NUB1

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 that functions as a negative regulator of NEDD8, a ubiquitin-like protein that conjugates with cullin family members in order to regulate vital biological events. The protein encoded by this gene regulates the NEDD8 conjugation system post-transcriptionally by recruiting NEDD8 and its conjugates to the proteasome for degradation. This protein interacts with the product of the AIPL1 gene, which is associated with Leber congenital amaurosis, an inherited retinopathy, and mutations in that gene can abolish interaction with this protein, which may contribute to the pathogenesis. This protein is also known to accumulate in Lewy bodies in Parkinson's disease and dementia with Lewy bodies, and in glial cytoplasmic inclusions in multiple system atrophy, with this abnormal accumulation being specific to alpha-synucleinopathy lesions. Alternative splicing of this gene results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1purine nucleobase biosynthetic process (GO:0009113)5.96924224
2type I interferon signaling pathway (GO:0060337)5.31859693
3cellular response to type I interferon (GO:0071357)5.31859693
4response to type I interferon (GO:0034340)5.28583365
5ribosome assembly (GO:0042255)5.18824201
6nucleobase biosynthetic process (GO:0046112)5.16334718
7vitamin transmembrane transport (GO:0035461)5.11674628
8regulation of spindle organization (GO:0090224)5.00468417
9mitotic metaphase plate congression (GO:0007080)4.98177076
10antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.97643420
11positive regulation of gamma-delta T cell activation (GO:0046645)4.92412584
12regulation of attachment of spindle microtubules to kinetochore (GO:0051988)4.76210580
13ribosome biogenesis (GO:0042254)4.61741596
14negative regulation of leukocyte mediated cytotoxicity (GO:0001911)4.51674253
15negative regulation of cell killing (GO:0031342)4.51674253
16regulation of mitotic spindle organization (GO:0060236)4.48492381
17regulation of translational termination (GO:0006449)4.39211125
18positive regulation by symbiont of host defense response (GO:0052509)4.36093008
19modulation by symbiont of host defense response (GO:0052031)4.36093008
20modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.36093008
21modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.36093008
22positive regulation by organism of defense response of other organism involved in symbiotic interact4.36093008
23modulation by symbiont of host immune response (GO:0052553)4.36093008
24regulation of dendritic cell antigen processing and presentation (GO:0002604)4.34924532
25folic acid metabolic process (GO:0046655)4.33517619
26regulation of interferon-beta biosynthetic process (GO:0045357)4.33358145
27regulation of T cell tolerance induction (GO:0002664)4.19008215
28macrophage activation involved in immune response (GO:0002281)4.14462376
29folic acid transport (GO:0015884)4.03477177
30interferon-gamma-mediated signaling pathway (GO:0060333)4.01469335
31regulation of interferon-alpha production (GO:0032647)3.97200131
32regulation of T-helper 1 cell differentiation (GO:0045625)3.96988969
33positive regulation of chromosome segregation (GO:0051984)3.95570807
34T cell migration (GO:0072678)3.94598640
35negative regulation of interleukin-12 production (GO:0032695)3.93700653
36immunoglobulin mediated immune response (GO:0016064)3.91559339
37formation of translation preinitiation complex (GO:0001731)3.90176315
38DNA replication checkpoint (GO:0000076)3.87260873
39positive regulation of interferon-alpha production (GO:0032727)3.86750792
40protein localization to kinetochore (GO:0034501)3.84635324
41response to interferon-alpha (GO:0035455)3.82334970
42T-helper 1 type immune response (GO:0042088)3.77555479
43NIK/NF-kappaB signaling (GO:0038061)3.76708469
44cellular response to interferon-alpha (GO:0035457)3.70819353
45regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.68680317
46regulation of tolerance induction (GO:0002643)3.68143252
47autophagic vacuole assembly (GO:0000045)3.65747882
48detection of other organism (GO:0098543)3.65511470
49response to peptidoglycan (GO:0032494)3.62389700
50metaphase plate congression (GO:0051310)3.60045830
51neutrophil activation involved in immune response (GO:0002283)3.59401177
52nuclear pore organization (GO:0006999)3.58712288
53positive regulation of tolerance induction (GO:0002645)3.57372614
54negative regulation of viral genome replication (GO:0045071)3.56715918
55mitotic nuclear envelope disassembly (GO:0007077)3.56102708
56positive regulation of type 2 immune response (GO:0002830)3.55182947
57detection of bacterium (GO:0016045)3.54453351
58histone H2A monoubiquitination (GO:0035518)3.54068977
59monoubiquitinated protein deubiquitination (GO:0035520)3.51362034
60regulation of gamma-delta T cell activation (GO:0046643)3.50690440
61positive regulation of antigen processing and presentation (GO:0002579)3.49836946
62nuclear envelope disassembly (GO:0051081)3.41912146
63membrane disassembly (GO:0030397)3.41912146
64blastocyst development (GO:0001824)3.40359074
65regulation of antigen processing and presentation (GO:0002577)3.38074739
66intestinal epithelial cell development (GO:0060576)3.37643309
67regulation of translation in response to stress (GO:0043555)3.35077294
68negative regulation of T cell mediated immunity (GO:0002710)3.34194833
69rRNA modification (GO:0000154)3.31388463
70chaperone mediated protein folding requiring cofactor (GO:0051085)3.30907221
71GMP metabolic process (GO:0046037)3.30808739
72production of molecular mediator involved in inflammatory response (GO:0002532)3.30781907
73positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.29944502
74regulation of type 2 immune response (GO:0002828)3.29126668
75response to interferon-beta (GO:0035456)3.26729207
76negative regulation of type 2 immune response (GO:0002829)3.26176207
77protein localization to chromosome, centromeric region (GO:0071459)3.23336855
78defense response to protozoan (GO:0042832)3.23299100
79regulation of alpha-beta T cell proliferation (GO:0046640)3.23266079
80nuclear pore complex assembly (GO:0051292)3.23226178
81natural killer cell activation involved in immune response (GO:0002323)3.22921020
82lung-associated mesenchyme development (GO:0060484)3.22748827
83mitotic sister chromatid segregation (GO:0000070)3.21793305
84positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)3.20806351
85regulation of B cell receptor signaling pathway (GO:0050855)3.17170428
86positive regulation of interferon-gamma biosynthetic process (GO:0045078)3.16924796
87cellular response to interferon-gamma (GO:0071346)3.16643774
88B cell mediated immunity (GO:0019724)3.15672529
89positive regulation of autophagy (GO:0010508)3.15519048
90spindle assembly involved in mitosis (GO:0090307)3.14729303
91CDP-diacylglycerol metabolic process (GO:0046341)3.13776636
92regulation of RNA export from nucleus (GO:0046831)3.13400281
93lymphocyte chemotaxis (GO:0048247)3.12555700
94dendritic cell chemotaxis (GO:0002407)3.11988876
95positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.11862999
96nuclear envelope organization (GO:0006998)3.11763324
97regulation of interleukin-12 production (GO:0032655)3.11386695
98positive regulation of interferon-beta production (GO:0032728)3.11382186
99regulation of regulatory T cell differentiation (GO:0045589)3.10437147
100regulation of G0 to G1 transition (GO:0070316)3.10373748
101lipopolysaccharide-mediated signaling pathway (GO:0031663)3.07907800
102positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)3.07709415
103regulation of T cell mediated cytotoxicity (GO:0001914)3.07155090
104response to host immune response (GO:0052572)3.06810327
105response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.06810327
106positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.06605356
107response to protozoan (GO:0001562)3.05601429
108transcription elongation from RNA polymerase I promoter (GO:0006362)3.05305038
109mitotic G1 DNA damage checkpoint (GO:0031571)3.02886649
110histone H2A ubiquitination (GO:0033522)3.02101617
111detection of external biotic stimulus (GO:0098581)3.01698521
112interferon-gamma secretion (GO:0072643)3.01352536
113positive regulation of defense response to virus by host (GO:0002230)3.01328667
114termination of RNA polymerase I transcription (GO:0006363)3.01016367
115anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.00843806
116transcription from RNA polymerase I promoter (GO:0006360)3.00439454
117* response to interferon-gamma (GO:0034341)2.99948327
118regulation of response to interferon-gamma (GO:0060330)2.99473034
119transcription elongation from RNA polymerase III promoter (GO:0006385)2.99350390
120termination of RNA polymerase III transcription (GO:0006386)2.99350390
121ribonucleoprotein complex biogenesis (GO:0022613)2.99295907
122negative thymic T cell selection (GO:0045060)2.99174616
123regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)2.98963773
124regulation of chromosome segregation (GO:0051983)2.98936065
125defense response to virus (GO:0051607)2.98902783
126maturation of SSU-rRNA (GO:0030490)2.98664121
127positive regulation of NF-kappaB import into nucleus (GO:0042346)2.98557805
128positive regulation of interleukin-17 production (GO:0032740)2.98379358
129positive regulation of T cell mediated cytotoxicity (GO:0001916)2.98233580
130regulation of chronic inflammatory response (GO:0002676)2.98189676
131positive regulation of interleukin-8 biosynthetic process (GO:0045416)2.97980920
132positive regulation of T-helper 1 type immune response (GO:0002827)2.97797094
133germinal center formation (GO:0002467)2.97174845
134positive regulation of alpha-beta T cell proliferation (GO:0046641)2.97109832
135establishment of chromosome localization (GO:0051303)2.97014734
136histone-serine phosphorylation (GO:0035404)2.96440064
137microglial cell activation (GO:0001774)2.96026281
138negative regulation of lymphocyte mediated immunity (GO:0002707)2.95417505
139positive regulation of interleukin-12 production (GO:0032735)2.95174585
140regulation of interferon-gamma-mediated signaling pathway (GO:0060334)2.93383246
141myeloid dendritic cell differentiation (GO:0043011)2.91702098
142regulation of interferon-gamma biosynthetic process (GO:0045072)2.91461234
143negative regulation of inflammatory response to antigenic stimulus (GO:0002862)2.89953504
144regulation of gamma-delta T cell differentiation (GO:0045586)2.89291046
145microtubule cytoskeleton organization involved in mitosis (GO:1902850)2.88726652
146negative T cell selection (GO:0043383)2.88547286
147positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.88395989
148positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)2.87699468
149positive regulation of T-helper cell differentiation (GO:0045624)2.86478115
150transcription initiation from RNA polymerase I promoter (GO:0006361)2.85905913
151cellular response to interferon-beta (GO:0035458)2.85740343
152NADH metabolic process (GO:0006734)2.84571849
153regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.84264803
154negative regulation of innate immune response (GO:0045824)2.83940349
155regulation of RIG-I signaling pathway (GO:0039535)2.82872265
156maturation of 5.8S rRNA (GO:0000460)2.82214777
157spindle checkpoint (GO:0031577)2.82107768
158positive regulation of protein import into nucleus, translocation (GO:0033160)2.82080604
159detection of molecule of bacterial origin (GO:0032490)2.81854328
160positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.79653829
161negative regulation of translational initiation (GO:0045947)2.79207980
162labyrinthine layer development (GO:0060711)2.77966004
163rRNA processing (GO:0006364)2.76841603
164pore complex assembly (GO:0046931)2.75557644
165pantothenate metabolic process (GO:0015939)2.74662673
166mitotic spindle checkpoint (GO:0071174)2.74373370
1677-methylguanosine mRNA capping (GO:0006370)2.72788782
168synaptonemal complex assembly (GO:0007130)2.72623493
169rRNA metabolic process (GO:0016072)2.72186572
170protein localization to chromosome (GO:0034502)2.71939819
171positive regulation of mitotic sister chromatid separation (GO:1901970)2.71878025
172positive regulation of mitotic metaphase/anaphase transition (GO:0045842)2.71878025
173positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)2.71878025
174positive regulation of Cdc42 GTPase activity (GO:0043089)2.71495835
175mitotic G1/S transition checkpoint (GO:0044819)2.69680832
176antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.69644652
177antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.69644652
178inner cell mass cell proliferation (GO:0001833)2.67762283
179regulation of type I interferon-mediated signaling pathway (GO:0060338)2.64666469
180modified amino acid transport (GO:0072337)2.64141473
181antigen processing and presentation of endogenous antigen (GO:0019883)2.63740507
182regulation of translational initiation (GO:0006446)2.63390272
183negative regulation of macroautophagy (GO:0016242)2.62730856
184negative regulation of chromosome segregation (GO:0051985)2.61577799
185peptidyl-threonine dephosphorylation (GO:0035970)2.61084741
186NLS-bearing protein import into nucleus (GO:0006607)2.60525036
187regulation of exit from mitosis (GO:0007096)2.60136356
188regulation of mitotic metaphase/anaphase transition (GO:0030071)2.59618577
189G1 DNA damage checkpoint (GO:0044783)2.58429290
190RNA capping (GO:0036260)2.56956003
1917-methylguanosine RNA capping (GO:0009452)2.56956003
192mitotic spindle assembly checkpoint (GO:0007094)2.56920583
193IMP biosynthetic process (GO:0006188)2.54989062
194trophectodermal cell differentiation (GO:0001829)2.53515177

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* IRF1_21803131_ChIP-Seq_MONOCYTES_Human5.31480987
2E2F7_22180533_ChIP-Seq_HELA_Human4.74010180
3FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.76334029
4FOXM1_23109430_ChIP-Seq_U2OS_Human3.67142258
5E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.50684328
6STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.33150930
7* IRF8_27001747_Chip-Seq_BMDM_Mouse3.16384955
8BP1_19119308_ChIP-ChIP_Hs578T_Human3.14093993
9* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.91873120
10* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.89821621
11* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.87232141
12STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.76550958
13STAT4_19710469_ChIP-ChIP_TH1__Mouse2.73910451
14EGR1_19374776_ChIP-ChIP_THP-1_Human2.73564989
15CREB1_15753290_ChIP-ChIP_HEK293T_Human2.69651821
16MYC_18555785_ChIP-Seq_MESCs_Mouse2.62457189
17ETS1_20019798_ChIP-Seq_JURKAT_Human2.59262605
18EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.56545894
19MYC_19079543_ChIP-ChIP_MESCs_Mouse2.50691804
20GATA1_22025678_ChIP-Seq_K562_Human2.49965630
21JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.49625104
22MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.39648106
23GABP_17652178_ChIP-ChIP_JURKAT_Human2.19772317
24RUNX_20019798_ChIP-Seq_JUKART_Human2.14097005
25SMAD_19615063_ChIP-ChIP_OVARY_Human2.08959152
26ZNF263_19887448_ChIP-Seq_K562_Human2.04628712
27NANOG_18555785_ChIP-Seq_MESCs_Mouse2.03251727
28SPI1_23127762_ChIP-Seq_K562_Human2.02624820
29EST1_17652178_ChIP-ChIP_JURKAT_Human2.02179242
30IRF8_21731497_ChIP-ChIP_J774_Mouse2.00975585
31E2F4_17652178_ChIP-ChIP_JURKAT_Human2.00196267
32VDR_23849224_ChIP-Seq_CD4+_Human1.96861688
33* MYC_18358816_ChIP-ChIP_MESCs_Mouse1.96602489
34FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.96012459
35* MYC_19030024_ChIP-ChIP_MESCs_Mouse1.95419749
36Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.94472898
37KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.93780822
38MYC_22102868_ChIP-Seq_BL_Human1.93249141
39AR_21909140_ChIP-Seq_LNCAP_Human1.90251621
40NELFA_20434984_ChIP-Seq_ESCs_Mouse1.86912222
41POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.85628022
42VDR_24763502_ChIP-Seq_THP-1_Human1.83599220
43POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.80773089
44FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.80074822
45* XRN2_22483619_ChIP-Seq_HELA_Human1.78232366
46KDM5A_27292631_Chip-Seq_BREAST_Human1.77398897
47E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.76188104
48* RUNX1_22412390_ChIP-Seq_EML_Mouse1.75902176
49BRD4_27068464_Chip-Seq_AML-cells_Mouse1.74863268
50* RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.73649026
51STAT3_1855785_ChIP-Seq_MESCs_Mouse1.72746425
52GABP_19822575_ChIP-Seq_HepG2_Human1.71539293
53NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.68517580
54CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.67094317
55KLF4_18555785_ChIP-Seq_MESCs_Mouse1.66327661
56ELF1_17652178_ChIP-ChIP_JURKAT_Human1.63389839
57STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.61276899
58* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.60362037
59SCL_19346495_ChIP-Seq_HPC-7_Human1.59761087
60MYCN_18555785_ChIP-Seq_MESCs_Mouse1.56715173
61NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.53728523
62SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.49288878
63UTX_26944678_Chip-Seq_JUKART_Human1.47844118
64IRF8_22096565_ChIP-ChIP_GC-B_Human1.47587481
65KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.47334135
66NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.46856872
67GATA3_27048872_Chip-Seq_THYMUS_Human1.43183558
68MAF_26560356_Chip-Seq_TH2_Human1.42047053
69TFEB_21752829_ChIP-Seq_HELA_Human1.41700562
70MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.40557968
71NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.40344775
72CIITA_25753668_ChIP-Seq_RAJI_Human1.39951800
73ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.39001047
74* CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.38289579
75E2F1_18555785_ChIP-Seq_MESCs_Mouse1.38144947
76FOXP3_21729870_ChIP-Seq_TREG_Human1.37724895
77SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.37650779
78GATA3_26560356_Chip-Seq_TH2_Human1.37580324
79* GATA2_22383799_ChIP-Seq_G1ME_Mouse1.36369462
80VDR_24787735_ChIP-Seq_THP-1_Human1.35224518
81* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.32573632
82YY1_21170310_ChIP-Seq_MESCs_Mouse1.32375485
83DCP1A_22483619_ChIP-Seq_HELA_Human1.29428281
84E2F1_21310950_ChIP-Seq_MCF-7_Human1.29233172
85CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.29125644
86* CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.29088855
87PU_27001747_Chip-Seq_BMDM_Mouse1.28729596
88SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.25574474
89GATA1_19941826_ChIP-Seq_K562_Human1.25299517
90PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.23963140
91* CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.22844818
92DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.22711115
93* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.21696746
94TCF7_22412390_ChIP-Seq_EML_Mouse1.20817394
95VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.20648042
96* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.20349729
97IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.19782582
98GATA1_22383799_ChIP-Seq_G1ME_Mouse1.18566851
99SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.18052471
100CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.17624161
101NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.16683960
102LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.16643955
103* GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.15088860
104GATA1_19941827_ChIP-Seq_MEL_Mouse1.15004148
105NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.14729803
106TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.13996785
107PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.13567371
108SALL1_21062744_ChIP-ChIP_HESCs_Human1.13367584
109MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.13302527
110TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.12862660
111CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.12229982
112SPI1_23547873_ChIP-Seq_NB4_Human1.11789464
113NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.09574895
114KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.09134064
115FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.08197049
116NANOG_21062744_ChIP-ChIP_HESCs_Human1.08175552
117TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.07996930
118CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.06378719
119LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.06043985
120PPARA_22158963_ChIP-Seq_LIVER_Mouse1.05514166
121THAP11_20581084_ChIP-Seq_MESCs_Mouse1.05198682
122* SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.05136576
123TTF2_22483619_ChIP-Seq_HELA_Human1.04704966
124ATF3_27146783_Chip-Seq_COLON_Human1.04343441
125YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.04310655
126* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.03268257
127* MYB_21317192_ChIP-Seq_ERMYB_Mouse1.03121827
128EGR1_19032775_ChIP-ChIP_M12_Human1.02224378
129GATA2_21666600_ChIP-Seq_HMVEC_Human1.01752827
130RXR_22158963_ChIP-Seq_LIVER_Mouse1.01498251
131STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.01084456
132* PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.01023188
133MYB_26560356_Chip-Seq_TH1_Human1.01016132
134HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.00788938
135ELK3_25401928_ChIP-Seq_HUVEC_Human1.00700936
136GATA2_19941826_ChIP-Seq_K562_Human1.00692316
137ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.00527308
138ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.99769116
139KDM2B_26808549_Chip-Seq_SUP-B15_Human0.99738209
140* TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.98584031
141MAF_26560356_Chip-Seq_TH1_Human0.98419356
142PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.97586500
143KDM2B_26808549_Chip-Seq_DND41_Human0.96536383
144OCT4_18692474_ChIP-Seq_MEFs_Mouse0.94616604
145VDR_21846776_ChIP-Seq_THP-1_Human0.94396070
146MECOM_23826213_ChIP-Seq_KASUMI_Mouse0.94121204
147ELK1_19687146_ChIP-ChIP_HELA_Human0.92800754
148* SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.92794859
149* KAP1_27257070_Chip-Seq_ESCs_Mouse0.92557561
150* FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.92443178
151* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.91664276
152BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.91619300
153NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.90652288
154ELK1_22589737_ChIP-Seq_MCF10A_Human0.89821271
155PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.89787518
156NCOR1_26117541_ChIP-Seq_K562_Human0.89369060
157ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.88834457
158STAT1_20625510_ChIP-Seq_HELA_Human0.88685304
159TCF3_18692474_ChIP-Seq_MEFs_Mouse0.88677640
160KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.88181975
161BCL6_27268052_Chip-Seq_Bcells_Human0.87799107
162* TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.87218841
163E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.87205786
164BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.85905825
165PADI4_21655091_ChIP-ChIP_MCF-7_Human0.85855518
166MYB_26560356_Chip-Seq_TH2_Human0.85174363
167LXR_22158963_ChIP-Seq_LIVER_Mouse0.83295888
168TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.83126954
169GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.82422898
170EGR1_23403033_ChIP-Seq_LIVER_Mouse0.82345602
171PU.1_20513432_ChIP-Seq_Bcells_Mouse0.81886873
172BCOR_27268052_Chip-Seq_Bcells_Human0.81487407
173FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.80450655
174KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.78774843
175KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.78050489

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching5.32622191
2MP0003111_abnormal_nucleus_morphology3.95493262
3MP0003724_increased_susceptibility_to3.81681357
4MP0008260_abnormal_autophagy3.67116400
5MP0009840_abnormal_foam_cell3.34012855
6MP0004957_abnormal_blastocyst_morpholog3.17215697
7MP0003077_abnormal_cell_cycle3.07201129
8MP0010307_abnormal_tumor_latency2.83021787
9MP0010094_abnormal_chromosome_stability2.73423653
10MP0003718_maternal_effect2.63310603
11MP0005058_abnormal_lysosome_morphology2.35683839
12MP0008057_abnormal_DNA_replication2.20830577
13MP0001730_embryonic_growth_arrest2.19573111
14MP0010155_abnormal_intestine_physiology2.15936413
15MP0003300_gastrointestinal_ulcer2.01294806
16MP0005076_abnormal_cell_differentiation1.96787108
17MP0003123_paternal_imprinting1.96392843
18MP0009333_abnormal_splenocyte_physiolog1.93593713
19MP0000350_abnormal_cell_proliferation1.93134282
20MP0008058_abnormal_DNA_repair1.90124006
21MP0003763_abnormal_thymus_physiology1.90040006
22MP0008007_abnormal_cellular_replicative1.89356891
23MP0002139_abnormal_hepatobiliary_system1.87429342
24MP0003786_premature_aging1.81970657
25MP0001835_abnormal_antigen_presentation1.81192650
26MP0005310_abnormal_salivary_gland1.78385585
27MP0001545_abnormal_hematopoietic_system1.77550031
28MP0005397_hematopoietic_system_phenotyp1.77550031
29MP0003303_peritoneal_inflammation1.76772852
30MP0001533_abnormal_skeleton_physiology1.75082871
31MP0008469_abnormal_protein_level1.73141101
32MP0010352_gastrointestinal_tract_polyps1.65983621
33MP0005380_embryogenesis_phenotype1.64850661
34MP0001672_abnormal_embryogenesis/_devel1.64850661
35MP0003806_abnormal_nucleotide_metabolis1.64259596
36MP0009764_decreased_sensitivity_to1.64246115
37MP0005671_abnormal_response_to1.54097129
38MP0008877_abnormal_DNA_methylation1.52418746
39MP0003221_abnormal_cardiomyocyte_apopto1.49991278
40MP0003984_embryonic_growth_retardation1.49675750
41MP0001873_stomach_inflammation1.48649668
42MP0004947_skin_inflammation1.47462904
43MP0002088_abnormal_embryonic_growth/wei1.47032428
44MP0006082_CNS_inflammation1.42836793
45MP0000685_abnormal_immune_system1.41884712
46MP0002138_abnormal_hepatobiliary_system1.41189628
47MP0003656_abnormal_erythrocyte_physiolo1.41108331
48MP0005621_abnormal_cell_physiology1.37963977
49MP0002396_abnormal_hematopoietic_system1.37556555
50MP0002080_prenatal_lethality1.37402179
51MP0003183_abnormal_peptide_metabolism1.35312637
52MP0003448_altered_tumor_morphology1.33245700
53MP0001697_abnormal_embryo_size1.31255853
54MP0001800_abnormal_humoral_immune1.28568729
55MP0002452_abnormal_antigen_presenting1.28003098
56MP0002398_abnormal_bone_marrow1.26543227
57MP0005166_decreased_susceptibility_to1.25807982
58MP0002723_abnormal_immune_serum1.25406969
59MP0003866_abnormal_defecation1.24652346
60MP0008932_abnormal_embryonic_tissue1.24130067
61MP0009278_abnormal_bone_marrow1.23087043
62MP0005464_abnormal_platelet_physiology1.22309991
63MP0004510_myositis1.22071099
64MP0002086_abnormal_extraembryonic_tissu1.20933016
65MP0001851_eye_inflammation1.19191686
66MP0002722_abnormal_immune_system1.18738451
67MP0000313_abnormal_cell_death1.18303777
68MP0002332_abnormal_exercise_endurance1.18097880
69MP0003075_altered_response_to1.18016926
70MP0005000_abnormal_immune_tolerance1.17629573
71MP0003436_decreased_susceptibility_to1.17563219
72MP0002998_abnormal_bone_remodeling1.15940832
73MP0000343_altered_response_to1.15822075
74MP0004808_abnormal_hematopoietic_stem1.15719477
75MP0005384_cellular_phenotype1.15429584
76MP0002019_abnormal_tumor_incidence1.14950563
77MP0002653_abnormal_ependyma_morphology1.14604544
78MP0001819_abnormal_immune_cell1.14272967
79MP0003878_abnormal_ear_physiology1.14267926
80MP0005377_hearing/vestibular/ear_phenot1.14267926
81MP0000689_abnormal_spleen_morphology1.14052416
82MP0005164_abnormal_response_to1.13956443
83MP0000716_abnormal_immune_system1.11934467
84MP0002420_abnormal_adaptive_immunity1.11494070
85MP0003566_abnormal_cell_adhesion1.11230751
86MP0001661_extended_life_span1.08006623
87MP0000358_abnormal_cell_content/1.07389427
88MP0000750_abnormal_muscle_regeneration1.06261582
89MP0005451_abnormal_body_composition1.05144783
90MP0009763_increased_sensitivity_to1.04393338
91MP0001790_abnormal_immune_system1.03320186
92MP0005387_immune_system_phenotype1.03320186
93MP0005395_other_phenotype1.02565740
94MP0004883_abnormal_blood_vessel1.01131141
95MP0009785_altered_susceptibility_to1.00819018
96MP0003705_abnormal_hypodermis_morpholog1.00229210
97MP0002429_abnormal_blood_cell0.99167908
98MP0000604_amyloidosis0.98833901
99MP0002877_abnormal_melanocyte_morpholog0.97253535
100MP0001756_abnormal_urination0.97094805
101MP0003453_abnormal_keratinocyte_physiol0.96935893
102MP0005360_urolithiasis0.96444573
103MP0001542_abnormal_bone_strength0.95754822
104MP0000858_altered_metastatic_potential0.95591980
105MP0002419_abnormal_innate_immunity0.94588511
106MP0000627_abnormal_mammary_gland0.94397170
107MP0002132_abnormal_respiratory_system0.94376452
108MP0002277_abnormal_respiratory_mucosa0.93336521
109MP0002084_abnormal_developmental_patter0.93038651
110MP0002006_tumorigenesis0.92636064
111MP0010234_abnormal_vibrissa_follicle0.92081932
112MP0005025_abnormal_response_to0.91505421
113MP0002085_abnormal_embryonic_tissue0.89617617
114MP0001849_ear_inflammation0.88346926
115MP0008004_abnormal_stomach_pH0.87201984
116MP0000703_abnormal_thymus_morphology0.86366389
117MP0003172_abnormal_lysosome_physiology0.85970781
118MP0003329_amyloid_beta_deposits0.82867635
119MP0002166_altered_tumor_susceptibility0.82470112
120MP0003191_abnormal_cellular_cholesterol0.82135819
121MP0002405_respiratory_system_inflammati0.81827023
122MP0003690_abnormal_glial_cell0.80975589
123MP0009765_abnormal_xenobiotic_induced0.80602378
124MP0002210_abnormal_sex_determination0.80218067
125MP0002148_abnormal_hypersensitivity_rea0.79638618
126MP0000609_abnormal_liver_physiology0.79588489
127MP0001663_abnormal_digestive_system0.77431868
128MP0003045_fibrosis0.77361076
129MP0002163_abnormal_gland_morphology0.75702829
130MP0001929_abnormal_gametogenesis0.75660454
131MP0001845_abnormal_inflammatory_respons0.75506063
132MP0001348_abnormal_lacrimal_gland0.75283600
133MP0003828_pulmonary_edema0.73474037
134MP0003195_calcinosis0.73289514
135MP0000490_abnormal_crypts_of0.73096247
136MP0004197_abnormal_fetal_growth/weight/0.73025171
137MP0005365_abnormal_bile_salt0.71408336
138MP0002254_reproductive_system_inflammat0.71016527
139MP0001853_heart_inflammation0.70955156
140MP0005319_abnormal_enzyme/_coenzyme0.70599088
141MP0005666_abnormal_adipose_tissue0.70264274
142MP0002693_abnormal_pancreas_physiology0.63467394
143MP0004019_abnormal_vitamin_homeostasis0.63429638
144MP0005376_homeostasis/metabolism_phenot0.62686207
145MP0003795_abnormal_bone_structure0.62553376
146MP0003091_abnormal_cell_migration0.61914496
147MP0000249_abnormal_blood_vessel0.61277185
148MP0008874_decreased_physiological_sensi0.60770801
149MP0005584_abnormal_enzyme/coenzyme_acti0.60712714
150MP0000465_gastrointestinal_hemorrhage0.60657768
151MP0005390_skeleton_phenotype0.60482896

Predicted human phenotypes

RankGene SetZ-score
1Gastrointestinal infarctions (HP:0005244)5.15586890
2Orchitis (HP:0100796)4.65054157
3Optic neuritis (HP:0100653)4.62343656
4Retrobulbar optic neuritis (HP:0100654)4.62343656
5Myositis (HP:0100614)4.48849764
6Birth length less than 3rd percentile (HP:0003561)4.08540896
7Impulsivity (HP:0100710)4.03626563
8Carpal bone hypoplasia (HP:0001498)4.01168660
9Increased IgM level (HP:0003496)4.00397730
10Abnormal delayed hypersensitivity skin test (HP:0002963)3.96863721
11Breast hypoplasia (HP:0003187)3.95036221
12Pustule (HP:0200039)3.87060920
13Vasculitis (HP:0002633)3.83927134
14Cerebral hypomyelination (HP:0006808)3.83777644
15Mediastinal lymphadenopathy (HP:0100721)3.75567993
16Elevated erythrocyte sedimentation rate (HP:0003565)3.74806889
17Stomatitis (HP:0010280)3.72037475
18Entropion (HP:0000621)3.66998261
19Abnormality of T cell number (HP:0011839)3.66220013
20Hyperglycinemia (HP:0002154)3.52944962
21Autoimmune hemolytic anemia (HP:0001890)3.39756093
22Multiple enchondromatosis (HP:0005701)3.39671592
23Recurrent viral infections (HP:0004429)3.37089112
24T lymphocytopenia (HP:0005403)3.34915502
25Pulmonary infiltrates (HP:0002113)3.31947613
26Bundle branch block (HP:0011710)3.29568392
27Malnutrition (HP:0004395)3.28721925
28Recurrent gram-negative bacterial infections (HP:0005420)3.28282178
29Tetraplegia (HP:0002445)3.27799716
30Systemic lupus erythematosus (HP:0002725)3.27702230
31Keratoconjunctivitis sicca (HP:0001097)3.26066864
32Atrioventricular block (HP:0001678)3.23230110
33Abnormality of the anterior horn cell (HP:0006802)3.22379583
34Degeneration of anterior horn cells (HP:0002398)3.22379583
35Encephalitis (HP:0002383)3.21109585
36Meningitis (HP:0001287)3.17789598
37Ventricular fibrillation (HP:0001663)3.15025454
38Hemoptysis (HP:0002105)3.14998337
39Colitis (HP:0002583)3.12224974
40Recurrent skin infections (HP:0001581)3.11629197
41Gout (HP:0001997)3.06628031
42Recurrent cutaneous fungal infections (HP:0011370)3.03983926
43Chronic mucocutaneous candidiasis (HP:0002728)3.03983926
44Obstructive lung disease (HP:0006536)3.02379391
45Chronic obstructive pulmonary disease (HP:0006510)3.02379391
46Personality changes (HP:0000751)3.01534174
47Keratoconjunctivitis (HP:0001096)2.98969138
48Anorexia (HP:0002039)2.96548685
49Hyperglycinuria (HP:0003108)2.93521551
50Rough bone trabeculation (HP:0100670)2.92619179
51Gingivitis (HP:0000230)2.91776715
52Spinal muscular atrophy (HP:0007269)2.90103939
53Urticaria (HP:0001025)2.88561642
54Abnormality of the labia minora (HP:0012880)2.80385379
55Mutism (HP:0002300)2.79894277
56Abnormality of T cells (HP:0002843)2.79547192
57Hypergammaglobulinemia (HP:0010702)2.79186079
58Osteolytic defects of the hand bones (HP:0009699)2.79018646
59Osteolytic defects of the phalanges of the hand (HP:0009771)2.79018646
60Granulocytopenia (HP:0001913)2.78336108
61Leukocytosis (HP:0001974)2.74151374
62Patellar aplasia (HP:0006443)2.73216629
63Dysautonomia (HP:0002459)2.73139840
64Gastrointestinal stroma tumor (HP:0100723)2.72705182
65Aplasia/Hypoplasia of the patella (HP:0006498)2.72688767
66Inflammation of the large intestine (HP:0002037)2.71784781
67Chest pain (HP:0100749)2.71167214
68Ureteral duplication (HP:0000073)2.70161945
69Global brain atrophy (HP:0002283)2.68257183
70Fatigue (HP:0012378)2.66831860
71Abnormality of the umbilical cord (HP:0010881)2.65695452
72Abnormality of glycolipid metabolism (HP:0010969)2.64303592
73Abnormality of liposaccharide metabolism (HP:0010968)2.64303592
74Abnormality of glycosphingolipid metabolism (HP:0004343)2.64303592
75Eosinophilia (HP:0001880)2.64019067
76Gastrointestinal inflammation (HP:0004386)2.62823659
77Atrophy/Degeneration involving motor neurons (HP:0007373)2.62794937
78Hypertensive crisis (HP:0100735)2.60038593
79Increased IgE level (HP:0003212)2.59319863
80Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.59273604
81Gangrene (HP:0100758)2.59059366
82Arterial thrombosis (HP:0004420)2.56296094
83Abnormality of T cell physiology (HP:0011840)2.56012080
84Difficulty climbing stairs (HP:0003551)2.55220799
85Abnormal neuron morphology (HP:0012757)2.51527567
86Abnormality of the motor neurons (HP:0002450)2.51527567
87Increased serum ferritin (HP:0003281)2.50331536
88Vacuolated lymphocytes (HP:0001922)2.49493361
89Progressive muscle weakness (HP:0003323)2.48336750
90Pelvic girdle muscle weakness (HP:0003749)2.47503237
91CNS hypomyelination (HP:0003429)2.47231100
92Premature ovarian failure (HP:0008209)2.45196914
93Areflexia of lower limbs (HP:0002522)2.44702590
94Joint swelling (HP:0001386)2.44168447
95Prominent nose (HP:0000448)2.41351443
96Abnormality of eosinophils (HP:0001879)2.39150922
97Spontaneous hematomas (HP:0007420)2.38360022
98Hypochromic anemia (HP:0001931)2.37752144
99Osteomyelitis (HP:0002754)2.35144043
100Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.34182380
101Abnormality of the distal phalanges of the toes (HP:0010182)2.34164311
102Hypoplasia of the capital femoral epiphysis (HP:0003090)2.33030948
103Loss of speech (HP:0002371)2.32286664
104Muscle fiber splitting (HP:0003555)2.31726296
105Glucose intolerance (HP:0000833)2.30620915
106Abnormality of the lower motor neuron (HP:0002366)2.30475144
107Segmental peripheral demyelination/remyelination (HP:0003481)2.29515374
108Spastic tetraparesis (HP:0001285)2.28577260
109Abnormality of macrophages (HP:0004311)2.26868092
110Abnormality of cells of the lymphoid lineage (HP:0012140)2.26796433
111Chronic diarrhea (HP:0002028)2.25765901
112Abnormality of the endocardium (HP:0004306)2.24990941
113Cellulitis (HP:0100658)2.24633267
114Muscle fibrillation (HP:0010546)2.23924396
115Abnormality of iron homeostasis (HP:0011031)2.23898448
116Male infertility (HP:0003251)2.22951184
117Cheilitis (HP:0100825)2.22455359
118Autoimmune thrombocytopenia (HP:0001973)2.21144923
119Dysostosis multiplex (HP:0000943)2.20640134
120Death in infancy (HP:0001522)2.19002583
121Shoulder girdle muscle weakness (HP:0003547)2.17891014
122IgG deficiency (HP:0004315)2.17029001
123Chronic otitis media (HP:0000389)2.16595853
124Tongue fasciculations (HP:0001308)2.15252726
125Amyloidosis (HP:0011034)2.14109821
126Recurrent bacterial skin infections (HP:0005406)2.13706968
127Lymphopenia (HP:0001888)2.13213627
128Eczematoid dermatitis (HP:0000976)2.13051905
129Abnormal trabecular bone morphology (HP:0100671)2.11130736
130Short nail (HP:0001799)2.10940614
131Gingival bleeding (HP:0000225)2.10625190
132Pulmonary embolism (HP:0002204)2.10337557
133Skin rash (HP:0000988)2.09625919
134IgA deficiency (HP:0002720)2.08607414
135Abnormality of serine family amino acid metabolism (HP:0010894)2.08505663
136Abnormality of glycine metabolism (HP:0010895)2.08505663
137Agammaglobulinemia (HP:0004432)2.08175465
138Abnormality of the pleura (HP:0002103)2.08001788
139Disinhibition (HP:0000734)2.07776575
140Recurrent fungal infections (HP:0002841)2.06754323
141Arthralgia (HP:0002829)2.06557077
142Amaurosis fugax (HP:0100576)2.05479708
143Glomerulonephritis (HP:0000099)2.04097719
144Recurrent abscess formation (HP:0002722)2.03451253
145Abnormality of the hip-girdle musculature (HP:0001445)2.03216276
146Abnormality of the musculature of the pelvis (HP:0001469)2.03216276
147Acne (HP:0001061)2.02602518
148Hematochezia (HP:0002573)2.02461675
149Polycythemia (HP:0001901)2.02398555
150Heart block (HP:0012722)2.01680867
151Secondary amenorrhea (HP:0000869)2.01633248
152Abnormality of the nasal mucosa (HP:0000433)2.01121394
153Sparse lateral eyebrow (HP:0005338)2.00498379
154Amyotrophic lateral sclerosis (HP:0007354)1.98984851
155Nasal polyposis (HP:0100582)1.98263301
156Increased cerebral lipofuscin (HP:0011813)1.97319062
157Upper motor neuron abnormality (HP:0002127)1.96916704
158Trismus (HP:0000211)1.96391665
159Restlessness (HP:0000711)1.94688402
160Peritonitis (HP:0002586)1.94256871
161Emphysema (HP:0002097)1.94166998
162Interstitial pulmonary disease (HP:0006530)1.93661492
163Keratitis (HP:0000491)1.90692697
164Abnormal spermatogenesis (HP:0008669)1.90613268
165Premature loss of primary teeth (HP:0006323)1.90315384
166Cleft eyelid (HP:0000625)1.90291530
167Absent radius (HP:0003974)1.89222005
168Ependymoma (HP:0002888)1.88035746
169Reduced subcutaneous adipose tissue (HP:0003758)1.87969365
170Episodic fever (HP:0001954)1.87240114
171Abnormal atrioventricular conduction (HP:0005150)1.87187354
172Ankle contracture (HP:0006466)1.86596686
173Hand muscle atrophy (HP:0009130)1.84569975
174Premature rupture of membranes (HP:0001788)1.82728936
175Delusions (HP:0000746)1.82157080
176Patent foramen ovale (HP:0001655)1.82095996
177Prolonged neonatal jaundice (HP:0006579)1.81894931
178Recurrent bronchitis (HP:0002837)1.81723932
179Posterior subcapsular cataract (HP:0007787)1.78198950
180Stillbirth (HP:0003826)1.71287103
181Selective tooth agenesis (HP:0001592)1.70257197
182Absent hand (HP:0004050)1.68439392
183Absent forearm bone (HP:0003953)1.68314617
184Aplasia involving forearm bones (HP:0009822)1.68314617

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB15.47366819
2TSSK64.01134927
3WEE13.98334417
4IRAK43.32240545
5NEK23.15968498
6AKT32.71295974
7EPHA22.64727030
8ERN12.61242042
9EIF2AK12.59562779
10PLK42.57507065
11NEK12.42511504
12PRPF4B2.41819913
13BRSK22.35089045
14CSK2.16520480
15MAP3K92.13254163
16GRK72.09590155
17LATS21.99377932
18ARAF1.98314373
19ALK1.97261175
20TXK1.96804817
21PLK31.81931568
22SIK31.80767763
23PDK31.80221309
24PDK41.80221309
25BRSK11.78966765
26PLK11.72807371
27EPHB11.62810986
28TESK21.62566039
29PDK21.54971583
30ACVR1B1.53640072
31IRAK31.53514835
32BMPR21.52039209
33TYK21.51475590
34TTK1.50198722
35BTK1.49759204
36MATK1.44545825
37MAP4K11.43972320
38KIT1.42824137
39TAOK31.40137684
40SYK1.37875421
41RIPK41.33821594
42TRIB31.33271265
43RIPK11.33153979
44FGR1.32899016
45STK31.32046843
46STK101.30498728
47TGFBR21.29836143
48FGFR31.28034307
49PIM21.26002305
50NME21.24977788
51LYN1.22788353
52MAP2K31.20677381
53RPS6KA41.19370398
54JAK31.19323948
55HCK1.18989941
56IRAK11.18776856
57CDC42BPA1.13204596
58DYRK31.11048028
59MAP3K31.10563532
60FGFR41.09525391
61EEF2K1.09292286
62LCK1.08088781
63CDK121.06105598
64CCNB11.00926346
65PIM10.99572276
66TAOK20.99430999
67CHEK20.96542152
68IKBKB0.95503137
69EIF2AK30.94268163
70MAP3K80.94238335
71FES0.92815079
72MARK30.92612631
73SRPK10.91809978
74CSF1R0.90110796
75ZAP700.89519218
76PNCK0.88699040
77CDK40.88144862
78TEC0.86899849
79HIPK20.86714464
80MOS0.85989846
81MAP3K10.85930968
82AURKB0.85851735
83TNK20.85463728
84CHEK10.85226799
85TBK10.85100091
86ZAK0.82929276
87STK380.82816413
88JAK10.80915602
89EPHA30.77982977
90ITK0.77429755
91PAK10.76103425
92SCYL20.75607014
93BRAF0.74101235
94CLK10.72139673
95MAP3K130.67824918
96IRAK20.64722443
97CDK20.64625610
98DDR20.64370369
99KSR20.64143284
100PRKCI0.63691303
101MST1R0.62333125
102CDC70.62068123
103LRRK20.61700473
104ADRBK20.61333314
105MAPK110.61170315
106MTOR0.60993982
107MAP3K140.60273129
108NLK0.60032761
109STK38L0.59793754
110TAOK10.58719860
111AURKA0.58680746
112PTK60.58641355
113CHUK0.56400023
114PAK40.53771146
115PIK3CA0.53149542
116RAF10.52880285
117YES10.51497030
118BMX0.51259072
119ATR0.50002717
120MAPKAPK20.48754572
121RPS6KB20.48516551
122STK240.47577173
123MAP3K110.46862449
124PRKCQ0.46576194
125PRKAA10.45976585
126MAP3K20.45763237
127CAMKK20.44510178
128MARK20.43340716
129KSR10.42795613
130MAP3K50.41526216
131BLK0.40930850
132PRKAA20.40172754
133CDK70.38936350
134MAP2K60.38279087
135CSNK1E0.37534417
136PKN20.37132090
137PRKCD0.36691273
138PRKD20.36112146
139FYN0.35505871
140JAK20.35047775
141EIF2AK20.34725782
142IKBKE0.34218054
143STK40.32854764
144PDK10.32558070
145CDK10.32058910
146CDK60.30589185
147SMG10.30525422
148CAMKK10.30061647
149ABL20.29641021
150DYRK1B0.28986003
151TLK10.28341779
152PDPK10.28125727
153PINK10.27610705
154NEK90.27218394
155ABL10.25807037
156GRK60.25009688
157MAPK30.24617607
158CSNK2A20.24374418
159INSR0.24356403
160MAPK100.24224069
161MELK0.22512774
162MAPKAPK30.21744439
163PAK60.21265196
164ATM0.21111461

Predicted pathways (KEGG)

RankGene SetZ-score
1Vitamin B6 metabolism_Homo sapiens_hsa007506.08529528
2Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.98422726
3RNA polymerase_Homo sapiens_hsa030203.46692496
4Autoimmune thyroid disease_Homo sapiens_hsa053203.03709623
5RNA transport_Homo sapiens_hsa030132.96478601
6Regulation of autophagy_Homo sapiens_hsa041402.78276830
7Proteasome_Homo sapiens_hsa030502.76004785
8Staphylococcus aureus infection_Homo sapiens_hsa051502.55074745
9Asthma_Homo sapiens_hsa053102.41857261
10Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.38293047
11African trypanosomiasis_Homo sapiens_hsa051432.23764845
12Cell cycle_Homo sapiens_hsa041102.02789134
13Antigen processing and presentation_Homo sapiens_hsa046121.94566839
14p53 signaling pathway_Homo sapiens_hsa041151.91850582
15Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.78210103
16Other glycan degradation_Homo sapiens_hsa005111.74146207
17Pentose phosphate pathway_Homo sapiens_hsa000301.73568572
18Spliceosome_Homo sapiens_hsa030401.73323520
19Epstein-Barr virus infection_Homo sapiens_hsa051691.70888230
20Malaria_Homo sapiens_hsa051441.57589926
21Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.51054977
22Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.50189692
23Folate biosynthesis_Homo sapiens_hsa007901.49251047
24Viral myocarditis_Homo sapiens_hsa054161.47617550
25Pertussis_Homo sapiens_hsa051331.46169275
26Basal transcription factors_Homo sapiens_hsa030221.46152785
27Glycerophospholipid metabolism_Homo sapiens_hsa005641.45598815
28mTOR signaling pathway_Homo sapiens_hsa041501.44684368
29Hematopoietic cell lineage_Homo sapiens_hsa046401.41010229
30Lysosome_Homo sapiens_hsa041421.39488431
31Pyrimidine metabolism_Homo sapiens_hsa002401.36556166
32Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.34006647
33Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.31805712
34Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.31718307
35Oocyte meiosis_Homo sapiens_hsa041141.30566712
36Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.27359510
37DNA replication_Homo sapiens_hsa030301.20638436
38Herpes simplex infection_Homo sapiens_hsa051681.10775593
39NF-kappa B signaling pathway_Homo sapiens_hsa040641.10094876
40Base excision repair_Homo sapiens_hsa034101.09201964
41Intestinal immune network for IgA production_Homo sapiens_hsa046721.06191478
42Nucleotide excision repair_Homo sapiens_hsa034201.06063863
43NOD-like receptor signaling pathway_Homo sapiens_hsa046211.05081037
44Legionellosis_Homo sapiens_hsa051341.03371690
45Measles_Homo sapiens_hsa051621.00192273
46Mismatch repair_Homo sapiens_hsa034300.99216723
47Fructose and mannose metabolism_Homo sapiens_hsa000510.98107104
48Apoptosis_Homo sapiens_hsa042100.97107404
49mRNA surveillance pathway_Homo sapiens_hsa030150.96827154
50Influenza A_Homo sapiens_hsa051640.96129062
51Purine metabolism_Homo sapiens_hsa002300.91757168
52Viral carcinogenesis_Homo sapiens_hsa052030.90332671
53Homologous recombination_Homo sapiens_hsa034400.88748182
54Primary immunodeficiency_Homo sapiens_hsa053400.86621432
55SNARE interactions in vesicular transport_Homo sapiens_hsa041300.86584728
56RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.82061107
57Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.81653564
58Biosynthesis of amino acids_Homo sapiens_hsa012300.80639624
59Pancreatic cancer_Homo sapiens_hsa052120.79011301
60Vitamin digestion and absorption_Homo sapiens_hsa049770.78672469
61Allograft rejection_Homo sapiens_hsa053300.77124653
62Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.76703815
63Leishmaniasis_Homo sapiens_hsa051400.75876121
64Salmonella infection_Homo sapiens_hsa051320.74034639
65Inositol phosphate metabolism_Homo sapiens_hsa005620.73691286
66FoxO signaling pathway_Homo sapiens_hsa040680.73453522
67Cysteine and methionine metabolism_Homo sapiens_hsa002700.73116669
68B cell receptor signaling pathway_Homo sapiens_hsa046620.71087558
69Rheumatoid arthritis_Homo sapiens_hsa053230.70361157
70Tuberculosis_Homo sapiens_hsa051520.69901207
71Osteoclast differentiation_Homo sapiens_hsa043800.69647534
72Graft-versus-host disease_Homo sapiens_hsa053320.69004117
73HIF-1 signaling pathway_Homo sapiens_hsa040660.67900464
74Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.67571253
75Longevity regulating pathway - mammal_Homo sapiens_hsa042110.66844267
76Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.63972208
77AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.62547693
78RNA degradation_Homo sapiens_hsa030180.62379133
79Type I diabetes mellitus_Homo sapiens_hsa049400.61994990
80Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.61738263
81Toll-like receptor signaling pathway_Homo sapiens_hsa046200.60666170
82Jak-STAT signaling pathway_Homo sapiens_hsa046300.59573809
83Hepatitis B_Homo sapiens_hsa051610.59528185
84Tryptophan metabolism_Homo sapiens_hsa003800.59491701
85Endocytosis_Homo sapiens_hsa041440.59276560
86Drug metabolism - other enzymes_Homo sapiens_hsa009830.58542454
87Shigellosis_Homo sapiens_hsa051310.58184769
88Small cell lung cancer_Homo sapiens_hsa052220.57913017
89Leukocyte transendothelial migration_Homo sapiens_hsa046700.57889929
90Fanconi anemia pathway_Homo sapiens_hsa034600.56074826
91HTLV-I infection_Homo sapiens_hsa051660.56059676
92Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.55812968
93Toxoplasmosis_Homo sapiens_hsa051450.55431698
94Collecting duct acid secretion_Homo sapiens_hsa049660.55210217
95Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.55099714
96Renal cell carcinoma_Homo sapiens_hsa052110.54291606
97Non-small cell lung cancer_Homo sapiens_hsa052230.53800340
98One carbon pool by folate_Homo sapiens_hsa006700.53084129
99Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.52741481
100Prolactin signaling pathway_Homo sapiens_hsa049170.52452282
101Circadian rhythm_Homo sapiens_hsa047100.52395448
102T cell receptor signaling pathway_Homo sapiens_hsa046600.52185357
103Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.51306916
104Caffeine metabolism_Homo sapiens_hsa002320.50935597
105Sulfur relay system_Homo sapiens_hsa041220.50213203
106Acute myeloid leukemia_Homo sapiens_hsa052210.49486561
107Thyroid hormone signaling pathway_Homo sapiens_hsa049190.49037326
108Carbohydrate digestion and absorption_Homo sapiens_hsa049730.48550920
109Chronic myeloid leukemia_Homo sapiens_hsa052200.48135675
110Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.47810146
111Synaptic vesicle cycle_Homo sapiens_hsa047210.47159442
112Adipocytokine signaling pathway_Homo sapiens_hsa049200.46813992
113Insulin resistance_Homo sapiens_hsa049310.46637931
114Renin-angiotensin system_Homo sapiens_hsa046140.46261406
115Hepatitis C_Homo sapiens_hsa051600.45599318
116Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.45519821
117Mineral absorption_Homo sapiens_hsa049780.45496531
118TNF signaling pathway_Homo sapiens_hsa046680.42735698
119Phosphatidylinositol signaling system_Homo sapiens_hsa040700.41380018
120Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.41315290
121Neurotrophin signaling pathway_Homo sapiens_hsa047220.39374810
122Chemokine signaling pathway_Homo sapiens_hsa040620.38423762
123Amoebiasis_Homo sapiens_hsa051460.38270097
124Sphingolipid signaling pathway_Homo sapiens_hsa040710.35899709
125Complement and coagulation cascades_Homo sapiens_hsa046100.35460505
126Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.35267394
127Galactose metabolism_Homo sapiens_hsa000520.33720653
128Thyroid cancer_Homo sapiens_hsa052160.33175693
129VEGF signaling pathway_Homo sapiens_hsa043700.32990293
130Phagosome_Homo sapiens_hsa041450.32606624
131Prion diseases_Homo sapiens_hsa050200.32085631
132Transcriptional misregulation in cancer_Homo sapiens_hsa052020.31985868
133Arachidonic acid metabolism_Homo sapiens_hsa005900.30707598
134Dorso-ventral axis formation_Homo sapiens_hsa043200.27724118
135Cyanoamino acid metabolism_Homo sapiens_hsa004600.26925978
136Glycosaminoglycan degradation_Homo sapiens_hsa005310.24560486
137Notch signaling pathway_Homo sapiens_hsa043300.22623420
138Bladder cancer_Homo sapiens_hsa052190.22369170
139Platelet activation_Homo sapiens_hsa046110.21958329
140Ether lipid metabolism_Homo sapiens_hsa005650.20708097
141Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.20163278
142Sulfur metabolism_Homo sapiens_hsa009200.19808229
143Sphingolipid metabolism_Homo sapiens_hsa006000.16695602
144Linoleic acid metabolism_Homo sapiens_hsa005910.15485900
145alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.15134843

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