ARPC1A

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 one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1B. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. Alternatively spliced 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
1axon ensheathment in central nervous system (GO:0032291)8.36587233
2central nervous system myelination (GO:0022010)8.36587233
3fatty acid elongation (GO:0030497)6.39763721
4ensheathment of neurons (GO:0007272)5.69325029
5axon ensheathment (GO:0008366)5.69325029
6myelination (GO:0042552)5.69294407
7long-chain fatty acid biosynthetic process (GO:0042759)5.55167544
8negative regulation of neurotransmitter secretion (GO:0046929)4.59174035
9presynaptic membrane assembly (GO:0097105)4.45466375
10presynaptic membrane organization (GO:0097090)4.38295606
11negative regulation of neurotransmitter transport (GO:0051589)4.36473197
12establishment of integrated proviral latency (GO:0075713)4.25014031
13protein maturation by protein folding (GO:0022417)4.23888636
14cholesterol biosynthetic process (GO:0006695)4.22540909
15substantia nigra development (GO:0021762)4.21578038
16oligodendrocyte differentiation (GO:0048709)4.16928555
17neuron cell-cell adhesion (GO:0007158)4.14509644
18proteasome assembly (GO:0043248)4.14414438
19COPI coating of Golgi vesicle (GO:0048205)4.09749268
20Golgi transport vesicle coating (GO:0048200)4.09749268
21glycerophospholipid catabolic process (GO:0046475)3.99520541
22apical protein localization (GO:0045176)3.94932576
23establishment of mitochondrion localization (GO:0051654)3.93866051
24regulation of collateral sprouting (GO:0048670)3.90416231
25transmission of nerve impulse (GO:0019226)3.81830296
26sterol biosynthetic process (GO:0016126)3.70029656
27establishment of viral latency (GO:0019043)3.64455509
28response to redox state (GO:0051775)3.62093146
29mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.61806509
30neuronal action potential propagation (GO:0019227)3.55955005
31adhesion of symbiont to host cell (GO:0044650)3.52870905
32virion attachment to host cell (GO:0019062)3.52870905
33negative regulation of peptidyl-threonine phosphorylation (GO:0010801)3.48836154
34asymmetric protein localization (GO:0008105)3.48589932
35nucleobase-containing small molecule interconversion (GO:0015949)3.46857612
36chaperone-mediated protein transport (GO:0072321)3.46097392
37mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.44866081
38ribosomal large subunit biogenesis (GO:0042273)3.43797158
39peptidyl-tyrosine autophosphorylation (GO:0038083)3.42428474
40negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.38078582
41energy coupled proton transport, down electrochemical gradient (GO:0015985)3.35534887
42ATP synthesis coupled proton transport (GO:0015986)3.35534887
43negative regulation of protein localization to cell surface (GO:2000009)3.35465926
44isoprenoid biosynthetic process (GO:0008299)3.34440407
45ribosomal small subunit biogenesis (GO:0042274)3.33095588
46cellular response to epinephrine stimulus (GO:0071872)3.32037939
47positive regulation of action potential (GO:0045760)3.31829032
48formation of translation preinitiation complex (GO:0001731)3.31482348
49myelin maintenance (GO:0043217)3.29605427
50astrocyte development (GO:0014002)3.29433030
51protein neddylation (GO:0045116)3.29208405
52negative regulation of ligase activity (GO:0051352)3.24693615
53negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.24693615
54negative regulation of axonogenesis (GO:0050771)3.24221284
55positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.23822813
56regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.22482868
57regulation of cellular amino acid metabolic process (GO:0006521)3.21713454
58anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.21271907
59photoreceptor cell differentiation (GO:0046530)3.17016299
60eye photoreceptor cell differentiation (GO:0001754)3.17016299
61long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)3.13242719
62neuronal ion channel clustering (GO:0045161)3.12301034
63long-chain fatty-acyl-CoA metabolic process (GO:0035336)3.08272109
64mitotic nuclear envelope reassembly (GO:0007084)3.06867458
65nuclear envelope reassembly (GO:0031468)3.06867458
66regulation of catecholamine metabolic process (GO:0042069)3.06291769
67regulation of dopamine metabolic process (GO:0042053)3.06291769
68proline biosynthetic process (GO:0006561)3.05565336
69adult walking behavior (GO:0007628)3.03751524
70cullin deneddylation (GO:0010388)3.02574085
71neuron recognition (GO:0008038)2.98926765
72ribosome assembly (GO:0042255)2.98688505
73response to epinephrine (GO:0071871)2.98614603
74regulation of mitochondrial translation (GO:0070129)2.97876869
75positive regulation of oligodendrocyte differentiation (GO:0048714)2.97562636
76creatine metabolic process (GO:0006600)2.95647985
77protein palmitoylation (GO:0018345)2.94921310
78negative regulation of axon extension (GO:0030517)2.93534790
79establishment of protein localization to mitochondrial membrane (GO:0090151)2.92533094
80response to methylmercury (GO:0051597)2.92073562
81neural nucleus development (GO:0048857)2.91674658
82protein retention in ER lumen (GO:0006621)2.88310082
83peripheral nervous system axon ensheathment (GO:0032292)2.88189648
84myelination in peripheral nervous system (GO:0022011)2.88189648
85ribosomal small subunit assembly (GO:0000028)2.88081515
86protein targeting to mitochondrion (GO:0006626)2.86719289
87positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.85472889
88respiratory electron transport chain (GO:0022904)2.85430060
89synaptic vesicle exocytosis (GO:0016079)2.85168295
90maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.82637959
91negative regulation of JUN kinase activity (GO:0043508)2.81498561
92protein deneddylation (GO:0000338)2.79829318
93cellular response to catecholamine stimulus (GO:0071870)2.79157880
94cellular response to monoamine stimulus (GO:0071868)2.79157880
95electron transport chain (GO:0022900)2.78783644
96SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.78363902
97gamma-aminobutyric acid signaling pathway (GO:0007214)2.77876186
98L-amino acid import (GO:0043092)2.76379618
99cerebral cortex radially oriented cell migration (GO:0021799)2.75985293
100cotranslational protein targeting to membrane (GO:0006613)2.75650655
101DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.75596805
102peripheral nervous system development (GO:0007422)2.75536743
103protein localization to synapse (GO:0035418)2.74225975
104peptidyl-cysteine modification (GO:0018198)2.73808827
105intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.72603139
106signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.72603139
107cerebellar granule cell differentiation (GO:0021707)2.72568644
108positive regulation of ligase activity (GO:0051351)2.71419743
109protein targeting to ER (GO:0045047)2.71087205
110mitochondrial fragmentation involved in apoptotic process (GO:0043653)2.70964730
111neuron remodeling (GO:0016322)2.70584875
112dopamine biosynthetic process (GO:0042416)2.69729305
113tricarboxylic acid cycle (GO:0006099)2.69275289
114signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.68985300
115signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.68985300
116signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.68985300
117magnesium ion transport (GO:0015693)2.68774596
118regulation of ubiquitin-protein transferase activity (GO:0051438)2.68767179
119nucleotide transmembrane transport (GO:1901679)2.68380617
120ventricular cardiac muscle cell development (GO:0055015)2.68305827
121ribonucleoprotein complex biogenesis (GO:0022613)2.68280541
122signal transduction involved in DNA damage checkpoint (GO:0072422)2.67228360
123signal transduction involved in DNA integrity checkpoint (GO:0072401)2.67228360
124L-serine metabolic process (GO:0006563)2.66572533
125protein localization to endoplasmic reticulum (GO:0070972)2.64658166
126signal transduction involved in cell cycle checkpoint (GO:0072395)2.63998360
127mitotic metaphase plate congression (GO:0007080)2.63574845
128translation (GO:0006412)2.62952279
129establishment of protein localization to endoplasmic reticulum (GO:0072599)2.62193000
130protein heterotetramerization (GO:0051290)2.61375105
131response to monoamine (GO:0071867)2.61041942
132response to catecholamine (GO:0071869)2.61041942
133fatty-acyl-CoA biosynthetic process (GO:0046949)2.60782206
134negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)2.60480028
135membrane assembly (GO:0071709)2.60349811
136establishment of protein localization to mitochondrion (GO:0072655)2.59723524
137protein localization to mitochondrion (GO:0070585)2.59285081
138fatty-acyl-CoA metabolic process (GO:0035337)2.58298063
139GPI anchor biosynthetic process (GO:0006506)2.57697302
140regulation of ligase activity (GO:0051340)2.57596078
141desmosome organization (GO:0002934)2.57492626
142regulation of glutamate secretion (GO:0014048)2.56571269
143negative regulation of synaptic transmission, GABAergic (GO:0032229)2.56138715
144negative regulation of execution phase of apoptosis (GO:1900118)2.55794878
145adhesion of symbiont to host (GO:0044406)2.55144042
146de novo protein folding (GO:0006458)2.54831645
147viral transcription (GO:0019083)2.52179002
148positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.51715086
149de novo posttranslational protein folding (GO:0051084)2.49983559
150neuron-neuron synaptic transmission (GO:0007270)2.49981996
151regulation of synaptic vesicle exocytosis (GO:2000300)2.49270721
152dendritic spine morphogenesis (GO:0060997)2.48656950
153neurotransmitter catabolic process (GO:0042135)2.48335750
154translational termination (GO:0006415)2.47904250
155guanosine-containing compound biosynthetic process (GO:1901070)2.47333598
156nucleotide-sugar biosynthetic process (GO:0009226)2.47171016
157amyloid precursor protein metabolic process (GO:0042982)2.47157179
158tRNA aminoacylation for protein translation (GO:0006418)2.46256602
159axon development (GO:0061564)2.46182860
160response to hepatocyte growth factor (GO:0035728)2.45648416
161cellular response to hepatocyte growth factor stimulus (GO:0035729)2.45648416
162regulation of feeding behavior (GO:0060259)2.45382422
163translational initiation (GO:0006413)2.45338410
164ionotropic glutamate receptor signaling pathway (GO:0035235)2.44255529
165axonal fasciculation (GO:0007413)2.43745197
166synaptic transmission, dopaminergic (GO:0001963)2.43390619
167regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.41583302
168GDP-mannose metabolic process (GO:0019673)2.40185506
169retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.40125298
170amino acid activation (GO:0043038)2.39189591
171tRNA aminoacylation (GO:0043039)2.39189591
172maturation of SSU-rRNA (GO:0030490)2.38481162
173pteridine-containing compound biosynthetic process (GO:0042559)2.37898126
174transcription elongation from RNA polymerase III promoter (GO:0006385)2.37531059
175termination of RNA polymerase III transcription (GO:0006386)2.37531059
176regulation of cellular amine metabolic process (GO:0033238)2.37301855
1777-methylguanosine mRNA capping (GO:0006370)2.35206904
178cellular component biogenesis (GO:0044085)2.34826210
179membrane budding (GO:0006900)2.33760926
180translational elongation (GO:0006414)2.32968825
181viral life cycle (GO:0019058)2.31467373
182telomere maintenance via semi-conservative replication (GO:0032201)2.29681317
183regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.29503988
184pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)2.29035121
185regulation of mitotic spindle organization (GO:0060236)2.27674312
186DNA strand elongation involved in DNA replication (GO:0006271)2.27185493
187deoxyribonucleotide biosynthetic process (GO:0009263)2.26492733
188RNA capping (GO:0036260)2.26245374
1897-methylguanosine RNA capping (GO:0009452)2.26245374
190DNA strand elongation (GO:0022616)2.25410452
191metaphase plate congression (GO:0051310)2.25280330
192ribosome biogenesis (GO:0042254)2.24654662
193protein complex localization (GO:0031503)2.23042412

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GBX2_23144817_ChIP-Seq_PC3_Human3.79519637
2MYC_18555785_ChIP-Seq_MESCs_Mouse3.68741554
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.62721130
4EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.56232507
5EZH2_22144423_ChIP-Seq_EOC_Human3.45365235
6HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.39905399
7TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.22956325
8JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.08185723
9GABP_17652178_ChIP-ChIP_JURKAT_Human3.07981638
10E2F7_22180533_ChIP-Seq_HELA_Human2.96764516
11CREB1_15753290_ChIP-ChIP_HEK293T_Human2.87119484
12SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.75293985
13NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.74300677
14TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.68971875
15MYC_18358816_ChIP-ChIP_MESCs_Mouse2.67766011
16SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.63349429
17JARID2_20064375_ChIP-Seq_MESCs_Mouse2.61965288
18TAF15_26573619_Chip-Seq_HEK293_Human2.61288388
19FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.57549912
20SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.57244933
21AR_21909140_ChIP-Seq_LNCAP_Human2.57023098
22ETS1_20019798_ChIP-Seq_JURKAT_Human2.51602611
23MYC_19079543_ChIP-ChIP_MESCs_Mouse2.51544795
24EZH2_27304074_Chip-Seq_ESCs_Mouse2.48916718
25E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.46115970
26EST1_17652178_ChIP-ChIP_JURKAT_Human2.45045318
27MYC_19030024_ChIP-ChIP_MESCs_Mouse2.41105002
28THAP11_20581084_ChIP-Seq_MESCs_Mouse2.40358471
29E2F1_18555785_ChIP-Seq_MESCs_Mouse2.34015139
30SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse2.32879557
31DCP1A_22483619_ChIP-Seq_HELA_Human2.31989004
32NELFA_20434984_ChIP-Seq_ESCs_Mouse2.29969881
33CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.27674719
34SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.27338968
35MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.25388329
36FOXM1_23109430_ChIP-Seq_U2OS_Human2.22046316
37EZH2_18974828_ChIP-Seq_MESCs_Mouse2.21401706
38RNF2_18974828_ChIP-Seq_MESCs_Mouse2.21401706
39VDR_22108803_ChIP-Seq_LS180_Human2.19878323
40MTF2_20144788_ChIP-Seq_MESCs_Mouse2.18771081
41* XRN2_22483619_ChIP-Seq_HELA_Human2.17142195
42ZNF263_19887448_ChIP-Seq_K562_Human2.16734379
43JARID2_20075857_ChIP-Seq_MESCs_Mouse2.16582903
44EED_16625203_ChIP-ChIP_MESCs_Mouse2.15200555
45SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.14567772
46SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.13287135
47TP63_17297297_ChIP-ChIP_HaCaT_Human2.09063522
48SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.08976039
49TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.08101362
50EZH2_27294783_Chip-Seq_ESCs_Mouse2.07303795
51SUZ12_27294783_Chip-Seq_ESCs_Mouse2.05571641
52SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.05070033
53ZFP57_27257070_Chip-Seq_ESCs_Mouse2.02650073
54* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.97790816
55CTBP1_25329375_ChIP-Seq_LNCAP_Human1.88691465
56OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.87371577
57BMI1_23680149_ChIP-Seq_NPCS_Mouse1.87045471
58GABP_19822575_ChIP-Seq_HepG2_Human1.86666304
59* REST_21632747_ChIP-Seq_MESCs_Mouse1.84068853
60POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.83949509
61TTF2_22483619_ChIP-Seq_HELA_Human1.80398117
62RNF2_27304074_Chip-Seq_ESCs_Mouse1.78702009
63CTBP2_25329375_ChIP-Seq_LNCAP_Human1.76097537
64PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.75142606
65CBX2_27304074_Chip-Seq_ESCs_Mouse1.74501491
66* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.73405396
67PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.71363543
68CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.71096080
69ELK1_19687146_ChIP-ChIP_HELA_Human1.70669467
70PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.68637616
71NANOG_18555785_ChIP-Seq_MESCs_Mouse1.67869233
72POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.64947177
73POU3F2_20337985_ChIP-ChIP_501MEL_Human1.64078243
74ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.63918477
75* DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.61933857
76NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.61854182
77HIF1A_21447827_ChIP-Seq_MCF-7_Human1.61689589
78PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.60986831
79TRIM28_21343339_ChIP-Seq_HEK293_Human1.59567479
80RARB_27405468_Chip-Seq_BRAIN_Mouse1.59105695
81* PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.59015156
82* REST_18959480_ChIP-ChIP_MESCs_Mouse1.55159467
83ELF1_17652178_ChIP-ChIP_JURKAT_Human1.54818556
84* ER_23166858_ChIP-Seq_MCF-7_Human1.54045024
85DROSHA_22980978_ChIP-Seq_HELA_Human1.54044138
86FUS_26573619_Chip-Seq_HEK293_Human1.52625116
87E2F4_17652178_ChIP-ChIP_JURKAT_Human1.51082692
88KLF4_18555785_ChIP-Seq_MESCs_Mouse1.49753641
89SRF_21415370_ChIP-Seq_HL-1_Mouse1.49525783
90SMAD3_21741376_ChIP-Seq_EPCs_Human1.48290555
91ESR1_15608294_ChIP-ChIP_MCF-7_Human1.48256236
92RARG_19884340_ChIP-ChIP_MEFs_Mouse1.48120429
93RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.46472933
94P300_19829295_ChIP-Seq_ESCs_Human1.43684618
95* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.41819279
96ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.39328419
97PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.39226489
98AR_21572438_ChIP-Seq_LNCaP_Human1.37577879
99CLOCK_20551151_ChIP-Seq_293T_Human1.37518903
100SOX17_20123909_ChIP-Seq_XEN_Mouse1.37144622
101RNF2_27304074_Chip-Seq_NSC_Mouse1.36890716
102CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.36099141
103KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.36008816
104ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.35883740
105YY1_21170310_ChIP-Seq_MESCs_Mouse1.34716934
106NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.34300703
107ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.33009491
108MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.31278496
109HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.31165289
110WT1_19549856_ChIP-ChIP_CCG9911_Human1.31111936
111TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.29560936
112SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.29216881
113VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.27553908
114YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.26003820
115PIAS1_25552417_ChIP-Seq_VCAP_Human1.25979617
116ELK1_22589737_ChIP-Seq_MCF10A_Human1.25527512
117TOP2B_26459242_ChIP-Seq_MCF-7_Human1.25135990
118ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.24236051
119GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.23376637
120STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.22706817
121HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.22486890
122* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.22063292
123TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.21371852
124CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.19853055
125CDX2_19796622_ChIP-Seq_MESCs_Mouse1.18658761
126FOXP3_21729870_ChIP-Seq_TREG_Human1.18592741
127SMAD4_21799915_ChIP-Seq_A2780_Human1.17948862
128STAT3_1855785_ChIP-Seq_MESCs_Mouse1.16307759
129TBX5_21415370_ChIP-Seq_HL-1_Mouse1.15829505
130E2F1_21310950_ChIP-Seq_MCF-7_Human1.15093499
131POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.12487267
132CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.12258364
133SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.12181975
134PADI4_21655091_ChIP-ChIP_MCF-7_Human1.12084451
135* TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.12075346
136KDM5A_27292631_Chip-Seq_BREAST_Human1.10585912
137ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.10353653
138ATF3_27146783_Chip-Seq_COLON_Human1.09789660
139GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.08557750
140P53_22127205_ChIP-Seq_FIBROBLAST_Human1.08351460
141ZNF274_21170338_ChIP-Seq_K562_Hela1.07978398
142SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.07507797
143TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.06500620
144KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.06207925
145UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.06145113
146SOX2_18692474_ChIP-Seq_MEFs_Mouse1.05307126
147EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.05291426
148DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.05109665
149NR3C1_23031785_ChIP-Seq_PC12_Mouse1.04991147
150HOXB4_20404135_ChIP-ChIP_EML_Mouse1.04873600
151CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.04504559
152SOX2_18555785_ChIP-Seq_MESCs_Mouse1.04474819
153TRIM28_19339689_ChIP-ChIP_MESCs_Mouse1.03640930
154OCT4_18692474_ChIP-Seq_MEFs_Mouse1.03575211
155* TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse1.03137155
156ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.02294660
157CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.01831767
158GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.01518282
159VDR_23849224_ChIP-Seq_CD4+_Human1.01505981
160STAT3_23295773_ChIP-Seq_U87_Human1.01144873
161TAL1_26923725_Chip-Seq_HPCs_Mouse1.00687479
162CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.99874530
163SOX9_26525672_Chip-Seq_Limbbuds_Mouse0.99551905
164PRDM14_20953172_ChIP-Seq_ESCs_Human0.99295456
165TFEB_21752829_ChIP-Seq_HELA_Human0.99055573
166NANOG_18555785_Chip-Seq_ESCs_Mouse0.98740058
167KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.97656485
168EOMES_21245162_ChIP-Seq_HESCs_Human0.97212893
169NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.97101679
170RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.96994715
171MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.95942478
172SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.95561986
173PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.95291028
174CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.95189284
175ERG_21242973_ChIP-ChIP_JURKAT_Human0.94677915
176CMYC_18555785_Chip-Seq_ESCs_Mouse0.94546747
177JUN_21703547_ChIP-Seq_K562_Human0.93548044
178TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.93355476
179* TCF4_23295773_ChIP-Seq_U87_Human0.92979402
180FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.92855021
181HTT_18923047_ChIP-ChIP_STHdh_Human0.92288517
182RING1B_27294783_Chip-Seq_ESCs_Mouse0.92262178
183RUNX2_22187159_ChIP-Seq_PCA_Human0.92088893
184CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.91763838
185MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.91724810
186MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.91160231
187SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.90026286
188IKZF1_21737484_ChIP-ChIP_HCT116_Human0.89647430
189OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.89375400
190EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.89004212
191KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.88592517
192SOX9_26525672_Chip-Seq_HEART_Mouse0.87644085
193AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.86832057
194* SOX2_21211035_ChIP-Seq_LN229_Gbm0.86121725
195P300_18555785_Chip-Seq_ESCs_Mouse0.85045289
196SUZ12_18555785_Chip-Seq_ESCs_Mouse0.84952723
197RING1B_27294783_Chip-Seq_NPCs_Mouse0.84547989
198LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.84454936

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern4.98039121
2MP0000920_abnormal_myelination3.95632979
3MP0004270_analgesia3.85101536
4MP0004859_abnormal_synaptic_plasticity3.28813199
5MP0001529_abnormal_vocalization3.19706666
6MP0002272_abnormal_nervous_system2.78955424
7MP0010030_abnormal_orbit_morphology2.74715284
8MP0001905_abnormal_dopamine_level2.72917304
9MP0004272_abnormal_basement_membrane2.68948951
10MP0002064_seizures2.62884464
11MP0003635_abnormal_synaptic_transmissio2.58619381
12MP0004957_abnormal_blastocyst_morpholog2.50862550
13MP0009745_abnormal_behavioral_response2.49473371
14MP0003941_abnormal_skin_development2.48392232
15MP0009379_abnormal_foot_pigmentation2.42160454
16MP0008438_abnormal_cutaneous_collagen2.41525797
17MP0003329_amyloid_beta_deposits2.40762151
18MP0001486_abnormal_startle_reflex2.39405391
19MP0002734_abnormal_mechanical_nocicepti2.38405429
20MP0000778_abnormal_nervous_system2.27938038
21MP0003705_abnormal_hypodermis_morpholog2.25737950
22MP0009046_muscle_twitch2.24692336
23MP0004742_abnormal_vestibular_system2.22361007
24MP0010234_abnormal_vibrissa_follicle2.19523358
25MP0008932_abnormal_embryonic_tissue2.15375179
26MP0003806_abnormal_nucleotide_metabolis2.14858772
27MP0005257_abnormal_intraocular_pressure2.12530789
28MP0003693_abnormal_embryo_hatching2.10928163
29MP0004142_abnormal_muscle_tone2.09397776
30MP0002063_abnormal_learning/memory/cond2.04989482
31MP0002572_abnormal_emotion/affect_behav2.04254469
32MP0002877_abnormal_melanocyte_morpholog2.03847511
33MP0003690_abnormal_glial_cell2.01784349
34MP0001968_abnormal_touch/_nociception2.01372666
35MP0003186_abnormal_redox_activity1.98404286
36MP0004885_abnormal_endolymph1.97740201
37MP0005171_absent_coat_pigmentation1.96081453
38MP0001440_abnormal_grooming_behavior1.94979898
39MP0003634_abnormal_glial_cell1.93585780
40MP0003566_abnormal_cell_adhesion1.89533361
41MP0005423_abnormal_somatic_nervous1.87098369
42MP0005408_hypopigmentation1.83947370
43MP0001485_abnormal_pinna_reflex1.81462242
44MP0002736_abnormal_nociception_after1.81457723
45MP0009053_abnormal_anal_canal1.80113885
46MP0002735_abnormal_chemical_nociception1.77096990
47MP0000537_abnormal_urethra_morphology1.75433597
48MP0005409_darkened_coat_color1.74342972
49MP0003950_abnormal_plasma_membrane1.72842556
50MP0002733_abnormal_thermal_nociception1.72455891
51MP0001970_abnormal_pain_threshold1.72125337
52MP0005501_abnormal_skin_physiology1.71037938
53MP0006276_abnormal_autonomic_nervous1.68604430
54MP0010368_abnormal_lymphatic_system1.67160789
55MP0002796_impaired_skin_barrier1.65910234
56MP0002229_neurodegeneration1.65138472
57MP0003136_yellow_coat_color1.62292160
58MP0000955_abnormal_spinal_cord1.60700298
59MP0003077_abnormal_cell_cycle1.59289013
60MP0000762_abnormal_tongue_morphology1.58072372
61MP0002067_abnormal_sensory_capabilities1.57276225
62MP0008058_abnormal_DNA_repair1.55497034
63MP0002938_white_spotting1.55313823
64MP0003123_paternal_imprinting1.53255435
65MP0002882_abnormal_neuron_morphology1.53243716
66MP0003315_abnormal_perineum_morphology1.53022574
67MP0003111_abnormal_nucleus_morphology1.52084903
68MP0010094_abnormal_chromosome_stability1.48868503
69MP0005410_abnormal_fertilization1.48419001
70MP0005386_behavior/neurological_phenoty1.45665552
71MP0004924_abnormal_behavior1.45665552
72MP0003632_abnormal_nervous_system1.43336225
73MP0000467_abnormal_esophagus_morphology1.42908446
74MP0004233_abnormal_muscle_weight1.41549625
75MP0002066_abnormal_motor_capabilities/c1.40221167
76MP0000462_abnormal_digestive_system1.38714773
77MP0002184_abnormal_innervation1.37722314
78MP0005551_abnormal_eye_electrophysiolog1.33493469
79MP0008007_abnormal_cellular_replicative1.32650216
80MP0009697_abnormal_copulation1.32477113
81MP0002060_abnormal_skin_morphology1.29599640
82MP0001501_abnormal_sleep_pattern1.29240379
83MP0000358_abnormal_cell_content/1.28152406
84MP0000579_abnormal_nail_morphology1.24396185
85MP0003718_maternal_effect1.24146754
86MP0005645_abnormal_hypothalamus_physiol1.23776505
87MP0010352_gastrointestinal_tract_polyps1.22989444
88MP0002752_abnormal_somatic_nervous1.21596567
89MP0001963_abnormal_hearing_physiology1.21472840
90MP0001730_embryonic_growth_arrest1.20494967
91MP0002822_catalepsy1.20449233
92MP0000647_abnormal_sebaceous_gland1.19681902
93MP0004147_increased_porphyrin_level1.17859170
94MP0008569_lethality_at_weaning1.15004209
95MP0000534_abnormal_ureter_morphology1.14359577
96MP0002697_abnormal_eye_size1.13665529
97MP0002557_abnormal_social/conspecific_i1.13542639
98MP0004043_abnormal_pH_regulation1.12369519
99MP0006054_spinal_hemorrhage1.12080609
100MP0003631_nervous_system_phenotype1.10577018
101MP0003385_abnormal_body_wall1.10314223
102MP0001849_ear_inflammation1.09524845
103MP0001984_abnormal_olfaction1.08172219
104MP0006072_abnormal_retinal_apoptosis1.06462005
105MP0000604_amyloidosis1.05760934
106MP0003786_premature_aging1.05518755
107MP0003937_abnormal_limbs/digits/tail_de1.05211648
108MP0002085_abnormal_embryonic_tissue1.04502847
109MP0010771_integument_phenotype1.01903046
110MP0010386_abnormal_urinary_bladder1.01350870
111MP0005451_abnormal_body_composition1.00762794
112MP0000350_abnormal_cell_proliferation1.00515929
113MP0001502_abnormal_circadian_rhythm1.00036469
114MP0008260_abnormal_autophagy0.99412481
115MP0004858_abnormal_nervous_system0.99134399
116MP0002152_abnormal_brain_morphology0.98945164
117MP0004811_abnormal_neuron_physiology0.98940925
118MP0003122_maternal_imprinting0.98741917
119MP0003942_abnormal_urinary_system0.97882967
120MP0002233_abnormal_nose_morphology0.97003007
121MP0002080_prenatal_lethality0.96259650
122MP0002098_abnormal_vibrissa_morphology0.95398889
123MP0001661_extended_life_span0.95227972
124MP0001697_abnormal_embryo_size0.95059182
125MP0003755_abnormal_palate_morphology0.94146292
126MP0005197_abnormal_uvea_morphology0.94144520
127MP0004145_abnormal_muscle_electrophysio0.93891219
128MP0002084_abnormal_developmental_patter0.93787938
129MP0004134_abnormal_chest_morphology0.93527055
130MP0001188_hyperpigmentation0.92452841
131MP0003938_abnormal_ear_development0.92335547
132MP0000566_synostosis0.92073031
133MP0000026_abnormal_inner_ear0.91156046
134MP0009250_abnormal_appendicular_skeleto0.90515819
135MP0001672_abnormal_embryogenesis/_devel0.89979453
136MP0005380_embryogenesis_phenotype0.89979453
137MP0005646_abnormal_pituitary_gland0.89061537
138MP0003633_abnormal_nervous_system0.88709942
139MP0002177_abnormal_outer_ear0.88145674
140MP0000750_abnormal_muscle_regeneration0.87707900
141MP0005023_abnormal_wound_healing0.86693266
142MP0001216_abnormal_epidermal_layer0.86407604
143MP0002234_abnormal_pharynx_morphology0.86310285
144MP0006035_abnormal_mitochondrial_morpho0.85882258
145MP0000631_abnormal_neuroendocrine_gland0.84671538
146MP0001346_abnormal_lacrimal_gland0.84619801
147MP0008789_abnormal_olfactory_epithelium0.84312915
148MP0004381_abnormal_hair_follicle0.83617262
149MP0006036_abnormal_mitochondrial_physio0.83495168
150MP0000749_muscle_degeneration0.83016317
151MP0005379_endocrine/exocrine_gland_phen0.82871520
152MP0001986_abnormal_taste_sensitivity0.82539936
153MP0005623_abnormal_meninges_morphology0.82353026
154MP0001293_anophthalmia0.82317475
155MP0001299_abnormal_eye_distance/0.81319454
156MP0001727_abnormal_embryo_implantation0.79704493
157MP0002111_abnormal_tail_morphology0.78793117
158MP0003984_embryonic_growth_retardation0.78668516
159MP0002160_abnormal_reproductive_system0.78547494
160MP0000751_myopathy0.78435976
161MP0005195_abnormal_posterior_eye0.78087722
162MP0010678_abnormal_skin_adnexa0.77966654
163MP0005253_abnormal_eye_physiology0.77912789
164MP0000377_abnormal_hair_follicle0.77638640
165MP0001879_abnormal_lymphatic_vessel0.77315827
166MP0001881_abnormal_mammary_gland0.77196817
167MP0001664_abnormal_digestion0.76726156
168MP0005187_abnormal_penis_morphology0.76596345
169MP0002751_abnormal_autonomic_nervous0.74630505
170MP0005330_cardiomyopathy0.74272514
171MP0000003_abnormal_adipose_tissue0.72218020
172MP0002088_abnormal_embryonic_growth/wei0.72196639
173MP0003195_calcinosis0.71777873
174MP0005193_abnormal_anterior_eye0.71283126
175MP0000678_abnormal_parathyroid_gland0.71220059
176MP0003191_abnormal_cellular_cholesterol0.70977438
177MP0000049_abnormal_middle_ear0.70507058
178MP0000747_muscle_weakness0.69975244
179MP0000383_abnormal_hair_follicle0.69509170
180MP0002069_abnormal_eating/drinking_beha0.68248002
181MP0000627_abnormal_mammary_gland0.67905487
182MP0005360_urolithiasis0.67324828
183MP0000013_abnormal_adipose_tissue0.67200167
184MP0005508_abnormal_skeleton_morphology0.67057868
185MP0003453_abnormal_keratinocyte_physiol0.66535902
186MP0002090_abnormal_vision0.65876983
187MP0001177_atelectasis0.63888213
188MP0004133_heterotaxia0.62887752
189MP0009780_abnormal_chondrocyte_physiolo0.62358676
190MP0002638_abnormal_pupillary_reflex0.59808634
191MP0002837_dystrophic_cardiac_calcinosis0.59712123
192MP0002876_abnormal_thyroid_physiology0.59541066

Predicted human phenotypes

RankGene SetZ-score
1Neurofibrillary tangles (HP:0002185)5.37450664
2Degeneration of the lateral corticospinal tracts (HP:0002314)5.19469219
3Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)5.19469219
4Sensory axonal neuropathy (HP:0003390)5.14627143
5Parakeratosis (HP:0001036)4.48291016
6Cerebral inclusion bodies (HP:0100314)4.15997898
7Abnormality of the corticospinal tract (HP:0002492)4.04789656
8Congenital nonbullous ichthyosiform erythroderma (HP:0007479)3.97428532
9Peripheral hypomyelination (HP:0007182)3.78890457
10Cerebral hypomyelination (HP:0006808)3.78413610
11Increased serum pyruvate (HP:0003542)3.72023466
12Abnormality of glycolysis (HP:0004366)3.72023466
13Myokymia (HP:0002411)3.71841635
14Premature rupture of membranes (HP:0001788)3.54847742
15Supranuclear gaze palsy (HP:0000605)3.53649835
16Atonic seizures (HP:0010819)3.47872435
17Focal motor seizures (HP:0011153)3.35636455
18Acute necrotizing encephalopathy (HP:0006965)3.29962397
19Spastic gait (HP:0002064)3.21846809
20Akinesia (HP:0002304)3.21645434
21Leukodystrophy (HP:0002415)3.12609275
22Pheochromocytoma (HP:0002666)3.01227481
23Decreased activity of mitochondrial respiratory chain (HP:0008972)2.92302887
24Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.92302887
25Dysmetria (HP:0001310)2.84799900
26Congenital ichthyosiform erythroderma (HP:0007431)2.84562786
27Neuroendocrine neoplasm (HP:0100634)2.79723630
28Retinal dysplasia (HP:0007973)2.79574341
29Abnormal mitochondria in muscle tissue (HP:0008316)2.79483931
30Mitochondrial inheritance (HP:0001427)2.72901684
31Onion bulb formation (HP:0003383)2.72012187
32Short nail (HP:0001799)2.70721766
33Progressive macrocephaly (HP:0004481)2.69699901
34Insidious onset (HP:0003587)2.69459012
35Termporal pattern (HP:0011008)2.69459012
36Acute encephalopathy (HP:0006846)2.61756809
37Abnormality of the umbilical cord (HP:0010881)2.60853018
38Trismus (HP:0000211)2.58460769
39Epileptic encephalopathy (HP:0200134)2.57623223
40Intention tremor (HP:0002080)2.56995127
41Scanning speech (HP:0002168)2.55229703
42Hypokinesia (HP:0002375)2.51745720
43Autoamputation (HP:0001218)2.51095731
44Cerebral edema (HP:0002181)2.49370864
45Alacrima (HP:0000522)2.48989788
46Abnormalities of placenta or umbilical cord (HP:0001194)2.46433474
47Abnormal auditory evoked potentials (HP:0006958)2.45938774
48Spastic paraparesis (HP:0002313)2.41407442
49Sparse eyelashes (HP:0000653)2.41359540
50Renal Fanconi syndrome (HP:0001994)2.40136599
51Focal seizures (HP:0007359)2.39339240
52Thickened helices (HP:0000391)2.38479336
53Cerebral hemorrhage (HP:0001342)2.37558971
54Hypoplastic pelvis (HP:0008839)2.35974844
55Ankle clonus (HP:0011448)2.35357834
56Abnormality of the fetal cardiovascular system (HP:0010948)2.34954354
57Abnormal umbilical cord blood vessels (HP:0011403)2.34954354
58Single umbilical artery (HP:0001195)2.34954354
59Abnormality of the anterior horn cell (HP:0006802)2.34766483
60Degeneration of anterior horn cells (HP:0002398)2.34766483
61Hepatocellular necrosis (HP:0001404)2.33029903
62CNS hypomyelination (HP:0003429)2.31913641
63Vaginal atresia (HP:0000148)2.28451364
64Vertebral compression fractures (HP:0002953)2.25478844
65Protrusio acetabuli (HP:0003179)2.23652212
66Microglossia (HP:0000171)2.20556797
67Genital tract atresia (HP:0001827)2.19735453
68Split foot (HP:0001839)2.18405696
69Hyperventilation (HP:0002883)2.17207695
70Increased circulating renin level (HP:0000848)2.16558563
71Rough bone trabeculation (HP:0100670)2.16094922
72Reticulocytopenia (HP:0001896)2.15035517
73Dialeptic seizures (HP:0011146)2.12768689
74Gait imbalance (HP:0002141)2.12521448
75Increased CSF lactate (HP:0002490)2.09048300
76Abnormality of the distal phalanges of the toes (HP:0010182)2.09012521
77Hypomagnesemia (HP:0002917)2.08968268
78Aplasia/Hypoplasia of the sacrum (HP:0008517)2.08174014
79Amniotic constriction ring (HP:0009775)2.07328715
80Abnormality of placental membranes (HP:0011409)2.07328715
81Anteriorly placed anus (HP:0001545)2.04959178
82Limb dystonia (HP:0002451)2.04619563
83Generalized myoclonic seizures (HP:0002123)2.03693850
84Abnormality of dentin (HP:0010299)2.03607119
85Medial flaring of the eyebrow (HP:0010747)2.02301078
86Increased hepatocellular lipid droplets (HP:0006565)2.00258185
873-Methylglutaconic aciduria (HP:0003535)2.00212246
88Testicular atrophy (HP:0000029)1.99520603
89Microvesicular hepatic steatosis (HP:0001414)1.99233289
90Macrocytic anemia (HP:0001972)1.97900434
91Abnormality of aromatic amino acid family metabolism (HP:0004338)1.97516840
92Facial cleft (HP:0002006)1.97250951
93Absence seizures (HP:0002121)1.96789964
94Delusions (HP:0000746)1.96369558
95Decreased lacrimation (HP:0000633)1.96197980
96Poor speech (HP:0002465)1.96186150
97Cholecystitis (HP:0001082)1.94387905
98Abnormal gallbladder physiology (HP:0012438)1.94387905
99Upper limb amyotrophy (HP:0009129)1.93689003
100Distal upper limb amyotrophy (HP:0007149)1.93689003
101Slow saccadic eye movements (HP:0000514)1.93138278
102Stridor (HP:0010307)1.92513909
103Type I transferrin isoform profile (HP:0003642)1.90668935
104Hand muscle atrophy (HP:0009130)1.90348455
105Cupped ear (HP:0000378)1.86959573
106Congenital primary aphakia (HP:0007707)1.86600452
107Ankle contracture (HP:0006466)1.85332264
108Absent septum pellucidum (HP:0001331)1.84577876
109Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.84574723
110Optic disc pallor (HP:0000543)1.83916885
111Lactic acidosis (HP:0003128)1.83881920
112Lower limb muscle weakness (HP:0007340)1.83819005
113Diminished movement (HP:0002374)1.83699781
114Morphological abnormality of the inner ear (HP:0011390)1.82046593
115Clumsiness (HP:0002312)1.81345085
116Megalencephaly (HP:0001355)1.81333896
117Anxiety (HP:0000739)1.81194795
118Methylmalonic acidemia (HP:0002912)1.80418301
119Exercise intolerance (HP:0003546)1.79622695
120Partial agenesis of the corpus callosum (HP:0001338)1.79381245
121Action tremor (HP:0002345)1.79229398
122Type II lissencephaly (HP:0007260)1.78592968
123Increased serum lactate (HP:0002151)1.77967666
124Hydroureter (HP:0000072)1.77759979
125Hyperacusis (HP:0010780)1.76313061
126Abnormal trabecular bone morphology (HP:0100671)1.76232737
127Pterygium (HP:0001059)1.75838241
128Abnormality of methionine metabolism (HP:0010901)1.75640571
129Nephrogenic diabetes insipidus (HP:0009806)1.75135656
130Bowel incontinence (HP:0002607)1.74883698
131Abnormality of cells of the erythroid lineage (HP:0012130)1.74878628
132Respiratory failure (HP:0002878)1.74203345
133Hypoplasia of the capital femoral epiphysis (HP:0003090)1.73303107
134Upper limb muscle weakness (HP:0003484)1.72945624
135Reduced antithrombin III activity (HP:0001976)1.72533666
136Insomnia (HP:0100785)1.72493361
137Dynein arm defect of respiratory motile cilia (HP:0012255)1.71902516
138Absent/shortened dynein arms (HP:0200106)1.71902516
139Postnatal microcephaly (HP:0005484)1.71817548
140Segmental peripheral demyelination/remyelination (HP:0003481)1.71426415
141Overriding aorta (HP:0002623)1.71212331
142Cervical subluxation (HP:0003308)1.70734134
143Reduced subcutaneous adipose tissue (HP:0003758)1.70620856
144Broad-based gait (HP:0002136)1.70516530
145Entropion (HP:0000621)1.70109230
146Secondary amenorrhea (HP:0000869)1.69228282
147Anomalous pulmonary venous return (HP:0010772)1.69174177
148Steppage gait (HP:0003376)1.67669640
149Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.67426461
150Abnormal protein N-linked glycosylation (HP:0012347)1.67426461
151Abnormal protein glycosylation (HP:0012346)1.67426461
152Abnormal glycosylation (HP:0012345)1.67426461
153Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.67332918
154Abnormality of magnesium homeostasis (HP:0004921)1.66806274
155Generalized tonic-clonic seizures (HP:0002069)1.66728364
156Spinal cord compression (HP:0002176)1.66251351
157Hepatic necrosis (HP:0002605)1.65314655
158Redundant skin (HP:0001582)1.65088987
159Fasciculations (HP:0002380)1.64915217
160Adrenal hypoplasia (HP:0000835)1.64705564
161Progressive inability to walk (HP:0002505)1.64553124
162Lipid accumulation in hepatocytes (HP:0006561)1.64399128
163Spinal rigidity (HP:0003306)1.63847361
164Fragile nails (HP:0001808)1.63015790
165Shoulder girdle muscle weakness (HP:0003547)1.57911194
166Increased intramyocellular lipid droplets (HP:0012240)1.57738968
167Patchy hypopigmentation of hair (HP:0011365)1.56447506
168Hypoplastic left heart (HP:0004383)1.55418278
169Cardiovascular calcification (HP:0011915)1.55363631
170Abnormal number of erythroid precursors (HP:0012131)1.54819332
171Vascular calcification (HP:0004934)1.54017911
172Achilles tendon contracture (HP:0001771)1.53548088
173Gout (HP:0001997)1.52999418
174Generalized amyotrophy (HP:0003700)1.51133026
175Cortical dysplasia (HP:0002539)1.50663629
176Renal duplication (HP:0000075)1.49983526
177Selective tooth agenesis (HP:0001592)1.48567786
178Delayed gross motor development (HP:0002194)1.48337510

Predicted kinase interactions (KEA)

RankGene SetZ-score
1STK395.51673944
2OXSR14.08087831
3EPHA23.49673159
4BCR3.18719978
5BUB13.17940250
6NME23.00807004
7VRK22.95215315
8MST1R2.89995719
9TNIK2.82408615
10CDK192.76410751
11TESK12.73566911
12WNK42.70413139
13NEK12.64834946
14EIF2AK12.50126064
15EPHA42.34487206
16PAK42.28301375
17PRPF4B2.16071477
18CASK2.08689285
19UHMK12.04493833
20ARAF1.99233787
21LIMK11.99067679
22SRPK11.94196812
23EPHB11.92678069
24PKN11.86927454
25PNCK1.86365877
26MET1.76580153
27CSNK1G31.76053531
28NTRK11.72307684
29PBK1.67206748
30MYLK1.65869232
31TTK1.62410289
32PTK21.62329593
33LMTK21.59250703
34MARK11.58706611
35TRIM281.58241274
36IRAK31.56664099
37NEK61.55913180
38ILK1.55469274
39WNK11.50693811
40CAMK2B1.50577289
41NTRK31.49612662
42CSNK1A1L1.48378137
43FGR1.48297294
44EPHB21.44981365
45ICK1.41004821
46CSNK1G21.38771079
47WEE11.38675266
48PDK21.37884585
49PAK61.36952103
50MAPKAPK51.35754663
51ROCK21.34907830
52BRSK11.28815647
53MST41.26457505
54EIF2AK31.23762462
55LATS21.23297744
56CSNK1G11.23087684
57TSSK61.19893801
58CAMK2D1.13907813
59MAP3K91.13700173
60SMG11.12917893
61TYRO31.12541428
62CDK141.12380034
63CDK51.10025106
64DYRK21.09666043
65FGFR21.08379774
66PLK31.08179599
67ABL21.07982685
68PIM21.07770703
69SCYL21.07377257
70NME11.01902111
71CAMK2A0.99645051
72CDK80.99478435
73MINK10.99433537
74MAPK130.98295033
75KSR20.97105192
76RPS6KB20.95625052
77CDK180.94798932
78CDK150.94704797
79SGK2230.93613912
80SGK4940.93613912
81BMPR1B0.91912284
82CDC70.90083885
83MAPK150.89994426
84DAPK10.89750905
85PLK10.88753059
86CAMK2G0.87807491
87MAPKAPK30.86738985
88CDK11A0.86237482
89PDGFRA0.86054306
90PAK30.84993270
91IRAK20.83984274
92STK160.81522840
93GRK50.81218846
94MAP3K40.80874487
95PTK2B0.80411722
96CLK10.79023215
97MAP2K70.78985156
98AURKA0.78181670
99MAP3K120.75652717
100PLK20.75027719
101PRKCE0.74778124
102AURKB0.74327529
103CDK70.72237915
104TESK20.72233173
105TAF10.71688362
106TRIB30.71673774
107WNK30.71583399
108LRRK20.71095420
109BCKDK0.70839279
110PRKCQ0.70629952
111GRK70.70134071
112PRKCI0.69509005
113MAP3K20.67598974
114NTRK20.67501030
115FES0.64672435
116BMPR20.64170257
117MARK20.64014479
118ADRBK20.63709269
119PAK20.63481852
120VRK10.61163148
121MAP3K130.57276602
122AKT20.57191965
123MUSK0.56375982
124DAPK30.55525451
125BRAF0.55113099
126PRKCG0.54907445
127PHKG10.54343290
128PHKG20.54343290
129DYRK1A0.53888068
130PRKD30.53822027
131SIK30.53475757
132BRSK20.52765557
133FYN0.52287686
134KSR10.51522575
135DAPK20.51519676
136RIPK40.50408100
137MAP3K80.46281268
138PRKG20.45859182
139DMPK0.44494252
140CHEK20.44422860
141PDPK10.43993828
142STK40.43371131
143FER0.42911686
144IRAK10.42487361
145STK38L0.42284875
146ERBB40.41954250
147CSNK1A10.41318726
148EIF2AK20.39041792
149ERBB30.38570164
150CDK90.38195248
151PRKACA0.37165209
152MAP3K30.36550634
153PKN20.36388342
154PRKG10.36111748
155CSNK2A20.35567831
156CHEK10.35183465
157CSNK2A10.35031159
158PAK10.33270848
159ADRBK10.32589600
160STK110.29916359
161PRKACB0.29177621
162PRKD10.27613088
163ROCK10.25107864
164RAF10.23952204
165MAP2K20.23568470
166PRKCH0.22833374

Predicted pathways (KEGG)

RankGene SetZ-score
1Terpenoid backbone biosynthesis_Homo sapiens_hsa009004.54105136
2Oxidative phosphorylation_Homo sapiens_hsa001903.56347286
3Steroid biosynthesis_Homo sapiens_hsa001003.44008721
4Fatty acid elongation_Homo sapiens_hsa000623.21465191
5Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.05448399
6Ribosome_Homo sapiens_hsa030102.73836287
7Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.70207650
8Parkinsons disease_Homo sapiens_hsa050122.68025341
9Protein export_Homo sapiens_hsa030602.40294491
10Alzheimers disease_Homo sapiens_hsa050102.39954282
11Collecting duct acid secretion_Homo sapiens_hsa049662.37639555
12Ether lipid metabolism_Homo sapiens_hsa005652.28614369
13DNA replication_Homo sapiens_hsa030302.28205469
14Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.16156571
15Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.12233634
16Mismatch repair_Homo sapiens_hsa034302.08567536
17Nicotine addiction_Homo sapiens_hsa050332.03831679
182-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.00216273
19Vibrio cholerae infection_Homo sapiens_hsa051101.97994014
20Synaptic vesicle cycle_Homo sapiens_hsa047211.91892208
21Axon guidance_Homo sapiens_hsa043601.88097475
22Folate biosynthesis_Homo sapiens_hsa007901.87979871
23Serotonergic synapse_Homo sapiens_hsa047261.82130820
24GABAergic synapse_Homo sapiens_hsa047271.79701165
25Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.79060067
26Biosynthesis of amino acids_Homo sapiens_hsa012301.77873955
27Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.75310945
28Huntingtons disease_Homo sapiens_hsa050161.74757086
29Glutamatergic synapse_Homo sapiens_hsa047241.70179920
30Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.70007501
31Nucleotide excision repair_Homo sapiens_hsa034201.62590192
32Base excision repair_Homo sapiens_hsa034101.60569203
33Pyrimidine metabolism_Homo sapiens_hsa002401.57644173
34Carbon metabolism_Homo sapiens_hsa012001.56846090
35Morphine addiction_Homo sapiens_hsa050321.55647854
36Sphingolipid metabolism_Homo sapiens_hsa006001.48745467
37Sulfur metabolism_Homo sapiens_hsa009201.44305961
38Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.43618815
39Sulfur relay system_Homo sapiens_hsa041221.41227750
40Pentose phosphate pathway_Homo sapiens_hsa000301.39533580
41Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.38769252
42Circadian entrainment_Homo sapiens_hsa047131.37844103
43Cardiac muscle contraction_Homo sapiens_hsa042601.37484137
44Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.37352474
45Long-term depression_Homo sapiens_hsa047301.37262285
46Cyanoamino acid metabolism_Homo sapiens_hsa004601.35530466
47Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.28299198
48Dopaminergic synapse_Homo sapiens_hsa047281.27617460
49Galactose metabolism_Homo sapiens_hsa000521.26177881
50RNA transport_Homo sapiens_hsa030131.25476627
51Amphetamine addiction_Homo sapiens_hsa050311.23025786
52Cysteine and methionine metabolism_Homo sapiens_hsa002701.21394188
53Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.18932372
54Fructose and mannose metabolism_Homo sapiens_hsa000511.18747368
55Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.18038204
56Long-term potentiation_Homo sapiens_hsa047201.17588579
57Butanoate metabolism_Homo sapiens_hsa006501.17521361
58SNARE interactions in vesicular transport_Homo sapiens_hsa041301.15624944
59Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.15573647
60N-Glycan biosynthesis_Homo sapiens_hsa005101.15506386
61Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.13154939
62Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.12925510
63Spliceosome_Homo sapiens_hsa030401.12910397
64Cocaine addiction_Homo sapiens_hsa050301.12603633
65Taste transduction_Homo sapiens_hsa047421.11883027
66Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.10146329
67Vitamin B6 metabolism_Homo sapiens_hsa007501.07532533
68One carbon pool by folate_Homo sapiens_hsa006701.06393201
69Linoleic acid metabolism_Homo sapiens_hsa005911.05716720
70Salivary secretion_Homo sapiens_hsa049701.05395431
71Cholinergic synapse_Homo sapiens_hsa047251.04620754
72Cell cycle_Homo sapiens_hsa041101.04229754
73Homologous recombination_Homo sapiens_hsa034401.02468977
74Rheumatoid arthritis_Homo sapiens_hsa053231.01160136
75Proteasome_Homo sapiens_hsa030500.97035048
76Phototransduction_Homo sapiens_hsa047440.96648242
77Non-homologous end-joining_Homo sapiens_hsa034500.94721414
78* Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.94230261
79Olfactory transduction_Homo sapiens_hsa047400.92990789
80Pentose and glucuronate interconversions_Homo sapiens_hsa000400.88624617
81Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.87434250
82alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.86641055
83Renal cell carcinoma_Homo sapiens_hsa052110.81505972
84Drug metabolism - other enzymes_Homo sapiens_hsa009830.81069597
85Vascular smooth muscle contraction_Homo sapiens_hsa042700.80885180
86Renin secretion_Homo sapiens_hsa049240.80222264
87Purine metabolism_Homo sapiens_hsa002300.79753789
88Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.79340111
89Insulin secretion_Homo sapiens_hsa049110.78617340
90* Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.77396248
91Gastric acid secretion_Homo sapiens_hsa049710.77146092
92Gap junction_Homo sapiens_hsa045400.73816533
93Phagosome_Homo sapiens_hsa041450.70045508
94Fatty acid metabolism_Homo sapiens_hsa012120.69778935
95Tight junction_Homo sapiens_hsa045300.68244842
96Pancreatic secretion_Homo sapiens_hsa049720.68242420
97Calcium signaling pathway_Homo sapiens_hsa040200.67580373
98Sphingolipid signaling pathway_Homo sapiens_hsa040710.67304697
99Histidine metabolism_Homo sapiens_hsa003400.66304565
100Phenylalanine metabolism_Homo sapiens_hsa003600.62597228
101Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.61959639
102Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.61671232
103Hippo signaling pathway_Homo sapiens_hsa043900.60909319
104Regulation of autophagy_Homo sapiens_hsa041400.60479920
105Oxytocin signaling pathway_Homo sapiens_hsa049210.60181431
106Ras signaling pathway_Homo sapiens_hsa040140.59504249
107Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.59235570
108p53 signaling pathway_Homo sapiens_hsa041150.58891848
109ErbB signaling pathway_Homo sapiens_hsa040120.57968859
110Phospholipase D signaling pathway_Homo sapiens_hsa040720.57939610
111Arginine and proline metabolism_Homo sapiens_hsa003300.57531456
112Selenocompound metabolism_Homo sapiens_hsa004500.56425990
113Adherens junction_Homo sapiens_hsa045200.56377797
114Central carbon metabolism in cancer_Homo sapiens_hsa052300.54792582
115Fanconi anemia pathway_Homo sapiens_hsa034600.54717216
116Arachidonic acid metabolism_Homo sapiens_hsa005900.53677221
117Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.52747450
118Autoimmune thyroid disease_Homo sapiens_hsa053200.52587347
119Oocyte meiosis_Homo sapiens_hsa041140.51952551
120Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.51791296
121Arginine biosynthesis_Homo sapiens_hsa002200.50589461
122* Endocytosis_Homo sapiens_hsa041440.49701382
123Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.48932748
124beta-Alanine metabolism_Homo sapiens_hsa004100.48761810
125cAMP signaling pathway_Homo sapiens_hsa040240.48147531
126Glycerophospholipid metabolism_Homo sapiens_hsa005640.47776247
127Fatty acid degradation_Homo sapiens_hsa000710.46196114
128Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.46180484
129Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.46090015
130Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.46046532
131Glutathione metabolism_Homo sapiens_hsa004800.45216314
132GnRH signaling pathway_Homo sapiens_hsa049120.44175949
133Ovarian steroidogenesis_Homo sapiens_hsa049130.44041432
134Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.43607386
135Alcoholism_Homo sapiens_hsa050340.43421322
136RNA polymerase_Homo sapiens_hsa030200.43231415
137Metabolic pathways_Homo sapiens_hsa011000.42817294
138Peroxisome_Homo sapiens_hsa041460.42724401
139Thyroid cancer_Homo sapiens_hsa052160.42059676
140Melanogenesis_Homo sapiens_hsa049160.40426315
141Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.38769648
142Fat digestion and absorption_Homo sapiens_hsa049750.38707128
143Lysosome_Homo sapiens_hsa041420.38607508
144ECM-receptor interaction_Homo sapiens_hsa045120.38330534
145Aldosterone synthesis and secretion_Homo sapiens_hsa049250.38228698
146Hedgehog signaling pathway_Homo sapiens_hsa043400.36126638
147RNA degradation_Homo sapiens_hsa030180.35371841
148Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.35208773
149Bladder cancer_Homo sapiens_hsa052190.34243644
150TGF-beta signaling pathway_Homo sapiens_hsa043500.31620355
151Pyruvate metabolism_Homo sapiens_hsa006200.31580834
152Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.31486541
153Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.31432226
154Starch and sucrose metabolism_Homo sapiens_hsa005000.31402416
155Chemical carcinogenesis_Homo sapiens_hsa052040.31123991
156Choline metabolism in cancer_Homo sapiens_hsa052310.30324760
157Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.29473520
158Basal transcription factors_Homo sapiens_hsa030220.28746613
159Mineral absorption_Homo sapiens_hsa049780.28616511
160Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.28531364
161Prion diseases_Homo sapiens_hsa050200.27981409
162Phosphatidylinositol signaling system_Homo sapiens_hsa040700.27010602
163Propanoate metabolism_Homo sapiens_hsa006400.25920576
164Tyrosine metabolism_Homo sapiens_hsa003500.25632134
165Dorso-ventral axis formation_Homo sapiens_hsa043200.25201364
166Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.23203528

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