AP2M1

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





Description: This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proton pumping occurring in the acidification of endosomes and lysosomes. The encoded protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4 protein. Three 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
1synaptic vesicle docking involved in exocytosis (GO:0016081)7.93289199
2COPI coating of Golgi vesicle (GO:0048205)6.47665828
3Golgi transport vesicle coating (GO:0048200)6.47665828
4synaptic vesicle exocytosis (GO:0016079)6.30921273
5glutamate secretion (GO:0014047)6.20612706
6regulation of synaptic vesicle exocytosis (GO:2000300)6.01980477
7regulation of short-term neuronal synaptic plasticity (GO:0048172)5.95890681
8synaptic vesicle maturation (GO:0016188)5.47334768
9neurotransmitter-gated ion channel clustering (GO:0072578)5.44042688
10regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.38307831
11vocalization behavior (GO:0071625)5.33318112
12protein retention in ER lumen (GO:0006621)5.28812229
13regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)5.25781308
14regulation of synaptic vesicle transport (GO:1902803)5.24869317
15maintenance of protein localization in endoplasmic reticulum (GO:0035437)5.13673997
16positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.98489047
17regulation of glutamate receptor signaling pathway (GO:1900449)4.97453267
18transferrin transport (GO:0033572)4.91071992
19neurotransmitter secretion (GO:0007269)4.89399294
20positive regulation of synapse maturation (GO:0090129)4.70229700
21protein localization to synapse (GO:0035418)4.62269047
22retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)4.59974866
23protein maturation by protein folding (GO:0022417)4.56749884
24trivalent inorganic cation transport (GO:0072512)4.56305210
25ferric iron transport (GO:0015682)4.56305210
26barbed-end actin filament capping (GO:0051016)4.54616268
27ATP hydrolysis coupled proton transport (GO:0015991)4.52840128
28energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)4.52840128
29locomotory exploration behavior (GO:0035641)4.47869571
30neuron cell-cell adhesion (GO:0007158)4.46044166
31protein localization to endosome (GO:0036010)4.39037781
32postsynaptic membrane organization (GO:0001941)4.23734153
33negative regulation of dendrite morphogenesis (GO:0050774)4.20452131
34regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.16670410
35negative regulation of synaptic transmission, GABAergic (GO:0032229)4.13334034
36positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.08888967
37regulation of synapse structural plasticity (GO:0051823)4.06156220
38positive regulation of neurotransmitter transport (GO:0051590)3.97226092
39cytoskeletal anchoring at plasma membrane (GO:0007016)3.94337995
40neuron-neuron synaptic transmission (GO:0007270)3.91171869
41NADH metabolic process (GO:0006734)3.87950428
42synaptic transmission, glutamatergic (GO:0035249)3.86885901
43presynaptic membrane assembly (GO:0097105)3.85409215
44positive regulation of neurotransmitter secretion (GO:0001956)3.85377587
45neuronal action potential propagation (GO:0019227)3.77838980
46long-term synaptic potentiation (GO:0060291)3.76586562
47regulation of early endosome to late endosome transport (GO:2000641)3.75831371
48regulation of neurotransmitter secretion (GO:0046928)3.75185999
49proline transport (GO:0015824)3.73741261
50membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.70115718
51regulation of neuronal synaptic plasticity (GO:0048168)3.69388967
52regulation of synapse maturation (GO:0090128)3.68611251
53presynaptic membrane organization (GO:0097090)3.65204827
54sodium ion export (GO:0071436)3.60950366
55neurotransmitter transport (GO:0006836)3.59246152
56positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.58907816
57positive regulation of membrane potential (GO:0045838)3.56739678
58cerebellar granule cell differentiation (GO:0021707)3.55346006
59negative regulation of dendrite development (GO:2000171)3.54069566
60regulation of long-term neuronal synaptic plasticity (GO:0048169)3.51921298
61ionotropic glutamate receptor signaling pathway (GO:0035235)3.50662485
62phagosome maturation (GO:0090382)3.49672520
63pentose-phosphate shunt (GO:0006098)3.47894124
64gamma-aminobutyric acid transport (GO:0015812)3.47427455
65regulation of neurotransmitter transport (GO:0051588)3.46500094
66regulation of excitatory postsynaptic membrane potential (GO:0060079)3.44032328
67exploration behavior (GO:0035640)3.43099507
68regulation of synaptic plasticity (GO:0048167)3.42426203
69proline biosynthetic process (GO:0006561)3.41292443
70adherens junction assembly (GO:0034333)3.39258311
71regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.39108637
72regulation of neurotransmitter levels (GO:0001505)3.36866992
73activation of protein kinase A activity (GO:0034199)3.35747298
74oxaloacetate metabolic process (GO:0006107)3.35600973
75mechanosensory behavior (GO:0007638)3.32286563
76regulation of synaptic transmission, glutamatergic (GO:0051966)3.29154180
77stress fiber assembly (GO:0043149)3.27784359
78regulation of mammary gland epithelial cell proliferation (GO:0033599)3.27206374
79regulation of postsynaptic membrane potential (GO:0060078)3.26758253
80vesicle coating (GO:0006901)3.26354351
81positive regulation of synaptic transmission (GO:0050806)3.26136727
82vesicle docking involved in exocytosis (GO:0006904)3.24979471
83nuclear envelope reassembly (GO:0031468)3.22983917
84mitotic nuclear envelope reassembly (GO:0007084)3.22983917
85negative regulation of microtubule polymerization (GO:0031115)3.22930213
86synaptic vesicle endocytosis (GO:0048488)3.21564028
87positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.21375604
88establishment of synaptic vesicle localization (GO:0097480)3.20033162
89synaptic vesicle transport (GO:0048489)3.20033162
90negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.19053171
91negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.18357485
92inositol phosphate catabolic process (GO:0071545)3.18194240
93negative regulation of cell size (GO:0045792)3.16917869
94cell-substrate adherens junction assembly (GO:0007045)3.14698876
95focal adhesion assembly (GO:0048041)3.14698876
96response to histamine (GO:0034776)3.13729966
97protein targeting to plasma membrane (GO:0072661)3.13634291
98regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)3.13247150
99positive regulation of synaptic transmission, GABAergic (GO:0032230)3.12380434
100auditory behavior (GO:0031223)3.11917730
101NADPH regeneration (GO:0006740)3.11044214
102cullin deneddylation (GO:0010388)3.06068738
103glutamate receptor signaling pathway (GO:0007215)3.05934074
104peptidyl-arginine omega-N-methylation (GO:0035247)3.05750705
105gamma-aminobutyric acid signaling pathway (GO:0007214)3.03019088
106response to auditory stimulus (GO:0010996)2.98984635
107cerebellar Purkinje cell differentiation (GO:0021702)2.97320014
108cell-substrate junction assembly (GO:0007044)2.97033488
109neuromuscular process controlling posture (GO:0050884)2.96689800
110regulation of synaptic transmission (GO:0050804)2.96385518
111peptidyl-proline hydroxylation (GO:0019511)2.95801789
112G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.95287294
113positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling2.94972892
114actin filament depolymerization (GO:0030042)2.94107259
115cellular potassium ion homeostasis (GO:0030007)2.94087157
116vesicle docking (GO:0048278)2.92956571
117skin morphogenesis (GO:0043589)2.92920861
118establishment of vesicle localization (GO:0051650)2.91969092
119behavioral response to cocaine (GO:0048148)2.91293091
120tricarboxylic acid cycle (GO:0006099)2.90859144
121platelet aggregation (GO:0070527)2.90568360
122regulation of female receptivity (GO:0045924)2.90308825
123positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)2.89975710
124startle response (GO:0001964)2.87246883
125* synaptic transmission (GO:0007268)2.86959749
126regulation of dopamine uptake involved in synaptic transmission (GO:0051584)2.85316723
127regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)2.85316723
128regulation of glutamate secretion (GO:0014048)2.84732969
129regulation of voltage-gated calcium channel activity (GO:1901385)2.84202003
130glucose catabolic process (GO:0006007)2.84028827
131protein deneddylation (GO:0000338)2.82849392
132activation of signaling protein activity involved in unfolded protein response (GO:0006987)2.82565680
133regulation of vesicle fusion (GO:0031338)2.82445718
134adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.82318011
135regulation of synaptic transmission, dopaminergic (GO:0032225)2.82128497
136cell adhesion mediated by integrin (GO:0033627)2.81554746
137serotonin metabolic process (GO:0042428)2.80807305
138layer formation in cerebral cortex (GO:0021819)2.77177233
139nucleobase-containing small molecule interconversion (GO:0015949)2.76228224
140planar cell polarity pathway involved in neural tube closure (GO:0090179)2.74623262
141positive regulation of nuclease activity (GO:0032075)2.73106860
142regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.72709130
143adenine nucleotide transport (GO:0051503)2.71619227
144basement membrane organization (GO:0071711)2.71325576
145activation of Rac GTPase activity (GO:0032863)2.69235702
146positive regulation of receptor recycling (GO:0001921)2.68999904
147regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway 2.68403033
148positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling2.68403033
149protein hydroxylation (GO:0018126)2.67645503
150extracellular fibril organization (GO:0043206)2.66191413
151cortical actin cytoskeleton organization (GO:0030866)2.65497231
152amino acid import (GO:0043090)2.64946329
153establishment of integrated proviral latency (GO:0075713)2.64247357
154epithelial cell-cell adhesion (GO:0090136)2.59807578
155regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.59722332
156glycolytic process (GO:0006096)2.57177646
157histone arginine methylation (GO:0034969)2.57142233
158apoptotic cell clearance (GO:0043277)2.55999328
159glucose 6-phosphate metabolic process (GO:0051156)2.54491109
160endoplasmic reticulum unfolded protein response (GO:0030968)2.54419289
161type B pancreatic cell proliferation (GO:0044342)2.54385679
162endoplasmic reticulum calcium ion homeostasis (GO:0032469)2.52422186
163semaphorin-plexin signaling pathway (GO:0071526)2.50503692
164cellular copper ion homeostasis (GO:0006878)2.49949763
165UV protection (GO:0009650)2.48315016
166pinocytosis (GO:0006907)2.45064863
167maternal placenta development (GO:0001893)2.44323691
168positive regulation of protein dephosphorylation (GO:0035307)2.43724076
169regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway 2.42870420
170deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.42358920
171regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.40954525
172actin filament bundle assembly (GO:0051017)2.40895708
173actin filament bundle organization (GO:0061572)2.40895708
174negative regulation of release of cytochrome c from mitochondria (GO:0090201)2.39444046
175establishment of viral latency (GO:0019043)2.39201212
176hyaluronan catabolic process (GO:0030214)2.38769238
177peptidyl-arginine methylation (GO:0018216)2.38413865
178peptidyl-arginine N-methylation (GO:0035246)2.38413865
179endodermal cell differentiation (GO:0035987)2.37192543
180protein complex localization (GO:0031503)2.34990057
181regulation of nuclease activity (GO:0032069)2.34961967
182DNA unwinding involved in DNA replication (GO:0006268)2.34315954
183ER-nucleus signaling pathway (GO:0006984)2.33862348
184positive regulation of blood vessel endothelial cell migration (GO:0043536)2.33352550
185cerebellar Purkinje cell layer development (GO:0021680)2.33110723
186cortical cytoskeleton organization (GO:0030865)2.33067676
187cellular response to unfolded protein (GO:0034620)2.32816027

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GBX2_23144817_ChIP-Seq_PC3_Human4.86104528
2EZH2_22144423_ChIP-Seq_EOC_Human4.56838271
3NR4A2_19515692_ChIP-ChIP_MN9D_Mouse3.45458527
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.31599353
5* REST_21632747_ChIP-Seq_MESCs_Mouse3.17226184
6EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.07395445
7* REST_18959480_ChIP-ChIP_MESCs_Mouse3.02633895
8SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.02049498
9RARB_27405468_Chip-Seq_BRAIN_Mouse3.01953644
10CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.94218657
11RARG_19884340_ChIP-ChIP_MEFs_Mouse2.88084981
12MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.79479161
13TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.75162278
14SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.59671453
15JARID2_20064375_ChIP-Seq_MESCs_Mouse2.55803307
16JARID2_20075857_ChIP-Seq_MESCs_Mouse2.54135899
17IKZF1_21737484_ChIP-ChIP_HCT116_Human2.54065607
18RNF2_18974828_ChIP-Seq_MESCs_Mouse2.52112760
19EZH2_18974828_ChIP-Seq_MESCs_Mouse2.52112760
20SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.49761111
21SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.44781473
22SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.38442033
23TP63_17297297_ChIP-ChIP_HaCaT_Human2.35859725
24LXR_22292898_ChIP-Seq_THP-1_Human2.33218421
25* ELK3_25401928_ChIP-Seq_HUVEC_Human2.32517434
26PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.32321832
27TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.31804949
28GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.30534779
29ZNF263_19887448_ChIP-Seq_K562_Human2.30088109
30NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.27056593
31MTF2_20144788_ChIP-Seq_MESCs_Mouse2.21685119
32EZH2_27304074_Chip-Seq_ESCs_Mouse2.18868292
33NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.17623822
34ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.16014309
35DROSHA_22980978_ChIP-Seq_HELA_Human2.15822959
36EED_16625203_ChIP-ChIP_MESCs_Mouse2.15105051
37* CTBP2_25329375_ChIP-Seq_LNCAP_Human2.14225662
38TAF15_26573619_Chip-Seq_HEK293_Human2.04685750
39CLOCK_20551151_ChIP-Seq_293T_Human2.00513777
40* HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.96993545
41SUZ12_27294783_Chip-Seq_ESCs_Mouse1.96872059
42CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.96581161
43CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.94713974
44NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.92400050
45MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.92191593
46EZH2_27294783_Chip-Seq_ESCs_Mouse1.91018405
47* RACK7_27058665_Chip-Seq_MCF-7_Human1.89614316
48PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.88421423
49SRY_22984422_ChIP-ChIP_TESTIS_Rat1.85589463
50DNAJC2_21179169_ChIP-ChIP_NT2_Human1.83612567
51TRIM28_21343339_ChIP-Seq_HEK293_Human1.82839899
52RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.78153420
53TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.75994228
54ERG_21242973_ChIP-ChIP_JURKAT_Human1.75411607
55RNF2_27304074_Chip-Seq_ESCs_Mouse1.74906200
56DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.74420464
57E2F7_22180533_ChIP-Seq_HELA_Human1.74259142
58KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.71081063
59POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.69948217
60EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.69666436
61WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.67709932
62TET1_21451524_ChIP-Seq_MESCs_Mouse1.63042906
63* SMAD4_21799915_ChIP-Seq_A2780_Human1.59045873
64KDM2B_26808549_Chip-Seq_SUP-B15_Human1.59030095
65EGR1_19374776_ChIP-ChIP_THP-1_Human1.57048850
66ZFP281_18757296_ChIP-ChIP_E14_Mouse1.56881076
67* CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.56527923
68* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.56072612
69KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.55615303
70* KLF4_18555785_ChIP-Seq_MESCs_Mouse1.51175171
71KDM2B_26808549_Chip-Seq_K562_Human1.50612098
72* THAP11_20581084_ChIP-Seq_MESCs_Mouse1.49377489
73VDR_21846776_ChIP-Seq_THP-1_Human1.48942404
74CTBP1_25329375_ChIP-Seq_LNCAP_Human1.48382826
75* P300_27058665_Chip-Seq_ZR-75-30cells_Human1.47925969
76ZFX_18555785_ChIP-Seq_MESCs_Mouse1.47660851
77MYC_22102868_ChIP-Seq_BL_Human1.47576052
78SOX2_21211035_ChIP-Seq_LN229_Gbm1.44078829
79TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.43571105
80SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.43502046
81MYC_18555785_ChIP-Seq_MESCs_Mouse1.43060007
82SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.42213005
83ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.40617284
84ESR2_21235772_ChIP-Seq_MCF-7_Human1.39321129
85NR3C1_23031785_ChIP-Seq_PC12_Mouse1.38972141
86MYC_18358816_ChIP-ChIP_MESCs_Mouse1.38598670
87* CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.38527314
88NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.38344669
89TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.37057631
90ZFP57_27257070_Chip-Seq_ESCs_Mouse1.36797832
91KDM2B_26808549_Chip-Seq_DND41_Human1.36119060
92RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.35551324
93HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.34511477
94MYC_19079543_ChIP-ChIP_MESCs_Mouse1.33718024
95AR_25329375_ChIP-Seq_VCAP_Human1.33423575
96P300_19829295_ChIP-Seq_ESCs_Human1.33367497
97KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.33138687
98ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.32754537
99PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.32513388
100RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.31940954
101SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.29731406
102TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.29678673
103CTCF_27219007_Chip-Seq_ERYTHROID_Human1.29355239
104NELFA_20434984_ChIP-Seq_ESCs_Mouse1.24773299
105RBPJ_22232070_ChIP-Seq_NCS_Mouse1.24703021
106SMAD_19615063_ChIP-ChIP_OVARY_Human1.23305178
107* XRN2_22483619_ChIP-Seq_HELA_Human1.22255572
108P68_20966046_ChIP-Seq_HELA_Human1.22054123
109FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.21743137
110* ATF3_27146783_Chip-Seq_COLON_Human1.21591105
111SETDB1_19884255_ChIP-Seq_MESCs_Mouse1.20637743
112FOXM1_23109430_ChIP-Seq_U2OS_Human1.19657308
113CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.19584325
114PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.19048304
115KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.18262002
116TP53_22127205_ChIP-Seq_IMR90_Human1.18142622
117* SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.18063321
118P53_22127205_ChIP-Seq_FIBROBLAST_Human1.17576171
119TCF7_22412390_ChIP-Seq_EML_Mouse1.17506701
120* SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.17246892
121EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.16572297
122VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.16413618
123SA1_27219007_Chip-Seq_ERYTHROID_Human1.16065297
124ESR1_15608294_ChIP-ChIP_MCF-7_Human1.15771621
125PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.14863713
126AR_19668381_ChIP-Seq_PC3_Human1.13874204
127* OCT4_18692474_ChIP-Seq_MEFs_Mouse1.13240270
128TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.12047332
129SMC4_20622854_ChIP-Seq_HELA_Human1.11568997
130BMI1_23680149_ChIP-Seq_NPCS_Mouse1.11552180
131JUN_21703547_ChIP-Seq_K562_Human1.10669471
132OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.10040007
133NANOG_18555785_ChIP-Seq_MESCs_Mouse1.09890488
134SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.09746642
135SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.09564691
136TOP2B_26459242_ChIP-Seq_MCF-7_Human1.09288828
137TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.08484589
138TBX5_21415370_ChIP-Seq_HL-1_Mouse1.06537610
139TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse1.05962404
140TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.05725668
141MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.05010964
142MYC_19030024_ChIP-ChIP_MESCs_Mouse1.04908865
143STAT3_1855785_ChIP-Seq_MESCs_Mouse1.04469724
144SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.04394826
145TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.04222091
146CREB1_26743006_Chip-Seq_LNCaP_Human1.03887061
147HIF1A_21447827_ChIP-Seq_MCF-7_Human1.03723506
148TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.01944213
149GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01780020
150ELF1_20517297_ChIP-Seq_JURKAT_Human1.01353935
151CTCF_18555785_ChIP-Seq_MESCs_Mouse1.00752861
152SMAD3_21741376_ChIP-Seq_EPCs_Human1.00597492
153AR_21572438_ChIP-Seq_LNCaP_Human1.00464911
154* E2F1_18555785_ChIP-Seq_MESCs_Mouse1.00047053
155YAP1_20516196_ChIP-Seq_MESCs_Mouse0.99123013
156GATA1_22383799_ChIP-Seq_G1ME_Mouse0.98564249
157STAT3_23295773_ChIP-Seq_U87_Human0.97712326
158PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.97360705
159* SOX9_26525672_Chip-Seq_HEART_Mouse0.97107885
160IGF1R_20145208_ChIP-Seq_DFB_Human0.96689236
161CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.95444436
162CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.94026274
163TET1_21490601_ChIP-Seq_MESCs_Mouse0.93166713
164PRDM14_20953172_ChIP-Seq_ESCs_Human0.93155603
165THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.92762784
166TCF4_23295773_ChIP-Seq_U87_Human0.92664987
167RNF2_27304074_Chip-Seq_NSC_Mouse0.92503843
168SMAD4_21741376_ChIP-Seq_ESCs_Human0.92458442
169RXR_22108803_ChIP-Seq_LS180_Human0.90881082
170* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.89948742
171SMAD3_21741376_ChIP-Seq_ESCs_Human0.88746681
172MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.86146804
173ZNF274_21170338_ChIP-Seq_K562_Hela0.84909497
174RING1B_27294783_Chip-Seq_ESCs_Mouse0.84566212
175CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.82947814
176ARNT_22903824_ChIP-Seq_MCF-7_Human0.82457828
177POU3F2_20337985_ChIP-ChIP_501MEL_Human0.81679900
178RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.80516895
179E2F1_17053090_ChIP-ChIP_MCF-7_Human0.76385698
180KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse0.75852718
181CBX2_27304074_Chip-Seq_ESCs_Mouse0.73442709

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.95281081
2MP0003705_abnormal_hypodermis_morpholog4.98549368
3MP0008438_abnormal_cutaneous_collagen4.90563207
4MP0003880_abnormal_central_pattern4.47539599
5MP0003635_abnormal_synaptic_transmissio3.90448363
6MP0001968_abnormal_touch/_nociception3.87583787
7MP0002736_abnormal_nociception_after3.62174824
8MP0003566_abnormal_cell_adhesion3.35270307
9MP0004270_analgesia3.35214828
10MP0009745_abnormal_behavioral_response3.29964056
11MP0009046_muscle_twitch3.29583126
12MP0002064_seizures3.27843412
13MP0002063_abnormal_learning/memory/cond3.25943906
14MP0002735_abnormal_chemical_nociception3.08926287
15MP0005623_abnormal_meninges_morphology3.01828743
16MP0002877_abnormal_melanocyte_morpholog2.84649843
17MP0002734_abnormal_mechanical_nocicepti2.80623535
18MP0002572_abnormal_emotion/affect_behav2.74993384
19MP0009780_abnormal_chondrocyte_physiolo2.70415928
20MP0002822_catalepsy2.66531785
21MP0005058_abnormal_lysosome_morphology2.63741626
22MP0003879_abnormal_hair_cell2.58424185
23MP0003787_abnormal_imprinting2.52666847
24MP0001849_ear_inflammation2.47344487
25MP0005257_abnormal_intraocular_pressure2.46387814
26MP0004272_abnormal_basement_membrane2.46189325
27MP0002272_abnormal_nervous_system2.37893354
28MP0003279_aneurysm2.33020096
29MP0005646_abnormal_pituitary_gland2.30960100
30MP0004858_abnormal_nervous_system2.25264565
31MP0002733_abnormal_thermal_nociception2.16121965
32MP0003122_maternal_imprinting2.13309079
33MP0001970_abnormal_pain_threshold2.08995006
34MP0001958_emphysema2.06466294
35MP0002067_abnormal_sensory_capabilities2.04481488
36MP0004811_abnormal_neuron_physiology2.02338225
37MP0001440_abnormal_grooming_behavior1.82162789
38MP0001348_abnormal_lacrimal_gland1.82046959
39MP0003183_abnormal_peptide_metabolism1.81705230
40MP0003191_abnormal_cellular_cholesterol1.77834852
41MP0001501_abnormal_sleep_pattern1.76479978
42MP0006276_abnormal_autonomic_nervous1.74282237
43MP0001486_abnormal_startle_reflex1.74223030
44MP0002184_abnormal_innervation1.70470191
45MP0008569_lethality_at_weaning1.66721863
46MP0002909_abnormal_adrenal_gland1.65343982
47MP0010386_abnormal_urinary_bladder1.64710605
48MP0003091_abnormal_cell_migration1.64246121
49MP0005386_behavior/neurological_phenoty1.59328337
50MP0004924_abnormal_behavior1.59328337
51MP0002876_abnormal_thyroid_physiology1.58508334
52MP0005423_abnormal_somatic_nervous1.56904507
53MP0002557_abnormal_social/conspecific_i1.54567526
54MP0010030_abnormal_orbit_morphology1.49574350
55MP0002060_abnormal_skin_morphology1.45796396
56MP0005275_abnormal_skin_tensile1.44364854
57MP0009840_abnormal_foam_cell1.42865533
58MP0001542_abnormal_bone_strength1.42434096
59MP0005501_abnormal_skin_physiology1.42285983
60MP0002653_abnormal_ependyma_morphology1.38929014
61MP0005023_abnormal_wound_healing1.37564229
62MP0010368_abnormal_lymphatic_system1.35806598
63MP0010352_gastrointestinal_tract_polyps1.34749442
64MP0000778_abnormal_nervous_system1.34388280
65MP0010234_abnormal_vibrissa_follicle1.34322677
66MP0000537_abnormal_urethra_morphology1.31260162
67MP0000751_myopathy1.30543304
68MP0002066_abnormal_motor_capabilities/c1.30347448
69MP0001984_abnormal_olfaction1.30161752
70MP0001529_abnormal_vocalization1.29517542
71MP0000955_abnormal_spinal_cord1.27663655
72MP0003633_abnormal_nervous_system1.24401744
73MP0009384_cardiac_valve_regurgitation1.24398745
74MP0002882_abnormal_neuron_morphology1.23122604
75MP0000013_abnormal_adipose_tissue1.22280709
76MP0003329_amyloid_beta_deposits1.21888333
77MP0008004_abnormal_stomach_pH1.18058129
78MP0002796_impaired_skin_barrier1.17116743
79MP0001905_abnormal_dopamine_level1.12768272
80MP0005409_darkened_coat_color1.11143977
81MP0004142_abnormal_muscle_tone1.10833968
82MP0008932_abnormal_embryonic_tissue1.10253920
83MP0000858_altered_metastatic_potential1.10214947
84MP0005451_abnormal_body_composition1.10005021
85MP0000579_abnormal_nail_morphology1.09848158
86MP0008260_abnormal_autophagy1.09163010
87MP0000747_muscle_weakness1.08591528
88MP0005503_abnormal_tendon_morphology1.08023469
89MP0008872_abnormal_physiological_respon1.07603608
90MP0001730_embryonic_growth_arrest1.06344599
91MP0002896_abnormal_bone_mineralization1.06203816
92MP0005508_abnormal_skeleton_morphology1.05707914
93MP0001188_hyperpigmentation1.05604280
94MP0001986_abnormal_taste_sensitivity1.04324889
95MP0003111_abnormal_nucleus_morphology1.03003029
96MP0005165_increased_susceptibility_to1.02958890
97MP0001243_abnormal_dermal_layer1.02743310
98MP0003123_paternal_imprinting1.02297589
99MP0003631_nervous_system_phenotype1.02218994
100MP0000003_abnormal_adipose_tissue1.01362204
101* MP0005621_abnormal_cell_physiology1.01254222
102MP0002295_abnormal_pulmonary_circulatio1.00886432
103MP0000767_abnormal_smooth_muscle1.00615947
104MP0000534_abnormal_ureter_morphology0.99608577
105MP0005464_abnormal_platelet_physiology0.99515121
106MP0001299_abnormal_eye_distance/0.99155227
107MP0002069_abnormal_eating/drinking_beha0.98595075
108MP0003453_abnormal_keratinocyte_physiol0.96071545
109MP0003941_abnormal_skin_development0.96059330
110MP0000759_abnormal_skeletal_muscle0.94162956
111MP0002089_abnormal_postnatal_growth/wei0.94035330
112MP0009278_abnormal_bone_marrow0.93565044
113MP0001502_abnormal_circadian_rhythm0.92302022
114MP0000920_abnormal_myelination0.91376286
115MP0009672_abnormal_birth_weight0.90634689
116MP0000750_abnormal_muscle_regeneration0.90059388
117MP0003950_abnormal_plasma_membrane0.89527817
118MP0000467_abnormal_esophagus_morphology0.88349134
119MP0002152_abnormal_brain_morphology0.87338439
120MP0005645_abnormal_hypothalamus_physiol0.86973911
121MP0008877_abnormal_DNA_methylation0.86491994
122MP0004185_abnormal_adipocyte_glucose0.83711186
123* MP0002080_prenatal_lethality0.83118421
124MP0003121_genomic_imprinting0.83096811
125MP0000343_altered_response_to0.82828653
126MP0001664_abnormal_digestion0.82763037
127MP0002751_abnormal_autonomic_nervous0.82741941
128MP0000358_abnormal_cell_content/0.82479204
129MP0003385_abnormal_body_wall0.82331610
130MP0008874_decreased_physiological_sensi0.81324573
131MP0010771_integument_phenotype0.81010006
132* MP0005384_cellular_phenotype0.80922041
133MP0001881_abnormal_mammary_gland0.80664226
134MP0000681_abnormal_thyroid_gland0.80031009
135MP0001915_intracranial_hemorrhage0.79405347
136MP0005076_abnormal_cell_differentiation0.79053644
137MP0003172_abnormal_lysosome_physiology0.78799995
138MP0000733_abnormal_muscle_development0.78782591
139MP0004885_abnormal_endolymph0.78445318
140MP0002229_neurodegeneration0.78029450
141MP0002837_dystrophic_cardiac_calcinosis0.77619010
142MP0001963_abnormal_hearing_physiology0.76171177
143MP0000462_abnormal_digestive_system0.76105381
144MP0000762_abnormal_tongue_morphology0.75795958
145MP0000678_abnormal_parathyroid_gland0.75347919
146MP0004957_abnormal_blastocyst_morpholog0.74896579
147MP0009053_abnormal_anal_canal0.74814155
148MP0003448_altered_tumor_morphology0.74197664
149MP0004085_abnormal_heartbeat0.73654356
150MP0001177_atelectasis0.73403538
151MP0000350_abnormal_cell_proliferation0.72461231
152MP0004043_abnormal_pH_regulation0.71867920
153MP0005499_abnormal_olfactory_system0.71759265
154MP0005394_taste/olfaction_phenotype0.71759265
155MP0008007_abnormal_cellular_replicative0.70268134
156MP0004233_abnormal_muscle_weight0.68372721
157MP0004147_increased_porphyrin_level0.66647028
158MP0000749_muscle_degeneration0.66361289
159MP0000569_abnormal_digit_pigmentation0.65752461
160MP0003646_muscle_fatigue0.63833716
161MP0000604_amyloidosis0.61816376
162MP0003634_abnormal_glial_cell0.61679641
163MP0005551_abnormal_eye_electrophysiolog0.57443733
164MP0001943_abnormal_respiration0.56988721
165MP0003632_abnormal_nervous_system0.56778283
166MP0003075_altered_response_to0.56514597
167MP0004484_altered_response_of0.55948295
168MP0005171_absent_coat_pigmentation0.55773037
169MP0010770_preweaning_lethality0.54759028
170MP0002082_postnatal_lethality0.54759028
171MP0010769_abnormal_survival0.52993928
172MP0003656_abnormal_erythrocyte_physiolo0.50790192
173MP0003956_abnormal_body_size0.50486279
174MP0004130_abnormal_muscle_cell0.49844604
175MP0002752_abnormal_somatic_nervous0.49664559
176MP0010768_mortality/aging0.48768938
177MP0000631_abnormal_neuroendocrine_gland0.48694021

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.07880567
2Epileptic encephalopathy (HP:0200134)5.68263304
3Myokymia (HP:0002411)5.67345062
4Atonic seizures (HP:0010819)5.42357737
5Premature rupture of membranes (HP:0001788)5.30862701
6Focal seizures (HP:0007359)4.84070262
7Febrile seizures (HP:0002373)4.54282470
8Protrusio acetabuli (HP:0003179)4.53033929
9Hyperventilation (HP:0002883)4.46870670
10Pheochromocytoma (HP:0002666)4.29135825
11Visual hallucinations (HP:0002367)4.21958878
12Neuroendocrine neoplasm (HP:0100634)3.97251791
13Absence seizures (HP:0002121)3.89785058
14Vertebral compression fractures (HP:0002953)3.76544997
15Dialeptic seizures (HP:0011146)3.63006011
16Upper limb amyotrophy (HP:0009129)3.53016416
17Distal upper limb amyotrophy (HP:0007149)3.53016416
18Abnormal hair whorl (HP:0010721)3.50417432
19Generalized tonic-clonic seizures (HP:0002069)3.49351510
20Failure to thrive in infancy (HP:0001531)3.44997188
21Abnormal eating behavior (HP:0100738)3.44082926
22Progressive cerebellar ataxia (HP:0002073)3.41983059
23Insomnia (HP:0100785)3.41682244
24Abnormality of the lower motor neuron (HP:0002366)3.37334769
25Hyperacusis (HP:0010780)3.33030135
26Polyphagia (HP:0002591)3.24415504
27Hand muscle atrophy (HP:0009130)3.19435872
28Poor suck (HP:0002033)3.13504703
29Ankle clonus (HP:0011448)3.05980964
30Ankle contracture (HP:0006466)3.04892498
31Impaired vibration sensation in the lower limbs (HP:0002166)3.01970564
32Spinal rigidity (HP:0003306)3.01966215
33Depression (HP:0000716)2.95376484
34Distal lower limb amyotrophy (HP:0008944)2.90013441
35Oligomenorrhea (HP:0000876)2.88202620
36Neoplasm of the peripheral nervous system (HP:0100007)2.86936755
37Resting tremor (HP:0002322)2.83719710
38Abnormality of pain sensation (HP:0010832)2.81894888
39Impaired pain sensation (HP:0007328)2.81894888
40Poor eye contact (HP:0000817)2.80128688
41Broad-based gait (HP:0002136)2.77485223
42Hypoventilation (HP:0002791)2.73569815
43Achilles tendon contracture (HP:0001771)2.72450850
44Lower limb amyotrophy (HP:0007210)2.71435007
45Distal lower limb muscle weakness (HP:0009053)2.71097679
46Epileptiform EEG discharges (HP:0011182)2.68862140
47Cerebral inclusion bodies (HP:0100314)2.64623669
48Fragile skin (HP:0001030)2.61248422
49Limb dystonia (HP:0002451)2.59079170
50Bladder diverticulum (HP:0000015)2.57420979
51Amblyopia (HP:0000646)2.56722681
52Abnormal social behavior (HP:0012433)2.52704450
53Impaired social interactions (HP:0000735)2.52704450
54Cervical subluxation (HP:0003308)2.52603600
55Abnormality of glycolysis (HP:0004366)2.50463433
56Increased serum pyruvate (HP:0003542)2.50463433
57Spinal canal stenosis (HP:0003416)2.50267621
58Torticollis (HP:0000473)2.47359000
59Abnormality of the labia minora (HP:0012880)2.46333606
60Focal dystonia (HP:0004373)2.44290696
61Atrophic scars (HP:0001075)2.43763636
62Wormian bones (HP:0002645)2.42923821
63Anxiety (HP:0000739)2.39491280
64Shallow orbits (HP:0000586)2.39021315
65Truncal ataxia (HP:0002078)2.38429681
66EEG with generalized epileptiform discharges (HP:0011198)2.37993008
67Abnormality of the Achilles tendon (HP:0005109)2.36755366
68Abnormality of dentin (HP:0010299)2.36275265
69Fetal akinesia sequence (HP:0001989)2.35547661
70Neurofibrillary tangles (HP:0002185)2.35498592
71Gaze-evoked nystagmus (HP:0000640)2.31890888
72Back pain (HP:0003418)2.31614520
73Hypsarrhythmia (HP:0002521)2.30675710
74Osteolytic defects of the hand bones (HP:0009699)2.30289382
75Osteolytic defects of the phalanges of the hand (HP:0009771)2.30289382
76Increased connective tissue (HP:0009025)2.27322175
77Cerebral aneurysm (HP:0004944)2.26523299
78Protruding tongue (HP:0010808)2.26451295
79Shoulder girdle muscle weakness (HP:0003547)2.26425400
80Urinary urgency (HP:0000012)2.26364229
81Centrally nucleated skeletal muscle fibers (HP:0003687)2.26111757
82Ulnar bowing (HP:0003031)2.26073417
83Dysmetric saccades (HP:0000641)2.25910294
84Bradykinesia (HP:0002067)2.23931579
85Long palpebral fissure (HP:0000637)2.22588410
86Short nail (HP:0001799)2.20682045
87Urinary bladder sphincter dysfunction (HP:0002839)2.19707933
88Craniofacial dystonia (HP:0012179)2.19216616
89Vascular tortuosity (HP:0004948)2.18221897
90Action tremor (HP:0002345)2.18069297
91Generalized hypotonia (HP:0001290)2.17502900
92Gait imbalance (HP:0002141)2.16659468
93Genu recurvatum (HP:0002816)2.14393431
94Increased variability in muscle fiber diameter (HP:0003557)2.13765037
95Blue sclerae (HP:0000592)2.12772412
96Narrow nasal bridge (HP:0000446)2.10390644
97Bowel diverticulosis (HP:0005222)2.09848893
98Aortic dissection (HP:0002647)2.08901275
99Dysdiadochokinesis (HP:0002075)2.08872547
100Difficulty climbing stairs (HP:0003551)2.08554455
101Apathy (HP:0000741)2.08138803
102Neoplasm of the adrenal gland (HP:0100631)2.08090741
103Inability to walk (HP:0002540)2.07946767
104Arterial tortuosity (HP:0005116)2.06458559
105Abnormality of skeletal muscle fiber size (HP:0012084)2.05331706
106Abnormality of the vocal cords (HP:0008777)2.04878699
107Termporal pattern (HP:0011008)2.04313107
108Insidious onset (HP:0003587)2.04313107
109Neuroblastic tumors (HP:0004376)2.04015483
110Peripheral primitive neuroectodermal neoplasm (HP:0030067)2.04015483
111Neuroblastoma (HP:0003006)2.04015483
112Primitive neuroectodermal tumor (HP:0030065)2.04015483
113Overriding aorta (HP:0002623)2.02435651
114Cholecystitis (HP:0001082)2.01607048
115Abnormal gallbladder physiology (HP:0012438)2.01607048
116Progressive inability to walk (HP:0002505)2.01575535
117Hypercortisolism (HP:0001578)2.01066551
118Diminished motivation (HP:0000745)2.00900326
119Mutism (HP:0002300)2.00404590
120Impaired smooth pursuit (HP:0007772)2.00134706
121Mildly elevated creatine phosphokinase (HP:0008180)2.00097265
122Delusions (HP:0000746)1.99930129
123Postural instability (HP:0002172)1.98827569
124Renal duplication (HP:0000075)1.98482595
125Elbow flexion contracture (HP:0002987)1.97829732
126Generalized amyotrophy (HP:0003700)1.97231113
127Nephrogenic diabetes insipidus (HP:0009806)1.96551699
128Incomplete penetrance (HP:0003829)1.95455290
129Mitral regurgitation (HP:0001653)1.95440501
130Dilatation of the ascending aorta (HP:0005111)1.95394435
131Biconcave vertebral bodies (HP:0004586)1.95283156
132Akinesia (HP:0002304)1.93760752
133Status epilepticus (HP:0002133)1.92196491
134Specific learning disability (HP:0001328)1.92097953
135Hyperparathyroidism (HP:0000843)1.92019604
136Impaired vibratory sensation (HP:0002495)1.91752744
137Congenital primary aphakia (HP:0007707)1.91511876
138Esotropia (HP:0000565)1.91336817
139Annular pancreas (HP:0001734)1.91257042
140Neuronal loss in central nervous system (HP:0002529)1.90433192
141Menstrual irregularities (HP:0000858)1.90129491
142Hammertoe (HP:0001765)1.89831177
143Supranuclear gaze palsy (HP:0000605)1.89616671
144Upper limb muscle weakness (HP:0003484)1.88781405
145J-shaped sella turcica (HP:0002680)1.87106357
146Sleep apnea (HP:0010535)1.86931052
147Disproportionate tall stature (HP:0001519)1.86328393
148Abnormality of binocular vision (HP:0011514)1.85969543
149Diplopia (HP:0000651)1.85969543
150Reticulocytosis (HP:0001923)1.85510184
151Stereotypic behavior (HP:0000733)1.84754902
152Spinal cord compression (HP:0002176)1.84509801
153Hyperthyroidism (HP:0000836)1.82562923
154Abnormality of oral frenula (HP:0000190)1.82454076
155Distal sensory impairment (HP:0002936)1.82293068
156Agnosia (HP:0010524)1.81940052
157Trismus (HP:0000211)1.81773134
158Pointed chin (HP:0000307)1.80951204
159Aortic aneurysm (HP:0004942)1.79270813
160Blue irides (HP:0000635)1.79192596
161Abnormality of liposaccharide metabolism (HP:0010968)1.78785375
162Abnormality of glycosphingolipid metabolism (HP:0004343)1.78785375
163Abnormality of glycolipid metabolism (HP:0010969)1.78785375
164Lower limb muscle weakness (HP:0007340)1.77704583
165Medial flaring of the eyebrow (HP:0010747)1.77647542
166Abnormal mitochondria in muscle tissue (HP:0008316)1.77634225
167Spastic gait (HP:0002064)1.76995265
168Elfin facies (HP:0004428)1.75379042
169Patellar dislocation (HP:0002999)1.74564723
170Tetraplegia (HP:0002445)1.74477162
171Nuclear cataract (HP:0100018)1.74038073
172Cholelithiasis (HP:0001081)1.73433782
173Broad metatarsal (HP:0001783)1.73166321
174Ankyloglossia (HP:0010296)1.73042197
175Slender build (HP:0001533)1.72789048
176Cerebral hypomyelination (HP:0006808)1.72582713
177Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.72142192
178Dysostosis multiplex (HP:0000943)1.71226998
179Abnormality of the umbilical cord (HP:0010881)1.71137455
180Abnormality of the distal phalanges of the toes (HP:0010182)1.68929092
181Obstructive sleep apnea (HP:0002870)1.68653320
182Upper motor neuron abnormality (HP:0002127)1.68135846
183Long toe (HP:0010511)1.67802839
184Stridor (HP:0010307)1.67018560
185Congenital glaucoma (HP:0001087)1.66079341
186Flat cornea (HP:0007720)1.65899393
187Increased mean platelet volume (HP:0011877)1.65082672
188Abnormality of the acetabulum (HP:0003170)1.64827463
189Hyperextensible skin (HP:0000974)1.64155949

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK5.83789641
2MAP3K123.99126770
3DAPK23.32243913
4CDK193.22515265
5TRIB33.16153698
6NTRK33.03062592
7CCNB12.85964711
8DAPK12.84561128
9MAP2K72.65763322
10EPHA42.58895701
11MAP3K42.47072322
12PLK22.46526858
13MINK12.44094065
14PRPF4B2.41530917
15AKT32.39102742
16SMG12.37242166
17TSSK62.36621298
18NME22.16272450
19SIK32.14684007
20MAP3K92.03676830
21PAK42.00188839
22NEK11.95438377
23MARK11.93499140
24PDGFRA1.85720872
25RIPK11.83370533
26TTN1.80257934
27IRAK31.72788433
28MAP2K41.71726443
29PTK21.67483994
30ERN11.65497002
31ICK1.65283338
32CAMKK11.61605828
33CAMKK21.61406714
34EPHA21.60916909
35SGK21.50630717
36SGK4941.40914189
37SGK2231.40914189
38EEF2K1.38851055
39PIM21.38670232
40SIK11.37808406
41ARAF1.36357701
42PAK21.36291337
43PKN21.35857624
44PRKCG1.33584957
45LIMK11.26929801
46PAK61.24653525
47KSR11.15060475
48SGK31.13979681
49TESK11.11552174
50BRAF1.10899635
51CDK51.10154476
52GRK51.06169955
53PDK31.05966242
54PDK41.05966242
55CDK181.05176382
56VRK21.05059957
57DAPK31.04508798
58PBK1.03650143
59MAPK131.03465997
60KSR20.99954868
61NTRK20.94760916
62CDK150.93881406
63BMX0.92909807
64CDK140.92142508
65ILK0.89752850
66SCYL20.89171417
67OXSR10.88744815
68MST1R0.86496547
69EPHB10.86455549
70MET0.85361366
71PAK10.84718584
72CDK11A0.82052968
73MAP3K80.81760277
74NTRK10.78592398
75PRKCH0.77574758
76LMTK20.75515926
77MAPKAPK30.75086420
78RPS6KA20.75063644
79BRSK10.74977595
80MYLK0.74612732
81PRKG20.74060383
82ABL20.73990731
83ERBB40.73504435
84PTK2B0.72950088
85DDR20.72839450
86PRKD30.72424341
87MOS0.71204405
88NME10.71198631
89LRRK20.71161451
90KDR0.69924366
91RIPK40.67639485
92PRKD20.67005615
93MAP2K10.66260497
94CAMK2A0.66222564
95TESK20.65893273
96AURKA0.63496390
97FER0.63409737
98MTOR0.62164722
99ERBB30.61584467
100ADRBK10.61474224
101BCR0.60522347
102FLT30.58326159
103PRKCE0.58033389
104PDK20.56987125
105EIF2AK10.56847829
106EPHB20.56457912
107MAP3K30.55082517
108CAMK2B0.54141367
109CDK120.52008224
110LATS20.49687171
111TAOK10.48686969
112CAMK40.48422889
113PLK30.48261196
114PTK60.47744202
115SIK20.46621171
116UHMK10.46191540
117MAP2K30.45907269
118RET0.45358507
119STK380.44320842
120AKT20.43231454
121ADRBK20.43072799
122CAMK10.42983370
123WNK30.40391277
124DMPK0.38624244
125MARK20.38462325
126CDK70.37869136
127FES0.36710471
128MAP2K20.35026228
129PDK10.34658167
130PRKD10.34118721
131MAP3K10.33979752
132SGK10.33894985
133FGFR40.33569540
134BUB10.29688998
135PDPK10.29642410
136TAOK20.29004865
137CAMK2G0.28170493
138PRKCZ0.27423132
139MAP3K110.27376584
140ROCK10.26647514
141ROCK20.25715064
142RAF10.25474374
143CSNK1G20.24186273
144PHKG20.24104412
145PHKG10.24104412
146CDK80.23543703
147ALK0.22965160
148PRKCB0.22171429
149MAP2K60.21380925
150MAP3K20.21089120

Predicted pathways (KEGG)

RankGene SetZ-score
1* Synaptic vesicle cycle_Homo sapiens_hsa047215.21652595
2Collecting duct acid secretion_Homo sapiens_hsa049663.99775038
3Nicotine addiction_Homo sapiens_hsa050333.40483936
4Vibrio cholerae infection_Homo sapiens_hsa051102.81043754
5Olfactory transduction_Homo sapiens_hsa047402.77605456
6Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.70784693
7GABAergic synapse_Homo sapiens_hsa047272.37052613
8Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.30291736
9Circadian entrainment_Homo sapiens_hsa047132.25966133
10Morphine addiction_Homo sapiens_hsa050322.18931290
11Pentose phosphate pathway_Homo sapiens_hsa000302.10154958
12Amphetamine addiction_Homo sapiens_hsa050312.08277045
13Long-term potentiation_Homo sapiens_hsa047202.05851813
14Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.00735900
15Dopaminergic synapse_Homo sapiens_hsa047281.99517959
16Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.96970861
17Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.93148627
18Central carbon metabolism in cancer_Homo sapiens_hsa052301.83085949
19Insulin secretion_Homo sapiens_hsa049111.74979543
20Glutamatergic synapse_Homo sapiens_hsa047241.72706381
212-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.71223636
22Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.70610231
23Glycosaminoglycan degradation_Homo sapiens_hsa005311.68333078
24Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.66776332
25* Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.65574216
26Other glycan degradation_Homo sapiens_hsa005111.53582174
27Taste transduction_Homo sapiens_hsa047421.49447998
28Phagosome_Homo sapiens_hsa041451.48229860
29Cholinergic synapse_Homo sapiens_hsa047251.48077296
30Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.47265316
31Bladder cancer_Homo sapiens_hsa052191.45983910
32Focal adhesion_Homo sapiens_hsa045101.43399075
33ECM-receptor interaction_Homo sapiens_hsa045121.38198322
34Salivary secretion_Homo sapiens_hsa049701.36532291
35Rheumatoid arthritis_Homo sapiens_hsa053231.30697454
36Chronic myeloid leukemia_Homo sapiens_hsa052201.29961146
37Gastric acid secretion_Homo sapiens_hsa049711.27511022
38Cocaine addiction_Homo sapiens_hsa050301.25059695
39Aldosterone synthesis and secretion_Homo sapiens_hsa049251.22805187
40Serotonergic synapse_Homo sapiens_hsa047261.22716173
41Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.21134784
42Long-term depression_Homo sapiens_hsa047301.18154353
43Thyroid cancer_Homo sapiens_hsa052161.17576035
44SNARE interactions in vesicular transport_Homo sapiens_hsa041301.16148500
45Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.15563610
46Oxytocin signaling pathway_Homo sapiens_hsa049211.15381402
47Vitamin B6 metabolism_Homo sapiens_hsa007501.14026381
48Proteoglycans in cancer_Homo sapiens_hsa052051.10225872
49Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.09617848
50Regulation of actin cytoskeleton_Homo sapiens_hsa048101.09298002
51Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.08816943
52Renin secretion_Homo sapiens_hsa049241.08733993
53Calcium signaling pathway_Homo sapiens_hsa040201.08422534
54Gap junction_Homo sapiens_hsa045401.07211724
55VEGF signaling pathway_Homo sapiens_hsa043701.05382473
56Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.02257373
57N-Glycan biosynthesis_Homo sapiens_hsa005100.99121398
58Fatty acid elongation_Homo sapiens_hsa000620.95454924
59Glioma_Homo sapiens_hsa052140.95207840
60Pancreatic cancer_Homo sapiens_hsa052120.94354404
61Amoebiasis_Homo sapiens_hsa051460.93998151
62Non-small cell lung cancer_Homo sapiens_hsa052230.93967246
63Phototransduction_Homo sapiens_hsa047440.91343836
64DNA replication_Homo sapiens_hsa030300.90023040
65Oxidative phosphorylation_Homo sapiens_hsa001900.89802416
66Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.86630158
67Proteasome_Homo sapiens_hsa030500.86321367
68Type I diabetes mellitus_Homo sapiens_hsa049400.85583858
69Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.85514378
70Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.85407486
71ErbB signaling pathway_Homo sapiens_hsa040120.84128910
72Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.82755351
73Sulfur relay system_Homo sapiens_hsa041220.82364670
74Adherens junction_Homo sapiens_hsa045200.81663243
75Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.81602374
76Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.81399525
77GnRH signaling pathway_Homo sapiens_hsa049120.80842659
78Oocyte meiosis_Homo sapiens_hsa041140.80738666
79Type II diabetes mellitus_Homo sapiens_hsa049300.77860318
80Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.77276080
81Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.76744457
82Pyruvate metabolism_Homo sapiens_hsa006200.76435638
83Phospholipase D signaling pathway_Homo sapiens_hsa040720.75723027
84Leukocyte transendothelial migration_Homo sapiens_hsa046700.75637046
85Phosphatidylinositol signaling system_Homo sapiens_hsa040700.73160839
86Renal cell carcinoma_Homo sapiens_hsa052110.72004567
87cAMP signaling pathway_Homo sapiens_hsa040240.71848233
88Neurotrophin signaling pathway_Homo sapiens_hsa047220.69173441
89AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.69068834
90Acute myeloid leukemia_Homo sapiens_hsa052210.69062216
91Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.68818686
92Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.68579366
93Sphingolipid signaling pathway_Homo sapiens_hsa040710.68514906
94Regulation of autophagy_Homo sapiens_hsa041400.66928241
95Fructose and mannose metabolism_Homo sapiens_hsa000510.66902311
96Axon guidance_Homo sapiens_hsa043600.66178535
97Estrogen signaling pathway_Homo sapiens_hsa049150.65901765
98Hippo signaling pathway_Homo sapiens_hsa043900.63898620
99Small cell lung cancer_Homo sapiens_hsa052220.63511199
100Base excision repair_Homo sapiens_hsa034100.63346061
101Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.63179149
102AMPK signaling pathway_Homo sapiens_hsa041520.59947736
103Lysosome_Homo sapiens_hsa041420.59679087
104Biosynthesis of amino acids_Homo sapiens_hsa012300.59197434
105Apoptosis_Homo sapiens_hsa042100.56727787
106Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.56502557
107Endometrial cancer_Homo sapiens_hsa052130.56389536
108Carbon metabolism_Homo sapiens_hsa012000.55828884
109Tight junction_Homo sapiens_hsa045300.55153461
110cGMP-PKG signaling pathway_Homo sapiens_hsa040220.53854701
111* Endocytosis_Homo sapiens_hsa041440.52880186
112Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.52187661
113Inositol phosphate metabolism_Homo sapiens_hsa005620.52097251
114Parkinsons disease_Homo sapiens_hsa050120.51253894
115Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.50504281
116Melanogenesis_Homo sapiens_hsa049160.47540089
117MAPK signaling pathway_Homo sapiens_hsa040100.47335070
118Notch signaling pathway_Homo sapiens_hsa043300.46361786
119MicroRNAs in cancer_Homo sapiens_hsa052060.45637532
120Dilated cardiomyopathy_Homo sapiens_hsa054140.45089636
121Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.45046426
122Longevity regulating pathway - mammal_Homo sapiens_hsa042110.44981693
123Insulin signaling pathway_Homo sapiens_hsa049100.43267925
124Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.41230583
125Cardiac muscle contraction_Homo sapiens_hsa042600.39882932
126Glucagon signaling pathway_Homo sapiens_hsa049220.39025581
127Vascular smooth muscle contraction_Homo sapiens_hsa042700.37493169
128Melanoma_Homo sapiens_hsa052180.37328662
129Colorectal cancer_Homo sapiens_hsa052100.37168975
130Alzheimers disease_Homo sapiens_hsa050100.36255141
131Alcoholism_Homo sapiens_hsa050340.36015290
132Shigellosis_Homo sapiens_hsa051310.35887007
133Rap1 signaling pathway_Homo sapiens_hsa040150.35731758
134Tuberculosis_Homo sapiens_hsa051520.35640494
135Salmonella infection_Homo sapiens_hsa051320.35405685
136Ras signaling pathway_Homo sapiens_hsa040140.32035122
137Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.30894014
138Thyroid hormone synthesis_Homo sapiens_hsa049180.30146052
139Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.29835666
140mTOR signaling pathway_Homo sapiens_hsa041500.29065287
141Circadian rhythm_Homo sapiens_hsa047100.28080957
142HIF-1 signaling pathway_Homo sapiens_hsa040660.26781964
143Thyroid hormone signaling pathway_Homo sapiens_hsa049190.26681162
144Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.25344958
145Galactose metabolism_Homo sapiens_hsa000520.25051842
146Prion diseases_Homo sapiens_hsa050200.25005972

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