TCTN3

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: This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1neuron cell-cell adhesion (GO:0007158)4.71885289
2cullin deneddylation (GO:0010388)4.45537193
3synaptic vesicle exocytosis (GO:0016079)4.44483685
4regulation of short-term neuronal synaptic plasticity (GO:0048172)4.41075369
5protein deneddylation (GO:0000338)4.31388160
6positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.29334231
7protein localization to synapse (GO:0035418)4.20023117
8vocalization behavior (GO:0071625)4.16702296
9transmission of nerve impulse (GO:0019226)4.09424085
10regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.02392380
11presynaptic membrane assembly (GO:0097105)3.91827189
12proteasome assembly (GO:0043248)3.82364011
13gamma-aminobutyric acid signaling pathway (GO:0007214)3.71758530
14detection of calcium ion (GO:0005513)3.69061992
15positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.68754088
16establishment of protein localization to mitochondrial membrane (GO:0090151)3.68678383
17regulation of synaptic vesicle exocytosis (GO:2000300)3.64552481
18regulation of glutamate receptor signaling pathway (GO:1900449)3.64374537
19presynaptic membrane organization (GO:0097090)3.61703864
20neuron recognition (GO:0008038)3.61143396
21protein maturation by protein folding (GO:0022417)3.54461823
22neuronal action potential propagation (GO:0019227)3.52212663
23COPI coating of Golgi vesicle (GO:0048205)3.48353754
24Golgi transport vesicle coating (GO:0048200)3.48353754
25negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.44622161
26glutamate receptor signaling pathway (GO:0007215)3.41967364
27ionotropic glutamate receptor signaling pathway (GO:0035235)3.40965955
28mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.37422781
29neuron-neuron synaptic transmission (GO:0007270)3.37417037
30regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.36996326
31ribosome assembly (GO:0042255)3.36823813
32glutamate secretion (GO:0014047)3.36257782
33long-term synaptic potentiation (GO:0060291)3.33898414
34synaptic transmission, glutamatergic (GO:0035249)3.32297928
35regulation of synapse structural plasticity (GO:0051823)3.28204331
36regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.27905097
37regulation of mitochondrial translation (GO:0070129)3.27805225
38synaptic vesicle endocytosis (GO:0048488)3.26477753
39negative regulation of neurotransmitter transport (GO:0051589)3.26324716
40ATP synthesis coupled proton transport (GO:0015986)3.24978985
41energy coupled proton transport, down electrochemical gradient (GO:0015985)3.24978985
42axonal fasciculation (GO:0007413)3.24242442
43mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.24163258
44postsynaptic membrane organization (GO:0001941)3.23291919
45synaptic vesicle maturation (GO:0016188)3.22699202
46positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.22496441
47branched-chain amino acid catabolic process (GO:0009083)3.21175493
48energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)3.19124002
49ATP hydrolysis coupled proton transport (GO:0015991)3.19124002
50negative regulation of ligase activity (GO:0051352)3.18423636
51negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.18423636
52regulation of vesicle fusion (GO:0031338)3.17888495
53regulation of cellular amino acid metabolic process (GO:0006521)3.17060818
54respiratory chain complex IV assembly (GO:0008535)3.15975184
55synaptic vesicle docking involved in exocytosis (GO:0016081)3.15924363
56locomotory exploration behavior (GO:0035641)3.14479031
57regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.12994195
58negative regulation of synaptic transmission, GABAergic (GO:0032229)3.12349934
59regulation of protein kinase A signaling (GO:0010738)3.09186288
60regulation of neuronal synaptic plasticity (GO:0048168)3.08206424
61transferrin transport (GO:0033572)3.07879263
62anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.07766114
63regulation of synaptic vesicle transport (GO:1902803)3.07155970
64response to histamine (GO:0034776)3.06130169
65positive regulation of membrane potential (GO:0045838)3.05599277
66exploration behavior (GO:0035640)3.02217899
67regulation of long-term neuronal synaptic plasticity (GO:0048169)3.00414040
68neurotransmitter secretion (GO:0007269)3.00001120
69dendritic spine morphogenesis (GO:0060997)2.99888131
70striatum development (GO:0021756)2.99730086
71chaperone-mediated protein transport (GO:0072321)2.99701800
72central nervous system myelination (GO:0022010)2.98011362
73axon ensheathment in central nervous system (GO:0032291)2.98011362
74mannosylation (GO:0097502)2.95921305
75establishment of integrated proviral latency (GO:0075713)2.95838543
76dolichol-linked oligosaccharide biosynthetic process (GO:0006488)2.95739251
77regulation of catecholamine metabolic process (GO:0042069)2.95388507
78regulation of dopamine metabolic process (GO:0042053)2.95388507
79regulation of excitatory postsynaptic membrane potential (GO:0060079)2.95046763
80behavioral response to cocaine (GO:0048148)2.93516382
81DNA damage response, detection of DNA damage (GO:0042769)2.92216743
82axoneme assembly (GO:0035082)2.91392285
83amino acid activation (GO:0043038)2.90645253
84tRNA aminoacylation (GO:0043039)2.90645253
85regulation of postsynaptic membrane potential (GO:0060078)2.89335071
86G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.88714376
87tricarboxylic acid cycle (GO:0006099)2.88093683
88positive regulation of neurotransmitter secretion (GO:0001956)2.88008155
89negative regulation of neurotransmitter secretion (GO:0046929)2.87533839
90tRNA aminoacylation for protein translation (GO:0006418)2.86513705
91spliceosomal snRNP assembly (GO:0000387)2.85281207
92protein localization to cilium (GO:0061512)2.85054324
93long-term memory (GO:0007616)2.84854688
94DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.84419285
95positive regulation of neurotransmitter transport (GO:0051590)2.82449583
96aldehyde catabolic process (GO:0046185)2.82033056
97signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.81866314
98signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.81866314
99signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.81866314
100ferric iron transport (GO:0015682)2.79971991
101trivalent inorganic cation transport (GO:0072512)2.79971991
102fear response (GO:0042596)2.79740760
103signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.79336038
104intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.79336038
105establishment of viral latency (GO:0019043)2.76703793
106innervation (GO:0060384)2.76542051
107cytochrome complex assembly (GO:0017004)2.75314531
108ER overload response (GO:0006983)2.75046254
109DNA double-strand break processing (GO:0000729)2.74750804
110regulation of synaptic plasticity (GO:0048167)2.74390231
111regulation of glutamate secretion (GO:0014048)2.73340035
112behavioral fear response (GO:0001662)2.73071878
113behavioral defense response (GO:0002209)2.73071878
114regulation of neurotransmitter secretion (GO:0046928)2.72388272
115membrane hyperpolarization (GO:0060081)2.72109786
116cholesterol biosynthetic process (GO:0006695)2.70287281
117signal transduction involved in DNA damage checkpoint (GO:0072422)2.70053192
118signal transduction involved in DNA integrity checkpoint (GO:0072401)2.70053192
119neurotransmitter transport (GO:0006836)2.69135491
120establishment of synaptic vesicle localization (GO:0097480)2.68974931
121synaptic vesicle transport (GO:0048489)2.68974931
122sterol biosynthetic process (GO:0016126)2.68306334
123G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.67719555
124protein complex biogenesis (GO:0070271)2.67716264
125C-terminal protein lipidation (GO:0006501)2.67468247
126pteridine-containing compound biosynthetic process (GO:0042559)2.67407496
127intraciliary transport (GO:0042073)2.66786898
128layer formation in cerebral cortex (GO:0021819)2.66647347
129neuronal ion channel clustering (GO:0045161)2.66355043
130signal transduction involved in cell cycle checkpoint (GO:0072395)2.65178686
131positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.65009040
132membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.64838322
133platelet dense granule organization (GO:0060155)2.64649520
134mRNA cleavage (GO:0006379)2.63933001
135cochlea development (GO:0090102)2.63777673
136long-chain fatty acid biosynthetic process (GO:0042759)2.63411428
137negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.62997057
138mitochondrial respiratory chain complex assembly (GO:0033108)2.62576671
139regulation of voltage-gated calcium channel activity (GO:1901385)2.62467202
140positive regulation of synapse assembly (GO:0051965)2.62100665
141regulation of dendritic spine morphogenesis (GO:0061001)2.62035128
142synaptic transmission, dopaminergic (GO:0001963)2.61991704
143regulation of synaptic transmission, glutamatergic (GO:0051966)2.61598560
144learning (GO:0007612)2.60664483
145calcium-mediated signaling using intracellular calcium source (GO:0035584)2.60549855
146calcium ion-dependent exocytosis (GO:0017156)2.60532787
147rRNA modification (GO:0000154)2.59994176
148gamma-aminobutyric acid transport (GO:0015812)2.58956184
149cilium movement (GO:0003341)2.58576074
150tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.57384638
151RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.57384638
152positive regulation of synaptic transmission, GABAergic (GO:0032230)2.56541635
153L-serine metabolic process (GO:0006563)2.54561996
154preassembly of GPI anchor in ER membrane (GO:0016254)2.54240362
155mitochondrial DNA replication (GO:0006264)2.54030027
1567-methylguanosine mRNA capping (GO:0006370)2.53458194
157nucleotide transmembrane transport (GO:1901679)2.53438982
158ribosomal small subunit assembly (GO:0000028)2.53411259
159lactate metabolic process (GO:0006089)2.51705722
160positive regulation of ligase activity (GO:0051351)2.50837840
161peptidyl-histidine modification (GO:0018202)2.48449391
162mitotic metaphase plate congression (GO:0007080)2.48230785
163nucleobase biosynthetic process (GO:0046112)2.48123226
164GTP biosynthetic process (GO:0006183)2.46891198
165RNA capping (GO:0036260)2.45105562
1667-methylguanosine RNA capping (GO:0009452)2.45105562
167UTP biosynthetic process (GO:0006228)2.44457152
168regulation of ubiquitin-protein transferase activity (GO:0051438)2.43906906
169C-terminal protein amino acid modification (GO:0018410)2.42525494
170regulation of cilium movement (GO:0003352)2.41846951
171metaphase plate congression (GO:0051310)2.41812245
172CTP metabolic process (GO:0046036)2.41157325
173CTP biosynthetic process (GO:0006241)2.41157325
174rRNA methylation (GO:0031167)2.40110780
175ubiquinone metabolic process (GO:0006743)2.39839538
176pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209)2.39717951
177mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.39147363
178mitochondrial respiratory chain complex I assembly (GO:0032981)2.39147363
179NADH dehydrogenase complex assembly (GO:0010257)2.39147363
180pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)2.37919430
181transcription elongation from RNA polymerase III promoter (GO:0006385)2.37145634
182termination of RNA polymerase III transcription (GO:0006386)2.37145634
183COPII vesicle coating (GO:0048208)2.36518341
184response to redox state (GO:0051775)2.35972387
185purine nucleobase biosynthetic process (GO:0009113)2.34133199
186type B pancreatic cell proliferation (GO:0044342)2.33884294
187positive regulation of actin filament depolymerization (GO:0030836)2.33698832
188regulation of ligase activity (GO:0051340)2.32840846
189histone mRNA metabolic process (GO:0008334)2.32413883
190folic acid-containing compound biosynthetic process (GO:0009396)2.31365467
191water-soluble vitamin biosynthetic process (GO:0042364)2.31338267
192transcription-coupled nucleotide-excision repair (GO:0006283)2.30682796
193UTP metabolic process (GO:0046051)2.30446857
194pyrimidine ribonucleoside triphosphate metabolic process (GO:0009208)2.29644008
195non-recombinational repair (GO:0000726)2.29181014

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.72333945
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human5.01594966
3GABP_17652178_ChIP-ChIP_JURKAT_Human4.37226100
4GBX2_23144817_ChIP-Seq_PC3_Human3.81352183
5EST1_17652178_ChIP-ChIP_JURKAT_Human3.56679085
6JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.41659790
7CREB1_15753290_ChIP-ChIP_HEK293T_Human3.32295871
8MYC_18555785_ChIP-Seq_MESCs_Mouse3.00560960
9ELK1_19687146_ChIP-ChIP_HELA_Human2.99566241
10NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.90844137
11SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.76343419
12E2F7_22180533_ChIP-Seq_HELA_Human2.75125283
13HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.73824598
14ETS1_20019798_ChIP-Seq_JURKAT_Human2.72672220
15CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.67435493
16REST_21632747_ChIP-Seq_MESCs_Mouse2.64224207
17JARID2_20064375_ChIP-Seq_MESCs_Mouse2.62873438
18CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.56739230
19SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.56606094
20TAF15_26573619_Chip-Seq_HEK293_Human2.46758093
21PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.38740427
22E2F4_17652178_ChIP-ChIP_JURKAT_Human2.34597964
23EZH2_27304074_Chip-Seq_ESCs_Mouse2.32511969
24SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.29569588
25SRF_21415370_ChIP-Seq_HL-1_Mouse2.27996742
26* VDR_23849224_ChIP-Seq_CD4+_Human2.27642210
27REST_18959480_ChIP-ChIP_MESCs_Mouse2.23893486
28SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.22908941
29SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.20137542
30JARID2_20075857_ChIP-Seq_MESCs_Mouse2.20052260
31SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.19253327
32CTBP2_25329375_ChIP-Seq_LNCAP_Human2.18536579
33MYC_19030024_ChIP-ChIP_MESCs_Mouse2.18384531
34E2F1_18555785_ChIP-Seq_MESCs_Mouse2.17062661
35IGF1R_20145208_ChIP-Seq_DFB_Human2.16262015
36RARB_27405468_Chip-Seq_BRAIN_Mouse2.16057717
37MTF2_20144788_ChIP-Seq_MESCs_Mouse2.15639861
38DCP1A_22483619_ChIP-Seq_HELA_Human2.14995083
39NELFA_20434984_ChIP-Seq_ESCs_Mouse2.13910379
40SALL1_21062744_ChIP-ChIP_HESCs_Human2.13798340
41MYC_18358816_ChIP-ChIP_MESCs_Mouse2.13794251
42CTBP1_25329375_ChIP-Seq_LNCAP_Human2.13442172
43PADI4_21655091_ChIP-ChIP_MCF-7_Human2.11459574
44NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.09428409
45ELF1_17652178_ChIP-ChIP_JURKAT_Human2.06071347
46RNF2_18974828_ChIP-Seq_MESCs_Mouse2.05241733
47EZH2_18974828_ChIP-Seq_MESCs_Mouse2.05241733
48GABP_19822575_ChIP-Seq_HepG2_Human2.04267309
49ZFP57_27257070_Chip-Seq_ESCs_Mouse2.03068475
50MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.02935144
51SUZ12_27294783_Chip-Seq_ESCs_Mouse2.02058648
52FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse2.00136920
53FOXP3_21729870_ChIP-Seq_TREG_Human1.99020660
54EED_16625203_ChIP-ChIP_MESCs_Mouse1.98839420
55FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.96213003
56RBPJ_22232070_ChIP-Seq_NCS_Mouse1.93786598
57EZH2_27294783_Chip-Seq_ESCs_Mouse1.89604735
58DROSHA_22980978_ChIP-Seq_HELA_Human1.87029188
59RNF2_27304074_Chip-Seq_ESCs_Mouse1.84556556
60TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.83929122
61BMI1_23680149_ChIP-Seq_NPCS_Mouse1.72803992
62HOXB4_20404135_ChIP-ChIP_EML_Mouse1.72671909
63EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.69476579
64HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.66755454
65GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.66237471
66SMAD4_21799915_ChIP-Seq_A2780_Human1.63683824
67MYC_19079543_ChIP-ChIP_MESCs_Mouse1.62072917
68P300_19829295_ChIP-Seq_ESCs_Human1.61784174
69TTF2_22483619_ChIP-Seq_HELA_Human1.61292106
70ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.61257596
71POU3F2_20337985_ChIP-ChIP_501MEL_Human1.60960543
72MYCN_18555785_ChIP-Seq_MESCs_Mouse1.60736782
73AR_21909140_ChIP-Seq_LNCAP_Human1.60422188
74IKZF1_21737484_ChIP-ChIP_HCT116_Human1.60238918
75GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.59158727
76TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.57282194
77YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.56641940
78ZNF274_21170338_ChIP-Seq_K562_Hela1.56594260
79PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.55269712
80THAP11_20581084_ChIP-Seq_MESCs_Mouse1.54613866
81OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.54079277
82TOP2B_26459242_ChIP-Seq_MCF-7_Human1.53046631
83FLI1_27457419_Chip-Seq_LIVER_Mouse1.51031371
84POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.49226776
85FUS_26573619_Chip-Seq_HEK293_Human1.48512993
86ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.48257872
87SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.48122593
88CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.46934237
89SMAD3_21741376_ChIP-Seq_EPCs_Human1.45279556
90CBX2_27304074_Chip-Seq_ESCs_Mouse1.45216016
91DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.43421835
92AR_21572438_ChIP-Seq_LNCaP_Human1.43034458
93VDR_22108803_ChIP-Seq_LS180_Human1.42523889
94SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.41475803
95KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.40854982
96PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.39498290
97PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.39356578
98RNF2_27304074_Chip-Seq_NSC_Mouse1.39327863
99POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.39165683
100ELK1_22589737_ChIP-Seq_MCF10A_Human1.38160906
101XRN2_22483619_ChIP-Seq_HELA_Human1.35184862
102SOX17_20123909_ChIP-Seq_XEN_Mouse1.34171243
103FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.33695470
104MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.33388789
105ZFX_18555785_ChIP-Seq_MESCs_Mouse1.31533673
106NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.30657163
107NR3C1_23031785_ChIP-Seq_PC12_Mouse1.30080485
108SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.29379277
109ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.29232035
110MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.29118304
111PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.28443993
112CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.26210454
113NANOG_16153702_ChIP-ChIP_HESCs_Human1.26044991
114MYC_18940864_ChIP-ChIP_HL60_Human1.25230218
115ER_23166858_ChIP-Seq_MCF-7_Human1.24673620
116PCGF2_27294783_Chip-Seq_ESCs_Mouse1.23744698
117EOMES_21245162_ChIP-Seq_HESCs_Human1.23502670
118PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.23288476
119RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.22745503
120SOX2_21211035_ChIP-Seq_LN229_Gbm1.18470173
121STAT3_23295773_ChIP-Seq_U87_Human1.17912410
122MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.15160125
123UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.14806233
124TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.12392379
125POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.12392379
126POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.11954442
127AR_25329375_ChIP-Seq_VCAP_Human1.11923650
128RUNX2_22187159_ChIP-Seq_PCA_Human1.11883096
129CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.11848890
130TCF4_23295773_ChIP-Seq_U87_Human1.11821282
131TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.11385595
132POU5F1_16153702_ChIP-ChIP_HESCs_Human1.10963181
133PIAS1_25552417_ChIP-Seq_VCAP_Human1.10804800
134TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09140601
135NANOG_18555785_Chip-Seq_ESCs_Mouse1.08432097
136CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.07869228
137P53_22127205_ChIP-Seq_FIBROBLAST_Human1.07456394
138NANOG_18555785_ChIP-Seq_MESCs_Mouse1.07303706
139PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.07090726
140SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.06931277
141NR3C1_21868756_ChIP-Seq_MCF10A_Human1.05089344
142TFEB_21752829_ChIP-Seq_HELA_Human1.02821537
143MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.02552817
144TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.02479761
145YY1_21170310_ChIP-Seq_MESCs_Mouse1.01923085
146* KDM5A_27292631_Chip-Seq_BREAST_Human1.01448455
147JUN_21703547_ChIP-Seq_K562_Human1.01425198
148CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00753760
149CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.99489494
150EWS_26573619_Chip-Seq_HEK293_Human0.98968408
151E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.98768962
152SOX9_26525672_Chip-Seq_HEART_Mouse0.97717548
153FLI1_21867929_ChIP-Seq_TH2_Mouse0.97557007
154CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.97310932
155E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.97009751
156ERG_20887958_ChIP-Seq_HPC-7_Mouse0.96711952
157PRDM14_20953172_ChIP-Seq_ESCs_Human0.96105855
158E2F1_21310950_ChIP-Seq_MCF-7_Human0.95897266
159SMAD3_21741376_ChIP-Seq_ESCs_Human0.95659868
160IRF1_19129219_ChIP-ChIP_H3396_Human0.95142809
161FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.94535305
162KDM2B_26808549_Chip-Seq_REH_Human0.94481501
163RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.93569844
164* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.93446914
165BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.93319922
166AR_19668381_ChIP-Seq_PC3_Human0.92658481
167EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.92619694
168RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.92208592
169ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.91975531
170RING1B_27294783_Chip-Seq_ESCs_Mouse0.91290634
171AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.91034169
172TRIM28_21343339_ChIP-Seq_HEK293_Human0.90699430
173PCGF2_27294783_Chip-Seq_NPCs_Mouse0.90272770
174CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.89709472
175HCFC1_20581084_ChIP-Seq_MESCs_Mouse0.89567393
176GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.86923704
177TAL1_26923725_Chip-Seq_HPCs_Mouse0.86671607
178CMYC_18555785_Chip-Seq_ESCs_Mouse0.86428975
179HIF1A_21447827_ChIP-Seq_MCF-7_Human0.86391142
180SOX2_16153702_ChIP-ChIP_HESCs_Human0.86126499
181MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.85310295
182EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.84912385
183ELF5_23300383_ChIP-Seq_T47D_Human0.84903739
184CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.78061913
185BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.76155498
186SOX2_18555785_ChIP-Seq_MESCs_Mouse0.75826696
187SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.74159684
188NOTCH1_21737748_ChIP-Seq_TLL_Human0.70799365

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern4.62754984
2MP0004859_abnormal_synaptic_plasticity4.28989389
3MP0010030_abnormal_orbit_morphology4.14724190
4MP0003635_abnormal_synaptic_transmissio3.38108422
5MP0009745_abnormal_behavioral_response2.95018519
6MP0004270_analgesia2.90005500
7MP0002064_seizures2.86217975
8MP0003693_abnormal_embryo_hatching2.78422560
9MP0009046_muscle_twitch2.77484455
10MP0008438_abnormal_cutaneous_collagen2.75331089
11MP0002063_abnormal_learning/memory/cond2.73136878
12MP0001529_abnormal_vocalization2.70322864
13MP0002572_abnormal_emotion/affect_behav2.63509347
14MP0002938_white_spotting2.52064327
15MP0002272_abnormal_nervous_system2.46461741
16MP0004272_abnormal_basement_membrane2.41648957
17MP0001440_abnormal_grooming_behavior2.32082097
18MP0002734_abnormal_mechanical_nocicepti2.29223283
19MP0002822_catalepsy2.28044843
20MP0001501_abnormal_sleep_pattern2.21598723
21MP0001968_abnormal_touch/_nociception2.21381457
22MP0001486_abnormal_startle_reflex2.19845061
23MP0005645_abnormal_hypothalamus_physiol2.19293473
24MP0008058_abnormal_DNA_repair2.18674263
25MP0003786_premature_aging2.18299202
26MP0008789_abnormal_olfactory_epithelium2.04432803
27MP0003122_maternal_imprinting2.00890802
28MP0005646_abnormal_pituitary_gland2.00026892
29MP0006072_abnormal_retinal_apoptosis1.99627517
30MP0001188_hyperpigmentation1.96293813
31MP0005503_abnormal_tendon_morphology1.93791495
32MP0005409_darkened_coat_color1.93119706
33MP0010094_abnormal_chromosome_stability1.91700685
34MP0010386_abnormal_urinary_bladder1.90586025
35MP0001984_abnormal_olfaction1.89644674
36MP0006054_spinal_hemorrhage1.88680191
37MP0004957_abnormal_blastocyst_morpholog1.87642559
38MP0003186_abnormal_redox_activity1.84634476
39MP0008932_abnormal_embryonic_tissue1.84434932
40MP0005423_abnormal_somatic_nervous1.83872713
41MP0001905_abnormal_dopamine_level1.83716198
42MP0008007_abnormal_cellular_replicative1.83298283
43MP0006276_abnormal_autonomic_nervous1.82582619
44MP0009780_abnormal_chondrocyte_physiolo1.81043317
45MP0003941_abnormal_skin_development1.80201124
46MP0002736_abnormal_nociception_after1.79428287
47MP0002067_abnormal_sensory_capabilities1.77070269
48MP0005551_abnormal_eye_electrophysiolog1.76010785
49MP0005171_absent_coat_pigmentation1.73904077
50MP0005408_hypopigmentation1.73581609
51MP0002837_dystrophic_cardiac_calcinosis1.70040728
52MP0000013_abnormal_adipose_tissue1.69846808
53MP0009697_abnormal_copulation1.69727651
54MP0002557_abnormal_social/conspecific_i1.69135458
55MP0000778_abnormal_nervous_system1.67935637
56MP0003195_calcinosis1.66690641
57MP0001293_anophthalmia1.66247221
58MP0002233_abnormal_nose_morphology1.64388272
59MP0001970_abnormal_pain_threshold1.62524807
60MP0004742_abnormal_vestibular_system1.61623002
61MP0004924_abnormal_behavior1.61108260
62MP0005386_behavior/neurological_phenoty1.61108260
63MP0004885_abnormal_endolymph1.59666253
64MP0003329_amyloid_beta_deposits1.58068043
65MP0003718_maternal_effect1.57396891
66MP0008569_lethality_at_weaning1.55019488
67MP0000516_abnormal_urinary_system1.53072798
68MP0005367_renal/urinary_system_phenotyp1.53072798
69MP0003937_abnormal_limbs/digits/tail_de1.52212304
70MP0003011_delayed_dark_adaptation1.51773810
71MP0002184_abnormal_innervation1.51108075
72MP0002282_abnormal_trachea_morphology1.50063786
73MP0003183_abnormal_peptide_metabolism1.48579384
74MP0002733_abnormal_thermal_nociception1.47623082
75MP0010368_abnormal_lymphatic_system1.47556608
76MP0004142_abnormal_muscle_tone1.42604526
77MP0004043_abnormal_pH_regulation1.39901909
78MP0005275_abnormal_skin_tensile1.39622477
79MP0002735_abnormal_chemical_nociception1.39513943
80MP0003111_abnormal_nucleus_morphology1.37995961
81MP0002638_abnormal_pupillary_reflex1.37270902
82MP0002882_abnormal_neuron_morphology1.37181477
83MP0000631_abnormal_neuroendocrine_gland1.37019814
84MP0005623_abnormal_meninges_morphology1.35389595
85MP0002102_abnormal_ear_morphology1.35358814
86MP0005508_abnormal_skeleton_morphology1.34942044
87MP0003567_abnormal_fetal_cardiomyocyte1.32970045
88MP0005379_endocrine/exocrine_gland_phen1.32686644
89MP0003806_abnormal_nucleotide_metabolis1.32361972
90MP0003077_abnormal_cell_cycle1.31816633
91MP0004133_heterotaxia1.31386663
92MP0001502_abnormal_circadian_rhythm1.29492463
93MP0002909_abnormal_adrenal_gland1.28613392
94MP0004811_abnormal_neuron_physiology1.27971413
95MP0002066_abnormal_motor_capabilities/c1.27870531
96MP0003879_abnormal_hair_cell1.25566187
97MP0003950_abnormal_plasma_membrane1.25450319
98MP0005257_abnormal_intraocular_pressure1.25279375
99MP0002254_reproductive_system_inflammat1.24745961
100MP0002229_neurodegeneration1.24182083
101MP0003787_abnormal_imprinting1.24070348
102MP0000358_abnormal_cell_content/1.22745374
103MP0000955_abnormal_spinal_cord1.22028450
104MP0000566_synostosis1.21113936
105MP0004147_increased_porphyrin_level1.20400917
106MP0003634_abnormal_glial_cell1.20115751
107MP0002295_abnormal_pulmonary_circulatio1.19181597
108MP0003755_abnormal_palate_morphology1.16519523
109MP0005248_abnormal_Harderian_gland1.16090449
110MP0005084_abnormal_gallbladder_morpholo1.14356349
111MP0001243_abnormal_dermal_layer1.13763155
112MP0002751_abnormal_autonomic_nervous1.12726674
113MP0005253_abnormal_eye_physiology1.12541784
114MP0000920_abnormal_myelination1.12181620
115MP0005410_abnormal_fertilization1.09054285
116MP0000015_abnormal_ear_pigmentation1.08577523
117MP0006292_abnormal_olfactory_placode1.07018737
118MP0001299_abnormal_eye_distance/1.06998103
119MP0001286_abnormal_eye_development1.06758494
120MP0001963_abnormal_hearing_physiology1.06677733
121MP0009384_cardiac_valve_regurgitation1.06141855
122MP0002876_abnormal_thyroid_physiology1.04416073
123MP0009250_abnormal_appendicular_skeleto1.03637012
124MP0001542_abnormal_bone_strength1.03183510
125MP0000647_abnormal_sebaceous_gland1.02875412
126MP0002152_abnormal_brain_morphology1.02540862
127MP0002060_abnormal_skin_morphology1.01880370
128MP0008877_abnormal_DNA_methylation0.99724920
129MP0000372_irregular_coat_pigmentation0.98029025
130MP0002697_abnormal_eye_size0.97902978
131MP0001764_abnormal_homeostasis0.97839672
132MP0005391_vision/eye_phenotype0.97121973
133MP0002084_abnormal_developmental_patter0.96604615
134MP0005395_other_phenotype0.96505984
135MP0002111_abnormal_tail_morphology0.96047939
136MP0003943_abnormal_hepatobiliary_system0.95646025
137MP0005197_abnormal_uvea_morphology0.95066235
138MP0002092_abnormal_eye_morphology0.94030210
139MP0002234_abnormal_pharynx_morphology0.93995569
140MP0002085_abnormal_embryonic_tissue0.93808191
141MP0003633_abnormal_nervous_system0.93724442
142MP0006035_abnormal_mitochondrial_morpho0.93675635
143MP0002090_abnormal_vision0.93049176
144MP0003942_abnormal_urinary_system0.92944323
145MP0003690_abnormal_glial_cell0.92810972
146MP0001485_abnormal_pinna_reflex0.92745239
147MP0003936_abnormal_reproductive_system0.92135665
148MP0002752_abnormal_somatic_nervous0.91638282
149MP0003890_abnormal_embryonic-extraembry0.91160406
150MP0003283_abnormal_digestive_organ0.90377627
151MP0003385_abnormal_body_wall0.89804268
152MP0000049_abnormal_middle_ear0.89248463
153MP0001697_abnormal_embryo_size0.88704416
154MP0001346_abnormal_lacrimal_gland0.88321772
155MP0004145_abnormal_muscle_electrophysio0.88149052
156MP0005332_abnormal_amino_acid0.88087803
157MP0008875_abnormal_xenobiotic_pharmacok0.88060408
158MP0003119_abnormal_digestive_system0.86825381
159MP0001986_abnormal_taste_sensitivity0.86623564
160MP0001672_abnormal_embryogenesis/_devel0.86623453
161MP0005380_embryogenesis_phenotype0.86623453
162MP0002069_abnormal_eating/drinking_beha0.86527706
163MP0000428_abnormal_craniofacial_morphol0.85472948
164MP0000762_abnormal_tongue_morphology0.84341186
165MP0000613_abnormal_salivary_gland0.83672052
166MP0000026_abnormal_inner_ear0.83650113
167MP0001881_abnormal_mammary_gland0.83549211
168MP0003121_genomic_imprinting0.83534083
169MP0004233_abnormal_muscle_weight0.82774039
170MP0004134_abnormal_chest_morphology0.81723559
171MP0002693_abnormal_pancreas_physiology0.81202555
172MP0001324_abnormal_eye_pigmentation0.81166283
173MP0003631_nervous_system_phenotype0.80772226
174MP0009053_abnormal_anal_canal0.80168864
175MP0005193_abnormal_anterior_eye0.79964340
176MP0006036_abnormal_mitochondrial_physio0.79542516
177MP0001727_abnormal_embryo_implantation0.78937876
178MP0004085_abnormal_heartbeat0.78853146
179MP0001664_abnormal_digestion0.77777440
180MP0001944_abnormal_pancreas_morphology0.73398307
181MP0005499_abnormal_olfactory_system0.72515907
182MP0005394_taste/olfaction_phenotype0.72515907
183MP0005535_abnormal_body_temperature0.71690412
184MP0000751_myopathy0.69311120
185MP0000569_abnormal_digit_pigmentation0.62120812
186MP0005195_abnormal_posterior_eye0.61690598
187MP0003698_abnormal_male_reproductive0.61201958
188MP0003632_abnormal_nervous_system0.59588850
189MP0004215_abnormal_myocardial_fiber0.59193762

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.28244347
2Atonic seizures (HP:0010819)4.74656176
3Visual hallucinations (HP:0002367)4.24865066
4Focal seizures (HP:0007359)4.11668592
5Epileptic encephalopathy (HP:0200134)4.03407450
6Gait imbalance (HP:0002141)3.76109517
7Myokymia (HP:0002411)3.73198825
8Medial flaring of the eyebrow (HP:0010747)3.64505850
9Absence seizures (HP:0002121)3.59441410
10Congenital primary aphakia (HP:0007707)3.52666712
11Acute necrotizing encephalopathy (HP:0006965)3.47318993
12Type I transferrin isoform profile (HP:0003642)3.43372729
13Dialeptic seizures (HP:0011146)3.40488659
14Abnormal ciliary motility (HP:0012262)3.29758728
15Febrile seizures (HP:0002373)3.26728448
16Nephrogenic diabetes insipidus (HP:0009806)3.21969795
17Abnormal mitochondria in muscle tissue (HP:0008316)3.12071499
18Abnormal respiratory motile cilium physiology (HP:0012261)3.09547452
19Vaginal atresia (HP:0000148)3.02806214
20Abnormal protein glycosylation (HP:0012346)3.02578504
21Abnormal glycosylation (HP:0012345)3.02578504
22Abnormal isoelectric focusing of serum transferrin (HP:0003160)3.02578504
23Abnormal protein N-linked glycosylation (HP:0012347)3.02578504
24Progressive macrocephaly (HP:0004481)3.00225476
25Genital tract atresia (HP:0001827)2.97367022
26Hypothermia (HP:0002045)2.96509926
27Neurofibrillary tangles (HP:0002185)2.96204036
28Degeneration of the lateral corticospinal tracts (HP:0002314)2.87744435
29Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.87744435
30Generalized tonic-clonic seizures (HP:0002069)2.84650974
31Abnormality of the anterior horn cell (HP:0006802)2.84571151
32Degeneration of anterior horn cells (HP:0002398)2.84571151
33Pheochromocytoma (HP:0002666)2.81887793
34Abnormal respiratory epithelium morphology (HP:0012253)2.79474526
35Abnormal respiratory motile cilium morphology (HP:0005938)2.79474526
36Mitochondrial inheritance (HP:0001427)2.77069951
37Cerebral inclusion bodies (HP:0100314)2.74607463
38Adrenal hypoplasia (HP:0000835)2.73480954
39Dynein arm defect of respiratory motile cilia (HP:0012255)2.73184523
40Absent/shortened dynein arms (HP:0200106)2.73184523
41Supranuclear gaze palsy (HP:0000605)2.71463686
42Neuroendocrine neoplasm (HP:0100634)2.70377616
43Aplasia/Hypoplasia of the tongue (HP:0010295)2.65077637
44Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.62471828
45Hepatic necrosis (HP:0002605)2.60913676
46Epileptiform EEG discharges (HP:0011182)2.58937834
47Rhinitis (HP:0012384)2.53769664
48Premature rupture of membranes (HP:0001788)2.49688982
49EEG with generalized epileptiform discharges (HP:0011198)2.49180349
50Microglossia (HP:0000171)2.47968444
51Acute encephalopathy (HP:0006846)2.47121454
52Poor coordination (HP:0002370)2.44940267
53Anxiety (HP:0000739)2.43727880
54Bony spicule pigmentary retinopathy (HP:0007737)2.43273948
55Hemiparesis (HP:0001269)2.40339236
56Increased hepatocellular lipid droplets (HP:0006565)2.40187914
57Hyperglycinemia (HP:0002154)2.39832380
58Aplasia/Hypoplasia of the lens (HP:0008063)2.39140471
59Abnormality of methionine metabolism (HP:0010901)2.39031099
60Broad-based gait (HP:0002136)2.38211076
61Truncal ataxia (HP:0002078)2.35726908
62Limb dystonia (HP:0002451)2.34803885
63Bile duct proliferation (HP:0001408)2.33270140
64Abnormal biliary tract physiology (HP:0012439)2.33270140
65Abnormal rod and cone electroretinograms (HP:0008323)2.32794963
66Hypsarrhythmia (HP:0002521)2.32698182
67Retinal dysplasia (HP:0007973)2.31902474
68Abnormality of the corticospinal tract (HP:0002492)2.31640074
69Cerebral edema (HP:0002181)2.31493417
70Abnormality of dentin (HP:0010299)2.30699811
71Increased serum pyruvate (HP:0003542)2.29772541
72Lipid accumulation in hepatocytes (HP:0006561)2.29337516
73Decreased circulating renin level (HP:0003351)2.28420916
74Hyperventilation (HP:0002883)2.27530339
75Occipital encephalocele (HP:0002085)2.27246149
76Progressive cerebellar ataxia (HP:0002073)2.26823139
773-Methylglutaconic aciduria (HP:0003535)2.24328876
78Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.22709317
79Decreased activity of mitochondrial respiratory chain (HP:0008972)2.22709317
80Abnormality of glycolysis (HP:0004366)2.20606939
81Hypoplastic pelvis (HP:0008839)2.20009243
82Specific learning disability (HP:0001328)2.17702695
83Pancreatic cysts (HP:0001737)2.16785818
84Renal Fanconi syndrome (HP:0001994)2.15932984
85Agitation (HP:0000713)2.13935863
86Amblyopia (HP:0000646)2.13307942
87Gaze-evoked nystagmus (HP:0000640)2.12324653
88Increased CSF lactate (HP:0002490)2.11288155
89Abnormality of the labia minora (HP:0012880)2.10760458
90Diplopia (HP:0000651)2.10534975
91Abnormality of binocular vision (HP:0011514)2.10534975
92Meckel diverticulum (HP:0002245)2.08338294
93Absent rod-and cone-mediated responses on ERG (HP:0007688)2.06547111
94Abnormal umbilical cord blood vessels (HP:0011403)2.06487034
95Single umbilical artery (HP:0001195)2.06487034
96Abnormality of the fetal cardiovascular system (HP:0010948)2.06487034
97Abnormality of aspartate family amino acid metabolism (HP:0010899)2.05955969
98Attenuation of retinal blood vessels (HP:0007843)2.05354071
99Optic disc pallor (HP:0000543)2.04902833
100Dysmetria (HP:0001310)2.04094868
101Reduced antithrombin III activity (HP:0001976)2.03506736
102Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.02827281
103Pancreatic fibrosis (HP:0100732)2.01624345
104Supernumerary spleens (HP:0009799)2.00025089
105Abnormal lung lobation (HP:0002101)1.98616581
106Lactic acidosis (HP:0003128)1.97994956
107Papilledema (HP:0001085)1.97225003
108Aplasia/Hypoplasia of the uvula (HP:0010293)1.96907808
109Spastic gait (HP:0002064)1.96725683
110Abnormal eating behavior (HP:0100738)1.96629221
111Abnormality of the ileum (HP:0001549)1.96347279
112Type II lissencephaly (HP:0007260)1.95422887
113Entropion (HP:0000621)1.94620640
114Decreased central vision (HP:0007663)1.94549257
115Megalencephaly (HP:0001355)1.93839938
116Depression (HP:0000716)1.93550802
117Sclerocornea (HP:0000647)1.93418196
118Intestinal atresia (HP:0011100)1.92661843
119Leukodystrophy (HP:0002415)1.92652269
120Dysdiadochokinesis (HP:0002075)1.90777649
121Microvesicular hepatic steatosis (HP:0001414)1.90557935
122Hypoplasia of the capital femoral epiphysis (HP:0003090)1.90161532
123Polyphagia (HP:0002591)1.89820998
124Drooling (HP:0002307)1.89565422
125Excessive salivation (HP:0003781)1.89565422
126Chronic bronchitis (HP:0004469)1.89405298
127Dysautonomia (HP:0002459)1.89181902
128Methylmalonic acidemia (HP:0002912)1.89157558
129* Bifid tongue (HP:0010297)1.89103288
130Renal cortical cysts (HP:0000803)1.88466415
131Postaxial foot polydactyly (HP:0001830)1.88440406
132Mutism (HP:0002300)1.88078954
133Impaired vibration sensation in the lower limbs (HP:0002166)1.87047676
134Abnormal autonomic nervous system physiology (HP:0012332)1.86736105
135Hyperglycinuria (HP:0003108)1.86656645
136Increased serum lactate (HP:0002151)1.86444984
137Psychosis (HP:0000709)1.85197568
138Abnormality of glycine metabolism (HP:0010895)1.83416851
139Abnormality of serine family amino acid metabolism (HP:0010894)1.83416851
140Retinitis pigmentosa (HP:0000510)1.83283597
141Delayed gross motor development (HP:0002194)1.82509502
142Hepatocellular necrosis (HP:0001404)1.81929900
143Abnormality of cochlea (HP:0000375)1.81922973
144Ankle clonus (HP:0011448)1.80818355
145Morphological abnormality of the inner ear (HP:0011390)1.80595232
146True hermaphroditism (HP:0010459)1.80477766
147* Preaxial hand polydactyly (HP:0001177)1.79645187
148Neuronal loss in central nervous system (HP:0002529)1.79269908
149Respiratory failure (HP:0002878)1.76441035
150Delusions (HP:0000746)1.76224971
151Colon cancer (HP:0003003)1.76221247
152Broad foot (HP:0001769)1.75730490
153Abnormality of the umbilical cord (HP:0010881)1.75304836
154* Abnormality of midbrain morphology (HP:0002418)1.74321996
155* Molar tooth sign on MRI (HP:0002419)1.74321996
156Methylmalonic aciduria (HP:0012120)1.73640815
157Nephronophthisis (HP:0000090)1.72559406
158Abnormalities of placenta or umbilical cord (HP:0001194)1.71617620
159Stenosis of the external auditory canal (HP:0000402)1.68926546
160Disproportionate short-trunk short stature (HP:0003521)1.68570014
161Aplasia/Hypoplasia involving the musculature (HP:0001460)1.68147201
162Cortical visual impairment (HP:0100704)1.65788913
163Unsteady gait (HP:0002317)1.65555279
164Termporal pattern (HP:0011008)1.65512371
165Lethargy (HP:0001254)1.65383803
166Vertebral compression fractures (HP:0002953)1.63669992
167Exercise intolerance (HP:0003546)1.63190104
168Chromosomal breakage induced by crosslinking agents (HP:0003221)1.58265960
169Absent epiphyses (HP:0010577)1.56248471
170Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.56248471
171Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.55127530
172Abnormality of serum amino acid levels (HP:0003112)1.53882940
173Chromsome breakage (HP:0040012)1.53260992
174Aplasia/Hypoplasia of the vertebrae (HP:0008515)1.53179519
175Vertebral hypoplasia (HP:0008417)1.53179519
176Beaking of vertebral bodies (HP:0004568)1.52899749
177Hypokinesia (HP:0002375)1.52471205
178Secondary amenorrhea (HP:0000869)1.52350651
179CNS demyelination (HP:0007305)1.52275367
180Gastrointestinal atresia (HP:0002589)1.51342782
181Short nail (HP:0001799)1.50894145
182Male pseudohermaphroditism (HP:0000037)1.50449793
183Astigmatism (HP:0000483)1.50381523

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA44.39210466
2NTRK33.56495878
3BUB13.47349106
4CASK2.91772230
5VRK22.88854109
6EIF2AK32.78980647
7PNCK2.71160089
8EIF2AK12.69475283
9PBK2.68921248
10BRSK22.51895278
11TNIK2.41238882
12MAPK152.39855784
13MAP3K42.35112800
14PRPF4B2.30151788
15MAP2K72.24103993
16LIMK12.20021554
17ARAF2.12952935
18SRPK12.10039907
19MARK12.04422472
20NTRK22.01084699
21TTK2.00419112
22WEE11.99622776
23NUAK11.98706719
24BCR1.97180633
25CAMKK21.95107035
26MINK11.90462567
27MST41.89439880
28UHMK11.87938545
29MAP3K121.86279569
30EPHA21.84871427
31PLK31.77098558
32TIE11.77011214
33WNK31.76812089
34NEK11.75598574
35INSRR1.73756404
36ZAK1.72971238
37MAPK131.71442555
38MAP3K91.69764750
39PLK21.68109747
40STK161.63614526
41MAP4K21.62416619
42OXSR11.59470598
43BRSK11.58335142
44TESK11.53438724
45RIPK41.51232256
46CDK191.49497199
47STK391.47960280
48DAPK11.47752290
49BCKDK1.45733696
50TRIM281.42845366
51CDK51.34807020
52SIK21.33872832
53CAMK2B1.31863141
54NTRK11.31168017
55BMPR21.30292713
56GRK11.28561553
57MYLK1.28394421
58ERBB41.28246270
59MET1.28224328
60TAF11.26797665
61DAPK21.26309707
62AKT31.25932430
63FES1.25181243
64PRKCG1.20783634
65PAK61.19820448
66MUSK1.16037484
67PAK41.14746495
68ACVR1B1.14710259
69NME11.14346104
70FLT31.13437391
71SIK31.13186712
72CDK81.12974557
73TGFBR11.11217040
74CAMK2A1.11098431
75GRK51.10607069
76PLK41.10427647
77PDK21.10294405
78PLK11.07187987
79NME21.06896859
80MKNK11.05638396
81EIF2AK21.04922719
82ERBB31.04365949
83FER1.02790483
84WNK41.02778340
85DYRK1A0.99844683
86MAPKAPK50.98542452
87PTK2B0.97363395
88MAPKAPK30.97336720
89CAMKK10.93835749
90BRAF0.92885678
91CAMK2D0.92223101
92NEK60.90119447
93PIM20.89190374
94ATR0.87595666
95EPHB20.86894595
96SGK4940.85901038
97SGK2230.85901038
98PRKD30.84234787
99CAMK1G0.83823408
100CDK180.83482266
101PRKCE0.83380740
102TSSK60.82516921
103PASK0.81587447
104MAP2K40.80488019
105CDK140.79315067
106CHEK20.78790478
107CDK150.77597586
108VRK10.76481662
109KSR10.76194030
110STK38L0.75286889
111MAP3K130.72162485
112MST1R0.71428535
113CSNK1G20.70251880
114FGFR10.68938420
115AURKB0.68603447
116PDK40.68196331
117PDK30.68196331
118CDK11A0.67947291
119CDK70.66701324
120CSNK1G30.66614459
121PAK30.65790176
122PHKG20.63778377
123PHKG10.63778377
124RAF10.60866462
125LMTK20.60502806
126TESK20.58838529
127CDK30.58528856
128MKNK20.58103515
129BMPR1B0.55949916
130NLK0.55703716
131CAMK10.55213634
132MAP3K20.54306108
133CSNK1A1L0.53653356
134CCNB10.53335838
135STK30.52984711
136NEK90.50406162
137ILK0.50227409
138ATM0.49443178
139LATS10.49329796
140CDK90.48199725
141SGK10.48145812
142ADRBK20.47530785
143CSNK2A10.46399629
144IRAK20.45477958
145FGR0.44774358
146ADRBK10.44123146
147ROCK20.43741621
148PRKACA0.43472535
149CAMK2G0.42764922
150MARK20.42371236
151TNK20.41779389
152CHEK10.41488161
153CSNK2A20.41003202
154KSR20.40963437
155HIPK20.40237251
156FGFR20.39648486
157PRKCI0.39374927
158PKN10.37727942
159GRK70.37360452
160SGK20.36247855
161DYRK20.35724378
162CSNK1G10.35384544
163STK100.35312757
164NEK20.35246381
165PRKCB0.34983402
166PRKCH0.34946903
167AURKA0.34673603
168CSNK1A10.34506035
169DAPK30.33292560

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.41011152
2Synaptic vesicle cycle_Homo sapiens_hsa047212.78798198
3Oxidative phosphorylation_Homo sapiens_hsa001902.73501897
4Collecting duct acid secretion_Homo sapiens_hsa049662.65917320
5Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.53219042
6GABAergic synapse_Homo sapiens_hsa047272.50542035
7Amphetamine addiction_Homo sapiens_hsa050312.46808958
8Circadian entrainment_Homo sapiens_hsa047132.39637617
9Morphine addiction_Homo sapiens_hsa050322.35161171
10Long-term potentiation_Homo sapiens_hsa047202.34434391
11Propanoate metabolism_Homo sapiens_hsa006402.30568020
12Olfactory transduction_Homo sapiens_hsa047402.30339067
13Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.27372240
14Protein export_Homo sapiens_hsa030602.27152656
15Insulin secretion_Homo sapiens_hsa049112.22989565
16Steroid biosynthesis_Homo sapiens_hsa001002.15108844
17Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.14763228
18Glutamatergic synapse_Homo sapiens_hsa047242.13168114
19Vibrio cholerae infection_Homo sapiens_hsa051102.13073483
20Parkinsons disease_Homo sapiens_hsa050122.09932612
21Dopaminergic synapse_Homo sapiens_hsa047282.05169239
22Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.05121033
23Phototransduction_Homo sapiens_hsa047442.04176686
24Alzheimers disease_Homo sapiens_hsa050102.02498414
25Serotonergic synapse_Homo sapiens_hsa047262.02276779
26Mismatch repair_Homo sapiens_hsa034302.00863004
27Taste transduction_Homo sapiens_hsa047421.98745195
28RNA polymerase_Homo sapiens_hsa030201.86055098
29Non-homologous end-joining_Homo sapiens_hsa034501.85307282
30Cocaine addiction_Homo sapiens_hsa050301.82681810
31Nucleotide excision repair_Homo sapiens_hsa034201.82070183
32Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.78497013
33DNA replication_Homo sapiens_hsa030301.76128736
34Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.75482410
35Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.75393179
36Cholinergic synapse_Homo sapiens_hsa047251.69301888
372-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.63343775
38Salivary secretion_Homo sapiens_hsa049701.62845973
39Base excision repair_Homo sapiens_hsa034101.60955657
40Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.59899870
41Renin secretion_Homo sapiens_hsa049241.59163310
42Huntingtons disease_Homo sapiens_hsa050161.58352120
43Glutathione metabolism_Homo sapiens_hsa004801.56299833
44Pyruvate metabolism_Homo sapiens_hsa006201.55786964
45Cardiac muscle contraction_Homo sapiens_hsa042601.54218268
46Homologous recombination_Homo sapiens_hsa034401.52050970
47Long-term depression_Homo sapiens_hsa047301.50454548
48Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.46444052
49Aldosterone synthesis and secretion_Homo sapiens_hsa049251.46063412
50Pyrimidine metabolism_Homo sapiens_hsa002401.44721552
51Gastric acid secretion_Homo sapiens_hsa049711.44454576
52Calcium signaling pathway_Homo sapiens_hsa040201.43901495
53Cysteine and methionine metabolism_Homo sapiens_hsa002701.40506526
54One carbon pool by folate_Homo sapiens_hsa006701.39245418
55Maturity onset diabetes of the young_Homo sapiens_hsa049501.38105550
56Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.38091025
57Basal transcription factors_Homo sapiens_hsa030221.37581002
58Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.37112841
59Fanconi anemia pathway_Homo sapiens_hsa034601.36061280
60RNA transport_Homo sapiens_hsa030131.34752779
61Oxytocin signaling pathway_Homo sapiens_hsa049211.33864791
62Folate biosynthesis_Homo sapiens_hsa007901.29786162
63Selenocompound metabolism_Homo sapiens_hsa004501.25144100
64Carbon metabolism_Homo sapiens_hsa012001.24572274
65Fatty acid metabolism_Homo sapiens_hsa012121.21609718
66Ribosome_Homo sapiens_hsa030101.20486561
67Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.18793848
68Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.17180419
69Butanoate metabolism_Homo sapiens_hsa006501.16373122
70Spliceosome_Homo sapiens_hsa030401.14285254
71RNA degradation_Homo sapiens_hsa030181.13842300
72Primary bile acid biosynthesis_Homo sapiens_hsa001201.12227637
73Biosynthesis of amino acids_Homo sapiens_hsa012301.11574289
74Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.11447396
75Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.10480665
76Gap junction_Homo sapiens_hsa045401.04353894
77Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.03901956
78Axon guidance_Homo sapiens_hsa043601.02700137
79cAMP signaling pathway_Homo sapiens_hsa040240.99612319
80GnRH signaling pathway_Homo sapiens_hsa049120.97841534
81Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.97026960
82SNARE interactions in vesicular transport_Homo sapiens_hsa041300.96533023
83Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.94228930
84Vascular smooth muscle contraction_Homo sapiens_hsa042700.92048234
85Phosphatidylinositol signaling system_Homo sapiens_hsa040700.91863739
86Peroxisome_Homo sapiens_hsa041460.91022696
87Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.90404213
88Chemical carcinogenesis_Homo sapiens_hsa052040.90000895
89Fatty acid degradation_Homo sapiens_hsa000710.89472333
90Pentose and glucuronate interconversions_Homo sapiens_hsa000400.87345088
91Metabolic pathways_Homo sapiens_hsa011000.87238771
92cGMP-PKG signaling pathway_Homo sapiens_hsa040220.86883185
93Tryptophan metabolism_Homo sapiens_hsa003800.86766432
94Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.85710390
95Estrogen signaling pathway_Homo sapiens_hsa049150.85486866
96beta-Alanine metabolism_Homo sapiens_hsa004100.85483245
97Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.82226082
98Cell cycle_Homo sapiens_hsa041100.81233016
99Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.79852884
100Melanogenesis_Homo sapiens_hsa049160.79837514
101Pancreatic secretion_Homo sapiens_hsa049720.79532935
102Arginine and proline metabolism_Homo sapiens_hsa003300.78574894
103Glycosaminoglycan degradation_Homo sapiens_hsa005310.77978257
104Type II diabetes mellitus_Homo sapiens_hsa049300.77707567
105N-Glycan biosynthesis_Homo sapiens_hsa005100.75600749
106Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.75202364
107Rheumatoid arthritis_Homo sapiens_hsa053230.74853546
108Type I diabetes mellitus_Homo sapiens_hsa049400.74740796
109Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.73575238
110Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.73181615
111p53 signaling pathway_Homo sapiens_hsa041150.72984559
112Caffeine metabolism_Homo sapiens_hsa002320.72834201
113Oocyte meiosis_Homo sapiens_hsa041140.72381223
114Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.70962563
115Basal cell carcinoma_Homo sapiens_hsa052170.70438995
116Thyroid hormone synthesis_Homo sapiens_hsa049180.69744773
117Alcoholism_Homo sapiens_hsa050340.68639146
118Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.67898507
119Glucagon signaling pathway_Homo sapiens_hsa049220.65813668
120TGF-beta signaling pathway_Homo sapiens_hsa043500.61250016
121Fat digestion and absorption_Homo sapiens_hsa049750.61172967
122Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.60166109
123Vitamin B6 metabolism_Homo sapiens_hsa007500.60156125
124Hedgehog signaling pathway_Homo sapiens_hsa043400.60037448
125Sulfur relay system_Homo sapiens_hsa041220.59454445
126Pentose phosphate pathway_Homo sapiens_hsa000300.58433485
127ErbB signaling pathway_Homo sapiens_hsa040120.58163360
128Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.58016427
129Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.57315163
130mRNA surveillance pathway_Homo sapiens_hsa030150.57310696
131Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.56586096
132Inositol phosphate metabolism_Homo sapiens_hsa005620.55703627
133Phagosome_Homo sapiens_hsa041450.55509882
134Retinol metabolism_Homo sapiens_hsa008300.55370748
135Fatty acid elongation_Homo sapiens_hsa000620.54493013
136Tyrosine metabolism_Homo sapiens_hsa003500.54180265
137Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.52510112
138Glioma_Homo sapiens_hsa052140.51840402
139Drug metabolism - other enzymes_Homo sapiens_hsa009830.50406960
140Ras signaling pathway_Homo sapiens_hsa040140.49881022
141Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.49241306
142Carbohydrate digestion and absorption_Homo sapiens_hsa049730.49151744
143Vitamin digestion and absorption_Homo sapiens_hsa049770.48768347
144Ether lipid metabolism_Homo sapiens_hsa005650.47969571
145Dilated cardiomyopathy_Homo sapiens_hsa054140.47433852
146Hippo signaling pathway_Homo sapiens_hsa043900.46608828
147MAPK signaling pathway_Homo sapiens_hsa040100.46103844
148Circadian rhythm_Homo sapiens_hsa047100.44914992
149Sphingolipid metabolism_Homo sapiens_hsa006000.43881708
150Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.43364424
151Phospholipase D signaling pathway_Homo sapiens_hsa040720.40728366
152Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.39537985
153Nitrogen metabolism_Homo sapiens_hsa009100.39275738
154Steroid hormone biosynthesis_Homo sapiens_hsa001400.39175440
155Cyanoamino acid metabolism_Homo sapiens_hsa004600.38107374
156Regulation of autophagy_Homo sapiens_hsa041400.36408416
157Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.34841753
158Sulfur metabolism_Homo sapiens_hsa009200.34536509
159Phenylalanine metabolism_Homo sapiens_hsa003600.33845877
160Sphingolipid signaling pathway_Homo sapiens_hsa040710.32890348
161Choline metabolism in cancer_Homo sapiens_hsa052310.32617893
162Galactose metabolism_Homo sapiens_hsa000520.32452837
163Wnt signaling pathway_Homo sapiens_hsa043100.32089675
164ECM-receptor interaction_Homo sapiens_hsa045120.31299460
165Proteasome_Homo sapiens_hsa030500.28484046
166Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.27938598
167Purine metabolism_Homo sapiens_hsa002300.27367213
168Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.26585236
169Lysosome_Homo sapiens_hsa041420.26017203
170Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.25789255
171Glycerophospholipid metabolism_Homo sapiens_hsa005640.25145417
172Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.24858920
173Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.24475918
174Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.24138170
175Ovarian steroidogenesis_Homo sapiens_hsa049130.23454302
176Endocytosis_Homo sapiens_hsa041440.22966855

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