DEPDC5

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





Description: This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this gene is a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation of gamma-delta T cell activation (GO:0046645)5.86560506
2regulation of B cell receptor signaling pathway (GO:0050855)5.09495046
3B cell receptor signaling pathway (GO:0050853)4.69994673
4positive thymic T cell selection (GO:0045059)4.38289282
5regulation of gamma-delta T cell activation (GO:0046643)4.38285432
6regulation of gamma-delta T cell differentiation (GO:0045586)4.37152088
7negative thymic T cell selection (GO:0045060)4.23147810
8positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)4.20637494
9regulation of short-term neuronal synaptic plasticity (GO:0048172)4.15684616
10modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.11234615
11positive regulation by organism of defense response of other organism involved in symbiotic interact4.11234615
12modulation by symbiont of host immune response (GO:0052553)4.11234615
13positive regulation by symbiont of host defense response (GO:0052509)4.11234615
14modulation by symbiont of host defense response (GO:0052031)4.11234615
15modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.11234615
16negative T cell selection (GO:0043383)4.04033240
17regulation of interferon-beta biosynthetic process (GO:0045357)3.91886542
18macrophage activation involved in immune response (GO:0002281)3.90176379
19positive T cell selection (GO:0043368)3.90114728
20positive regulation of granulocyte differentiation (GO:0030854)3.74791372
21pre-miRNA processing (GO:0031054)3.71861310
22cerebellar Purkinje cell differentiation (GO:0021702)3.63887211
23branching involved in prostate gland morphogenesis (GO:0060442)3.61438275
24negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.57657348
25negative regulation of cell killing (GO:0031342)3.57657348
26T cell selection (GO:0045058)3.56169653
27immunoglobulin mediated immune response (GO:0016064)3.55929575
28antigen processing and presentation of endogenous antigen (GO:0019883)3.55731133
29regulation of antigen receptor-mediated signaling pathway (GO:0050854)3.44037575
30synaptic vesicle maturation (GO:0016188)3.43186988
31locomotory exploration behavior (GO:0035641)3.40183503
32regulation of B cell differentiation (GO:0045577)3.39706691
33positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.39449879
34synaptic vesicle docking involved in exocytosis (GO:0016081)3.38707619
35cellular response to ethanol (GO:0071361)3.36499262
36microglial cell activation (GO:0001774)3.36454644
37thymic T cell selection (GO:0045061)3.35962718
38synaptic vesicle endocytosis (GO:0048488)3.34162781
39positive regulation of B cell differentiation (GO:0045579)3.30474855
40cellular extravasation (GO:0045123)3.27574935
41antigen processing and presentation via MHC class Ib (GO:0002475)3.25776399
42tolerance induction (GO:0002507)3.25668186
43negative regulation of translation, ncRNA-mediated (GO:0040033)3.24379105
44regulation of translation, ncRNA-mediated (GO:0045974)3.24379105
45negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.24379105
46regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.21154019
47B cell proliferation (GO:0042100)3.21071769
48positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.19663699
49positive regulation of interferon-alpha production (GO:0032727)3.17153905
50regulation of interleukin-5 production (GO:0032674)3.15906001
51nuclear pore complex assembly (GO:0051292)3.14992235
52B cell mediated immunity (GO:0019724)3.12212342
53prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060523.12109364
54nuclear pore organization (GO:0006999)3.08130402
55regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.07258581
56defense response to protozoan (GO:0042832)3.04931438
57regulation of interferon-alpha production (GO:0032647)3.04610102
58mitotic sister chromatid cohesion (GO:0007064)3.04431544
59synaptic vesicle exocytosis (GO:0016079)3.03375960
60positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)3.03010119
61regulation of synaptic vesicle exocytosis (GO:2000300)3.02658863
62histone H3-K4 trimethylation (GO:0080182)3.02428533
63neutrophil activation involved in immune response (GO:0002283)3.00565216
64stress granule assembly (GO:0034063)3.00140597
65regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.99707748
66hepatocyte apoptotic process (GO:0097284)2.99345780
67B cell homeostasis (GO:0001782)2.98973898
68glucocorticoid receptor signaling pathway (GO:0042921)2.98554413
69myeloid cell activation involved in immune response (GO:0002275)2.97792446
70antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.93908037
71positive regulation of developmental pigmentation (GO:0048087)2.93660921
72regulation of ARF protein signal transduction (GO:0032012)2.93556239
73positive regulation of interleukin-8 biosynthetic process (GO:0045416)2.93552838
74interferon-gamma-mediated signaling pathway (GO:0060333)2.91438472
75response to host immune response (GO:0052572)2.90723008
76response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.90723008
77membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.90335270
78regulation of T cell receptor signaling pathway (GO:0050856)2.90240099
79antigen receptor-mediated signaling pathway (GO:0050851)2.88547638
80prenylation (GO:0097354)2.88128879
81protein prenylation (GO:0018342)2.88128879
82ionotropic glutamate receptor signaling pathway (GO:0035235)2.87643865
83glutamate secretion (GO:0014047)2.87425335
84regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.86640684
85positive regulation of interferon-beta production (GO:0032728)2.86474290
86microtubule nucleation (GO:0007020)2.86330738
87antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.85984022
88positive regulation of mast cell activation (GO:0033005)2.84459652
89artery development (GO:0060840)2.83959763
90protein K11-linked deubiquitination (GO:0035871)2.83174863
91response to protozoan (GO:0001562)2.82414156
92regulation of protein polyubiquitination (GO:1902914)2.82032646
93regulation of germinal center formation (GO:0002634)2.81930383
94positive regulation of cytokine biosynthetic process (GO:0042108)2.81847794
95histone H3-K9 methylation (GO:0051567)2.79900923
96positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.79127454
97macrophage activation (GO:0042116)2.77861631
98regulation of glutamate receptor signaling pathway (GO:1900449)2.76177751
99cytoplasmic mRNA processing body assembly (GO:0033962)2.75429432
100purinergic nucleotide receptor signaling pathway (GO:0035590)2.74135834
101establishment of nucleus localization (GO:0040023)2.73247926
102synaptic transmission, glutamatergic (GO:0035249)2.72289375
103sodium ion export (GO:0071436)2.72181233
104vocalization behavior (GO:0071625)2.71021105
105protein localization to synapse (GO:0035418)2.69056124
106cellular potassium ion homeostasis (GO:0030007)2.68943052
107peptidyl-lysine dimethylation (GO:0018027)2.67881673
108negative regulation of lymphocyte mediated immunity (GO:0002707)2.67781457
109histone H3-K4 methylation (GO:0051568)2.67195090
110membrane depolarization during action potential (GO:0086010)2.66841190
111layer formation in cerebral cortex (GO:0021819)2.66488062
112potassium ion homeostasis (GO:0055075)2.65858026
113regulation of NFAT protein import into nucleus (GO:0051532)2.65583245
114regulation of clathrin-mediated endocytosis (GO:2000369)2.65476984
115negative regulation of interleukin-12 production (GO:0032695)2.65246818
116positive regulation of mast cell degranulation (GO:0043306)2.65194422
117positive regulation of mast cell activation involved in immune response (GO:0033008)2.65194422
118cellular response to interleukin-15 (GO:0071350)2.64949285
119protein K48-linked deubiquitination (GO:0071108)2.64266778
120antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.63944129
121regulation of interferon-beta production (GO:0032648)2.63648880
122negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)2.63054632
123centriole replication (GO:0007099)2.62566790
124negative regulation of organelle assembly (GO:1902116)2.62321996
125establishment of protein localization to Golgi (GO:0072600)2.61905220
126granulocyte activation (GO:0036230)2.61428179
127positive regulation of gene expression, epigenetic (GO:0045815)2.60324261
128cell migration in hindbrain (GO:0021535)2.59971438
129positive regulation of defense response to virus by host (GO:0002230)2.58426760
130response to type I interferon (GO:0034340)2.57793849
131histone lysine methylation (GO:0034968)2.57677000
132cellular response to type I interferon (GO:0071357)2.57345376
133type I interferon signaling pathway (GO:0060337)2.57345376
134response to interleukin-15 (GO:0070672)2.57306673
135neutrophil activation (GO:0042119)2.57151738
136regulation of synaptic vesicle transport (GO:1902803)2.55753270
137mature B cell differentiation (GO:0002335)2.55650975
138regulation of B cell proliferation (GO:0030888)2.55608968
139regulation of antigen processing and presentation (GO:0002577)2.55482330
140positive regulation of synapse maturation (GO:0090129)2.54730288
141negative regulation of T cell mediated immunity (GO:0002710)2.54230740
142innervation (GO:0060384)2.54193770
143regulation of mast cell activation (GO:0033003)2.54144509
144NIK/NF-kappaB signaling (GO:0038061)2.53762446
145production of molecular mediator involved in inflammatory response (GO:0002532)2.53583886
146histone H3-K36 demethylation (GO:0070544)2.53546410
147regulation of alpha-beta T cell proliferation (GO:0046640)2.53046010
148positive regulation of B cell proliferation (GO:0030890)2.52759023
149mannose metabolic process (GO:0006013)2.52197369
150axonal fasciculation (GO:0007413)2.52085687
151natural killer cell differentiation (GO:0001779)2.51655640
152pore complex assembly (GO:0046931)2.50305687
153negative regulation of adaptive immune response based on somatic recombination of immune receptors b2.48740402
154I-kappaB phosphorylation (GO:0007252)2.48706954
155vesicle transport along microtubule (GO:0047496)2.47763391
156glutamate receptor signaling pathway (GO:0007215)2.47755842
157neuron cell-cell adhesion (GO:0007158)2.47278676
158peptidyl-threonine phosphorylation (GO:0018107)2.46792984
159peptidyl-lysine trimethylation (GO:0018023)2.45977855
160retrograde transport, vesicle recycling within Golgi (GO:0000301)2.45726787
161response to auditory stimulus (GO:0010996)2.45363880
162central nervous system projection neuron axonogenesis (GO:0021952)2.44964859
163cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.44580439
164histone H3-K9 modification (GO:0061647)2.42984639
165NLS-bearing protein import into nucleus (GO:0006607)2.41491654
166neuron-neuron synaptic transmission (GO:0007270)2.41208040
167neurotransmitter secretion (GO:0007269)2.41068282
168proline transport (GO:0015824)2.39816680
169dendrite morphogenesis (GO:0048813)2.39270054
170regulation of synapse maturation (GO:0090128)2.38684574
171regulation of neuronal synaptic plasticity (GO:0048168)2.38614085
172regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.36466673
173negative regulation of histone methylation (GO:0031061)2.36160288
174Golgi to endosome transport (GO:0006895)2.34002331
175corticosteroid receptor signaling pathway (GO:0031958)2.33090130
176replicative senescence (GO:0090399)2.33018198
177determination of adult lifespan (GO:0008340)2.31172000
178adult walking behavior (GO:0007628)2.30894922
179phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)2.30556897
180regulation of RNA export from nucleus (GO:0046831)2.30540856
181long-term memory (GO:0007616)2.30221216
182protein-DNA complex disassembly (GO:0032986)2.29794540
183nucleosome disassembly (GO:0006337)2.29794540
184protein targeting to Golgi (GO:0000042)2.28559207
185histone lysine demethylation (GO:0070076)2.26191474
186gamma-aminobutyric acid signaling pathway (GO:0007214)2.26106314
187cell differentiation in hindbrain (GO:0021533)2.26014238
188histone H3-K9 demethylation (GO:0033169)2.25745407
189cell communication by electrical coupling (GO:0010644)2.25674449
190regulation of intracellular estrogen receptor signaling pathway (GO:0033146)2.23859473
191cytoskeletal anchoring at plasma membrane (GO:0007016)2.22195552
192nucleus localization (GO:0051647)2.21960790
193regulation of histone H3-K9 methylation (GO:0051570)2.21945218
194regulation of neurotransmitter secretion (GO:0046928)2.21688442
195histone H4-K16 acetylation (GO:0043984)2.20756507

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human5.89715198
2E2F7_22180533_ChIP-Seq_HELA_Human4.09311661
3IRF8_21731497_ChIP-ChIP_J774_Mouse4.03236596
4EZH2_22144423_ChIP-Seq_EOC_Human3.95635885
5ZFP322A_24550733_ChIP-Seq_MESCs_Mouse3.75125791
6STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.63875649
7IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.37923929
8FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.33519239
9GBX2_23144817_ChIP-Seq_PC3_Human2.78300663
10FOXM1_23109430_ChIP-Seq_U2OS_Human2.65043091
11MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.63780074
12DROSHA_22980978_ChIP-Seq_HELA_Human2.51599559
13SALL1_21062744_ChIP-ChIP_HESCs_Human2.50005240
14SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.47693970
15EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.46596563
16IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.46319221
17IRF8_27001747_Chip-Seq_BMDM_Mouse2.37608658
18SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.34793253
19MYB_26560356_Chip-Seq_TH2_Human2.30402041
20RUNX_20019798_ChIP-Seq_JUKART_Human2.28335706
21BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.17411998
22GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.15654151
23RARB_27405468_Chip-Seq_BRAIN_Mouse2.07547429
24CIITA_25753668_ChIP-Seq_RAJI_Human2.03526337
25NOTCH1_21737748_ChIP-Seq_TLL_Human2.03197622
26GATA3_26560356_Chip-Seq_TH2_Human2.00449110
27VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.98789099
28SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.96426612
29SCL_19346495_ChIP-Seq_HPC-7_Human1.94096568
30STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.93933584
31* SPI1_23547873_ChIP-Seq_NB4_Human1.91912591
32KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.89497352
33FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.85846987
34MYB_26560356_Chip-Seq_TH1_Human1.83895161
35SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.83832050
36FLI1_27457419_Chip-Seq_LIVER_Mouse1.82791188
37GATA3_27048872_Chip-Seq_THYMUS_Human1.78558033
38REST_21632747_ChIP-Seq_MESCs_Mouse1.71996382
39SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.68809902
40TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.68584728
41E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.65525567
42MYB_21317192_ChIP-Seq_ERMYB_Mouse1.64937398
43ELF1_17652178_ChIP-ChIP_JURKAT_Human1.64104351
44RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.62793184
45SMAD4_21799915_ChIP-Seq_A2780_Human1.60156944
46GATA1_26923725_Chip-Seq_HPCs_Mouse1.59068038
47* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.58220655
48CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.56145295
49STAT4_19710469_ChIP-ChIP_TH1__Mouse1.55734152
50IRF1_19129219_ChIP-ChIP_H3396_Human1.54864998
51PCGF2_27294783_Chip-Seq_ESCs_Mouse1.54829473
52POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.54783933
53TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.54783933
54VDR_23849224_ChIP-Seq_CD4+_Human1.52865448
55PCGF2_27294783_Chip-Seq_NPCs_Mouse1.51893057
56SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.49663500
57AHR_22903824_ChIP-Seq_MCF-7_Human1.49248276
58SPI1_23127762_ChIP-Seq_K562_Human1.47278445
59TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.47192800
60* DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.47161090
61GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.46416115
62ARNT_22903824_ChIP-Seq_MCF-7_Human1.45228930
63* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.44970882
64TCF4_23295773_ChIP-Seq_U87_Human1.44793907
65PKCTHETA_26484144_Chip-Seq_BREAST_Human1.42928312
66STAT6_21828071_ChIP-Seq_BEAS2B_Human1.42584559
67JARID2_20064375_ChIP-Seq_MESCs_Mouse1.42448608
68STAT3_23295773_ChIP-Seq_U87_Human1.42146377
69LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.41428890
70PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.40956366
71IGF1R_20145208_ChIP-Seq_DFB_Human1.40308709
72YAP1_20516196_ChIP-Seq_MESCs_Mouse1.39997832
73RNF2_27304074_Chip-Seq_ESCs_Mouse1.39772915
74TP53_16413492_ChIP-PET_HCT116_Human1.38820911
75FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.38606687
76SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.38379572
77CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.38100708
78VDR_24787735_ChIP-Seq_THP-1_Human1.37202938
79FOXP3_21729870_ChIP-Seq_TREG_Human1.36922609
80AR_19668381_ChIP-Seq_PC3_Human1.36584017
81AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.33787916
82EGR1_23403033_ChIP-Seq_LIVER_Mouse1.33448513
83CTNNB1_20460455_ChIP-Seq_HCT116_Human1.33319158
84* SOX2_21211035_ChIP-Seq_LN229_Gbm1.32735519
85NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.32443971
86* REST_18959480_ChIP-ChIP_MESCs_Mouse1.32355048
87FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human1.32087002
88IKZF1_21737484_ChIP-ChIP_HCT116_Human1.30266307
89ZFP281_27345836_Chip-Seq_ESCs_Mouse1.30067006
90VDR_22108803_ChIP-Seq_LS180_Human1.30044981
91RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.28323707
92AR_21572438_ChIP-Seq_LNCaP_Human1.26356709
93TAF15_26573619_Chip-Seq_HEK293_Human1.25473171
94SOX9_26525672_Chip-Seq_HEART_Mouse1.25006747
95FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.24652171
96ZNF217_24962896_ChIP-Seq_MCF-7_Human1.22618789
97SMRT_27268052_Chip-Seq_Bcells_Human1.22565447
98E2F4_17652178_ChIP-ChIP_JURKAT_Human1.21586737
99SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.21123844
100SMAD3_21741376_ChIP-Seq_EPCs_Human1.21108233
101Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.20081772
102RNF2_18974828_ChIP-Seq_MESCs_Mouse1.19748970
103EZH2_18974828_ChIP-Seq_MESCs_Mouse1.19748970
104SMAD_19615063_ChIP-ChIP_OVARY_Human1.19583705
105CTBP1_25329375_ChIP-Seq_LNCAP_Human1.19232961
106GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.18914797
107EWS_26573619_Chip-Seq_HEK293_Human1.18654819
108ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.18218754
109RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.18164377
110SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.17571173
111MAF_26560356_Chip-Seq_TH1_Human1.17344342
112RUNX1_22412390_ChIP-Seq_EML_Mouse1.17244901
113CTBP2_25329375_ChIP-Seq_LNCAP_Human1.16411603
114LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.15543328
115MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.14640883
116MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.13567478
117* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.13390229
118NFE2_27457419_Chip-Seq_LIVER_Mouse1.13024660
119TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.12345009
120SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.12230447
121CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.11862792
122TP53_22573176_ChIP-Seq_HFKS_Human1.10983428
123SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.09662869
124EZH2_27304074_Chip-Seq_ESCs_Mouse1.09041703
125MTF2_20144788_ChIP-Seq_MESCs_Mouse1.08896689
126TCF4_18268006_ChIP-ChIP_LS174T_Human1.08627760
127P53_22127205_ChIP-Seq_FIBROBLAST_Human1.08343803
128SUZ12_27294783_Chip-Seq_NPCs_Mouse1.07892511
129JARID2_20075857_ChIP-Seq_MESCs_Mouse1.07532039
130PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.07322689
131RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.06899842
132ISL1_27105846_Chip-Seq_CPCs_Mouse1.06716848
133TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.05589187
134* UTX_26944678_Chip-Seq_JUKART_Human1.05182942
135FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.05104195
136ZNF274_21170338_ChIP-Seq_K562_Hela1.04187642
137FUS_26573619_Chip-Seq_HEK293_Human1.03734228
138STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.03667327
139KDM2B_26808549_Chip-Seq_K562_Human1.03207433
140SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.02860404
141MYC_22102868_ChIP-Seq_BL_Human1.01457903
142RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.00903932
143* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.00659845
144SMAD3_21741376_ChIP-Seq_ESCs_Human1.00069588
145PU_27001747_Chip-Seq_BMDM_Mouse0.99952617
146NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.99388906
147PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.99242286
148PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.99142606
149* GATA1_19941827_ChIP-Seq_MEL_Mouse0.98297789
150CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.98187886
151NR3C1_23031785_ChIP-Seq_PC12_Mouse0.97636789
152TBX3_20139965_ChIP-Seq_ESCs_Mouse0.97397414
153CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.97395369
154TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.97217729
155GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.96984766
156TBX3_20139965_ChIP-Seq_MESCs_Mouse0.96232841
157TFEB_21752829_ChIP-Seq_HELA_Human0.95879936
158ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.95043955
159ZFP281_18757296_ChIP-ChIP_E14_Mouse0.94992726
160WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.94650365
161P300_19829295_ChIP-Seq_ESCs_Human0.93952765
162EST1_17652178_ChIP-ChIP_JURKAT_Human0.93499999
163HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.93116221
164EZH2_27294783_Chip-Seq_ESCs_Mouse0.93096237
165* NANOG_18555785_Chip-Seq_ESCs_Mouse0.93013702
166EZH2_27294783_Chip-Seq_NPCs_Mouse0.92611055
167VDR_24763502_ChIP-Seq_THP-1_Human0.92225112
168POU3F2_20337985_ChIP-ChIP_501MEL_Human0.92190730
169AR_25329375_ChIP-Seq_VCAP_Human0.92069177
170TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91276910
171TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.91272420
172RING1B_27294783_Chip-Seq_NPCs_Mouse0.91175460
173OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.91041661
174ER_23166858_ChIP-Seq_MCF-7_Human0.90808235
175BCAT_22108803_ChIP-Seq_LS180_Human0.89326463
176HOXB4_20404135_ChIP-ChIP_EML_Mouse0.89005256
177* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.88335409
178CRX_20693478_ChIP-Seq_RETINA_Mouse0.88186594
179PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.87439278
180BRD4_27068464_Chip-Seq_AML-cells_Mouse0.86692357
181GATA3_26560356_Chip-Seq_TH1_Human0.85895070
182GATA2_21666600_ChIP-Seq_HMVEC_Human0.85567527
183SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.85146742

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000569_abnormal_digit_pigmentation5.62517112
2MP0004859_abnormal_synaptic_plasticity4.26376726
3MP0001835_abnormal_antigen_presentation3.78808673
4MP0005671_abnormal_response_to3.24548372
5MP0001800_abnormal_humoral_immune3.11678579
6MP0003787_abnormal_imprinting3.10927578
7MP0005075_abnormal_melanosome_morpholog3.06215786
8MP0000685_abnormal_immune_system2.88613969
9MP0003763_abnormal_thymus_physiology2.82826352
10MP0008877_abnormal_DNA_methylation2.75340011
11MP0003635_abnormal_synaptic_transmissio2.50785550
12MP0005387_immune_system_phenotype2.48894466
13MP0001790_abnormal_immune_system2.48894466
14MP0002452_abnormal_antigen_presenting2.37258459
15MP0002723_abnormal_immune_serum2.34940012
16MP0005000_abnormal_immune_tolerance2.29543225
17MP0004270_analgesia2.28129186
18MP0003880_abnormal_central_pattern2.26579603
19MP0009046_muscle_twitch2.21437184
20MP0002138_abnormal_hepatobiliary_system2.16402290
21MP0002420_abnormal_adaptive_immunity2.15052404
22MP0001819_abnormal_immune_cell2.12284940
23MP0005423_abnormal_somatic_nervous2.05322012
24MP0002063_abnormal_learning/memory/cond1.98466588
25MP0002398_abnormal_bone_marrow1.93109790
26MP0003890_abnormal_embryonic-extraembry1.90181143
27MP0005025_abnormal_response_to1.89870589
28MP0000778_abnormal_nervous_system1.86600332
29MP0000716_abnormal_immune_system1.86257332
30MP0002419_abnormal_innate_immunity1.85688821
31MP0003436_decreased_susceptibility_to1.84788728
32MP0002064_seizures1.83874134
33MP0002735_abnormal_chemical_nociception1.82775803
34MP0009745_abnormal_behavioral_response1.80234809
35MP0000689_abnormal_spleen_morphology1.79451435
36MP0001486_abnormal_startle_reflex1.76541010
37MP0002653_abnormal_ependyma_morphology1.75069885
38MP0003121_genomic_imprinting1.74993596
39MP0002184_abnormal_innervation1.73527841
40MP0003303_peritoneal_inflammation1.71353433
41MP0002148_abnormal_hypersensitivity_rea1.69382002
42MP0003724_increased_susceptibility_to1.69269544
43MP0001348_abnormal_lacrimal_gland1.67150811
44MP0005310_abnormal_salivary_gland1.66164846
45MP0005464_abnormal_platelet_physiology1.63078487
46MP0002572_abnormal_emotion/affect_behav1.62138424
47MP0001968_abnormal_touch/_nociception1.62071723
48MP0002734_abnormal_mechanical_nocicepti1.57974896
49MP0001545_abnormal_hematopoietic_system1.56761419
50MP0005397_hematopoietic_system_phenotyp1.56761419
51MP0003195_calcinosis1.56004709
52MP0004811_abnormal_neuron_physiology1.55283662
53MP0002272_abnormal_nervous_system1.53207757
54MP0002396_abnormal_hematopoietic_system1.52606882
55MP0000371_diluted_coat_color1.51419036
56MP0002405_respiratory_system_inflammati1.51054827
57MP0002429_abnormal_blood_cell1.49422111
58MP0009785_altered_susceptibility_to1.48842525
59MP0002722_abnormal_immune_system1.48495040
60MP0004858_abnormal_nervous_system1.47752224
61MP0004885_abnormal_endolymph1.47632340
62MP0008057_abnormal_DNA_replication1.47630918
63MP0002102_abnormal_ear_morphology1.47088896
64MP0010094_abnormal_chromosome_stability1.46802190
65MP0001845_abnormal_inflammatory_respons1.45279651
66MP0000703_abnormal_thymus_morphology1.44694125
67MP0005646_abnormal_pituitary_gland1.43237473
68MP0000537_abnormal_urethra_morphology1.43033751
69MP0000955_abnormal_spinal_cord1.42558119
70MP0003111_abnormal_nucleus_morphology1.42125996
71MP0008260_abnormal_autophagy1.37146384
72MP0002067_abnormal_sensory_capabilities1.36249576
73MP0002736_abnormal_nociception_after1.35729511
74MP0002166_altered_tumor_susceptibility1.34792668
75MP0009278_abnormal_bone_marrow1.34665964
76MP0002557_abnormal_social/conspecific_i1.29093024
77MP0003183_abnormal_peptide_metabolism1.27547326
78MP0002882_abnormal_neuron_morphology1.27363868
79MP0001299_abnormal_eye_distance/1.25790989
80MP0002152_abnormal_brain_morphology1.24712345
81MP0008569_lethality_at_weaning1.23005802
82MP0003861_abnormal_nervous_system1.22071726
83MP0003123_paternal_imprinting1.21619319
84MP0003698_abnormal_male_reproductive1.21455673
85MP0004381_abnormal_hair_follicle1.20312864
86MP0003646_muscle_fatigue1.18180534
87MP0005076_abnormal_cell_differentiation1.16442095
88MP0003786_premature_aging1.15715644
89MP0003632_abnormal_nervous_system1.14103904
90MP0003866_abnormal_defecation1.12199682
91MP0000372_irregular_coat_pigmentation1.11414677
92MP0003252_abnormal_bile_duct1.11041794
93MP0005551_abnormal_eye_electrophysiolog1.10725680
94MP0001853_heart_inflammation1.09797046
95MP0005408_hypopigmentation1.09210727
96MP0009764_decreased_sensitivity_to1.08329584
97MP0003045_fibrosis1.07834802
98MP0001970_abnormal_pain_threshold1.07120332
99MP0005451_abnormal_body_composition1.06991767
100MP0005645_abnormal_hypothalamus_physiol1.05936624
101MP0001440_abnormal_grooming_behavior1.04579000
102MP0004808_abnormal_hematopoietic_stem1.04457119
103MP0002638_abnormal_pupillary_reflex1.04397119
104MP0010307_abnormal_tumor_latency1.03942394
105MP0000566_synostosis1.03719418
106MP0002006_tumorigenesis1.02968056
107MP0005386_behavior/neurological_phenoty1.02755109
108MP0004924_abnormal_behavior1.02755109
109MP0006082_CNS_inflammation1.01486826
110MP0002095_abnormal_skin_pigmentation1.01479558
111MP0005499_abnormal_olfactory_system1.01018333
112MP0005394_taste/olfaction_phenotype1.01018333
113MP0002733_abnormal_thermal_nociception1.00359540
114MP0004742_abnormal_vestibular_system0.99253079
115MP0009780_abnormal_chondrocyte_physiolo0.98658395
116MP0000631_abnormal_neuroendocrine_gland0.98595817
117MP0010155_abnormal_intestine_physiology0.96896956
118MP0009333_abnormal_splenocyte_physiolog0.96765317
119MP0002229_neurodegeneration0.96197603
120MP0002009_preneoplasia0.96121642
121MP0001873_stomach_inflammation0.95014281
122MP0008469_abnormal_protein_level0.94564612
123MP0004947_skin_inflammation0.93105820
124MP0003937_abnormal_limbs/digits/tail_de0.92854659
125MP0009703_decreased_birth_body0.92229714
126MP0001661_extended_life_span0.92180861
127MP0001984_abnormal_olfaction0.91913608
128MP0000350_abnormal_cell_proliferation0.91003345
129MP0002084_abnormal_developmental_patter0.90932826
130MP0001986_abnormal_taste_sensitivity0.90022650
131MP0002075_abnormal_coat/hair_pigmentati0.89324885
132MP0005058_abnormal_lysosome_morphology0.88136752
133MP0003300_gastrointestinal_ulcer0.88010567
134MP0005409_darkened_coat_color0.87871000
135MP0003077_abnormal_cell_cycle0.87823217
136MP0002066_abnormal_motor_capabilities/c0.86583603
137MP0009840_abnormal_foam_cell0.86553913
138MP0009672_abnormal_birth_weight0.86161381
139MP0003656_abnormal_erythrocyte_physiolo0.86133920
140MP0001929_abnormal_gametogenesis0.85603969
141MP0003631_nervous_system_phenotype0.85459552
142MP0002693_abnormal_pancreas_physiology0.85429419
143MP0000015_abnormal_ear_pigmentation0.85325258
144MP0002751_abnormal_autonomic_nervous0.85298817
145MP0005174_abnormal_tail_pigmentation0.84343954
146MP0002019_abnormal_tumor_incidence0.83663253
147MP0005647_abnormal_sex_gland0.83463422
148MP0005410_abnormal_fertilization0.83029821
149MP0002210_abnormal_sex_determination0.82954420
150MP0003122_maternal_imprinting0.82466254
151MP0008058_abnormal_DNA_repair0.82354266
152MP0001346_abnormal_lacrimal_gland0.82094445
153MP0000465_gastrointestinal_hemorrhage0.81619769
154MP0008995_early_reproductive_senescence0.81031205
155MP0004145_abnormal_muscle_electrophysio0.80268121
156MP0010234_abnormal_vibrissa_follicle0.80122024
157MP0010352_gastrointestinal_tract_polyps0.79392423
158MP0001145_abnormal_male_reproductive0.78669269
159MP0001293_anophthalmia0.77873304
160MP0008961_abnormal_basal_metabolism0.77639666
161MP0002752_abnormal_somatic_nervous0.76051659
162MP0006036_abnormal_mitochondrial_physio0.74506741
163MP0002085_abnormal_embryonic_tissue0.74370472
164MP0003172_abnormal_lysosome_physiology0.74291275
165MP0001730_embryonic_growth_arrest0.73885506
166MP0003221_abnormal_cardiomyocyte_apopto0.73581339
167MP0005253_abnormal_eye_physiology0.72896043
168MP0003935_abnormal_craniofacial_develop0.72343919
169MP0000383_abnormal_hair_follicle0.71870281
170MP0006035_abnormal_mitochondrial_morpho0.71793040
171MP0006292_abnormal_olfactory_placode0.71781702
172MP0004264_abnormal_extraembryonic_tissu0.71739958
173MP0008872_abnormal_physiological_respon0.67849025
174MP0005266_abnormal_metabolism0.66733366
175MP0008007_abnormal_cellular_replicative0.66203327
176MP0005584_abnormal_enzyme/coenzyme_acti0.65687053
177MP0005379_endocrine/exocrine_gland_phen0.65340974
178MP0001501_abnormal_sleep_pattern0.64777692
179MP0003943_abnormal_hepatobiliary_system0.64063989
180MP0008875_abnormal_xenobiotic_pharmacok0.60236503
181MP0005167_abnormal_blood-brain_barrier0.56069267
182MP0001186_pigmentation_phenotype0.55781889
183MP0004484_altered_response_of0.54865861

Predicted human phenotypes

RankGene SetZ-score
1IgM deficiency (HP:0002850)5.67340328
2Abnormality of B cell number (HP:0010975)3.87396515
3Recurrent fungal infections (HP:0002841)3.78599917
4IgG deficiency (HP:0004315)3.78133553
5Recurrent viral infections (HP:0004429)3.77250434
6Agammaglobulinemia (HP:0004432)3.74039497
7Stomatitis (HP:0010280)3.64502845
8Abnormal delayed hypersensitivity skin test (HP:0002963)3.54062564
9B lymphocytopenia (HP:0010976)3.53442493
10Panhypogammaglobulinemia (HP:0003139)3.50953409
11Mediastinal lymphadenopathy (HP:0100721)3.50353195
12Recurrent bronchitis (HP:0002837)3.45740408
13Lymphopenia (HP:0001888)3.39648678
14Abnormality of T cell physiology (HP:0011840)3.38424037
15Recurrent bacterial skin infections (HP:0005406)3.24417949
16Febrile seizures (HP:0002373)3.18308762
17Autoimmune hemolytic anemia (HP:0001890)3.13948545
18Focal motor seizures (HP:0011153)3.09569115
19Abnormality of T cells (HP:0002843)3.08220047
20Meningitis (HP:0001287)3.03319298
21Abnormality of cells of the lymphoid lineage (HP:0012140)3.01656134
22Myokymia (HP:0002411)2.93577195
23Albinism (HP:0001022)2.92401607
24Recurrent abscess formation (HP:0002722)2.91588975
25Vasculitis (HP:0002633)2.90460567
26Focal seizures (HP:0007359)2.88451207
27Astrocytoma (HP:0009592)2.85113011
28Abnormality of the astrocytes (HP:0100707)2.85113011
29Recurrent cutaneous fungal infections (HP:0011370)2.84735664
30Chronic mucocutaneous candidiasis (HP:0002728)2.84735664
31Hyperacusis (HP:0010780)2.83322667
32Abnormality of the lower motor neuron (HP:0002366)2.81096436
33Abnormality of cochlea (HP:0000375)2.80505463
34Abnormality of the fingertips (HP:0001211)2.77780667
35IgA deficiency (HP:0002720)2.73220198
36Action tremor (HP:0002345)2.72569388
37Autoimmune thrombocytopenia (HP:0001973)2.68023168
38Gonadotropin excess (HP:0000837)2.67886502
39T lymphocytopenia (HP:0005403)2.67216836
40Abnormality of the prostate (HP:0008775)2.66199825
41Recurrent sinusitis (HP:0011108)2.65965800
42Abnormality of T cell number (HP:0011839)2.65479066
43Heterotopia (HP:0002282)2.64842805
44Renovascular hypertension (HP:0100817)2.61237458
45Inflammation of the large intestine (HP:0002037)2.60841306
46Colitis (HP:0002583)2.60779760
47Macroorchidism (HP:0000053)2.58906377
48Eczematoid dermatitis (HP:0000976)2.55819326
49Elfin facies (HP:0004428)2.53437119
50Aqueductal stenosis (HP:0002410)2.51205603
51Gastrointestinal stroma tumor (HP:0100723)2.46065144
52Pustule (HP:0200039)2.46046248
53Recurrent skin infections (HP:0001581)2.44856657
54Gastrointestinal inflammation (HP:0004386)2.43989037
55Severe combined immunodeficiency (HP:0004430)2.43478551
56Progressive inability to walk (HP:0002505)2.41533877
57Overriding aorta (HP:0002623)2.41347020
58Elevated erythrocyte sedimentation rate (HP:0003565)2.40494311
59Eosinophilia (HP:0001880)2.37394753
60Thyroiditis (HP:0100646)2.34845631
61Progressive cerebellar ataxia (HP:0002073)2.34608955
62Recurrent gram-negative bacterial infections (HP:0005420)2.34598663
63Urinary bladder sphincter dysfunction (HP:0002839)2.34437476
64Impaired vibration sensation in the lower limbs (HP:0002166)2.34364989
65Papilloma (HP:0012740)2.33492100
66Verrucae (HP:0200043)2.33492100
67Termporal pattern (HP:0011008)2.32291267
68Insidious onset (HP:0003587)2.32291267
69Trigonocephaly (HP:0000243)2.31974320
70Chronic diarrhea (HP:0002028)2.31084821
71Bronchitis (HP:0012387)2.30378120
72Insomnia (HP:0100785)2.30334894
73Ectopic kidney (HP:0000086)2.29253299
74Papillary thyroid carcinoma (HP:0002895)2.27738176
75Abnormality of the corticospinal tract (HP:0002492)2.27038487
76Pointed chin (HP:0000307)2.26444374
77Hemoptysis (HP:0002105)2.25196239
78Glioma (HP:0009733)2.22587737
79Abnormality of eosinophils (HP:0001879)2.22535883
80Epileptic encephalopathy (HP:0200134)2.22147309
81Ependymoma (HP:0002888)2.21922477
82Hematochezia (HP:0002573)2.21397286
83Stomach cancer (HP:0012126)2.20522956
84Granulocytopenia (HP:0001913)2.19782377
85Leukocytosis (HP:0001974)2.18817410
86Osteomyelitis (HP:0002754)2.16216092
87Renal cortical cysts (HP:0000803)2.15243769
88Spontaneous hematomas (HP:0007420)2.14948976
89Chromosomal breakage induced by crosslinking agents (HP:0003221)2.14612768
90Obsessive-compulsive behavior (HP:0000722)2.14273004
91Renal duplication (HP:0000075)2.11990584
92Chromsome breakage (HP:0040012)2.11531804
93Prostate neoplasm (HP:0100787)2.10575909
94Prolonged bleeding time (HP:0003010)2.10522373
95Abnormality of the labia minora (HP:0012880)2.10227726
96Abnormality of ocular smooth pursuit (HP:0000617)2.10088305
97Truncal obesity (HP:0001956)2.09578147
98Pulmonary infiltrates (HP:0002113)2.09485165
99Gaze-evoked nystagmus (HP:0000640)2.08482996
100Urethral obstruction (HP:0000796)2.06291726
101Chest pain (HP:0100749)2.05718835
102Ankle clonus (HP:0011448)2.05665933
103Anal stenosis (HP:0002025)2.05550147
104Abnormality of macrophages (HP:0004311)2.05379507
105Recurrent pneumonia (HP:0006532)2.04038519
106Encephalitis (HP:0002383)2.03815078
107Increased nuchal translucency (HP:0010880)2.03741788
108Abnormality of the renal cortex (HP:0011035)2.03206711
109Lymphoma (HP:0002665)2.00129566
110Narrow palate (HP:0000189)2.00002820
111Absent speech (HP:0001344)1.99979437
112Morphological abnormality of the inner ear (HP:0011390)1.97951541
113Neutropenia (HP:0001875)1.97494966
114Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.96497421
115Short 4th metacarpal (HP:0010044)1.96497421
116Retrobulbar optic neuritis (HP:0100654)1.95552699
117Optic neuritis (HP:0100653)1.95552699
118Hypoplastic iliac wings (HP:0002866)1.95219525
119Chronic otitis media (HP:0000389)1.93855786
120Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.92729799
121Degeneration of the lateral corticospinal tracts (HP:0002314)1.92729799
122Urinary urgency (HP:0000012)1.92432360
123Combined immunodeficiency (HP:0005387)1.92236453
124Increased neuronal autofluorescent lipopigment (HP:0002074)1.92171578
125Spastic gait (HP:0002064)1.91557657
126Intellectual disability, moderate (HP:0002342)1.91215012
127Medulloblastoma (HP:0002885)1.90931485
128Lip pit (HP:0100267)1.89981876
129Cutaneous finger syndactyly (HP:0010554)1.88522588
130Volvulus (HP:0002580)1.88393732
131Impaired smooth pursuit (HP:0007772)1.88024726
132Flat cornea (HP:0007720)1.87523060
133Hypoplasia of the thymus (HP:0000778)1.87385936
134Abnormality of the diencephalon (HP:0010662)1.87343593
135Abnormality of chromosome segregation (HP:0002916)1.86774324
136Abnormal hair whorl (HP:0010721)1.86455865
137Vertebral arch anomaly (HP:0008438)1.85375173
138Fair hair (HP:0002286)1.84418133
139Excessive salivation (HP:0003781)1.83471336
140Drooling (HP:0002307)1.83471336
141Cheilitis (HP:0100825)1.82702029
142Atonic seizures (HP:0010819)1.82636276
143Recurrent lower respiratory tract infections (HP:0002783)1.82613055
144Abnormality of male internal genitalia (HP:0000022)1.82589068
145Cellulitis (HP:0100658)1.82094043
146Visual hallucinations (HP:0002367)1.81567014
147Short chin (HP:0000331)1.79344508
148Long eyelashes (HP:0000527)1.78884030
149Joint swelling (HP:0001386)1.78633861
150Myositis (HP:0100614)1.77050537
151Neoplasm of the oral cavity (HP:0100649)1.76817926
152Hypoplastic nipples (HP:0002557)1.76491923
153Obstructive lung disease (HP:0006536)1.75939383
154Chronic obstructive pulmonary disease (HP:0006510)1.75939383
155Hyperventilation (HP:0002883)1.75586089
156Midline defect of the nose (HP:0004122)1.75473716
157Restrictive lung disease (HP:0002091)1.74505830
158Hypobetalipoproteinemia (HP:0003563)1.74312729
159Decreased motor nerve conduction velocity (HP:0003431)1.74029028
160Congenital stationary night blindness (HP:0007642)1.73512674
161Oligodactyly (hands) (HP:0001180)1.72875206
162Genetic anticipation (HP:0003743)1.71873239
163Abnormality of the nasal septum (HP:0000419)1.71096373
164Attention deficit hyperactivity disorder (HP:0007018)1.70288678
165Posterior subcapsular cataract (HP:0007787)1.70095816
166Epistaxis (HP:0000421)1.69435625
167Amaurosis fugax (HP:0100576)1.69160996
168Pulmonary fibrosis (HP:0002206)1.68718380
169Gingivitis (HP:0000230)1.68499294
170Gingival bleeding (HP:0000225)1.67938750
171Increased cerebral lipofuscin (HP:0011813)1.67928429
172Submucous cleft hard palate (HP:0000176)1.67127538
173Protruding tongue (HP:0010808)1.67126952
174Thyroid carcinoma (HP:0002890)1.66969375
175Prominent nose (HP:0000448)1.66785189
176Mask-like facies (HP:0000298)1.65686856
177Intention tremor (HP:0002080)1.63731300
178Dysmetria (HP:0001310)1.63359869
179Truncal ataxia (HP:0002078)1.62824044
180Absence seizures (HP:0002121)1.59694660
181Amyotrophic lateral sclerosis (HP:0007354)1.59192453
182Dysmetric saccades (HP:0000641)1.58404664
183Abnormality of the carotid arteries (HP:0005344)1.57604800
184Cutaneous syndactyly (HP:0012725)1.57211396
185Hemiplegia (HP:0002301)1.57147022
186Decreased number of peripheral myelinated nerve fibers (HP:0003380)1.57141360
187Poor eye contact (HP:0000817)1.56810687
188Broad-based gait (HP:0002136)1.55916139
189Dialeptic seizures (HP:0011146)1.55401857
190Onion bulb formation (HP:0003383)1.55379237
191Impaired vibratory sensation (HP:0002495)1.54934882
192Peripheral hypomyelination (HP:0007182)1.54720260
193Impaired social interactions (HP:0000735)1.54621553
194Abnormal social behavior (HP:0012433)1.54621553
195Thick eyebrow (HP:0000574)1.52600292

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDK124.65225839
2NUAK14.10994121
3FRK3.58989604
4MST43.33632040
5MAP4K13.31575419
6NTRK33.17051338
7MAP3K43.08328516
8AKT32.89966159
9PLK42.74143899
10BLK2.71175342
11BRD42.47484730
12EEF2K2.37159396
13MAP3K92.31914674
14TXK2.10677135
15PRPF4B2.04114900
16CAMK1G1.94057339
17SYK1.93404067
18SIK21.87882206
19TYK21.87696314
20ITK1.83446428
21ICK1.79138666
22IKBKE1.77887715
23BTK1.77309966
24EPHA41.76538934
25SGK31.74473363
26TEC1.71065113
27SIK31.67088661
28SGK21.66795634
29CDC71.65039452
30TNK21.64889324
31TAOK31.61727621
32WNK11.60383564
33IRAK41.54881191
34CAMK1D1.53508419
35JAK31.53319913
36STK381.51363986
37ACVR1B1.45735856
38MARK11.39361691
39PAK61.36415443
40MAPK131.36095893
41MKNK21.29275974
42SGK2231.28340996
43SGK4941.28340996
44GRK61.25716191
45PNCK1.25295865
46CSF1R1.24358319
47MINK11.23023907
48MAP3K141.21401258
49IKBKB1.21259799
50LATS11.20168663
51LMTK21.18417961
52LYN1.15203080
53CDC42BPA1.14959463
54NLK1.13840422
55TYRO31.10956713
56MARK31.10914154
57NEK21.09398047
58NTRK21.08420931
59LCK1.08104692
60TRPM71.07203223
61HCK1.06124299
62ZAP701.04532167
63MAP2K71.03107869
64CASK1.02040991
65ADRBK21.01914682
66SCYL21.01844923
67DAPK21.01286992
68ALK1.01095932
69STK31.01026732
70CHEK11.00872124
71PRKD31.00664450
72MAPK110.99540847
73FGFR20.96109453
74CSK0.94264101
75PRKCH0.92445639
76ATR0.91959275
77PIK3CG0.91532487
78PTK2B0.90081793
79MTOR0.89188360
80TRIM280.87987227
81YES10.85769097
82MARK20.85706161
83CDK50.83613552
84RIPK40.82513231
85OXSR10.81554785
86PASK0.80564476
87KSR10.78355756
88TBK10.78142472
89MAP2K40.78087165
90MAP2K30.77317913
91MAP3K70.76795848
92SGK10.75840699
93UHMK10.74801145
94PHKG20.74686008
95PHKG10.74686008
96DYRK1A0.74535826
97STK100.73528662
98WNK40.72006796
99CCNB10.71760279
100PKN10.71707285
101MAP3K100.71508910
102NEK10.70777221
103NEK60.70738901
104CDK40.68643185
105MKNK10.68422998
106CDK190.66223880
107BMPR1B0.65643613
108KIT0.65279695
109CDK30.65185306
110NTRK10.64747749
111STK390.63925299
112CAMK40.63841734
113RPS6KB10.62765586
114ATM0.62698529
115FES0.62662801
116KSR20.62527362
117LATS20.62371355
118PDGFRB0.62335458
119GSK3B0.62262892
120CDK20.61107547
121MAPK100.61094125
122CSNK1D0.60697439
123MELK0.60654494
124STK110.59671488
125PRKCQ0.59585027
126CHUK0.59483421
127CDK10.59332904
128RPS6KA20.58921822
129IRAK10.56957054
130RIPK10.56556232
131RPS6KA30.56410695
132RET0.55578307
133CHEK20.55501336
134MAP4K20.55152376
135MAPK80.54697893
136MAPK140.53343840
137JAK20.53203361
138ZAK0.53123650
139TNIK0.52871903
140DAPK10.51942345
141PDK10.51717706
142JAK10.50514244
143MAPKAPK30.50312929
144MAPK120.50171678
145PRKDC0.49109805
146MATK0.48488498
147CDK180.48444633
148EIF2AK30.48412686
149TLK10.48010877
150CAMKK10.47517361
151CSNK1E0.47183032
152CDK150.46816723
153PLK20.46771847
154PIM10.45630793
155GRK10.45434862
156FGR0.44945868
157PLK30.44856464
158STK38L0.44479724
159SRPK10.44471539
160CSNK1A1L0.44062701
161MAP3K20.43348882
162PRKCB0.42908452
163BMPR20.41815150
164PRKAA20.39353929
165MAP3K130.38551611
166CSNK1G10.37448991
167CSNK1G30.36624611
168EGFR0.34147135
169MAPK70.33492265
170FGFR30.31670569
171FYN0.30831129
172PRKCI0.27860810

Predicted pathways (KEGG)

RankGene SetZ-score
1Asthma_Homo sapiens_hsa053105.10476376
2Primary immunodeficiency_Homo sapiens_hsa053403.79736190
3Intestinal immune network for IgA production_Homo sapiens_hsa046723.57887876
4Allograft rejection_Homo sapiens_hsa053303.29500605
5Autoimmune thyroid disease_Homo sapiens_hsa053203.18463316
6Graft-versus-host disease_Homo sapiens_hsa053323.15138914
7Type I diabetes mellitus_Homo sapiens_hsa049402.67766905
8Staphylococcus aureus infection_Homo sapiens_hsa051502.53490697
9Nicotine addiction_Homo sapiens_hsa050332.45054023
10Synaptic vesicle cycle_Homo sapiens_hsa047212.35288887
11Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.22516818
12Leishmaniasis_Homo sapiens_hsa051402.16219962
13Antigen processing and presentation_Homo sapiens_hsa046122.16192048
14NF-kappa B signaling pathway_Homo sapiens_hsa040641.88664949
15Olfactory transduction_Homo sapiens_hsa047401.86043469
16Long-term potentiation_Homo sapiens_hsa047201.85316096
17Phosphatidylinositol signaling system_Homo sapiens_hsa040701.77600326
18Circadian entrainment_Homo sapiens_hsa047131.74488284
19Glutamatergic synapse_Homo sapiens_hsa047241.73440687
20Osteoclast differentiation_Homo sapiens_hsa043801.69722960
21Morphine addiction_Homo sapiens_hsa050321.66963498
22Jak-STAT signaling pathway_Homo sapiens_hsa046301.62594024
23Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.59316573
24Tuberculosis_Homo sapiens_hsa051521.57904743
25GABAergic synapse_Homo sapiens_hsa047271.57406010
26Dorso-ventral axis formation_Homo sapiens_hsa043201.56690052
27Type II diabetes mellitus_Homo sapiens_hsa049301.53068365
28Hematopoietic cell lineage_Homo sapiens_hsa046401.51916851
29Measles_Homo sapiens_hsa051621.50395488
30Herpes simplex infection_Homo sapiens_hsa051681.49210061
31Viral myocarditis_Homo sapiens_hsa054161.46762822
32ErbB signaling pathway_Homo sapiens_hsa040121.44827255
33Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.44349643
34Glioma_Homo sapiens_hsa052141.41902055
35Dopaminergic synapse_Homo sapiens_hsa047281.40427607
36Oocyte meiosis_Homo sapiens_hsa041141.35046902
37Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.34953004
38Amphetamine addiction_Homo sapiens_hsa050311.33926678
39Endometrial cancer_Homo sapiens_hsa052131.33303055
40Salivary secretion_Homo sapiens_hsa049701.31958618
41Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.31301007
42Influenza A_Homo sapiens_hsa051641.29780335
43mRNA surveillance pathway_Homo sapiens_hsa030151.28546822
44Inositol phosphate metabolism_Homo sapiens_hsa005621.27868500
45Thyroid hormone signaling pathway_Homo sapiens_hsa049191.25768793
46Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.25564629
47Cholinergic synapse_Homo sapiens_hsa047251.24582203
48Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.20149664
49Toll-like receptor signaling pathway_Homo sapiens_hsa046201.19682167
50Toxoplasmosis_Homo sapiens_hsa051451.17180540
51alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.16810384
52Aldosterone synthesis and secretion_Homo sapiens_hsa049251.14444987
53Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.14385936
54Oxytocin signaling pathway_Homo sapiens_hsa049211.13151754
55Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.12536565
56RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.11595121
57Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.10642987
58Renin secretion_Homo sapiens_hsa049241.09967947
59Taste transduction_Homo sapiens_hsa047421.09502186
60Axon guidance_Homo sapiens_hsa043601.09458177
61Lysine degradation_Homo sapiens_hsa003101.09129185
62Alcoholism_Homo sapiens_hsa050341.08026413
63mTOR signaling pathway_Homo sapiens_hsa041501.07579407
64Insulin secretion_Homo sapiens_hsa049111.07408422
65Gastric acid secretion_Homo sapiens_hsa049711.07060833
66Estrogen signaling pathway_Homo sapiens_hsa049151.04726789
67Non-small cell lung cancer_Homo sapiens_hsa052231.04116656
68Homologous recombination_Homo sapiens_hsa034401.02674838
69GnRH signaling pathway_Homo sapiens_hsa049121.02413165
70NOD-like receptor signaling pathway_Homo sapiens_hsa046211.02412011
71Rheumatoid arthritis_Homo sapiens_hsa053231.01605393
72Phospholipase D signaling pathway_Homo sapiens_hsa040721.01502413
73Phototransduction_Homo sapiens_hsa047441.00267354
74Long-term depression_Homo sapiens_hsa047300.99777342
75Colorectal cancer_Homo sapiens_hsa052100.99168004
76Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.99058364
77Calcium signaling pathway_Homo sapiens_hsa040200.96898970
78Neurotrophin signaling pathway_Homo sapiens_hsa047220.96670768
79Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.95852701
80ABC transporters_Homo sapiens_hsa020100.94353483
81Chronic myeloid leukemia_Homo sapiens_hsa052200.93875002
82Choline metabolism in cancer_Homo sapiens_hsa052310.93643019
83Gap junction_Homo sapiens_hsa045400.92948867
84Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.92837963
85Ether lipid metabolism_Homo sapiens_hsa005650.92475746
86Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.92372235
87cAMP signaling pathway_Homo sapiens_hsa040240.91212283
88MAPK signaling pathway_Homo sapiens_hsa040100.91026852
89Prostate cancer_Homo sapiens_hsa052150.89895111
90Wnt signaling pathway_Homo sapiens_hsa043100.89091194
91Platelet activation_Homo sapiens_hsa046110.88543194
92Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.87024431
93MicroRNAs in cancer_Homo sapiens_hsa052060.86337837
94Hepatitis B_Homo sapiens_hsa051610.84846304
95Epstein-Barr virus infection_Homo sapiens_hsa051690.83981561
96cGMP-PKG signaling pathway_Homo sapiens_hsa040220.83416815
97B cell receptor signaling pathway_Homo sapiens_hsa046620.81109736
98One carbon pool by folate_Homo sapiens_hsa006700.80979601
99Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.79731064
100Melanogenesis_Homo sapiens_hsa049160.79662047
101Hippo signaling pathway_Homo sapiens_hsa043900.79616480
102Serotonergic synapse_Homo sapiens_hsa047260.78368826
103Linoleic acid metabolism_Homo sapiens_hsa005910.77774528
104Non-homologous end-joining_Homo sapiens_hsa034500.77232967
105Regulation of autophagy_Homo sapiens_hsa041400.76811897
106Basal cell carcinoma_Homo sapiens_hsa052170.76675007
107Adherens junction_Homo sapiens_hsa045200.72792926
108Fanconi anemia pathway_Homo sapiens_hsa034600.72792838
109Pancreatic cancer_Homo sapiens_hsa052120.72248178
110Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.71997333
111Legionellosis_Homo sapiens_hsa051340.71867796
112Cell cycle_Homo sapiens_hsa041100.70401732
113Renal cell carcinoma_Homo sapiens_hsa052110.70331340
114Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.70302839
115Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.68894297
116Central carbon metabolism in cancer_Homo sapiens_hsa052300.68854037
117Cocaine addiction_Homo sapiens_hsa050300.68789622
118FoxO signaling pathway_Homo sapiens_hsa040680.68674001
119Endocytosis_Homo sapiens_hsa041440.68072406
120Glycerophospholipid metabolism_Homo sapiens_hsa005640.66942735
121Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.66586480
122TNF signaling pathway_Homo sapiens_hsa046680.65426269
123Glucagon signaling pathway_Homo sapiens_hsa049220.63312563
124Nitrogen metabolism_Homo sapiens_hsa009100.63195177
125Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.62802872
126T cell receptor signaling pathway_Homo sapiens_hsa046600.62027551
127Insulin signaling pathway_Homo sapiens_hsa049100.61921198
128Chemokine signaling pathway_Homo sapiens_hsa040620.61905234
129Melanoma_Homo sapiens_hsa052180.61662990
130Systemic lupus erythematosus_Homo sapiens_hsa053220.61459587
131Lysosome_Homo sapiens_hsa041420.61187008
132Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.60728492
133Hedgehog signaling pathway_Homo sapiens_hsa043400.60556850
134Collecting duct acid secretion_Homo sapiens_hsa049660.59584000
135Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.59493318
136Longevity regulating pathway - mammal_Homo sapiens_hsa042110.59143405
137Notch signaling pathway_Homo sapiens_hsa043300.58970827
138Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.58378308
139Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.58182581
140Tight junction_Homo sapiens_hsa045300.57896757
141Rap1 signaling pathway_Homo sapiens_hsa040150.56087967
142Selenocompound metabolism_Homo sapiens_hsa004500.56085969
143HTLV-I infection_Homo sapiens_hsa051660.55850386
144Glycerolipid metabolism_Homo sapiens_hsa005610.55149501
145RNA degradation_Homo sapiens_hsa030180.54499601
146Pathways in cancer_Homo sapiens_hsa052000.54418960
147Ovarian steroidogenesis_Homo sapiens_hsa049130.54045231
148Regulation of actin cytoskeleton_Homo sapiens_hsa048100.53834505
149Ras signaling pathway_Homo sapiens_hsa040140.53712791
150Carbohydrate digestion and absorption_Homo sapiens_hsa049730.53271696
151Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.51223717
152Prolactin signaling pathway_Homo sapiens_hsa049170.51007617
153Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.50385260
154Acute myeloid leukemia_Homo sapiens_hsa052210.49255251
155Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.47965294
156Sphingolipid signaling pathway_Homo sapiens_hsa040710.45255148
157Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.43665592
158Sphingolipid metabolism_Homo sapiens_hsa006000.41344988
159Tryptophan metabolism_Homo sapiens_hsa003800.41027326
160SNARE interactions in vesicular transport_Homo sapiens_hsa041300.38590598
161Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.38002519
162Other glycan degradation_Homo sapiens_hsa005110.37647587
163Transcriptional misregulation in cancer_Homo sapiens_hsa052020.37621363
164Butanoate metabolism_Homo sapiens_hsa006500.35542479
165Hepatitis C_Homo sapiens_hsa051600.34934136
166Phagosome_Homo sapiens_hsa041450.34499660
167Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.32095630
168Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.32082061
169Pertussis_Homo sapiens_hsa051330.30152702
170Viral carcinogenesis_Homo sapiens_hsa052030.29887445
171Fatty acid degradation_Homo sapiens_hsa000710.29652264
172Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.28726317
173Cyanoamino acid metabolism_Homo sapiens_hsa004600.28628854
174Apoptosis_Homo sapiens_hsa042100.27984743
175Glycosaminoglycan degradation_Homo sapiens_hsa005310.25683418
176Basal transcription factors_Homo sapiens_hsa030220.20944729

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