002304)2.26187075
83Methylmalonic acidemia (HP:0002912)2.24759017
84Abnormality of the anterior horn cell (HP:0006802)2.24170724
85Degeneration of anterior horn cells (HP:0002398)2.24170724
86Vaginal atresia (HP:0000148)2.23137778
87Gait imbalance (HP:0002141)2.22895428
88Spastic tetraparesis (HP:0001285)2.21976354
89Mutism (HP:0002300)2.21478804
90Clubbing of toes (HP:0100760)2.20732447
91Pancreatic islet-cell hyperplasia (HP:0004510)2.20487392
92Ependymoma (HP:0002888)2.20244859
93Increased serum lactate (HP:0002151)2.18084661
94Axonal loss (HP:0003447)2.17367449
95Excessive salivation (HP:0003781)2.16519093
96Drooling (HP:0002307)2.16519093
97Abnormality of the vitamin B12 metabolism (HP:0004341)2.15738190
98Triphalangeal thumb (HP:0001199)2.14882571
99Multiple enchondromatosis (HP:0005701)2.14781863
100Cerebral hypomyelination (HP:0006808)2.14117816
101Hypoglycemic coma (HP:0001325)2.13992515
102Sloping forehead (HP:0000340)2.13863710
103Impaired vibration sensation in the lower limbs (HP:0002166)2.13160903
104Genital tract atresia (HP:0001827)2.12893115
105Abnormal protein glycosylation (HP:0012346)2.11879682
106Abnormal glycosylation (HP:0012345)2.11879682
107Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.11879682
108Abnormal protein N-linked glycosylation (HP:0012347)2.11879682
109B lymphocytopenia (HP:0010976)2.09461568
110Termporal pattern (HP:0011008)2.09283837
111Insidious onset (HP:0003587)2.09283837
112Progressive inability to walk (HP:0002505)2.07353850
113Truncal ataxia (HP:0002078)2.06926353
114Macrocytic anemia (HP:0001972)2.06817398
115Lower limb muscle weakness (HP:0007340)2.06111396
116Exertional dyspnea (HP:0002875)2.05825637
117Neuronal loss in central nervous system (HP:0002529)2.05651902
118Anxiety (HP:0000739)2.05606347
119Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.05248093
120Decreased activity of mitochondrial respiratory chain (HP:0008972)2.05248093
121Megaloblastic anemia (HP:0001889)2.05089397
122Myelodysplasia (HP:0002863)2.04991448
123Glioma (HP:0009733)2.04218738
124Lactic acidosis (HP:0003128)2.03610356
125Birth length less than 3rd percentile (HP:0003561)2.03509199
126Molar tooth sign on MRI (HP:0002419)2.02057413
127Abnormality of midbrain morphology (HP:0002418)2.02057413
128Congenital primary aphakia (HP:0007707)2.01755199
129Alacrima (HP:0000522)2.01631532
130Poor speech (HP:0002465)2.01465828
1313-Methylglutaconic aciduria (HP:0003535)2.01386680
132Combined immunodeficiency (HP:0005387)2.00256378
133Depression (HP:0000716)1.99962402
134Aplastic anemia (HP:0001915)1.99794848
135Increased neuronal autofluorescent lipopigment (HP:0002074)1.99525329
136Abnormality of the periventricular white matter (HP:0002518)1.99477773
137Cerebral hemorrhage (HP:0001342)1.99451891
138Congenital, generalized hypertrichosis (HP:0004540)1.99333019
139Rigidity (HP:0002063)1.99303429
140Epileptiform EEG discharges (HP:0011182)1.98869241
141Limb dystonia (HP:0002451)1.98737834
142Bifid tongue (HP:0010297)1.98159497
143Neoplasm of the adrenal gland (HP:0100631)1.98128501
144Reticulocytopenia (HP:0001896)1.97648043
145Abnormality of binocular vision (HP:0011514)1.97435152
146Diplopia (HP:0000651)1.97435152
147Specific learning disability (HP:0001328)1.95832782
148Abolished electroretinogram (ERG) (HP:0000550)1.95572769
149Increased circulating renin level (HP:0000848)1.95251165
150Retinal dysplasia (HP:0007973)1.94374488
151Medial flaring of the eyebrow (HP:0010747)1.94059733
152Abnormality of saccadic eye movements (HP:0000570)1.93775664
153Increased cerebral lipofuscin (HP:0011813)1.93498180
154Abnormality of vitamin B metabolism (HP:0004340)1.92217725
155Clonus (HP:0002169)1.91543667
156Increased intramyocellular lipid droplets (HP:0012240)1.88813716
157Atrophy/Degeneration involving motor neurons (HP:0007373)1.88248052
158Nephrogenic diabetes insipidus (HP:0009806)1.87810484
159Renal Fanconi syndrome (HP:0001994)1.87748996
160Decreased central vision (HP:0007663)1.87452820
161Abnormality of alanine metabolism (HP:0010916)1.87310785
162Hyperalaninemia (HP:0003348)1.87310785
163Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.87310785
164Hypoplasia of the pons (HP:0012110)1.86932032
165Neoplasm of the oral cavity (HP:0100649)1.86569541
166Abnormality of homocysteine metabolism (HP:0010919)1.86231220
167Homocystinuria (HP:0002156)1.86231220
168Respiratory failure (HP:0002878)1.85832356
169Urinary urgency (HP:0000012)1.85426791
170Septo-optic dysplasia (HP:0100842)1.84963198
171Abnormality of B cell number (HP:0010975)1.84947847
172Gonadotropin excess (HP:0000837)1.84604166
173Neoplasm of the colon (HP:0100273)1.83775220
174Poor eye contact (HP:0000817)1.83591151
175Congenital stationary night blindness (HP:0007642)1.83244471
176Abnormal gallbladder physiology (HP:0012438)1.83182817
177Cholecystitis (HP:0001082)1.83182817
178Leukodystrophy (HP:0002415)1.83052370
179Torticollis (HP:0000473)1.82392059
180Renal cortical cysts (HP:0000803)1.82345287
181Gait ataxia (HP:0002066)1.81932677
182EEG with generalized epileptiform discharges (HP:0011198)1.81368691
183Abnormality of the pons (HP:0007361)1.80393232
184CNS demyelination (HP:0007305)1.80363377
185Bradykinesia (HP:0002067)1.80190901
186Segmental peripheral demyelination/remyelination (HP:0003481)1.80047596
187Cleft eyelid (HP:0000625)1.79000222
188Abnormality of macular pigmentation (HP:0008002)1.78257899
189Protruding tongue (HP:0010808)1.78229787
190Increased serum pyruvate (HP:0003542)1.78200863
191Abnormality of glycolysis (HP:0004366)1.78200863
192Supernumerary spleens (HP:0009799)1.77946914

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB14.08595292
2STK393.61368916
3CASK3.48122262
4OXSR13.47122353
5EPHA43.15536490
6CDC73.03590919
7CDK192.88787436
8NEK12.69624398
9MKNK12.63317326
10NUAK12.52827249
11EIF2AK32.48471053
12TTK2.48439908
13PLK42.46391876
14ZAK2.42459233
15PLK32.37491410
16NTRK32.35002140
17BRSK22.26199561
18MAP2K72.24743401
19MST42.20908687
20MKNK22.20375251
21MAP3K42.18282472
22WEE12.17460277
23PRPF4B2.12480897
24DAPK22.08547226
25EIF2AK11.99787660
26VRK11.94762342
27TRIM281.94239264
28TSSK61.91428419
29STK161.82272011
30PNCK1.80171326
31RIPK41.77405696
32NTRK11.77341572
33VRK21.77313807
34BCR1.72852317
35SRPK11.72801896
36SGK4941.71225442
37SGK2231.71225442
38ACVR1B1.67622493
39MAP4K21.64638692
40TAF11.62796102
41PAK61.62232793
42BMPR1B1.60148259
43MAP3K131.55879089
44SIK31.53594878
45WNK31.52278775
46PLK21.47128519
47MINK11.46489800
48MAPKAPK51.46390182
49WNK41.44976598
50FGFR21.44927534
51CAMK2B1.43294668
52EPHB11.42143011
53PKN11.42033232
54PLK11.41753073
55TNIK1.33512134
56PRKD31.32787202
57NEK61.32341172
58MAP2K41.31918345
59CDK51.29718009
60MARK11.28501066
61WNK11.25672657
62AKT31.21262548
63BMPR21.19870924
64BRSK11.19015957
65CDK31.17393587
66CAMK2D1.14653376
67ARAF1.13093803
68MAP3K91.11202360
69CSNK1A1L1.10064241
70CAMKK21.09313485
71CSNK1G21.07119153
72ATR1.06282390
73GRK51.06248098
74KSR21.05818475
75STK31.04536725
76INSRR1.03738692
77CAMK2A1.03163303
78CSNK1G31.02850196
79MAP3K21.01160455
80PASK1.01033624
81NTRK20.98130035
82CAMKK10.97524544
83RPS6KA40.97453058
84TAOK30.92384335
85CAMK2G0.92193716
86ERBB30.89525923
87PRKCH0.88129386
88CAMK1G0.87879681
89PRKCE0.86888350
90SGK20.85919288
91AURKB0.85488024
92CLK10.84126899
93MAP3K120.82903282
94EIF2AK20.82858013
95MAPK130.82310720
96CHEK20.81078714
97PBK0.80717237
98CDK140.80372055
99ATM0.80251185
100PDPK10.80162835
101GRK70.79578841
102NEK20.79472145
103CDK180.78947405
104TESK20.78114993
105PRKCG0.78085262
106SIK20.77545672
107MET0.77230928
108BRD40.75737909
109FGR0.74954791
110CDK150.74867744
111DYRK30.73889263
112UHMK10.73777420
113ROCK20.72341752
114FES0.71776109
115NME10.71737694
116PDK20.71684392
117CSNK1G10.70165423
118ALK0.69985082
119PTK2B0.69827492
120DAPK10.68056091
121LIMK10.67431912
122PAK30.65375038
123STK38L0.63988340
124TGFBR10.63762518
125CDK11A0.63440659
126PDK10.63334710
127SGK30.60829065
128PRKCQ0.58915969
129NLK0.57254355
130PINK10.54889506
131CSNK2A10.54212926
132FRK0.53996512
133GRK10.53850357
134SGK10.53555535
135TEC0.53500722
136CHEK10.53441778
137TXK0.52962621
138STK40.52449423
139NME20.51230866
140CSNK2A20.50732883
141PHKG20.50589887
142PHKG10.50589887
143FYN0.50457205
144CAMK10.48701837
145PRKG10.47528298
146MARK20.47425316
147RET0.47032444
148CSNK1A10.46376979
149YES10.46034902
150CCNB10.45859588
151TRPM70.45225244
152MUSK0.45006069
153DYRK20.44741381
154PRKCZ0.43555883
155MAPK120.43408264
156MAPK70.41919599
157STK110.41557662
158BCKDK0.39322665
159FLT30.38076929
160PRKDC0.37697490
161KIT0.37007061
162PRKACB0.35173832
163CDK10.33390109
164CSNK1E0.31222559
165LATS10.31164412
166RPS6KA50.30806734
167CDK70.29471118
168AURKA0.29000791
169TLK10.27614508
170CDK20.25775999
171STK240.25599239

Predicted pathways (KEGG)

RankGene SetZ-score
1Mismatch repair_Homo sapiens_hsa034304.28191296
2Non-homologous end-joining_Homo sapiens_hsa034503.86474413
3Proteasome_Homo sapiens_hsa030503.79225016
4DNA replication_Homo sapiens_hsa030303.66326622
5Protein export_Homo sapiens_hsa030603.21110515
6Nitrogen metabolism_Homo sapiens_hsa009103.09542671
7Homologous recombination_Homo sapiens_hsa034402.93369538
8Synaptic vesicle cycle_Homo sapiens_hsa047212.93121138
9Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.71623876
10Fanconi anemia pathway_Homo sapiens_hsa034602.62919183
11Nicotine addiction_Homo sapiens_hsa050332.61215376
12Ribosome_Homo sapiens_hsa030102.55293065
13RNA polymerase_Homo sapiens_hsa030202.51645225
14Parkinsons disease_Homo sapiens_hsa050122.31981590
15Nucleotide excision repair_Homo sapiens_hsa034202.29590289
16GABAergic synapse_Homo sapiens_hsa047272.23720842
17Base excision repair_Homo sapiens_hsa034102.23564646
18RNA degradation_Homo sapiens_hsa030182.18771054
19Collecting duct acid secretion_Homo sapiens_hsa049662.17868594
20RNA transport_Homo sapiens_hsa030132.13912312
21Spliceosome_Homo sapiens_hsa030402.13643440
22Basal transcription factors_Homo sapiens_hsa030222.10849039
23Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.10426870
24Glutamatergic synapse_Homo sapiens_hsa047241.99643691
25Morphine addiction_Homo sapiens_hsa050321.99630981
26Fatty acid elongation_Homo sapiens_hsa000621.97050428
27Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.94671933
28Circadian entrainment_Homo sapiens_hsa047131.89097394
29Olfactory transduction_Homo sapiens_hsa047401.87237750
30Phototransduction_Homo sapiens_hsa047441.86314718
31Cell cycle_Homo sapiens_hsa041101.84081963
32Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.77308084
33Amphetamine addiction_Homo sapiens_hsa050311.76320657
34Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.76008439
35Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.71379661
36Steroid biosynthesis_Homo sapiens_hsa001001.67469257
37Long-term potentiation_Homo sapiens_hsa047201.65943951
38Serotonergic synapse_Homo sapiens_hsa047261.61605746
39One carbon pool by folate_Homo sapiens_hsa006701.59657690
40Sulfur metabolism_Homo sapiens_hsa009201.58490148
41Salivary secretion_Homo sapiens_hsa049701.57345560
42Vibrio cholerae infection_Homo sapiens_hsa051101.55486601
43Huntingtons disease_Homo sapiens_hsa050161.54411443
44Cysteine and methionine metabolism_Homo sapiens_hsa002701.52474458
45Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.49696145
46Dopaminergic synapse_Homo sapiens_hsa047281.49678648
47Insulin secretion_Homo sapiens_hsa049111.45205615
48Pyrimidine metabolism_Homo sapiens_hsa002401.44993223
49Cocaine addiction_Homo sapiens_hsa050301.41448596
50Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.41091751
51Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.31594673
52Long-term depression_Homo sapiens_hsa047301.29431172
53Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.29326544
54Taste transduction_Homo sapiens_hsa047421.28491395
55Renin secretion_Homo sapiens_hsa049241.26661484
56Gastric acid secretion_Homo sapiens_hsa049711.22360664
57Purine metabolism_Homo sapiens_hsa002301.22107731
58SNARE interactions in vesicular transport_Homo sapiens_hsa041301.21406509
59Oocyte meiosis_Homo sapiens_hsa041141.20031788
60Cholinergic synapse_Homo sapiens_hsa047251.17669757
61Histidine metabolism_Homo sapiens_hsa003401.14101563
62Ether lipid metabolism_Homo sapiens_hsa005651.08564189
63Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.08043266
64Rheumatoid arthritis_Homo sapiens_hsa053231.06283108
65Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.04972922
66Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.04550730
67Selenocompound metabolism_Homo sapiens_hsa004501.02783068
68Axon guidance_Homo sapiens_hsa043601.02482215
69Lysosome_Homo sapiens_hsa041420.97753263
70Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.97107398
71Aldosterone synthesis and secretion_Homo sapiens_hsa049250.95763831
72Butanoate metabolism_Homo sapiens_hsa006500.95438534
73Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.94506667
74Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.91706990
75Calcium signaling pathway_Homo sapiens_hsa040200.90411984
76Asthma_Homo sapiens_hsa053100.90042682
77Phagosome_Homo sapiens_hsa041450.89633791
78Primary bile acid biosynthesis_Homo sapiens_hsa001200.87377671
79Vitamin B6 metabolism_Homo sapiens_hsa007500.86600598
80Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.85782481
81Folate biosynthesis_Homo sapiens_hsa007900.85430148
82Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.83632063
83mRNA surveillance pathway_Homo sapiens_hsa030150.82825486
84Oxytocin signaling pathway_Homo sapiens_hsa049210.82785169
85Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.81972378
86Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.80522295
87Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.77856589
88Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.77856531
89Type II diabetes mellitus_Homo sapiens_hsa049300.75821520
90Arginine biosynthesis_Homo sapiens_hsa002200.75548713
91Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.74818672
92cAMP signaling pathway_Homo sapiens_hsa040240.73995360
93Prion diseases_Homo sapiens_hsa050200.73681089
94Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.71945069
95Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.71399157
96Glutathione metabolism_Homo sapiens_hsa004800.71303524
97Phosphatidylinositol signaling system_Homo sapiens_hsa040700.71216802
98Pancreatic secretion_Homo sapiens_hsa049720.69574287
992-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.69357834
100Sphingolipid metabolism_Homo sapiens_hsa006000.69061799
101ErbB signaling pathway_Homo sapiens_hsa040120.68245024
102p53 signaling pathway_Homo sapiens_hsa041150.67669505
103Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.66366263
104Gap junction_Homo sapiens_hsa045400.66010433
105Dorso-ventral axis formation_Homo sapiens_hsa043200.65795577
106Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.63713814
107Peroxisome_Homo sapiens_hsa041460.61343475
108Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.60388156
109Vascular smooth muscle contraction_Homo sapiens_hsa042700.59897096
110Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.59837432
111Bile secretion_Homo sapiens_hsa049760.59175839
112Metabolic pathways_Homo sapiens_hsa011000.59101970
113Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.58193907
114Carbon metabolism_Homo sapiens_hsa012000.57196645
115Propanoate metabolism_Homo sapiens_hsa006400.56640353
116GnRH signaling pathway_Homo sapiens_hsa049120.56261949
117Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.52872092
118Pyruvate metabolism_Homo sapiens_hsa006200.52568686
119Mineral absorption_Homo sapiens_hsa049780.50267853
120Ras signaling pathway_Homo sapiens_hsa040140.48908908
121Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.47424222
122Oxidative phosphorylation_Homo sapiens_hsa001900.47024074
123cGMP-PKG signaling pathway_Homo sapiens_hsa040220.45135525
124Epstein-Barr virus infection_Homo sapiens_hsa051690.44389786
125Sphingolipid signaling pathway_Homo sapiens_hsa040710.42960654
126Staphylococcus aureus infection_Homo sapiens_hsa051500.42804216
127Caffeine metabolism_Homo sapiens_hsa002320.42771988
128Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.42092145
129ABC transporters_Homo sapiens_hsa020100.41115234
130African trypanosomiasis_Homo sapiens_hsa051430.41007518
131MAPK signaling pathway_Homo sapiens_hsa040100.40998475
132Carbohydrate digestion and absorption_Homo sapiens_hsa049730.40812352
133Alzheimers disease_Homo sapiens_hsa050100.40725262
134Arginine and proline metabolism_Homo sapiens_hsa003300.40714972
135Fatty acid metabolism_Homo sapiens_hsa012120.40701547
136Cardiac muscle contraction_Homo sapiens_hsa042600.39890210
137Phospholipase D signaling pathway_Homo sapiens_hsa040720.38920689
138Glycerophospholipid metabolism_Homo sapiens_hsa005640.38430601
139Pentose and glucuronate interconversions_Homo sapiens_hsa000400.38300547
140Endocytosis_Homo sapiens_hsa041440.38182841
141Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.37868451
142Type I diabetes mellitus_Homo sapiens_hsa049400.37493186
143Systemic lupus erythematosus_Homo sapiens_hsa053220.37459596
144Tryptophan metabolism_Homo sapiens_hsa003800.36958776
145* Regulation of autophagy_Homo sapiens_hsa041400.36176953
146Inositol phosphate metabolism_Homo sapiens_hsa005620.35680673
147Thyroid hormone synthesis_Homo sapiens_hsa049180.35331069
148Vitamin digestion and absorption_Homo sapiens_hsa049770.34824939
149Maturity onset diabetes of the young_Homo sapiens_hsa049500.34768078
150Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.33415193
151Fatty acid degradation_Homo sapiens_hsa000710.33397313
152Ovarian steroidogenesis_Homo sapiens_hsa049130.32790517
153Biosynthesis of amino acids_Homo sapiens_hsa012300.31186722
154N-Glycan biosynthesis_Homo sapiens_hsa005100.29139901
155Antigen processing and presentation_Homo sapiens_hsa046120.27553340
156beta-Alanine metabolism_Homo sapiens_hsa004100.27365679
157Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.20053006
158Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.18098431
159Linoleic acid metabolism_Homo sapiens_hsa005910.17044820
160Allograft rejection_Homo sapiens_hsa053300.16647892
161Retinol metabolism_Homo sapiens_hsa008300.16172227
162Legionellosis_Homo sapiens_hsa051340.16111834
163Arachidonic acid metabolism_Homo sapiens_hsa005900.15430008
164Autoimmune thyroid disease_Homo sapiens_hsa053200.15420241
165Drug metabolism - other enzymes_Homo sapiens_hsa009830.14833530
166Primary immunodeficiency_Homo sapiens_hsa053400.14574942
167Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.12724486
168Intestinal immune network for IgA production_Homo sapiens_hsa046720.12566087

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