RAB3GAP2

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





Description: The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1nuclear pore complex assembly (GO:0051292)4.91155943
2Golgi transport vesicle coating (GO:0048200)4.87851544
3COPI coating of Golgi vesicle (GO:0048205)4.87851544
4nuclear pore organization (GO:0006999)4.70637542
5mitotic sister chromatid cohesion (GO:0007064)4.13827156
6macroautophagy (GO:0016236)4.08211565
7monoubiquitinated protein deubiquitination (GO:0035520)3.96553087
8regulation of DNA endoreduplication (GO:0032875)3.95421724
9pre-miRNA processing (GO:0031054)3.95299834
10regulation of centriole replication (GO:0046599)3.80393504
11negative regulation of DNA-dependent DNA replication (GO:2000104)3.70324143
12prenylation (GO:0097354)3.65634778
13protein prenylation (GO:0018342)3.65634778
14regulation of ARF protein signal transduction (GO:0032012)3.64199497
15retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)3.55281623
16positive regulation of histone H3-K4 methylation (GO:0051571)3.55065125
17synaptic vesicle maturation (GO:0016188)3.53631610
18pore complex assembly (GO:0046931)3.38142502
19somatic hypermutation of immunoglobulin genes (GO:0016446)3.26194750
20somatic diversification of immune receptors via somatic mutation (GO:0002566)3.26194750
21snRNA transcription (GO:0009301)3.18691869
22activation of signaling protein activity involved in unfolded protein response (GO:0006987)3.13431362
23phosphatidylinositol dephosphorylation (GO:0046856)3.11987328
24response to lipoprotein particle (GO:0055094)3.11409341
25vesicle coating (GO:0006901)3.08935157
26negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.05095793
27interkinetic nuclear migration (GO:0022027)3.03226606
28establishment of protein localization to Golgi (GO:0072600)3.02679925
29microtubule anchoring (GO:0034453)2.99811490
30vesicle transport along microtubule (GO:0047496)2.97843815
31positive regulation of histone deacetylation (GO:0031065)2.94141839
32regulation of short-term neuronal synaptic plasticity (GO:0048172)2.92819400
33DNA double-strand break processing (GO:0000729)2.92816493
34positive regulation of nuclease activity (GO:0032075)2.92515209
35sister chromatid cohesion (GO:0007062)2.91651001
36nonmotile primary cilium assembly (GO:0035058)2.91194106
37retrograde transport, vesicle recycling within Golgi (GO:0000301)2.88860728
38positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.88756153
39protein targeting to Golgi (GO:0000042)2.88102636
40paraxial mesoderm development (GO:0048339)2.87328489
41regulation of centrosome duplication (GO:0010824)2.86644438
42phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)2.86392363
43cerebellar Purkinje cell differentiation (GO:0021702)2.86355665
44antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.85490172
45positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)2.82624397
46positive regulation of mitotic sister chromatid separation (GO:1901970)2.82624397
47positive regulation of mitotic metaphase/anaphase transition (GO:0045842)2.82624397
48phospholipid dephosphorylation (GO:0046839)2.82505875
49regulation of posttranscriptional gene silencing (GO:0060147)2.82475783
50regulation of gene silencing by miRNA (GO:0060964)2.82475783
51regulation of gene silencing by RNA (GO:0060966)2.82475783
52response to pheromone (GO:0019236)2.79004694
53regulation of histone H3-K9 methylation (GO:0051570)2.76388271
54presynaptic membrane assembly (GO:0097105)2.74395425
55behavioral response to nicotine (GO:0035095)2.72655631
56presynaptic membrane organization (GO:0097090)2.71258202
57insulin secretion (GO:0030073)2.71082189
58nerve growth factor signaling pathway (GO:0038180)2.68622646
59regulation of clathrin-mediated endocytosis (GO:2000369)2.67777969
60regulation of centrosome cycle (GO:0046605)2.66726061
61locomotory exploration behavior (GO:0035641)2.64553937
62regulation of histone H3-K4 methylation (GO:0051569)2.64455265
63retina layer formation (GO:0010842)2.62849048
64cytoplasmic mRNA processing body assembly (GO:0033962)2.62038569
65proline transport (GO:0015824)2.61933787
66regulation of nuclease activity (GO:0032069)2.61789706
67atrial cardiac muscle cell action potential (GO:0086014)2.61537142
68cytoskeletal anchoring at plasma membrane (GO:0007016)2.61356526
69endoplasmic reticulum unfolded protein response (GO:0030968)2.60778734
70activation of protein kinase A activity (GO:0034199)2.60569946
71protein K11-linked deubiquitination (GO:0035871)2.59838613
72regulation of beta-amyloid formation (GO:1902003)2.59072065
73regulation of nuclear cell cycle DNA replication (GO:0033262)2.57869160
74telomere maintenance via telomerase (GO:0007004)2.57646671
75regulation of synaptic vesicle exocytosis (GO:2000300)2.57575310
76negative regulation of translation, ncRNA-mediated (GO:0040033)2.57110232
77regulation of translation, ncRNA-mediated (GO:0045974)2.57110232
78negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.57110232
79sodium ion export (GO:0071436)2.55221574
80nucleus localization (GO:0051647)2.54827072
81regulation of establishment of cell polarity (GO:2000114)2.52607808
82nodal signaling pathway (GO:0038092)2.52483658
83cerebellar Purkinje cell layer development (GO:0021680)2.51709021
84protein localization to endosome (GO:0036010)2.51194454
85replication fork processing (GO:0031297)2.51166451
86clathrin coat assembly (GO:0048268)2.49573931
87cellular response to unfolded protein (GO:0034620)2.49481152
88maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.49132721
89water-soluble vitamin biosynthetic process (GO:0042364)2.47308165
90dorsal/ventral axis specification (GO:0009950)2.47240973
91early endosome to late endosome transport (GO:0045022)2.46511056
92ER-nucleus signaling pathway (GO:0006984)2.46391645
93negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)2.45438513
94apoptotic cell clearance (GO:0043277)2.45419866
95phosphatidylglycerol biosynthetic process (GO:0006655)2.44871684
96intra-Golgi vesicle-mediated transport (GO:0006891)2.44537229
97positive regulation of mRNA processing (GO:0050685)2.42608530
98positive regulation of histone methylation (GO:0031062)2.42195152
99type B pancreatic cell development (GO:0003323)2.42178477
100phosphatidylinositol phosphorylation (GO:0046854)2.42135323
101recombinational repair (GO:0000725)2.41936051
102L-alpha-amino acid transmembrane transport (GO:1902475)2.41720152
103positive regulation of Rap GTPase activity (GO:0032854)2.40641810
104double-strand break repair via homologous recombination (GO:0000724)2.40406946
105insulin-like growth factor receptor signaling pathway (GO:0048009)2.40167524
106acrosome assembly (GO:0001675)2.39780408
107modulation by organism of defense response of other organism involved in symbiotic interaction (GO:02.38674167
108positive regulation by organism of defense response of other organism involved in symbiotic interact2.38674167
109modulation by symbiont of host immune response (GO:0052553)2.38674167
110positive regulation by symbiont of host defense response (GO:0052509)2.38674167
111modulation by symbiont of host defense response (GO:0052031)2.38674167
112modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.38674167
113righting reflex (GO:0060013)2.38544483
114positive regulation of chromosome segregation (GO:0051984)2.36925237
115alanine transport (GO:0032328)2.36813969
116lipid phosphorylation (GO:0046834)2.36727672
117positive regulation of vesicle fusion (GO:0031340)2.34803555
118Golgi organization (GO:0007030)2.33997032
119cellular response to topologically incorrect protein (GO:0035967)2.33736217
120negative regulation of cytosolic calcium ion concentration (GO:0051481)2.33635343
121myelin assembly (GO:0032288)2.33486251
122regulation of translational fidelity (GO:0006450)2.33341634
123chromatin remodeling at centromere (GO:0031055)2.32096313
124stress fiber assembly (GO:0043149)2.31559084
125regulation of amyloid precursor protein catabolic process (GO:1902991)2.31509204
126regulation of sister chromatid cohesion (GO:0007063)2.31480897
127axonal fasciculation (GO:0007413)2.31189188
128regulation of mRNA 3-end processing (GO:0031440)2.31106482
129endoplasmic reticulum organization (GO:0007029)2.30705972
130protein localization to microtubule cytoskeleton (GO:0072698)2.30673122
131embryonic body morphogenesis (GO:0010172)2.30101016
132positive regulation of p38MAPK cascade (GO:1900745)2.29977278
133Golgi to endosome transport (GO:0006895)2.29795309
134auditory receptor cell differentiation (GO:0042491)2.29323139
135regulation of synaptic vesicle transport (GO:1902803)2.29110930
136inner ear receptor cell development (GO:0060119)2.27971351
137regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060211)2.27415830
138positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)2.27415830
139histone H3-K4 trimethylation (GO:0080182)2.26549264
140reflex (GO:0060004)2.26109553
141negative regulation of DNA repair (GO:0045738)2.25884900
142regulation of Rap GTPase activity (GO:0032317)2.25572616
143peptidyl-lysine dimethylation (GO:0018027)2.25452251
144synaptic vesicle docking involved in exocytosis (GO:0016081)2.24478203
145somite rostral/caudal axis specification (GO:0032525)2.24260070
146regulation of Rac protein signal transduction (GO:0035020)2.24173898
147synaptic vesicle endocytosis (GO:0048488)2.23640543
148glycerophospholipid catabolic process (GO:0046475)2.23534840
149protein K6-linked ubiquitination (GO:0085020)2.23264603
150intraciliary transport (GO:0042073)2.22697778
151ether lipid metabolic process (GO:0046485)2.22543962
152detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.21456733
153body morphogenesis (GO:0010171)2.21078205
154regulation of ARF GTPase activity (GO:0032312)2.21061146
155RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.18697555
156regulation of meiosis I (GO:0060631)2.18157795
157mitotic spindle organization (GO:0007052)2.18077488
158chemosensory behavior (GO:0007635)2.17797025
159glomerular visceral epithelial cell development (GO:0072015)2.17786982
160CENP-A containing nucleosome assembly (GO:0034080)2.17204673
161negative regulation of histone methylation (GO:0031061)2.16992425
162cilium morphogenesis (GO:0060271)2.16843623
163COPII vesicle coating (GO:0048208)2.16416555
164mannose metabolic process (GO:0006013)2.15934601
165glandular epithelial cell development (GO:0002068)2.15903572
166regulation of mitotic sister chromatid separation (GO:0010965)2.15721462
167regulation of mitotic sister chromatid segregation (GO:0033047)2.15721462
168regulation of sister chromatid segregation (GO:0033045)2.15721462
169regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022352.15614661
170nephron tubule morphogenesis (GO:0072078)2.15240122
171macrophage activation involved in immune response (GO:0002281)2.14200305
172organelle transport along microtubule (GO:0072384)2.14179580
173phospholipid translocation (GO:0045332)2.13805018
174lipid translocation (GO:0034204)2.13805018
175synaptic vesicle exocytosis (GO:0016079)2.12506402
176cortical actin cytoskeleton organization (GO:0030866)2.12281535
177cellular potassium ion homeostasis (GO:0030007)2.11530009
178regulation of cellular amide metabolic process (GO:0034248)2.10972433
179positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.09902540
180positive regulation of fibroblast migration (GO:0010763)2.09520887
181establishment of nucleus localization (GO:0040023)2.08684821
182plasma membrane repair (GO:0001778)2.08469661
183protein retention in ER lumen (GO:0006621)2.08202206
184innervation (GO:0060384)2.07314995
185cell adhesion mediated by integrin (GO:0033627)2.06101224
186neuromuscular process controlling balance (GO:0050885)2.05274013
187negative regulation of cell killing (GO:0031342)2.04827024
188negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.04827024
189glutamate secretion (GO:0014047)2.04797419
190adenosine receptor signaling pathway (GO:0001973)2.04750842
191regulation of synapse structural plasticity (GO:0051823)2.04616791
192adaptation of signaling pathway (GO:0023058)2.04415129
193regulation of regulated secretory pathway (GO:1903305)2.03462539

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1SALL1_21062744_ChIP-ChIP_HESCs_Human3.74533262
2E2F7_22180533_ChIP-Seq_HELA_Human3.06634851
3FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.90924088
4POU3F2_20337985_ChIP-ChIP_501MEL_Human2.80359863
5FUS_26573619_Chip-Seq_HEK293_Human2.65787914
6EGR1_19374776_ChIP-ChIP_THP-1_Human2.57068799
7NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.56080619
8SMAD_19615063_ChIP-ChIP_OVARY_Human2.39606730
9RBPJ_22232070_ChIP-Seq_NCS_Mouse2.34102027
10EWS_26573619_Chip-Seq_HEK293_Human2.30680920
11TAF15_26573619_Chip-Seq_HEK293_Human2.25640461
12ZFP57_27257070_Chip-Seq_ESCs_Mouse2.24527502
13GATA1_22025678_ChIP-Seq_K562_Human2.21494761
14GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.12047864
15ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.10980904
16VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human2.09056627
17Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.06633735
18* SPI1_23127762_ChIP-Seq_K562_Human2.05172296
19DROSHA_22980978_ChIP-Seq_HELA_Human2.00393150
20EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.99750503
21BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.99197716
22* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.97188635
23ZNF274_21170338_ChIP-Seq_K562_Hela1.92753371
24STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.91681401
25P300_19829295_ChIP-Seq_ESCs_Human1.90970563
26FLI1_27457419_Chip-Seq_LIVER_Mouse1.89678054
27MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.81992491
28E2F4_17652178_ChIP-ChIP_JURKAT_Human1.79879295
29* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.77918533
30RARB_27405468_Chip-Seq_BRAIN_Mouse1.77666932
31SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.75606276
32MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.72245902
33VDR_22108803_ChIP-Seq_LS180_Human1.70988739
34* DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.69642566
35CTBP2_25329375_ChIP-Seq_LNCAP_Human1.69288752
36GATA2_21666600_ChIP-Seq_HMVEC_Human1.67191373
37* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.66944162
38* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.65670210
39HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.64213831
40* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.63107827
41ELK1_19687146_ChIP-ChIP_HELA_Human1.62736702
42EZH2_22144423_ChIP-Seq_EOC_Human1.61104133
43TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.60694902
44* MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.57004215
45PCGF2_27294783_Chip-Seq_ESCs_Mouse1.56408305
46SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.54769123
47WT1_19549856_ChIP-ChIP_CCG9911_Human1.53929147
48TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.52966081
49RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.51938367
50STAT6_21828071_ChIP-Seq_BEAS2B_Human1.51876930
51* NANOG_18555785_Chip-Seq_ESCs_Mouse1.51435572
52* EZH2_27294783_Chip-Seq_NPCs_Mouse1.51053648
53IRF8_27001747_Chip-Seq_BMDM_Mouse1.50582042
54* SUZ12_27294783_Chip-Seq_NPCs_Mouse1.50394388
55* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.50188761
56GBX2_23144817_ChIP-Seq_PC3_Human1.50149980
57OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.49370469
58ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.48354945
59GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.47832848
60CTNNB1_20460455_ChIP-Seq_HCT116_Human1.45957806
61SMAD3_21741376_ChIP-Seq_EPCs_Human1.45872470
62NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.45296712
63E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.43580407
64NOTCH1_21737748_ChIP-Seq_TLL_Human1.42774335
65CTBP1_25329375_ChIP-Seq_LNCAP_Human1.42225991
66CDX2_19796622_ChIP-Seq_MESCs_Mouse1.41647061
67KDM2B_26808549_Chip-Seq_K562_Human1.40082650
68* STAT3_23295773_ChIP-Seq_U87_Human1.40017868
69* E2F1_18555785_Chip-Seq_ESCs_Mouse1.39960062
70NR3C1_23031785_ChIP-Seq_PC12_Mouse1.39240052
71CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.37977201
72PCGF2_27294783_Chip-Seq_NPCs_Mouse1.37192983
73KDM2B_26808549_Chip-Seq_DND41_Human1.37049259
74FOXO3_23340844_ChIP-Seq_DLD1_Human1.36319119
75UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.35852782
76RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.35763678
77* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.35493719
78SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.34375906
79ER_23166858_ChIP-Seq_MCF-7_Human1.34011426
80* NFE2_27457419_Chip-Seq_LIVER_Mouse1.33722989
81* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.33661814
82AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.33566430
83IRF1_19129219_ChIP-ChIP_H3396_Human1.32608733
84TOP2B_26459242_ChIP-Seq_MCF-7_Human1.31820044
85GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.31429177
86KDM2B_26808549_Chip-Seq_SUP-B15_Human1.29989475
87TP53_16413492_ChIP-PET_HCT116_Human1.29290228
88TCF7_22412390_ChIP-Seq_EML_Mouse1.28702534
89* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.28354651
90IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.28331339
91CBP_20019798_ChIP-Seq_JUKART_Human1.28331339
92SCL_19346495_ChIP-Seq_HPC-7_Human1.26539253
93KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.26341430
94FOXM1_26456572_ChIP-Seq_MCF-7_Human1.26235782
95* CMYC_18555785_Chip-Seq_ESCs_Mouse1.26081212
96NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.24413302
97* SUZ12_18555785_Chip-Seq_ESCs_Mouse1.23951737
98* P53_22387025_ChIP-Seq_ESCs_Mouse1.23291716
99BCAT_22108803_ChIP-Seq_LS180_Human1.22854230
100IRF8_21731497_ChIP-ChIP_J774_Mouse1.22671627
101* MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.21074228
102RXR_22108803_ChIP-Seq_LS180_Human1.20797932
103WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.20472408
104SOX2_21211035_ChIP-Seq_LN229_Gbm1.20434371
105JUN_21703547_ChIP-Seq_K562_Human1.20235295
106POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.18260989
107TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.18260989
108BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.17845797
109* P300_18555785_Chip-Seq_ESCs_Mouse1.17558525
110TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.17500521
111AR_25329375_ChIP-Seq_VCAP_Human1.17265796
112FOXA2_19822575_ChIP-Seq_HepG2_Human1.17203431
113STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.16984973
114IRF8_22096565_ChIP-ChIP_GC-B_Human1.16565813
115AR_21572438_ChIP-Seq_LNCaP_Human1.16053643
116AHR_22903824_ChIP-Seq_MCF-7_Human1.15888773
117REST_21632747_ChIP-Seq_MESCs_Mouse1.15228348
118* SMAD4_21799915_ChIP-Seq_A2780_Human1.15211214
119PADI4_21655091_ChIP-ChIP_MCF-7_Human1.15037032
120ELK4_26923725_Chip-Seq_MESODERM_Mouse1.14978718
121* STAT3_18555785_Chip-Seq_ESCs_Mouse1.14973940
122* CRX_20693478_ChIP-Seq_RETINA_Mouse1.14206690
123* NMYC_18555785_Chip-Seq_ESCs_Mouse1.13840799
124* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.13705793
125* EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.12826350
126POU5F1_16153702_ChIP-ChIP_HESCs_Human1.12661456
127FLI1_21867929_ChIP-Seq_TH2_Mouse1.12637259
128TCF4_22108803_ChIP-Seq_LS180_Human1.12100019
129* OCT4_18555785_Chip-Seq_ESCs_Mouse1.11826817
130RUNX2_22187159_ChIP-Seq_PCA_Human1.11801379
131* OCT4_21477851_ChIP-Seq_ESCs_Mouse1.11331687
132CDX2_22108803_ChIP-Seq_LS180_Human1.11035170
133* MYB_21317192_ChIP-Seq_ERMYB_Mouse1.10726940
134NR3C1_21868756_ChIP-Seq_MCF10A_Human1.10210849
135* SOX2_18555785_Chip-Seq_ESCs_Mouse1.09606343
136TP63_19390658_ChIP-ChIP_HaCaT_Human1.09469280
137FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human1.08799099
138GATA1_19941826_ChIP-Seq_K562_Human1.08651563
139E2F1_21310950_ChIP-Seq_MCF-7_Human1.07772901
140P300_27058665_Chip-Seq_ZR-75-30cells_Human1.07584436
141YAP1_20516196_ChIP-Seq_MESCs_Mouse1.07502467
142STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.06978426
143EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.06908382
144AR_19668381_ChIP-Seq_PC3_Human1.06393433
145RUNX_20019798_ChIP-Seq_JUKART_Human1.06008893
146BRD4_25478319_ChIP-Seq_HGPS_Human1.04422328
147SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.03872198
148TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.03458554
149MYC_18940864_ChIP-ChIP_HL60_Human1.02945370
150KLF5_20875108_ChIP-Seq_MESCs_Mouse1.02886018
151TCF4_23295773_ChIP-Seq_U87_Human1.02673822
152IKZF1_21737484_ChIP-ChIP_HCT116_Human1.02667974
153KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.02633149
154PKCTHETA_26484144_Chip-Seq_BREAST_Human1.02141768
155PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.01526934
156* TBL1_22424771_ChIP-Seq_293T_Human1.01500806
157KDM2B_26808549_Chip-Seq_JURKAT_Human1.01156284
158* SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.01049837
159ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.00434171
160* ARNT_22903824_ChIP-Seq_MCF-7_Human1.00039388
161VDR_24787735_ChIP-Seq_THP-1_Human0.99997691
162ESR2_21235772_ChIP-Seq_MCF-7_Human0.99865609
163PIAS1_25552417_ChIP-Seq_VCAP_Human0.98907943
164FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.98335258
165E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.98217416
166STAT3_20064451_ChIP-Seq_CD4+T_Mouse0.98026436
167ESR1_21235772_ChIP-Seq_MCF-7_Human0.95825723
168ZFP281_27345836_Chip-Seq_ESCs_Mouse0.95456221
169MTF2_20144788_ChIP-Seq_MESCs_Mouse0.94886743
170* BRD4_27068464_Chip-Seq_AML-cells_Mouse0.94117899
171SMAD3_21741376_ChIP-Seq_ESCs_Human0.93084749
172PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.92756174
173IGF1R_20145208_ChIP-Seq_DFB_Human0.92250184
174GATA1_19941827_ChIP-Seq_MEL_Mouse0.90147276
175NRF2_20460467_ChIP-Seq_MEFs_Mouse0.88856935
176NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.88856935
177TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.88287630
178SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.87964997
179GATA2_19941826_ChIP-Seq_K562_Human0.87027509
180FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse0.86693151
181NFIB_24661679_ChIP-Seq_LUNG_Mouse0.86620212
182GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.86169287
183SOX9_24532713_ChIP-Seq_HFSC_Mouse0.86146282
184* MITF_21258399_ChIP-Seq_MELANOMA_Human0.85643873

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000569_abnormal_digit_pigmentation6.51923181
2MP0009780_abnormal_chondrocyte_physiolo4.29893457
3MP0008057_abnormal_DNA_replication3.97924747
4MP0003172_abnormal_lysosome_physiology3.95127599
5MP0003183_abnormal_peptide_metabolism3.35916524
6MP0008877_abnormal_DNA_methylation3.25500300
7MP0004859_abnormal_synaptic_plasticity3.10299012
8MP0003890_abnormal_embryonic-extraembry3.06334683
9MP0002877_abnormal_melanocyte_morpholog3.03203044
10MP0005058_abnormal_lysosome_morphology2.97800706
11MP0003300_gastrointestinal_ulcer2.80541221
12MP0000013_abnormal_adipose_tissue2.80069948
13MP0002909_abnormal_adrenal_gland2.73609336
14MP0003045_fibrosis2.59459085
15MP0003941_abnormal_skin_development2.53144185
16MP0006292_abnormal_olfactory_placode2.49574846
17MP0005379_endocrine/exocrine_gland_phen2.33907797
18MP0003121_genomic_imprinting2.29899683
19MP0003283_abnormal_digestive_organ2.25963309
20MP0000427_abnormal_hair_cycle2.24802420
21MP0003705_abnormal_hypodermis_morpholog2.08020215
22MP0002163_abnormal_gland_morphology2.07785085
23MP0001984_abnormal_olfaction1.92800408
24MP0006072_abnormal_retinal_apoptosis1.92100593
25MP0010234_abnormal_vibrissa_follicle1.90397803
26MP0008961_abnormal_basal_metabolism1.87722190
27MP0010094_abnormal_chromosome_stability1.83669093
28MP0003787_abnormal_imprinting1.80347219
29MP0005257_abnormal_intraocular_pressure1.80264537
30MP0003091_abnormal_cell_migration1.77597969
31MP0002938_white_spotting1.73670943
32MP0001188_hyperpigmentation1.70997320
33MP0000003_abnormal_adipose_tissue1.68103133
34MP0003566_abnormal_cell_adhesion1.66593084
35MP0004270_analgesia1.60296890
36MP0005248_abnormal_Harderian_gland1.59397246
37MP0010307_abnormal_tumor_latency1.58303652
38MP0002693_abnormal_pancreas_physiology1.57038402
39MP0005551_abnormal_eye_electrophysiolog1.56739205
40MP0002837_dystrophic_cardiac_calcinosis1.56547893
41MP0008058_abnormal_DNA_repair1.55897392
42MP0004858_abnormal_nervous_system1.55604110
43MP0003191_abnormal_cellular_cholesterol1.54427591
44MP0010386_abnormal_urinary_bladder1.52105783
45MP0000015_abnormal_ear_pigmentation1.51189293
46MP0005174_abnormal_tail_pigmentation1.51112632
47MP0003635_abnormal_synaptic_transmissio1.49537754
48MP0004185_abnormal_adipocyte_glucose1.45413749
49MP0008438_abnormal_cutaneous_collagen1.44763167
50MP0003303_peritoneal_inflammation1.42912208
51MP0000371_diluted_coat_color1.41153892
52MP0003122_maternal_imprinting1.38278983
53MP0002254_reproductive_system_inflammat1.37368016
54MP0002009_preneoplasia1.35987588
55MP0000631_abnormal_neuroendocrine_gland1.35442482
56MP0000778_abnormal_nervous_system1.35096907
57MP0005187_abnormal_penis_morphology1.32832077
58MP0002095_abnormal_skin_pigmentation1.32512192
59MP0005670_abnormal_white_adipose1.31972780
60MP0000604_amyloidosis1.31517500
61MP0005623_abnormal_meninges_morphology1.30928553
62MP0005076_abnormal_cell_differentiation1.30413476
63MP0010678_abnormal_skin_adnexa1.30262546
64MP0004510_myositis1.27720310
65MP0003690_abnormal_glial_cell1.27624349
66MP0000383_abnormal_hair_follicle1.26517416
67MP0005220_abnormal_exocrine_pancreas1.25062066
68MP0003937_abnormal_limbs/digits/tail_de1.24914597
69MP0004233_abnormal_muscle_weight1.24164316
70MP0005375_adipose_tissue_phenotype1.21612093
71MP0004885_abnormal_endolymph1.21015890
72MP0000647_abnormal_sebaceous_gland1.19676605
73MP0010352_gastrointestinal_tract_polyps1.18540596
74MP0005253_abnormal_eye_physiology1.14852133
75MP0003111_abnormal_nucleus_morphology1.14501248
76MP0004957_abnormal_blastocyst_morpholog1.14093569
77MP0003123_paternal_imprinting1.12904551
78MP0002063_abnormal_learning/memory/cond1.12258928
79MP0003329_amyloid_beta_deposits1.12187659
80MP0001944_abnormal_pancreas_morphology1.12042601
81MP0003786_premature_aging1.10458270
82MP0004264_abnormal_extraembryonic_tissu1.09963877
83MP0003633_abnormal_nervous_system1.09954151
84MP0009697_abnormal_copulation1.08829019
85MP0002177_abnormal_outer_ear1.06962678
86MP0005167_abnormal_blood-brain_barrier1.06930182
87MP0001299_abnormal_eye_distance/1.06512963
88MP0004142_abnormal_muscle_tone1.05454764
89MP0009046_muscle_twitch1.05184853
90MP0005408_hypopigmentation1.05000803
91MP0003567_abnormal_fetal_cardiomyocyte1.04726632
92MP0004811_abnormal_neuron_physiology1.03238603
93MP0009278_abnormal_bone_marrow1.02861487
94MP0002102_abnormal_ear_morphology1.01335395
95MP0003718_maternal_effect1.00618642
96MP0003279_aneurysm1.00347501
97MP0002084_abnormal_developmental_patter1.00155840
98MP0001529_abnormal_vocalization0.98089316
99MP0002184_abnormal_innervation0.97833225
100MP0002078_abnormal_glucose_homeostasis0.97146684
101MP0002928_abnormal_bile_duct0.97041668
102MP0005310_abnormal_salivary_gland0.96926790
103MP0005464_abnormal_platelet_physiology0.96617682
104MP0005645_abnormal_hypothalamus_physiol0.96581519
105MP0002090_abnormal_vision0.96084537
106MP0001324_abnormal_eye_pigmentation0.95957700
107MP0002064_seizures0.95783845
108MP0003077_abnormal_cell_cycle0.95456749
109MP0003075_altered_response_to0.95023196
110MP0002896_abnormal_bone_mineralization0.95020273
111MP0003634_abnormal_glial_cell0.94568867
112MP0003195_calcinosis0.93824155
113MP0005666_abnormal_adipose_tissue0.93002053
114MP0002697_abnormal_eye_size0.92402157
115MP0004130_abnormal_muscle_cell0.91976291
116MP0002876_abnormal_thyroid_physiology0.91441453
117MP0002272_abnormal_nervous_system0.91419346
118MP0002572_abnormal_emotion/affect_behav0.89120262
119MP0001958_emphysema0.88325299
120MP0008932_abnormal_embryonic_tissue0.88108144
121MP0003632_abnormal_nervous_system0.87089110
122MP0001186_pigmentation_phenotype0.85518678
123MP0003631_nervous_system_phenotype0.85459459
124MP0001286_abnormal_eye_development0.85098141
125MP0009703_decreased_birth_body0.83938951
126MP0001293_anophthalmia0.82949629
127MP0002168_other_aberrant_phenotype0.82885779
128MP0000566_synostosis0.82706641
129MP0000747_muscle_weakness0.82653491
130MP0002233_abnormal_nose_morphology0.81999134
131MP0008569_lethality_at_weaning0.81427623
132MP0005395_other_phenotype0.80411007
133MP0004134_abnormal_chest_morphology0.79234404
134MP0009745_abnormal_behavioral_response0.78858314
135MP0000428_abnormal_craniofacial_morphol0.77875658
136MP0005621_abnormal_cell_physiology0.77644609
137MP0004133_heterotaxia0.77300464
138MP0001501_abnormal_sleep_pattern0.77198598
139MP0003943_abnormal_hepatobiliary_system0.76506326
140MP0001440_abnormal_grooming_behavior0.76320580
141MP0005195_abnormal_posterior_eye0.76096737
142MP0002557_abnormal_social/conspecific_i0.75974122
143MP0005394_taste/olfaction_phenotype0.75855301
144MP0005499_abnormal_olfactory_system0.75855301
145MP0002075_abnormal_coat/hair_pigmentati0.75289415
146MP0000579_abnormal_nail_morphology0.74923053
147MP0002089_abnormal_postnatal_growth/wei0.73206935
148MP0003861_abnormal_nervous_system0.72754388
149MP0004947_skin_inflammation0.72238063
150MP0006276_abnormal_autonomic_nervous0.72122800
151MP0000955_abnormal_spinal_cord0.71590960
152MP0002269_muscular_atrophy0.70965205
153MP0000733_abnormal_muscle_development0.70928766
154MP0008007_abnormal_cellular_replicative0.70498134
155MP0005386_behavior/neurological_phenoty0.69551754
156MP0004924_abnormal_behavior0.69551754
157MP0008789_abnormal_olfactory_epithelium0.69393868
158MP0001697_abnormal_embryo_size0.69374851
159MP0003868_abnormal_feces_composition0.69200696
160MP0000372_irregular_coat_pigmentation0.68101320
161MP0009840_abnormal_foam_cell0.67931512
162MP0001502_abnormal_circadian_rhythm0.65751164
163MP0002733_abnormal_thermal_nociception0.64928956
164MP0005646_abnormal_pituitary_gland0.64918795
165MP0005448_abnormal_energy_balance0.64046236
166MP0002734_abnormal_mechanical_nocicepti0.63648309
167MP0002998_abnormal_bone_remodeling0.63030223
168MP0001533_abnormal_skeleton_physiology0.62732782
169MP0001486_abnormal_startle_reflex0.60871235
170MP0005535_abnormal_body_temperature0.60794005
171MP0001970_abnormal_pain_threshold0.60138613
172MP0002419_abnormal_innate_immunity0.59704919
173MP0001270_distended_abdomen0.58681570
174MP0003879_abnormal_hair_cell0.58417438
175MP0005023_abnormal_wound_healing0.57934498
176MP0002229_neurodegeneration0.57423770
177MP0002067_abnormal_sensory_capabilities0.57059271
178MP0001915_intracranial_hemorrhage0.56729351
179MP0006054_spinal_hemorrhage0.56015885

Predicted human phenotypes

RankGene SetZ-score
1Elevated circulating parathyroid hormone (PTH) level (HP:0003165)3.74899205
2Chromsome breakage (HP:0040012)3.40981822
3Macroorchidism (HP:0000053)3.25513526
4Pancreatic fibrosis (HP:0100732)3.13999412
5Molar tooth sign on MRI (HP:0002419)3.13599709
6Abnormality of midbrain morphology (HP:0002418)3.13599709
7Increased cerebral lipofuscin (HP:0011813)2.99856883
8Cerebral aneurysm (HP:0004944)2.99497000
9Pancreatic cysts (HP:0001737)2.94448339
10Chromosomal breakage induced by crosslinking agents (HP:0003221)2.91197336
11Abnormality of the renal cortex (HP:0011035)2.89513365
12Nephronophthisis (HP:0000090)2.79827457
13Abnormality of mucopolysaccharide metabolism (HP:0011020)2.77237772
14Abnormality of polysaccharide metabolism (HP:0011012)2.77237772
15Abnormality of glycosaminoglycan metabolism (HP:0004371)2.77237772
16Abnormality of the renal medulla (HP:0100957)2.74873588
17Chronic hepatic failure (HP:0100626)2.67203113
18Mucopolysacchariduria (HP:0008155)2.63772280
19Urinary glycosaminoglycan excretion (HP:0003541)2.63772280
20Dysostosis multiplex (HP:0000943)2.62731751
21Long toe (HP:0010511)2.61677186
22Abnormal pancreas size (HP:0012094)2.61582862
23Abnormality of chromosome stability (HP:0003220)2.60684151
24Abnormality of the labia minora (HP:0012880)2.60370409
25Neoplasm of the adrenal cortex (HP:0100641)2.58397665
26Visual hallucinations (HP:0002367)2.54535165
27Tubular atrophy (HP:0000092)2.50766701
28Supranuclear gaze palsy (HP:0000605)2.49246726
29Urethral obstruction (HP:0000796)2.48590226
30Abnormality of calcium-phosphate metabolism (HP:0100530)2.46177388
31Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.45502604
32Abnormality of glycolipid metabolism (HP:0010969)2.44469075
33Abnormality of liposaccharide metabolism (HP:0010968)2.44469075
34Abnormality of glycosphingolipid metabolism (HP:0004343)2.44469075
35Papilledema (HP:0001085)2.42618847
36Distal upper limb amyotrophy (HP:0007149)2.40895733
37Upper limb amyotrophy (HP:0009129)2.40895733
38Hand muscle atrophy (HP:0009130)2.37767972
39Ectopic kidney (HP:0000086)2.33112477
40Colon cancer (HP:0003003)2.31150403
41Increased neuronal autofluorescent lipopigment (HP:0002074)2.29869993
42Medial flaring of the eyebrow (HP:0010747)2.28576876
43Hepatoblastoma (HP:0002884)2.27024661
44True hermaphroditism (HP:0010459)2.26792314
45Insulin-resistant diabetes mellitus (HP:0000831)2.24923264
46Protruding tongue (HP:0010808)2.24312654
47Fair hair (HP:0002286)2.22937577
48Drooling (HP:0002307)2.22549528
49Striae distensae (HP:0001065)2.19990336
50Hyperventilation (HP:0002883)2.15347395
51Absent frontal sinuses (HP:0002688)2.14808041
52Generalized hypopigmentation of hair (HP:0011358)2.14412639
53Neoplasm of the heart (HP:0100544)2.14301280
54Aplasia/Hypoplasia of the uvula (HP:0010293)2.12850843
55Oligodactyly (hands) (HP:0001180)2.12592616
56Rhabdomyosarcoma (HP:0002859)2.10673409
57Progressive cerebellar ataxia (HP:0002073)2.10452366
58Buphthalmos (HP:0000557)2.09950785
59Nephroblastoma (Wilms tumor) (HP:0002667)2.09604387
60Hypoplastic ischia (HP:0003175)2.07065716
61Cervical subluxation (HP:0003308)2.05261474
62Lower limb amyotrophy (HP:0007210)2.04807936
63Birth length less than 3rd percentile (HP:0003561)2.03815524
64Gaze-evoked nystagmus (HP:0000640)2.03465240
65Neuronal loss in central nervous system (HP:0002529)2.03263688
66Astrocytoma (HP:0009592)2.01388759
67Abnormality of the astrocytes (HP:0100707)2.01388759
68Thyroid carcinoma (HP:0002890)2.01142608
69Broad-based gait (HP:0002136)2.00169303
70Action tremor (HP:0002345)2.00086043
71Proximal tubulopathy (HP:0000114)2.00050246
72Curly hair (HP:0002212)1.98920213
73Aqueductal stenosis (HP:0002410)1.98438396
74Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.98308514
75Embryonal renal neoplasm (HP:0011794)1.97360628
76Highly arched eyebrow (HP:0002553)1.97090931
77Focal seizures (HP:0007359)1.97078981
78* Hypoplastic labia majora (HP:0000059)1.96635115
79Urinary bladder sphincter dysfunction (HP:0002839)1.96437348
80Ocular albinism (HP:0001107)1.95668986
81Bifid tongue (HP:0010297)1.95638599
82Abnormality of DNA repair (HP:0003254)1.94698903
83Congenital stationary night blindness (HP:0007642)1.94635418
84Agitation (HP:0000713)1.94149369
85Widely spaced teeth (HP:0000687)1.93157271
86Aplasia/Hypoplasia of the tongue (HP:0010295)1.93145221
87Genital tract atresia (HP:0001827)1.93017748
88Resting tremor (HP:0002322)1.91959059
89Congenital primary aphakia (HP:0007707)1.91515292
90Gait imbalance (HP:0002141)1.90943942
91Excessive salivation (HP:0003781)1.90879334
92Stenosis of the external auditory canal (HP:0000402)1.90805060
93Albinism (HP:0001022)1.90546089
94Abnormality of the periventricular white matter (HP:0002518)1.89989576
95Aneurysm (HP:0002617)1.89724047
96Cystic liver disease (HP:0006706)1.87553203
97Frequent falls (HP:0002359)1.87446836
98Febrile seizures (HP:0002373)1.86492492
99Generalized hypopigmentation (HP:0007513)1.86492378
100Sloping forehead (HP:0000340)1.86067751
101Intestinal atresia (HP:0011100)1.85613323
102Glioma (HP:0009733)1.85579184
103Heterotopia (HP:0002282)1.85459581
104Congenital glaucoma (HP:0001087)1.83458875
105Insidious onset (HP:0003587)1.83114295
106Termporal pattern (HP:0011008)1.83114295
107Narrow palate (HP:0000189)1.82426862
108Spondylolisthesis (HP:0003302)1.82148035
109Impaired vibration sensation in the lower limbs (HP:0002166)1.81166005
110Poor coordination (HP:0002370)1.80833586
111* Labial hypoplasia (HP:0000066)1.79652998
112Open mouth (HP:0000194)1.79499141
113Apathy (HP:0000741)1.79309487
114Aortic aneurysm (HP:0004942)1.78823938
115Truncal ataxia (HP:0002078)1.78531797
116* Prominent nasal bridge (HP:0000426)1.78180697
117Vaginal atresia (HP:0000148)1.77926685
118Increased nuchal translucency (HP:0010880)1.77620634
119Hyperinsulinemic hypoglycemia (HP:0000825)1.77575280
120Abnormal lung lobation (HP:0002101)1.77553385
121Coarse hair (HP:0002208)1.77450829
122Progressive hearing impairment (HP:0001730)1.77280464
123Nephrogenic diabetes insipidus (HP:0009806)1.76246055
124Abnormality of the ischium (HP:0003174)1.76175221
125Supernumerary spleens (HP:0009799)1.75514251
126Distal lower limb amyotrophy (HP:0008944)1.75040994
127Renal cortical cysts (HP:0000803)1.74504979
128Loss of speech (HP:0002371)1.74307137
129Hyperacusis (HP:0010780)1.74261316
130Truncal obesity (HP:0001956)1.74042627
131Volvulus (HP:0002580)1.73731655
132Mask-like facies (HP:0000298)1.73559052
133Postural instability (HP:0002172)1.72813021
134Genetic anticipation (HP:0003743)1.72316512
135Narrow forehead (HP:0000341)1.72055452
136Cerebral inclusion bodies (HP:0100314)1.71942315
137Periodontitis (HP:0000704)1.71450297
138Ependymoma (HP:0002888)1.71113499
139Arterial tortuosity (HP:0005116)1.70750798
140Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.70717081
141Aplasia/Hypoplasia affecting the retina (HP:0008061)1.70393309
142Depression (HP:0000716)1.69756338
143Spinal canal stenosis (HP:0003416)1.69727321
144* Abnormality of the labia majora (HP:0012881)1.69682699
145Skin nodule (HP:0200036)1.69600878
146Papillary thyroid carcinoma (HP:0002895)1.68886124
147Biliary tract neoplasm (HP:0100574)1.68328440
148Symptomatic seizures (HP:0011145)1.68314452
149Meckel diverticulum (HP:0002245)1.67347110
150Postaxial hand polydactyly (HP:0001162)1.67231540
151Bowel diverticulosis (HP:0005222)1.66664228
152Methylmalonic acidemia (HP:0002912)1.66108646
153Pointed chin (HP:0000307)1.65605874
154Cerebellar dysplasia (HP:0007033)1.65430407
155Abnormality of the fingertips (HP:0001211)1.65214955
156Gingivitis (HP:0000230)1.65121635
157Dandy-Walker malformation (HP:0001305)1.64858664
158Multicystic kidney dysplasia (HP:0000003)1.64539970
159Hemiplegia (HP:0002301)1.64280459
160Aplasia/Hypoplasia of the macula (HP:0008059)1.63507520
161Recurrent bacterial skin infections (HP:0005406)1.62588177
162Menstrual irregularities (HP:0000858)1.62461316
163Impaired smooth pursuit (HP:0007772)1.62345229
164Abnormal biliary tract morphology (HP:0012440)1.62337068
165Neoplasm of the oral cavity (HP:0100649)1.62317185
166Spinal muscular atrophy (HP:0007269)1.61162981
167Hyperglycemia (HP:0003074)1.60119516
168Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.59590295
169Obsessive-compulsive behavior (HP:0000722)1.59577143
170Facial hemangioma (HP:0000329)1.59394162
171Diastasis recti (HP:0001540)1.58736543
172Small hand (HP:0200055)1.58565661
173Type II lissencephaly (HP:0007260)1.58386032
174Increased CSF protein (HP:0002922)1.58368026
175Retinal atrophy (HP:0001105)1.58122275
176Abnormality of macular pigmentation (HP:0008002)1.58036989
177Iris hypopigmentation (HP:0007730)1.57898737
178Diminished motivation (HP:0000745)1.57654293
179Turricephaly (HP:0000262)1.57093364
180Disinhibition (HP:0000734)1.57022630
181Abnormality of the duodenum (HP:0002246)1.56757082
182Inappropriate behavior (HP:0000719)1.56739509
183Astigmatism (HP:0000483)1.56644696
184Postural tremor (HP:0002174)1.56204479
185Lissencephaly (HP:0001339)1.56144308
186Aplasia/Hypoplasia of the spleen (HP:0010451)1.56125433
187Enlarged penis (HP:0000040)1.55859242
188Postaxial foot polydactyly (HP:0001830)1.55715053
189Abnormality of the corticospinal tract (HP:0002492)1.55310378
190Atonic seizures (HP:0010819)1.55212518
191Lower limb muscle weakness (HP:0007340)1.55008887
192Abnormality of the carotid arteries (HP:0005344)1.54821518
193Severe short stature (HP:0003510)1.54577345
194Duodenal stenosis (HP:0100867)1.54459091
195Small intestinal stenosis (HP:0012848)1.54459091
196Abnormal biliary tract physiology (HP:0012439)1.54062086
197Bile duct proliferation (HP:0001408)1.54062086

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PRKD33.76296414
2WNK33.19762409
3TAOK32.98355939
4MAP3K92.84780499
5SCYL22.82946423
6CASK2.66452755
7TNIK2.57883777
8TRIB32.43315622
9ZAK2.41428399
10BMPR1B2.33653431
11BRSK22.33408569
12CDC72.19453273
13NTRK32.15972858
14MAP3K132.14203372
15CAMK1G2.11971781
16MKNK22.10324702
17CAMK1D1.94150178
18STK38L1.92195012
19INSRR1.89852070
20TAF11.88966704
21CDK121.84496620
22KSR21.84491181
23NTRK11.83635544
24EEF2K1.82539068
25ACVR1B1.78284159
26RIPK11.72815958
27PRKCH1.67006569
28TTK1.66966666
29MAP3K21.60047031
30SIK21.58957894
31RIPK41.58954347
32FGFR21.57087790
33PDGFRA1.55629503
34PKN21.55425619
35NUAK11.49826742
36ERN11.46613873
37TTN1.46168635
38CAMKK11.46123775
39MKNK11.45739992
40CAMKK21.44284893
41PTK61.43478032
42PAK61.42487698
43EIF2AK31.40457178
44STK241.38576624
45HIPK21.36811052
46FES1.28204684
47BMPR21.28011613
48RET1.26794857
49SGK31.25533266
50PLK31.17620355
51PDGFRB1.17174759
52WNK41.16329080
53SIK11.15047548
54MAP3K41.13101643
55BRD41.12159795
56JAK11.10593374
57LATS11.09465767
58WNK11.09206115
59EPHB11.08822102
60FLT31.07095841
61GRK11.07084585
62NLK1.06691526
63PRKD21.05078889
64ALK1.04797884
65MARK21.04193429
66PNCK1.03557258
67PTK21.03167807
68YES10.96972488
69FRK0.96290649
70ATM0.96076861
71MTOR0.92992153
72DMPK0.92530720
73TEC0.92077062
74DAPK20.92022102
75TAOK10.90863108
76TGFBR10.89852941
77TLK10.89470441
78SGK20.89091204
79ADRBK20.88996130
80CDK30.88885605
81NEK90.86364984
82STK380.85544994
83PIK3CG0.85333028
84RPS6KA20.85165471
85PRKCE0.85123326
86STK390.85002474
87CDK50.83509207
88MAP3K10.83102994
89MST40.80253551
90TSSK60.79867042
91PASK0.79589422
92CDC42BPA0.79283154
93WEE10.78865541
94KSR10.76885791
95SGK10.76791747
96PLK10.75740324
97PDK10.74714457
98CHEK20.74108039
99OXSR10.73386696
100HCK0.73218371
101PDPK10.72963794
102CSNK1E0.72541821
103FGFR30.72058800
104KIT0.69944015
105SGK2230.69295172
106SGK4940.69295172
107MAPK100.68638858
108ATR0.67439837
109PTK2B0.65928070
110PRKAA10.65670605
111DYRK30.63691333
112MARK10.63214126
113BCR0.63098200
114JAK20.62626048
115NEK20.62492615
116RPS6KB20.60828930
117PLK40.59696051
118MAPK150.57730499
119ERBB30.57559181
120PAK30.56956605
121FER0.56869272
122STK30.56375844
123DDR20.55562031
124PRKDC0.54323892
125CHEK10.54216888
126CSNK1G10.53740625
127EIF2AK10.52129834
128PRKD10.51308868
129CSNK1D0.50619875
130JAK30.50597150
131LATS20.48757575
132CSF1R0.48725089
133MAP2K70.48037469
134PHKG20.47533070
135PHKG10.47533070
136PLK20.47450668
137SRPK10.47130027
138EPHA40.47102001
139MINK10.46517271
140STK110.46090429
141NEK10.45602001
142PAK20.44948416
143MOS0.44614100
144AKT30.44476126
145CDK10.44187462
146RPS6KA30.43516884
147FGFR10.42595332
148BMX0.42080136
149MARK30.41802734
150TRPM70.41712473
151TYRO30.41081484
152CSNK1A1L0.41050926
153MELK0.40633307
154CDK20.39393571
155RAF10.38339840
156EPHA30.38327121
157NTRK20.38293183
158BUB10.37200708
159PINK10.37168349
160FYN0.36915162
161MET0.36833802
162MAP3K70.35213388
163MAP2K40.34755808

Predicted pathways (KEGG)

RankGene SetZ-score
1Selenocompound metabolism_Homo sapiens_hsa004503.18791928
2Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.61463966
3Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.57646754
4Fanconi anemia pathway_Homo sapiens_hsa034602.45677804
5Protein export_Homo sapiens_hsa030602.39720245
6Homologous recombination_Homo sapiens_hsa034402.30955327
7Type II diabetes mellitus_Homo sapiens_hsa049302.16998082
8Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.14468042
9RNA degradation_Homo sapiens_hsa030182.05625760
10Basal transcription factors_Homo sapiens_hsa030221.98064441
11Propanoate metabolism_Homo sapiens_hsa006401.85649433
12Butanoate metabolism_Homo sapiens_hsa006501.81601673
13One carbon pool by folate_Homo sapiens_hsa006701.80635316
14Non-homologous end-joining_Homo sapiens_hsa034501.76158286
15Insulin secretion_Homo sapiens_hsa049111.73775033
16Synaptic vesicle cycle_Homo sapiens_hsa047211.71286611
17Phosphatidylinositol signaling system_Homo sapiens_hsa040701.69249279
18Phototransduction_Homo sapiens_hsa047441.68689589
19Maturity onset diabetes of the young_Homo sapiens_hsa049501.65864052
20Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.62907115
21Mismatch repair_Homo sapiens_hsa034301.59875022
22Lysosome_Homo sapiens_hsa041421.52936418
23Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.51379355
24Carbohydrate digestion and absorption_Homo sapiens_hsa049731.48102809
25Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.41369458
26mTOR signaling pathway_Homo sapiens_hsa041501.41302391
27Long-term potentiation_Homo sapiens_hsa047201.40849820
28Steroid biosynthesis_Homo sapiens_hsa001001.40707616
29Glioma_Homo sapiens_hsa052141.40150939
30Inositol phosphate metabolism_Homo sapiens_hsa005621.40095176
31Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.38379808
32RNA transport_Homo sapiens_hsa030131.38367100
33Glycosaminoglycan degradation_Homo sapiens_hsa005311.38089632
34Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.36037179
35Olfactory transduction_Homo sapiens_hsa047401.27329364
36Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.26438810
37Cholinergic synapse_Homo sapiens_hsa047251.26184346
38Cell cycle_Homo sapiens_hsa041101.25938964
39Circadian entrainment_Homo sapiens_hsa047131.25398835
40Aldosterone synthesis and secretion_Homo sapiens_hsa049251.24195623
41Estrogen signaling pathway_Homo sapiens_hsa049151.22207056
42Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.18533389
43Neurotrophin signaling pathway_Homo sapiens_hsa047221.18090933
44Chronic myeloid leukemia_Homo sapiens_hsa052201.15900154
45Dopaminergic synapse_Homo sapiens_hsa047281.15672227
46GnRH signaling pathway_Homo sapiens_hsa049121.13306942
47Morphine addiction_Homo sapiens_hsa050321.11911527
48Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.11605762
49Nitrogen metabolism_Homo sapiens_hsa009101.09940851
50Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.09791017
51Hedgehog signaling pathway_Homo sapiens_hsa043401.09662580
52Cysteine and methionine metabolism_Homo sapiens_hsa002701.07809747
53Dorso-ventral axis formation_Homo sapiens_hsa043201.06937759
54GABAergic synapse_Homo sapiens_hsa047271.06622446
55Salivary secretion_Homo sapiens_hsa049701.06025946
56Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.06019099
57Renin secretion_Homo sapiens_hsa049241.05562311
58mRNA surveillance pathway_Homo sapiens_hsa030151.05327456
59Nucleotide excision repair_Homo sapiens_hsa034201.04763642
60Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.04183954
61Phospholipase D signaling pathway_Homo sapiens_hsa040721.04064538
62Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.03599318
63Pancreatic cancer_Homo sapiens_hsa052121.03194686
64Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.02702644
65Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.02376780
66Thyroid hormone signaling pathway_Homo sapiens_hsa049191.01933664
67Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.01709491
68Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.01639781
69Glutamatergic synapse_Homo sapiens_hsa047241.00134792
70Long-term depression_Homo sapiens_hsa047300.99346627
71Cocaine addiction_Homo sapiens_hsa050300.99199499
72Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.98455308
73Gastric acid secretion_Homo sapiens_hsa049710.98229334
74Oxytocin signaling pathway_Homo sapiens_hsa049210.97823529
75ErbB signaling pathway_Homo sapiens_hsa040120.97125565
76Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.96838000
77B cell receptor signaling pathway_Homo sapiens_hsa046620.95422140
78Amphetamine addiction_Homo sapiens_hsa050310.95214497
79Renal cell carcinoma_Homo sapiens_hsa052110.95088568
80Oocyte meiosis_Homo sapiens_hsa041140.94914376
81Ether lipid metabolism_Homo sapiens_hsa005650.94823846
82Osteoclast differentiation_Homo sapiens_hsa043800.94778130
83Non-small cell lung cancer_Homo sapiens_hsa052230.94330110
84Prolactin signaling pathway_Homo sapiens_hsa049170.94005570
85Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.93728676
86Alcoholism_Homo sapiens_hsa050340.93360656
87VEGF signaling pathway_Homo sapiens_hsa043700.92852663
88Pancreatic secretion_Homo sapiens_hsa049720.91819277
89RNA polymerase_Homo sapiens_hsa030200.91075034
90Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.90743804
91cGMP-PKG signaling pathway_Homo sapiens_hsa040220.90451365
92Insulin resistance_Homo sapiens_hsa049310.89965341
93Platelet activation_Homo sapiens_hsa046110.89958981
94Focal adhesion_Homo sapiens_hsa045100.89857303
95Vibrio cholerae infection_Homo sapiens_hsa051100.88678900
96Endometrial cancer_Homo sapiens_hsa052130.87013841
97Sulfur metabolism_Homo sapiens_hsa009200.86349456
98TGF-beta signaling pathway_Homo sapiens_hsa043500.85979621
99Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.85914672
100cAMP signaling pathway_Homo sapiens_hsa040240.85334914
101Insulin signaling pathway_Homo sapiens_hsa049100.83790916
102Choline metabolism in cancer_Homo sapiens_hsa052310.83518697
103Gap junction_Homo sapiens_hsa045400.83430667
104Sphingolipid signaling pathway_Homo sapiens_hsa040710.82451192
105Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.82050292
106Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.81756509
107Chemokine signaling pathway_Homo sapiens_hsa040620.81748095
108alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.80981350
109Proteoglycans in cancer_Homo sapiens_hsa052050.80497021
110Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.79832477
111Hippo signaling pathway_Homo sapiens_hsa043900.79604096
112Nicotine addiction_Homo sapiens_hsa050330.79273960
113Endocytosis_Homo sapiens_hsa041440.78418558
114Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.77923668
115Linoleic acid metabolism_Homo sapiens_hsa005910.77884855
116Type I diabetes mellitus_Homo sapiens_hsa049400.76197494
117Longevity regulating pathway - mammal_Homo sapiens_hsa042110.76052855
118Adherens junction_Homo sapiens_hsa045200.74161428
119MAPK signaling pathway_Homo sapiens_hsa040100.72655810
120Thyroid hormone synthesis_Homo sapiens_hsa049180.72328628
121Serotonergic synapse_Homo sapiens_hsa047260.71860499
122Vascular smooth muscle contraction_Homo sapiens_hsa042700.71745458
123ABC transporters_Homo sapiens_hsa020100.71405230
124Other glycan degradation_Homo sapiens_hsa005110.71253579
125MicroRNAs in cancer_Homo sapiens_hsa052060.71076823
126Central carbon metabolism in cancer_Homo sapiens_hsa052300.71047014
127Glucagon signaling pathway_Homo sapiens_hsa049220.70468938
128Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.70096542
129Regulation of actin cytoskeleton_Homo sapiens_hsa048100.68702289
130Calcium signaling pathway_Homo sapiens_hsa040200.68546264
131FoxO signaling pathway_Homo sapiens_hsa040680.68024952
132Phagosome_Homo sapiens_hsa041450.67961009
133Dilated cardiomyopathy_Homo sapiens_hsa054140.67488125
134Fatty acid metabolism_Homo sapiens_hsa012120.66939692
135Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.66775898
136p53 signaling pathway_Homo sapiens_hsa041150.66576795
137Lysine degradation_Homo sapiens_hsa003100.66518610
138Tuberculosis_Homo sapiens_hsa051520.65499070
139Acute myeloid leukemia_Homo sapiens_hsa052210.64910393
140Amoebiasis_Homo sapiens_hsa051460.64305340
141Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.63959733
142Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.63908643
143Rap1 signaling pathway_Homo sapiens_hsa040150.63522132
144Thyroid cancer_Homo sapiens_hsa052160.63214797
145Taste transduction_Homo sapiens_hsa047420.63129335
146AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.63017781
147Ovarian steroidogenesis_Homo sapiens_hsa049130.62439519
148Collecting duct acid secretion_Homo sapiens_hsa049660.62179045
149Melanoma_Homo sapiens_hsa052180.61448983
150Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.61399697
151Basal cell carcinoma_Homo sapiens_hsa052170.61310482
152Primary bile acid biosynthesis_Homo sapiens_hsa001200.61060757
153Circadian rhythm_Homo sapiens_hsa047100.60516862
154AMPK signaling pathway_Homo sapiens_hsa041520.60463699
155Purine metabolism_Homo sapiens_hsa002300.49752448
156Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.47965820
157Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.46218373
158Vitamin B6 metabolism_Homo sapiens_hsa007500.45249972
159Sphingolipid metabolism_Homo sapiens_hsa006000.43800874
160Melanogenesis_Homo sapiens_hsa049160.43557739
161Axon guidance_Homo sapiens_hsa043600.42895675
162Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.41975796
163Wnt signaling pathway_Homo sapiens_hsa043100.41039940
164Prostate cancer_Homo sapiens_hsa052150.39658733
165Fatty acid biosynthesis_Homo sapiens_hsa000610.37243517
166Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.36661286
167Pyruvate metabolism_Homo sapiens_hsa006200.35409921

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »