CDK2AP1

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: The protein encoded by this gene is a cyclin-dependent kinase 2 (CDK2) -associated protein which is thought to negatively regulate CDK2 activity by sequestering monomeric CDK2, and targeting CDK2 for proteolysis. This protein was found to also interact with DNA polymerase alpha/primase and mediate the phosphorylation of the large p180 subunit, which suggests a regulatory role in DNA replication during the S-phase of the cell cycle. This protein also forms a core subunit of the nucleosome remodeling and histone deacetylation (NURD) complex that epigenetically regulates embryonic stem cell differentiation. This gene thus plays a role in both cell-cycle and epigenetic regulation. 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
1mitotic metaphase plate congression (GO:0007080)5.53385225
2regulation of attachment of spindle microtubules to kinetochore (GO:0051988)5.13990847
3purine nucleobase biosynthetic process (GO:0009113)5.10982465
4nucleobase biosynthetic process (GO:0046112)4.96836662
5protein localization to kinetochore (GO:0034501)4.95196437
6regulation of spindle organization (GO:0090224)4.79347813
7ribosome assembly (GO:0042255)4.78293231
8DNA replication checkpoint (GO:0000076)4.41071729
9metaphase plate congression (GO:0051310)4.37934480
10positive regulation of chromosome segregation (GO:0051984)4.30332008
11protein localization to chromosome, centromeric region (GO:0071459)4.28945585
12regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)4.21348492
13ribosome biogenesis (GO:0042254)4.17278491
14mitotic nuclear envelope disassembly (GO:0007077)4.04112604
15formation of translation preinitiation complex (GO:0001731)4.03154550
16paraxial mesoderm development (GO:0048339)3.99451287
17regulation of mitotic spindle organization (GO:0060236)3.96605143
18planar cell polarity pathway involved in neural tube closure (GO:0090179)3.86127755
19maturation of SSU-rRNA (GO:0030490)3.83309310
20DNA replication initiation (GO:0006270)3.82914368
21membrane disassembly (GO:0030397)3.77805387
22nuclear envelope disassembly (GO:0051081)3.77805387
23regulation of chromosome segregation (GO:0051983)3.64493695
24DNA unwinding involved in DNA replication (GO:0006268)3.61269550
25spindle checkpoint (GO:0031577)3.60986674
26ribonucleoprotein complex biogenesis (GO:0022613)3.59419037
27mitotic sister chromatid segregation (GO:0000070)3.59299042
28spliceosomal snRNP assembly (GO:0000387)3.59165212
29regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.56286739
30nuclear pore organization (GO:0006999)3.55386301
31folic acid metabolic process (GO:0046655)3.52400492
32establishment of chromosome localization (GO:0051303)3.51445640
33DNA strand elongation involved in DNA replication (GO:0006271)3.51397015
34mitotic spindle checkpoint (GO:0071174)3.48403480
35negative regulation of chromosome segregation (GO:0051985)3.38326776
36transcription elongation from RNA polymerase III promoter (GO:0006385)3.38212421
37termination of RNA polymerase III transcription (GO:0006386)3.38212421
38mitotic spindle assembly checkpoint (GO:0007094)3.36497550
39lung-associated mesenchyme development (GO:0060484)3.35112765
40outer ear morphogenesis (GO:0042473)3.34935119
41sister chromatid segregation (GO:0000819)3.34383607
42DNA strand elongation (GO:0022616)3.33401501
43negative regulation of mitotic sister chromatid separation (GO:2000816)3.32947493
44negative regulation of mitotic sister chromatid segregation (GO:0033048)3.32947493
45negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.32947493
46negative regulation of sister chromatid segregation (GO:0033046)3.32947493
47protein localization to chromosome (GO:0034502)3.32904955
48spindle assembly checkpoint (GO:0071173)3.32276299
49regulation of RNA export from nucleus (GO:0046831)3.32088152
50regulation of exit from mitosis (GO:0007096)3.29834826
51ribosomal large subunit biogenesis (GO:0042273)3.28567499
52rRNA processing (GO:0006364)3.28516072
53nuclear envelope organization (GO:0006998)3.28358122
54protein K6-linked ubiquitination (GO:0085020)3.28056480
55DNA replication-dependent nucleosome organization (GO:0034723)3.26684320
56DNA replication-dependent nucleosome assembly (GO:0006335)3.26684320
57IMP biosynthetic process (GO:0006188)3.26218527
58regulation of mitotic metaphase/anaphase transition (GO:0030071)3.25047874
59DNA replication-independent nucleosome assembly (GO:0006336)3.24325066
60DNA replication-independent nucleosome organization (GO:0034724)3.24325066
61CENP-A containing nucleosome assembly (GO:0034080)3.22545329
62attachment of spindle microtubules to kinetochore (GO:0008608)3.22216761
63negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.21510990
64histone-serine phosphorylation (GO:0035404)3.21496968
65rRNA metabolic process (GO:0016072)3.21231541
66negative regulation of mRNA splicing, via spliceosome (GO:0048025)3.18591394
67translational initiation (GO:0006413)3.18397654
68regulation of metaphase/anaphase transition of cell cycle (GO:1902099)3.16390113
69termination of RNA polymerase I transcription (GO:0006363)3.14309583
70chromatin remodeling at centromere (GO:0031055)3.13208012
71monoubiquitinated protein deubiquitination (GO:0035520)3.11442416
72nuclear pore complex assembly (GO:0051292)3.10711325
73mRNA splicing, via spliceosome (GO:0000398)3.10512293
74RNA splicing, via transesterification reactions with bulged adenosine as nucleophile (GO:0000377)3.10512293
75regulation of sister chromatid cohesion (GO:0007063)3.09385794
76RNA splicing, via transesterification reactions (GO:0000375)3.09380083
77Wnt signaling pathway, planar cell polarity pathway (GO:0060071)3.07508704
78dermatan sulfate biosynthetic process (GO:0030208)3.06864241
79histone exchange (GO:0043486)3.06734019
80transcription elongation from RNA polymerase I promoter (GO:0006362)3.05987244
81vitamin transmembrane transport (GO:0035461)3.04646119
82mitotic chromosome condensation (GO:0007076)3.03368590
83regulation of sister chromatid segregation (GO:0033045)3.02522211
84regulation of mitotic sister chromatid separation (GO:0010965)3.02522211
85regulation of mitotic sister chromatid segregation (GO:0033047)3.02522211
86anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.01439082
87convergent extension (GO:0060026)2.99601552
88histone H2A monoubiquitination (GO:0035518)2.99353157
89transcription from RNA polymerase I promoter (GO:0006360)2.98908195
90regulation of translational termination (GO:0006449)2.98268098
91rRNA modification (GO:0000154)2.97457397
92maturation of 5.8S rRNA (GO:0000460)2.97117236
93cochlea morphogenesis (GO:0090103)2.96680933
94mitotic G1 DNA damage checkpoint (GO:0031571)2.94538884
95spliceosomal complex assembly (GO:0000245)2.93658656
96regulation of establishment of planar polarity (GO:0090175)2.92762827
97kinetochore organization (GO:0051383)2.91982556
98ATP-dependent chromatin remodeling (GO:0043044)2.91980322
99negative regulation of RNA splicing (GO:0033119)2.91946007
100chondrocyte proliferation (GO:0035988)2.90934242
101telomere maintenance via semi-conservative replication (GO:0032201)2.88526060
102folic acid-containing compound biosynthetic process (GO:0009396)2.88187678
103kinetochore assembly (GO:0051382)2.87303535
104regulation of nuclear cell cycle DNA replication (GO:0033262)2.86730860
105regulation of centrosome cycle (GO:0046605)2.86440522
106notochord development (GO:0030903)2.86176850
107positive regulation of mitotic sister chromatid separation (GO:1901970)2.86176199
108positive regulation of mitotic metaphase/anaphase transition (GO:0045842)2.86176199
109positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)2.86176199
110protein heterotrimerization (GO:0070208)2.85951367
111blastocyst development (GO:0001824)2.84517762
112translational termination (GO:0006415)2.84466773
113dermatan sulfate metabolic process (GO:0030205)2.78063806
114negative regulation of chondrocyte differentiation (GO:0032331)2.75656460
115collagen fibril organization (GO:0030199)2.71995139
116hippo signaling (GO:0035329)2.70806443
117negative regulation of embryonic development (GO:0045992)2.68162808
118regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.64091301
119bone trabecula formation (GO:0060346)2.61468606
120non-canonical Wnt signaling pathway (GO:0035567)2.59044537
121cellular protein complex localization (GO:0034629)2.58873636
122regulation of early endosome to late endosome transport (GO:2000641)2.58664897
123apical protein localization (GO:0045176)2.58359822
124protein complex localization (GO:0031503)2.56737078
125G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.48403458
126endothelial cell morphogenesis (GO:0001886)2.47055270
127cell migration involved in sprouting angiogenesis (GO:0002042)2.46294472
128anterior/posterior axis specification, embryo (GO:0008595)2.44990960
129postsynaptic membrane organization (GO:0001941)2.42423788
130negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)2.42052223
131endodermal cell differentiation (GO:0035987)2.41372052
132protein maturation by protein folding (GO:0022417)2.39703073
133kidney mesenchyme development (GO:0072074)2.37874413
134axon extension involved in axon guidance (GO:0048846)2.37010283
135neuron projection extension involved in neuron projection guidance (GO:1902284)2.37010283
136negative regulation of protein localization to cell surface (GO:2000009)2.36941689
137protein retention in ER lumen (GO:0006621)2.36909917
138chondrocyte development (GO:0002063)2.31944681
139regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.31480999
140regulation of catenin import into nucleus (GO:0035412)2.28105195
141muscle cell migration (GO:0014812)2.26285995
142maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.25727744
143renal system development (GO:0072001)2.23663845
144hemidesmosome assembly (GO:0031581)2.23417278
145skin morphogenesis (GO:0043589)2.23219930
146axon extension (GO:0048675)2.22493680
147astrocyte development (GO:0014002)2.22144673
148positive regulation of catenin import into nucleus (GO:0035413)2.21399377
149establishment of tissue polarity (GO:0007164)2.20550438
150establishment of planar polarity (GO:0001736)2.20550438
151asymmetric protein localization (GO:0008105)2.19636462
152cellular potassium ion homeostasis (GO:0030007)2.18680778
153presynaptic membrane assembly (GO:0097105)2.17880073
154protein neddylation (GO:0045116)2.16485119
155mesenchymal-epithelial cell signaling (GO:0060638)2.16419243
156extracellular fibril organization (GO:0043206)2.16372255
157adherens junction assembly (GO:0034333)2.15975671
158peripheral nervous system axon ensheathment (GO:0032292)2.15053158
159myelination in peripheral nervous system (GO:0022011)2.15053158
160sodium ion export (GO:0071436)2.14738621
161positive regulation of osteoblast proliferation (GO:0033690)2.14401439
162establishment of integrated proviral latency (GO:0075713)2.11510047
163establishment of apical/basal cell polarity (GO:0035089)2.11450103
164regulation of integrin-mediated signaling pathway (GO:2001044)2.11325696
165cell adhesion mediated by integrin (GO:0033627)2.10973602
166negative regulation of catenin import into nucleus (GO:0035414)2.10757596
167mesenchyme morphogenesis (GO:0072132)2.10071050
168heparan sulfate proteoglycan metabolic process (GO:0030201)2.08748232
169cell-substrate junction assembly (GO:0007044)2.08691641
170dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.08564182
171establishment or maintenance of apical/basal cell polarity (GO:0035088)2.08239156
172establishment or maintenance of bipolar cell polarity (GO:0061245)2.08239156
173endocardial cushion morphogenesis (GO:0003203)2.07120663
174developmental induction (GO:0031128)2.07080997
175regulation of mammary gland epithelial cell proliferation (GO:0033599)2.06705413
176cell-cell signaling involved in cell fate commitment (GO:0045168)2.06353406
177negative regulation of cartilage development (GO:0061037)2.05837200
178regulation of cell fate specification (GO:0042659)2.05517795
179establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)2.02619906
180mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)2.02091468
181substrate adhesion-dependent cell spreading (GO:0034446)2.02078504
182cell migration involved in heart development (GO:0060973)2.01550164
183astrocyte differentiation (GO:0048708)2.01519392
184regulation of glomerular filtration (GO:0003093)2.01262924
185camera-type eye morphogenesis (GO:0048593)2.00853990
186extracellular matrix assembly (GO:0085029)1.98145919
187lymphangiogenesis (GO:0001946)1.96720433
188heterochromatin organization (GO:0070828)1.95990819
189positive regulation of SMAD protein import into nucleus (GO:0060391)1.94543826
190regulation of heart morphogenesis (GO:2000826)1.94516394
191metanephric mesenchyme development (GO:0072075)1.94013488
192presynaptic membrane organization (GO:0097090)1.93904197
193regulation of transcription from RNA polymerase II promoter involved in heart development (GO:1901211.93829296
194regulation of Wnt signaling pathway involved in heart development (GO:0003307)1.93386765
195negative regulation of stem cell proliferation (GO:2000647)1.91586662
196retina vasculature morphogenesis in camera-type eye (GO:0061299)1.91001656

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human7.49682456
2FOXM1_23109430_ChIP-Seq_U2OS_Human5.02941949
3MYC_18555785_ChIP-Seq_MESCs_Mouse4.06949510
4E2F4_17652178_ChIP-ChIP_JURKAT_Human3.45587610
5* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.41320244
6TRIM28_21343339_ChIP-Seq_HEK293_Human3.35832718
7FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.23608856
8* MYC_19079543_ChIP-ChIP_MESCs_Mouse3.16545081
9E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.01393780
10CREB1_15753290_ChIP-ChIP_HEK293T_Human2.90388683
11TP63_17297297_ChIP-ChIP_HaCaT_Human2.87545616
12ETS1_20019798_ChIP-Seq_JURKAT_Human2.82436751
13KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.72906453
14PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.72117515
15* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.69447448
16AR_21909140_ChIP-Seq_LNCAP_Human2.60202584
17MYC_18358816_ChIP-ChIP_MESCs_Mouse2.59619115
18EST1_17652178_ChIP-ChIP_JURKAT_Human2.54819952
19JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.52963134
20MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.52068161
21XRN2_22483619_ChIP-Seq_HELA_Human2.44319502
22GABP_17652178_ChIP-ChIP_JURKAT_Human2.44008401
23WT1_19549856_ChIP-ChIP_CCG9911_Human2.36294598
24EGR1_19374776_ChIP-ChIP_THP-1_Human2.31908115
25* TCF3_18467660_ChIP-ChIP_MESCs_Mouse2.29310896
26WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.26220481
27NELFA_20434984_ChIP-Seq_ESCs_Mouse2.24522934
28RARG_19884340_ChIP-ChIP_MEFs_Mouse2.24284419
29VDR_23849224_ChIP-Seq_CD4+_Human2.00016032
30KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.99421734
31MYCN_18555785_ChIP-Seq_MESCs_Mouse1.95020784
32E2F1_21310950_ChIP-Seq_MCF-7_Human1.94946419
33SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.87874197
34CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.87797357
35MYC_22102868_ChIP-Seq_BL_Human1.87673548
36GABP_19822575_ChIP-Seq_HepG2_Human1.86452060
37NANOG_18555785_ChIP-Seq_MESCs_Mouse1.83969465
38POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.81875002
39* CLOCK_20551151_ChIP-Seq_293T_Human1.80734732
40ZNF263_19887448_ChIP-Seq_K562_Human1.76671414
41EZH2_18974828_ChIP-Seq_MESCs_Mouse1.76506456
42RNF2_18974828_ChIP-Seq_MESCs_Mouse1.76506456
43DCP1A_22483619_ChIP-Seq_HELA_Human1.75506527
44* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.73525771
45HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.72599307
46TP63_19390658_ChIP-ChIP_HaCaT_Human1.71054376
47EED_16625203_ChIP-ChIP_MESCs_Mouse1.70858657
48* E2F1_18555785_ChIP-Seq_MESCs_Mouse1.70678374
49KDM5A_27292631_Chip-Seq_BREAST_Human1.69064239
50TTF2_22483619_ChIP-Seq_HELA_Human1.68645875
51EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.64414787
52PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.63832698
53RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.63035404
54PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.61016334
55FOXP3_21729870_ChIP-Seq_TREG_Human1.60749239
56CIITA_25753668_ChIP-Seq_RAJI_Human1.60492488
57* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.56080517
58RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.55396611
59YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.52588613
60THAP11_20581084_ChIP-Seq_MESCs_Mouse1.51469720
61CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.50390019
62ZFP281_18757296_ChIP-ChIP_E14_Mouse1.49355765
63KLF4_18555785_ChIP-Seq_MESCs_Mouse1.49047476
64SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.48953010
65SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.46756945
66SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.44684011
67CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.42880809
68SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.42442023
69SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.41623817
70KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.41260554
71KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.41260554
72KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.41260554
73EZH2_27304074_Chip-Seq_ESCs_Mouse1.40521441
74POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.40097009
75BRD4_25478319_ChIP-Seq_HGPS_Human1.39630662
76DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.37368716
77HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.36103326
78RNF2_27304074_Chip-Seq_ESCs_Mouse1.35622097
79SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.34757712
80ESR1_15608294_ChIP-ChIP_MCF-7_Human1.34140529
81* CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.32986741
82YY1_21170310_ChIP-Seq_MESCs_Mouse1.31213098
83ERG_21242973_ChIP-ChIP_JURKAT_Human1.30692942
84SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.30672371
85EP300_21415370_ChIP-Seq_HL-1_Mouse1.29220951
86STAT3_1855785_ChIP-Seq_MESCs_Mouse1.29213220
87ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.25959027
88TP53_20018659_ChIP-ChIP_R1E_Mouse1.25914433
89SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.25754638
90FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.25066568
91TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.25042132
92CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.24617305
93ELK1_19687146_ChIP-ChIP_HELA_Human1.24427081
94NANOG_21062744_ChIP-ChIP_HESCs_Human1.24210191
95SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.23346933
96RING1B_27294783_Chip-Seq_NPCs_Mouse1.23216029
97SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.22565488
98NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.22459935
99TCF3_18692474_ChIP-Seq_MESCs_Mouse1.21252728
100ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.19654044
101HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.19650435
102RING1B_27294783_Chip-Seq_ESCs_Mouse1.18868570
103KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.16672835
104SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.16249131
105ZFP281_27345836_Chip-Seq_ESCs_Mouse1.15503658
106SOX2_18555785_ChIP-Seq_MESCs_Mouse1.15465362
107* P300_27058665_Chip-Seq_ZR-75-30cells_Human1.15102272
108ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.14458031
109KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.13692412
110MTF2_20144788_ChIP-Seq_MESCs_Mouse1.12388764
111JARID2_20064375_ChIP-Seq_MESCs_Mouse1.12311769
112E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.12242055
113NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.11873484
114TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.11410576
115CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.10718043
116* ISL1_27105846_Chip-Seq_CPCs_Mouse1.10156717
117CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.10042978
118CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.09350744
119* DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.08726766
120NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.08094371
121POU5F1_16153702_ChIP-ChIP_HESCs_Human1.07809330
122YAP1_20516196_ChIP-Seq_MESCs_Mouse1.07351514
123PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.07131182
124SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.07114894
125ELF1_17652178_ChIP-ChIP_JURKAT_Human1.06261623
126TBX3_20139965_ChIP-Seq_MESCs_Mouse1.06227308
127TBX3_20139965_ChIP-Seq_ESCs_Mouse1.05763043
128PADI4_21655091_ChIP-ChIP_MCF-7_Human1.04883012
129POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.04663591
130* OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.04339832
131CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.03773282
132SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.02555292
133SOX9_24532713_ChIP-Seq_HFSC_Mouse1.02400329
134NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.02324680
135TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.02162064
136CHD1_26751641_Chip-Seq_LNCaP_Human1.01829119
137CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.01829077
138ZNF217_24962896_ChIP-Seq_MCF-7_Human1.00501992
139ELK1_22589737_ChIP-Seq_MCF10A_Human1.00481487
140SOX17_20123909_ChIP-Seq_XEN_Mouse0.99224485
141GATA1_26923725_Chip-Seq_HPCs_Mouse0.98837832
142NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.98678096
143* TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.98500879
144* NANOG_18692474_ChIP-Seq_MEFs_Mouse0.98457123
145TFEB_21752829_ChIP-Seq_HELA_Human0.97787360
146POU5F1_18347094_ChIP-ChIP_MESCs_Mouse0.97661881
147JARID2_20075857_ChIP-Seq_MESCs_Mouse0.97513365
148ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.97323370
149BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.96960065
150MEF2A_21415370_ChIP-Seq_HL-1_Mouse0.96895738
151TCF3_18692474_ChIP-Seq_MEFs_Mouse0.96224467
152HOXB4_20404135_ChIP-ChIP_EML_Mouse0.94937083
153ESR2_21235772_ChIP-Seq_MCF-7_Human0.94869790
154SALL1_21062744_ChIP-ChIP_HESCs_Human0.93901682
155TP53_18474530_ChIP-ChIP_U2OS_Human0.93179152
156TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.91295161
157MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.90792273
158VDR_21846776_ChIP-Seq_THP-1_Human0.90718435
159ATF3_27146783_Chip-Seq_COLON_Human0.87782402
160RBPJ_22232070_ChIP-Seq_NCS_Mouse0.86630886
161* OCT4_18692474_ChIP-Seq_MEFs_Mouse0.85285152
162ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.84198766
163ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.84106283
164ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.83235758
165SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.82670199
166* EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.81844288
167* SOX2_18692474_ChIP-Seq_MEFs_Mouse0.81749989
168FOXP1_21924763_ChIP-Seq_HESCs_Human0.81197125
169TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.80242539
170HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.80110612

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching5.37268394
2MP0003111_abnormal_nucleus_morphology4.43315952
3MP0008438_abnormal_cutaneous_collagen4.21294655
4MP0004957_abnormal_blastocyst_morpholog4.00140882
5MP0003077_abnormal_cell_cycle3.68284299
6MP0010094_abnormal_chromosome_stability3.66295114
7MP0003123_paternal_imprinting3.21177146
8MP0008057_abnormal_DNA_replication2.88413503
9MP0004272_abnormal_basement_membrane2.80930653
10MP0001730_embryonic_growth_arrest2.69667485
11MP0010368_abnormal_lymphatic_system2.51322653
12MP0008007_abnormal_cellular_replicative2.49108922
13MP0005623_abnormal_meninges_morphology2.47583141
14MP0008932_abnormal_embryonic_tissue2.43256553
15MP0000350_abnormal_cell_proliferation2.26356944
16MP0008058_abnormal_DNA_repair2.18438465
17MP0003718_maternal_effect2.17684496
18MP0005380_embryogenesis_phenotype2.17047503
19MP0001672_abnormal_embryogenesis/_devel2.17047503
20MP0009379_abnormal_foot_pigmentation2.09140119
21MP0005503_abnormal_tendon_morphology2.01944954
22MP0010307_abnormal_tumor_latency1.98838521
23MP0003984_embryonic_growth_retardation1.96161301
24MP0001697_abnormal_embryo_size1.94830780
25MP0002088_abnormal_embryonic_growth/wei1.93040548
26MP0010030_abnormal_orbit_morphology1.92936067
27MP0003566_abnormal_cell_adhesion1.92016200
28MP0005275_abnormal_skin_tensile1.91777139
29MP0003705_abnormal_hypodermis_morpholog1.88832756
30MP0002085_abnormal_embryonic_tissue1.85561258
31MP0003567_abnormal_fetal_cardiomyocyte1.81837064
32MP0003279_aneurysm1.81310632
33MP0005076_abnormal_cell_differentiation1.79533223
34MP0009780_abnormal_chondrocyte_physiolo1.78826214
35* MP0002080_prenatal_lethality1.75414159
36MP0002084_abnormal_developmental_patter1.75088973
37MP0010352_gastrointestinal_tract_polyps1.74301800
38MP0000762_abnormal_tongue_morphology1.73088310
39MP0004197_abnormal_fetal_growth/weight/1.70159583
40MP0009384_cardiac_valve_regurgitation1.70085652
41MP0002396_abnormal_hematopoietic_system1.69230434
42MP0000537_abnormal_urethra_morphology1.67288813
43MP0001958_emphysema1.66557102
44MP0003786_premature_aging1.58583389
45MP0000049_abnormal_middle_ear1.56967515
46MP0000579_abnormal_nail_morphology1.56865597
47MP0002086_abnormal_extraembryonic_tissu1.56823203
48MP0001299_abnormal_eye_distance/1.56026349
49MP0009053_abnormal_anal_canal1.55243451
50MP0000428_abnormal_craniofacial_morphol1.52211341
51MP0009672_abnormal_birth_weight1.50049213
52MP0001879_abnormal_lymphatic_vessel1.48181026
53MP0003942_abnormal_urinary_system1.47052370
54MP0000750_abnormal_muscle_regeneration1.42345024
55MP0001293_anophthalmia1.41603569
56MP0003937_abnormal_limbs/digits/tail_de1.40447168
57MP0005409_darkened_coat_color1.40001016
58MP0003385_abnormal_body_wall1.39940820
59MP0000733_abnormal_muscle_development1.38910936
60MP0004859_abnormal_synaptic_plasticity1.35849538
61MP0003315_abnormal_perineum_morphology1.29826831
62MP0008877_abnormal_DNA_methylation1.28274965
63MP0002249_abnormal_larynx_morphology1.27859443
64MP0003119_abnormal_digestive_system1.27480136
65MP0004808_abnormal_hematopoietic_stem1.24079782
66MP0002653_abnormal_ependyma_morphology1.22693850
67MP0009333_abnormal_splenocyte_physiolog1.22539046
68MP0005171_absent_coat_pigmentation1.20385962
69MP0003121_genomic_imprinting1.19365855
70MP0000313_abnormal_cell_death1.19286083
71MP0009703_decreased_birth_body1.17931232
72MP0004858_abnormal_nervous_system1.17268449
73MP0002060_abnormal_skin_morphology1.16300679
74MP0003221_abnormal_cardiomyocyte_apopto1.15558761
75MP0000566_synostosis1.13824942
76MP0001849_ear_inflammation1.12522638
77MP0000467_abnormal_esophagus_morphology1.11938540
78MP0000778_abnormal_nervous_system1.09840896
79MP0002092_abnormal_eye_morphology1.08373814
80MP0009278_abnormal_bone_marrow1.07018821
81MP0003938_abnormal_ear_development1.05810351
82MP0002896_abnormal_bone_mineralization1.05082749
83MP0002111_abnormal_tail_morphology1.03781680
84MP0002116_abnormal_craniofacial_bone1.02982966
85MP0000490_abnormal_crypts_of1.01145799
86MP0000767_abnormal_smooth_muscle1.01015807
87MP0002210_abnormal_sex_determination1.00961986
88MP0003935_abnormal_craniofacial_develop0.99815184
89MP0004084_abnormal_cardiac_muscle0.97604607
90MP0008260_abnormal_autophagy0.96800734
91MP0001177_atelectasis0.96604099
92MP0000462_abnormal_digestive_system0.96348044
93MP0006292_abnormal_olfactory_placode0.96330551
94MP0003091_abnormal_cell_migration0.96080966
95MP0005397_hematopoietic_system_phenotyp0.95942119
96MP0001545_abnormal_hematopoietic_system0.95942119
97MP0002019_abnormal_tumor_incidence0.95366167
98MP0004885_abnormal_endolymph0.93632117
99MP0003283_abnormal_digestive_organ0.93483706
100MP0002736_abnormal_nociception_after0.92455675
101MP0001145_abnormal_male_reproductive0.91604152
102MP0005187_abnormal_penis_morphology0.91419483
103MP0003755_abnormal_palate_morphology0.90831629
104MP0001188_hyperpigmentation0.90497655
105MP0002177_abnormal_outer_ear0.89923572
106MP0005023_abnormal_wound_healing0.89516470
107MP0003136_yellow_coat_color0.87398457
108MP0003115_abnormal_respiratory_system0.86715585
109MP0004185_abnormal_adipocyte_glucose0.86035875
110MP0001542_abnormal_bone_strength0.85089703
111MP0003890_abnormal_embryonic-extraembry0.83890361
112MP0003941_abnormal_skin_development0.83889881
113MP0002938_white_spotting0.83845323
114MP0005257_abnormal_intraocular_pressure0.83805888
115MP0005501_abnormal_skin_physiology0.83716030
116MP0001286_abnormal_eye_development0.83607931
117MP0000751_myopathy0.82035692
118MP0005595_abnormal_vascular_smooth0.81004145
119* MP0000432_abnormal_head_morphology0.80845902
120MP0000653_abnormal_sex_gland0.78717167
121MP0004270_analgesia0.78513928
122MP0002932_abnormal_joint_morphology0.77528921
123MP0003878_abnormal_ear_physiology0.76459124
124MP0005377_hearing/vestibular/ear_phenot0.76459124
125MP0005197_abnormal_uvea_morphology0.76441091
126MP0001340_abnormal_eyelid_morphology0.76207403
127MP0002081_perinatal_lethality0.76198134
128MP0002282_abnormal_trachea_morphology0.75939966
129MP0000383_abnormal_hair_follicle0.74940877
130MP0002089_abnormal_postnatal_growth/wei0.74712337
131MP0002295_abnormal_pulmonary_circulatio0.73270958
132MP0009840_abnormal_foam_cell0.73064775
133MP0000163_abnormal_cartilage_morphology0.72978215
134* MP0005621_abnormal_cell_physiology0.72349661
135MP0002796_impaired_skin_barrier0.72288439
136MP0001915_intracranial_hemorrhage0.72036337
137MP0004233_abnormal_muscle_weight0.72002261
138MP0002114_abnormal_axial_skeleton0.71826724
139MP0001929_abnormal_gametogenesis0.71640795
140MP0000747_muscle_weakness0.71333644
141MP0005394_taste/olfaction_phenotype0.71177125
142MP0005499_abnormal_olfactory_system0.71177125
143MP0003861_abnormal_nervous_system0.70744320
144MP0002108_abnormal_muscle_morphology0.70694116
145MP0004134_abnormal_chest_morphology0.70261434
146* MP0005384_cellular_phenotype0.68455283
147MP0002234_abnormal_pharynx_morphology0.67905463
148MP0002233_abnormal_nose_morphology0.67452104
149MP0005508_abnormal_skeleton_morphology0.65794289
150MP0005395_other_phenotype0.65615452
151MP0002925_abnormal_cardiovascular_devel0.64230317
152MP0000627_abnormal_mammary_gland0.63700977
153MP0008789_abnormal_olfactory_epithelium0.63433473
154MP0002697_abnormal_eye_size0.62955865
155MP0000534_abnormal_ureter_morphology0.62915251
156MP0009250_abnormal_appendicular_skeleto0.61521222
157MP0001661_extended_life_span0.61407728
158MP0000358_abnormal_cell_content/0.61128981
159MP0000703_abnormal_thymus_morphology0.60488536
160MP0002877_abnormal_melanocyte_morpholog0.60249739
161MP0000377_abnormal_hair_follicle0.59206937

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)5.00391371
2Birth length less than 3rd percentile (HP:0003561)4.62478840
3Breast hypoplasia (HP:0003187)4.26954330
4Patellar aplasia (HP:0006443)3.73711559
5Impulsivity (HP:0100710)3.72934345
6Aplasia/Hypoplasia of the patella (HP:0006498)3.71760895
7Multiple enchondromatosis (HP:0005701)3.53785149
8Carpal bone hypoplasia (HP:0001498)3.50567788
9Cerebral hypomyelination (HP:0006808)3.25506806
10Neonatal short-limb short stature (HP:0008921)3.23323687
11Abnormality of dentin (HP:0010299)3.16222328
12Vascular tortuosity (HP:0004948)3.14275490
13Selective tooth agenesis (HP:0001592)3.08417529
14Bladder diverticulum (HP:0000015)3.05869454
15Spinal rigidity (HP:0003306)3.03943951
16Rough bone trabeculation (HP:0100670)3.02847364
17Atrophic scars (HP:0001075)3.00433900
18Hyperglycinemia (HP:0002154)2.91353622
19Aortic dissection (HP:0002647)2.89377073
20Soft skin (HP:0000977)2.88068086
21Bowel diverticulosis (HP:0005222)2.84519813
22Arterial tortuosity (HP:0005116)2.84405821
23Coronal craniosynostosis (HP:0004440)2.81329293
24Pelvic girdle muscle weakness (HP:0003749)2.70303332
25Fragile skin (HP:0001030)2.66842613
26Back pain (HP:0003418)2.66162250
27Atresia of the external auditory canal (HP:0000413)2.65483117
28Abnormality of the umbilical cord (HP:0010881)2.64166967
29Broad metatarsal (HP:0001783)2.63034690
30Facial hemangioma (HP:0000329)2.62722672
31Trismus (HP:0000211)2.62541939
32Degeneration of anterior horn cells (HP:0002398)2.62362183
33Abnormality of the anterior horn cell (HP:0006802)2.62362183
34Progressive muscle weakness (HP:0003323)2.60315576
35Genu recurvatum (HP:0002816)2.53912675
36Colon cancer (HP:0003003)2.53277598
37Ependymoma (HP:0002888)2.51766002
38Abnormality of the labia minora (HP:0012880)2.49697053
39Glossoptosis (HP:0000162)2.49569611
40Ankle contracture (HP:0006466)2.45750310
41Entropion (HP:0000621)2.45484399
42Absent radius (HP:0003974)2.45194654
43Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.41905537
44Aortic aneurysm (HP:0004942)2.40390011
45Ureteral duplication (HP:0000073)2.40199488
46Oligodactyly (HP:0012165)2.37906777
47Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.37488398
48Short 4th metacarpal (HP:0010044)2.37488398
49Premature rupture of membranes (HP:0001788)2.35524807
50Reticulocytopenia (HP:0001896)2.31621699
51Absent forearm bone (HP:0003953)2.31585501
52Aplasia involving forearm bones (HP:0009822)2.31585501
53Secondary amenorrhea (HP:0000869)2.30236756
54Shoulder girdle muscle weakness (HP:0003547)2.28583731
55Deviation of the hallux (HP:0010051)2.27571132
56Abnormality of cells of the erythroid lineage (HP:0012130)2.26021544
57Abnormality of the hip-girdle musculature (HP:0001445)2.25827238
58Abnormality of the musculature of the pelvis (HP:0001469)2.25827238
59Microretrognathia (HP:0000308)2.25509438
60Meckel diverticulum (HP:0002245)2.24162612
61Type 1 muscle fiber predominance (HP:0003803)2.24107915
62Oral leukoplakia (HP:0002745)2.22563922
63Partial duplication of the phalanx of hand (HP:0009999)2.22424888
64Renal duplication (HP:0000075)2.20626426
65Premature ovarian failure (HP:0008209)2.19198134
66Hallux valgus (HP:0001822)2.18110325
67Wormian bones (HP:0002645)2.17962273
68Hyperacusis (HP:0010780)2.17947498
69Neoplasm of the pancreas (HP:0002894)2.17361188
70Abnormal trabecular bone morphology (HP:0100671)2.17074005
71Follicular hyperkeratosis (HP:0007502)2.16829163
72Increased variability in muscle fiber diameter (HP:0003557)2.15871798
73Mitral regurgitation (HP:0001653)2.15703945
74Abnormality of the 4th metacarpal (HP:0010012)2.15226732
75Atrioventricular block (HP:0001678)2.14936650
76Proximal placement of thumb (HP:0009623)2.13416343
77Breech presentation (HP:0001623)2.13211188
78Prominent nose (HP:0000448)2.12227972
79Hyperextensible skin (HP:0000974)2.12096410
80Hyperglycinuria (HP:0003108)2.11914613
81Pterygium (HP:0001059)2.11628824
82Turricephaly (HP:0000262)2.11301855
83Shallow orbits (HP:0000586)2.11227087
84Blue sclerae (HP:0000592)2.08486495
85Microglossia (HP:0000171)2.07797109
86Slender long bone (HP:0003100)2.07227749
87Muscle fiber splitting (HP:0003555)2.07172411
88Deviation of the thumb (HP:0009603)2.07127383
89Hypoplasia of the capital femoral epiphysis (HP:0003090)2.03618525
90Difficulty climbing stairs (HP:0003551)2.02869435
91Abnormality of the ileum (HP:0001549)2.02740502
92Aplasia/Hypoplasia of the sternum (HP:0006714)2.02090884
93Abnormality of the distal phalanges of the toes (HP:0010182)2.02028048
94Overgrowth (HP:0001548)2.01648314
95Ulnar bowing (HP:0003031)2.00872189
96Abnormal number of erythroid precursors (HP:0012131)1.99832052
97Bundle branch block (HP:0011710)1.98601241
98Insomnia (HP:0100785)1.98388401
99Overlapping toe (HP:0001845)1.98195829
100Partial duplication of thumb phalanx (HP:0009944)1.98185467
101Enlarged penis (HP:0000040)1.97194056
102Increased nuchal translucency (HP:0010880)1.96595135
103Deformed tarsal bones (HP:0008119)1.95481859
104Slender build (HP:0001533)1.95290258
105Sparse lateral eyebrow (HP:0005338)1.93306190
106Abnormality of the calcaneus (HP:0008364)1.91414425
107Hypoventilation (HP:0002791)1.91070339
108Horseshoe kidney (HP:0000085)1.90307838
109Arnold-Chiari malformation (HP:0002308)1.89811329
110Tracheoesophageal fistula (HP:0002575)1.88816445
111Abnormality of the proximal phalanges of the hand (HP:0009834)1.88785005
112Areflexia of lower limbs (HP:0002522)1.88348109
113Wide anterior fontanel (HP:0000260)1.87801815
114Medulloblastoma (HP:0002885)1.87778978
115Breast aplasia (HP:0100783)1.87276681
116Aplasia/hypoplasia of the humerus (HP:0006507)1.86981166
117Split foot (HP:0001839)1.86796024
118Calcaneovalgus deformity (HP:0001848)1.86157264
119Short middle phalanx of the 5th finger (HP:0004220)1.85399662
120Vertebral arch anomaly (HP:0008438)1.85033755
121Abnormality of the preputium (HP:0100587)1.84759200
122Overriding aorta (HP:0002623)1.84033360
123Oligodactyly (hands) (HP:0001180)1.83966915
124Abnormal number of incisors (HP:0011064)1.83809108
125Abnormality of the diencephalon (HP:0010662)1.83472297
126Abnormality of skeletal muscle fiber size (HP:0012084)1.83078149
127Short palpebral fissure (HP:0012745)1.81801986
128Aplasia/Hypoplasia of the breasts (HP:0010311)1.81033331
129Mitral valve prolapse (HP:0001634)1.80865832
130Macrocytic anemia (HP:0001972)1.80802595
131Generalized amyotrophy (HP:0003700)1.80796694
132Abnormal delivery (HP:0001787)1.80599791
133Mild short stature (HP:0003502)1.80397307
134Glioma (HP:0009733)1.79885383
135Aplasia involving bones of the upper limbs (HP:0009823)1.79613483
136Aplasia of the phalanges of the hand (HP:0009802)1.79613483
137Aplasia involving bones of the extremities (HP:0009825)1.79613483
138Chromosomal breakage induced by crosslinking agents (HP:0003221)1.78829697
139Thin ribs (HP:0000883)1.77723972
140Abnormality of the phalanges of the hallux (HP:0010057)1.76741402
141Short thumb (HP:0009778)1.76669185
142CNS hypomyelination (HP:0003429)1.75832537
143Irregular epiphyses (HP:0010582)1.75138665
144Osteolytic defects of the hand bones (HP:0009699)1.74638672
145Osteolytic defects of the phalanges of the hand (HP:0009771)1.74638672
146Abnormality of chromosome stability (HP:0003220)1.74538696
147Limb-girdle muscle weakness (HP:0003325)1.74350213
148Small epiphyses (HP:0010585)1.73380581
149Chromsome breakage (HP:0040012)1.71522806
150Microtia (HP:0008551)1.71044641
151Gout (HP:0001997)1.69357992
152Absent thumb (HP:0009777)1.68768859
153Biconcave vertebral bodies (HP:0004586)1.68255287
154Spinal muscular atrophy (HP:0007269)1.68058552
155Aplasia/Hypoplasia involving the musculature (HP:0001460)1.67739477
156Increased mean platelet volume (HP:0011877)1.67560006
157Small intestinal stenosis (HP:0012848)1.67373674
158Duodenal stenosis (HP:0100867)1.67373674
159Obstructive sleep apnea (HP:0002870)1.64327259
160Asymmetry of the thorax (HP:0001555)1.63296727
161Hydroureter (HP:0000072)1.63081412
162Camptodactyly of toe (HP:0001836)1.62361509
163Protruding ear (HP:0000411)1.62012980
164Joint laxity (HP:0001388)1.61874414
165Elfin facies (HP:0004428)1.61050978
166Congenital glaucoma (HP:0001087)1.58755703
167Broad long bones (HP:0005622)1.57988493
168Ankyloglossia (HP:0010296)1.56624175
169Flat cornea (HP:0007720)1.56590072
170Vertebral compression fractures (HP:0002953)1.56278276
171Megalencephaly (HP:0001355)1.54178828
172Mildly elevated creatine phosphokinase (HP:0008180)1.53941609
173Elbow flexion contracture (HP:0002987)1.53753798
174Septo-optic dysplasia (HP:0100842)1.53423326
175Achilles tendon contracture (HP:0001771)1.53406976
176Morphological abnormality of the middle ear (HP:0008609)1.52952983
177Buphthalmos (HP:0000557)1.52754176
178Cervical subluxation (HP:0003308)1.52624733
179Vertebral clefting (HP:0008428)1.51066623
180Infantile muscular hypotonia (HP:0008947)1.50975469
181Spinal cord compression (HP:0002176)1.50812699
182Disproportionate tall stature (HP:0001519)1.47516441
183Abnormality of the acetabulum (HP:0003170)1.46423417
184Hyperparathyroidism (HP:0000843)1.46233782
185Renovascular hypertension (HP:0100817)1.44834526
186Knee flexion contracture (HP:0006380)1.44639929
187Dilatation of the ascending aorta (HP:0005111)1.44639813
188Missing ribs (HP:0000921)1.44348723
189Synostosis of carpal bones (HP:0005048)1.44310376
190Limited hip movement (HP:0008800)1.42655948

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB15.02245442
2WEE14.16045893
3NEK23.45215966
4CDC73.02239535
5NTRK12.85056449
6EIF2AK12.76387206
7BRSK22.52755241
8NME22.34481546
9MKNK22.31471437
10MKNK12.30613921
11TRIB32.29449419
12SRPK12.27689077
13PLK42.27209958
14EPHB22.24118144
15TSSK62.19529836
16TTK2.18313948
17PTK22.17966187
18PRKD32.13251527
19DYRK32.07448893
20MYLK2.04799911
21NEK11.95866774
22PLK11.93863278
23RPS6KA41.91213670
24PBK1.90518245
25PLK31.84241444
26BRSK11.79636467
27EEF2K1.70430454
28TESK21.66586792
29TESK11.63113239
30PKN21.62572584
31STK31.61657866
32LATS21.60746587
33AURKB1.59180995
34MET1.56483043
35DMPK1.52635599
36ERBB41.50034801
37ALK1.46688999
38CDK41.45048264
39CDK71.42320984
40LATS11.41894970
41CHEK21.39128196
42MAP3K81.37444368
43ACVR1B1.36145217
44ROCK21.34756632
45PAK61.28020303
46CDK121.25338800
47EPHA21.24727802
48MAP3K101.22411741
49CHEK11.20239765
50EIF2AK31.18873266
51RPS6KB21.17104069
52PLK21.16257977
53ATR1.13161783
54PASK1.12156769
55MOS1.11494267
56PAK41.09650855
57AURKA1.08780872
58TIE11.05574364
59KSR21.04277058
60ARAF1.03295183
61STK38L0.97252264
62RIPK10.96734937
63TTN0.93531907
64STK100.93490819
65ROCK10.93127992
66UHMK10.92255816
67CCNB10.89716326
68NEK90.89308323
69TNIK0.88239152
70PDGFRB0.87249797
71LRRK20.87168250
72AKT30.86951924
73CDK20.86799219
74LMTK20.85352128
75MARK10.85315756
76VRK10.84670639
77CDK60.84455224
78CDK140.80913069
79MTOR0.80293628
80VRK20.78674951
81CAMK2G0.77855977
82NTRK20.77782964
83STK40.75193102
84PAK10.74493214
85KSR10.74391476
86CDK150.74335911
87CDK11A0.72665352
88TAF10.72424678
89CDK180.72129525
90CAMK1G0.70169379
91ILK0.70082390
92MINK10.68848916
93ABL20.67139662
94ZAK0.66794244
95SIK10.66517012
96ATM0.65015205
97MUSK0.63789503
98CDK10.63209187
99CAMK2B0.63143205
100MELK0.62633331
101PIM10.62543212
102PAK20.61953288
103MARK30.61441687
104CAMK2D0.60704137
105SCYL20.60263359
106PRKCI0.58764525
107PTK60.56606761
108STK160.56057587
109SMG10.54580624
110DAPK30.53474602
111MAP2K10.53319006
112CSNK2A20.53153839
113CSNK1E0.52664445
114PDGFRA0.51509150
115AKT20.51085453
116CASK0.49402293
117CSNK2A10.47732526
118NTRK30.46882909
119MST40.46843737
120PRKG20.46156479
121PNCK0.45896208
122STK240.44854622
123TLK10.43766665
124CSNK1G20.43279042
125CSNK1G30.42282129
126PDK40.39516178
127PDK30.39516178
128BMX0.39480907
129MAP2K30.39300841
130PIM20.39244589
131FGFR10.38020107
132CSNK1A1L0.37400042
133DDR20.36938543
134MAP2K20.34500269
135CDK80.33941914
136BRAF0.32410919
137CSNK1G10.32212703
138TGFBR10.32130655
139BRD40.31792807
140TYRO30.30414845
141TAOK10.29927447
142LIMK10.29840446
143DYRK20.29242531
144NME10.27780380
145PRKDC0.27311238
146RPS6KA50.26625161
147RPS6KA10.24972804
148PINK10.24102607
149EIF2AK20.23731176

Predicted pathways (KEGG)

RankGene SetZ-score
1RNA polymerase_Homo sapiens_hsa030204.30406735
2Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030084.27715097
3Vitamin B6 metabolism_Homo sapiens_hsa007504.01815014
4RNA transport_Homo sapiens_hsa030133.75276137
5DNA replication_Homo sapiens_hsa030303.71410051
6Spliceosome_Homo sapiens_hsa030403.46770118
7Cell cycle_Homo sapiens_hsa041103.23576659
8Mismatch repair_Homo sapiens_hsa034302.81767481
9Ribosome_Homo sapiens_hsa030102.68407105
10Proteasome_Homo sapiens_hsa030502.62767694
11ECM-receptor interaction_Homo sapiens_hsa045122.61383184
12Pyrimidine metabolism_Homo sapiens_hsa002402.38393450
13Base excision repair_Homo sapiens_hsa034102.23021418
14Nucleotide excision repair_Homo sapiens_hsa034202.20584108
15Homologous recombination_Homo sapiens_hsa034402.15216647
16mRNA surveillance pathway_Homo sapiens_hsa030152.06707020
17p53 signaling pathway_Homo sapiens_hsa041151.97747924
18Basal transcription factors_Homo sapiens_hsa030221.93191590
19Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.89920207
20One carbon pool by folate_Homo sapiens_hsa006701.77137794
21Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.69219325
22Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.64048588
23Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.63724664
24Fanconi anemia pathway_Homo sapiens_hsa034601.57027651
25Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.55997473
26Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.55160680
27Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.55081543
28Gap junction_Homo sapiens_hsa045401.51928892
29RNA degradation_Homo sapiens_hsa030181.48166123
30Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.43567044
31Oocyte meiosis_Homo sapiens_hsa041141.43523931
32Melanogenesis_Homo sapiens_hsa049161.37219159
33Protein export_Homo sapiens_hsa030601.35135377
34Purine metabolism_Homo sapiens_hsa002301.35065115
35Epstein-Barr virus infection_Homo sapiens_hsa051691.34850878
36Dilated cardiomyopathy_Homo sapiens_hsa054141.33592493
37Regulation of actin cytoskeleton_Homo sapiens_hsa048101.25848918
38Axon guidance_Homo sapiens_hsa043601.20613447
39Pentose phosphate pathway_Homo sapiens_hsa000301.19234021
40Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.08899472
41Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.03664213
42Folate biosynthesis_Homo sapiens_hsa007901.02947342
43MicroRNAs in cancer_Homo sapiens_hsa052061.02394353
44Hippo signaling pathway_Homo sapiens_hsa043901.01142144
45Biosynthesis of amino acids_Homo sapiens_hsa012301.00945203
46Rap1 signaling pathway_Homo sapiens_hsa040150.93769276
47Viral carcinogenesis_Homo sapiens_hsa052030.92775662
48Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.91762339
49Small cell lung cancer_Homo sapiens_hsa052220.91616360
50Basal cell carcinoma_Homo sapiens_hsa052170.90570579
51Estrogen signaling pathway_Homo sapiens_hsa049150.89242212
52Prion diseases_Homo sapiens_hsa050200.89222626
53HTLV-I infection_Homo sapiens_hsa051660.88574886
54Long-term potentiation_Homo sapiens_hsa047200.87909748
55Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.86108932
56Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.84387369
57Cysteine and methionine metabolism_Homo sapiens_hsa002700.83511023
58Protein digestion and absorption_Homo sapiens_hsa049740.83181753
59Hedgehog signaling pathway_Homo sapiens_hsa043400.82419567
60mTOR signaling pathway_Homo sapiens_hsa041500.82077515
61Vibrio cholerae infection_Homo sapiens_hsa051100.81770125
62Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.80170254
63Non-homologous end-joining_Homo sapiens_hsa034500.80014733
64Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.79241380
65Thyroid cancer_Homo sapiens_hsa052160.78892355
66Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.77742886
67cGMP-PKG signaling pathway_Homo sapiens_hsa040220.76509191
68Amoebiasis_Homo sapiens_hsa051460.75444196
69Gastric acid secretion_Homo sapiens_hsa049710.75019020
70Herpes simplex infection_Homo sapiens_hsa051680.74502290
71Long-term depression_Homo sapiens_hsa047300.74204222
72Sulfur relay system_Homo sapiens_hsa041220.73711886
73Chronic myeloid leukemia_Homo sapiens_hsa052200.72909344
74Regulation of autophagy_Homo sapiens_hsa041400.72801698
75ErbB signaling pathway_Homo sapiens_hsa040120.72068807
76Phospholipase D signaling pathway_Homo sapiens_hsa040720.71880523
77Antigen processing and presentation_Homo sapiens_hsa046120.71697544
78Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.70337265
79Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.70206121
80Thyroid hormone synthesis_Homo sapiens_hsa049180.69994795
81Cocaine addiction_Homo sapiens_hsa050300.69258269
82Glutamatergic synapse_Homo sapiens_hsa047240.67697595
83Dopaminergic synapse_Homo sapiens_hsa047280.67572325
84Circadian entrainment_Homo sapiens_hsa047130.66384312
85TGF-beta signaling pathway_Homo sapiens_hsa043500.64495341
86AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.64359544
87Drug metabolism - other enzymes_Homo sapiens_hsa009830.63375147
88Bladder cancer_Homo sapiens_hsa052190.62593106
89Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.60515395
90Renal cell carcinoma_Homo sapiens_hsa052110.59675767
91Colorectal cancer_Homo sapiens_hsa052100.58873441
92Notch signaling pathway_Homo sapiens_hsa043300.57378923
93Insulin secretion_Homo sapiens_hsa049110.57309368
94Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.56704975
95Selenocompound metabolism_Homo sapiens_hsa004500.56011286
96Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.55957376
97Glutathione metabolism_Homo sapiens_hsa004800.55663019
98Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.55226030
99Platelet activation_Homo sapiens_hsa046110.54703026
100Amphetamine addiction_Homo sapiens_hsa050310.54047199
101Vascular smooth muscle contraction_Homo sapiens_hsa042700.53922443
102FoxO signaling pathway_Homo sapiens_hsa040680.53440229
103Prostate cancer_Homo sapiens_hsa052150.53180060
104Ras signaling pathway_Homo sapiens_hsa040140.53077022
105Endocytosis_Homo sapiens_hsa041440.52628466
106cAMP signaling pathway_Homo sapiens_hsa040240.52429191
107Endometrial cancer_Homo sapiens_hsa052130.51865331
108Neurotrophin signaling pathway_Homo sapiens_hsa047220.51584790
109Cholinergic synapse_Homo sapiens_hsa047250.50967079
110Fatty acid elongation_Homo sapiens_hsa000620.48645358
111Steroid biosynthesis_Homo sapiens_hsa001000.48399921
112Adherens junction_Homo sapiens_hsa045200.48225478
113Tight junction_Homo sapiens_hsa045300.47849482
114Systemic lupus erythematosus_Homo sapiens_hsa053220.47565800
115Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.47292583
116Glycerophospholipid metabolism_Homo sapiens_hsa005640.47060756
117Proteoglycans in cancer_Homo sapiens_hsa052050.46307403
118Carbon metabolism_Homo sapiens_hsa012000.46258238
119Longevity regulating pathway - mammal_Homo sapiens_hsa042110.44990266
120Central carbon metabolism in cancer_Homo sapiens_hsa052300.44633813
121Non-small cell lung cancer_Homo sapiens_hsa052230.43321191
122Thyroid hormone signaling pathway_Homo sapiens_hsa049190.40359592
123HIF-1 signaling pathway_Homo sapiens_hsa040660.39586764
124Vitamin digestion and absorption_Homo sapiens_hsa049770.39417161
125Pathways in cancer_Homo sapiens_hsa052000.38936042
126Apoptosis_Homo sapiens_hsa042100.34713632
1272-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.34540204
128Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.34077501
129Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.32960626
130Wnt signaling pathway_Homo sapiens_hsa043100.32782642
131Hepatitis B_Homo sapiens_hsa051610.32503173
132Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.30387501
133Transcriptional misregulation in cancer_Homo sapiens_hsa052020.30342295
134Melanoma_Homo sapiens_hsa052180.29331310
135AMPK signaling pathway_Homo sapiens_hsa041520.28141883
136Cyanoamino acid metabolism_Homo sapiens_hsa004600.27844900
137Viral myocarditis_Homo sapiens_hsa054160.27513557
138Acute myeloid leukemia_Homo sapiens_hsa052210.24962244
139Fructose and mannose metabolism_Homo sapiens_hsa000510.23181946
140Pancreatic cancer_Homo sapiens_hsa052120.22820547
141PI3K-Akt signaling pathway_Homo sapiens_hsa041510.20377506
142Focal adhesion_Homo sapiens_hsa045100.16894969
143Glioma_Homo sapiens_hsa052140.16597345
144Circadian rhythm_Homo sapiens_hsa047100.15949794
145Arginine and proline metabolism_Homo sapiens_hsa003300.15929898
146Insulin signaling pathway_Homo sapiens_hsa049100.14845903
147VEGF signaling pathway_Homo sapiens_hsa043700.14793186
148Legionellosis_Homo sapiens_hsa051340.14369062
149Shigellosis_Homo sapiens_hsa051310.13486898

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