TBL2

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





Description: This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1piRNA metabolic process (GO:0034587)9.84365514
2fusion of sperm to egg plasma membrane (GO:0007342)9.04307137
3cilium or flagellum-dependent cell motility (GO:0001539)8.98959015
4cell wall macromolecule catabolic process (GO:0016998)8.96570403
5cell wall macromolecule metabolic process (GO:0044036)8.96570403
6motile cilium assembly (GO:0044458)8.76888611
7axonemal dynein complex assembly (GO:0070286)8.10262418
8microtubule depolymerization (GO:0007019)7.54967888
9multicellular organism reproduction (GO:0032504)6.83877304
10pre-miRNA processing (GO:0031054)6.74993277
11plasma membrane fusion (GO:0045026)6.68215558
12acrosome assembly (GO:0001675)6.62514317
13male meiosis (GO:0007140)6.61790882
14Golgi transport vesicle coating (GO:0048200)6.47396559
15COPI coating of Golgi vesicle (GO:0048205)6.47396559
16sperm-egg recognition (GO:0035036)6.40663568
17acrosome reaction (GO:0007340)6.31779537
18negative regulation of translation, ncRNA-mediated (GO:0040033)6.30309210
19regulation of translation, ncRNA-mediated (GO:0045974)6.30309210
20negative regulation of translation involved in gene silencing by miRNA (GO:0035278)6.30309210
21DNA methylation involved in gamete generation (GO:0043046)6.29689674
22reproduction (GO:0000003)5.68950180
23cell-cell recognition (GO:0009988)5.68647342
24synaptonemal complex assembly (GO:0007130)5.57800065
25spermatid development (GO:0007286)5.41036356
26binding of sperm to zona pellucida (GO:0007339)5.39466461
27synaptonemal complex organization (GO:0070193)5.35762399
28meiotic nuclear division (GO:0007126)5.32473659
29meiotic cell cycle (GO:0051321)5.30018278
30epithelial cilium movement (GO:0003351)5.25007341
31sperm motility (GO:0030317)5.24112068
32gene silencing by RNA (GO:0031047)5.21808195
33epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)5.21225345
34chromosome organization involved in meiosis (GO:0070192)4.91891806
35proline biosynthetic process (GO:0006561)4.79179905
36maintenance of protein localization in endoplasmic reticulum (GO:0035437)4.72945388
37protein retention in ER lumen (GO:0006621)4.53458554
38positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)4.46375840
39regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060211)4.46375840
40male genitalia development (GO:0030539)4.29542817
41regulation of meiosis I (GO:0060631)4.27807540
42cilium movement (GO:0003341)4.23869017
43male meiosis I (GO:0007141)4.14713155
44reproductive system development (GO:0061458)3.94180662
45retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)3.93351752
46regulation of translational fidelity (GO:0006450)3.92560785
47single fertilization (GO:0007338)3.91299509
48nuclear pore complex assembly (GO:0051292)3.90310855
49lipid particle organization (GO:0034389)3.89499694
50positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO3.86510484
51regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900151)3.86510484
52nuclear envelope reassembly (GO:0031468)3.81482197
53mitotic nuclear envelope reassembly (GO:0007084)3.81482197
54microtubule polymerization or depolymerization (GO:0031109)3.81142616
55protein maturation by protein folding (GO:0022417)3.68763519
56nuclear pore organization (GO:0006999)3.60966642
57meiosis I (GO:0007127)3.60497734
58gene silencing (GO:0016458)3.56247546
59sister chromatid cohesion (GO:0007062)3.54773304
60lipoprotein transport (GO:0042953)3.52563424
61regulation of mRNA 3-end processing (GO:0031440)3.47377096
62macroautophagy (GO:0016236)3.44645478
63COPII vesicle coating (GO:0048208)3.44372017
64germ cell development (GO:0007281)3.43551276
65negative regulation of translational initiation (GO:0045947)3.41484721
66S-adenosylmethionine metabolic process (GO:0046500)3.40653191
67fertilization (GO:0009566)3.40384818
68spermatogenesis (GO:0007283)3.38195978
69male gamete generation (GO:0048232)3.37152833
70positive regulation of mRNA 3-end processing (GO:0031442)3.35699860
71mRNA cleavage (GO:0006379)3.32828698
72amino-acid betaine metabolic process (GO:0006577)3.28679331
73proline metabolic process (GO:0006560)3.28667500
74cellular process involved in reproduction in multicellular organism (GO:0022412)3.27244827
75regulation of histone H3-K9 methylation (GO:0051570)3.26241882
76regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.21291760
77meiotic cell cycle process (GO:1903046)3.13373182
78gamete generation (GO:0007276)3.12457735
79peptidyl-proline hydroxylation (GO:0019511)3.10375531
80regulation of centriole replication (GO:0046599)3.09163805
81protein hydroxylation (GO:0018126)3.08538145
82DNA unwinding involved in DNA replication (GO:0006268)3.07699113
83synapsis (GO:0007129)3.07678740
84calcium ion-dependent exocytosis (GO:0017156)3.05819096
85DNA alkylation (GO:0006305)3.03512592
86DNA methylation (GO:0006306)3.03512592
87regulation of chromatin binding (GO:0035561)3.00796449
88positive regulation of Rho protein signal transduction (GO:0035025)2.98342137
89regulation of cilium movement (GO:0003352)2.97086650
90DNA strand elongation (GO:0022616)2.96347644
91DNA strand elongation involved in DNA replication (GO:0006271)2.95781233
92carnitine transmembrane transport (GO:1902603)2.95272118
93nucleobase-containing small molecule interconversion (GO:0015949)2.94351926
94regulation of mRNA catabolic process (GO:0061013)2.94098619
95UV protection (GO:0009650)2.93701300
96spermatid nucleus differentiation (GO:0007289)2.93401426
97protein N-linked glycosylation via asparagine (GO:0018279)2.92690491
98GDP-mannose metabolic process (GO:0019673)2.90836159
99peptidyl-asparagine modification (GO:0018196)2.90681495
100ribosome biogenesis (GO:0042254)2.90400808
101L-methionine salvage (GO:0071267)2.89305678
102L-methionine biosynthetic process (GO:0071265)2.89305678
103amino acid salvage (GO:0043102)2.89305678
104telomere maintenance via semi-conservative replication (GO:0032201)2.88973907
105nucleotide-sugar biosynthetic process (GO:0009226)2.88756719
106chaperone-mediated protein complex assembly (GO:0051131)2.88073373
1074-hydroxyproline metabolic process (GO:0019471)2.87322481
108amino-acid betaine transport (GO:0015838)2.83679702
109carnitine transport (GO:0015879)2.83679702
110positive regulation of mRNA catabolic process (GO:0061014)2.83624297
111activation of signaling protein activity involved in unfolded protein response (GO:0006987)2.79882038
112protein N-linked glycosylation (GO:0006487)2.79663726
113ribosome assembly (GO:0042255)2.79532777
114translesion synthesis (GO:0019985)2.77624352
115ventricular system development (GO:0021591)2.75744239
116negative regulation of DNA repair (GO:0045738)2.75583871
117hyaluronan catabolic process (GO:0030214)2.73735395
118mitotic sister chromatid segregation (GO:0000070)2.73330619
119positive regulation of nuclease activity (GO:0032075)2.72944901
120pore complex assembly (GO:0046931)2.72891595
121vesicle coating (GO:0006901)2.72688569
122tRNA methylation (GO:0030488)2.72359465
123mitotic chromosome condensation (GO:0007076)2.72218816
124protein prenylation (GO:0018342)2.71460272
125prenylation (GO:0097354)2.71460272
126cilium morphogenesis (GO:0060271)2.71329566
127negative regulation of cytokine biosynthetic process (GO:0042036)2.70759482
128glutamine family amino acid biosynthetic process (GO:0009084)2.69652928
129response to X-ray (GO:0010165)2.69575100
130sperm capacitation (GO:0048240)2.68847616
131peptidyl-arginine omega-N-methylation (GO:0035247)2.68369040
132nucleus organization (GO:0006997)2.68047671
133endoplasmic reticulum unfolded protein response (GO:0030968)2.67454108
134spindle assembly involved in mitosis (GO:0090307)2.66553088
135sister chromatid segregation (GO:0000819)2.66341315
136mitotic nuclear envelope disassembly (GO:0007077)2.65730307
137centriole assembly (GO:0098534)2.64660670
138protein K11-linked deubiquitination (GO:0035871)2.63523469
139zinc ion transmembrane transport (GO:0071577)2.63018422
140dolichol-linked oligosaccharide biosynthetic process (GO:0006488)2.62849793
141tRNA aminoacylation for protein translation (GO:0006418)2.62594419
142lipopolysaccharide biosynthetic process (GO:0009103)2.62183234
143tRNA aminoacylation (GO:0043039)2.60306554
144amino acid activation (GO:0043038)2.60306554
145regulation of mammary gland epithelial cell proliferation (GO:0033599)2.59736003
146basement membrane organization (GO:0071711)2.59284308
147UDP-N-acetylglucosamine metabolic process (GO:0006047)2.59028755
148chromosome condensation (GO:0030261)2.58279936
149ER overload response (GO:0006983)2.57507400
150chaperone-mediated protein folding (GO:0061077)2.56748047
151cellular response to unfolded protein (GO:0034620)2.52409207
152regulation of mitochondrial translation (GO:0070129)2.52250181
153ribonucleoprotein complex biogenesis (GO:0022613)2.48231392
154DNA replication initiation (GO:0006270)2.47843727
155ER-nucleus signaling pathway (GO:0006984)2.47244425
156cellular copper ion homeostasis (GO:0006878)2.46447841
157mitotic metaphase plate congression (GO:0007080)2.46038436
158membrane disassembly (GO:0030397)2.43785673
159nuclear envelope disassembly (GO:0051081)2.43785673
160skin morphogenesis (GO:0043589)2.43427574
161regulation of mitotic spindle organization (GO:0060236)2.43275992
162spliceosomal tri-snRNP complex assembly (GO:0000244)2.43249066
163hemidesmosome assembly (GO:0031581)2.42713794
164regulation of nuclease activity (GO:0032069)2.41750027
165cell adhesion mediated by integrin (GO:0033627)2.41478755
166biotin metabolic process (GO:0006768)2.40637553
167folic acid metabolic process (GO:0046655)2.40002123
168cellular response to topologically incorrect protein (GO:0035967)2.39478581
169pentose-phosphate shunt (GO:0006098)2.38412620
170desmosome organization (GO:0002934)2.37863483
171mitochondrial DNA metabolic process (GO:0032042)2.37022609
172regulation of translational termination (GO:0006449)2.36494079
173negative regulation of release of cytochrome c from mitochondria (GO:0090201)2.36265337
174negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)2.35189833
175folic acid-containing compound biosynthetic process (GO:0009396)2.35167470
176rRNA transcription (GO:0009303)2.33493495
177telomere maintenance via recombination (GO:0000722)2.32228099
178glucose 6-phosphate metabolic process (GO:0051156)2.31433897
179amyloid precursor protein catabolic process (GO:0042987)2.30292756
180G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.28808830
181DNA packaging (GO:0006323)2.28332637
182nuclear envelope organization (GO:0006998)2.27859147
183maturation of SSU-rRNA (GO:0030490)2.26544862
184formation of translation preinitiation complex (GO:0001731)2.24787246
185nucleotide-excision repair, DNA damage removal (GO:0000718)2.24458603
186DNA excision (GO:0044349)2.24458603
187pteridine-containing compound biosynthetic process (GO:0042559)2.24301795
188regulation of translational elongation (GO:0006448)2.23501073
189snRNA metabolic process (GO:0016073)2.23400501
190glycolipid catabolic process (GO:0019377)2.22998876
191endothelial cell morphogenesis (GO:0001886)2.22354715
192regulation of apoptotic process involved in morphogenesis (GO:1902337)2.22219515
193glucose catabolic process (GO:0006007)2.20022227
194rRNA modification (GO:0000154)2.19474448
195glycosphingolipid catabolic process (GO:0046479)2.17905846
196ribosomal large subunit biogenesis (GO:0042273)2.17064007
197peptidyl-histidine modification (GO:0018202)2.16944498

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse9.14372661
2BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse8.72301806
3FOXM1_23109430_ChIP-Seq_U2OS_Human4.20002567
4* MYC_18555785_ChIP-Seq_MESCs_Mouse3.26027963
5FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.22452991
6E2F7_22180533_ChIP-Seq_HELA_Human3.15236470
7EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.12507151
8HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.93657249
9ZNF263_19887448_ChIP-Seq_K562_Human2.72879409
10TP63_17297297_ChIP-ChIP_HaCaT_Human2.57254682
11* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse2.56927630
12STAT6_21828071_ChIP-Seq_BEAS2B_Human2.54165351
13NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.53177884
14ELK4_26923725_Chip-Seq_MESODERM_Mouse2.51052502
15MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.37807739
16KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.37454974
17XRN2_22483619_ChIP-Seq_HELA_Human2.22786868
18DCP1A_22483619_ChIP-Seq_HELA_Human2.20644600
19* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.19452021
20HIF1A_21447827_ChIP-Seq_MCF-7_Human2.19090540
21NOTCH1_21737748_ChIP-Seq_TLL_Human2.18619381
22E2F4_17652178_ChIP-ChIP_JURKAT_Human2.17290742
23ETS1_20019798_ChIP-Seq_JURKAT_Human2.13124532
24* NELFA_20434984_ChIP-Seq_ESCs_Mouse2.12410841
25CREB1_15753290_ChIP-ChIP_HEK293T_Human2.09654062
26TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.09601856
27ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.95583200
28GABP_17652178_ChIP-ChIP_JURKAT_Human1.88360184
29E2F1_18555785_ChIP-Seq_MESCs_Mouse1.87847161
30THAP11_20581084_ChIP-Seq_MESCs_Mouse1.84845334
31PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.83701177
32ZFX_18555785_ChIP-Seq_MESCs_Mouse1.82915840
33* CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.82021662
34KAP1_22055183_ChIP-Seq_ESCs_Mouse1.80645005
35FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.78747869
36RARG_19884340_ChIP-ChIP_MEFs_Mouse1.75655286
37HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.69832527
38* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.69511359
39TTF2_22483619_ChIP-Seq_HELA_Human1.62295542
40TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.61282019
41KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.55980263
42CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.55356567
43PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.54523610
44TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.52117216
45PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.50390399
46CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.49327736
47POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.48787851
48TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.48787851
49SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.48298602
50NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse1.47462759
51* ELK3_25401928_ChIP-Seq_HUVEC_Human1.46900347
52GATA3_21867929_ChIP-Seq_CD8_Mouse1.43873724
53NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.43565990
54DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.42519831
55TFEB_21752829_ChIP-Seq_HELA_Human1.42072499
56ESR1_15608294_ChIP-ChIP_MCF-7_Human1.41817662
57CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.41492455
58KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.41307148
59RACK7_27058665_Chip-Seq_MCF-7_Human1.40392597
60ELF1_17652178_ChIP-ChIP_JURKAT_Human1.39780190
61* CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.38929894
62PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.32731915
63ATF3_27146783_Chip-Seq_COLON_Human1.32268879
64SRF_21415370_ChIP-Seq_HL-1_Mouse1.32180923
65* PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.29965438
66ERG_20887958_ChIP-Seq_HPC-7_Mouse1.28227920
67SALL1_21062744_ChIP-ChIP_HESCs_Human1.27873958
68SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.26546334
69KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.26162704
70CRX_20693478_ChIP-Seq_RETINA_Mouse1.26107509
71NFE2_27457419_Chip-Seq_LIVER_Mouse1.25389581
72CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.25054693
73RUNX1_26923725_Chip-Seq_HPCs_Mouse1.23954421
74SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.23888409
75EGR1_19374776_ChIP-ChIP_THP-1_Human1.22502381
76TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.22359604
77KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.22257289
78EST1_17652178_ChIP-ChIP_JURKAT_Human1.20695768
79NANOG_18555785_ChIP-Seq_MESCs_Mouse1.20662358
80FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.20570292
81ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.20560622
82RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.20480943
83LUZP1_20508642_ChIP-Seq_ESCs_Mouse1.19942482
84VDR_21846776_ChIP-Seq_THP-1_Human1.19938364
85CLOCK_20551151_ChIP-Seq_293T_Human1.19730269
86MYC_22102868_ChIP-Seq_BL_Human1.19729174
87RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.19339866
88SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.19266940
89* LXR_22292898_ChIP-Seq_THP-1_Human1.19045799
90TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.18660039
91OCT4_21477851_ChIP-Seq_ESCs_Mouse1.17980536
92PCGF2_27294783_Chip-Seq_ESCs_Mouse1.17446755
93TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.16676290
94GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse1.16562135
95SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.15791580
96PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.14867633
97TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.14733430
98CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.13959031
99MYC_19079543_ChIP-ChIP_MESCs_Mouse1.12919598
100CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.12173746
101RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.12006192
102SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.11661291
103TBX5_21415370_ChIP-Seq_HL-1_Mouse1.11659562
104TET1_21451524_ChIP-Seq_MESCs_Mouse1.11597568
105ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.11468758
106SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.10824217
107SRY_22984422_ChIP-ChIP_TESTIS_Rat1.10663802
108HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.10087337
109RARA_24833708_ChIP-Seq_LIVER_Mouse1.09778953
110SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.08984081
111CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.08488868
112WDR5_24793694_ChIP-Seq_LNCAP_Human1.08270744
113SUZ12_27294783_Chip-Seq_NPCs_Mouse1.08030464
114HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.07855796
115FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.07826899
116TP53_22127205_ChIP-Seq_IMR90_Human1.06853864
117SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.06735511
118STAT3_1855785_ChIP-Seq_MESCs_Mouse1.06196489
119AR_21909140_ChIP-Seq_LNCAP_Human1.05868943
120GATA1_26923725_Chip-Seq_HPCs_Mouse1.04914146
121STAT1_17558387_ChIP-Seq_HELA_Human1.04771690
122PCGF2_27294783_Chip-Seq_NPCs_Mouse1.04353512
123FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.03544455
124* RXRA_24833708_ChIP-Seq_LIVER_Mouse1.03412675
125SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.02013047
126UBF1/2_26484160_Chip-Seq_HMECs_Human1.01694824
127ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.01270292
128BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.01031967
129* HOXB4_20404135_ChIP-ChIP_EML_Mouse0.99757488
130SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.96722169
131FLI1_21867929_ChIP-Seq_TH2_Mouse0.95897422
132EZH2_27294783_Chip-Seq_NPCs_Mouse0.95605131
133* GF1B_26923725_Chip-Seq_HPCs_Mouse0.93732558
134YY1_21170310_ChIP-Seq_MESCs_Mouse0.93395379
135POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.93087675
136TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.91987699
137EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.91424067
138TAL1_26923725_Chip-Seq_HPCs_Mouse0.90884528
139* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.90815262
140ESRRB_18555785_Chip-Seq_ESCs_Mouse0.89874914
141CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.89711909
142OCT4_18555785_Chip-Seq_ESCs_Mouse0.89545794
143KLF4_18555785_ChIP-Seq_MESCs_Mouse0.87183172
144YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.86973131
145RARB_24833708_ChIP-Seq_LIVER_Mouse0.85372169
146* MYC_18358816_ChIP-ChIP_MESCs_Mouse0.84997229
147DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.84976208
148E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.84941135
149TDRD3_21172665_ChIP-Seq_MCF-7_Human0.84815508
150PADI4_21655091_ChIP-ChIP_MCF-7_Human0.84387243
151NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.84109333
152ETS1_21867929_ChIP-Seq_TH2_Mouse0.83505519
153E2F1_21310950_ChIP-Seq_MCF-7_Human0.82727160
154KLF4_18555785_Chip-Seq_ESCs_Mouse0.82330510
155HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.82290469
156ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.81015243
157ETS1_22383799_ChIP-Seq_G1ME_Mouse0.79245206
158JARID1A_20064375_ChIP-Seq_MESCs_Mouse0.77576598
159TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.77446478
160IRF1_19129219_ChIP-ChIP_H3396_Human0.76898464
161STAT3_18555785_Chip-Seq_ESCs_Mouse0.75239597
162BCAT_22108803_ChIP-Seq_LS180_Human0.74292347
163ZNF274_21170338_ChIP-Seq_K562_Hela0.73814294
164GABP_19822575_ChIP-Seq_HepG2_Human0.73796067
165FOXP3_21729870_ChIP-Seq_TREG_Human0.73745766
166LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse0.73731971
167P300_18555785_Chip-Seq_ESCs_Mouse0.73074407
168NFYB_21822215_ChIP-Seq_K562_Human0.72987503
169SOX9_26525672_Chip-Seq_Limbbuds_Mouse0.72856265
170TBX3_20139965_ChIP-Seq_MESCs_Mouse0.72598320
171NFIB_24661679_ChIP-Seq_LUNG_Mouse0.72174134
172RUNX1_27457419_Chip-Seq_LIVER_Mouse0.72059316
173PKCTHETA_26484144_Chip-Seq_BREAST_Human0.72043473
174KDM5A_27292631_Chip-Seq_BREAST_Human0.71858496
175EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.71622052

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization6.56047192
2MP0005409_darkened_coat_color4.32768452
3MP0002653_abnormal_ependyma_morphology3.72272146
4MP0001929_abnormal_gametogenesis3.72210205
5MP0003698_abnormal_male_reproductive3.51643988
6MP0010094_abnormal_chromosome_stability3.37270501
7MP0008877_abnormal_DNA_methylation3.22878591
8MP0002210_abnormal_sex_determination2.83666008
9MP0001145_abnormal_male_reproductive2.74280517
10MP0003890_abnormal_embryonic-extraembry2.50249452
11MP0000653_abnormal_sex_gland2.37335337
12MP0008058_abnormal_DNA_repair2.37287991
13MP0005451_abnormal_body_composition2.29709041
14MP0005058_abnormal_lysosome_morphology2.29649129
15MP0003111_abnormal_nucleus_morphology2.28427318
16MP0010030_abnormal_orbit_morphology2.18498565
17MP0000015_abnormal_ear_pigmentation2.05108863
18MP0010234_abnormal_vibrissa_follicle2.04996360
19MP0005257_abnormal_intraocular_pressure2.04591440
20MP0003566_abnormal_cell_adhesion2.01400022
21MP0005174_abnormal_tail_pigmentation1.93286370
22MP0008932_abnormal_embryonic_tissue1.91500978
23MP0005670_abnormal_white_adipose1.87636752
24MP0002161_abnormal_fertility/fecundity1.86665307
25MP0003950_abnormal_plasma_membrane1.84982289
26MP0002060_abnormal_skin_morphology1.82507343
27MP0000428_abnormal_craniofacial_morphol1.79944671
28MP0010307_abnormal_tumor_latency1.79623180
29MP0002102_abnormal_ear_morphology1.77552701
30MP0006292_abnormal_olfactory_placode1.70246359
31MP0008007_abnormal_cellular_replicative1.62132958
32MP0000747_muscle_weakness1.61740395
33MP0004233_abnormal_muscle_weight1.57503150
34MP0009384_cardiac_valve_regurgitation1.53206577
35MP0009046_muscle_twitch1.52852070
36MP0009697_abnormal_copulation1.51467434
37MP0002877_abnormal_melanocyte_morpholog1.51215617
38MP0003806_abnormal_nucleotide_metabolis1.50036288
39MP0001849_ear_inflammation1.49959025
40MP0001293_anophthalmia1.49058439
41MP0008438_abnormal_cutaneous_collagen1.48650734
42MP0005275_abnormal_skin_tensile1.48246920
43MP0001661_extended_life_span1.47249294
44MP0005083_abnormal_biliary_tract1.46665138
45MP0000566_synostosis1.43563177
46MP0005501_abnormal_skin_physiology1.42522099
47MP0008057_abnormal_DNA_replication1.42326567
48MP0009703_decreased_birth_body1.41221434
49MP0006054_spinal_hemorrhage1.41076931
50MP0004130_abnormal_muscle_cell1.38311106
51MP0003283_abnormal_digestive_organ1.37953740
52MP0005023_abnormal_wound_healing1.36747037
53MP0000678_abnormal_parathyroid_gland1.34946030
54MP0000537_abnormal_urethra_morphology1.33404351
55MP0001243_abnormal_dermal_layer1.33370583
56MP0002269_muscular_atrophy1.32642133
57MP0009053_abnormal_anal_canal1.31128543
58MP0004858_abnormal_nervous_system1.29975680
59MP0005408_hypopigmentation1.29582139
60MP0003693_abnormal_embryo_hatching1.29334840
61MP0003191_abnormal_cellular_cholesterol1.29319318
62MP0009672_abnormal_birth_weight1.29304728
63MP0009780_abnormal_chondrocyte_physiolo1.26447015
64MP0004043_abnormal_pH_regulation1.26032469
65MP0005623_abnormal_meninges_morphology1.23987753
66MP0003077_abnormal_cell_cycle1.22422122
67MP0005380_embryogenesis_phenotype1.21487811
68MP0001672_abnormal_embryogenesis/_devel1.21487811
69MP0001697_abnormal_embryo_size1.19638118
70MP0000462_abnormal_digestive_system1.19418934
71MP0001216_abnormal_epidermal_layer1.14721000
72MP0003186_abnormal_redox_activity1.14555173
73MP0004197_abnormal_fetal_growth/weight/1.14372566
74MP0003279_aneurysm1.14361382
75MP0001299_abnormal_eye_distance/1.14291681
76MP0002971_abnormal_brown_adipose1.09827375
77MP0002084_abnormal_developmental_patter1.09564402
78MP0003984_embryonic_growth_retardation1.08721705
79MP0002089_abnormal_postnatal_growth/wei1.08337652
80MP0003941_abnormal_skin_development1.08231468
81MP0008875_abnormal_xenobiotic_pharmacok1.06969986
82MP0005171_absent_coat_pigmentation1.06762907
83MP0002896_abnormal_bone_mineralization1.06617131
84MP0008995_early_reproductive_senescence1.06279092
85MP0002088_abnormal_embryonic_growth/wei1.05589390
86MP0002085_abnormal_embryonic_tissue1.05367540
87MP0002160_abnormal_reproductive_system1.04227976
88MP0003705_abnormal_hypodermis_morpholog1.04160776
89MP0003959_abnormal_lean_body1.03981312
90MP0003385_abnormal_body_wall1.03665013
91MP0001730_embryonic_growth_arrest1.03307199
92MP0004808_abnormal_hematopoietic_stem1.02335623
93MP0003942_abnormal_urinary_system1.01614668
94MP0002111_abnormal_tail_morphology1.01603364
95MP0000013_abnormal_adipose_tissue1.00913498
96MP0001944_abnormal_pancreas_morphology0.97459295
97MP0000358_abnormal_cell_content/0.97253565
98MP0002796_impaired_skin_barrier0.96838056
99MP0005551_abnormal_eye_electrophysiolog0.96794708
100MP0003937_abnormal_limbs/digits/tail_de0.96314205
101MP0000762_abnormal_tongue_morphology0.95873103
102MP0003045_fibrosis0.95848163
103MP0003786_premature_aging0.94763295
104MP0008789_abnormal_olfactory_epithelium0.94296746
105MP0003315_abnormal_perineum_morphology0.93713399
106MP0003115_abnormal_respiratory_system0.93043622
107MP0005220_abnormal_exocrine_pancreas0.92521496
108MP0005076_abnormal_cell_differentiation0.92473167
109MP0001958_emphysema0.92180467
110MP0005508_abnormal_skeleton_morphology0.91635680
111MP0006072_abnormal_retinal_apoptosis0.91167407
112MP0003091_abnormal_cell_migration0.91117992
113MP0001881_abnormal_mammary_gland0.90804220
114MP0000631_abnormal_neuroendocrine_gland0.90568693
115MP0002098_abnormal_vibrissa_morphology0.90109255
116MP0003011_delayed_dark_adaptation0.89654087
117MP0002139_abnormal_hepatobiliary_system0.88330117
118MP0001727_abnormal_embryo_implantation0.88265958
119MP0003119_abnormal_digestive_system0.87613918
120MP0005365_abnormal_bile_salt0.87289209
121MP0000313_abnormal_cell_death0.87289109
122MP0010771_integument_phenotype0.86938117
123MP0000534_abnormal_ureter_morphology0.86835034
124MP0000647_abnormal_sebaceous_gland0.84885104
125MP0002697_abnormal_eye_size0.84249072
126MP0000627_abnormal_mammary_gland0.83912097
127MP0005197_abnormal_uvea_morphology0.83363636
128MP0003453_abnormal_keratinocyte_physiol0.83361887
129MP0001348_abnormal_lacrimal_gland0.83215045
130MP0005621_abnormal_cell_physiology0.82884760
131MP0003861_abnormal_nervous_system0.82642772
132MP0005503_abnormal_tendon_morphology0.80575486
133MP0003935_abnormal_craniofacial_develop0.80204849
134MP0000350_abnormal_cell_proliferation0.79467009
135MP0002086_abnormal_extraembryonic_tissu0.79464084
136MP0005165_increased_susceptibility_to0.79267353
137MP0008260_abnormal_autophagy0.79100821
138MP0001915_intracranial_hemorrhage0.77916350
139MP0005391_vision/eye_phenotype0.77303953
140MP0000490_abnormal_crypts_of0.76888704
141MP0000613_abnormal_salivary_gland0.76232732
142MP0004957_abnormal_blastocyst_morpholog0.75967865
143MP0005666_abnormal_adipose_tissue0.75409473
144MP0002234_abnormal_pharynx_morphology0.75328258
145MP0005384_cellular_phenotype0.75311511
146MP0005379_endocrine/exocrine_gland_phen0.74697757
147MP0003936_abnormal_reproductive_system0.74365035
148MP0002233_abnormal_nose_morphology0.74216472
149MP0002177_abnormal_outer_ear0.74169627
150MP0002080_prenatal_lethality0.74132986
151MP0004185_abnormal_adipocyte_glucose0.74070148
152MP0000467_abnormal_esophagus_morphology0.73923526
153MP0003632_abnormal_nervous_system0.72593445
154MP0002092_abnormal_eye_morphology0.72529255
155MP0008961_abnormal_basal_metabolism0.72307059
156MP0005253_abnormal_eye_physiology0.71521210
157MP0010329_abnormal_lipoprotein_level0.71443303
158MP0004264_abnormal_extraembryonic_tissu0.70644284
159MP0000003_abnormal_adipose_tissue0.69859798
160MP0009931_abnormal_skin_appearance0.69816079
161MP0009115_abnormal_fat_cell0.69669221
162MP0010352_gastrointestinal_tract_polyps0.69096192
163MP0003718_maternal_effect0.68390548
164MP0000432_abnormal_head_morphology0.67758183
165MP0009840_abnormal_foam_cell0.67441356
166MP0004272_abnormal_basement_membrane0.67139956

Predicted human phenotypes

RankGene SetZ-score
1Respiratory insufficiency due to defective ciliary clearance (HP:0200073)9.55056083
2Toxemia of pregnancy (HP:0100603)8.41410569
3Dynein arm defect of respiratory motile cilia (HP:0012255)8.41131415
4Absent/shortened dynein arms (HP:0200106)8.41131415
5Sensory axonal neuropathy (HP:0003390)7.98024069
6Abnormal respiratory epithelium morphology (HP:0012253)6.78811648
7Abnormal respiratory motile cilium morphology (HP:0005938)6.78811648
8Abnormal respiratory motile cilium physiology (HP:0012261)6.70770286
9Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)6.51515971
10Polygenic inheritance (HP:0010982)6.10794765
11Rhinitis (HP:0012384)6.02730674
12Premature rupture of membranes (HP:0001788)5.66324229
13Chronic bronchitis (HP:0004469)5.51668537
14Abnormal ciliary motility (HP:0012262)4.95446699
15Curly hair (HP:0002212)4.22052254
16Nasal polyposis (HP:0100582)4.13077097
17Hyporeflexia of lower limbs (HP:0002600)4.10958635
18Protrusio acetabuli (HP:0003179)3.82306660
19Vertebral compression fractures (HP:0002953)3.71392822
20Chronic otitis media (HP:0000389)3.71223994
21Entropion (HP:0000621)3.10116042
22Abnormality of the nasal mucosa (HP:0000433)3.06354189
23Short nail (HP:0001799)3.02463660
24Chronic sinusitis (HP:0011109)3.02013514
25Areflexia of lower limbs (HP:0002522)2.95693860
26Abnormality of dentin (HP:0010299)2.95310100
27Multifactorial inheritance (HP:0001426)2.94911708
28Bronchiectasis (HP:0002110)2.91932280
29Prenatal maternal abnormality (HP:0002686)2.85419640
30Nephronophthisis (HP:0000090)2.81741370
31Overlapping toe (HP:0001845)2.81342955
32Trismus (HP:0000211)2.78655792
33* Bladder diverticulum (HP:0000015)2.75294450
34Morphological abnormality of the pyramidal tract (HP:0002062)2.69877156
35Elbow flexion contracture (HP:0002987)2.69371747
36Abnormality of the distal phalanges of the toes (HP:0010182)2.67883094
37Atrophic scars (HP:0001075)2.67446860
38Infertility (HP:0000789)2.66184017
39Cervical subluxation (HP:0003308)2.65244527
40Abnormality of glycolipid metabolism (HP:0010969)2.58815558
41Abnormality of liposaccharide metabolism (HP:0010968)2.58815558
42Abnormality of glycosphingolipid metabolism (HP:0004343)2.58815558
43Truncal ataxia (HP:0002078)2.56224391
44Abnormality of glycolysis (HP:0004366)2.56221063
45Abnormality of the umbilical cord (HP:0010881)2.54790754
46Achilles tendon contracture (HP:0001771)2.52484299
47Fragile skin (HP:0001030)2.50519975
48Heterotopia (HP:0002282)2.49735321
49Impulsivity (HP:0100710)2.48019152
50Bronchitis (HP:0012387)2.47058546
51Tubular atrophy (HP:0000092)2.46774328
52Nonimmune hydrops fetalis (HP:0001790)2.42381967
53Hand muscle atrophy (HP:0009130)2.41100543
54J-shaped sella turcica (HP:0002680)2.40389350
55Type I transferrin isoform profile (HP:0003642)2.36755838
56Upper limb amyotrophy (HP:0009129)2.35932395
57Distal upper limb amyotrophy (HP:0007149)2.35932395
58Chromosomal breakage induced by crosslinking agents (HP:0003221)2.29794887
59* Renovascular hypertension (HP:0100817)2.29595181
60Aplasia/Hypoplasia of the sacrum (HP:0008517)2.26766041
61Abnormal protein glycosylation (HP:0012346)2.24785689
62Abnormal glycosylation (HP:0012345)2.24785689
63Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.24785689
64Abnormal protein N-linked glycosylation (HP:0012347)2.24785689
65Soft skin (HP:0000977)2.24768614
66Recurrent otitis media (HP:0000403)2.24037877
67Facial hemangioma (HP:0000329)2.24006156
68Rough bone trabeculation (HP:0100670)2.22778279
69Progressive muscle weakness (HP:0003323)2.21488273
70Abnormality of the acetabulum (HP:0003170)2.18367774
71Natal tooth (HP:0000695)2.17392055
72Abnormality of the Achilles tendon (HP:0005109)2.16987552
73Increased serum pyruvate (HP:0003542)2.14614066
74Cutaneous melanoma (HP:0012056)2.13648633
75Blue sclerae (HP:0000592)2.12174708
76Microretrognathia (HP:0000308)2.11049547
77Hypoplasia of the capital femoral epiphysis (HP:0003090)2.10887675
78Abnormal gallbladder physiology (HP:0012438)2.09755125
79Cholecystitis (HP:0001082)2.09755125
80Medial flaring of the eyebrow (HP:0010747)2.07539340
81Ankle contracture (HP:0006466)2.07189348
82Type II lissencephaly (HP:0007260)2.06349117
83Chromsome breakage (HP:0040012)2.05844363
84Abnormalities of placenta or umbilical cord (HP:0001194)2.04944737
85Microglossia (HP:0000171)2.04935793
86Biconcave vertebral bodies (HP:0004586)2.04786720
87Spastic paraparesis (HP:0002313)2.04710383
88Upper limb muscle weakness (HP:0003484)2.04127860
89Ulnar bowing (HP:0003031)2.03996953
90Abnormal delivery (HP:0001787)2.03273534
91* Increased nuchal translucency (HP:0010880)2.02267963
92Poikiloderma (HP:0001029)2.01719492
93Cardiovascular calcification (HP:0011915)2.00843698
94Deep philtrum (HP:0002002)1.98008166
95Squamous cell carcinoma (HP:0002860)1.97712114
96Spastic paraplegia (HP:0001258)1.96136856
97* Insomnia (HP:0100785)1.95911394
98Asymmetry of the thorax (HP:0001555)1.95563895
99Ankyloglossia (HP:0010296)1.95399202
100Orthostatic hypotension (HP:0001278)1.95316333
101Redundant skin (HP:0001582)1.93941376
102Abnormality of the renal medulla (HP:0100957)1.93559665
103Congenital primary aphakia (HP:0007707)1.93337002
104Testicular atrophy (HP:0000029)1.92717470
105Gait imbalance (HP:0002141)1.92670321
106Abnormal hair laboratory examination (HP:0003328)1.92612858
107Aortic dissection (HP:0002647)1.90336847
108Abnormal umbilical cord blood vessels (HP:0011403)1.88800726
109Single umbilical artery (HP:0001195)1.88800726
110Abnormality of the fetal cardiovascular system (HP:0010948)1.88800726
111Pancreatic cysts (HP:0001737)1.88693026
112Hyperinsulinemic hypoglycemia (HP:0000825)1.88280609
113Generalized amyotrophy (HP:0003700)1.87940789
114Decreased number of peripheral myelinated nerve fibers (HP:0003380)1.86726690
115Microvesicular hepatic steatosis (HP:0001414)1.86646073
116Wormian bones (HP:0002645)1.86257987
117Spinal rigidity (HP:0003306)1.85350058
118Broad alveolar ridges (HP:0000187)1.83860553
119Abnormal trabecular bone morphology (HP:0100671)1.83167497
120Follicular hyperkeratosis (HP:0007502)1.82639319
121Azoospermia (HP:0000027)1.81243604
122Vascular calcification (HP:0004934)1.81162481
123Back pain (HP:0003418)1.80848572
124Absent eyebrow (HP:0002223)1.80353683
125Breast hypoplasia (HP:0003187)1.80301150
126Duplicated collecting system (HP:0000081)1.79751790
127Hyperammonemia (HP:0001987)1.79703153
128Fatigue (HP:0012378)1.78720015
129Mitral stenosis (HP:0001718)1.78068868
130Abnormal spermatogenesis (HP:0008669)1.77727665
131Slender long bone (HP:0003100)1.77401598
132Abnormality of carpal bone ossification (HP:0006257)1.77250765
133Reduced antithrombin III activity (HP:0001976)1.76914902
134Steppage gait (HP:0003376)1.76661637
135Long toe (HP:0010511)1.75715055
136Deviation of the thumb (HP:0009603)1.73339351
137Cerebellar dysplasia (HP:0007033)1.72718469
138Paraplegia (HP:0010550)1.72048404
139Thin bony cortex (HP:0002753)1.69913799
140Ragged-red muscle fibers (HP:0003200)1.67941067
141Ureteral duplication (HP:0000073)1.66680318
142Breech presentation (HP:0001623)1.66598915
143Flattened epiphyses (HP:0003071)1.66254593
144Absent epiphyses (HP:0010577)1.65644350
145Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.65644350
146Osteolytic defects of the phalanges of the hand (HP:0009771)1.65056885
147Osteolytic defects of the hand bones (HP:0009699)1.65056885
148* Abnormality of the carotid arteries (HP:0005344)1.65048609
149Recurrent sinusitis (HP:0011108)1.63958505
150Proximal placement of thumb (HP:0009623)1.61753061
151Unilateral renal agenesis (HP:0000122)1.60919611
152Premature skin wrinkling (HP:0100678)1.60610138
153Mildly elevated creatine phosphokinase (HP:0008180)1.60588725
154Bifid tongue (HP:0010297)1.59433925
155Abnormality of oral frenula (HP:0000190)1.58146917
156Nephrogenic diabetes insipidus (HP:0009806)1.56552125
157Anosmia (HP:0000458)1.56278461
158Retinal dysplasia (HP:0007973)1.52908648
159Tongue fasciculations (HP:0001308)1.51313829
160Aplasia/Hypoplasia of the uvula (HP:0010293)1.50345244
161Impaired smooth pursuit (HP:0007772)1.49793457
162* Flat cornea (HP:0007720)1.48181993
163Meckel diverticulum (HP:0002245)1.47006461
164* Overriding aorta (HP:0002623)1.45625354
165Sloping forehead (HP:0000340)1.44442926
166Vaginal atresia (HP:0000148)1.44424761
167Stage 5 chronic kidney disease (HP:0003774)1.43654450
168* Elfin facies (HP:0004428)1.43399216
169* Hyperacusis (HP:0010780)1.43083484
170Facial cleft (HP:0002006)1.43068180
171Abnormality of ocular smooth pursuit (HP:0000617)1.41501955
172Astigmatism (HP:0000483)1.40197491
173Abnormality of the renal collecting system (HP:0004742)1.40174696
174Poor coordination (HP:0002370)1.39052977
175Genital tract atresia (HP:0001827)1.38975671
176Abnormality of the renal cortex (HP:0011035)1.38415924
177Muscle fibrillation (HP:0010546)1.38407007
178Duplication of thumb phalanx (HP:0009942)1.35937686
179Breast aplasia (HP:0100783)1.35833054
180Postaxial foot polydactyly (HP:0001830)1.35030987
181* Renal duplication (HP:0000075)1.34716641
182Dental crowding (HP:0000678)1.34408477
183Short phalanx of the thumb (HP:0009660)1.33733038
184Retinal atrophy (HP:0001105)1.33707631
185Short thumb (HP:0009778)1.33428491
186Abnormality of the phalanges of the hallux (HP:0010057)1.33272533
187Abnormality of the preputium (HP:0100587)1.32978163
188Abnormality of chromosome stability (HP:0003220)1.32411337
189Short 1st metacarpal (HP:0010034)1.31651256
190Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)1.31651256
191Papillary thyroid carcinoma (HP:0002895)1.30917727

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK46.36327569
2PDK36.36327569
3PDK23.96142743
4NME23.88941888
5MST1R2.95276374
6YES12.91716794
7IRAK32.88019282
8MAP3K92.83899646
9AKT32.56847249
10SMG12.45907968
11CDK122.43974823
12NEK22.41241755
13SCYL22.38036708
14NEK12.10758059
15MAPKAPK32.10690159
16CDC72.04469519
17EIF2AK12.02863188
18ICK1.95544315
19VRK21.89424087
20PRKD31.88576540
21PDGFRB1.84665007
22PIM21.81544296
23PAK41.80837627
24PBK1.73356809
25BRSK21.71158464
26GRK11.66136999
27PASK1.65832243
28WEE11.59129577
29MUSK1.57874452
30TLK11.53577976
31CHEK21.49110043
32BRD41.47837392
33ZAK1.40112767
34STK31.39711169
35CDK71.35536012
36TTK1.33867092
37NEK91.32461339
38LATS11.28728223
39PTK21.28205836
40MTOR1.27216176
41PLK41.26343724
42TSSK61.19824236
43CDK81.19510931
44MAPK151.18925856
45LIMK11.15728580
46CHEK11.13439688
47PLK11.13203408
48ERBB41.12371768
49BMPR1B1.10909858
50FLT31.01696647
51ATR1.00858993
52SRPK10.99710009
53INSRR0.97485739
54TYK20.97039477
55RPS6KB20.96945430
56DDR20.96519032
57EIF2AK30.95305564
58BUB10.93719365
59ABL20.91972823
60ILK0.91698004
61MAPK110.90906458
62ARAF0.90695195
63SIK10.89862462
64RIPK10.86426309
65BRSK10.83205530
66CDK40.81819186
67STK160.81733933
68AURKB0.81558181
69NEK60.80265468
70LMTK20.79601507
71TAOK20.76797902
72STK390.76447016
73MET0.74294199
74MAP3K100.72053976
75LATS20.71069606
76CAMK1D0.70822534
77IRAK10.70723544
78LRRK20.69511906
79STK100.68580386
80ATM0.68098383
81CCNB10.67748642
82PKN20.67638109
83CSNK1G30.64091421
84MAP3K130.63270390
85WNK40.61365768
86STK40.60954716
87PNCK0.60292661
88RAF10.59173774
89TESK10.58444783
90VRK10.57195808
91DYRK30.56169680
92CAMK1G0.56155225
93TRIB30.56090158
94PDGFRA0.55986004
95EPHB20.55371291
96CSNK1A1L0.55136914
97NTRK10.54923851
98EPHA30.54770880
99CDK10.54374540
100HCK0.54012485
101MAP3K20.51832744
102CDK20.51525069
103MOS0.50171772
104MAP3K110.49841885
105ZAP700.48380518
106MAPK100.48305835
107ERN10.47640525
108AKT20.46981605
109TTN0.46761453
110MAPK70.45226862
111TESK20.44400001
112CLK10.44185304
113NME10.43411016
114WNK10.42806865
115ALK0.41898965
116STK380.41095236
117BRAF0.41008067
118PRKG20.39538490
119DAPK10.38936377
120BMX0.38819855
121MAPKAPK20.38795425
122MELK0.38734955
123PRKD20.37507237
124CDK90.37302195
125EGFR0.36848524
126PRKG10.36101842
127CSNK1D0.35910445
128PRKAA10.35495330
129MAP3K30.34426154
130MARK20.33691055
131AURKA0.33037796
132DAPK30.32925419
133INSR0.32817360
134PAK20.31544230
135PRKCI0.31389821
136PAK10.30410692
137RPS6KA40.30196004
138MAP2K20.30047554
139CDK60.29882992
140PLK30.29544494
141EPHA20.28359074
142PRKDC0.27569046
143GSK3B0.27011023
144PTK60.26794749
145MKNK20.26724023
146HIPK20.26430037
147DYRK1B0.25395013
148PDK10.25102361
149EEF2K0.24878815
150MAP3K80.24865045
151BCKDK0.24160967

Predicted pathways (KEGG)

RankGene SetZ-score
1Pentose phosphate pathway_Homo sapiens_hsa000304.50402604
2Homologous recombination_Homo sapiens_hsa034403.76181397
3Selenocompound metabolism_Homo sapiens_hsa004503.18599077
4Vitamin B6 metabolism_Homo sapiens_hsa007502.98664839
5Fanconi anemia pathway_Homo sapiens_hsa034602.92626266
6Maturity onset diabetes of the young_Homo sapiens_hsa049502.71545952
7Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.53669442
8Other glycan degradation_Homo sapiens_hsa005112.24365863
9Sulfur relay system_Homo sapiens_hsa041222.14593966
10Systemic lupus erythematosus_Homo sapiens_hsa053222.12411261
11Biosynthesis of amino acids_Homo sapiens_hsa012302.11092408
12Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.07905881
13One carbon pool by folate_Homo sapiens_hsa006702.01184697
14Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.99907932
15Basal transcription factors_Homo sapiens_hsa030221.97916524
16RNA transport_Homo sapiens_hsa030131.92844720
17Proteasome_Homo sapiens_hsa030501.84342414
18Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.83406685
19Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.78611338
20Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.76584794
21N-Glycan biosynthesis_Homo sapiens_hsa005101.74716612
222-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.72859691
23Dorso-ventral axis formation_Homo sapiens_hsa043201.71308118
24Lysine degradation_Homo sapiens_hsa003101.71144989
25Steroid biosynthesis_Homo sapiens_hsa001001.70898945
26Glycerolipid metabolism_Homo sapiens_hsa005611.68586398
27Galactose metabolism_Homo sapiens_hsa000521.68113472
28Glycosaminoglycan degradation_Homo sapiens_hsa005311.65361178
29Cysteine and methionine metabolism_Homo sapiens_hsa002701.65120808
30alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.53126761
31Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.50451146
32RNA polymerase_Homo sapiens_hsa030201.48635935
33Fatty acid elongation_Homo sapiens_hsa000621.45314947
34Carbon metabolism_Homo sapiens_hsa012001.42218024
35Mismatch repair_Homo sapiens_hsa034301.38950804
36Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.35153394
37Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.33993568
38Linoleic acid metabolism_Homo sapiens_hsa005911.32494677
39Fat digestion and absorption_Homo sapiens_hsa049751.27834309
40Glutathione metabolism_Homo sapiens_hsa004801.26774794
41Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.22989493
42Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.21816821
43Pyruvate metabolism_Homo sapiens_hsa006201.21648956
44mRNA surveillance pathway_Homo sapiens_hsa030151.20165961
45Glucagon signaling pathway_Homo sapiens_hsa049221.19203331
46Bladder cancer_Homo sapiens_hsa052191.16649626
47Lysosome_Homo sapiens_hsa041421.15603916
48Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.15554584
49Cell cycle_Homo sapiens_hsa041101.13920797
50Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.03449622
51Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.02033315
52Propanoate metabolism_Homo sapiens_hsa006400.99723067
53Fatty acid biosynthesis_Homo sapiens_hsa000610.99690767
54Basal cell carcinoma_Homo sapiens_hsa052170.98890128
55ABC transporters_Homo sapiens_hsa020100.97870159
56Glycerophospholipid metabolism_Homo sapiens_hsa005640.97387597
57Carbohydrate digestion and absorption_Homo sapiens_hsa049730.96966255
58Oocyte meiosis_Homo sapiens_hsa041140.96454495
59Ribosome_Homo sapiens_hsa030100.94544400
60Vibrio cholerae infection_Homo sapiens_hsa051100.91993529
61Phosphatidylinositol signaling system_Homo sapiens_hsa040700.91939533
62Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.91888053
63Arginine biosynthesis_Homo sapiens_hsa002200.91556692
64Alcoholism_Homo sapiens_hsa050340.89547572
65Sphingolipid metabolism_Homo sapiens_hsa006000.89027829
66Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.88947736
67ECM-receptor interaction_Homo sapiens_hsa045120.88615156
68Folate biosynthesis_Homo sapiens_hsa007900.88122868
69Small cell lung cancer_Homo sapiens_hsa052220.87991614
70Nitrogen metabolism_Homo sapiens_hsa009100.87955047
71Fructose and mannose metabolism_Homo sapiens_hsa000510.83406333
72Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.82331013
73Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.81965456
74PPAR signaling pathway_Homo sapiens_hsa033200.81373265
75Chronic myeloid leukemia_Homo sapiens_hsa052200.80756950
76Sulfur metabolism_Homo sapiens_hsa009200.78648829
77Arginine and proline metabolism_Homo sapiens_hsa003300.77907758
78Fatty acid degradation_Homo sapiens_hsa000710.76482146
79Fatty acid metabolism_Homo sapiens_hsa012120.75327007
80p53 signaling pathway_Homo sapiens_hsa041150.74393691
81Inositol phosphate metabolism_Homo sapiens_hsa005620.73043939
82Protein digestion and absorption_Homo sapiens_hsa049740.71786151
83AMPK signaling pathway_Homo sapiens_hsa041520.70600430
84Peroxisome_Homo sapiens_hsa041460.70567638
85Hedgehog signaling pathway_Homo sapiens_hsa043400.68569032
86Phenylalanine metabolism_Homo sapiens_hsa003600.68317432
87Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.67285086
88ErbB signaling pathway_Homo sapiens_hsa040120.63824438
89Ether lipid metabolism_Homo sapiens_hsa005650.61252764
90Viral carcinogenesis_Homo sapiens_hsa052030.61186093
91Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.59609225
92Vitamin digestion and absorption_Homo sapiens_hsa049770.59199374
93Cyanoamino acid metabolism_Homo sapiens_hsa004600.59041750
94Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.56611480
95Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.56575851
96Thyroid cancer_Homo sapiens_hsa052160.56457860
97DNA replication_Homo sapiens_hsa030300.56188039
98Gastric acid secretion_Homo sapiens_hsa049710.55830900
99Pentose and glucuronate interconversions_Homo sapiens_hsa000400.55609722
100Insulin secretion_Homo sapiens_hsa049110.54150484
101Purine metabolism_Homo sapiens_hsa002300.53922368
102Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.52989234
103Tryptophan metabolism_Homo sapiens_hsa003800.51814603
104Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.51761644
105Insulin signaling pathway_Homo sapiens_hsa049100.51233259
106Central carbon metabolism in cancer_Homo sapiens_hsa052300.49228056
107Primary bile acid biosynthesis_Homo sapiens_hsa001200.48375973
108Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.46868583
109RNA degradation_Homo sapiens_hsa030180.45983462
110Hippo signaling pathway_Homo sapiens_hsa043900.45817282
111Metabolic pathways_Homo sapiens_hsa011000.45545307
112Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.45361723
113TGF-beta signaling pathway_Homo sapiens_hsa043500.45175211
114Tyrosine metabolism_Homo sapiens_hsa003500.44825969
115Nucleotide excision repair_Homo sapiens_hsa034200.44052436
116Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.40687282
117Pyrimidine metabolism_Homo sapiens_hsa002400.40159548
118Base excision repair_Homo sapiens_hsa034100.39772026
119Starch and sucrose metabolism_Homo sapiens_hsa005000.39046581
120Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.37871033
121Renin-angiotensin system_Homo sapiens_hsa046140.37753903
122Protein export_Homo sapiens_hsa030600.37403351
123Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.37076268
124Retinol metabolism_Homo sapiens_hsa008300.36282988
125mTOR signaling pathway_Homo sapiens_hsa041500.36255635
126Apoptosis_Homo sapiens_hsa042100.36218467
127Proteoglycans in cancer_Homo sapiens_hsa052050.34213266
128Focal adhesion_Homo sapiens_hsa045100.33671573
129Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.33541020
130Non-homologous end-joining_Homo sapiens_hsa034500.31649385
131Thyroid hormone synthesis_Homo sapiens_hsa049180.31066690
132Spliceosome_Homo sapiens_hsa030400.29941207
133Type II diabetes mellitus_Homo sapiens_hsa049300.29521278
134Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.28599076
135Drug metabolism - other enzymes_Homo sapiens_hsa009830.26053862
136Longevity regulating pathway - mammal_Homo sapiens_hsa042110.25767318
137Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.25495492
138Insulin resistance_Homo sapiens_hsa049310.25400535

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