TAX1BP3

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 small, highly conserved protein with a single PDZ domain. PDZ (PSD-95/Discs large/ZO-1 homologous) domains promote protein-protein interactions that affect cell signaling, adhesion, protein scaffolding, and receptor and ion transporter functions. The encoded protein interacts with a large number of target proteins that play roles in signaling pathways; for example, it interacts with Rho A and glutaminase L and also acts as a negative regulator of the Wnt/beta-catenin signaling pathway. This protein was first identified as binding to the T-cell leukaemia virus (HTLV1) Tax oncoprotein. Overexpression of this gene has been implicated in altered cancer cell adhesion, migration and metastasis. The encoded protein also modulates the localization and density of inwardly rectifying potassium channel 2.3 (Kir2.3). To date, this protein has been shown to play a role in cell proliferation, development, stress response, and polarization. Alternative splicing results in multiple transcript variants encoding distinct isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1ribosomal small subunit biogenesis (GO:0042274)6.33759815
2mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.54800501
3natural killer cell activation involved in immune response (GO:0002323)5.37074285
4ATP synthesis coupled proton transport (GO:0015986)5.31285798
5energy coupled proton transport, down electrochemical gradient (GO:0015985)5.31285798
6hemidesmosome assembly (GO:0031581)4.84202389
7regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.52395593
8mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.36210501
9COPI coating of Golgi vesicle (GO:0048205)4.35101916
10Golgi transport vesicle coating (GO:0048200)4.35101916
11protein neddylation (GO:0045116)4.32417763
12regulation of vascular endothelial growth factor signaling pathway (GO:1900746)4.26126480
13desmosome organization (GO:0002934)4.20977729
14skin morphogenesis (GO:0043589)4.20076985
15protein maturation by protein folding (GO:0022417)4.17122686
16negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)4.03495218
17barbed-end actin filament capping (GO:0051016)4.01834922
18cell adhesion mediated by integrin (GO:0033627)3.99810546
19proteasome assembly (GO:0043248)3.98827826
20endodermal cell differentiation (GO:0035987)3.91653406
21epithelial cell-cell adhesion (GO:0090136)3.80224136
22type B pancreatic cell proliferation (GO:0044342)3.79326948
23germinal center formation (GO:0002467)3.78254375
24respiratory electron transport chain (GO:0022904)3.77349068
25protein retention in ER lumen (GO:0006621)3.70026990
26electron transport chain (GO:0022900)3.66050216
27adhesion of symbiont to host cell (GO:0044650)3.62588126
28virion attachment to host cell (GO:0019062)3.62588126
29cell-substrate junction assembly (GO:0007044)3.61676668
30negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.61611701
31basement membrane organization (GO:0071711)3.57524337
32protein localization to endosome (GO:0036010)3.56014305
33chaperone-mediated protein transport (GO:0072321)3.55913008
34maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.47498521
35endothelium development (GO:0003158)3.45212796
36wound healing, spreading of epidermal cells (GO:0035313)3.42997571
37keratinocyte development (GO:0003334)3.36891357
38positive regulation of receptor recycling (GO:0001921)3.33029681
39cellular copper ion homeostasis (GO:0006878)3.32784091
40limb bud formation (GO:0060174)3.32050599
41protein heterotrimerization (GO:0070208)3.31031732
42termination of RNA polymerase III transcription (GO:0006386)3.30886009
43transcription elongation from RNA polymerase III promoter (GO:0006385)3.30886009
44axon ensheathment in central nervous system (GO:0032291)3.27839680
45central nervous system myelination (GO:0022010)3.27839680
46actin filament depolymerization (GO:0030042)3.26165626
47stress fiber assembly (GO:0043149)3.20128592
48DNA damage response, detection of DNA damage (GO:0042769)3.18907224
49adhesion of symbiont to host (GO:0044406)3.17729960
50positive regulation of protein homodimerization activity (GO:0090073)3.17708582
51retina vasculature morphogenesis in camera-type eye (GO:0061299)3.17184026
52RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.16073312
53tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.16073312
54regulation of metalloenzyme activity (GO:0048552)3.11555342
55positive regulation of endothelial cell apoptotic process (GO:2000353)3.11384504
56cellular response to vitamin (GO:0071295)3.11358050
57vascular endothelial growth factor signaling pathway (GO:0038084)3.09906069
58substrate-dependent cell migration (GO:0006929)3.08745485
59regulation of early endosome to late endosome transport (GO:2000641)3.08272480
60GTP biosynthetic process (GO:0006183)3.08174005
61negative regulation of chondrocyte differentiation (GO:0032331)3.07826148
62sequestering of extracellular ligand from receptor (GO:0035581)3.06744474
63negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.05988043
64blastocyst development (GO:0001824)3.02588818
65collagen fibril organization (GO:0030199)3.02337920
66extracellular fibril organization (GO:0043206)3.00139750
67endothelial cell morphogenesis (GO:0001886)2.97201738
68chondrocyte proliferation (GO:0035988)2.96875389
69terpenoid biosynthetic process (GO:0016114)2.93952164
70cellular response to vitamin D (GO:0071305)2.92980448
71regulation of cellular amino acid metabolic process (GO:0006521)2.92322635
72mitochondrial respiratory chain complex I assembly (GO:0032981)2.91758057
73NADH dehydrogenase complex assembly (GO:0010257)2.91758057
74mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.91758057
75positive regulation of pseudopodium assembly (GO:0031274)2.91132518
76mesodermal cell differentiation (GO:0048333)2.89979657
77negative regulation of smooth muscle cell migration (GO:0014912)2.89009327
78hyaluronan catabolic process (GO:0030214)2.88598992
79cullin deneddylation (GO:0010388)2.87158205
80extracellular negative regulation of signal transduction (GO:1900116)2.83971407
81extracellular regulation of signal transduction (GO:1900115)2.83971407
82negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.83959014
83negative regulation of ligase activity (GO:0051352)2.83959014
84collagen metabolic process (GO:0032963)2.83570713
85positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.83475523
86positive regulation of actin filament depolymerization (GO:0030836)2.82095216
87DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.80892345
88deoxyribonucleoside diphosphate metabolic process (GO:0009186)2.80569825
89viral transcription (GO:0019083)2.80397144
90apoptotic cell clearance (GO:0043277)2.80121561
91dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.79617754
92muscle cell migration (GO:0014812)2.77674044
93extracellular matrix disassembly (GO:0022617)2.77375164
94multicellular organismal macromolecule metabolic process (GO:0044259)2.75926393
95protein deneddylation (GO:0000338)2.75635037
96platelet degranulation (GO:0002576)2.75461136
97cell migration involved in heart development (GO:0060973)2.74971369
98angiogenesis involved in wound healing (GO:0060055)2.74651832
99positive regulation of blood vessel endothelial cell migration (GO:0043536)2.73611358
100signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.73241701
101signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.73241701
102signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.73241701
1037-methylguanosine mRNA capping (GO:0006370)2.72547067
104adherens junction assembly (GO:0034333)2.72153510
105lymph vessel development (GO:0001945)2.72047568
106negative regulation of focal adhesion assembly (GO:0051895)2.71241911
107negative regulation of cell junction assembly (GO:1901889)2.71241911
108negative regulation of adherens junction organization (GO:1903392)2.71241911
109translational termination (GO:0006415)2.70876767
110atrioventricular valve morphogenesis (GO:0003181)2.69886060
111platelet aggregation (GO:0070527)2.69676003
112positive regulation of mitochondrial calcium ion concentration (GO:0051561)2.68924867
113intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.68877434
114signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.68877434
1157-methylguanosine RNA capping (GO:0009452)2.68657950
116RNA capping (GO:0036260)2.68657950
117pinocytosis (GO:0006907)2.67663756
118nucleotide transmembrane transport (GO:1901679)2.66899243
119collagen catabolic process (GO:0030574)2.66508251
120positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)2.66437294
121negative regulation of protein localization to plasma membrane (GO:1903077)2.66386002
122antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.65074562
123regulation of apoptotic process involved in morphogenesis (GO:1902337)2.64936391
124copper ion homeostasis (GO:0055070)2.64769104
125vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.63875704
126regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.63651789
127substrate adhesion-dependent cell spreading (GO:0034446)2.63488650
128multicellular organismal catabolic process (GO:0044243)2.63463932
129multicellular organismal metabolic process (GO:0044236)2.63342070
130regulation of mast cell degranulation (GO:0043304)2.62934952
131endothelial cell proliferation (GO:0001935)2.61701369
132peptidyl-proline hydroxylation (GO:0019511)2.61560852
133membrane raft organization (GO:0031579)2.61207752
134cotranslational protein targeting to membrane (GO:0006613)2.60336177
135regulation of integrin-mediated signaling pathway (GO:2001044)2.59973755
136kidney mesenchyme development (GO:0072074)2.59290712
137signal transduction involved in cell cycle checkpoint (GO:0072395)2.58950628
138signal transduction involved in DNA damage checkpoint (GO:0072422)2.58934371
139signal transduction involved in DNA integrity checkpoint (GO:0072401)2.58934371
140regulation of mast cell activation involved in immune response (GO:0033006)2.58564461
141gap junction assembly (GO:0016264)2.58293949
142cardiac epithelial to mesenchymal transition (GO:0060317)2.57902917
143regulation of transforming growth factor beta1 production (GO:0032908)2.57573981
144regulation of cardioblast differentiation (GO:0051890)2.57087976
145renal filtration (GO:0097205)2.56199351
146bundle of His cell to Purkinje myocyte communication (GO:0086069)2.55189776
147protein complex biogenesis (GO:0070271)2.54843186
148establishment of protein localization to mitochondrial membrane (GO:0090151)2.53788709
149cardiac right ventricle morphogenesis (GO:0003215)2.53601193
150positive regulation of Rho protein signal transduction (GO:0035025)2.53208993
151extracellular matrix assembly (GO:0085029)2.52008099
152protein targeting to ER (GO:0045047)2.51661081
153regulation of pseudopodium assembly (GO:0031272)2.51559534
154bone trabecula formation (GO:0060346)2.51291676
155cell-substrate adherens junction assembly (GO:0007045)2.51132529
156focal adhesion assembly (GO:0048041)2.51132529
157SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.51031619
158anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.49599229
159planar cell polarity pathway involved in neural tube closure (GO:0090179)2.49265393
160long-chain fatty acid biosynthetic process (GO:0042759)2.48853205
161ribosomal large subunit biogenesis (GO:0042273)2.48467453
162response to copper ion (GO:0046688)2.47873696
163cellular response to nutrient (GO:0031670)2.47514979
164isoprenoid biosynthetic process (GO:0008299)2.46846502
165retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.46514161
166negative regulation of stem cell proliferation (GO:2000647)2.46276052
167hypotonic response (GO:0006971)2.45590846
168antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)2.44922993
169positive regulation of osteoblast proliferation (GO:0033690)2.44918816
170cell junction assembly (GO:0034329)2.43484206
171endocardial cushion development (GO:0003197)2.43167608
172positive regulation of endothelial cell migration (GO:0010595)2.43133119
173maturation of SSU-rRNA (GO:0030490)2.43077285
174extracellular matrix organization (GO:0030198)2.42629475
175negative regulation of homotypic cell-cell adhesion (GO:0034111)2.41836638
176regulation of vasculogenesis (GO:2001212)2.40461863
177fibril organization (GO:0097435)2.38891701
178establishment of protein localization to endoplasmic reticulum (GO:0072599)2.37147862
179protein localization to endoplasmic reticulum (GO:0070972)2.35933549
180negative regulation of myoblast differentiation (GO:0045662)2.35465011
181lymphangiogenesis (GO:0001946)2.34275194
182termination of RNA polymerase I transcription (GO:0006363)2.33742060
183cyclooxygenase pathway (GO:0019371)2.33672021
184wound healing, spreading of cells (GO:0044319)2.33116523
185calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)2.33068688
186regulation of cellular amine metabolic process (GO:0033238)2.32121228
187translation (GO:0006412)2.29464302
188positive regulation of hair cycle (GO:0042635)2.29050741
189positive regulation of hair follicle development (GO:0051798)2.29050741
190copper ion transport (GO:0006825)2.28554846
191amino sugar catabolic process (GO:0046348)2.27656740

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1SOX9_22984422_ChIP-ChIP_TESTIS_Rat4.53350721
2CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human4.18241713
3TP63_17297297_ChIP-ChIP_HaCaT_Human3.88117700
4TRIM28_21343339_ChIP-Seq_HEK293_Human3.66044209
5TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.02523409
6GABP_17652178_ChIP-ChIP_JURKAT_Human2.76251191
7ELK3_25401928_ChIP-Seq_HUVEC_Human2.72339437
8TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.64316483
9KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.60869996
10E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.55443419
11CLOCK_20551151_ChIP-Seq_293T_Human2.41525682
12RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.37354676
13TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.34559406
14EST1_17652178_ChIP-ChIP_JURKAT_Human2.29040704
15EED_16625203_ChIP-ChIP_MESCs_Mouse2.23615081
16GBX2_23144817_ChIP-Seq_PC3_Human2.21289234
17PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.19924932
18WT1_19549856_ChIP-ChIP_CCG9911_Human2.19857443
19BMI1_23680149_ChIP-Seq_NPCS_Mouse2.14811064
20PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.12727370
21KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human2.07320258
22TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.05874792
23VDR_22108803_ChIP-Seq_LS180_Human2.04996788
24PHC1_16625203_ChIP-ChIP_MESCs_Mouse2.03047641
25* ESR2_21235772_ChIP-Seq_MCF-7_Human2.00549702
26RACK7_27058665_Chip-Seq_MCF-7_Human1.97027844
27HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.94869852
28ZNF263_19887448_ChIP-Seq_K562_Human1.92731906
29* SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.92690419
30* SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.92690419
31POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.90608372
32ELK1_22589737_ChIP-Seq_MCF10A_Human1.89695745
33CDX2_19796622_ChIP-Seq_MESCs_Mouse1.89645057
34SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.87665526
35STAT6_21828071_ChIP-Seq_BEAS2B_Human1.86653835
36THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.86553099
37LXR_22292898_ChIP-Seq_THP-1_Human1.82419751
38GATA2_21666600_ChIP-Seq_HMVEC_Human1.82092914
39ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.78255934
40GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.78116348
41SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.76469156
42ELK1_19687146_ChIP-ChIP_HELA_Human1.76340334
43HIF1A_21447827_ChIP-Seq_MCF-7_Human1.75178433
44KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.73193886
45CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.73043330
46NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.72564710
47ZFP57_27257070_Chip-Seq_ESCs_Mouse1.71304162
48CBX2_27304074_Chip-Seq_ESCs_Mouse1.70925778
49UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.70674970
50NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.68799531
51* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.67739842
52SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.66943886
53CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.65231938
54TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.64752315
55KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.64436321
56ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.64035185
57* ATF3_27146783_Chip-Seq_COLON_Human1.60174482
58HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.59293238
59P300_27058665_Chip-Seq_ZR-75-30cells_Human1.58851099
60EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.56049892
61SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.55533901
62RARG_19884340_ChIP-ChIP_MEFs_Mouse1.54397273
63ETS1_20019798_ChIP-Seq_JURKAT_Human1.53544124
64EZH2_27304074_Chip-Seq_ESCs_Mouse1.53450766
65KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.53263857
66KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.53263857
67KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.53263857
68PPAR_26484153_Chip-Seq_NCI-H1993_Human1.52566070
69POU5F1_16153702_ChIP-ChIP_HESCs_Human1.50813614
70RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.49723854
71SRY_22984422_ChIP-ChIP_TESTIS_Rat1.49450361
72FUS_26573619_Chip-Seq_HEK293_Human1.49441549
73SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.47364474
74TP53_18474530_ChIP-ChIP_U2OS_Human1.47156184
75* JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.46892978
76JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.46558711
77ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.45059846
78RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.43958053
79TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.41861888
80* HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.41321054
81JARID2_20064375_ChIP-Seq_MESCs_Mouse1.41056857
82TP53_22127205_ChIP-Seq_IMR90_Human1.39534161
83SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.39522481
84BRD4_25478319_ChIP-Seq_HGPS_Human1.38374277
85CDX2_20551321_ChIP-Seq_CACO-2_Human1.37426019
86SMC1_22415368_ChIP-Seq_MEFs_Mouse1.36382194
87BP1_19119308_ChIP-ChIP_Hs578T_Human1.35621235
88CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.35540762
89NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.34410555
90NRF2_20460467_ChIP-Seq_MEFs_Mouse1.34410555
91CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.32974677
92NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.32022033
93UBF1/2_26484160_Chip-Seq_HMECs_Human1.30914439
94SOX17_20123909_ChIP-Seq_XEN_Mouse1.30637608
95* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.30053506
96EP300_21415370_ChIP-Seq_HL-1_Mouse1.30038243
97SOX9_24532713_ChIP-Seq_HFSC_Mouse1.29247367
98SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.28594354
99NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.28528741
100* SOX2_27498859_Chip-Seq_STOMACH_Mouse1.27590399
101EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.26965773
102ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.26411055
103EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.25137188
104RNF2_18974828_ChIP-Seq_MESCs_Mouse1.24826721
105EZH2_18974828_ChIP-Seq_MESCs_Mouse1.24826721
106CREB1_15753290_ChIP-ChIP_HEK293T_Human1.24344778
107TET1_21451524_ChIP-Seq_MESCs_Mouse1.23542350
108JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.23059056
109SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.22626906
110ESR1_21235772_ChIP-Seq_MCF-7_Human1.21089750
111SMC3_22415368_ChIP-Seq_MEFs_Mouse1.20094713
112CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.18938975
113TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.18513079
114JARID2_20075857_ChIP-Seq_MESCs_Mouse1.17148342
115CJUN_26792858_Chip-Seq_BT549_Human1.16471309
116DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.16426015
117RXR_22158963_ChIP-Seq_LIVER_Mouse1.16065926
118ER_23166858_ChIP-Seq_MCF-7_Human1.15774708
119SRF_21415370_ChIP-Seq_HL-1_Mouse1.15683946
120PCGF2_27294783_Chip-Seq_ESCs_Mouse1.14477044
121TAF15_26573619_Chip-Seq_HEK293_Human1.13877350
122SALL4_18804426_ChIP-ChIP_XEN_Mouse1.12473647
123SOX2_20726797_ChIP-Seq_SW620_Human1.12319582
124KLF4_18555785_ChIP-Seq_MESCs_Mouse1.10713515
125POU3F2_20337985_ChIP-ChIP_501MEL_Human1.09916983
126FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.08177720
127CTBP1_25329375_ChIP-Seq_LNCAP_Human1.07346977
128NANOG_18555785_Chip-Seq_ESCs_Mouse1.06170527
129TBX20_22328084_ChIP-Seq_HEART_Mouse1.06095253
130TBX20_22080862_ChIP-Seq_HEART_Mouse1.06095253
131NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.05442362
132TCF3_18692474_ChIP-Seq_MEFs_Mouse1.05052963
133CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.04009611
134TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.03698422
135E2F1_18555785_Chip-Seq_ESCs_Mouse1.01706141
136P300_19829295_ChIP-Seq_ESCs_Human1.01108025
137SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.00650939
138CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.00303650
139ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.00119989
140TOP2B_26459242_ChIP-Seq_MCF-7_Human0.99882107
141PCGF2_27294783_Chip-Seq_NPCs_Mouse0.99385969
142OCT4_18692474_ChIP-Seq_MEFs_Mouse0.99281123
143UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.98899709
144NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.98885604
145TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.98786720
146FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.97061735
147AR_21909140_ChIP-Seq_LNCAP_Human0.96899513
148NFE2_27457419_Chip-Seq_LIVER_Mouse0.96837857
149FLI1_27457419_Chip-Seq_LIVER_Mouse0.95491785
150P53_22387025_ChIP-Seq_ESCs_Mouse0.95147767
151SUZ12_18555785_Chip-Seq_ESCs_Mouse0.94970372
152MEF2A_21415370_ChIP-Seq_HL-1_Mouse0.94950855
153TP53_20018659_ChIP-ChIP_R1E_Mouse0.94887630
154CTBP2_25329375_ChIP-Seq_LNCAP_Human0.94780332
155EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.94746593
156SOX2_18692474_ChIP-Seq_MEFs_Mouse0.94694665
157EWS_26573619_Chip-Seq_HEK293_Human0.94278407
158STAT3_18555785_Chip-Seq_ESCs_Mouse0.94086735
159OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.93753210
160CMYC_18555785_Chip-Seq_ESCs_Mouse0.93644054
161STAT3_1855785_ChIP-Seq_MESCs_Mouse0.93230668
162CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.93189794
163RBPJ_22232070_ChIP-Seq_NCS_Mouse0.92926739
164SOX2_18555785_Chip-Seq_ESCs_Mouse0.92718205
165PPARA_22158963_ChIP-Seq_LIVER_Mouse0.92589459
166SUZ12_27294783_Chip-Seq_NPCs_Mouse0.92079026
167PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.91737176
168KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.91665471
169KDM2B_26808549_Chip-Seq_SUP-B15_Human0.91502449
170NANOG_18692474_ChIP-Seq_MEFs_Mouse0.91497650
171SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.91307270
172* GATA4_25053715_ChIP-Seq_YYC3_Human0.90237968
173* ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.89998507
174GATA6_25053715_ChIP-Seq_YYC3_Human0.89944616
175SA1_22415368_ChIP-Seq_MEFs_Mouse0.89850753
176TET1_21490601_ChIP-Seq_MESCs_Mouse0.89746493
177P300_18555785_Chip-Seq_ESCs_Mouse0.89721875
178NMYC_18555785_Chip-Seq_ESCs_Mouse0.89327452
179CTCF_27219007_Chip-Seq_ERYTHROID_Human0.89262229
180TP63_22573176_ChIP-Seq_HFKS_Human0.88441156
181FOXO3_23340844_ChIP-Seq_DLD1_Human0.88283152
182RAD21_21589869_ChIP-Seq_MESCs_Mouse0.87418849
183CTCF_18555785_ChIP-Seq_MESCs_Mouse0.87127262
184EOMES_21245162_ChIP-Seq_HESCs_Human0.85927853
185TP53_23651856_ChIP-Seq_MEFs_Mouse0.84814631
186ZFP281_18757296_ChIP-ChIP_E14_Mouse0.84738296

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009379_abnormal_foot_pigmentation4.26356889
2MP0003705_abnormal_hypodermis_morpholog4.25661557
3MP0003566_abnormal_cell_adhesion3.53277740
4MP0004272_abnormal_basement_membrane3.46399430
5MP0008438_abnormal_cutaneous_collagen3.29933248
6MP0005171_absent_coat_pigmentation3.04986897
7MP0005409_darkened_coat_color2.71908441
8MP0003950_abnormal_plasma_membrane2.64140107
9MP0003941_abnormal_skin_development2.46941624
10MP0006054_spinal_hemorrhage2.41488019
11MP0003828_pulmonary_edema2.39244049
12MP0003880_abnormal_central_pattern2.37667627
13MP0005023_abnormal_wound_healing2.30733801
14MP0002295_abnormal_pulmonary_circulatio2.30212027
15MP0001879_abnormal_lymphatic_vessel2.25558585
16MP0003136_yellow_coat_color2.24861881
17MP0001529_abnormal_vocalization2.15732510
18MP0001188_hyperpigmentation2.13180161
19MP0002102_abnormal_ear_morphology2.11978543
20MP0005503_abnormal_tendon_morphology2.11724392
21MP0009840_abnormal_foam_cell2.05038765
22MP0005623_abnormal_meninges_morphology2.02134264
23MP0005275_abnormal_skin_tensile2.00131740
24MP0002877_abnormal_melanocyte_morpholog1.93962660
25MP0003191_abnormal_cellular_cholesterol1.88675657
26MP0001542_abnormal_bone_strength1.88493225
27MP0002060_abnormal_skin_morphology1.88104073
28MP0001849_ear_inflammation1.87260426
29MP0001905_abnormal_dopamine_level1.85143215
30MP0010234_abnormal_vibrissa_follicle1.84413369
31MP0009384_cardiac_valve_regurgitation1.82824959
32MP0005058_abnormal_lysosome_morphology1.81278079
33MP0010030_abnormal_orbit_morphology1.80179601
34MP0010368_abnormal_lymphatic_system1.78311233
35MP0000762_abnormal_tongue_morphology1.71049651
36MP0000372_irregular_coat_pigmentation1.70516053
37MP0003718_maternal_effect1.68512997
38MP0010352_gastrointestinal_tract_polyps1.68400790
39MP0003279_aneurysm1.67136297
40MP0005501_abnormal_skin_physiology1.65115455
41MP0000566_synostosis1.64376630
42MP0001727_abnormal_embryo_implantation1.61444740
43MP0003385_abnormal_body_wall1.55462163
44MP0001958_emphysema1.54444705
45MP0002163_abnormal_gland_morphology1.52390198
46MP0005595_abnormal_vascular_smooth1.51422232
47MP0002938_white_spotting1.49994332
48MP0005408_hypopigmentation1.48437934
49MP0008260_abnormal_autophagy1.47394558
50MP0004381_abnormal_hair_follicle1.46909837
51MP0009053_abnormal_anal_canal1.46696635
52MP0004883_abnormal_blood_vessel1.42712742
53MP0000751_myopathy1.42471892
54MP0000049_abnormal_middle_ear1.42462982
55MP0003315_abnormal_perineum_morphology1.42152539
56MP0005360_urolithiasis1.41416008
57MP0005464_abnormal_platelet_physiology1.40779701
58MP0002282_abnormal_trachea_morphology1.37316766
59MP0003938_abnormal_ear_development1.36964231
60MP0006138_congestive_heart_failure1.36422037
61MP0004484_altered_response_of1.36045758
62MP0000858_altered_metastatic_potential1.32882698
63MP0004858_abnormal_nervous_system1.31099939
64MP0006292_abnormal_olfactory_placode1.31005685
65MP0000467_abnormal_esophagus_morphology1.30144254
66MP0009780_abnormal_chondrocyte_physiolo1.29924289
67MP0005165_increased_susceptibility_to1.29066562
68MP0003453_abnormal_keratinocyte_physiol1.26408718
69MP0001243_abnormal_dermal_layer1.24940200
70MP0002896_abnormal_bone_mineralization1.24574884
71MP0005164_abnormal_response_to1.22866096
72MP0009250_abnormal_appendicular_skeleto1.19769321
73MP0005451_abnormal_body_composition1.18726286
74MP0008004_abnormal_stomach_pH1.17537561
75MP0005388_respiratory_system_phenotype1.16629385
76MP0002133_abnormal_respiratory_system1.16629385
77MP0005508_abnormal_skeleton_morphology1.16090475
78MP0003937_abnormal_limbs/digits/tail_de1.15440064
79MP0000013_abnormal_adipose_tissue1.14619702
80MP0003122_maternal_imprinting1.14360332
81MP0005367_renal/urinary_system_phenotyp1.13589910
82MP0000516_abnormal_urinary_system1.13589910
83MP0003300_gastrointestinal_ulcer1.13567328
84MP0006276_abnormal_autonomic_nervous1.13189124
85MP0008932_abnormal_embryonic_tissue1.12717842
86MP0002132_abnormal_respiratory_system1.10985446
87MP0001346_abnormal_lacrimal_gland1.10537832
88MP0000383_abnormal_hair_follicle1.05212640
89MP0005084_abnormal_gallbladder_morpholo1.03636488
90MP0010386_abnormal_urinary_bladder1.02867264
91MP0000462_abnormal_digestive_system1.02588048
92MP0000681_abnormal_thyroid_gland1.01909935
93MP0001216_abnormal_epidermal_layer1.00977149
94MP0000778_abnormal_nervous_system1.00098489
95MP0002837_dystrophic_cardiac_calcinosis0.99780174
96MP0003755_abnormal_palate_morphology0.98151243
97MP0000537_abnormal_urethra_morphology0.97983387
98MP0010771_integument_phenotype0.97101845
99MP0003724_increased_susceptibility_to0.96289293
100MP0004133_heterotaxia0.95968251
101MP0000920_abnormal_myelination0.95606965
102MP0002277_abnormal_respiratory_mucosa0.95158553
103MP0000579_abnormal_nail_morphology0.94730131
104MP0002127_abnormal_cardiovascular_syste0.93377353
105MP0004782_abnormal_surfactant_physiolog0.91658378
106MP0002249_abnormal_larynx_morphology0.89376312
107MP0005390_skeleton_phenotype0.88703523
108MP0004742_abnormal_vestibular_system0.88308578
109MP0003448_altered_tumor_morphology0.88204430
110MP0000534_abnormal_ureter_morphology0.88073911
111MP0005197_abnormal_uvea_morphology0.87622623
112MP0002972_abnormal_cardiac_muscle0.87582431
113MP0000026_abnormal_inner_ear0.87489815
114MP0000678_abnormal_parathyroid_gland0.87386310
115MP0003186_abnormal_redox_activity0.85719146
116MP0000003_abnormal_adipose_tissue0.85634647
117MP0004084_abnormal_cardiac_muscle0.84415860
118MP0002736_abnormal_nociception_after0.84268932
119MP0001440_abnormal_grooming_behavior0.81671215
120MP0000767_abnormal_smooth_muscle0.81285098
121MP0000343_altered_response_to0.81010828
122MP0005395_other_phenotype0.80622770
123MP0001614_abnormal_blood_vessel0.80177683
124MP0003329_amyloid_beta_deposits0.79816682
125MP0000647_abnormal_sebaceous_gland0.79605398
126MP0000538_abnormal_urinary_bladder0.78937866
127MP0001299_abnormal_eye_distance/0.78091415
128MP0002148_abnormal_hypersensitivity_rea0.77811059
129MP0005620_abnormal_muscle_contractility0.77587997
130MP0003091_abnormal_cell_migration0.76885910
131MP0010678_abnormal_skin_adnexa0.76672389
132MP0005257_abnormal_intraocular_pressure0.76011882
133MP0000733_abnormal_muscle_development0.75301675
134MP0005377_hearing/vestibular/ear_phenot0.75009140
135MP0003878_abnormal_ear_physiology0.75009140
136MP0002089_abnormal_postnatal_growth/wei0.74996480
137MP0002796_impaired_skin_barrier0.74875851
138MP0004510_myositis0.73979436
139MP0005193_abnormal_anterior_eye0.73834650
140MP0000249_abnormal_blood_vessel0.73524600
141MP0002876_abnormal_thyroid_physiology0.73358193
142MP0000750_abnormal_muscle_regeneration0.73223057
143MP0008789_abnormal_olfactory_epithelium0.73212355
144MP0005330_cardiomyopathy0.72651218
145MP0002128_abnormal_blood_circulation0.72090573
146MP0001533_abnormal_skeleton_physiology0.66388550
147MP0002998_abnormal_bone_remodeling0.65951980
148MP0002254_reproductive_system_inflammat0.65503938
149MP0000465_gastrointestinal_hemorrhage0.64973051
150MP0000163_abnormal_cartilage_morphology0.64561132
151MP0000749_muscle_degeneration0.63984424
152MP0000490_abnormal_crypts_of0.61699921
153MP0001915_intracranial_hemorrhage0.61677774
154MP0002113_abnormal_skeleton_development0.59757892
155MP0005670_abnormal_white_adipose0.59344832
156MP0009931_abnormal_skin_appearance0.59260718
157MP0004947_skin_inflammation0.58603114
158MP0005083_abnormal_biliary_tract0.56683465
159MP0001756_abnormal_urination0.56545156

Predicted human phenotypes

RankGene SetZ-score
1Congenital nonbullous ichthyosiform erythroderma (HP:0007479)4.24581403
2Parakeratosis (HP:0001036)4.16398569
3Acute necrotizing encephalopathy (HP:0006965)4.13882597
4Aortic dissection (HP:0002647)4.01739600
5Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.80681378
6Aortic aneurysm (HP:0004942)3.79119806
7Ankle contracture (HP:0006466)3.78921369
8Muscle abnormality related to mitochondrial dysfunction (HP:0003800)3.77079208
9Renal Fanconi syndrome (HP:0001994)3.72544729
10Vertebral compression fractures (HP:0002953)3.66661029
11Fragile skin (HP:0001030)3.64898532
12Increased hepatocellular lipid droplets (HP:0006565)3.60626007
13Mitochondrial inheritance (HP:0001427)3.51374744
14Cervical subluxation (HP:0003308)3.48720097
15Congenital ichthyosiform erythroderma (HP:0007431)3.42588208
16Arterial tortuosity (HP:0005116)3.36651813
17Progressive macrocephaly (HP:0004481)3.33357805
18Abnormal mitochondria in muscle tissue (HP:0008316)3.31715196
19Spinal rigidity (HP:0003306)3.27925036
20Premature rupture of membranes (HP:0001788)3.27373542
21Osteolytic defects of the hand bones (HP:0009699)3.09411128
22Osteolytic defects of the phalanges of the hand (HP:0009771)3.09411128
23Bladder diverticulum (HP:0000015)3.01677778
24Wormian bones (HP:0002645)2.97999486
25Lipid accumulation in hepatocytes (HP:0006561)2.97149886
26Abnormality of dentin (HP:0010299)2.96404210
27Abnormality of glycolysis (HP:0004366)2.88794317
28Increased serum pyruvate (HP:0003542)2.88794317
29Absent hand (HP:0004050)2.86031794
30Blue sclerae (HP:0000592)2.84169098
31Increased CSF lactate (HP:0002490)2.82391361
32Exertional dyspnea (HP:0002875)2.79577846
33Acute encephalopathy (HP:0006846)2.79439884
34Congenital, generalized hypertrichosis (HP:0004540)2.78460794
35Breast hypoplasia (HP:0003187)2.76359477
36Double outlet right ventricle (HP:0001719)2.71627178
37Congenital malformation of the right heart (HP:0011723)2.71627178
38Exercise intolerance (HP:0003546)2.70833518
39Short nail (HP:0001799)2.69924123
40Abnormality of the axillary hair (HP:0100134)2.61844963
41Abnormality of secondary sexual hair (HP:0009888)2.61844963
42Granulocytopenia (HP:0001913)2.61842248
43Hepatocellular necrosis (HP:0001404)2.61278749
44Cerebral aneurysm (HP:0004944)2.60022348
45Hepatosplenomegaly (HP:0001433)2.58956028
46Abnormality of macrophages (HP:0004311)2.56911467
47Adrenal hypoplasia (HP:0000835)2.56164658
48Cardiovascular calcification (HP:0011915)2.55741066
49Mildly elevated creatine phosphokinase (HP:0008180)2.55258590
50Neonatal short-limb short stature (HP:0008921)2.54843066
51Increased mean platelet volume (HP:0011877)2.54733143
52Abnormality of renal resorption (HP:0011038)2.54048049
53Dilatation of the ascending aorta (HP:0005111)2.53856699
54Shallow orbits (HP:0000586)2.53708976
55Genu recurvatum (HP:0002816)2.46063116
56Type 1 muscle fiber predominance (HP:0003803)2.45055823
57Distal upper limb amyotrophy (HP:0007149)2.43449066
58Upper limb amyotrophy (HP:0009129)2.43449066
59Distal lower limb amyotrophy (HP:0008944)2.42047909
60Broad metatarsal (HP:0001783)2.41245210
61Reduced subcutaneous adipose tissue (HP:0003758)2.40177050
62Increased connective tissue (HP:0009025)2.38665655
63Achilles tendon contracture (HP:0001771)2.37924275
64Soft skin (HP:0000977)2.34566927
65Conical tooth (HP:0000698)2.34525301
66Pulmonary artery stenosis (HP:0004415)2.33288899
67Menorrhagia (HP:0000132)2.32704004
68Optic disc pallor (HP:0000543)2.32485010
69Abnormality of the Achilles tendon (HP:0005109)2.32020403
70Elbow flexion contracture (HP:0002987)2.31117887
71Progressive external ophthalmoplegia (HP:0000590)2.31036235
72Hydroureter (HP:0000072)2.30937900
73Abnormality of the fetal cardiovascular system (HP:0010948)2.29898611
74Abnormal umbilical cord blood vessels (HP:0011403)2.29898611
75Single umbilical artery (HP:0001195)2.29898611
76Reticulocytopenia (HP:0001896)2.29597919
77Aplasia of the musculature (HP:0100854)2.29315796
78Respiratory difficulties (HP:0002880)2.27108586
79Peritonitis (HP:0002586)2.26833097
80Respiratory failure (HP:0002878)2.26514934
81Increased variability in muscle fiber diameter (HP:0003557)2.25860547
82Slender build (HP:0001533)2.25644890
83Split foot (HP:0001839)2.24849552
84Generalized amyotrophy (HP:0003700)2.24164085
85Natal tooth (HP:0000695)2.24162512
86Mitral stenosis (HP:0001718)2.23433269
87Upper limb muscle weakness (HP:0003484)2.22115795
88Spondylolisthesis (HP:0003302)2.21686276
89Hepatic necrosis (HP:0002605)2.20400792
90Macrocytic anemia (HP:0001972)2.19507980
91Joint stiffness (HP:0001387)2.17491045
92Abnormal platelet volume (HP:0011876)2.17321159
93Abnormality of the acetabulum (HP:0003170)2.16532899
94Thin bony cortex (HP:0002753)2.16083146
95Alopecia of scalp (HP:0002293)2.16053961
96Asymmetry of the thorax (HP:0001555)2.15892260
97Abnormal delivery (HP:0001787)2.14572950
98Testicular atrophy (HP:0000029)2.13614678
99Thick nail (HP:0001805)2.12958038
100Fragile nails (HP:0001808)2.11631485
101Nasolacrimal duct obstruction (HP:0000579)2.10637906
102Vascular calcification (HP:0004934)2.10439743
103Mitral regurgitation (HP:0001653)2.10262556
1043-Methylglutaconic aciduria (HP:0003535)2.09219742
105Trismus (HP:0000211)2.08259697
106Neurofibrillary tangles (HP:0002185)2.08200309
107Aplasia cutis congenita (HP:0001057)2.05531803
108Abnormality of the distal phalanges of the toes (HP:0010182)2.05463973
109Amniotic constriction ring (HP:0009775)2.04960752
110Abnormality of placental membranes (HP:0011409)2.04960752
111Aplasia/Hypoplasia involving the musculature (HP:0001460)2.04891893
112Abnormality of skeletal muscle fiber size (HP:0012084)2.03831185
113Joint laxity (HP:0001388)2.03164754
114Abnormality of the umbilical cord (HP:0010881)1.99832204
115Hyperextensible skin (HP:0000974)1.99816944
116Degeneration of the lateral corticospinal tracts (HP:0002314)1.98803607
117Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.98803607
118Wrist flexion contracture (HP:0001239)1.98300069
119Ulnar bowing (HP:0003031)1.97882544
120Aneurysm (HP:0002617)1.97568748
121Prolonged neonatal jaundice (HP:0006579)1.97420173
122Sensory axonal neuropathy (HP:0003390)1.95705158
123Mitral valve prolapse (HP:0001634)1.95183837
124Abnormal hemoglobin (HP:0011902)1.90737837
125Short hallux (HP:0010109)1.87272915
126Nonimmune hydrops fetalis (HP:0001790)1.87102144
127Myocardial infarction (HP:0001658)1.85838023
128Aortic valve stenosis (HP:0001650)1.85800319
129Coxa vara (HP:0002812)1.85524055
130Hand muscle atrophy (HP:0009130)1.85310371
131Glucose intolerance (HP:0000833)1.85258464
132Vascular tortuosity (HP:0004948)1.84784246
133Petechiae (HP:0000967)1.84517153
134Atrophic scars (HP:0001075)1.84463815
135Disproportionate tall stature (HP:0001519)1.84144110
136Abnormality of carpal bone ossification (HP:0006257)1.83923722
137Abnormality of glutamine family amino acid metabolism (HP:0010902)1.83894304
138Spinal cord compression (HP:0002176)1.83647826
139Hypoplastic left heart (HP:0004383)1.83326981
140Hyperphosphaturia (HP:0003109)1.83287545
141Increased intramyocellular lipid droplets (HP:0012240)1.82600802
142Aortic regurgitation (HP:0001659)1.82312635
143Right ventricular cardiomyopathy (HP:0011663)1.81635372
144Back pain (HP:0003418)1.80960687
145Increased serum lactate (HP:0002151)1.80893271
146Distal lower limb muscle weakness (HP:0009053)1.80829051
147Concave nail (HP:0001598)1.80698032
148Leukodystrophy (HP:0002415)1.80568048
149Hydroxyprolinuria (HP:0003080)1.80515196
150Abnormality of proline metabolism (HP:0010907)1.80515196
151Glycosuria (HP:0003076)1.80302898
152Abnormality of urine glucose concentration (HP:0011016)1.80302898
153Ileus (HP:0002595)1.79743131
154Nail dystrophy (HP:0008404)1.79039587
155Follicular hyperkeratosis (HP:0007502)1.77667883
156Protrusio acetabuli (HP:0003179)1.77647575
157Rough bone trabeculation (HP:0100670)1.76454737
158Abnormality of the lacrimal duct (HP:0011481)1.76422277
159Absent radius (HP:0003974)1.75245018
160Abnormalities of placenta or umbilical cord (HP:0001194)1.75209650
161Delusions (HP:0000746)1.74722382
162Cupped ear (HP:0000378)1.74622395
163Fibular aplasia (HP:0002990)1.74568505
164Axonal loss (HP:0003447)1.74354568
165Abnormality of the nasolacrimal system (HP:0000614)1.73989460
166Difficulty climbing stairs (HP:0003551)1.72894276
167Biconcave vertebral bodies (HP:0004586)1.72892683
168Thin skin (HP:0000963)1.72858647
169Hypomagnesemia (HP:0002917)1.72615106
170Abnormal ossification of hand bones (HP:0005921)1.71637618
171Hypoplastic heart (HP:0001961)1.71369242
172Overfolded helix (HP:0000396)1.71063199
173Acanthosis nigricans (HP:0000956)1.70950820
174Pterygium (HP:0001059)1.69513214
175Lower limb amyotrophy (HP:0007210)1.68067800
176Aplasia/Hypoplasia of the sacrum (HP:0008517)1.67407522
177Abnormal ciliary motility (HP:0012262)1.67164296
178Long toe (HP:0010511)1.66849516
179Xerostomia (HP:0000217)1.66594171
180Hyperparathyroidism (HP:0000843)1.66453747
181Aplasia/hypoplasia of the uterus (HP:0008684)1.66270709
182Aplasia involving forearm bones (HP:0009822)1.65883385
183Absent forearm bone (HP:0003953)1.65883385
184Ectopia lentis (HP:0001083)1.65786765
185Ovoid vertebral bodies (HP:0003300)1.65659348
186Purpura (HP:0000979)1.65654465
187Breech presentation (HP:0001623)1.65586429
188Fused cervical vertebrae (HP:0002949)1.64235549

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PBK2.92240936
2LMTK22.87334597
3MST42.75973429
4TIE12.64848809
5MYLK2.58957959
6PTK22.48848840
7BUB12.37929871
8STK162.34416944
9NME12.27771893
10STK392.23335014
11BMPR1B2.21453027
12PDGFRA2.18285435
13BMPR22.12909405
14ZAK2.11197469
15TTN2.08071861
16EPHA22.02800507
17ERN11.98059768
18KDR1.94312601
19TGFBR21.93139367
20RIPK11.92675288
21LIMK11.89899303
22CASK1.88835549
23IRAK31.82371363
24NUAK11.80042726
25TRIB31.75016945
26DDR21.73342413
27NTRK11.67940342
28PTK2B1.66651481
29BCR1.66277107
30PLK41.65840928
31EPHB21.65814445
32NME21.64709192
33PRKG21.62971278
34GRK71.62962703
35EPHA41.57650440
36PNCK1.56612639
37IRAK41.49798242
38STK38L1.48569352
39TESK11.47500358
40SIK11.46831618
41FGR1.42771814
42PLK21.39641205
43EIF2AK31.37560876
44ARAF1.36685289
45FER1.36327607
46IRAK21.35027909
47PAK21.32717188
48MAPKAPK31.29642384
49ABL21.27432946
50SMG11.24639576
51DYRK21.24090001
52ERBB41.22529200
53OXSR11.19802695
54DAPK31.19280310
55VRK21.17737640
56SRPK11.17342842
57RIPK41.16544092
58BMX1.16122452
59EIF2AK11.15629758
60MAP3K121.15281810
61CAMK2B1.13659654
62PIM21.08752534
63AKT31.08396090
64GRK11.07214081
65WEE11.06985761
66FLT31.06782580
67IRAK11.06387323
68VRK11.04948162
69TAOK21.04097107
70OBSCN1.01893697
71ROCK21.00228395
72ADRBK20.98530913
73TNIK0.97333952
74MARK10.97074217
75EIF2AK20.95947650
76NEK90.95528105
77MST1R0.94171875
78PRKD20.92868638
79PLK30.89691530
80CAMK2D0.89601059
81MET0.88764576
82WNK40.88569798
83PKN20.85318642
84MKNK10.84800180
85LATS20.83367889
86CLK10.82139129
87PRKCE0.80322790
88CDC42BPA0.78940124
89MUSK0.77073815
90DMPK0.76905048
91PTK60.76668108
92NEK60.74542070
93CAMK2A0.73349564
94TLK10.72715012
95YES10.72272988
96BRAF0.70973816
97LRRK20.70758510
98ICK0.70261998
99ZAP700.69717669
100MAPKAPK50.68863325
101MAP3K60.67602771
102RPS6KA20.66294167
103ROCK10.65775640
104PAK10.64795865
105PAK30.63832505
106MAP2K30.61835686
107MOS0.61676076
108EPHB10.60932766
109STK240.60789524
110PDGFRB0.60337581
111MAP2K70.59411930
112STK380.58874750
113LATS10.57934586
114ILK0.57171843
115MAP3K80.56802996
116AURKA0.55232651
117GSK3A0.55047168
118MAP2K10.54200165
119PAK40.53946118
120MAP3K110.52190913
121PIK3CA0.51369429
122ERBB30.51301366
123BLK0.50905441
124MKNK20.49802775
125TTK0.49115407
126CAMK2G0.49016794
127PIK3CG0.48984919
128TRPM70.48904908
129PKN10.48839272
130TGFBR10.48662186
131EPHA30.47388955
132MAP3K30.47201915
133TESK20.46758700
134STK100.46696462
135PRKD10.46511858
136INSRR0.44717462
137DAPK10.44237848
138PRKCI0.44204013
139STK30.43751740
140FES0.43671833
141PRPF4B0.43535344
142GRK50.43156482
143NEK10.41381324
144MAPK130.39864957
145ADRBK10.38994695
146PDK20.38856911
147CDK80.37562268
148RPS6KA50.37159190
149PDPK10.35176151
150TBK10.32864808
151SRC0.31121232
152MAPKAPK20.30971525
153SIK30.30540881
154PRKCD0.28157928
155MTOR0.27412344

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001904.51416534
2Proteasome_Homo sapiens_hsa030504.26681564
3Ribosome_Homo sapiens_hsa030103.77761765
4Parkinsons disease_Homo sapiens_hsa050123.41031498
5RNA polymerase_Homo sapiens_hsa030203.05339278
6Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.91451458
7Alzheimers disease_Homo sapiens_hsa050102.89197322
8Huntingtons disease_Homo sapiens_hsa050162.82951669
9Bacterial invasion of epithelial cells_Homo sapiens_hsa051002.76469903
10Galactose metabolism_Homo sapiens_hsa000522.38513799
11Glycosaminoglycan degradation_Homo sapiens_hsa005312.37624257
12Protein export_Homo sapiens_hsa030602.32751375
13Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.14137081
14Cardiac muscle contraction_Homo sapiens_hsa042601.88370083
15Pentose phosphate pathway_Homo sapiens_hsa000301.79972772
16Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.73916414
17Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.72872524
18Glutathione metabolism_Homo sapiens_hsa004801.68313466
19Arachidonic acid metabolism_Homo sapiens_hsa005901.61901563
20Bladder cancer_Homo sapiens_hsa052191.61775214
21Cyanoamino acid metabolism_Homo sapiens_hsa004601.60375044
22Proteoglycans in cancer_Homo sapiens_hsa052051.58940440
23Ether lipid metabolism_Homo sapiens_hsa005651.55298336
24Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.51215452
25Rheumatoid arthritis_Homo sapiens_hsa053231.46717614
26Renin-angiotensin system_Homo sapiens_hsa046141.46095590
27Fructose and mannose metabolism_Homo sapiens_hsa000511.45614962
28Collecting duct acid secretion_Homo sapiens_hsa049661.40689189
29Lysosome_Homo sapiens_hsa041421.36682466
30Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.35132819
31Vibrio cholerae infection_Homo sapiens_hsa051101.34618938
32Pyrimidine metabolism_Homo sapiens_hsa002401.30070748
33Steroid biosynthesis_Homo sapiens_hsa001001.29495040
342-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.25052551
35ECM-receptor interaction_Homo sapiens_hsa045121.24113521
36Tight junction_Homo sapiens_hsa045301.20937430
37Axon guidance_Homo sapiens_hsa043601.18937047
38Sphingolipid metabolism_Homo sapiens_hsa006001.17131102
39Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.16380887
40N-Glycan biosynthesis_Homo sapiens_hsa005101.15520787
41Sulfur relay system_Homo sapiens_hsa041221.15502815
42Basal transcription factors_Homo sapiens_hsa030221.14948969
43Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.14028864
44Mineral absorption_Homo sapiens_hsa049781.13628354
45Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.10800225
46Fat digestion and absorption_Homo sapiens_hsa049751.07425205
47Central carbon metabolism in cancer_Homo sapiens_hsa052301.05681568
48Endocytosis_Homo sapiens_hsa041441.05341523
49Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.03686023
50Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.03045179
51Fatty acid elongation_Homo sapiens_hsa000620.98274696
52Phagosome_Homo sapiens_hsa041450.98163097
53Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.97872275
54TGF-beta signaling pathway_Homo sapiens_hsa043500.93417881
55Serotonergic synapse_Homo sapiens_hsa047260.93370612
56Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.90866513
57Spliceosome_Homo sapiens_hsa030400.89787226
58Biosynthesis of amino acids_Homo sapiens_hsa012300.88947492
59Prion diseases_Homo sapiens_hsa050200.85642363
60Purine metabolism_Homo sapiens_hsa002300.85548450
61Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.85058538
62Gap junction_Homo sapiens_hsa045400.84592316
63Platelet activation_Homo sapiens_hsa046110.84221891
64Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.83829393
65Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.83514320
66Shigellosis_Homo sapiens_hsa051310.80973105
67Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.80039290
68Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.79999847
69SNARE interactions in vesicular transport_Homo sapiens_hsa041300.79409866
70Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.79345033
71Malaria_Homo sapiens_hsa051440.77278606
72Sulfur metabolism_Homo sapiens_hsa009200.77103056
73Nucleotide excision repair_Homo sapiens_hsa034200.76637267
74Starch and sucrose metabolism_Homo sapiens_hsa005000.75799740
75Hippo signaling pathway_Homo sapiens_hsa043900.75532714
76Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.75476073
77Chronic myeloid leukemia_Homo sapiens_hsa052200.74924023
78Thyroid cancer_Homo sapiens_hsa052160.74623009
79Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.73650711
80Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.73012160
81Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.72426259
82Dilated cardiomyopathy_Homo sapiens_hsa054140.71397312
83Linoleic acid metabolism_Homo sapiens_hsa005910.71209859
84Carbon metabolism_Homo sapiens_hsa012000.70935377
85Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.70728190
86Graft-versus-host disease_Homo sapiens_hsa053320.70383519
87Homologous recombination_Homo sapiens_hsa034400.70222876
88Leukocyte transendothelial migration_Homo sapiens_hsa046700.70096940
89Melanoma_Homo sapiens_hsa052180.69957625
90Complement and coagulation cascades_Homo sapiens_hsa046100.69953667
91Nicotine addiction_Homo sapiens_hsa050330.69100491
92Drug metabolism - other enzymes_Homo sapiens_hsa009830.68876752
93Folate biosynthesis_Homo sapiens_hsa007900.67462809
94Pentose and glucuronate interconversions_Homo sapiens_hsa000400.66113451
95Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.64945473
96Phototransduction_Homo sapiens_hsa047440.64228280
97Epstein-Barr virus infection_Homo sapiens_hsa051690.63093404
98PPAR signaling pathway_Homo sapiens_hsa033200.62540326
99Pertussis_Homo sapiens_hsa051330.62345414
100Autoimmune thyroid disease_Homo sapiens_hsa053200.59729061
101Pancreatic cancer_Homo sapiens_hsa052120.59298881
102Fanconi anemia pathway_Homo sapiens_hsa034600.57545085
103Arginine biosynthesis_Homo sapiens_hsa002200.57127687
104Rap1 signaling pathway_Homo sapiens_hsa040150.57123163
105Hedgehog signaling pathway_Homo sapiens_hsa043400.56865652
106Focal adhesion_Homo sapiens_hsa045100.55845988
107Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.55795196
108Salmonella infection_Homo sapiens_hsa051320.55149441
109Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.54530151
110Long-term depression_Homo sapiens_hsa047300.54374504
111Adherens junction_Homo sapiens_hsa045200.53699490
112Vascular smooth muscle contraction_Homo sapiens_hsa042700.53568565
113Arginine and proline metabolism_Homo sapiens_hsa003300.53079482
114Apoptosis_Homo sapiens_hsa042100.52583354
115Metabolic pathways_Homo sapiens_hsa011000.50807769
116Basal cell carcinoma_Homo sapiens_hsa052170.49081759
117Regulation of actin cytoskeleton_Homo sapiens_hsa048100.48900255
118RNA degradation_Homo sapiens_hsa030180.48655997
119Glycerolipid metabolism_Homo sapiens_hsa005610.48335871
120Ras signaling pathway_Homo sapiens_hsa040140.47558935
121p53 signaling pathway_Homo sapiens_hsa041150.47511817
122Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.47465645
123African trypanosomiasis_Homo sapiens_hsa051430.45444653
124alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.44852048
125Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.42694285
126Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.42226324
127Chemical carcinogenesis_Homo sapiens_hsa052040.41920080
128Notch signaling pathway_Homo sapiens_hsa043300.41765423
129Other glycan degradation_Homo sapiens_hsa005110.39476124
130Vitamin digestion and absorption_Homo sapiens_hsa049770.38665881
131Viral myocarditis_Homo sapiens_hsa054160.38625200
132Pyruvate metabolism_Homo sapiens_hsa006200.38406141
133Phospholipase D signaling pathway_Homo sapiens_hsa040720.37697605
134RNA transport_Homo sapiens_hsa030130.37483430
135Endometrial cancer_Homo sapiens_hsa052130.37210846
136PI3K-Akt signaling pathway_Homo sapiens_hsa041510.36386473
137Cell cycle_Homo sapiens_hsa041100.35998631
138Renal cell carcinoma_Homo sapiens_hsa052110.35406539
139MicroRNAs in cancer_Homo sapiens_hsa052060.35240820
140Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.33961620
141Melanogenesis_Homo sapiens_hsa049160.33938032
142Hepatitis C_Homo sapiens_hsa051600.32913512
143Tyrosine metabolism_Homo sapiens_hsa003500.32407837
144Pathways in cancer_Homo sapiens_hsa052000.30949533
145Wnt signaling pathway_Homo sapiens_hsa043100.29809887
146Histidine metabolism_Homo sapiens_hsa003400.29393205
147Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.29352947
148Regulation of autophagy_Homo sapiens_hsa041400.29154759
149Amoebiasis_Homo sapiens_hsa051460.27182814
150Non-homologous end-joining_Homo sapiens_hsa034500.27044578
151AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.26019967
152Small cell lung cancer_Homo sapiens_hsa052220.24465719
153Protein digestion and absorption_Homo sapiens_hsa049740.24214279
154Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.23548990

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