AP1S2

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: Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1COPI coating of Golgi vesicle (GO:0048205)5.87046880
2Golgi transport vesicle coating (GO:0048200)5.87046880
3establishment of integrated proviral latency (GO:0075713)5.23518918
4protein maturation by protein folding (GO:0022417)4.82210248
5CENP-A containing nucleosome assembly (GO:0034080)4.53574693
6chromatin remodeling at centromere (GO:0031055)4.53268731
7protein neddylation (GO:0045116)4.50551061
8mitotic G2 DNA damage checkpoint (GO:0007095)4.46312021
9neutrophil activation involved in immune response (GO:0002283)4.27963858
10mitotic G2/M transition checkpoint (GO:0044818)4.26078904
11peptide hormone processing (GO:0016486)4.18770956
12establishment of viral latency (GO:0019043)4.14470956
13positive regulation of SMAD protein import into nucleus (GO:0060391)4.08067342
14pre-miRNA processing (GO:0031054)4.07943326
15detection of calcium ion (GO:0005513)4.07450676
16insulin secretion (GO:0030073)4.05714633
17melanin biosynthetic process (GO:0042438)4.00216080
18histone exchange (GO:0043486)3.97920225
19retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)3.97176201
20positive regulation of mast cell activation (GO:0033005)3.97073144
21negative regulation of norepinephrine secretion (GO:0010700)3.93588747
22endocrine pancreas development (GO:0031018)3.90692992
23positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.85577745
24negative regulation of catecholamine secretion (GO:0033604)3.83316285
25positive regulation of mast cell activation involved in immune response (GO:0033008)3.81135766
26positive regulation of mast cell degranulation (GO:0043306)3.81135766
27regulation of penile erection (GO:0060405)3.80300031
28regulation of type B pancreatic cell apoptotic process (GO:2000674)3.79105647
29regulation of gene silencing by miRNA (GO:0060964)3.78894233
30regulation of gene silencing by RNA (GO:0060966)3.78894233
31regulation of posttranscriptional gene silencing (GO:0060147)3.78894233
32DNA replication-independent nucleosome organization (GO:0034724)3.75921336
33DNA replication-independent nucleosome assembly (GO:0006336)3.75921336
34regulation of short-term neuronal synaptic plasticity (GO:0048172)3.74440795
35synaptic vesicle exocytosis (GO:0016079)3.70686568
36synaptic vesicle maturation (GO:0016188)3.67182424
37maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.64774747
38phagocytosis, engulfment (GO:0006911)3.64383440
39regulation of synaptic vesicle exocytosis (GO:2000300)3.58257798
40regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022353.53545144
41DNA double-strand break processing (GO:0000729)3.52844933
42melanin metabolic process (GO:0006582)3.46308351
43regulation of mitotic spindle checkpoint (GO:1903504)3.45279741
44regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.45279741
45regulation of insulin secretion (GO:0050796)3.43869311
46secondary metabolite biosynthetic process (GO:0044550)3.43478735
47positive regulation of insulin secretion (GO:0032024)3.42609488
48negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.40030478
49negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.40030478
50negative regulation of mitotic sister chromatid segregation (GO:0033048)3.40030478
51negative regulation of mitotic sister chromatid separation (GO:2000816)3.40030478
52negative regulation of sister chromatid segregation (GO:0033046)3.40030478
53non-recombinational repair (GO:0000726)3.35898377
54double-strand break repair via nonhomologous end joining (GO:0006303)3.35898377
55single strand break repair (GO:0000012)3.35345490
56DNA ligation (GO:0006266)3.32819310
57proteasome assembly (GO:0043248)3.29763245
58negative regulation of phosphoprotein phosphatase activity (GO:0032515)3.27319790
59regulation of glucocorticoid secretion (GO:2000849)3.24062256
60negative regulation of chromosome segregation (GO:0051985)3.22621981
61neuronal action potential propagation (GO:0019227)3.21485793
62negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.20603113
63ER overload response (GO:0006983)3.19867387
64COPII vesicle coating (GO:0048208)3.18674177
65vesicle coating (GO:0006901)3.18673449
66protein retention in ER lumen (GO:0006621)3.14206430
67regulation of norepinephrine secretion (GO:0014061)3.13918196
68cellular response to glucagon stimulus (GO:0071377)3.12393203
69regulation of cell fate specification (GO:0042659)3.12324181
70protein localization to Golgi apparatus (GO:0034067)3.11772778
71regulation of peptide hormone secretion (GO:0090276)3.11210429
72spindle checkpoint (GO:0031577)3.10188801
73regulation of synaptic vesicle transport (GO:1902803)3.09879218
74mitotic spindle assembly checkpoint (GO:0007094)3.09785767
75sequestering of metal ion (GO:0051238)3.09757525
76mitotic spindle checkpoint (GO:0071174)3.09667283
77peptide hormone secretion (GO:0030072)3.08620721
78regulation of peptide secretion (GO:0002791)3.08387248
79activation of protein kinase A activity (GO:0034199)3.08108650
80neuron cell-cell adhesion (GO:0007158)3.08058847
81nitric oxide mediated signal transduction (GO:0007263)3.07283088
82regulation of mitotic metaphase/anaphase transition (GO:0030071)3.07045678
83regulation of metaphase/anaphase transition of cell cycle (GO:1902099)3.07045678
84negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.04896831
85negative regulation of translation, ncRNA-mediated (GO:0040033)3.04896831
86regulation of translation, ncRNA-mediated (GO:0045974)3.04896831
87spindle assembly checkpoint (GO:0071173)3.03231005
88intra-Golgi vesicle-mediated transport (GO:0006891)3.02868557
89positive regulation of synaptic transmission, GABAergic (GO:0032230)3.02367934
90peptide secretion (GO:0002790)3.01269145
91locomotory exploration behavior (GO:0035641)3.00664431
92sequestering of actin monomers (GO:0042989)2.98341755
93regulation of amyloid precursor protein catabolic process (GO:1902991)2.97717188
94regulation of sister chromatid segregation (GO:0033045)2.96282654
95regulation of mitotic sister chromatid separation (GO:0010965)2.96282654
96regulation of mitotic sister chromatid segregation (GO:0033047)2.96282654
97exocrine pancreas development (GO:0031017)2.95909356
98negative regulation of fibroblast apoptotic process (GO:2000270)2.94554505
99signal peptide processing (GO:0006465)2.94142138
100protein targeting to Golgi (GO:0000042)2.92585940
101regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.92364648
102regulation of helicase activity (GO:0051095)2.91657289
103cerebellar Purkinje cell layer development (GO:0021680)2.91240874
104neurotransmitter secretion (GO:0007269)2.91102528
105histone mRNA metabolic process (GO:0008334)2.88814889
106melanosome transport (GO:0032402)2.87243180
107type B pancreatic cell development (GO:0003323)2.86513005
108positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.85665400
109membrane invagination (GO:0010324)2.85029352
110regulation of mast cell activation (GO:0033003)2.85019375
111protein localization to kinetochore (GO:0034501)2.84087880
112DNA replication-dependent nucleosome assembly (GO:0006335)2.83213260
113DNA replication-dependent nucleosome organization (GO:0034723)2.83213260
114vesicle transport along microtubule (GO:0047496)2.81674847
115respiratory burst (GO:0045730)2.81125164
116neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)2.80301397
117regulation of beta-amyloid formation (GO:1902003)2.79024398
118positive regulation of peptide hormone secretion (GO:0090277)2.79007053
119establishment of melanosome localization (GO:0032401)2.78726810
120regulation of hormone secretion (GO:0046883)2.78086784
121ATP-dependent chromatin remodeling (GO:0043044)2.77690155
122negative regulation of amine transport (GO:0051953)2.77608114
123positive regulation of peptide secretion (GO:0002793)2.77314302
124Rap protein signal transduction (GO:0032486)2.77155747
125regulation of chromatin silencing (GO:0031935)2.75867427
126vocalization behavior (GO:0071625)2.75292847
127glandular epithelial cell differentiation (GO:0002067)2.74933313
128regulation of DNA endoreduplication (GO:0032875)2.73738843
129transferrin transport (GO:0033572)2.73496622
130presynaptic membrane assembly (GO:0097105)2.73342484
131regulation of histone H3-K9 methylation (GO:0051570)2.72822990
132regulation of chromosome segregation (GO:0051983)2.72745963
133purine deoxyribonucleotide catabolic process (GO:0009155)2.72711577
134cullin deneddylation (GO:0010388)2.72620232
135positive regulation of vesicle fusion (GO:0031340)2.72439066
136pigment granule transport (GO:0051904)2.71184938
137positive regulation of amino acid transport (GO:0051957)2.70898429
138IMP metabolic process (GO:0046040)2.70245101
139toxin metabolic process (GO:0009404)2.69735791
140signal release (GO:0023061)2.69556459
141mitotic metaphase plate congression (GO:0007080)2.69381304
142somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)2.68852386
143somatic diversification of immunoglobulins involved in immune response (GO:0002208)2.68852386
144isotype switching (GO:0045190)2.68852386
145synapsis (GO:0007129)2.68639038
146negative regulation of NF-kappaB import into nucleus (GO:0042347)2.68221293
147ATP hydrolysis coupled proton transport (GO:0015991)2.67957988
148energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)2.67957988
149regulation of mesoderm development (GO:2000380)2.67496014
150mating behavior (GO:0007617)2.66935531
151regulation of vesicle fusion (GO:0031338)2.65975027
152positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.65653892
153negative regulation of DNA-dependent DNA replication (GO:2000104)2.65471034
154negative regulation of gene silencing (GO:0060969)2.65159360
155response to X-ray (GO:0010165)2.64509624
156organelle transport along microtubule (GO:0072384)2.64413702
157regulation of SMAD protein import into nucleus (GO:0060390)2.64333310
158establishment of pigment granule localization (GO:0051905)2.63785596
159regulation of calcium ion-dependent exocytosis (GO:0017158)2.63474692
160negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.62953842
161peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)2.62863271
162DNA damage response, detection of DNA damage (GO:0042769)2.62726045
163regulation of gene silencing (GO:0060968)2.62302013
164dorsal/ventral axis specification (GO:0009950)2.59411575
165glandular epithelial cell development (GO:0002068)2.58481550
166regulation of corticosteroid hormone secretion (GO:2000846)2.58465657
167membrane repolarization during cardiac muscle cell action potential (GO:0086013)2.57526371
168ferric iron transport (GO:0015682)2.57233123
169trivalent inorganic cation transport (GO:0072512)2.57233123
170regulation of cofactor metabolic process (GO:0051193)2.56190597
171regulation of coenzyme metabolic process (GO:0051196)2.56190597
172positive regulation of exocytosis (GO:0045921)2.55782084
173protein localization to synapse (GO:0035418)2.55777687
174regulation of cAMP-dependent protein kinase activity (GO:2000479)2.55315211
175hormone secretion (GO:0046879)2.54665818
176establishment of chromosome localization (GO:0051303)2.54489901
177regulation of peptide transport (GO:0090087)2.53583947
178regulation of nitric-oxide synthase biosynthetic process (GO:0051769)2.52561948
179protein K11-linked ubiquitination (GO:0070979)2.52520402
180activation of signaling protein activity involved in unfolded protein response (GO:0006987)2.52294869
181protein complex localization (GO:0031503)2.52078717
182positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:003572.51892430
183B cell mediated immunity (GO:0019724)2.51871432
184establishment of protein localization to Golgi (GO:0072600)2.51687820
185RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.51016375
186regulation of MHC class II biosynthetic process (GO:0045346)2.50759296
187developmental pigmentation (GO:0048066)2.50483864
188suckling behavior (GO:0001967)2.50256322
189regulation of exocytosis (GO:0017157)2.49882601
190regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.49717802
191myeloid leukocyte mediated immunity (GO:0002444)2.49014828
192anterior/posterior axis specification, embryo (GO:0008595)2.48184082
193melanosome localization (GO:0032400)2.46840824
194sarcoplasmic reticulum calcium ion transport (GO:0070296)2.46539662
195retrograde transport, vesicle recycling within Golgi (GO:0000301)2.46311056
196negative regulation of calcium ion transport into cytosol (GO:0010523)2.45294971
197calcium-mediated signaling using intracellular calcium source (GO:0035584)2.44866602
198eating behavior (GO:0042755)2.44605944
199regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)2.44358090

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.91646533
2FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse4.25433556
3GBX2_23144817_ChIP-Seq_PC3_Human2.87446979
4E2F4_17652178_ChIP-ChIP_JURKAT_Human2.69467775
5IGF1R_20145208_ChIP-Seq_DFB_Human2.67914340
6SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.58087953
7EWS_26573619_Chip-Seq_HEK293_Human2.49968140
8REST_21632747_ChIP-Seq_MESCs_Mouse2.46628793
9SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.41593097
10TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.39484041
11SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.34997578
12POU5F1_16153702_ChIP-ChIP_HESCs_Human2.29631497
13SALL1_21062744_ChIP-ChIP_HESCs_Human2.26407462
14ELK1_19687146_ChIP-ChIP_HELA_Human2.26245289
15SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.21773251
16KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.20748420
17JARID2_20064375_ChIP-Seq_MESCs_Mouse2.18607737
18REST_18959480_ChIP-ChIP_MESCs_Mouse2.17384693
19NR3C1_23031785_ChIP-Seq_PC12_Mouse2.13732036
20JARID2_20075857_ChIP-Seq_MESCs_Mouse2.08208716
21SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.07008890
22HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.06659063
23RBPJ_22232070_ChIP-Seq_NCS_Mouse2.05500159
24MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.04714127
25EZH2_27304074_Chip-Seq_ESCs_Mouse2.02090047
26MTF2_20144788_ChIP-Seq_MESCs_Mouse2.01738705
27* NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.00747765
28FLI1_27457419_Chip-Seq_LIVER_Mouse2.00542426
29CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.96303315
30CTBP2_25329375_ChIP-Seq_LNCAP_Human1.95519305
31* BMI1_23680149_ChIP-Seq_NPCS_Mouse1.90855292
32SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.85546072
33TAF15_26573619_Chip-Seq_HEK293_Human1.85097097
34GABP_17652178_ChIP-ChIP_JURKAT_Human1.84887215
35KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.84598187
36PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.81089319
37IRF8_21731497_ChIP-ChIP_J774_Mouse1.80053367
38ZNF274_21170338_ChIP-Seq_K562_Hela1.79760610
39EZH2_18974828_ChIP-Seq_MESCs_Mouse1.78896810
40RNF2_18974828_ChIP-Seq_MESCs_Mouse1.78896810
41* NANOG_16153702_ChIP-ChIP_HESCs_Human1.77776249
42VDR_22108803_ChIP-Seq_LS180_Human1.77418954
43EZH2_27294783_Chip-Seq_ESCs_Mouse1.76813349
44IKZF1_21737484_ChIP-ChIP_HCT116_Human1.76080126
45POU3F2_20337985_ChIP-ChIP_501MEL_Human1.72983331
46CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.70950997
47SMAD4_21799915_ChIP-Seq_A2780_Human1.70202637
48KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.70029015
49KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.70029015
50KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.70029015
51ZFP57_27257070_Chip-Seq_ESCs_Mouse1.69602103
52SUZ12_27294783_Chip-Seq_ESCs_Mouse1.68718421
53CTBP1_25329375_ChIP-Seq_LNCAP_Human1.67419930
54NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.66897008
55EED_16625203_ChIP-ChIP_MESCs_Mouse1.64475159
56RARB_27405468_Chip-Seq_BRAIN_Mouse1.62328147
57RNF2_27304074_Chip-Seq_ESCs_Mouse1.60457914
58PCGF2_27294783_Chip-Seq_ESCs_Mouse1.59760111
59GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.58614620
60E2F7_22180533_ChIP-Seq_HELA_Human1.57996613
61* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.56821196
62OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.55585380
63FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.54152468
64NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.51345169
65EST1_17652178_ChIP-ChIP_JURKAT_Human1.51225402
66* P300_19829295_ChIP-Seq_ESCs_Human1.50892796
67SOX2_16153702_ChIP-ChIP_HESCs_Human1.47020923
68TOP2B_26459242_ChIP-Seq_MCF-7_Human1.46615077
69FOXM1_23109430_ChIP-Seq_U2OS_Human1.45582078
70PIAS1_25552417_ChIP-Seq_VCAP_Human1.45475798
71HOXB4_20404135_ChIP-ChIP_EML_Mouse1.43464886
72CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.42170725
73CDX2_19796622_ChIP-Seq_MESCs_Mouse1.41284101
74DROSHA_22980978_ChIP-Seq_HELA_Human1.39298006
75PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.38419219
76EZH2_27294783_Chip-Seq_NPCs_Mouse1.38125187
77DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.37784724
78REST_19997604_ChIP-ChIP_NEURONS_Mouse1.35624053
79STAT3_23295773_ChIP-Seq_U87_Human1.35515556
80NELFA_20434984_ChIP-Seq_ESCs_Mouse1.35065184
81* SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.34397664
82SOX2_21211035_ChIP-Seq_LN229_Gbm1.33942301
83SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.32996977
84* CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.29428578
85TCF3_18692474_ChIP-Seq_MEFs_Mouse1.29201202
86SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.28707294
87BCAT_22108803_ChIP-Seq_LS180_Human1.27998758
88HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.27438573
89RNF2_27304074_Chip-Seq_NSC_Mouse1.25538878
90CREB1_15753290_ChIP-ChIP_HEK293T_Human1.24784942
91SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.24218438
92* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.23201556
93* VDR_23849224_ChIP-Seq_CD4+_Human1.21031019
94SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.20542371
95AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.20410403
96TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.20331223
97POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.20331223
98PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.17763848
99FOXP3_21729870_ChIP-Seq_TREG_Human1.17210511
100* PADI4_21655091_ChIP-ChIP_MCF-7_Human1.17067693
101BP1_19119308_ChIP-ChIP_Hs578T_Human1.16078711
102FLI1_21867929_ChIP-Seq_TH2_Mouse1.15728926
103POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.14906377
104GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.14863132
105GATA1_26923725_Chip-Seq_HPCs_Mouse1.14408336
106RUNX2_22187159_ChIP-Seq_PCA_Human1.14074416
107AR_25329375_ChIP-Seq_VCAP_Human1.14046639
108SUZ12_27294783_Chip-Seq_NPCs_Mouse1.13539439
109SMAD3_21741376_ChIP-Seq_EPCs_Human1.13519298
110CBX2_27304074_Chip-Seq_ESCs_Mouse1.11264755
111ZNF217_24962896_ChIP-Seq_MCF-7_Human1.10978756
112PCGF2_27294783_Chip-Seq_NPCs_Mouse1.10910328
113MYCN_18555785_ChIP-Seq_MESCs_Mouse1.10658512
114FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.09954757
115MYC_18940864_ChIP-ChIP_HL60_Human1.09839908
116CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.09763986
117GATA1_22025678_ChIP-Seq_K562_Human1.09457156
118OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.08659208
119TBX3_20139965_ChIP-Seq_ESCs_Mouse1.08424092
120FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.08362114
121TBX3_20139965_ChIP-Seq_MESCs_Mouse1.07985552
122HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.07606956
123IRF8_27001747_Chip-Seq_BMDM_Mouse1.07539061
124RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.06863284
125SMAD3_21741376_ChIP-Seq_ESCs_Human1.06577572
126CRX_20693478_ChIP-Seq_RETINA_Mouse1.06538455
127YAP1_20516196_ChIP-Seq_MESCs_Mouse1.06362314
128TCF3_18692474_ChIP-Seq_MESCs_Mouse1.06135051
129TCF4_23295773_ChIP-Seq_U87_Human1.05836260
130MYC_18555785_ChIP-Seq_MESCs_Mouse1.05277994
131FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.05053520
132MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.04944514
133CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.04435107
134E2F1_18555785_ChIP-Seq_MESCs_Mouse1.04249225
135TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.03924438
136SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.03478082
137NFE2_27457419_Chip-Seq_LIVER_Mouse1.02942043
138WT1_19549856_ChIP-ChIP_CCG9911_Human1.02877302
139IRF1_19129219_ChIP-ChIP_H3396_Human1.02616694
140NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.02431456
141SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.01284529
142MYC_19030024_ChIP-ChIP_MESCs_Mouse1.01150942
143LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00983286
144GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00681862
145SOX2_18555785_ChIP-Seq_MESCs_Mouse1.00240407
146POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.00239766
147UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.00189592
148TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.98108806
149NANOG_18555785_Chip-Seq_ESCs_Mouse0.97762873
150RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.95886813
151P53_22127205_ChIP-Seq_FIBROBLAST_Human0.95417209
152BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.94578176
153NR3C1_21868756_ChIP-Seq_MCF10A_Human0.92035354
154CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.91413765
155PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.91382866
156AR_19668381_ChIP-Seq_PC3_Human0.90839582
157ER_23166858_ChIP-Seq_MCF-7_Human0.90144357
158TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90007186
159KDM2B_26808549_Chip-Seq_REH_Human0.89035295
160ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.88874149
161TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.88069173
162TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.86841770
163CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.86817971
164TAL1_26923725_Chip-Seq_HPCs_Mouse0.85389045
165RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.85053556
166RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.84895787
167JUN_21703547_ChIP-Seq_K562_Human0.84550912
168EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.84270649
169FUS_26573619_Chip-Seq_HEK293_Human0.83859445
170WT1_25993318_ChIP-Seq_PODOCYTE_Human0.83336580
171ARNT_22903824_ChIP-Seq_MCF-7_Human0.82438527
172SMAD_19615063_ChIP-ChIP_OVARY_Human0.81959109

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003136_yellow_coat_color4.68549432
2MP0010386_abnormal_urinary_bladder3.71416110
3MP0000013_abnormal_adipose_tissue3.64936192
4MP0005171_absent_coat_pigmentation3.57369442
5MP0006054_spinal_hemorrhage3.54444027
6MP0000372_irregular_coat_pigmentation3.45018485
7MP0002909_abnormal_adrenal_gland3.44405780
8MP0003283_abnormal_digestive_organ3.37994390
9MP0003183_abnormal_peptide_metabolism3.37579418
10MP0009780_abnormal_chondrocyte_physiolo3.06683970
11MP0002837_dystrophic_cardiac_calcinosis2.94671086
12MP0003890_abnormal_embryonic-extraembry2.93296532
13MP0005075_abnormal_melanosome_morpholog2.91641841
14MP0002102_abnormal_ear_morphology2.82358754
15MP0003122_maternal_imprinting2.74837068
16MP0002877_abnormal_melanocyte_morpholog2.71022702
17MP0005379_endocrine/exocrine_gland_phen2.70128622
18MP0002693_abnormal_pancreas_physiology2.64427741
19MP0006276_abnormal_autonomic_nervous2.60098766
20MP0004270_analgesia2.59213050
21MP0002254_reproductive_system_inflammat2.44049117
22MP0008877_abnormal_DNA_methylation2.38495327
23MP0005645_abnormal_hypothalamus_physiol2.37867333
24MP0004859_abnormal_synaptic_plasticity2.33168995
25MP0004043_abnormal_pH_regulation2.28164801
26MP0003635_abnormal_synaptic_transmissio2.25171751
27MP0003880_abnormal_central_pattern2.22985500
28MP0001944_abnormal_pancreas_morphology2.21408978
29MP0002735_abnormal_chemical_nociception2.20076068
30MP0001986_abnormal_taste_sensitivity2.18350762
31MP0002733_abnormal_thermal_nociception2.12170584
32MP0002638_abnormal_pupillary_reflex2.11451301
33MP0002090_abnormal_vision2.09728641
34MP0002734_abnormal_mechanical_nocicepti2.09493905
35MP0005646_abnormal_pituitary_gland2.08634475
36MP0008057_abnormal_DNA_replication2.04093877
37MP0003567_abnormal_fetal_cardiomyocyte2.01981800
38MP0001293_anophthalmia1.96666868
39MP0001324_abnormal_eye_pigmentation1.93711852
40MP0006072_abnormal_retinal_apoptosis1.93153459
41MP0005248_abnormal_Harderian_gland1.90679668
42MP0003195_calcinosis1.86473895
43MP0001970_abnormal_pain_threshold1.86379523
44MP0005174_abnormal_tail_pigmentation1.84925951
45MP0010094_abnormal_chromosome_stability1.84289656
46MP0002064_seizures1.84151712
47MP0009745_abnormal_behavioral_response1.82022890
48MP0008058_abnormal_DNA_repair1.80927338
49MP0004957_abnormal_blastocyst_morpholog1.80277401
50MP0002572_abnormal_emotion/affect_behav1.77724093
51MP0002063_abnormal_learning/memory/cond1.77682691
52MP0003221_abnormal_cardiomyocyte_apopto1.77259517
53MP0005394_taste/olfaction_phenotype1.75007284
54MP0005499_abnormal_olfactory_system1.75007284
55MP0000015_abnormal_ear_pigmentation1.72583404
56MP0002163_abnormal_gland_morphology1.71187514
57MP0008932_abnormal_embryonic_tissue1.70005310
58MP0002272_abnormal_nervous_system1.65504528
59MP0005423_abnormal_somatic_nervous1.64634539
60MP0009046_muscle_twitch1.63478524
61MP0002822_catalepsy1.63288443
62MP0001968_abnormal_touch/_nociception1.53655211
63MP0003646_muscle_fatigue1.48772802
64MP0002078_abnormal_glucose_homeostasis1.47768185
65MP0001501_abnormal_sleep_pattern1.47032294
66MP0001188_hyperpigmentation1.46435416
67MP0002095_abnormal_skin_pigmentation1.46378481
68MP0000003_abnormal_adipose_tissue1.44754010
69MP0003724_increased_susceptibility_to1.43085816
70MP0002184_abnormal_innervation1.41749614
71MP0002557_abnormal_social/conspecific_i1.41526798
72MP0004084_abnormal_cardiac_muscle1.41401694
73MP0004858_abnormal_nervous_system1.35335869
74MP0005671_abnormal_response_to1.34685393
75MP0002067_abnormal_sensory_capabilities1.34267450
76MP0003172_abnormal_lysosome_physiology1.33866045
77MP0008961_abnormal_basal_metabolism1.33010662
78MP0009672_abnormal_birth_weight1.31982939
79MP0006292_abnormal_olfactory_placode1.31800355
80MP0002876_abnormal_thyroid_physiology1.31013916
81MP0004133_heterotaxia1.30889960
82MP0008260_abnormal_autophagy1.30788302
83MP0000371_diluted_coat_color1.30086908
84MP0001502_abnormal_circadian_rhythm1.29926768
85MP0000678_abnormal_parathyroid_gland1.28545897
86MP0001835_abnormal_antigen_presentation1.27093461
87MP0000631_abnormal_neuroendocrine_gland1.23019155
88MP0001485_abnormal_pinna_reflex1.22840275
89MP0005058_abnormal_lysosome_morphology1.22653939
90MP0000955_abnormal_spinal_cord1.22628746
91MP0003878_abnormal_ear_physiology1.21233364
92MP0005377_hearing/vestibular/ear_phenot1.21233364
93MP0004811_abnormal_neuron_physiology1.20785463
94MP0000538_abnormal_urinary_bladder1.20186096
95MP0001440_abnormal_grooming_behavior1.17804663
96MP0003111_abnormal_nucleus_morphology1.17590258
97MP0005464_abnormal_platelet_physiology1.17304179
98MP0008004_abnormal_stomach_pH1.16382291
99MP0004510_myositis1.16238264
100MP0002928_abnormal_bile_duct1.13682706
101MP0005408_hypopigmentation1.12157312
102MP0003077_abnormal_cell_cycle1.11494835
103MP0001299_abnormal_eye_distance/1.10900927
104MP0005535_abnormal_body_temperature1.09834516
105MP0001529_abnormal_vocalization1.09530660
106MP0001486_abnormal_startle_reflex1.08523454
107MP0002938_white_spotting1.08147919
108MP0004145_abnormal_muscle_electrophysio1.07233551
109MP0003787_abnormal_imprinting1.07037223
110MP0004215_abnormal_myocardial_fiber1.05858718
111MP0006082_CNS_inflammation1.05747477
112MP0005367_renal/urinary_system_phenotyp1.05652474
113MP0000516_abnormal_urinary_system1.05652474
114MP0006035_abnormal_mitochondrial_morpho1.05077749
115MP0005220_abnormal_exocrine_pancreas1.04540921
116MP0004924_abnormal_behavior1.03980946
117MP0005386_behavior/neurological_phenoty1.03980946
118MP0008569_lethality_at_weaning1.03599050
119MP0001984_abnormal_olfaction1.03213550
120MP0004381_abnormal_hair_follicle1.02921133
121MP0002736_abnormal_nociception_after1.02752997
122MP0005084_abnormal_gallbladder_morpholo1.02617157
123MP0003329_amyloid_beta_deposits0.99422807
124MP0003941_abnormal_skin_development0.99370725
125MP0003137_abnormal_impulse_conducting0.98975869
126MP0003828_pulmonary_edema0.98263935
127MP0002751_abnormal_autonomic_nervous0.97527054
128MP0008789_abnormal_olfactory_epithelium0.96142402
129MP0003879_abnormal_hair_cell0.95903667
130MP0000465_gastrointestinal_hemorrhage0.95484302
131MP0003953_abnormal_hormone_level0.94902110
132MP0002882_abnormal_neuron_morphology0.94104348
133MP0003634_abnormal_glial_cell0.92488056
134MP0001905_abnormal_dopamine_level0.92329273
135MP0003119_abnormal_digestive_system0.91691025
136MP0002972_abnormal_cardiac_muscle0.90854610
137MP0005448_abnormal_energy_balance0.90471763
138MP0002229_neurodegeneration0.89661780
139MP0009703_decreased_birth_body0.88244928
140MP0002066_abnormal_motor_capabilities/c0.88230702
141MP0002069_abnormal_eating/drinking_beha0.88075058
142MP0004484_altered_response_of0.87756339
143MP0001915_intracranial_hemorrhage0.87454534
144MP0005167_abnormal_blood-brain_barrier0.86780380
145MP0001270_distended_abdomen0.85753396
146MP0001348_abnormal_lacrimal_gland0.85529961
147MP0002419_abnormal_innate_immunity0.83657622
148MP0003937_abnormal_limbs/digits/tail_de0.81331052
149MP0000462_abnormal_digestive_system0.80914886
150MP0003806_abnormal_nucleotide_metabolis0.80496766
151MP0004197_abnormal_fetal_growth/weight/0.79886837
152MP0003303_peritoneal_inflammation0.79803088
153MP0002084_abnormal_developmental_patter0.79360337
154MP0002075_abnormal_coat/hair_pigmentati0.79227280
155MP0003121_genomic_imprinting0.78935550
156MP0003186_abnormal_redox_activity0.78900732
157MP0005253_abnormal_eye_physiology0.78820423
158MP0001730_embryonic_growth_arrest0.78777298
159MP0001765_abnormal_ion_homeostasis0.78733375
160MP0008007_abnormal_cellular_replicative0.77924354
161MP0003633_abnormal_nervous_system0.77687732
162MP0005310_abnormal_salivary_gland0.77518857
163MP0002896_abnormal_bone_mineralization0.77231194
164MP0009278_abnormal_bone_marrow0.77074654
165MP0004085_abnormal_heartbeat0.75447798
166MP0005197_abnormal_uvea_morphology0.75418130
167MP0001186_pigmentation_phenotype0.75287451
168MP0000639_abnormal_adrenal_gland0.74985112
169MP0000778_abnormal_nervous_system0.74337755
170MP0000681_abnormal_thyroid_gland0.74036173
171MP0003959_abnormal_lean_body0.72810982
172MP0000647_abnormal_sebaceous_gland0.72414026
173MP0003693_abnormal_embryo_hatching0.71852951
174MP0004142_abnormal_muscle_tone0.71706741
175MP0001672_abnormal_embryogenesis/_devel0.69493127
176MP0005380_embryogenesis_phenotype0.69493127
177MP0001664_abnormal_digestion0.69075066
178MP0000358_abnormal_cell_content/0.69069683
179MP0002148_abnormal_hypersensitivity_rea0.68989722
180MP0000230_abnormal_systemic_arterial0.68299426
181MP0000343_altered_response_to0.68172103
182MP0005257_abnormal_intraocular_pressure0.66884271
183MP0004036_abnormal_muscle_relaxation0.66228951
184MP0002233_abnormal_nose_morphology0.66223867
185MP0000569_abnormal_digit_pigmentation0.65641834

Predicted human phenotypes

RankGene SetZ-score
1Elevated circulating parathyroid hormone (PTH) level (HP:0003165)5.92486065
2Hyperinsulinemic hypoglycemia (HP:0000825)5.18033427
3Hypoglycemic seizures (HP:0002173)4.68298960
4Hypothermia (HP:0002045)4.33438029
5Symptomatic seizures (HP:0011145)4.32535756
6Agitation (HP:0000713)4.13876140
7Abnormality of calcium-phosphate metabolism (HP:0100530)4.09816655
8Cortical dysplasia (HP:0002539)4.00694200
9Visual hallucinations (HP:0002367)3.95437045
10Pheochromocytoma (HP:0002666)3.73994581
11Amyotrophic lateral sclerosis (HP:0007354)3.73649656
12Insulin-resistant diabetes mellitus (HP:0000831)3.58990333
13Focal motor seizures (HP:0011153)3.57525520
14Exercise-induced muscle cramps (HP:0003710)3.55659764
15Atonic seizures (HP:0010819)3.47852028
16Dysostosis multiplex (HP:0000943)3.45646596
17Septo-optic dysplasia (HP:0100842)3.40806271
18Colon cancer (HP:0003003)3.34905766
19Papilledema (HP:0001085)3.30464909
20Neuroendocrine neoplasm (HP:0100634)3.28325296
21Mucopolysacchariduria (HP:0008155)3.26644506
22Urinary glycosaminoglycan excretion (HP:0003541)3.26644506
23Failure to thrive in infancy (HP:0001531)3.25048486
24Agnosia (HP:0010524)3.21804540
25Aplasia/Hypoplasia of the macula (HP:0008059)3.19892949
26Aplasia/Hypoplasia of the fovea (HP:0008060)3.17704370
27Hypoplasia of the fovea (HP:0007750)3.17704370
28Menstrual irregularities (HP:0000858)3.16771485
29Hypoglycemic coma (HP:0001325)3.14962319
30Decreased circulating renin level (HP:0003351)3.14426875
31Hyperglycemia (HP:0003074)3.10693175
32Abnormality of mucopolysaccharide metabolism (HP:0011020)3.10483989
33Abnormality of polysaccharide metabolism (HP:0011012)3.10483989
34Abnormality of glycosaminoglycan metabolism (HP:0004371)3.10483989
35Atrophy/Degeneration involving motor neurons (HP:0007373)3.10234285
36Disinhibition (HP:0000734)2.96088959
37Ketoacidosis (HP:0001993)2.94859508
38White forelock (HP:0002211)2.91738681
39Aplasia/Hypoplasia affecting the retina (HP:0008061)2.89692199
40Patchy hypopigmentation of hair (HP:0011365)2.87887048
41Hypercortisolism (HP:0001578)2.85694373
42Large for gestational age (HP:0001520)2.75223978
43Abnormal auditory evoked potentials (HP:0006958)2.70941932
44Limb dystonia (HP:0002451)2.69989585
45Abnormality of the pancreatic islet cells (HP:0006476)2.67340697
46Abnormality of endocrine pancreas physiology (HP:0012093)2.67340697
47Papillary thyroid carcinoma (HP:0002895)2.63548467
48Supranuclear gaze palsy (HP:0000605)2.62433622
49Febrile seizures (HP:0002373)2.61429892
50Abnormal pancreas size (HP:0012094)2.60465690
51EEG with generalized epileptiform discharges (HP:0011198)2.59660208
52Volvulus (HP:0002580)2.58150322
53Absence seizures (HP:0002121)2.56966752
54Nephroblastoma (Wilms tumor) (HP:0002667)2.56747297
55Embryonal renal neoplasm (HP:0011794)2.56512170
56Hypsarrhythmia (HP:0002521)2.55673277
57Hyperparathyroidism (HP:0000843)2.54698258
58Abnormality of the musculature of the pelvis (HP:0001469)2.53620741
59Abnormality of the hip-girdle musculature (HP:0001445)2.53620741
60Hepatoblastoma (HP:0002884)2.53521341
61Late onset (HP:0003584)2.51747346
62Focal seizures (HP:0007359)2.51438288
63Abnormality of liposaccharide metabolism (HP:0010968)2.50954070
64Abnormality of glycosphingolipid metabolism (HP:0004343)2.50954070
65Abnormality of glycolipid metabolism (HP:0010969)2.50954070
66Spastic diplegia (HP:0001264)2.49572906
67Inappropriate behavior (HP:0000719)2.48951690
68Pancreatic islet-cell hyperplasia (HP:0004510)2.48106361
69Epileptiform EEG discharges (HP:0011182)2.47390472
70Stenosis of the external auditory canal (HP:0000402)2.46450572
71Supernumerary spleens (HP:0009799)2.45880572
72Abnormal lung lobation (HP:0002101)2.44064674
73Generalized tonic-clonic seizures (HP:0002069)2.43149382
74Gait imbalance (HP:0002141)2.42917958
75Anxiety (HP:0000739)2.41387339
76Transitional cell carcinoma of the bladder (HP:0006740)2.38948467
77Abnormality of the labia minora (HP:0012880)2.36824277
78Oligomenorrhea (HP:0000876)2.34642617
79Medial flaring of the eyebrow (HP:0010747)2.34330946
80Aplasia/Hypoplasia affecting the fundus (HP:0008057)2.33386280
81Rhabdomyosarcoma (HP:0002859)2.32661405
82Depression (HP:0000716)2.31442646
83Abnormality of the septum pellucidum (HP:0007375)2.31367038
84Intestinal atresia (HP:0011100)2.30845653
85Degeneration of anterior horn cells (HP:0002398)2.29515715
86Abnormality of the anterior horn cell (HP:0006802)2.29515715
87Retinal atrophy (HP:0001105)2.29462788
88Rimmed vacuoles (HP:0003805)2.29381665
89Progressive neurologic deterioration (HP:0002344)2.25808079
90Epileptic encephalopathy (HP:0200134)2.25725172
91Hypokalemia (HP:0002900)2.24909336
92Abnormality of chromosome stability (HP:0003220)2.24522185
93Progressive inability to walk (HP:0002505)2.24057298
94Postural tremor (HP:0002174)2.22267598
95Absent septum pellucidum (HP:0001331)2.21185187
96Congenital primary aphakia (HP:0007707)2.20672100
97Medulloblastoma (HP:0002885)2.20608769
98Gastrointestinal carcinoma (HP:0002672)2.20588888
99Malignant gastrointestinal tract tumors (HP:0006749)2.20588888
100Dialeptic seizures (HP:0011146)2.20313072
101Testicular neoplasm (HP:0010788)2.19362005
102Hyperglycinemia (HP:0002154)2.17681297
103Thoracolumbar scoliosis (HP:0002944)2.17102842
104Truncal ataxia (HP:0002078)2.16916499
105Thyroid carcinoma (HP:0002890)2.16785746
106Dyschromatopsia (HP:0007641)2.16301958
107Uterine leiomyosarcoma (HP:0002891)2.11825259
108Leiomyosarcoma (HP:0100243)2.11825259
109Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.10890640
110Bladder neoplasm (HP:0009725)2.10807382
111Bladder carcinoma (HP:0002862)2.10807382
112Recurrent bacterial skin infections (HP:0005406)2.10100354
113Shoulder girdle muscle weakness (HP:0003547)2.09189885
114Insidious onset (HP:0003587)2.07804789
115Termporal pattern (HP:0011008)2.07804789
116Dysautonomia (HP:0002459)2.07646142
117Rectovaginal fistula (HP:0000143)2.07591554
118Rectal fistula (HP:0100590)2.07591554
119Pelvic girdle muscle weakness (HP:0003749)2.05482605
120Amaurosis fugax (HP:0100576)2.05292064
121Myokymia (HP:0002411)2.05181021
122Ankle clonus (HP:0011448)2.05081572
123Iris hypopigmentation (HP:0007730)2.03577789
124Restlessness (HP:0000711)2.02968795
125Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.00610628
126Abnormal platelet volume (HP:0011876)2.00479710
127Abnormality of the fovea (HP:0000493)1.99704313
128Aqueductal stenosis (HP:0002410)1.97348581
129Generalized hypopigmentation (HP:0007513)1.96953810
130Abnormal hair whorl (HP:0010721)1.96693157
131Resting tremor (HP:0002322)1.96575185
132Disproportionate short-trunk short stature (HP:0003521)1.96340177
133Increased mean platelet volume (HP:0011877)1.96253012
134Progressive cerebellar ataxia (HP:0002073)1.95976090
135Nephrogenic diabetes insipidus (HP:0009806)1.94516112
136Heterochromia iridis (HP:0001100)1.94379567
137Biliary tract neoplasm (HP:0100574)1.94324961
138Osteomalacia (HP:0002749)1.93705459
139Growth hormone excess (HP:0000845)1.93345776
140Short tibia (HP:0005736)1.92653091
141Drooling (HP:0002307)1.91998158
142Excessive salivation (HP:0003781)1.91998158
143Uterine neoplasm (HP:0010784)1.91359592
144Hematochezia (HP:0002573)1.89084342
145Optic nerve hypoplasia (HP:0000609)1.88859122
146Blue irides (HP:0000635)1.88538378
147Adrenal overactivity (HP:0002717)1.88406788
148Breast aplasia (HP:0100783)1.88222354
149Congenital glaucoma (HP:0001087)1.87865421
150Aplasia/Hypoplasia of the tibia (HP:0005772)1.86382159
151Meckel diverticulum (HP:0002245)1.86043616
152Hyperkalemia (HP:0002153)1.85576317
153Macroorchidism (HP:0000053)1.85327612
154Hyperphosphatemia (HP:0002905)1.85165683
155Recurrent abscess formation (HP:0002722)1.84830072
156Increased cerebral lipofuscin (HP:0011813)1.83777649
157Gonadotropin excess (HP:0000837)1.83371606
158Psychosis (HP:0000709)1.82560046
159Abolished electroretinogram (ERG) (HP:0000550)1.82433200
160Broad foot (HP:0001769)1.81735824
161Spinal canal stenosis (HP:0003416)1.81335094
162Abnormality of renin-angiotensin system (HP:0000847)1.81157020
163Neoplasm of the small intestine (HP:0100833)1.80942946
164Methylmalonic acidemia (HP:0002912)1.78941515
165Hypoventilation (HP:0002791)1.78814207
166Abnormality of potassium homeostasis (HP:0011042)1.78705412
167Hereditary nonpolyposis colorectal carcinoma (HP:0006716)1.78555923
168Aplasia/Hypoplasia of the lens (HP:0008063)1.77984367
169Neurofibrillary tangles (HP:0002185)1.77966636
170Aplasia/Hypoplasia of the hallux (HP:0008362)1.77433272
171Action tremor (HP:0002345)1.77084858
172Bifid tongue (HP:0010297)1.76440955
173Cortical visual impairment (HP:0100704)1.74834736
174Petechiae (HP:0000967)1.74579477
175Erectile abnormalities (HP:0100639)1.74481112
176Genital tract atresia (HP:0001827)1.74423131
177Vaginal atresia (HP:0000148)1.74381054
178Abnormality of the ileum (HP:0001549)1.74122196
179Tetraparesis (HP:0002273)1.73384018
180Increased neuronal autofluorescent lipopigment (HP:0002074)1.73034677
181Neoplasm of the colon (HP:0100273)1.72103653
182Abnormal eating behavior (HP:0100738)1.71170392
183Short middle phalanx of the 5th finger (HP:0004220)1.70083123
184Split foot (HP:0001839)1.69868739
185Delayed gross motor development (HP:0002194)1.69764571
186Hyperthyroidism (HP:0000836)1.68446927
187Abnormality of the vasculature of the conjunctiva (HP:0008054)1.68184092
188Vacuolated lymphocytes (HP:0001922)1.68055809
189Exertional dyspnea (HP:0002875)1.66677016
190Abnormality of the lower motor neuron (HP:0002366)1.66665933
191Ulnar claw (HP:0001178)1.66182887
192T lymphocytopenia (HP:0005403)1.65727222

Predicted kinase interactions (KEA)

RankGene SetZ-score
1INSRR4.77039559
2TRIM283.73008810
3MAPK153.66433622
4NTRK33.53751542
5PASK3.29229624
6CDK193.25695969
7MKNK12.68415002
8MKNK22.67476985
9NTRK12.63230637
10WNK32.63196478
11CAMKK22.48040533
12HIPK22.46503780
13MAP3K92.38292051
14SCYL22.37221062
15MAP3K22.27317091
16ACVR1B2.11414103
17SRPK12.10242700
18UHMK12.09652778
19MAP3K121.97986919
20MARK11.95843738
21MINK11.95029299
22MAP2K71.90046956
23CASK1.82997743
24WNK41.81344488
25MAP3K41.80296415
26WEE11.66864109
27GRK51.63904906
28TAOK31.63091184
29DYRK31.62255390
30FGR1.61319066
31PLK41.60112399
32EIF2AK31.55666085
33PLK31.53372168
34PRKD31.52292382
35MAP3K11.51948250
36CDC71.51309731
37IRAK11.35954985
38NTRK21.34069299
39KSR21.33605040
40MST41.32899419
41ARAF1.32391660
42EPHA31.30210564
43PAK31.29192172
44RPS6KA41.29026083
45CSNK1G11.28469861
46GRK71.22232692
47STK38L1.21842932
48TEC1.19419437
49FER1.16570132
50FGFR11.15583429
51STK241.13593192
52FRK1.13396707
53IRAK21.09021832
54BLK1.08109354
55OBSCN1.08053085
56PNCK1.06836815
57CDK51.06440447
58PRKCE1.06037219
59KDR1.05424967
60STK31.04329100
61CSNK1A1L1.02171229
62PRKCH1.01952602
63RET1.01327027
64EGFR1.01215899
65MAP2K41.00799907
66ERBB31.00147514
67BRD40.99515702
68NEK10.98674510
69LIMK10.97441925
70STK100.95728649
71WNK10.94559545
72MARK30.94383479
73CAMKK10.93698517
74BMPR1B0.92955954
75CDK60.92276178
76MATK0.92204103
77MAPK130.91356400
78ADRBK20.86365422
79PDGFRA0.85351539
80OXSR10.84901604
81CDC42BPA0.84519477
82BUB10.80430488
83FES0.79782668
84BCR0.79580339
85CSF1R0.79181438
86TAF10.79142899
87PHKG20.78913205
88PHKG10.78913205
89TSSK60.78623348
90EIF2AK10.77450972
91TTK0.77442128
92PAK60.76908421
93NUAK10.76763215
94BMX0.76455039
95CAMK2D0.76413346
96PTK20.74730712
97PRKCG0.74305265
98ADRBK10.74269245
99PLK10.74024190
100EIF2AK20.72607891
101IRAK40.72406625
102CDK180.71641884
103SIK30.70928533
104RPS6KA20.66236912
105TIE10.63650026
106PBK0.63556871
107PIK3CG0.63055514
108CAMK2A0.61972744
109CSNK1G20.59842754
110BMPR20.58130989
111NEK20.57517240
112PLK20.57370812
113MUSK0.57271972
114SGK4940.57133209
115SGK2230.57133209
116LYN0.56969402
117CDK11A0.56664698
118MAP2K10.55748394
119CSK0.55704415
120CDK150.55214265
121DYRK1A0.53789107
122RIPK40.52263182
123CAMK2B0.52023817
124BRAF0.51928195
125MAP3K50.51838046
126SIK20.49433759
127DYRK1B0.49301978
128CAMK1G0.49206980
129ERBB40.48723118
130MAP3K100.48249042
131CDK140.47949008
132SGK20.47565753
133PAK40.46486680
134TESK10.46388087
135PDK20.45826053
136FLT30.44592855
137ITK0.44526779
138AKT30.44235739
139ALK0.42651095
140HCK0.42560995
141PINK10.42358353
142ATM0.41822245
143MAPK100.41564631
144CDK30.40737797
145PRKACA0.40626625
146TGFBR20.40373915
147SYK0.40097521
148MOS0.39722519
149ATR0.39669518
150IGF1R0.38889541
151TNK20.38793022
152ZAK0.37817986
153PRKD20.37211990
154NLK0.36467404
155PRPF4B0.35603100
156PRKACG0.34344860
157CSNK1G30.34077231
158ABL10.32264361
159ERBB20.31168033
160RPS6KA30.30599056
161KSR10.29838052
162PRKG10.29190235
163CSNK1A10.28365007
164ERN10.28292872
165SGK10.27892303
166DYRK20.26431043
167TNIK0.26233491
168YES10.25995633

Predicted pathways (KEGG)

RankGene SetZ-score
1Maturity onset diabetes of the young_Homo sapiens_hsa049504.93490536
2Asthma_Homo sapiens_hsa053103.70451910
3Non-homologous end-joining_Homo sapiens_hsa034503.50335490
4Protein export_Homo sapiens_hsa030603.30800886
5Proteasome_Homo sapiens_hsa030502.88895416
6Insulin secretion_Homo sapiens_hsa049112.80296323
7Synaptic vesicle cycle_Homo sapiens_hsa047212.62124037
8Mismatch repair_Homo sapiens_hsa034302.53598291
9Viral myocarditis_Homo sapiens_hsa054162.42238948
10Vibrio cholerae infection_Homo sapiens_hsa051102.41674399
11Graft-versus-host disease_Homo sapiens_hsa053322.37998650
12Pathogenic Escherichia coli infection_Homo sapiens_hsa051302.35049149
13Allograft rejection_Homo sapiens_hsa053302.32075330
14Type I diabetes mellitus_Homo sapiens_hsa049402.17971434
15Collecting duct acid secretion_Homo sapiens_hsa049662.13398534
16Autoimmune thyroid disease_Homo sapiens_hsa053202.06659941
17Cocaine addiction_Homo sapiens_hsa050301.93934651
18GABAergic synapse_Homo sapiens_hsa047271.93748966
19Taste transduction_Homo sapiens_hsa047421.93361073
20Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.87841889
21Type II diabetes mellitus_Homo sapiens_hsa049301.87469707
22Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.85490863
23Legionellosis_Homo sapiens_hsa051341.78528295
24Amphetamine addiction_Homo sapiens_hsa050311.75203610
25Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.73423867
26Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.72918124
27Dopaminergic synapse_Homo sapiens_hsa047281.68773156
28RNA transport_Homo sapiens_hsa030131.65483654
29Circadian entrainment_Homo sapiens_hsa047131.64804099
30Cell cycle_Homo sapiens_hsa041101.63812863
31Nicotine addiction_Homo sapiens_hsa050331.61262073
32Serotonergic synapse_Homo sapiens_hsa047261.59914712
33Basal transcription factors_Homo sapiens_hsa030221.59805028
34Morphine addiction_Homo sapiens_hsa050321.58868514
35Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.57325272
36Long-term potentiation_Homo sapiens_hsa047201.57222644
37Leishmaniasis_Homo sapiens_hsa051401.56079942
38Antigen processing and presentation_Homo sapiens_hsa046121.55892306
39Homologous recombination_Homo sapiens_hsa034401.54400357
40Oxidative phosphorylation_Homo sapiens_hsa001901.52000043
41Staphylococcus aureus infection_Homo sapiens_hsa051501.50722367
42Cholinergic synapse_Homo sapiens_hsa047251.50168758
43Sulfur metabolism_Homo sapiens_hsa009201.48737672
44DNA replication_Homo sapiens_hsa030301.46215279
45Spliceosome_Homo sapiens_hsa030401.41033736
46Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.39952960
47RNA degradation_Homo sapiens_hsa030181.39843190
48Intestinal immune network for IgA production_Homo sapiens_hsa046721.38572196
49Propanoate metabolism_Homo sapiens_hsa006401.31482846
50Fanconi anemia pathway_Homo sapiens_hsa034601.27712049
51* Lysosome_Homo sapiens_hsa041421.26961041
52Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.26264731
53Shigellosis_Homo sapiens_hsa051311.24683984
54Olfactory transduction_Homo sapiens_hsa047401.24225359
55Carbohydrate digestion and absorption_Homo sapiens_hsa049731.22966393
56Tuberculosis_Homo sapiens_hsa051521.22580298
57mRNA surveillance pathway_Homo sapiens_hsa030151.22387341
58Base excision repair_Homo sapiens_hsa034101.17293136
59Glutamatergic synapse_Homo sapiens_hsa047241.17128254
60Long-term depression_Homo sapiens_hsa047301.17121068
61Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.16161381
62Parkinsons disease_Homo sapiens_hsa050121.13060546
63Renin secretion_Homo sapiens_hsa049241.12539463
64Alzheimers disease_Homo sapiens_hsa050101.11776794
65Herpes simplex infection_Homo sapiens_hsa051681.11664562
66Fatty acid elongation_Homo sapiens_hsa000621.11644809
67Adherens junction_Homo sapiens_hsa045201.09405770
68Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.09240417
69Aldosterone synthesis and secretion_Homo sapiens_hsa049251.09110417
70Salmonella infection_Homo sapiens_hsa051321.07270807
71Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.07068233
72Glycosaminoglycan degradation_Homo sapiens_hsa005311.04949983
73Regulation of autophagy_Homo sapiens_hsa041401.02630818
74Estrogen signaling pathway_Homo sapiens_hsa049150.99515831
75p53 signaling pathway_Homo sapiens_hsa041150.97954381
76N-Glycan biosynthesis_Homo sapiens_hsa005100.96315465
77SNARE interactions in vesicular transport_Homo sapiens_hsa041300.96037334
78Phagosome_Homo sapiens_hsa041450.95975028
79Nucleotide excision repair_Homo sapiens_hsa034200.94921975
80Cardiac muscle contraction_Homo sapiens_hsa042600.94906877
81Thyroid hormone synthesis_Homo sapiens_hsa049180.94422637
82NOD-like receptor signaling pathway_Homo sapiens_hsa046210.93449261
83Pancreatic secretion_Homo sapiens_hsa049720.92718623
84Cysteine and methionine metabolism_Homo sapiens_hsa002700.92660926
85Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.92461631
86Gastric acid secretion_Homo sapiens_hsa049710.92339307
87Salivary secretion_Homo sapiens_hsa049700.90297633
88Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.89413108
89Prion diseases_Homo sapiens_hsa050200.86851412
90Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.85944649
91GnRH signaling pathway_Homo sapiens_hsa049120.84255527
92Glucagon signaling pathway_Homo sapiens_hsa049220.83797233
93Epstein-Barr virus infection_Homo sapiens_hsa051690.83589121
94Dorso-ventral axis formation_Homo sapiens_hsa043200.82973441
95Rheumatoid arthritis_Homo sapiens_hsa053230.82438236
96Steroid biosynthesis_Homo sapiens_hsa001000.81526639
97Hematopoietic cell lineage_Homo sapiens_hsa046400.81454095
98Colorectal cancer_Homo sapiens_hsa052100.79535908
99Oxytocin signaling pathway_Homo sapiens_hsa049210.78148121
100Other glycan degradation_Homo sapiens_hsa005110.77432857
101Gap junction_Homo sapiens_hsa045400.76322708
102Vascular smooth muscle contraction_Homo sapiens_hsa042700.76269340
103Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.74267216
104Circadian rhythm_Homo sapiens_hsa047100.73463195
105Wnt signaling pathway_Homo sapiens_hsa043100.73392873
106Calcium signaling pathway_Homo sapiens_hsa040200.71897704
107Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.71620602
108cGMP-PKG signaling pathway_Homo sapiens_hsa040220.71041219
109Alcoholism_Homo sapiens_hsa050340.70450248
110cAMP signaling pathway_Homo sapiens_hsa040240.70415058
111Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.70377881
112Prolactin signaling pathway_Homo sapiens_hsa049170.69857720
113Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.68659984
114Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.66228339
115Platelet activation_Homo sapiens_hsa046110.65291004
1162-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.64609214
117Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.64523941
118Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.63273305
119Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.63158804
120Phosphatidylinositol signaling system_Homo sapiens_hsa040700.62794737
121Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.61915230
122Huntingtons disease_Homo sapiens_hsa050160.61469319
123Osteoclast differentiation_Homo sapiens_hsa043800.61053032
124Neurotrophin signaling pathway_Homo sapiens_hsa047220.60392553
125Insulin signaling pathway_Homo sapiens_hsa049100.58697269
126Melanogenesis_Homo sapiens_hsa049160.57952193
127Glioma_Homo sapiens_hsa052140.54640430
128Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.52416295
129Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.51818008
130Endocytosis_Homo sapiens_hsa041440.51808515
131Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.50310032
132Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.49617941
133Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.48913137
134Regulation of actin cytoskeleton_Homo sapiens_hsa048100.48639191
135ErbB signaling pathway_Homo sapiens_hsa040120.48194024
136Hippo signaling pathway_Homo sapiens_hsa043900.48016719
137Dilated cardiomyopathy_Homo sapiens_hsa054140.47128061
138Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.46832929
139Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.45441672
140Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.44119380
141Sphingolipid metabolism_Homo sapiens_hsa006000.43668391
142Toxoplasmosis_Homo sapiens_hsa051450.43638639
143Renal cell carcinoma_Homo sapiens_hsa052110.43403556
144MAPK signaling pathway_Homo sapiens_hsa040100.42499344
145Pyruvate metabolism_Homo sapiens_hsa006200.42433108
146Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.42165292
147Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.41398507
148Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.41238398
149RNA polymerase_Homo sapiens_hsa030200.40763351
150Insulin resistance_Homo sapiens_hsa049310.39556101
151Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.39192280
152Malaria_Homo sapiens_hsa051440.38061623
153Endometrial cancer_Homo sapiens_hsa052130.37974094
154Systemic lupus erythematosus_Homo sapiens_hsa053220.37108343
155Influenza A_Homo sapiens_hsa051640.36937409
156Leukocyte transendothelial migration_Homo sapiens_hsa046700.36351913
157Rap1 signaling pathway_Homo sapiens_hsa040150.35740732
158Chemokine signaling pathway_Homo sapiens_hsa040620.35721735
159Ras signaling pathway_Homo sapiens_hsa040140.34697876
160Tight junction_Homo sapiens_hsa045300.34689066
161Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.34229695
162Toll-like receptor signaling pathway_Homo sapiens_hsa046200.33888673
163Thyroid cancer_Homo sapiens_hsa052160.33819249
164Oocyte meiosis_Homo sapiens_hsa041140.33816916
165Inositol phosphate metabolism_Homo sapiens_hsa005620.33497206
166Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.33365676
167Phototransduction_Homo sapiens_hsa047440.33051207
168Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.31838863
169Carbon metabolism_Homo sapiens_hsa012000.31281215
170Phospholipase D signaling pathway_Homo sapiens_hsa040720.30512842
171Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.30450993
172Axon guidance_Homo sapiens_hsa043600.29711506

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