SAV1

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: WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein with two WW domains, a SARAH domain, and a coiled-coil region and is ubiquitously expressed in adult tissues. This protein binds to MST1 (mammalian sterile 20-like kinase 1) and promotes MST1-induced apoptosis. It has also been shown to bind to HAX1 (hematopoietic cell-specific protein 1 (HS1)-associated protein X-1) and to attenuate the anti-apoptotic effects of HAX1. Studies in human and mouse suggest this gene acts as a tumor suppressor. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1paraxial mesoderm development (GO:0048339)4.47707744
2cellular protein complex localization (GO:0034629)4.17456349
3mitotic chromosome condensation (GO:0007076)3.96508379
4CENP-A containing nucleosome assembly (GO:0034080)3.77874985
5chromatin remodeling at centromere (GO:0031055)3.76207538
6protein complex localization (GO:0031503)3.75924017
7protein localization to kinetochore (GO:0034501)3.73994827
8mitotic metaphase plate congression (GO:0007080)3.72540625
9positive regulation by organism of defense response of other organism involved in symbiotic interact3.63939881
10modulation by symbiont of host immune response (GO:0052553)3.63939881
11positive regulation by symbiont of host defense response (GO:0052509)3.63939881
12modulation by symbiont of host defense response (GO:0052031)3.63939881
13modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.63939881
14modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.63939881
15anterior/posterior axis specification, embryo (GO:0008595)3.60123892
16protein localization to chromosome, centromeric region (GO:0071459)3.50605418
17mitotic sister chromatid cohesion (GO:0007064)3.47866198
18regulation of gene silencing by RNA (GO:0060966)3.43418325
19regulation of posttranscriptional gene silencing (GO:0060147)3.43418325
20regulation of gene silencing by miRNA (GO:0060964)3.43418325
21low-density lipoprotein particle clearance (GO:0034383)3.43294967
22mitotic G2/M transition checkpoint (GO:0044818)3.38941261
23protein localization to endosome (GO:0036010)3.35027304
24* hippo signaling (GO:0035329)3.27766061
25regulation of meiosis I (GO:0060631)3.25709808
26regulation of integrin activation (GO:0033623)3.23752483
27histone exchange (GO:0043486)3.21342074
28notochord development (GO:0030903)3.19376471
29cell adhesion mediated by integrin (GO:0033627)3.19085216
30apoptotic cell clearance (GO:0043277)3.17706970
31antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.15058027
32nodal signaling pathway (GO:0038092)3.13948621
33metaphase plate congression (GO:0051310)3.13639613
34kinetochore organization (GO:0051383)3.11222689
35regulation of Wnt signaling pathway involved in heart development (GO:0003307)3.09850538
36positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.04060015
37positive regulation of catenin import into nucleus (GO:0035413)3.04052827
38cellular response to interferon-alpha (GO:0035457)3.01539812
39ribosome assembly (GO:0042255)3.00043925
40positive regulation of interferon-alpha production (GO:0032727)2.99748667
41cellular response to zinc ion (GO:0071294)2.98072920
42regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.97718957
43regulation of histone H3-K9 methylation (GO:0051570)2.96955003
44growth hormone receptor signaling pathway (GO:0060396)2.94929198
45embryonic process involved in female pregnancy (GO:0060136)2.94543192
46DNA replication checkpoint (GO:0000076)2.94088166
47DNA unwinding involved in DNA replication (GO:0006268)2.93915124
48mitotic G2 DNA damage checkpoint (GO:0007095)2.91962696
49regulation of transforming growth factor beta2 production (GO:0032909)2.91517984
50establishment of integrated proviral latency (GO:0075713)2.90029960
51regulation of cholesterol storage (GO:0010885)2.88921397
52protein heterotrimerization (GO:0070208)2.87936684
53regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.85472492
54bundle of His cell to Purkinje myocyte communication (GO:0086069)2.82618479
55DNA double-strand break processing (GO:0000729)2.82188811
56regulation of interferon-alpha production (GO:0032647)2.81899136
57positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.80961754
58regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 2.79674547
59positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr2.78150577
60positive regulation of p38MAPK cascade (GO:1900745)2.77304498
61regulation of interferon-beta biosynthetic process (GO:0045357)2.75417033
62regulation of podosome assembly (GO:0071801)2.74512949
63macrophage activation involved in immune response (GO:0002281)2.73757266
64folic acid-containing compound biosynthetic process (GO:0009396)2.71875866
65DNA replication-independent nucleosome assembly (GO:0006336)2.71209245
66DNA replication-independent nucleosome organization (GO:0034724)2.71209245
67establishment of apical/basal cell polarity (GO:0035089)2.71134914
68lung-associated mesenchyme development (GO:0060484)2.70609113
69regulation of interleukin-12 biosynthetic process (GO:0045075)2.70282064
70mesodermal cell differentiation (GO:0048333)2.69387204
71positive regulation of chromosome segregation (GO:0051984)2.65064620
72response to laminar fluid shear stress (GO:0034616)2.64618811
73neutrophil activation involved in immune response (GO:0002283)2.63819911
74positive regulation of histone deacetylation (GO:0031065)2.63468936
75regulation of macrophage cytokine production (GO:0010935)2.62753107
76negative regulation of fibroblast apoptotic process (GO:2000270)2.60589505
77mitochondrial calcium ion transport (GO:0006851)2.60066680
78positive regulation of natural killer cell differentiation (GO:0032825)2.59973198
79mitotic sister chromatid segregation (GO:0000070)2.59179202
80basement membrane organization (GO:0071711)2.58936603
81regulation of cell fate specification (GO:0042659)2.58921906
82tight junction assembly (GO:0070830)2.58709157
83NLS-bearing protein import into nucleus (GO:0006607)2.57530810
84positive regulation of macrophage cytokine production (GO:0060907)2.56485951
85nuclear pore complex assembly (GO:0051292)2.55884272
86antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.54994757
87antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.54994757
88sister chromatid segregation (GO:0000819)2.54313980
89cellular response to growth hormone stimulus (GO:0071378)2.53863674
90endodermal cell differentiation (GO:0035987)2.53008092
91cytoplasmic mRNA processing body assembly (GO:0033962)2.52175267
92positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.49793593
93JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)2.49420451
94wound healing, spreading of epidermal cells (GO:0035313)2.49209771
95ventricular cardiac muscle cell development (GO:0055015)2.49051371
96negative regulation of protein localization to cell surface (GO:2000009)2.48860104
97antigen processing and presentation of endogenous antigen (GO:0019883)2.47327188
98negative regulation of interleukin-12 production (GO:0032695)2.47287238
99regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.45345984
100negative regulation of fatty acid transport (GO:2000192)2.44956557
101establishment of chromosome localization (GO:0051303)2.44809579
102IMP biosynthetic process (GO:0006188)2.43556673
103hepatocyte apoptotic process (GO:0097284)2.43468765
104synapsis (GO:0007129)2.43267281
105kinetochore assembly (GO:0051382)2.43230167
106regulation of chromosome segregation (GO:0051983)2.42847729
107regulation of SMAD protein import into nucleus (GO:0060390)2.42796491
108pore complex assembly (GO:0046931)2.41942788
109regulation of centriole replication (GO:0046599)2.40997381
110regulation of syncytium formation by plasma membrane fusion (GO:0060142)2.40662616
111IMP metabolic process (GO:0046040)2.40092481
112negative regulation of androgen receptor signaling pathway (GO:0060766)2.39868677
113ribosomal small subunit biogenesis (GO:0042274)2.39434040
114G2 DNA damage checkpoint (GO:0031572)2.39083163
115lipopolysaccharide-mediated signaling pathway (GO:0031663)2.38465917
116DNA strand elongation involved in DNA replication (GO:0006271)2.38305448
117cellular response to ionizing radiation (GO:0071479)2.38286376
118endothelial cell morphogenesis (GO:0001886)2.37778726
119regulation of protein polyubiquitination (GO:1902914)2.37070755
120regulation of integrin-mediated signaling pathway (GO:2001044)2.36875242
121negative regulation of meiosis (GO:0045835)2.35995811
122hypotonic response (GO:0006971)2.35670697
123regulation of centrosome cycle (GO:0046605)2.35461152
124negative regulation of DNA repair (GO:0045738)2.35100805
125branching involved in salivary gland morphogenesis (GO:0060445)2.35087185
126positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.34353045
127positive regulation of interferon-beta production (GO:0032728)2.34133800
128response to muramyl dipeptide (GO:0032495)2.33904453
129negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.33162809
130negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.33162809
131negative regulation of mitotic sister chromatid segregation (GO:0033048)2.33162809
132negative regulation of mitotic sister chromatid separation (GO:2000816)2.33162809
133negative regulation of sister chromatid segregation (GO:0033046)2.33162809
134response to X-ray (GO:0010165)2.32475564
135response to interferon-alpha (GO:0035455)2.31531704
136vascular endothelial growth factor signaling pathway (GO:0038084)2.31413348
137mRNA stabilization (GO:0048255)2.30471858
138RNA stabilization (GO:0043489)2.30471858
139DNA strand elongation (GO:0022616)2.30380334
140trophoblast giant cell differentiation (GO:0060707)2.30361137
141negative regulation of chromosome segregation (GO:0051985)2.30185291
142germ cell migration (GO:0008354)2.28729036
143cellular response to virus (GO:0098586)2.28321398
144regulation of metaphase/anaphase transition of cell cycle (GO:1902099)2.28207498
145regulation of mitotic metaphase/anaphase transition (GO:0030071)2.28207498
146cellular response to vitamin D (GO:0071305)2.27965992
147protein neddylation (GO:0045116)2.27787861
148negative regulation of norepinephrine secretion (GO:0010700)2.27645332
149positive regulation of SMAD protein import into nucleus (GO:0060391)2.27212831
150response to peptidoglycan (GO:0032494)2.26296275
151protein K6-linked ubiquitination (GO:0085020)2.26174347
152I-kappaB phosphorylation (GO:0007252)2.25829924
153cortical actin cytoskeleton organization (GO:0030866)2.25685779
154attachment of spindle microtubules to kinetochore (GO:0008608)2.25678650
155myoblast migration (GO:0051451)2.25494234
156spindle checkpoint (GO:0031577)2.25452678
157response to host immune response (GO:0052572)2.25199230
158response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.25199230
159telomere maintenance via semi-conservative replication (GO:0032201)2.25094113
160detection of molecule of bacterial origin (GO:0032490)2.24918578
161spindle assembly involved in mitosis (GO:0090307)2.24822236
162regulation of mononuclear cell migration (GO:0071675)2.24749669
163positive regulation of protein oligomerization (GO:0032461)2.24673373
164DNA synthesis involved in DNA repair (GO:0000731)2.24454446
165regulation of DNA methylation (GO:0044030)2.23789323
166negative regulation of interleukin-8 production (GO:0032717)2.22491027
167heterochromatin organization (GO:0070828)2.22455086
168cell-substrate junction assembly (GO:0007044)2.21942810
169positive regulation of gamma-delta T cell activation (GO:0046645)2.21914137
170response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.21503360
171response to host (GO:0075136)2.21503360
172response to host defenses (GO:0052200)2.21503360
173polarized epithelial cell differentiation (GO:0030859)2.21345839
174natural killer cell differentiation (GO:0001779)2.21156789
175nuclear pore organization (GO:0006999)2.21148514
176regulation of RNA export from nucleus (GO:0046831)2.21123712
177regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.20927761
178negative regulation of lipid storage (GO:0010888)2.20603663
179plasma membrane repair (GO:0001778)2.20412307
180natural killer cell mediated immunity (GO:0002228)2.20169130
181natural killer cell mediated cytotoxicity (GO:0042267)2.20169130
182embryonic placenta development (GO:0001892)2.20140710
183positive regulation of bone resorption (GO:0045780)2.19472912
184positive regulation of bone remodeling (GO:0046852)2.19472912
185regulation of membrane protein ectodomain proteolysis (GO:0051043)2.19372831
186positive regulation of lamellipodium assembly (GO:0010592)2.19281462
187positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)2.18933052
188establishment of endothelial barrier (GO:0061028)2.16444310
189Rap protein signal transduction (GO:0032486)2.15511431
190response to fluid shear stress (GO:0034405)2.14409016
191skeletal muscle adaptation (GO:0043501)2.14198382
192endothelial tube morphogenesis (GO:0061154)2.13976716
193morphogenesis of an endothelium (GO:0003159)2.13976716

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse4.26058975
2EGR1_19374776_ChIP-ChIP_THP-1_Human3.94430754
3AR_21909140_ChIP-Seq_LNCAP_Human3.72302215
4KLF5_18264089_ChIP-ChIP_MESCs_Mouse3.39098111
5KLF4_18264089_ChIP-ChIP_MESCs_Mouse3.39098111
6KLF2_18264089_ChIP-ChIP_MESCs_Mouse3.39098111
7IRF8_22096565_ChIP-ChIP_GC-B_Human3.35540701
8FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.10184956
9IRF8_21731497_ChIP-ChIP_J774_Mouse3.05207352
10STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.96494995
11E2F4_17652178_ChIP-ChIP_JURKAT_Human2.88879438
12FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.75893936
13TP63_17297297_ChIP-ChIP_HaCaT_Human2.71682470
14SALL1_21062744_ChIP-ChIP_HESCs_Human2.54312798
15FOXM1_23109430_ChIP-Seq_U2OS_Human2.45982062
16MYC_18555785_ChIP-Seq_MESCs_Mouse2.45743859
17* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.44137039
18BP1_19119308_ChIP-ChIP_Hs578T_Human2.36583704
19IRF8_27001747_Chip-Seq_BMDM_Mouse2.34986886
20CLOCK_20551151_ChIP-Seq_293T_Human2.34879664
21SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.30079759
22* MYB_21317192_ChIP-Seq_ERMYB_Mouse2.27772777
23RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.26597353
24STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.17600360
25KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.16790338
26PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.15350369
27TRIM28_21343339_ChIP-Seq_HEK293_Human2.14460483
28RARG_19884340_ChIP-ChIP_MEFs_Mouse2.08606279
29SALL4_18804426_ChIP-ChIP_MESCs_Mouse2.06307420
30IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.05963804
31VDR_21846776_ChIP-Seq_THP-1_Human2.05700075
32NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.01360693
33Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.00807176
34MYC_22102868_ChIP-Seq_BL_Human1.95903716
35* MYC_19079543_ChIP-ChIP_MESCs_Mouse1.94544013
36* BRD4_27068464_Chip-Seq_AML-cells_Mouse1.94264962
37ELK3_25401928_ChIP-Seq_HUVEC_Human1.93509321
38E2F7_22180533_ChIP-Seq_HELA_Human1.91981567
39TCF7_22412390_ChIP-Seq_EML_Mouse1.87366573
40* TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.82130572
41HIF1A_21447827_ChIP-Seq_MCF-7_Human1.81522563
42POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.81250346
43* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.81069019
44MAF_26560356_Chip-Seq_TH1_Human1.80683356
45TCF3_18692474_ChIP-Seq_MEFs_Mouse1.79683370
46STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.77632011
47* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.77153073
48E2F1_21310950_ChIP-Seq_MCF-7_Human1.75269630
49* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.75136385
50TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.73636797
51* TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.71748741
52MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.71422340
53NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.70043502
54EWS_26573619_Chip-Seq_HEK293_Human1.68093867
55KDM2B_26808549_Chip-Seq_DND41_Human1.67972168
56KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.66530527
57KDM2B_26808549_Chip-Seq_SUP-B15_Human1.66215527
58KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.65548391
59VDR_24763502_ChIP-Seq_THP-1_Human1.63565718
60TCF3_18692474_ChIP-Seq_MESCs_Mouse1.58371135
61ELK1_19687146_ChIP-ChIP_HELA_Human1.57089563
62MYC_19030024_ChIP-ChIP_MESCs_Mouse1.56530376
63POU5F1_16153702_ChIP-ChIP_HESCs_Human1.52529144
64ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.47725230
65PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.46716839
66IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.45841030
67* NANOG_16153702_ChIP-ChIP_HESCs_Human1.45233814
68TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.45189540
69FOXO3_23340844_ChIP-Seq_DLD1_Human1.40593356
70FOXM1_26456572_ChIP-Seq_MCF-7_Human1.40309354
71* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.39039446
72* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.38886243
73* P300_27058665_Chip-Seq_ZR-75-30cells_Human1.38365120
74MYB_26560356_Chip-Seq_TH2_Human1.37476619
75UTX_26944678_Chip-Seq_JUKART_Human1.37416270
76TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.37031152
77KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.34362986
78EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.33780057
79MYB_26560356_Chip-Seq_TH1_Human1.33447941
80FUS_26573619_Chip-Seq_HEK293_Human1.33394952
81CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.31740445
82ZNF217_24962896_ChIP-Seq_MCF-7_Human1.31245892
83CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.30411364
84GATA1_26923725_Chip-Seq_HPCs_Mouse1.29934668
85STAT3_1855785_ChIP-Seq_MESCs_Mouse1.29560799
86ZNF263_19887448_ChIP-Seq_K562_Human1.29034344
87NELFA_20434984_ChIP-Seq_ESCs_Mouse1.27108778
88VDR_24787735_ChIP-Seq_THP-1_Human1.26634618
89EP300_21415370_ChIP-Seq_HL-1_Mouse1.26178095
90SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.25892614
91SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.25638322
92PPAR_26484153_Chip-Seq_NCI-H1993_Human1.25323298
93SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.25089363
94HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.25035882
95UBF1/2_26484160_Chip-Seq_HMECs_Human1.24496370
96WT1_19549856_ChIP-ChIP_CCG9911_Human1.24263103
97PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.23099659
98ZFX_18555785_ChIP-Seq_MESCs_Mouse1.22958598
99* SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.22872977
100* SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.22872977
101PU_27001747_Chip-Seq_BMDM_Mouse1.22674616
102NCOR1_26117541_ChIP-Seq_K562_Human1.22170128
103* ATF3_27146783_Chip-Seq_COLON_Human1.21624597
104RUNX1_22412390_ChIP-Seq_EML_Mouse1.20488811
105FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.19006185
106STAT4_19710469_ChIP-ChIP_TH1__Mouse1.18979670
107* FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.18352352
108NANOG_18555785_ChIP-Seq_MESCs_Mouse1.17322287
109ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.16597636
110* RACK7_27058665_Chip-Seq_MCF-7_Human1.16522538
111PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.15966665
112BRD4_25478319_ChIP-Seq_HGPS_Human1.15332016
113ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.14881548
114SPI1_23127762_ChIP-Seq_K562_Human1.14876773
115SOX2_18555785_ChIP-Seq_MESCs_Mouse1.14222297
116* SOX2_16153702_ChIP-ChIP_HESCs_Human1.14188132
117NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.14138904
118ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.12290840
119SOX17_20123909_ChIP-Seq_XEN_Mouse1.11684408
120* CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.11434448
121CJUN_26792858_Chip-Seq_BT549_Human1.10873085
122KDM2B_26808549_Chip-Seq_JURKAT_Human1.09693717
123PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.09579717
124KLF4_18555785_ChIP-Seq_MESCs_Mouse1.09202904
125GATA2_21666600_ChIP-Seq_HMVEC_Human1.09114715
126E2F1_18555785_ChIP-Seq_MESCs_Mouse1.09010238
127CHD1_26751641_Chip-Seq_LNCaP_Human1.08785416
128NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.08770204
129SPI1_23547873_ChIP-Seq_NB4_Human1.08422341
130NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.08064997
131NRF2_20460467_ChIP-Seq_MEFs_Mouse1.08064997
132ESR1_21235772_ChIP-Seq_MCF-7_Human1.08059663
133TP63_19390658_ChIP-ChIP_HaCaT_Human1.06830375
134PIAS1_25552417_ChIP-Seq_VCAP_Human1.06816439
135MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.05860345
136FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.05587587
137POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.04936401
138* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.04824038
139NFIB_24661679_ChIP-Seq_LUNG_Mouse1.04627076
140TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.03525141
141SALL4_18804426_ChIP-ChIP_XEN_Mouse1.02734595
142* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.02001235
143SCL_19346495_ChIP-Seq_HPC-7_Human1.01878963
144TBX20_22080862_ChIP-Seq_HEART_Mouse1.01740632
145TBX20_22328084_ChIP-Seq_HEART_Mouse1.01740632
146GATA6_25053715_ChIP-Seq_YYC3_Human1.00926841
147THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.00706914
148TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.00650486
149RBPJ_22232070_ChIP-Seq_NCS_Mouse1.00029090
150CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.99978490
151VDR_22108803_ChIP-Seq_LS180_Human0.99790242
152RUNX_20019798_ChIP-Seq_JUKART_Human0.98573928
153NANOG_18692474_ChIP-Seq_MEFs_Mouse0.98518689
154AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.97277655
155CREB1_15753290_ChIP-ChIP_HEK293T_Human0.97095767
156JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.96944576
157STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.96054833
158JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.95275016
159FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.94972396
160EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.94723890
161LXR_22292898_ChIP-Seq_THP-1_Human0.94550325
162TFEB_21752829_ChIP-Seq_HELA_Human0.92474058
163SOX2_27498859_Chip-Seq_STOMACH_Mouse0.91455408
164NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.91023674
165NANOG_18347094_ChIP-ChIP_MESCs_Mouse0.90538897
166GF1B_26923725_Chip-Seq_HPCs_Mouse0.89542660
167POU5F1_18347094_ChIP-ChIP_MESCs_Mouse0.89055724
168CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.88328815
169EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse0.87409685
170PADI4_21655091_ChIP-ChIP_MCF-7_Human0.86178896
171SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.84943458
172NANOG_18692474_ChIP-Seq_MESCs_Mouse0.84670002
173MYC_18940864_ChIP-ChIP_HL60_Human0.84144485
174TBX3_20139965_ChIP-Seq_ESCs_Mouse0.83914494
175ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.83861819
176TBX3_20139965_ChIP-Seq_MESCs_Mouse0.83052408
177DCP1A_22483619_ChIP-Seq_HELA_Human0.83043280

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003941_abnormal_skin_development4.38701978
2MP0008438_abnormal_cutaneous_collagen3.79951876
3MP0003705_abnormal_hypodermis_morpholog3.60020610
4MP0003950_abnormal_plasma_membrane3.22488188
5MP0003693_abnormal_embryo_hatching2.96010957
6MP0004957_abnormal_blastocyst_morpholog2.69324380
7MP0009278_abnormal_bone_marrow2.64283406
8MP0005076_abnormal_cell_differentiation2.47179823
9MP0003718_maternal_effect2.46218945
10MP0003303_peritoneal_inflammation2.36697232
11MP0005275_abnormal_skin_tensile2.31934997
12MP0003300_gastrointestinal_ulcer2.16022633
13MP0003111_abnormal_nucleus_morphology2.12003863
14MP0003566_abnormal_cell_adhesion2.09178308
15MP0003436_decreased_susceptibility_to1.94844527
16MP0003890_abnormal_embryonic-extraembry1.94810256
17MP0003077_abnormal_cell_cycle1.86933246
18* MP0010352_gastrointestinal_tract_polyps1.85850690
19MP0008932_abnormal_embryonic_tissue1.83096161
20MP0001835_abnormal_antigen_presentation1.80334348
21MP0010094_abnormal_chromosome_stability1.79770958
22MP0010030_abnormal_orbit_morphology1.76812712
23MP0000733_abnormal_muscle_development1.75225582
24MP0004185_abnormal_adipocyte_glucose1.73849400
25MP0001293_anophthalmia1.73354678
26MP0002166_altered_tumor_susceptibility1.70753824
27MP0009697_abnormal_copulation1.64770536
28* MP0002796_impaired_skin_barrier1.62795694
29MP0005623_abnormal_meninges_morphology1.62740745
30MP0008004_abnormal_stomach_pH1.60932689
31MP0006054_spinal_hemorrhage1.60865979
32MP0004272_abnormal_basement_membrane1.60233885
33MP0003448_altered_tumor_morphology1.59588721
34MP0010307_abnormal_tumor_latency1.57148285
35MP0001958_emphysema1.56962691
36MP0005397_hematopoietic_system_phenotyp1.55041634
37MP0001545_abnormal_hematopoietic_system1.55041634
38MP0001730_embryonic_growth_arrest1.53661719
39MP0002006_tumorigenesis1.53309606
40MP0006292_abnormal_olfactory_placode1.52589047
41MP0003279_aneurysm1.50761081
42MP0000685_abnormal_immune_system1.49573627
43MP0003091_abnormal_cell_migration1.48690203
44MP0000350_abnormal_cell_proliferation1.48032159
45MP0005023_abnormal_wound_healing1.43572890
46MP0000428_abnormal_craniofacial_morphol1.42465099
47MP0003453_abnormal_keratinocyte_physiol1.37721931
48MP0008058_abnormal_DNA_repair1.37664303
49MP0002877_abnormal_melanocyte_morpholog1.36528507
50MP0004510_myositis1.36487373
51MP0005058_abnormal_lysosome_morphology1.36275330
52MP0009379_abnormal_foot_pigmentation1.35884428
53MP0005387_immune_system_phenotype1.35482498
54MP0001790_abnormal_immune_system1.35482498
55MP0006082_CNS_inflammation1.35255076
56MP0003937_abnormal_limbs/digits/tail_de1.33762329
57MP0003828_pulmonary_edema1.33511374
58MP0004947_skin_inflammation1.33086086
59MP0005503_abnormal_tendon_morphology1.32649987
60* MP0005501_abnormal_skin_physiology1.32483106
61MP0004808_abnormal_hematopoietic_stem1.32314408
62MP0002084_abnormal_developmental_patter1.31995122
63MP0000762_abnormal_tongue_morphology1.31937114
64MP0002697_abnormal_eye_size1.29875256
65MP0000569_abnormal_digit_pigmentation1.29617057
66MP0005000_abnormal_immune_tolerance1.29302805
67MP0004130_abnormal_muscle_cell1.28824607
68MP0002419_abnormal_innate_immunity1.28359137
69MP0000579_abnormal_nail_morphology1.27816060
70MP0002085_abnormal_embryonic_tissue1.27014781
71MP0002452_abnormal_antigen_presenting1.25438760
72MP0009785_altered_susceptibility_to1.25153974
73MP0000343_altered_response_to1.24749733
74MP0003045_fibrosis1.24499685
75MP0001533_abnormal_skeleton_physiology1.22990049
76MP0010234_abnormal_vibrissa_follicle1.22970439
77MP0001542_abnormal_bone_strength1.22538090
78MP0008007_abnormal_cellular_replicative1.22391290
79MP0001672_abnormal_embryogenesis/_devel1.21648594
80MP0005380_embryogenesis_phenotype1.21648594
81MP0001879_abnormal_lymphatic_vessel1.20830090
82MP0002233_abnormal_nose_morphology1.19087977
83MP0002405_respiratory_system_inflammati1.19033585
84MP0003724_increased_susceptibility_to1.17810371
85MP0001697_abnormal_embryo_size1.17692177
86MP0004084_abnormal_cardiac_muscle1.17416407
87MP0005025_abnormal_response_to1.16822363
88MP0003186_abnormal_redox_activity1.15829325
89MP0001800_abnormal_humoral_immune1.15784038
90MP0005508_abnormal_skeleton_morphology1.15684309
91MP0000767_abnormal_smooth_muscle1.14004915
92MP0005666_abnormal_adipose_tissue1.13734915
93MP0010678_abnormal_skin_adnexa1.13530441
94MP0002009_preneoplasia1.12526534
95MP0002998_abnormal_bone_remodeling1.12123129
96MP0002148_abnormal_hypersensitivity_rea1.11367654
97MP0002060_abnormal_skin_morphology1.11243010
98MP0002138_abnormal_hepatobiliary_system1.09997399
99MP0001881_abnormal_mammary_gland1.07349700
100MP0001915_intracranial_hemorrhage1.06368332
101MP0005395_other_phenotype1.05154010
102MP0001299_abnormal_eye_distance/1.05111563
103MP0000432_abnormal_head_morphology1.02100614
104MP0000858_altered_metastatic_potential1.01920025
105MP0009250_abnormal_appendicular_skeleto1.01638383
106MP0002723_abnormal_immune_serum1.00154430
107MP0000383_abnormal_hair_follicle0.99520664
108MP0010630_abnormal_cardiac_muscle0.96923668
109MP0003119_abnormal_digestive_system0.96309396
110MP0005464_abnormal_platelet_physiology0.96214992
111MP0002234_abnormal_pharynx_morphology0.95784021
112MP0001819_abnormal_immune_cell0.95743243
113MP0000627_abnormal_mammary_gland0.94836848
114MP0002420_abnormal_adaptive_immunity0.94283265
115MP0004215_abnormal_myocardial_fiber0.93198897
116MP0003567_abnormal_fetal_cardiomyocyte0.91642005
117MP0001286_abnormal_eye_development0.91402834
118* MP0002080_prenatal_lethality0.91304338
119MP0005167_abnormal_blood-brain_barrier0.90661177
120MP0000750_abnormal_muscle_regeneration0.90073065
121MP0001849_ear_inflammation0.89423744
122MP0005670_abnormal_white_adipose0.88877024
123MP0009115_abnormal_fat_cell0.88832491
124MP0002925_abnormal_cardiovascular_devel0.88334022
125MP0002111_abnormal_tail_morphology0.87409521
126MP0003755_abnormal_palate_morphology0.87259679
127MP0005390_skeleton_phenotype0.87093797
128MP0009703_decreased_birth_body0.85670416
129MP0004087_abnormal_muscle_fiber0.85489403
130* MP0002086_abnormal_extraembryonic_tissu0.85447550
131* MP0010155_abnormal_intestine_physiology0.84661657
132MP0003935_abnormal_craniofacial_develop0.84625926
133MP0002398_abnormal_bone_marrow0.83692025
134MP0001845_abnormal_inflammatory_respons0.83657736
135MP0005375_adipose_tissue_phenotype0.83155579
136MP0005257_abnormal_intraocular_pressure0.83070853
137MP0001188_hyperpigmentation0.82001526
138MP0002254_reproductive_system_inflammat0.81731587
139MP0009672_abnormal_birth_weight0.81657391
140MP0002282_abnormal_trachea_morphology0.81385310
141MP0002089_abnormal_postnatal_growth/wei0.81218640
142MP0002160_abnormal_reproductive_system0.81126325
143MP0003942_abnormal_urinary_system0.81111936
144MP0008057_abnormal_DNA_replication0.81040458
145MP0009333_abnormal_splenocyte_physiolog0.80523961
146MP0002177_abnormal_outer_ear0.80430552
147* MP0004197_abnormal_fetal_growth/weight/0.80358110
148MP0000249_abnormal_blood_vessel0.79923215
149MP0010368_abnormal_lymphatic_system0.79402795
150MP0001614_abnormal_blood_vessel0.77938537
151MP0009053_abnormal_anal_canal0.77271322
152MP0002168_other_aberrant_phenotype0.77032127
153MP0002128_abnormal_blood_circulation0.76154867
154MP0002933_joint_inflammation0.75154244
155MP0005410_abnormal_fertilization0.74284499
156MP0002210_abnormal_sex_determination0.74141158
157MP0002088_abnormal_embryonic_growth/wei0.74140160
158MP0000647_abnormal_sebaceous_gland0.74027784
159MP0002971_abnormal_brown_adipose0.73908693
160MP0003984_embryonic_growth_retardation0.73644657
161MP0000716_abnormal_immune_system0.73511764
162MP0005164_abnormal_response_to0.73052107
163* MP0001216_abnormal_epidermal_layer0.72876130
164MP0001661_extended_life_span0.72786594
165MP0000371_diluted_coat_color0.72317070
166MP0001853_heart_inflammation0.69995339

Predicted human phenotypes

RankGene SetZ-score
1Short middle phalanx of the 5th finger (HP:0004220)4.47321939
2Cerebral aneurysm (HP:0004944)3.82501346
3Protrusio acetabuli (HP:0003179)3.76564561
4Hematochezia (HP:0002573)3.31685883
5Premature rupture of membranes (HP:0001788)3.23327244
6Eczematoid dermatitis (HP:0000976)3.22173075
7Ankle contracture (HP:0006466)3.15488963
8Microglossia (HP:0000171)3.09134298
9Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)3.08735382
10Ulnar bowing (HP:0003031)3.00569389
11Shallow orbits (HP:0000586)2.94855607
12Osteolytic defects of the hand bones (HP:0009699)2.94123947
13Osteolytic defects of the phalanges of the hand (HP:0009771)2.94123947
14Peritonitis (HP:0002586)2.90174859
15Biliary tract neoplasm (HP:0100574)2.89399177
16Increased connective tissue (HP:0009025)2.85512286
17Aortic aneurysm (HP:0004942)2.85031804
18Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)2.74530640
19Myocardial infarction (HP:0001658)2.67037897
20Recurrent abscess formation (HP:0002722)2.64723321
21Right ventricular cardiomyopathy (HP:0011663)2.58293681
22Increased density of long bones (HP:0006392)2.57774272
23Autoimmune thrombocytopenia (HP:0001973)2.57044027
24Mitral valve prolapse (HP:0001634)2.56725723
25Aortic dissection (HP:0002647)2.53189289
26Type 1 muscle fiber predominance (HP:0003803)2.48227725
27Recurrent bacterial skin infections (HP:0005406)2.48103445
28Ectopic kidney (HP:0000086)2.42589154
29Abnormality of the nasal mucosa (HP:0000433)2.42263772
30Dilatation of the ascending aorta (HP:0005111)2.42129115
31Polycythemia (HP:0001901)2.41734661
32Stenosis of the external auditory canal (HP:0000402)2.41102554
33Subacute progressive viral hepatitis (HP:0006572)2.38887597
34Recurrent gram-negative bacterial infections (HP:0005420)2.37206661
35Pustule (HP:0200039)2.36196541
36Aneurysm (HP:0002617)2.33112935
37Cervical subluxation (HP:0003308)2.31587529
38Follicular hyperkeratosis (HP:0007502)2.31319328
39Nasal polyposis (HP:0100582)2.28934007
40Interstitial pulmonary disease (HP:0006530)2.24208839
41Broad metatarsal (HP:0001783)2.23322696
42Short middle phalanx of finger (HP:0005819)2.19598345
43Myositis (HP:0100614)2.18928071
44Chronic bronchitis (HP:0004469)2.18236400
45Genu recurvatum (HP:0002816)2.18147501
46Abnormality of the middle phalanx of the 5th finger (HP:0004219)2.17872209
47Neoplasm of the rectum (HP:0100743)2.15814685
48Maternal diabetes (HP:0009800)2.14816271
49Persistence of primary teeth (HP:0006335)2.12936319
50Neoplasm of the small intestine (HP:0100833)2.12191610
51Syringomyelia (HP:0003396)2.11933916
52Spinal cord lesions (HP:0100561)2.11933916
53Cellulitis (HP:0100658)2.11245003
54Orchitis (HP:0100796)2.09788781
55Septo-optic dysplasia (HP:0100842)2.08917901
56Coronal craniosynostosis (HP:0004440)2.08450990
57Abnormal biliary tract morphology (HP:0012440)2.07213489
58Abnormal lung lobation (HP:0002101)2.06527816
59Neoplasm of the colon (HP:0100273)2.05435808
60Papillary thyroid carcinoma (HP:0002895)2.04102513
61Exercise-induced muscle cramps (HP:0003710)2.04085795
62Wrist flexion contracture (HP:0001239)2.02675263
63Rectal prolapse (HP:0002035)2.01415028
64Frequent falls (HP:0002359)2.00856631
65Uterine neoplasm (HP:0010784)2.00786993
66Median cleft lip (HP:0000161)2.00726069
67Abnormality of the peritoneum (HP:0002585)2.00533836
68Aplasia/Hypoplasia of the sacrum (HP:0008517)2.00044498
69Gastrointestinal carcinoma (HP:0002672)1.98040831
70Malignant gastrointestinal tract tumors (HP:0006749)1.98040831
71Atrophic scars (HP:0001075)1.97832650
72Chromsome breakage (HP:0040012)1.96234081
73Colon cancer (HP:0003003)1.96004611
74Short hallux (HP:0010109)1.95765126
75Abnormality of the phalanges of the 5th finger (HP:0004213)1.95044085
76Round ear (HP:0100830)1.94421678
77Menorrhagia (HP:0000132)1.94109611
78Absent frontal sinuses (HP:0002688)1.94053692
79Arterial thrombosis (HP:0004420)1.93065794
80Thick nail (HP:0001805)1.92501660
81Progressive muscle weakness (HP:0003323)1.91873968
82Mediastinal lymphadenopathy (HP:0100721)1.90695571
83Spondylolisthesis (HP:0003302)1.90333851
84Progressive external ophthalmoplegia (HP:0000590)1.90081504
85Short 4th metacarpal (HP:0010044)1.89782540
86Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.89782540
87Thin bony cortex (HP:0002753)1.89739853
88Tetraparesis (HP:0002273)1.88949500
89Slender build (HP:0001533)1.88923952
90Increased mean platelet volume (HP:0011877)1.88652845
91Facial cleft (HP:0002006)1.88507031
92Spontaneous hematomas (HP:0007420)1.88422647
93Camptodactyly of toe (HP:0001836)1.87079653
94Nephroblastoma (Wilms tumor) (HP:0002667)1.85224158
95Multiple enchondromatosis (HP:0005701)1.85185478
96Absent eyelashes (HP:0000561)1.84766782
97Bowed forearm bones (HP:0003956)1.84298269
98Bowing of the arm (HP:0006488)1.84298269
99Hyporeflexia of lower limbs (HP:0002600)1.83861104
100Blue sclerae (HP:0000592)1.83730913
101Abnormal auditory evoked potentials (HP:0006958)1.83505846
102Abnormality of the phalanges of the hallux (HP:0010057)1.82882465
103Spinal rigidity (HP:0003306)1.82820556
104Bundle branch block (HP:0011710)1.82411235
105Hereditary nonpolyposis colorectal carcinoma (HP:0006716)1.82177728
106Embryonal renal neoplasm (HP:0011794)1.81655425
107Difficulty running (HP:0009046)1.81050487
108Esophageal varix (HP:0002040)1.80763761
109Abnormal platelet volume (HP:0011876)1.80702819
110Ulnar deviation of the wrist (HP:0003049)1.80678670
111Hypoplastic labia majora (HP:0000059)1.80523822
112Difficulty climbing stairs (HP:0003551)1.80327310
113Sensory axonal neuropathy (HP:0003390)1.80247470
114Chromosomal breakage induced by crosslinking agents (HP:0003221)1.79241918
115Abnormality of macrophages (HP:0004311)1.78381027
116Recurrent fungal infections (HP:0002841)1.77726204
117Asymmetric septal hypertrophy (HP:0001670)1.77341547
118Lymphangioma (HP:0100764)1.77177019
119Leiomyosarcoma (HP:0100243)1.76898236
120Uterine leiomyosarcoma (HP:0002891)1.76898236
121Alopecia of scalp (HP:0002293)1.76607002
122Sparse eyelashes (HP:0000653)1.76359798
123Axonal loss (HP:0003447)1.76287125
124Male infertility (HP:0003251)1.76029314
125High pitched voice (HP:0001620)1.75956426
126Disinhibition (HP:0000734)1.73809681
127Bladder diverticulum (HP:0000015)1.73613526
128Gastrointestinal infarctions (HP:0005244)1.73283134
129Turricephaly (HP:0000262)1.72673131
130Metaphyseal cupping (HP:0003021)1.72618233
131Vascular tortuosity (HP:0004948)1.72607569
132Vertebral compression fractures (HP:0002953)1.72575700
133Nephritis (HP:0000123)1.72453656
134Transitional cell carcinoma of the bladder (HP:0006740)1.72076174
135Aplasia/Hypoplasia of the hallux (HP:0008362)1.71574351
136Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.71436519
137Selective tooth agenesis (HP:0001592)1.69979820
138Elbow flexion contracture (HP:0002987)1.69751075
139Porencephaly (HP:0002132)1.67797082
140Gingivitis (HP:0000230)1.67760362
141Abnormality of the labia minora (HP:0012880)1.67669193
142Recurrent viral infections (HP:0004429)1.67292652
143Absent septum pellucidum (HP:0001331)1.67053485
144Tibial bowing (HP:0002982)1.65664503
145Osteomyelitis (HP:0002754)1.64991505
146Abnormality of the calcaneus (HP:0008364)1.64813080
147Bicuspid aortic valve (HP:0001647)1.64330819
148Soft skin (HP:0000977)1.64221549
149Hemorrhage of the eye (HP:0011885)1.63556816
150Abnormality of the septum pellucidum (HP:0007375)1.63378656
151Nemaline bodies (HP:0003798)1.63259872
152Asymmetry of the thorax (HP:0001555)1.63107103
153Fragile nails (HP:0001808)1.62970040
154Aplasia/Hypoplasia of the middle phalanges of the hand (HP:0009843)1.61814396
155Abnormality of the 4th metacarpal (HP:0010012)1.61500186
156Curly hair (HP:0002212)1.61046794
157Conjunctival telangiectasia (HP:0000524)1.60353703
158Preaxial foot polydactyly (HP:0001841)1.59869255
159Abnormality of the lacrimal duct (HP:0011481)1.59641614
160Neoplasm of the pancreas (HP:0002894)1.59426092
161Elevated erythrocyte sedimentation rate (HP:0003565)1.59382157
162Optic nerve hypoplasia (HP:0000609)1.59359701
163Deviation of the hallux (HP:0010051)1.58044213
164Abnormality of the nasolacrimal system (HP:0000614)1.57743016
165Disproportionate tall stature (HP:0001519)1.57230665
166Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.56825039
167Macroorchidism (HP:0000053)1.56509310
168Prolonged bleeding time (HP:0003010)1.56354242
169Overgrowth (HP:0001548)1.56215048
170Shoulder girdle muscle weakness (HP:0003547)1.56196842
171Absent eyebrow (HP:0002223)1.54848180
172Rhabdomyosarcoma (HP:0002859)1.53590223
173Aplasia/Hypoplasia of the breasts (HP:0010311)1.52909984
174Small intestinal stenosis (HP:0012848)1.52675322
175Duodenal stenosis (HP:0100867)1.52675322
176Bladder carcinoma (HP:0002862)1.52568263
177Bladder neoplasm (HP:0009725)1.52568263
178Breast hypoplasia (HP:0003187)1.51627960
179Symptomatic seizures (HP:0011145)1.51506214
180Abnormality of the labia majora (HP:0012881)1.50872237
181Palpitations (HP:0001962)1.49264537
182Azoospermia (HP:0000027)1.48134845
183Absent hair (HP:0002298)1.47818668
184Cubitus valgus (HP:0002967)1.47298570
185Abnormality of the salivary glands (HP:0010286)1.47048923
186Thoracolumbar scoliosis (HP:0002944)1.45990792
187Partial duplication of the phalanx of hand (HP:0009999)1.45887644
188Glossoptosis (HP:0000162)1.45815814
189Metaphyseal dysplasia (HP:0100255)1.45698814

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MST43.75439640
2TRIB33.69775849
3BRSK23.07948265
4TTN2.84542640
5PBK2.84458939
6BUB12.82866951
7TTK2.62930390
8STK38L2.47073446
9MAP3K102.46187848
10WEE12.42446445
11CDC72.36989586
12PKN22.36632600
13DDR22.35510272
14ERN12.29451724
15CDK122.26498252
16EIF2AK12.09597749
17BMX2.09549104
18RIPK12.05400164
19LATS12.01674232
20PDGFRA1.99956878
21EIF2AK31.99737937
22PNCK1.96563456
23TNIK1.94491637
24STK101.87161283
25ICK1.78688249
26TYK21.77516398
27MYLK1.74274690
28LRRK21.72116702
29PTK61.70590931
30EPHA21.70546257
31CDK61.69861126
32MAP3K141.66425470
33ERBB41.63033837
34TBK11.56514764
35SIK11.56264128
36PLK31.56027705
37EEF2K1.55251931
38VRK21.55186784
39TAF11.55162472
40JAK31.54598930
41MAP3K91.53134806
42TGFBR21.51445655
43CAMK1D1.44647143
44* STK31.42834581
45JAK11.41658459
46MKNK21.40890588
47ACVR1B1.37066896
48CSK1.36064859
49EPHB11.35896643
50MAP4K11.35439458
51EIF2AK21.31187516
52MKNK11.30183854
53CSF1R1.29621239
54TRPM71.29436232
55FGFR31.23878094
56PLK11.21522801
57PLK41.20784099
58NUAK11.17605281
59CHEK21.17535554
60DMPK1.17310480
61NEK21.17182242
62RPS6KA41.17128840
63IKBKB1.16727886
64PIM11.11655624
65PDGFRB1.09361035
66CHUK1.05555325
67LMTK21.04480665
68PDK31.04251170
69PDK41.04251170
70EPHB21.02661635
71PAK41.02292219
72MTOR1.01531821
73SCYL21.01456019
74NEK91.01252136
75STK391.01061019
76CAMK1G1.00999578
77FGR1.00350540
78BRSK10.97538508
79STK40.96440860
80FGFR40.93656466
81MARK30.93176742
82MELK0.92193879
83DYRK30.91395247
84NLK0.86834229
85BRAF0.84935889
86MAP2K30.84556937
87ZAP700.84434057
88BRD40.83020913
89ARAF0.81741541
90MAP3K130.80588346
91ZAK0.80420712
92EPHA30.80373955
93PAK20.80206990
94PDK20.79890036
95STK160.78804770
96DYRK1B0.77453908
97JAK20.75782691
98MATK0.75122003
99GSK3A0.74313437
100RIPK40.73911558
101MST1R0.73166808
102BLK0.72365671
103CDK40.72066699
104CDK70.71111928
105HCK0.70411244
106EGFR0.70250348
107PTK2B0.69299479
108TESK10.69014086
109FRK0.68475731
110MAP3K60.68449052
111TYRO30.66221168
112AURKB0.66194883
113GRK10.65833997
114MOS0.64903702
115PIM20.64467162
116ALK0.63124979
117IKBKE0.62715769
118PTK20.62361468
119TGFBR10.62321922
120TRIM280.60600833
121MAP3K80.59871934
122CLK10.59684289
123LATS20.59492294
124AKT30.59216530
125CHEK10.58457756
126VRK10.55049019
127PRKAA20.54116108
128TAOK20.53818112
129FLT30.52825237
130ABL10.51737797
131TIE10.50953297
132KIT0.49667454
133YES10.48893084
134MET0.48810576
135INSR0.48337444
136ATM0.46683858
137CDK80.45129100
138PAK10.45027436
139BMPR1B0.45020679
140MAP3K110.44968338
141NEK10.44095353
142TSSK60.43681494
143STK240.43281531
144IRAK30.43176535
145ILK0.42601685
146AURKA0.42248120
147MAPKAPK20.41675705
148RPS6KA10.41372697
149FGFR10.41351545
150CSNK1E0.40704553
151LCK0.40206237
152RPS6KA60.40078937
153RPS6KL10.39885425
154RPS6KC10.39885425
155NME20.39768604
156CDK90.37115976
157IRAK10.36394409
158PRKD10.36323739
159ABL20.35584365
160PRKCI0.31707662
161ATR0.30108440
162DAPK30.27844784
163PRKCE0.27130000
164CDK10.25770251
165PRKG20.24623236
166CDK20.19773835

Predicted pathways (KEGG)

RankGene SetZ-score
1Mismatch repair_Homo sapiens_hsa034303.55718342
2Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.03300069
3DNA replication_Homo sapiens_hsa030302.87598792
4Cell cycle_Homo sapiens_hsa041102.81737790
5Basal transcription factors_Homo sapiens_hsa030222.49606368
6Selenocompound metabolism_Homo sapiens_hsa004502.26761193
7Leishmaniasis_Homo sapiens_hsa051402.26051065
8RNA transport_Homo sapiens_hsa030132.11243101
9Nucleotide excision repair_Homo sapiens_hsa034202.09672512
10One carbon pool by folate_Homo sapiens_hsa006702.01129852
11Small cell lung cancer_Homo sapiens_hsa052222.01038658
12Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.99831494
13Osteoclast differentiation_Homo sapiens_hsa043801.93920868
14Chronic myeloid leukemia_Homo sapiens_hsa052201.86972271
15Legionellosis_Homo sapiens_hsa051341.86564026
16Toll-like receptor signaling pathway_Homo sapiens_hsa046201.85313237
17AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.81064595
18Toxoplasmosis_Homo sapiens_hsa051451.80022970
19NF-kappa B signaling pathway_Homo sapiens_hsa040641.77488487
20Ribosome_Homo sapiens_hsa030101.75786193
21Malaria_Homo sapiens_hsa051441.74691727
22Thyroid cancer_Homo sapiens_hsa052161.74346349
23Cysteine and methionine metabolism_Homo sapiens_hsa002701.72808314
24Tight junction_Homo sapiens_hsa045301.71653851
25Homologous recombination_Homo sapiens_hsa034401.68317092
26Viral myocarditis_Homo sapiens_hsa054161.65812232
27TNF signaling pathway_Homo sapiens_hsa046681.62741194
28Focal adhesion_Homo sapiens_hsa045101.60089927
29Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.59321024
30Amoebiasis_Homo sapiens_hsa051461.56914256
31Proteoglycans in cancer_Homo sapiens_hsa052051.56854929
32Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.55869171
33Measles_Homo sapiens_hsa051621.55681948
34Adherens junction_Homo sapiens_hsa045201.55355381
35ECM-receptor interaction_Homo sapiens_hsa045121.53684789
36mRNA surveillance pathway_Homo sapiens_hsa030151.50197179
37RNA degradation_Homo sapiens_hsa030181.49658087
38B cell receptor signaling pathway_Homo sapiens_hsa046621.49185688
39Fatty acid biosynthesis_Homo sapiens_hsa000611.47340261
40Staphylococcus aureus infection_Homo sapiens_hsa051501.44630617
41Tuberculosis_Homo sapiens_hsa051521.43778595
42RNA polymerase_Homo sapiens_hsa030201.41547094
43mTOR signaling pathway_Homo sapiens_hsa041501.37670376
44Spliceosome_Homo sapiens_hsa030401.36787903
45NOD-like receptor signaling pathway_Homo sapiens_hsa046211.36648146
46MicroRNAs in cancer_Homo sapiens_hsa052061.34769491
47Leukocyte transendothelial migration_Homo sapiens_hsa046701.34139395
48Sulfur metabolism_Homo sapiens_hsa009201.33817954
49Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.33484680
50Apoptosis_Homo sapiens_hsa042101.32452492
51Pertussis_Homo sapiens_hsa051331.31320389
52Oocyte meiosis_Homo sapiens_hsa041141.29691107
53Hepatitis B_Homo sapiens_hsa051611.29586761
54Pyrimidine metabolism_Homo sapiens_hsa002401.29518723
55Acute myeloid leukemia_Homo sapiens_hsa052211.27806055
56Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.27246880
57Pancreatic cancer_Homo sapiens_hsa052121.26319333
58Influenza A_Homo sapiens_hsa051641.25678374
59Shigellosis_Homo sapiens_hsa051311.24966324
60Basal cell carcinoma_Homo sapiens_hsa052171.24490824
61Folate biosynthesis_Homo sapiens_hsa007901.22350422
62Herpes simplex infection_Homo sapiens_hsa051681.22176439
63Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.21076636
64Adipocytokine signaling pathway_Homo sapiens_hsa049201.20816910
65Base excision repair_Homo sapiens_hsa034101.20211725
66Wnt signaling pathway_Homo sapiens_hsa043101.18897747
67RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.17624017
68Vitamin B6 metabolism_Homo sapiens_hsa007501.15887024
69Salmonella infection_Homo sapiens_hsa051321.15167590
70Dorso-ventral axis formation_Homo sapiens_hsa043201.14481387
71Insulin resistance_Homo sapiens_hsa049311.14381336
72Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.13632288
73Jak-STAT signaling pathway_Homo sapiens_hsa046301.13099934
74Fanconi anemia pathway_Homo sapiens_hsa034601.12831923
75Non-homologous end-joining_Homo sapiens_hsa034501.12578361
76Antigen processing and presentation_Homo sapiens_hsa046121.12307201
77Graft-versus-host disease_Homo sapiens_hsa053321.08738780
78Circadian rhythm_Homo sapiens_hsa047101.05345227
79Glutathione metabolism_Homo sapiens_hsa004801.04741864
80Viral carcinogenesis_Homo sapiens_hsa052031.03577795
81HIF-1 signaling pathway_Homo sapiens_hsa040661.03377922
82Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.02856330
83VEGF signaling pathway_Homo sapiens_hsa043700.97960496
84TGF-beta signaling pathway_Homo sapiens_hsa043500.96831421
85Transcriptional misregulation in cancer_Homo sapiens_hsa052020.96792785
86Hedgehog signaling pathway_Homo sapiens_hsa043400.96580797
87Notch signaling pathway_Homo sapiens_hsa043300.96520434
88Hematopoietic cell lineage_Homo sapiens_hsa046400.96415077
89Purine metabolism_Homo sapiens_hsa002300.96395965
90Prostate cancer_Homo sapiens_hsa052150.95867039
91Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.95134802
92Platelet activation_Homo sapiens_hsa046110.94468998
93Regulation of actin cytoskeleton_Homo sapiens_hsa048100.94305769
94p53 signaling pathway_Homo sapiens_hsa041150.92120143
95HTLV-I infection_Homo sapiens_hsa051660.89752476
96Bladder cancer_Homo sapiens_hsa052190.89249982
97Chemokine signaling pathway_Homo sapiens_hsa040620.87866191
98Lysine degradation_Homo sapiens_hsa003100.86792461
99Gap junction_Homo sapiens_hsa045400.85918909
100Hepatitis C_Homo sapiens_hsa051600.85433523
101Longevity regulating pathway - mammal_Homo sapiens_hsa042110.85196701
102Intestinal immune network for IgA production_Homo sapiens_hsa046720.85191482
103Phagosome_Homo sapiens_hsa041450.85002787
104Steroid biosynthesis_Homo sapiens_hsa001000.83935000
105Pyruvate metabolism_Homo sapiens_hsa006200.83563489
106Caffeine metabolism_Homo sapiens_hsa002320.82600194
107Neurotrophin signaling pathway_Homo sapiens_hsa047220.81959623
108beta-Alanine metabolism_Homo sapiens_hsa004100.81947237
109Lysosome_Homo sapiens_hsa041420.81396074
110Prolactin signaling pathway_Homo sapiens_hsa049170.81186671
111Central carbon metabolism in cancer_Homo sapiens_hsa052300.80970326
112Glycosaminoglycan degradation_Homo sapiens_hsa005310.80048282
113Renal cell carcinoma_Homo sapiens_hsa052110.78149996
114Colorectal cancer_Homo sapiens_hsa052100.76547993
115FoxO signaling pathway_Homo sapiens_hsa040680.76211791
116AMPK signaling pathway_Homo sapiens_hsa041520.75838566
117Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.75649009
118Allograft rejection_Homo sapiens_hsa053300.75474199
119Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.75443858
120Non-small cell lung cancer_Homo sapiens_hsa052230.72442916
121PI3K-Akt signaling pathway_Homo sapiens_hsa041510.71514357
122Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.71005833
123Pathways in cancer_Homo sapiens_hsa052000.68987844
124Fatty acid elongation_Homo sapiens_hsa000620.68348486
125Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.68017354
126Endometrial cancer_Homo sapiens_hsa052130.66974998
127Glioma_Homo sapiens_hsa052140.66800122
128Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.65967789
129Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.65633053
130Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.62673394
131Asthma_Homo sapiens_hsa053100.62509199
132Dilated cardiomyopathy_Homo sapiens_hsa054140.61238122
133Rheumatoid arthritis_Homo sapiens_hsa053230.60062017
134PPAR signaling pathway_Homo sapiens_hsa033200.59868266
135Insulin signaling pathway_Homo sapiens_hsa049100.58591489
136T cell receptor signaling pathway_Homo sapiens_hsa046600.57953840
137* Hippo signaling pathway_Homo sapiens_hsa043900.57113568
138Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.56414813
139Sphingolipid metabolism_Homo sapiens_hsa006000.55786784
140Endocytosis_Homo sapiens_hsa041440.53691715
141Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.53567881
142Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.53028245
143Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.52631080
144Thyroid hormone signaling pathway_Homo sapiens_hsa049190.52262060
145Rap1 signaling pathway_Homo sapiens_hsa040150.51638840
146Melanoma_Homo sapiens_hsa052180.51604226
147Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.47668759
148Long-term depression_Homo sapiens_hsa047300.46311462
149Protein digestion and absorption_Homo sapiens_hsa049740.45506521
150Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.44615474
151Vascular smooth muscle contraction_Homo sapiens_hsa042700.44325281
152Arginine and proline metabolism_Homo sapiens_hsa003300.42619361
153Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.40722828
154Protein export_Homo sapiens_hsa030600.40177000
155SNARE interactions in vesicular transport_Homo sapiens_hsa041300.36477828
156Ras signaling pathway_Homo sapiens_hsa040140.34876220
157Pancreatic secretion_Homo sapiens_hsa049720.31378887
158Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.30466243
159Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.30241223
160Melanogenesis_Homo sapiens_hsa049160.30038697
161MAPK signaling pathway_Homo sapiens_hsa040100.24506893

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