TRAF3IP2

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 protein involved in regulating responses to cytokines by members of the Rel/NF-kappaB transcription factor family. These factors play a central role in innate immunity in response to pathogens, inflammatory signals and stress. This gene product interacts with TRAF proteins (tumor necrosis factor receptor-associated factors) and either I-kappaB kinase or MAP kinase to activate either NF-kappaB or Jun kinase. Several alternative transcripts encoding different isoforms have been identified. Another transcript, which does not encode a protein and is transcribed in the opposite orientation, has been identified. Overexpression of this transcript has been shown to reduce expression of at least one of the protein encoding transcripts, suggesting it has a regulatory role in the expression of this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)6.35255891
2antigen processing and presentation of endogenous peptide antigen (GO:0002483)6.35255891
3antigen processing and presentation of endogenous antigen (GO:0019883)5.87007269
4positive regulation of gamma-delta T cell activation (GO:0046645)4.81808891
5positive thymic T cell selection (GO:0045059)4.58033986
6positive regulation of defense response to virus by host (GO:0002230)4.45472310
7regulation of vitamin D biosynthetic process (GO:0060556)4.44183031
8positive regulation of heat generation (GO:0031652)4.37967285
9regulation of gamma-delta T cell differentiation (GO:0045586)4.36650395
10ribosomal small subunit assembly (GO:0000028)4.32662517
11cellular response to exogenous dsRNA (GO:0071360)4.30266052
12fucose catabolic process (GO:0019317)4.17808611
13L-fucose metabolic process (GO:0042354)4.17808611
14L-fucose catabolic process (GO:0042355)4.17808611
15thymic T cell selection (GO:0045061)3.99249863
16regulation of gamma-delta T cell activation (GO:0046643)3.94409656
17tryptophan catabolic process (GO:0006569)3.86696218
18indole-containing compound catabolic process (GO:0042436)3.86696218
19indolalkylamine catabolic process (GO:0046218)3.86696218
20positive T cell selection (GO:0043368)3.83729681
21negative T cell selection (GO:0043383)3.81827187
22regulation of heat generation (GO:0031650)3.77009227
23viral transcription (GO:0019083)3.75581179
24negative thymic T cell selection (GO:0045060)3.75543360
25regulation of interleukin-12 biosynthetic process (GO:0045075)3.70904818
26cellular response to ATP (GO:0071318)3.70322522
27T cell selection (GO:0045058)3.67522603
28regulation of vitamin metabolic process (GO:0030656)3.59340176
29kynurenine metabolic process (GO:0070189)3.56719424
30translational termination (GO:0006415)3.56595958
31negative regulation of mast cell activation (GO:0033004)3.54988803
32regulation of T cell tolerance induction (GO:0002664)3.52904138
33negative regulation of telomere maintenance (GO:0032205)3.50102339
34regulation of memory T cell differentiation (GO:0043380)3.44955206
35regulation of fever generation (GO:0031620)3.39904721
36branching involved in labyrinthine layer morphogenesis (GO:0060670)3.38943312
37regulation of chronic inflammatory response (GO:0002676)3.38875518
38positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.38418273
39interferon-gamma production (GO:0032609)3.37911523
40behavioral response to nicotine (GO:0035095)3.36839338
41antigen processing and presentation via MHC class Ib (GO:0002475)3.32448585
42positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.32427655
43COPI coating of Golgi vesicle (GO:0048205)3.32067864
44Golgi transport vesicle coating (GO:0048200)3.32067864
45negative regulation of systemic arterial blood pressure (GO:0003085)3.30530495
46positive regulation of chemokine biosynthetic process (GO:0045080)3.28142683
47SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.27381679
48multicellular organism reproduction (GO:0032504)3.20812906
49response to interleukin-15 (GO:0070672)3.19763516
50positive regulation of T-helper 1 type immune response (GO:0002827)3.19368633
51protein targeting to ER (GO:0045047)3.16425394
52cotranslational protein targeting to membrane (GO:0006613)3.12610773
53regulation of defense response to virus by host (GO:0050691)3.12066687
54translational elongation (GO:0006414)3.11270220
55indolalkylamine metabolic process (GO:0006586)3.06998506
56tryptophan metabolic process (GO:0006568)3.05751987
57regulation of T-helper 1 type immune response (GO:0002825)3.03823514
58phosphatidylinositol acyl-chain remodeling (GO:0036149)3.02288913
59platelet dense granule organization (GO:0060155)3.00889210
60establishment of protein localization to endoplasmic reticulum (GO:0072599)3.00329256
61sulfation (GO:0051923)2.99375476
62desmosome organization (GO:0002934)2.98607579
63NIK/NF-kappaB signaling (GO:0038061)2.97849182
64positive regulation of histone deacetylation (GO:0031065)2.93685709
65positive regulation of tolerance induction (GO:0002645)2.92286463
66hemidesmosome assembly (GO:0031581)2.92263078
67sphingoid metabolic process (GO:0046519)2.92070455
68response to pheromone (GO:0019236)2.91059576
69cellular response to zinc ion (GO:0071294)2.90312439
70protein localization to endoplasmic reticulum (GO:0070972)2.89005535
71hepatocyte apoptotic process (GO:0097284)2.88708043
72negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)2.87554551
73viral life cycle (GO:0019058)2.85795812
74keratinocyte development (GO:0003334)2.85576699
75ribosomal small subunit biogenesis (GO:0042274)2.84759456
76magnesium ion transport (GO:0015693)2.84529454
77nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)2.82401877
78regulation of B cell receptor signaling pathway (GO:0050855)2.81284285
79regulation of MHC class I biosynthetic process (GO:0045343)2.80988468
80cellular response to interleukin-15 (GO:0071350)2.80090259
81sphingosine metabolic process (GO:0006670)2.79230986
82JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)2.79027549
83positive regulation of prostaglandin secretion (GO:0032308)2.78311478
84regulation of respiratory burst (GO:0060263)2.78169563
85keratinocyte proliferation (GO:0043616)2.77477115
86endoderm formation (GO:0001706)2.75960606
87leukocyte aggregation (GO:0070486)2.75392056
88water-soluble vitamin biosynthetic process (GO:0042364)2.75232699
89diol metabolic process (GO:0034311)2.71310016
90regulation of B cell differentiation (GO:0045577)2.71244723
91B cell receptor signaling pathway (GO:0050853)2.69771725
92tolerance induction (GO:0002507)2.68897287
93positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.68365036
94regulation of type I interferon-mediated signaling pathway (GO:0060338)2.67834826
95negative regulation of erythrocyte differentiation (GO:0045647)2.66969649
96interferon-gamma secretion (GO:0072643)2.66840145
97cellular protein complex disassembly (GO:0043624)2.66535611
98regulation of chemokine biosynthetic process (GO:0045073)2.66256859
99maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.65894424
100phosphatidylserine acyl-chain remodeling (GO:0036150)2.65831021
101keratinization (GO:0031424)2.64226628
102mitotic cell cycle arrest (GO:0071850)2.63167868
103establishment of endothelial barrier (GO:0061028)2.62960811
104DNA deamination (GO:0045006)2.62870658
105piRNA metabolic process (GO:0034587)2.62106201
106negative regulation of lipid storage (GO:0010888)2.60163469
107regulation of T-helper 1 cell differentiation (GO:0045625)2.57725469
108preassembly of GPI anchor in ER membrane (GO:0016254)2.57544254
109translational initiation (GO:0006413)2.57111636
110T cell receptor signaling pathway (GO:0050852)2.55074576
111cellular biogenic amine catabolic process (GO:0042402)2.54902015
112amine catabolic process (GO:0009310)2.54902015
113T cell migration (GO:0072678)2.54436627
114regulation of tolerance induction (GO:0002643)2.54314506
115cornea development in camera-type eye (GO:0061303)2.54125804
116regulation of mesoderm development (GO:2000380)2.54122813
117negative regulation of Rho protein signal transduction (GO:0035024)2.53245913
118regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.53142090
119regulation of antigen receptor-mediated signaling pathway (GO:0050854)2.52255709
120antigen receptor-mediated signaling pathway (GO:0050851)2.52150938
121establishment of skin barrier (GO:0061436)2.51979767
122protein retention in ER lumen (GO:0006621)2.51659167
123regulation of T cell receptor signaling pathway (GO:0050856)2.51457282
124regulation of isotype switching to IgG isotypes (GO:0048302)2.51453688
125regulation of action potential (GO:0098900)2.50242188
126regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.49935222
127endothelial tube morphogenesis (GO:0061154)2.49296329
128morphogenesis of an endothelium (GO:0003159)2.49296329
129regulation of immunoglobulin secretion (GO:0051023)2.49170467
130molting cycle (GO:0042303)2.48386494
131hair cycle (GO:0042633)2.48386494
132positive regulation of calcium ion import (GO:0090280)2.47801372
133regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)2.47792200
134epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.47009792
135protein K11-linked deubiquitination (GO:0035871)2.46507123
136regulation of apoptotic process involved in morphogenesis (GO:1902337)2.46308635
137regulation of cytokine secretion involved in immune response (GO:0002739)2.46128417
138positive regulation of respiratory burst (GO:0060267)2.45933520
139regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.45442288
140regulation of hippo signaling (GO:0035330)2.45062334
141maturation of SSU-rRNA (GO:0030490)2.43969747
142UDP-N-acetylglucosamine metabolic process (GO:0006047)2.43917074
143T cell costimulation (GO:0031295)2.43595048
144positive regulation of action potential (GO:0045760)2.42925665
145response to type I interferon (GO:0034340)2.42577791
146lymph node development (GO:0048535)2.42082592
147negative regulation of nitric oxide biosynthetic process (GO:0045019)2.41929148
148protein complex disassembly (GO:0043241)2.41582376
149positive regulation of NF-kappaB import into nucleus (GO:0042346)2.41368098
150positive regulation of protein deacetylation (GO:0090312)2.41091246
151regulation of alpha-beta T cell proliferation (GO:0046640)2.41030200
152antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.39661352
153regulation of response to interferon-gamma (GO:0060330)2.39287335
154detection of light stimulus involved in sensory perception (GO:0050962)2.38904205
155detection of light stimulus involved in visual perception (GO:0050908)2.38904205
156lymphocyte costimulation (GO:0031294)2.38439567
157regulation of natural killer cell activation (GO:0032814)2.38149822
158positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)2.38052618
159trophectodermal cell differentiation (GO:0001829)2.36773559
160Arp2/3 complex-mediated actin nucleation (GO:0034314)2.36564494
161positive regulation of isotype switching (GO:0045830)2.35033581
162snRNA transcription (GO:0009301)2.35002070
1633-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.34231282
164purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.34231282
165positive regulation of fatty acid transport (GO:2000193)2.33682104
166regulation of interferon-gamma-mediated signaling pathway (GO:0060334)2.33475862
167regulation of acrosome reaction (GO:0060046)2.32400588
168parturition (GO:0007567)2.32235545
169positive regulation of immunoglobulin production (GO:0002639)2.32026591
170type I interferon signaling pathway (GO:0060337)2.31739600
171cellular response to type I interferon (GO:0071357)2.31739600
172cellular ketone body metabolic process (GO:0046950)2.31392931
173negative regulation of leukocyte chemotaxis (GO:0002689)2.30730984
174positive regulation of natural killer cell differentiation (GO:0032825)2.30673005
175positive regulation of interleukin-12 production (GO:0032735)2.29619126
176natural killer cell differentiation (GO:0001779)2.29197183
177NAD biosynthetic process (GO:0009435)2.29088299
178positive regulation of interleukin-2 production (GO:0032743)2.28951728
179positive regulation of icosanoid secretion (GO:0032305)2.28455743
180positive regulation of protein kinase C signaling (GO:0090037)2.28244750
181regulation of interferon-alpha production (GO:0032647)2.27213648
182positive regulation of natural killer cell activation (GO:0032816)2.27025327
183negative regulation of phagocytosis (GO:0050765)2.26972810
184DNA methylation involved in gamete generation (GO:0043046)2.25512098
185glomerular filtration (GO:0003094)2.24210033
186natural killer cell activation (GO:0030101)2.22878199
187alpha-beta T cell activation (GO:0046631)2.22708852
188T cell apoptotic process (GO:0070231)2.22679435
189negative regulation of bone resorption (GO:0045779)2.19743810
190macromolecular complex disassembly (GO:0032984)2.19406675
191protein targeting to membrane (GO:0006612)2.18566434
192leukocyte cell-cell adhesion (GO:0007159)2.16949031
193positive regulation of B cell differentiation (GO:0045579)2.16890320
194positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)2.14146659

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human4.39674605
2FOXP3_17237761_ChIP-ChIP_TREG_Mouse4.12117124
3EGR1_19374776_ChIP-ChIP_THP-1_Human3.84625469
4STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.68500547
5IRF8_22096565_ChIP-ChIP_GC-B_Human3.55186798
6NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.20268060
7* MYC_22102868_ChIP-Seq_BL_Human3.20077678
8ZNF274_21170338_ChIP-Seq_K562_Hela2.99784226
9E2F7_22180533_ChIP-Seq_HELA_Human2.70979309
10GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.40059932
11GBX2_23144817_ChIP-Seq_PC3_Human2.39533816
12IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.34366919
13STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.22685383
14MYB_26560356_Chip-Seq_TH2_Human2.20349921
15MAF_26560356_Chip-Seq_TH1_Human2.18436078
16VDR_22108803_ChIP-Seq_LS180_Human2.15855491
17STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.12518130
18VDR_21846776_ChIP-Seq_THP-1_Human2.11698498
19IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.08218781
20FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.03822792
21RUNX_20019798_ChIP-Seq_JUKART_Human2.03505401
22* SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.02143420
23STAT4_19710469_ChIP-ChIP_TH1__Mouse2.02079661
24EZH2_22144423_ChIP-Seq_EOC_Human2.00182522
25* MYB_26560356_Chip-Seq_TH1_Human1.99565628
26UTX_26944678_Chip-Seq_JUKART_Human1.96595270
27ZFP57_27257070_Chip-Seq_ESCs_Mouse1.94674777
28ESR1_21235772_ChIP-Seq_MCF-7_Human1.93081884
29TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.89969283
30MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.89602898
31TCF7_22412390_ChIP-Seq_EML_Mouse1.85590784
32RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.78145670
33GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.71598689
34FLI1_27457419_Chip-Seq_LIVER_Mouse1.70346309
35SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.68727329
36* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.67667802
37ER_23166858_ChIP-Seq_MCF-7_Human1.66229269
38VDR_24763502_ChIP-Seq_THP-1_Human1.65829753
39KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.64092499
40ELK3_25401928_ChIP-Seq_HUVEC_Human1.62221564
41NOTCH1_21737748_ChIP-Seq_TLL_Human1.61645488
42ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.60033572
43SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.57473739
44AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.55685923
45* CJUN_26792858_Chip-Seq_BT549_Human1.54064955
46EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.53538402
47TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.51562122
48TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.50949861
49EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.50863006
50MYB_21317192_ChIP-Seq_ERMYB_Mouse1.50845057
51AHR_22903824_ChIP-Seq_MCF-7_Human1.48530973
52EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.47207948
53PCGF2_27294783_Chip-Seq_ESCs_Mouse1.47086460
54* RARG_19884340_ChIP-ChIP_MEFs_Mouse1.46688144
55CTBP2_25329375_ChIP-Seq_LNCAP_Human1.46549615
56TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.46058647
57TP53_16413492_ChIP-PET_HCT116_Human1.44160635
58RUNX1_22412390_ChIP-Seq_EML_Mouse1.43690436
59KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.43022020
60KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.42991025
61EGR1_23403033_ChIP-Seq_LIVER_Mouse1.42987719
62NR3C1_21868756_ChIP-Seq_MCF10A_Human1.42606947
63NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.41752024
64HIF1A_21447827_ChIP-Seq_MCF-7_Human1.41519183
65RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.40814285
66JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.39784072
67MAF_26560356_Chip-Seq_TH2_Human1.36172900
68* BRD4_27068464_Chip-Seq_AML-cells_Mouse1.35831435
69CLOCK_20551151_ChIP-Seq_293T_Human1.35289205
70KDM2B_26808549_Chip-Seq_SUP-B15_Human1.34080352
71KDM2B_26808549_Chip-Seq_DND41_Human1.34022533
72P300_19829295_ChIP-Seq_ESCs_Human1.33838621
73* SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.32739781
74* SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.32739781
75RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.31973593
76GATA3_27048872_Chip-Seq_THYMUS_Human1.31875980
77PCGF2_27294783_Chip-Seq_NPCs_Mouse1.31822228
78ARNT_22903824_ChIP-Seq_MCF-7_Human1.31288031
79FOXA1_27270436_Chip-Seq_PROSTATE_Human1.31085569
80FOXA1_25329375_ChIP-Seq_VCAP_Human1.31085569
81BCAT_22108803_ChIP-Seq_LS180_Human1.30589859
82CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.30538695
83DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.29581411
84BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.28788957
85* STAT3_23295773_ChIP-Seq_U87_Human1.28724738
86GATA3_21878914_ChIP-Seq_MCF-7_Human1.28615324
87UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.27930180
88AR_25329375_ChIP-Seq_VCAP_Human1.27133119
89SPI1_23547873_ChIP-Seq_NB4_Human1.25320714
90PIAS1_25552417_ChIP-Seq_VCAP_Human1.25187242
91STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.24280366
92FOXM1_23109430_ChIP-Seq_U2OS_Human1.23968067
93SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.23699636
94CDX2_22108803_ChIP-Seq_LS180_Human1.23450630
95POU3F2_20337985_ChIP-ChIP_501MEL_Human1.22780454
96ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.21744430
97FOXA1_21572438_ChIP-Seq_LNCaP_Human1.21429792
98GATA3_26560356_Chip-Seq_TH2_Human1.20954772
99TP63_23658742_ChIP-Seq_EP156T_Human1.20891263
100RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.18362952
101RXR_22108803_ChIP-Seq_LS180_Human1.17938058
102VDR_24787735_ChIP-Seq_THP-1_Human1.17791144
103FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.17058767
104SUZ12_27294783_Chip-Seq_NPCs_Mouse1.16257975
105NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.15886230
106HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.15029077
107CTBP1_25329375_ChIP-Seq_LNCAP_Human1.14662417
108* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.14563345
109TCF4_23295773_ChIP-Seq_U87_Human1.14084918
110ATF3_27146783_Chip-Seq_COLON_Human1.13998383
111SMAD_19615063_ChIP-ChIP_OVARY_Human1.13564494
112NCOR1_26117541_ChIP-Seq_K562_Human1.12518508
113GATA6_25053715_ChIP-Seq_YYC3_Human1.12500646
114CIITA_25753668_ChIP-Seq_RAJI_Human1.12190332
115SCL_19346495_ChIP-Seq_HPC-7_Human1.12176971
116HOXB7_26014856_ChIP-Seq_BT474_Human1.12126565
117* SMAD4_21741376_ChIP-Seq_EPCs_Human1.12118730
118FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.11215724
119FOXO3_23340844_ChIP-Seq_DLD1_Human1.11140410
120FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.11109083
121IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.11042457
122CBP_20019798_ChIP-Seq_JUKART_Human1.11042457
123PRDM14_20953172_ChIP-Seq_ESCs_Human1.11041388
124IRF8_27001747_Chip-Seq_BMDM_Mouse1.10572121
125IRF1_19129219_ChIP-ChIP_H3396_Human1.10157590
126* AR_20517297_ChIP-Seq_VCAP_Human1.09593681
127TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.08787771
128JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.08384674
129RACK7_27058665_Chip-Seq_MCF-7_Human1.07418582
130ELF1_17652178_ChIP-ChIP_JURKAT_Human1.07266561
131NFE2_27457419_Chip-Seq_LIVER_Mouse1.07152635
132PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.06357238
133* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.05929528
134* NANOG_19829295_ChIP-Seq_ESCs_Human1.05565001
135* SOX2_19829295_ChIP-Seq_ESCs_Human1.05565001
136GATA1_22025678_ChIP-Seq_K562_Human1.05538169
137* SOX2_27498859_Chip-Seq_STOMACH_Mouse1.05267091
138STAT6_21828071_ChIP-Seq_BEAS2B_Human1.05087838
139* GATA4_25053715_ChIP-Seq_YYC3_Human1.04408025
140GATA2_22383799_ChIP-Seq_G1ME_Mouse1.04350134
141* EZH2_27294783_Chip-Seq_NPCs_Mouse1.04226388
142KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.04198172
143* SMAD4_21799915_ChIP-Seq_A2780_Human1.03950055
144ETV2_25802403_ChIP-Seq_MESCs_Mouse1.02701899
145* MYC_19079543_ChIP-ChIP_MESCs_Mouse1.02698620
146ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.02683658
147LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.02234549
148* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.01585643
149NANOG_20526341_ChIP-Seq_ESCs_Human1.00795185
150TCF4_22108803_ChIP-Seq_LS180_Human1.00705098
151AUTS2_25519132_ChIP-Seq_293T-REX_Human1.00663135
152STAT3_18555785_Chip-Seq_ESCs_Mouse1.00373668
153* CRX_20693478_ChIP-Seq_RETINA_Mouse1.00365743
154ELK1_22589737_ChIP-Seq_MCF10A_Human1.00265780
155EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.00025040
156MYC_18555785_ChIP-Seq_MESCs_Mouse0.99749396
157STAT3_1855785_ChIP-Seq_MESCs_Mouse0.99604848
158* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.99263805
159* TOP2B_26459242_ChIP-Seq_MCF-7_Human0.99236080
160SMRT_27268052_Chip-Seq_Bcells_Human0.98757138
161NANOG_18555785_Chip-Seq_ESCs_Mouse0.98111758
162RUNX1_27514584_Chip-Seq_MCF-7_Human0.97547669
163SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.96719205
164* FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.96283245
165TP53_18474530_ChIP-ChIP_U2OS_Human0.95813043
166TFEB_21752829_ChIP-Seq_HELA_Human0.95739549
167* EWS_26573619_Chip-Seq_HEK293_Human0.94838780
168* GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.94793521
169TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.94473367
170ESR2_21235772_ChIP-Seq_MCF-7_Human0.94007218
171IRF8_21731497_ChIP-ChIP_J774_Mouse0.93913284
172P53_22387025_ChIP-Seq_ESCs_Mouse0.93479932
173KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.93195877
174LXR_22292898_ChIP-Seq_THP-1_Human0.93099889
175VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.92217595
176TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92151945
177POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.92151945
178FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.92068829
179TRIM28_21343339_ChIP-Seq_HEK293_Human0.91775514
180ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.91561816
181P63_26484246_Chip-Seq_KERATINOCYTES_Human0.90970340
182CDX2_20551321_ChIP-Seq_CACO-2_Human0.90465857
183ELK1_19687146_ChIP-ChIP_HELA_Human0.89811305
184* ERG_20887958_ChIP-Seq_HPC-7_Mouse0.89588451
185SPI1_23127762_ChIP-Seq_K562_Human0.88899222
186TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.87107171
187UBF1/2_26484160_Chip-Seq_HMECs_Human0.86609999

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003195_calcinosis3.82038844
2MP0003763_abnormal_thymus_physiology3.30233866
3MP0010352_gastrointestinal_tract_polyps2.83494267
4MP0004043_abnormal_pH_regulation2.79966931
5MP0003300_gastrointestinal_ulcer2.57873893
6MP0006054_spinal_hemorrhage2.45043806
7MP0003646_muscle_fatigue2.33993148
8MP0002166_altered_tumor_susceptibility2.32139680
9* MP0005387_immune_system_phenotype2.28886259
10* MP0001790_abnormal_immune_system2.28886259
11MP0003950_abnormal_plasma_membrane2.26561434
12MP0002396_abnormal_hematopoietic_system2.23772709
13* MP0000685_abnormal_immune_system2.23048904
14MP0000427_abnormal_hair_cycle2.21448659
15MP0001835_abnormal_antigen_presentation2.20175938
16MP0003705_abnormal_hypodermis_morpholog2.16994650
17* MP0001800_abnormal_humoral_immune2.16440767
18MP0002837_dystrophic_cardiac_calcinosis2.15678652
19MP0001873_stomach_inflammation2.15253065
20MP0001501_abnormal_sleep_pattern2.14885261
21MP0010234_abnormal_vibrissa_follicle2.07118370
22MP0002876_abnormal_thyroid_physiology2.05424813
23MP0009764_decreased_sensitivity_to2.04955616
24MP0000579_abnormal_nail_morphology1.92316088
25MP0009840_abnormal_foam_cell1.91616202
26MP0010155_abnormal_intestine_physiology1.89493486
27MP0002653_abnormal_ependyma_morphology1.81104713
28MP0002006_tumorigenesis1.80723676
29* MP0004947_skin_inflammation1.79672346
30* MP0002452_abnormal_antigen_presenting1.77663080
31MP0008875_abnormal_xenobiotic_pharmacok1.77230231
32MP0005671_abnormal_response_to1.75533379
33MP0004381_abnormal_hair_follicle1.73936627
34* MP0002405_respiratory_system_inflammati1.73447943
35MP0005023_abnormal_wound_healing1.71825983
36MP0003718_maternal_effect1.69928434
37* MP0002420_abnormal_adaptive_immunity1.67633947
38MP0003566_abnormal_cell_adhesion1.67519135
39MP0005410_abnormal_fertilization1.67230967
40* MP0002723_abnormal_immune_serum1.66154520
41MP0000858_altered_metastatic_potential1.65759310
42* MP0001819_abnormal_immune_cell1.64757139
43MP0002398_abnormal_bone_marrow1.64426887
44MP0004808_abnormal_hematopoietic_stem1.62702555
45MP0002877_abnormal_melanocyte_morpholog1.60443023
46MP0000703_abnormal_thymus_morphology1.58000750
47* MP0005000_abnormal_immune_tolerance1.56243170
48MP0000569_abnormal_digit_pigmentation1.55617893
49MP0000490_abnormal_crypts_of1.51398040
50MP0005076_abnormal_cell_differentiation1.49804527
51MP0009785_altered_susceptibility_to1.48616795
52MP0000015_abnormal_ear_pigmentation1.48362368
53MP0000372_irregular_coat_pigmentation1.46169005
54MP0006072_abnormal_retinal_apoptosis1.45570551
55MP0004885_abnormal_endolymph1.44446802
56* MP0000716_abnormal_immune_system1.43431701
57MP0003866_abnormal_defecation1.42474542
58MP0005551_abnormal_eye_electrophysiolog1.41325444
59MP0003436_decreased_susceptibility_to1.40903483
60MP0002139_abnormal_hepatobiliary_system1.40470740
61MP0005379_endocrine/exocrine_gland_phen1.39691379
62MP0009333_abnormal_splenocyte_physiolog1.39615370
63MP0002254_reproductive_system_inflammat1.39293355
64MP0005174_abnormal_tail_pigmentation1.38135841
65MP0002095_abnormal_skin_pigmentation1.37639635
66* MP0002722_abnormal_immune_system1.36160643
67MP0003303_peritoneal_inflammation1.34514767
68MP0003136_yellow_coat_color1.32814083
69MP0001545_abnormal_hematopoietic_system1.32162067
70MP0005397_hematopoietic_system_phenotyp1.32162067
71MP0003011_delayed_dark_adaptation1.32079949
72MP0001348_abnormal_lacrimal_gland1.31488118
73* MP0000689_abnormal_spleen_morphology1.31305280
74MP0005025_abnormal_response_to1.31117186
75MP0003453_abnormal_keratinocyte_physiol1.30789850
76MP0003045_fibrosis1.30742656
77MP0005275_abnormal_skin_tensile1.27911840
78MP0000467_abnormal_esophagus_morphology1.26872067
79MP0002060_abnormal_skin_morphology1.26766463
80MP0005171_absent_coat_pigmentation1.22970468
81MP0002933_joint_inflammation1.20295945
82* MP0002429_abnormal_blood_cell1.17900246
83MP0003091_abnormal_cell_migration1.17745172
84MP0004264_abnormal_extraembryonic_tissu1.16413416
85MP0005389_reproductive_system_phenotype1.15931290
86* MP0001845_abnormal_inflammatory_respons1.15460902
87MP0003279_aneurysm1.12074630
88MP0001919_abnormal_reproductive_system1.11613237
89MP0009278_abnormal_bone_marrow1.11567998
90MP0002163_abnormal_gland_morphology1.10613062
91MP0003941_abnormal_skin_development1.09992081
92MP0000230_abnormal_systemic_arterial1.08760107
93MP0002148_abnormal_hypersensitivity_rea1.07361209
94MP0003693_abnormal_embryo_hatching1.06804288
95* MP0001216_abnormal_epidermal_layer1.05760310
96MP0010386_abnormal_urinary_bladder1.03754159
97MP0005253_abnormal_eye_physiology1.02962192
98MP0001853_heart_inflammation1.01584145
99MP0002019_abnormal_tumor_incidence1.00877338
100MP0002796_impaired_skin_barrier1.00587141
101MP0003183_abnormal_peptide_metabolism1.00472278
102MP0000465_gastrointestinal_hemorrhage1.00205537
103MP0000371_diluted_coat_color1.00167262
104MP0008872_abnormal_physiological_respon1.00119400
105MP0003724_increased_susceptibility_to0.99531320
106MP0005595_abnormal_vascular_smooth0.98577351
107MP0009384_cardiac_valve_regurgitation0.97843851
108MP0001958_emphysema0.97798170
109MP0000477_abnormal_intestine_morphology0.96861967
110MP0008438_abnormal_cutaneous_collagen0.94968110
111MP0004019_abnormal_vitamin_homeostasis0.94801319
112MP0008961_abnormal_basal_metabolism0.94263265
113MP0002009_preneoplasia0.94123800
114MP0005220_abnormal_exocrine_pancreas0.93836264
115MP0002132_abnormal_respiratory_system0.92472319
116MP0005501_abnormal_skin_physiology0.90610383
117MP0008007_abnormal_cellular_replicative0.89725981
118MP0008877_abnormal_DNA_methylation0.89483020
119* MP0002419_abnormal_innate_immunity0.89435726
120MP0010771_integument_phenotype0.89400963
121MP0009765_abnormal_xenobiotic_induced0.89215823
122MP0001542_abnormal_bone_strength0.88586335
123MP0005395_other_phenotype0.88422894
124MP0003806_abnormal_nucleotide_metabolis0.87985980
125MP0003448_altered_tumor_morphology0.87343415
126MP0004510_myositis0.87254195
127MP0003252_abnormal_bile_duct0.86814628
128MP0001533_abnormal_skeleton_physiology0.86208955
129MP0004142_abnormal_muscle_tone0.86025956
130MP0002332_abnormal_exercise_endurance0.85994181
131MP0005360_urolithiasis0.85323985
132MP0001986_abnormal_taste_sensitivity0.85204197
133MP0008469_abnormal_protein_level0.84712876
134MP0005310_abnormal_salivary_gland0.83300724
135MP0010368_abnormal_lymphatic_system0.82307088
136MP0003828_pulmonary_edema0.81908496
137MP0000383_abnormal_hair_follicle0.81604209
138MP0005390_skeleton_phenotype0.80852191
139MP0002098_abnormal_vibrissa_morphology0.79289803
140MP0005075_abnormal_melanosome_morpholog0.79238802
141MP0000470_abnormal_stomach_morphology0.79135879
142MP0006082_CNS_inflammation0.79064142
143MP0000350_abnormal_cell_proliferation0.78551244
144MP0008004_abnormal_stomach_pH0.77572863
145MP0000613_abnormal_salivary_gland0.77344705
146MP0000377_abnormal_hair_follicle0.77264553
147MP0002998_abnormal_bone_remodeling0.77249218
148MP0000537_abnormal_urethra_morphology0.76857398
149MP0005503_abnormal_tendon_morphology0.76685689
150MP0001765_abnormal_ion_homeostasis0.75602084
151MP0002138_abnormal_hepatobiliary_system0.73787030
152MP0010307_abnormal_tumor_latency0.73443951
153MP0001879_abnormal_lymphatic_vessel0.72835876
154MP0002136_abnormal_kidney_physiology0.72433821
155MP0010678_abnormal_skin_adnexa0.72319276
156MP0001191_abnormal_skin_condition0.71648613
157MP0003795_abnormal_bone_structure0.71287285

Predicted human phenotypes

RankGene SetZ-score
1Nasal polyposis (HP:0100582)4.27805417
2Recurrent bronchitis (HP:0002837)4.22583788
3Pancreatic cysts (HP:0001737)3.93368508
4Abnormality of the nasal mucosa (HP:0000433)3.72562317
5Congenital stationary night blindness (HP:0007642)3.47211350
6Molar tooth sign on MRI (HP:0002419)3.45187732
7Abnormality of midbrain morphology (HP:0002418)3.45187732
8Tubular atrophy (HP:0000092)3.41459851
9Congenital sensorineural hearing impairment (HP:0008527)3.39105034
10Chronic otitis media (HP:0000389)3.32910914
11T lymphocytopenia (HP:0005403)3.23746160
12Abnormality of the fingertips (HP:0001211)3.19500453
13Aortic aneurysm (HP:0004942)3.15892679
14IgM deficiency (HP:0002850)3.11689726
15Genetic anticipation (HP:0003743)3.10677615
16Abnormality of T cell number (HP:0011839)3.10427526
17Pustule (HP:0200039)3.01681883
18Milia (HP:0001056)3.00126875
19Bronchitis (HP:0012387)2.94395249
20Abnormality of the renal cortex (HP:0011035)2.93523111
21Chronic sinusitis (HP:0011109)2.87245707
22Nephronophthisis (HP:0000090)2.84449905
23Pancreatic fibrosis (HP:0100732)2.82670375
24Atrophic scars (HP:0001075)2.80906745
25Recurrent viral infections (HP:0004429)2.80112121
26Type II lissencephaly (HP:0007260)2.79067127
27Agammaglobulinemia (HP:0004432)2.78907531
28Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.75537978
29Increased IgE level (HP:0003212)2.74466247
30Gastrointestinal inflammation (HP:0004386)2.72397593
31Erythroderma (HP:0001019)2.70335302
32Rectal prolapse (HP:0002035)2.69964107
33Abnormal delayed hypersensitivity skin test (HP:0002963)2.66370306
34Stomatitis (HP:0010280)2.65590293
35Abnormality of the renal medulla (HP:0100957)2.65249297
36IgA deficiency (HP:0002720)2.64226953
37Protrusio acetabuli (HP:0003179)2.64162376
38Abnormality of T cells (HP:0002843)2.63599748
39Palmoplantar hyperkeratosis (HP:0000972)2.63187834
40Inflammation of the large intestine (HP:0002037)2.62466743
41Onycholysis (HP:0001806)2.61856637
42Chronic hepatic failure (HP:0100626)2.61520424
43Fragile nails (HP:0001808)2.61182950
44Parakeratosis (HP:0001036)2.60833342
45Thrombocytosis (HP:0001894)2.60651132
46True hermaphroditism (HP:0010459)2.60354326
47Conical tooth (HP:0000698)2.60281719
48Thick nail (HP:0001805)2.58426080
49Stomach cancer (HP:0012126)2.57839052
50Gaze-evoked nystagmus (HP:0000640)2.55849315
5111 pairs of ribs (HP:0000878)2.55176580
52Keratoconus (HP:0000563)2.54834403
53Increased corneal curvature (HP:0100692)2.54834403
54Furrowed tongue (HP:0000221)2.54832582
55Pendular nystagmus (HP:0012043)2.52220811
56Emphysema (HP:0002097)2.50753724
57Hypoplasia of the fovea (HP:0007750)2.49233948
58Aplasia/Hypoplasia of the fovea (HP:0008060)2.49233948
59Optic neuritis (HP:0100653)2.48901218
60Retrobulbar optic neuritis (HP:0100654)2.48901218
61Progressive cerebellar ataxia (HP:0002073)2.48046059
62Attenuation of retinal blood vessels (HP:0007843)2.46325697
63Abolished electroretinogram (ERG) (HP:0000550)2.46313520
64Abnormality of nail color (HP:0100643)2.45891918
65Decreased circulating renin level (HP:0003351)2.45612659
66Cellulitis (HP:0100658)2.43364954
67Elevated erythrocyte sedimentation rate (HP:0003565)2.42182507
68Lymphopenia (HP:0001888)2.41971963
69Colitis (HP:0002583)2.40494922
70Palmar hyperkeratosis (HP:0010765)2.40058818
71Abnormality of cells of the lymphoid lineage (HP:0012140)2.37115833
72* Recurrent fungal infections (HP:0002841)2.36367666
73Amelogenesis imperfecta (HP:0000705)2.34689716
74Lip pit (HP:0100267)2.33719671
75Hypoplasia of the uterus (HP:0000013)2.31950566
76Verrucae (HP:0200043)2.31418652
77Papilloma (HP:0012740)2.31418652
78Alopecia of scalp (HP:0002293)2.30884098
79Concave nail (HP:0001598)2.30283448
80Abnormality of the axillary hair (HP:0100134)2.29736674
81Abnormality of secondary sexual hair (HP:0009888)2.29736674
82Abnormal drinking behavior (HP:0030082)2.28938691
83Polydipsia (HP:0001959)2.28938691
84Hyperventilation (HP:0002883)2.26438971
85Cystic liver disease (HP:0006706)2.26065153
86Cerebral aneurysm (HP:0004944)2.25715237
87Large for gestational age (HP:0001520)2.25565370
88Abnormality of the renal collecting system (HP:0004742)2.25119624
89Congenital, generalized hypertrichosis (HP:0004540)2.24650883
90Abnormal hemoglobin (HP:0011902)2.23675422
91Mesangial abnormality (HP:0001966)2.22765310
92Aplasia/hypoplasia of the uterus (HP:0008684)2.22214495
93Aortic dissection (HP:0002647)2.22139964
94Ectropion (HP:0000656)2.22119599
95Myositis (HP:0100614)2.21324379
96Congenital ichthyosiform erythroderma (HP:0007431)2.15757162
97Abnormality of T cell physiology (HP:0011840)2.15672190
98Ureteral stenosis (HP:0000071)2.15131579
99Panhypogammaglobulinemia (HP:0003139)2.14227969
100Bronchiectasis (HP:0002110)2.14030452
101Missing ribs (HP:0000921)2.12046155
102Gastrointestinal stroma tumor (HP:0100723)2.10916130
103Abnormality of the pons (HP:0007361)2.10400486
104Recurrent sinusitis (HP:0011108)2.10007759
105Ureteral obstruction (HP:0006000)2.07861981
106Duplicated collecting system (HP:0000081)2.07820622
107Increased density of long bones (HP:0006392)2.06933413
108Reticulocytopenia (HP:0001896)2.06416304
109Eczematoid dermatitis (HP:0000976)2.05160271
110Decreased electroretinogram (ERG) amplitude (HP:0000654)2.05056844
111Sparse lateral eyebrow (HP:0005338)2.04974178
112Abnormality of B cell number (HP:0010975)2.03984816
113B lymphocytopenia (HP:0010976)2.03984816
114Broad face (HP:0000283)2.03359549
115Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.02474043
116Abnormality of alanine metabolism (HP:0010916)2.02474043
117Hyperalaninemia (HP:0003348)2.02474043
118Progressive inability to walk (HP:0002505)2.02124937
119Clumsiness (HP:0002312)2.01935614
120Dilatation of the ascending aorta (HP:0005111)1.99800429
121Albinism (HP:0001022)1.99227873
122Hypoplasia of the pons (HP:0012110)1.98800380
123Inability to walk (HP:0002540)1.97576395
124Medial flaring of the eyebrow (HP:0010747)1.96233590
125Cervical subluxation (HP:0003308)1.95421894
126Severe muscular hypotonia (HP:0006829)1.95381483
127Chronic diarrhea (HP:0002028)1.95354913
128Autoimmune thrombocytopenia (HP:0001973)1.95338368
129Prostate neoplasm (HP:0100787)1.94319320
130Widely spaced teeth (HP:0000687)1.94169087
131Persistence of primary teeth (HP:0006335)1.93628984
132Abnormality of the fovea (HP:0000493)1.92898601
133Hypoplasia of the thymus (HP:0000778)1.91296957
134Hypoplastic labia majora (HP:0000059)1.90498655
135Periodontitis (HP:0000704)1.89817015
136Basal cell carcinoma (HP:0002671)1.88636199
137* Skin ulcer (HP:0200042)1.88430561
138Abnormality of the gastric mucosa (HP:0004295)1.88262937
139Meningitis (HP:0001287)1.87904278
140Mitral regurgitation (HP:0001653)1.87518136
141Abnormal biliary tract physiology (HP:0012439)1.87497289
142Bile duct proliferation (HP:0001408)1.87497289
143Vacuolated lymphocytes (HP:0001922)1.87125556
144Fair hair (HP:0002286)1.87046495
145Macular degeneration (HP:0000608)1.86662497
146Abnormality of oral frenula (HP:0000190)1.85911558
147Methylmalonic acidemia (HP:0002912)1.84978660
148IgG deficiency (HP:0004315)1.84598239
149Chorioretinal atrophy (HP:0000533)1.84530937
150Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.84265013
151Eosinophilia (HP:0001880)1.83505603
152Optic nerve coloboma (HP:0000588)1.82941340
153Autoimmune hemolytic anemia (HP:0001890)1.80365569
154Interstitial pulmonary disease (HP:0006530)1.79517211
155Poikiloderma (HP:0001029)1.79468753
156Trismus (HP:0000211)1.79414049
157Plantar hyperkeratosis (HP:0007556)1.78845467
158Cerebellar dysplasia (HP:0007033)1.78444285
159Thoracolumbar scoliosis (HP:0002944)1.77783486
160Corneal erosion (HP:0200020)1.75925344
161Adactyly (HP:0009776)1.75286546
162Recurrent cutaneous fungal infections (HP:0011370)1.74888214
163Chronic mucocutaneous candidiasis (HP:0002728)1.74888214
164Colon cancer (HP:0003003)1.74858962
165Generalized hypopigmentation of hair (HP:0011358)1.74420437
166Increased IgM level (HP:0003496)1.73891533
167Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.73639392
168Lymphoma (HP:0002665)1.72593188
169Azoospermia (HP:0000027)1.71798580
170Recurrent otitis media (HP:0000403)1.71711404
171Polyuria (HP:0000103)1.71275869
172Abnormality of glycolipid metabolism (HP:0010969)1.71076253
173Abnormality of glycosphingolipid metabolism (HP:0004343)1.71076253
174Fragile skin (HP:0001030)1.66087539
175Abnormality of the distal phalanges of the toes (HP:0010182)1.63571573
176Long palpebral fissure (HP:0000637)1.61991596
177Vasculitis (HP:0002633)1.61693263
178Multiple enchondromatosis (HP:0005701)1.61380387
179Reduced subcutaneous adipose tissue (HP:0003758)1.61284403
180Orchitis (HP:0100796)1.60653348
181Right ventricular cardiomyopathy (HP:0011663)1.60501914
182* Cheilitis (HP:0100825)1.60086425
183Combined immunodeficiency (HP:0005387)1.59233477
184Hematochezia (HP:0002573)1.58515820
185Ankle contracture (HP:0006466)1.56295000
186Biliary tract neoplasm (HP:0100574)1.55999207
187Osteolytic defects of the phalanges of the hand (HP:0009771)1.55951999
188Osteolytic defects of the hand bones (HP:0009699)1.55951999
189Ulnar bowing (HP:0003031)1.55830600
190Selective tooth agenesis (HP:0001592)1.55596821

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ADRBK23.99681616
2ACVR1B3.83572446
3MAP4K13.57980604
4ERN13.20183412
5BMPR1B3.03302987
6GRK12.82574450
7TLK12.56571333
8MST42.52778374
9STK102.49631845
10ZAK2.48827447
11EEF2K2.46615471
12JAK32.45494045
13MAP3K102.25785649
14NLK2.02308039
15RPS6KA41.96503722
16LRRK21.93704067
17MAP4K21.85819759
18GRK71.84032452
19FGFR41.80692434
20TYK21.73367753
21ZAP701.73245462
22MAPK151.73026703
23FGFR31.72211266
24ITK1.72085914
25SIK11.68983890
26FLT31.68399851
27TXK1.67612367
28IKBKE1.66160973
29GRK61.64799528
30WNK41.60668810
31MAP3K141.59897264
32EPHA21.59530857
33RPS6KB21.57901290
34TBK11.52562276
35NME21.49550838
36PKN21.45735347
37EPHA31.45303271
38BTK1.43831202
39CDK121.42473017
40JAK11.37722545
41FRK1.36997600
42INSRR1.36570190
43MAP3K31.36346624
44DDR21.33476715
45TRIB31.31501612
46MAPKAPK31.28835937
47PIM21.27440222
48PINK11.26249821
49TESK11.25842045
50ADRBK11.20019858
51PIK3CA1.18724497
52TEC1.16399428
53MATK1.16045728
54IRAK11.15215259
55IKBKB1.13825641
56RIPK11.12649966
57EPHB11.08881486
58CSK1.08879353
59TAOK31.08240846
60PTK61.07852913
61CHUK1.07332118
62MAP2K61.06487465
63TTN1.05468343
64TGFBR21.04285649
65TGFBR11.03576965
66CDC42BPA0.98305786
67MARK30.97140097
68OXSR10.96231712
69MUSK0.94804404
70HIPK20.94713442
71IRAK30.94373119
72DMPK0.92788491
73PIM10.92368941
74MET0.92293809
75LCK0.87508011
76HCK0.86369763
77PASK0.83333383
78MAPK130.82908464
79STK390.81933865
80SIK30.81688979
81KIT0.81216484
82FER0.80878556
83CSF1R0.77025253
84MAP2K20.76876613
85ABL20.76289021
86PKN10.75872225
87PRKAA20.75715662
88DAPK20.75643064
89PRKD20.74509038
90PTK2B0.74189337
91WNK30.74078471
92NEK90.73050380
93SYK0.71611636
94NEK20.70634610
95SCYL20.70205659
96PRKCE0.69757517
97LMTK20.68060830
98CDK60.67323597
99IRAK40.67138345
100TAOK10.66615868
101PTK20.66436763
102NUAK10.65339827
103DYRK1B0.65235146
104MAPK70.61050122
105EPHB20.60876730
106MAP3K80.60483636
107STK380.60457315
108SIK20.60150094
109TRPM70.60062092
110MAPKAPK20.59366488
111STK240.59211045
112PDGFRA0.58776300
113AKT30.58028708
114CDK40.58011267
115MAP3K70.56483004
116TNK20.56312850
117MAP3K90.55735507
118MAP2K30.55716011
119STK30.55347753
120PAK20.52470291
121PRKG20.52380188
122PIK3CG0.52325016
123MAP2K10.52134180
124LATS10.50421976
125MOS0.49760564
126TESK20.49510249
127MAPKAPK50.49066892
128MTOR0.47954510
129PRKCI0.47873364
130RPS6KC10.45780866
131RPS6KL10.45780866
132MAPK110.45287042
133ABL10.44877483
134PRKCH0.44609106
135MAP3K130.43903802
136DYRK30.43256427
137RPS6KA60.42845454
138CDK70.42169874
139JAK20.41790047
140CDK90.41243669
141MYLK0.37223612
142CSNK1A10.36690669
143CAMKK20.36548203
144MST1R0.34070817
145IGF1R0.31840089
146LYN0.30349165
147PRKCZ0.30125020
148PRKCQ0.29753943
149TIE10.29224367
150CAMK1D0.27000472
151PRKAA10.26993606
152GSK3A0.26598282
153EIF2AK30.25952064
154PRKACA0.25868040
155EIF2AK20.25237082
156BCKDK0.25058153

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053403.57302173
2alpha-Linolenic acid metabolism_Homo sapiens_hsa005923.23174254
3Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.77386364
4Linoleic acid metabolism_Homo sapiens_hsa005912.59240353
5Antigen processing and presentation_Homo sapiens_hsa046122.44348501
6Asthma_Homo sapiens_hsa053102.36876648
7Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.35104305
8Ribosome_Homo sapiens_hsa030102.30980395
9Intestinal immune network for IgA production_Homo sapiens_hsa046722.24289496
10Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.19663955
11Sulfur metabolism_Homo sapiens_hsa009202.19397382
12NF-kappa B signaling pathway_Homo sapiens_hsa040642.09710707
13Nitrogen metabolism_Homo sapiens_hsa009102.07853673
14Ether lipid metabolism_Homo sapiens_hsa005652.04221565
15Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.02686070
16Measles_Homo sapiens_hsa051621.93835827
17Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.93711238
18T cell receptor signaling pathway_Homo sapiens_hsa046601.88311766
19B cell receptor signaling pathway_Homo sapiens_hsa046621.86054327
20Phototransduction_Homo sapiens_hsa047441.77627944
21Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.69243427
22Tryptophan metabolism_Homo sapiens_hsa003801.68332449
23Rheumatoid arthritis_Homo sapiens_hsa053231.67943205
24Hematopoietic cell lineage_Homo sapiens_hsa046401.64996076
25Leukocyte transendothelial migration_Homo sapiens_hsa046701.62551336
26Selenocompound metabolism_Homo sapiens_hsa004501.62359539
27Viral myocarditis_Homo sapiens_hsa054161.57209057
28Acute myeloid leukemia_Homo sapiens_hsa052211.56768722
29Leishmaniasis_Homo sapiens_hsa051401.52066474
30Type I diabetes mellitus_Homo sapiens_hsa049401.51923537
31Herpes simplex infection_Homo sapiens_hsa051681.47834230
32Ovarian steroidogenesis_Homo sapiens_hsa049131.46297601
33Osteoclast differentiation_Homo sapiens_hsa043801.44390173
34Jak-STAT signaling pathway_Homo sapiens_hsa046301.43596337
35Toxoplasmosis_Homo sapiens_hsa051451.42730420
36Small cell lung cancer_Homo sapiens_hsa052221.39111689
37Adherens junction_Homo sapiens_hsa045201.38709286
38Hepatitis B_Homo sapiens_hsa051611.37039116
39AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.36118064
40Caffeine metabolism_Homo sapiens_hsa002321.34050381
41Chronic myeloid leukemia_Homo sapiens_hsa052201.32790203
42Other glycan degradation_Homo sapiens_hsa005111.32727393
43HTLV-I infection_Homo sapiens_hsa051661.31857884
44Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.31832385
45Apoptosis_Homo sapiens_hsa042101.31557558
46Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.30873675
47Legionellosis_Homo sapiens_hsa051341.30650362
48p53 signaling pathway_Homo sapiens_hsa041151.30373695
49Influenza A_Homo sapiens_hsa051641.28711607
50RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.28606811
51TNF signaling pathway_Homo sapiens_hsa046681.28527085
52Dorso-ventral axis formation_Homo sapiens_hsa043201.27110139
53Mineral absorption_Homo sapiens_hsa049781.26355047
54Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.25282771
55African trypanosomiasis_Homo sapiens_hsa051431.22968409
56Steroid hormone biosynthesis_Homo sapiens_hsa001401.22697810
57Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.21581004
58Transcriptional misregulation in cancer_Homo sapiens_hsa052021.21422508
59Arachidonic acid metabolism_Homo sapiens_hsa005901.20909133
60Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.20105246
61Sphingolipid metabolism_Homo sapiens_hsa006001.19064643
62Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.14680602
63Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.13487248
64Primary bile acid biosynthesis_Homo sapiens_hsa001201.11999275
65Shigellosis_Homo sapiens_hsa051311.10232573
66Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.07771053
67Chemical carcinogenesis_Homo sapiens_hsa052041.07592397
68ABC transporters_Homo sapiens_hsa020101.05162418
69Viral carcinogenesis_Homo sapiens_hsa052031.04591874
70Glycerolipid metabolism_Homo sapiens_hsa005611.01461579
71Thyroid cancer_Homo sapiens_hsa052161.00938238
72Allograft rejection_Homo sapiens_hsa053301.00756604
73Proteoglycans in cancer_Homo sapiens_hsa052051.00615361
74Graft-versus-host disease_Homo sapiens_hsa053321.00172870
75Pancreatic cancer_Homo sapiens_hsa052121.00028634
76Toll-like receptor signaling pathway_Homo sapiens_hsa046200.97821340
77NOD-like receptor signaling pathway_Homo sapiens_hsa046210.96370569
78Epstein-Barr virus infection_Homo sapiens_hsa051690.95895231
79Fat digestion and absorption_Homo sapiens_hsa049750.94469014
80Notch signaling pathway_Homo sapiens_hsa043300.92573569
81Focal adhesion_Homo sapiens_hsa045100.91986191
82Bladder cancer_Homo sapiens_hsa052190.91692053
83Butanoate metabolism_Homo sapiens_hsa006500.90114315
84Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.89627096
85MicroRNAs in cancer_Homo sapiens_hsa052060.89462990
86Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.87892175
87Prostate cancer_Homo sapiens_hsa052150.87801366
88Hepatitis C_Homo sapiens_hsa051600.86912500
89Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.84549771
90Base excision repair_Homo sapiens_hsa034100.83831158
91Colorectal cancer_Homo sapiens_hsa052100.83567938
92Histidine metabolism_Homo sapiens_hsa003400.83480143
93Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.83245190
94Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.82179509
95Basal transcription factors_Homo sapiens_hsa030220.82089904
96Lysosome_Homo sapiens_hsa041420.81624012
97Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.80686030
98Retinol metabolism_Homo sapiens_hsa008300.78925676
99Pathways in cancer_Homo sapiens_hsa052000.76218703
100Insulin resistance_Homo sapiens_hsa049310.74120328
101ECM-receptor interaction_Homo sapiens_hsa045120.72609176
102Platelet activation_Homo sapiens_hsa046110.72505295
103Mismatch repair_Homo sapiens_hsa034300.72150562
104FoxO signaling pathway_Homo sapiens_hsa040680.70439044
105Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.69325078
106N-Glycan biosynthesis_Homo sapiens_hsa005100.68938488
107Malaria_Homo sapiens_hsa051440.68877775
108Endometrial cancer_Homo sapiens_hsa052130.68710955
109Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.68255327
110Prolactin signaling pathway_Homo sapiens_hsa049170.67645965
111Tuberculosis_Homo sapiens_hsa051520.66788239
112Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.64754278
113Hippo signaling pathway_Homo sapiens_hsa043900.64531071
114Chemokine signaling pathway_Homo sapiens_hsa040620.64293348
115Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.64269758
116Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.63600641
117DNA replication_Homo sapiens_hsa030300.62037887
118Vitamin digestion and absorption_Homo sapiens_hsa049770.61957655
119Autoimmune thyroid disease_Homo sapiens_hsa053200.60684609
120Protein digestion and absorption_Homo sapiens_hsa049740.60532204
121Neurotrophin signaling pathway_Homo sapiens_hsa047220.60243488
122Non-homologous end-joining_Homo sapiens_hsa034500.59640980
123Salmonella infection_Homo sapiens_hsa051320.59444171
124Staphylococcus aureus infection_Homo sapiens_hsa051500.58948646
125Maturity onset diabetes of the young_Homo sapiens_hsa049500.58940554
126Spliceosome_Homo sapiens_hsa030400.58600617
127Glycosaminoglycan degradation_Homo sapiens_hsa005310.58181680
128Taste transduction_Homo sapiens_hsa047420.58095853
129Renin-angiotensin system_Homo sapiens_hsa046140.57321682
130mTOR signaling pathway_Homo sapiens_hsa041500.57039049
131VEGF signaling pathway_Homo sapiens_hsa043700.56743982
132Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.56643922
133Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.56640703
134Peroxisome_Homo sapiens_hsa041460.56524600
135Non-small cell lung cancer_Homo sapiens_hsa052230.56397556
136Protein export_Homo sapiens_hsa030600.56290896
137Pertussis_Homo sapiens_hsa051330.56174463
138Homologous recombination_Homo sapiens_hsa034400.55695574
139Amoebiasis_Homo sapiens_hsa051460.55540253
140Basal cell carcinoma_Homo sapiens_hsa052170.55328238
141Regulation of actin cytoskeleton_Homo sapiens_hsa048100.54563261
142TGF-beta signaling pathway_Homo sapiens_hsa043500.54388682
143Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.50162767
144beta-Alanine metabolism_Homo sapiens_hsa004100.50122305
145Cyanoamino acid metabolism_Homo sapiens_hsa004600.49552346
146PI3K-Akt signaling pathway_Homo sapiens_hsa041510.49007047
147Sulfur relay system_Homo sapiens_hsa041220.48679397
148Circadian rhythm_Homo sapiens_hsa047100.48013395
149HIF-1 signaling pathway_Homo sapiens_hsa040660.47732019
150PPAR signaling pathway_Homo sapiens_hsa033200.46840499
151One carbon pool by folate_Homo sapiens_hsa006700.46635227
152Lysine degradation_Homo sapiens_hsa003100.45852669
153RNA polymerase_Homo sapiens_hsa030200.38660773
154Vascular smooth muscle contraction_Homo sapiens_hsa042700.37142752
155Propanoate metabolism_Homo sapiens_hsa006400.36797623
156Pentose and glucuronate interconversions_Homo sapiens_hsa000400.36243959
157Fanconi anemia pathway_Homo sapiens_hsa034600.31696264
158Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.31433636
159Adipocytokine signaling pathway_Homo sapiens_hsa049200.29216873
160Serotonergic synapse_Homo sapiens_hsa047260.28439979
161Pancreatic secretion_Homo sapiens_hsa049720.28272072
162RNA degradation_Homo sapiens_hsa030180.27691221

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