TMEM231

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 transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1axoneme assembly (GO:0035082)9.30411232
2left/right pattern formation (GO:0060972)7.90093161
3intraciliary transport (GO:0042073)6.88251782
4ventricular system development (GO:0021591)6.36017348
5* cilium organization (GO:0044782)6.17759137
6left/right axis specification (GO:0070986)6.07699355
7* cilium assembly (GO:0042384)6.03305029
8microtubule bundle formation (GO:0001578)5.80517921
9primary alcohol catabolic process (GO:0034310)5.42197048
10protein localization to cilium (GO:0061512)5.39570497
11vitamin transmembrane transport (GO:0035461)5.18072919
12cilium morphogenesis (GO:0060271)5.04556442
13regulation of microtubule-based movement (GO:0060632)4.88997611
14centriole assembly (GO:0098534)4.77149372
15* cellular component assembly involved in morphogenesis (GO:0010927)4.73251607
16microtubule-based movement (GO:0007018)4.46408311
17ethanol metabolic process (GO:0006067)4.40432645
18diterpenoid biosynthetic process (GO:0016102)4.37673920
19nucleobase biosynthetic process (GO:0046112)4.37606812
20purine nucleobase biosynthetic process (GO:0009113)4.36319188
21mitotic metaphase plate congression (GO:0007080)4.33807343
22negative regulation of T cell differentiation in thymus (GO:0033085)4.17620959
23* cell projection assembly (GO:0030031)4.12446266
24microtubule depolymerization (GO:0007019)4.04255568
25nonmotile primary cilium assembly (GO:0035058)4.03717084
26lung epithelium development (GO:0060428)3.99583121
27one-carbon compound transport (GO:0019755)3.98070128
28nucleoside diphosphate phosphorylation (GO:0006165)3.92155947
29pyrimidine-containing compound transmembrane transport (GO:0072531)3.90486917
30response to xenobiotic stimulus (GO:0009410)3.87623551
31intestinal epithelial cell development (GO:0060576)3.81002017
32DNA replication checkpoint (GO:0000076)3.68270783
33glomerular epithelial cell development (GO:0072310)3.63432298
34establishment of apical/basal cell polarity (GO:0035089)3.61268461
35microtubule polymerization or depolymerization (GO:0031109)3.59317971
36establishment of monopolar cell polarity (GO:0061162)3.58588458
37establishment or maintenance of monopolar cell polarity (GO:0061339)3.58588458
38sperm capacitation (GO:0048240)3.58447066
39regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.56210296
40metaphase plate congression (GO:0051310)3.55772645
41folic acid metabolic process (GO:0046655)3.54511267
42terpenoid biosynthetic process (GO:0016114)3.50008944
43formation of translation preinitiation complex (GO:0001731)3.46808596
44centriole replication (GO:0007099)3.45452955
45protein localization to kinetochore (GO:0034501)3.45197837
46ribosome biogenesis (GO:0042254)3.44264626
47determination of left/right symmetry (GO:0007368)3.43208728
48sperm motility (GO:0030317)3.41971047
49lateral sprouting from an epithelium (GO:0060601)3.36714134
50DNA replication-dependent nucleosome assembly (GO:0006335)3.29438805
51DNA replication-dependent nucleosome organization (GO:0034723)3.29438805
52determination of bilateral symmetry (GO:0009855)3.29381832
53* smoothened signaling pathway (GO:0007224)3.29012203
54retinoic acid metabolic process (GO:0042573)3.27447374
55mitotic sister chromatid segregation (GO:0000070)3.26891742
56establishment of tissue polarity (GO:0007164)3.24576433
57establishment of planar polarity (GO:0001736)3.24576433
58establishment of chromosome localization (GO:0051303)3.24002247
59specification of symmetry (GO:0009799)3.23921023
60ribosome assembly (GO:0042255)3.21942297
61negative regulation of B cell mediated immunity (GO:0002713)3.21543621
62negative regulation of immunoglobulin mediated immune response (GO:0002890)3.21543621
63ethanol oxidation (GO:0006069)3.17508185
64blastocyst development (GO:0001824)3.17350763
65mitotic nuclear envelope disassembly (GO:0007077)3.17067249
66photoreceptor cell maintenance (GO:0045494)3.14848974
67cytoplasmic microtubule organization (GO:0031122)3.10555722
68DNA replication initiation (GO:0006270)3.10219874
69aldehyde catabolic process (GO:0046185)3.08883425
70tolerance induction (GO:0002507)3.08653795
71membrane disassembly (GO:0030397)3.08408790
72nuclear envelope disassembly (GO:0051081)3.08408790
73lateral ventricle development (GO:0021670)3.07659844
74protein polyglutamylation (GO:0018095)3.06674055
75termination of RNA polymerase III transcription (GO:0006386)3.04665447
76transcription elongation from RNA polymerase III promoter (GO:0006385)3.04665447
77regulation of double-strand break repair via homologous recombination (GO:0010569)3.04280036
78protein K6-linked ubiquitination (GO:0085020)3.03819213
79nuclear pore organization (GO:0006999)3.01246939
80negative regulation of chromosome segregation (GO:0051985)3.01129358
81retinal rod cell development (GO:0046548)3.00999718
82rRNA modification (GO:0000154)3.00923901
83spindle checkpoint (GO:0031577)3.00095274
84lung-associated mesenchyme development (GO:0060484)2.99198398
85regulation of spindle organization (GO:0090224)2.98796267
86anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.98759539
87regulation of interleukin-5 production (GO:0032674)2.98249633
88exogenous drug catabolic process (GO:0042738)2.97157848
89regulation of chromosome segregation (GO:0051983)2.96878381
90regulation of helicase activity (GO:0051095)2.96185435
91negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.94285798
92negative regulation of sister chromatid segregation (GO:0033046)2.94285798
93negative regulation of mitotic sister chromatid separation (GO:2000816)2.94285798
94negative regulation of mitotic sister chromatid segregation (GO:0033048)2.94285798
95mitotic spindle checkpoint (GO:0071174)2.92509818
96folic acid-containing compound biosynthetic process (GO:0009396)2.92502622
97protein localization to chromosome, centromeric region (GO:0071459)2.91235916
98glutathione derivative biosynthetic process (GO:1901687)2.90578127
99glutathione derivative metabolic process (GO:1901685)2.90578127
100regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.90554264
101mitotic spindle assembly checkpoint (GO:0007094)2.90434179
102regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.87086827
103negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.86549360
104DNA strand elongation involved in DNA replication (GO:0006271)2.86473084
105positive regulation of chromosome segregation (GO:0051984)2.85730891
106spindle assembly checkpoint (GO:0071173)2.85205777
107cullin deneddylation (GO:0010388)2.84764682
108microtubule-based process (GO:0007017)2.82970950
109positive regulation of smoothened signaling pathway (GO:0045880)2.81463498
110nuclear pore complex assembly (GO:0051292)2.80539189
111positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.80466653
112regulation of mitotic metaphase/anaphase transition (GO:0030071)2.79768291
113synaptonemal complex assembly (GO:0007130)2.79684351
114negative regulation of humoral immune response (GO:0002921)2.77263814
1157-methylguanosine mRNA capping (GO:0006370)2.76066917
116regulation of centrosome cycle (GO:0046605)2.74517012
117somatic diversification of immune receptors via somatic mutation (GO:0002566)2.74513534
118somatic hypermutation of immunoglobulin genes (GO:0016446)2.74513534
119protein deneddylation (GO:0000338)2.74140590
120regulation of metaphase/anaphase transition of cell cycle (GO:1902099)2.74120077
121* organelle assembly (GO:0070925)2.72798381
122retinal cone cell development (GO:0046549)2.72566001
123sister chromatid segregation (GO:0000819)2.72095924
124spindle assembly involved in mitosis (GO:0090307)2.71899350
125meiosis I (GO:0007127)2.71032000
126regulation of sister chromatid segregation (GO:0033045)2.71015195
127regulation of mitotic sister chromatid separation (GO:0010965)2.71015195
128regulation of mitotic sister chromatid segregation (GO:0033047)2.71015195
129anterior/posterior axis specification, embryo (GO:0008595)2.70135481
130DNA strand elongation (GO:0022616)2.69480235
131positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.69106987
132transcription from RNA polymerase I promoter (GO:0006360)2.68998232
133cornea development in camera-type eye (GO:0061303)2.68826007
134negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.67999239
135reciprocal meiotic recombination (GO:0007131)2.67722195
136reciprocal DNA recombination (GO:0035825)2.67722195
137spliceosomal snRNP assembly (GO:0000387)2.66728084
138maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.66554202
139negative regulation of proteasomal protein catabolic process (GO:1901799)2.66331626
140regulation of nuclear cell cycle DNA replication (GO:0033262)2.66322526
141negative regulation of inclusion body assembly (GO:0090084)2.66012173
1427-methylguanosine RNA capping (GO:0009452)2.65682653
143RNA capping (GO:0036260)2.65682653
144interferon-gamma secretion (GO:0072643)2.64552418
145mitotic chromosome condensation (GO:0007076)2.64500993
146negative regulation of histone methylation (GO:0031061)2.64109391
147inner cell mass cell proliferation (GO:0001833)2.62806173
148histone H4-K12 acetylation (GO:0043983)2.62296430
149retinol metabolic process (GO:0042572)2.60796233
150male meiosis I (GO:0007141)2.60271271
151negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)2.59050346
152kinetochore assembly (GO:0051382)2.58338744
153DNA replication-independent nucleosome organization (GO:0034724)2.56423960
154DNA replication-independent nucleosome assembly (GO:0006336)2.56423960
155regulation of interleukin-13 production (GO:0032656)2.56218590
156regulation of histone H3-K27 methylation (GO:0061085)2.55645083
157synaptonemal complex organization (GO:0070193)2.55584885
158attachment of spindle microtubules to kinetochore (GO:0008608)2.55247866
159IMP biosynthetic process (GO:0006188)2.55129408
160piRNA metabolic process (GO:0034587)2.54804347
161rRNA methylation (GO:0031167)2.53135507
162termination of RNA polymerase I transcription (GO:0006363)2.52896109
163transcription elongation from RNA polymerase I promoter (GO:0006362)2.52858600
164regulation of cilium movement (GO:0003352)2.52324403
165transcription initiation from RNA polymerase I promoter (GO:0006361)2.51965477
166transcription elongation from RNA polymerase II promoter (GO:0006368)2.51489422
167histone exchange (GO:0043486)2.51247975
168regulation of smoothened signaling pathway (GO:0008589)2.49919536
169limb development (GO:0060173)2.49490450
170appendage development (GO:0048736)2.49490450
171regulation of germinal center formation (GO:0002634)2.46659905
172primary alcohol metabolic process (GO:0034308)2.46452194
173regulation of collateral sprouting (GO:0048670)2.45788598
174GTP biosynthetic process (GO:0006183)2.45327971
175heart looping (GO:0001947)2.43992931
176apical protein localization (GO:0045176)2.43592485
177carnitine metabolic process (GO:0009437)2.37033193
178neurotransmitter catabolic process (GO:0042135)2.36972099
179regulation of microtubule depolymerization (GO:0031114)2.35961263
180drug catabolic process (GO:0042737)2.35096721
181intra-S DNA damage checkpoint (GO:0031573)2.30704666
182regulation of autophagic vacuole assembly (GO:2000785)2.29975907
183spermatid development (GO:0007286)2.29582876
184spinal cord motor neuron differentiation (GO:0021522)2.25397452
185O-glycan processing (GO:0016266)2.24623171
186excretion (GO:0007588)2.24367903
187microtubule severing (GO:0051013)2.23971847
188neurotransmitter metabolic process (GO:0042133)2.21481267
189embryonic heart tube morphogenesis (GO:0003143)2.20965713
190multicellular organism reproduction (GO:0032504)2.19721356
191neural tube formation (GO:0001841)2.15805589
192sialylation (GO:0097503)2.14620556
193negative regulation of JUN kinase activity (GO:0043508)2.12657766
194axonemal dynein complex assembly (GO:0070286)18.0978571
195cilium or flagellum-dependent cell motility (GO:0001539)15.0701719
196cilium movement (GO:0003341)13.9360350
197epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)13.0706249
198epithelial cilium movement (GO:0003351)12.5918758
199motile cilium assembly (GO:0044458)12.5892144

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human6.29841149
2MYC_18555785_ChIP-Seq_MESCs_Mouse3.63220116
3VDR_22108803_ChIP-Seq_LS180_Human3.29770256
4TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.20444793
5FOXM1_23109430_ChIP-Seq_U2OS_Human3.16528425
6KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.15272623
7MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse3.09743387
8JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.95768993
9E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.95000945
10MYC_19079543_ChIP-ChIP_MESCs_Mouse2.89981149
11ETS1_20019798_ChIP-Seq_JURKAT_Human2.72707879
12EST1_17652178_ChIP-ChIP_JURKAT_Human2.69359353
13CREB1_15753290_ChIP-ChIP_HEK293T_Human2.63759176
14MYC_19030024_ChIP-ChIP_MESCs_Mouse2.63018464
15E2F4_17652178_ChIP-ChIP_JURKAT_Human2.62722643
16FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.62648272
17NANOG_18555785_ChIP-Seq_MESCs_Mouse2.58933859
18MYC_18358816_ChIP-ChIP_MESCs_Mouse2.54412820
19DROSHA_22980978_ChIP-Seq_HELA_Human2.50676064
20GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.46454891
21GABP_17652178_ChIP-ChIP_JURKAT_Human2.45488542
22EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.41677353
23NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.38823164
24ZNF274_21170338_ChIP-Seq_K562_Hela2.33429816
25CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.25076326
26* KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.23211923
27AR_21909140_ChIP-Seq_LNCAP_Human2.22382500
28FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human2.22136324
29HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.20041010
30NELFA_20434984_ChIP-Seq_ESCs_Mouse2.18787470
31POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.18277357
32NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.17751193
33PIAS1_25552417_ChIP-Seq_VCAP_Human2.11923988
34POU5F1_18555785_ChIP-Seq_MESCs_Mouse2.11830380
35GBX2_23144817_ChIP-Seq_PC3_Human2.08572048
36E2F1_18555785_ChIP-Seq_MESCs_Mouse2.03575020
37PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.02246179
38CTBP2_25329375_ChIP-Seq_LNCAP_Human2.01685231
39MYCN_18555785_ChIP-Seq_MESCs_Mouse2.00926003
40NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.99244831
41MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.97932588
42SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.96736652
43CTBP1_25329375_ChIP-Seq_LNCAP_Human1.91977354
44KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.91449894
45KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.91449894
46KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.91449894
47SALL1_21062744_ChIP-ChIP_HESCs_Human1.89732898
48RBPJ_22232070_ChIP-Seq_NCS_Mouse1.89365311
49NR3C1_21868756_ChIP-Seq_MCF10A_Human1.87252817
50XRN2_22483619_ChIP-Seq_HELA_Human1.87090418
51THAP11_20581084_ChIP-Seq_MESCs_Mouse1.85105356
52GABP_19822575_ChIP-Seq_HepG2_Human1.83935677
53YY1_21170310_ChIP-Seq_MESCs_Mouse1.82720826
54ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.78225294
55VDR_23849224_ChIP-Seq_CD4+_Human1.76225077
56YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.71715490
57TOP2B_26459242_ChIP-Seq_MCF-7_Human1.70470990
58SMAD4_21799915_ChIP-Seq_A2780_Human1.68845733
59PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.66258073
60NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.65576519
61KDM5A_27292631_Chip-Seq_BREAST_Human1.63340800
62ZFP57_27257070_Chip-Seq_ESCs_Mouse1.62347676
63CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.62117278
64HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.61313361
65TAF15_26573619_Chip-Seq_HEK293_Human1.61300100
66FUS_26573619_Chip-Seq_HEK293_Human1.60863531
67POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.59308348
68EZH2_22144423_ChIP-Seq_EOC_Human1.59193299
69NANOG_21062744_ChIP-ChIP_HESCs_Human1.59108100
70TTF2_22483619_ChIP-Seq_HELA_Human1.59049569
71POU3F2_20337985_ChIP-ChIP_501MEL_Human1.58409530
72SOX2_18555785_ChIP-Seq_MESCs_Mouse1.57870391
73DCP1A_22483619_ChIP-Seq_HELA_Human1.56769130
74ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.56294385
75HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.55900684
76PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.55409954
77BCAT_22108803_ChIP-Seq_LS180_Human1.51125247
78SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.49743552
79ZFX_18555785_ChIP-Seq_MESCs_Mouse1.48923249
80FOXP3_21729870_ChIP-Seq_TREG_Human1.48804842
81AHR_22903824_ChIP-Seq_MCF-7_Human1.48418904
82TP63_19390658_ChIP-ChIP_HaCaT_Human1.47968454
83SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.47664248
84CIITA_25753668_ChIP-Seq_RAJI_Human1.47644587
85BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.47619335
86SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.45857380
87EWS_26573619_Chip-Seq_HEK293_Human1.45799125
88EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.45288936
89NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.43880016
90CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.43615657
91TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.43185256
92E2F1_21310950_ChIP-Seq_MCF-7_Human1.43036939
93* CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.43036314
94ARNT_22903824_ChIP-Seq_MCF-7_Human1.42318403
95FOXM1_26456572_ChIP-Seq_MCF-7_Human1.41855271
96PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.41656135
97ER_23166858_ChIP-Seq_MCF-7_Human1.41627681
98SMAD3_21741376_ChIP-Seq_EPCs_Human1.41211156
99STAT3_23295773_ChIP-Seq_U87_Human1.40647484
100IGF1R_20145208_ChIP-Seq_DFB_Human1.40153092
101KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.40034620
102TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.39263951
103CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.39045031
104ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.38841424
105P300_19829295_ChIP-Seq_ESCs_Human1.38666468
106TCF3_18692474_ChIP-Seq_MEFs_Mouse1.36528554
107ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.35959318
108TP53_18474530_ChIP-ChIP_U2OS_Human1.35959141
109KLF4_18555785_ChIP-Seq_MESCs_Mouse1.34360893
110STAT3_1855785_ChIP-Seq_MESCs_Mouse1.33842016
111MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.33626190
112TCF4_22108803_ChIP-Seq_LS180_Human1.33561299
113AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.33224056
114CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.32479713
115TCF3_18692474_ChIP-Seq_MESCs_Mouse1.32224450
116CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.31366256
117EZH2_27294783_Chip-Seq_ESCs_Mouse1.30180912
118CBP_20019798_ChIP-Seq_JUKART_Human1.27930597
119IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.27930597
120AR_21572438_ChIP-Seq_LNCaP_Human1.27663650
121SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.27549174
122PADI4_21655091_ChIP-ChIP_MCF-7_Human1.27377820
123MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.26605596
124TCF4_23295773_ChIP-Seq_U87_Human1.25636179
125POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.24494085
126TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.24494085
127PHF8_20622853_ChIP-Seq_HELA_Human1.24354073
128ETV1_20927104_ChIP-Seq_GIST48_Human1.24303481
129ZNF263_19887448_ChIP-Seq_K562_Human1.23924149
130CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.23367276
131REST_21632747_ChIP-Seq_MESCs_Mouse1.20669250
132FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.19976275
133FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.19665310
134RUNX2_22187159_ChIP-Seq_PCA_Human1.19518749
135BMI1_23680149_ChIP-Seq_NPCS_Mouse1.18874314
136CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.18306508
137TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.18235055
138SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.17819753
139SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.17655491
140AR_25329375_ChIP-Seq_VCAP_Human1.16961177
141CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.16504499
142NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.16183164
143PCGF4_22325352_ChIP-Seq_293T-Rex_Human1.15587797
144SMAD4_21741376_ChIP-Seq_EPCs_Human1.15508810
145TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.15069656
146FOXA1_27270436_Chip-Seq_PROSTATE_Human1.14516204
147FOXA1_25329375_ChIP-Seq_VCAP_Human1.14516204
148TBL1_22424771_ChIP-Seq_293T_Human1.14226784
149DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.13896200
150KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.13787248
151ESR1_20079471_ChIP-ChIP_T-47D_Human1.13507078
152RNF2_27304074_Chip-Seq_NSC_Mouse1.13307586
153TDRD3_21172665_ChIP-Seq_MCF-7_Human1.12487358
154NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.11986130
155GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.09833662
156TFEB_21752829_ChIP-Seq_HELA_Human1.09002813
157ELF1_17652178_ChIP-ChIP_JURKAT_Human1.08925338
158NFYB_21822215_ChIP-Seq_K562_Human1.08583010
159TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse1.08213354
160SOX2_18692474_ChIP-Seq_MESCs_Mouse1.07752473
161ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.07713564
162KAP1_27257070_Chip-Seq_ESCs_Mouse1.07708925
163KLF5_20875108_ChIP-Seq_MESCs_Mouse1.07372335
164HNFA_21074721_ChIP-Seq_CACO-2_Human1.07369855
165SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.07296873
166POU5F1_16518401_ChIP-PET_MESCs_Mouse1.05614189
167PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.05576349
168TP53_16413492_ChIP-PET_HCT116_Human1.05563690
169TP63_23658742_ChIP-Seq_EP156T_Human1.05562119
170NCOR_22424771_ChIP-Seq_293T_Human1.05480780
171FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.05423594
172SOX2_18692474_ChIP-Seq_MEFs_Mouse1.05420942
173AR_20517297_ChIP-Seq_VCAP_Human1.05213627
174POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.05053545
175CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.04791097
176NFYA_21822215_ChIP-Seq_K562_Human1.04746233
177SRF_21415370_ChIP-Seq_HL-1_Mouse1.04326126
178SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.04067963
179AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.03354717
180ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.02607446
181CBX2_27304074_Chip-Seq_ESCs_Mouse1.02224179
182RBPJ_21746931_ChIP-Seq_IB4_Human1.01898954
183FOXA1_25552417_ChIP-Seq_VCAP_Human1.01715767
184ELK1_19687146_ChIP-ChIP_HELA_Human1.00890582
185BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.00047308
186CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.99073122
187CBX2_22325352_ChIP-Seq_293T-Rex_Human0.97823845
188STAT1_20625510_ChIP-Seq_HELA_Human0.96816582
189GATA1_26923725_Chip-Seq_HPCs_Mouse0.96569213
190E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.96439974
191GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.96401905
192STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.95894182
193CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.95745653
194NANOG_16518401_ChIP-PET_MESCs_Mouse0.94373378
195UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.93993627
196NANOG_19829295_ChIP-Seq_ESCs_Human0.93970412
197SOX2_19829295_ChIP-Seq_ESCs_Human0.93970412

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008875_abnormal_xenobiotic_pharmacok4.73427476
2MP0003693_abnormal_embryo_hatching4.71010775
3MP0001984_abnormal_olfaction3.92929314
4MP0004957_abnormal_blastocyst_morpholog3.64962894
5MP0003111_abnormal_nucleus_morphology3.35835648
6MP0000566_synostosis3.24532931
7MP0010094_abnormal_chromosome_stability2.92131925
8MP0003283_abnormal_digestive_organ2.89288857
9MP0002653_abnormal_ependyma_morphology2.81850129
10MP0009780_abnormal_chondrocyte_physiolo2.68356068
11MP0003077_abnormal_cell_cycle2.67298974
12MP0002132_abnormal_respiratory_system2.65066524
13MP0003123_paternal_imprinting2.51237046
14MP0008057_abnormal_DNA_replication2.43241626
15MP0003136_yellow_coat_color2.37051447
16MP0008877_abnormal_DNA_methylation2.27944304
17MP0005623_abnormal_meninges_morphology2.27079111
18MP0010030_abnormal_orbit_morphology2.26192266
19MP0002277_abnormal_respiratory_mucosa2.24128242
20MP0008058_abnormal_DNA_repair2.24081911
21MP0003718_maternal_effect2.16380302
22MP0008932_abnormal_embryonic_tissue2.08578005
23MP0001730_embryonic_growth_arrest2.01608803
24MP0002282_abnormal_trachea_morphology1.98526474
25MP0004133_heterotaxia1.95609408
26MP0000678_abnormal_parathyroid_gland1.91003477
27MP0000383_abnormal_hair_follicle1.90699068
28MP0001188_hyperpigmentation1.83560953
29MP0000350_abnormal_cell_proliferation1.78379862
30MP0003880_abnormal_central_pattern1.71978334
31MP0005551_abnormal_eye_electrophysiolog1.69550696
32MP0008007_abnormal_cellular_replicative1.69131906
33MP0003786_premature_aging1.67209158
34MP0002084_abnormal_developmental_patter1.66919447
35MP0002085_abnormal_embryonic_tissue1.66156294
36MP0005253_abnormal_eye_physiology1.64960923
37MP0009046_muscle_twitch1.62967668
38MP0003315_abnormal_perineum_morphology1.59045757
39MP0005380_embryogenesis_phenotype1.58161051
40MP0001672_abnormal_embryogenesis/_devel1.58161051
41MP0001697_abnormal_embryo_size1.57004999
42MP0003119_abnormal_digestive_system1.56740134
43MP0006292_abnormal_olfactory_placode1.54626734
44MP0002734_abnormal_mechanical_nocicepti1.53587210
45MP0002160_abnormal_reproductive_system1.49706528
46MP0002210_abnormal_sex_determination1.48783656
47MP0002233_abnormal_nose_morphology1.48532137
48MP0001485_abnormal_pinna_reflex1.48200768
49MP0003121_genomic_imprinting1.46188783
50MP0002735_abnormal_chemical_nociception1.43575990
51MP0006072_abnormal_retinal_apoptosis1.43123325
52MP0010352_gastrointestinal_tract_polyps1.42657865
53MP0004019_abnormal_vitamin_homeostasis1.41841174
54MP0004043_abnormal_pH_regulation1.41241951
55MP0002102_abnormal_ear_morphology1.38189898
56MP0003806_abnormal_nucleotide_metabolis1.36485034
57MP0003984_embryonic_growth_retardation1.34727556
58MP0002080_prenatal_lethality1.34505709
59MP0001929_abnormal_gametogenesis1.33831390
60MP0000026_abnormal_inner_ear1.33775343
61MP0008789_abnormal_olfactory_epithelium1.33565467
62MP0010678_abnormal_skin_adnexa1.33296553
63MP0001529_abnormal_vocalization1.32125571
64MP0002088_abnormal_embryonic_growth/wei1.31558750
65MP0005646_abnormal_pituitary_gland1.30179577
66MP0000631_abnormal_neuroendocrine_gland1.26932488
67MP0005499_abnormal_olfactory_system1.26638429
68MP0005394_taste/olfaction_phenotype1.26638429
69MP0008260_abnormal_autophagy1.26554120
70MP0002876_abnormal_thyroid_physiology1.25786243
71MP0005377_hearing/vestibular/ear_phenot1.25626576
72MP0003878_abnormal_ear_physiology1.25626576
73MP0001486_abnormal_startle_reflex1.24369954
74MP0001145_abnormal_male_reproductive1.24001955
75MP0006276_abnormal_autonomic_nervous1.22214086
76MP0004233_abnormal_muscle_weight1.20985969
77MP0005389_reproductive_system_phenotype1.20203998
78MP0005248_abnormal_Harderian_gland1.19562030
79MP0001346_abnormal_lacrimal_gland1.18162828
80MP0009379_abnormal_foot_pigmentation1.18013475
81MP0003890_abnormal_embryonic-extraembry1.16734931
82MP0004264_abnormal_extraembryonic_tissu1.16497250
83MP0003937_abnormal_limbs/digits/tail_de1.14551593
84MP0000049_abnormal_middle_ear1.14081712
85MP0009745_abnormal_behavioral_response1.13223400
86MP0002086_abnormal_extraembryonic_tissu1.12875128
87MP0002736_abnormal_nociception_after1.12367399
88MP0001968_abnormal_touch/_nociception1.10003458
89MP0001919_abnormal_reproductive_system1.09652420
90MP0000428_abnormal_craniofacial_morphol1.09186598
91MP0002168_other_aberrant_phenotype1.08988106
92MP0000653_abnormal_sex_gland1.08387883
93MP0003938_abnormal_ear_development1.06818960
94MP0000778_abnormal_nervous_system1.05834190
95MP0001502_abnormal_circadian_rhythm1.05824130
96MP0008872_abnormal_physiological_respon1.03960449
97MP0001970_abnormal_pain_threshold1.03035299
98MP0003755_abnormal_palate_morphology1.02434774
99MP0002877_abnormal_melanocyte_morpholog1.01310949
100MP0003942_abnormal_urinary_system1.00950617
101MP0000955_abnormal_spinal_cord1.00853462
102MP0002557_abnormal_social/conspecific_i1.00527453
103MP0001324_abnormal_eye_pigmentation1.00522682
104MP0002249_abnormal_larynx_morphology1.00378345
105MP0002234_abnormal_pharynx_morphology0.99539631
106MP0005195_abnormal_posterior_eye0.99004957
107MP0000537_abnormal_urethra_morphology0.98566963
108MP0005391_vision/eye_phenotype0.98441080
109MP0002572_abnormal_emotion/affect_behav0.98129086
110MP0002163_abnormal_gland_morphology0.98124069
111MP0002272_abnormal_nervous_system0.97723622
112MP0004197_abnormal_fetal_growth/weight/0.97650935
113MP0003698_abnormal_male_reproductive0.97420484
114MP0005379_endocrine/exocrine_gland_phen0.96956346
115MP0001963_abnormal_hearing_physiology0.94213903
116MP0005395_other_phenotype0.94083170
117MP0001293_anophthalmia0.93821609
118MP0001849_ear_inflammation0.92230917
119MP0001765_abnormal_ion_homeostasis0.90295886
120MP0002752_abnormal_somatic_nervous0.89908566
121MP0000358_abnormal_cell_content/0.89367344
122MP0001944_abnormal_pancreas_morphology0.88342716
123MP0002751_abnormal_autonomic_nervous0.87548032
124MP0010386_abnormal_urinary_bladder0.87483938
125MP0005076_abnormal_cell_differentiation0.87075532
126MP0002909_abnormal_adrenal_gland0.86969512
127MP0009703_decreased_birth_body0.86907499
128MP0000534_abnormal_ureter_morphology0.86044969
129MP0006035_abnormal_mitochondrial_morpho0.86026803
130MP0000313_abnormal_cell_death0.85795689
131MP0002638_abnormal_pupillary_reflex0.85715638
132MP0003861_abnormal_nervous_system0.85450780
133MP0000516_abnormal_urinary_system0.85415940
134MP0005367_renal/urinary_system_phenotyp0.85415940
135MP0003011_delayed_dark_adaptation0.85247797
136MP0004142_abnormal_muscle_tone0.84700318
137MP0003122_maternal_imprinting0.84370128
138MP0003941_abnormal_skin_development0.81245941
139MP0004885_abnormal_endolymph0.81107198
140MP0003567_abnormal_fetal_cardiomyocyte0.79710089
141MP0002928_abnormal_bile_duct0.79583531
142MP0002161_abnormal_fertility/fecundity0.79466903
143MP0002882_abnormal_neuron_morphology0.78773657
144MP0001270_distended_abdomen0.78174534
145MP0003787_abnormal_imprinting0.76535115
146MP0002116_abnormal_craniofacial_bone0.75407460
147MP0002229_neurodegeneration0.74883178
148MP0009672_abnormal_birth_weight0.74618176
149MP0002938_white_spotting0.74562444
150MP0005083_abnormal_biliary_tract0.74286454
151MP0010307_abnormal_tumor_latency0.73968122
152MP0004147_increased_porphyrin_level0.73619443
153MP0002064_seizures0.73298995
154MP0000427_abnormal_hair_cycle0.73063253
155MP0002152_abnormal_brain_morphology0.73000064
156MP0002111_abnormal_tail_morphology0.72278125
157MP0001119_abnormal_female_reproductive0.72117392
158MP0001756_abnormal_urination0.71204790
159MP0003935_abnormal_craniofacial_develop0.71164399
160MP0000432_abnormal_head_morphology0.70859140
161MP0002063_abnormal_learning/memory/cond0.69986328
162MP0002067_abnormal_sensory_capabilities0.69413470
163MP0005636_abnormal_mineral_homeostasis0.69204946
164MP0003635_abnormal_synaptic_transmissio0.65495030
165MP0005423_abnormal_somatic_nervous0.65192132
166MP0004742_abnormal_vestibular_system0.64280707
167MP0008995_early_reproductive_senescence0.63833906
168MP0002184_abnormal_innervation0.63799730

Predicted human phenotypes

RankGene SetZ-score
1Rhinitis (HP:0012384)9.42402101
2Bronchiectasis (HP:0002110)6.70323721
3Nasal polyposis (HP:0100582)5.72091042
4Abnormality of the nasal mucosa (HP:0000433)4.64830830
5Infertility (HP:0000789)3.88311312
6Recurrent sinusitis (HP:0011108)3.74224171
7Chronic sinusitis (HP:0011109)3.70168812
8Bronchitis (HP:0012387)3.68014822
9Nephronophthisis (HP:0000090)3.59577601
10Carpal bone hypoplasia (HP:0001498)3.55890775
11* True hermaphroditism (HP:0010459)3.49327810
12Breast hypoplasia (HP:0003187)3.31028154
13Impulsivity (HP:0100710)3.30674423
14Abnormality of the labia minora (HP:0012880)3.24714385
15Recurrent otitis media (HP:0000403)3.18094718
16Chronic hepatic failure (HP:0100626)3.17732995
17Degeneration of anterior horn cells (HP:0002398)3.11964863
18Abnormality of the anterior horn cell (HP:0006802)3.11964863
19Birth length less than 3rd percentile (HP:0003561)3.08958182
20Patellar aplasia (HP:0006443)2.98091631
21* Abnormality of midbrain morphology (HP:0002418)2.97067264
22* Molar tooth sign on MRI (HP:0002419)2.97067264
23* Occipital encephalocele (HP:0002085)2.96649148
24Aplasia/Hypoplasia of the patella (HP:0006498)2.86772580
25* Cystic liver disease (HP:0006706)2.85315488
26Ependymoma (HP:0002888)2.84049620
27Rough bone trabeculation (HP:0100670)2.83951845
28Abnormality of the renal medulla (HP:0100957)2.83869383
29Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.82164226
30Shawl scrotum (HP:0000049)2.81518562
31Hyperactive renin-angiotensin system (HP:0000841)2.79765646
32Meckel diverticulum (HP:0002245)2.71142340
33Chronic otitis media (HP:0000389)2.67815049
34Atelectasis (HP:0100750)2.67131308
35Missing ribs (HP:0000921)2.59840338
36Abnormality of the ileum (HP:0001549)2.59824037
37Aplasia/hypoplasia of the humerus (HP:0006507)2.59362216
38* Postaxial foot polydactyly (HP:0001830)2.59358898
39Aplasia/Hypoplasia of the uvula (HP:0010293)2.56284432
40Absent radius (HP:0003974)2.52193234
41Cerebral hypomyelination (HP:0006808)2.49762844
4211 pairs of ribs (HP:0000878)2.46245736
43Congenital primary aphakia (HP:0007707)2.43617722
44Aplasia involving forearm bones (HP:0009822)2.40988194
45Absent forearm bone (HP:0003953)2.40988194
46Tubulointerstitial nephritis (HP:0001970)2.39825448
47Nephrogenic diabetes insipidus (HP:0009806)2.39271401
48Facial cleft (HP:0002006)2.39229087
49Abnormality of the preputium (HP:0100587)2.34928371
50Stenosis of the external auditory canal (HP:0000402)2.34255319
51Gait imbalance (HP:0002141)2.32423310
52Aplasia/hypoplasia of the uterus (HP:0008684)2.29526817
53Facial hemangioma (HP:0000329)2.25184864
54Short humerus (HP:0005792)2.24575447
55Tubular atrophy (HP:0000092)2.23585664
56Male infertility (HP:0003251)2.19055444
57Chronic bronchitis (HP:0004469)2.18152589
58Split foot (HP:0001839)2.16993045
59Hyperglycinemia (HP:0002154)2.15951296
60Medial flaring of the eyebrow (HP:0010747)2.15636653
61Anal stenosis (HP:0002025)2.14648709
62Glioma (HP:0009733)2.14521860
63Abnormality of chromosome stability (HP:0003220)2.13616194
64Medulloblastoma (HP:0002885)2.12375379
65* Congenital hepatic fibrosis (HP:0002612)2.12238670
66Small intestinal stenosis (HP:0012848)2.11698344
67Duodenal stenosis (HP:0100867)2.11698344
68Abnormal trabecular bone morphology (HP:0100671)2.10898952
69Median cleft lip (HP:0000161)2.10185571
70Poor coordination (HP:0002370)2.09561250
71Ureteral duplication (HP:0000073)2.06721700
72Spinal muscular atrophy (HP:0007269)2.06364715
73* Anencephaly (HP:0002323)2.03991914
74* Postaxial hand polydactyly (HP:0001162)2.03971505
75Oligodactyly (hands) (HP:0001180)2.02855992
76CNS hypomyelination (HP:0003429)2.02261872
77Supernumerary spleens (HP:0009799)2.01764001
78Secondary amenorrhea (HP:0000869)2.00859520
79Abnormal respiratory motile cilium morphology (HP:0005938)10.5622735
80Abnormal respiratory epithelium morphology (HP:0012253)10.5622735
81Abnormal respiratory motile cilium physiology (HP:0012261)10.4178939
82Abnormal ciliary motility (HP:0012262)10.2684604
83Absent/shortened dynein arms (HP:0200106)10.1673920
84Dynein arm defect of respiratory motile cilia (HP:0012255)10.1673920
85* Aplasia/Hypoplasia of the tongue (HP:0010295)1.98906785
86Oligodactyly (HP:0012165)1.98521865
87Metaphyseal cupping (HP:0003021)1.98350244
88Aplasia/Hypoplasia of the spleen (HP:0010451)1.98079483
89Rhabdomyosarcoma (HP:0002859)1.95079115
90Abnormality of the labia (HP:0000058)1.94584159
91* Pancreatic fibrosis (HP:0100732)1.93650634
92Asplenia (HP:0001746)1.93277233
93Breast aplasia (HP:0100783)1.93228778
94Dysautonomia (HP:0002459)1.92948436
95Horseshoe kidney (HP:0000085)1.92222410
96Astrocytoma (HP:0009592)1.91005007
97Abnormality of the astrocytes (HP:0100707)1.91005007
98Tongue fasciculations (HP:0001308)1.90967445
99Atrophy/Degeneration involving motor neurons (HP:0007373)1.89321910
100Hypoplasia of the radius (HP:0002984)1.89310310
101Neoplasm of the oral cavity (HP:0100649)1.88435788
102* Sclerocornea (HP:0000647)1.88159326
103Bell-shaped thorax (HP:0001591)1.87264307
104* Male pseudohermaphroditism (HP:0000037)1.86946361
105Decreased circulating renin level (HP:0003351)1.85891222
106Renal salt wasting (HP:0000127)1.85793347
107Decreased testicular size (HP:0008734)1.85226702
108Abnormality of the umbilical cord (HP:0010881)1.83419330
109Selective tooth agenesis (HP:0001592)1.82929616
110Abnormality of the duodenum (HP:0002246)1.82311289
111Oral leukoplakia (HP:0002745)1.81470762
112Unilateral renal agenesis (HP:0000122)1.80912418
113* Pancreatic cysts (HP:0001737)1.80088741
114Absent thumb (HP:0009777)1.76049166
115Aplasia/Hypoplasia of the breasts (HP:0010311)1.75774240
116Abnormal biliary tract physiology (HP:0012439)1.75135638
117Bile duct proliferation (HP:0001408)1.75135638
118Aplasia/Hypoplasia involving the musculature (HP:0001460)1.73660286
119Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.72856268
120Abnormality of the carotid arteries (HP:0005344)1.72286113
121Muscle fibrillation (HP:0010546)1.71789464
122* Sloping forehead (HP:0000340)1.70128132
123Hyperaldosteronism (HP:0000859)1.69294316
124Premature ovarian failure (HP:0008209)1.69066614
125Trismus (HP:0000211)1.68718882
126Neoplasm of the pancreas (HP:0002894)1.66063680
127Bifid tongue (HP:0010297)1.65103771
128* Oculomotor apraxia (HP:0000657)1.64563709
129Broad foot (HP:0001769)1.64297025
130Sex reversal (HP:0012245)1.64097097
131Abnormal sex determination (HP:0012244)1.64097097
132Abnormal drinking behavior (HP:0030082)1.62623097
133Polydipsia (HP:0001959)1.62623097
134Type I transferrin isoform profile (HP:0003642)1.62318252
135Vaginal atresia (HP:0000148)1.62294757
136* Preaxial hand polydactyly (HP:0001177)1.62019554
137Restlessness (HP:0000711)1.61798497
138Atresia of the external auditory canal (HP:0000413)1.61708357
139Colon cancer (HP:0003003)1.61534726
140Choanal atresia (HP:0000453)1.60308427
141Hyperglycemia (HP:0003074)1.59912443
142Bone marrow hypocellularity (HP:0005528)1.59382362
143Genital tract atresia (HP:0001827)1.58961015
144Hypoplasia of the capital femoral epiphysis (HP:0003090)1.58850237
145Unsteady gait (HP:0002317)1.58555495
146Decreased central vision (HP:0007663)1.58489175
147Hypoplastic labia majora (HP:0000059)1.58116327
148Gout (HP:0001997)1.57782260
149Tubulointerstitial abnormality (HP:0001969)1.57153443
150Abnormality of renin-angiotensin system (HP:0000847)1.56759055
151Hypokalemic alkalosis (HP:0001949)1.50861984
152* Furrowed tongue (HP:0000221)1.50197089
153Absent frontal sinuses (HP:0002688)1.50003990
154Abnormality of the renal cortex (HP:0011035)1.49717982
155* Nephropathy (HP:0000112)1.41300676
156Retinitis pigmentosa (HP:0000510)1.39745433
157Aplasia/Hypoplasia of the lens (HP:0008063)1.39362885
158Stage 5 chronic kidney disease (HP:0003774)1.37807151
159Absent rod-and cone-mediated responses on ERG (HP:0007688)1.37667654
160Recurrent bronchitis (HP:0002837)1.34087430
161Renal dysplasia (HP:0000110)1.32912600
162Polyuria (HP:0000103)1.31875849
163Abnormal rod and cone electroretinograms (HP:0008323)1.30829420
164Abnormality of chloride homeostasis (HP:0011422)1.27858735
165Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.25863666
166Abnormality of macular pigmentation (HP:0008002)1.24314538
167Specific learning disability (HP:0001328)1.22584435
168Short thorax (HP:0010306)1.21888883
169Hyperkalemia (HP:0002153)1.20713543
170* Aganglionic megacolon (HP:0002251)1.20678282
171* Prominent nasal bridge (HP:0000426)1.18722197
172Bifid scrotum (HP:0000048)1.17765839
173Tubulointerstitial fibrosis (HP:0005576)1.17620889
174Type II lissencephaly (HP:0007260)1.15774103
175* Multicystic kidney dysplasia (HP:0000003)1.15195617
176* Narrow forehead (HP:0000341)1.14572891
177Abnormality of the dental root (HP:0006486)1.13481370
178Taurodontia (HP:0000679)1.13481370
179Abnormality of permanent molar morphology (HP:0011071)1.13481370
180Anophthalmia (HP:0000528)1.12557998
181Cone-rod dystrophy (HP:0000548)1.11532556
182Abnormality of renal excretion (HP:0011036)1.10860343
183Abnormality of abdominal situs (HP:0011620)1.09722614
184Abdominal situs inversus (HP:0003363)1.09722614

Predicted kinase interactions (KEA)

RankGene SetZ-score
1WEE14.26991472
2AKT33.84309848
3BUB13.73296021
4MST43.71511428
5EPHA23.17703895
6CDC72.91108167
7NEK12.83265220
8TTK2.76780218
9STK38L2.67555296
10PRKD32.54216691
11NEK22.48166174
12FRK2.41896819
13PNCK2.38998745
14BRSK22.32659851
15SRPK12.21687517
16TSSK62.19365392
17PASK2.17300801
18PLK11.97980189
19EIF2AK11.96172968
20PLK41.95707040
21BRAF1.94031392
22BCR1.82295170
23LATS21.81283625
24CASK1.79938125
25BMPR1B1.75938998
26MAP3K41.73898494
27CHEK21.70109781
28PLK31.69478408
29PDK41.67341634
30PDK31.67341634
31BRSK11.64263596
32PTK2B1.51214773
33MAP4K21.47193925
34AURKA1.46380604
35EIF2AK31.41058758
36DYRK31.32322428
37MAP2K71.32293781
38STK161.31230979
39MAPK131.30947580
40ADRBK21.27065802
41INSRR1.24456785
42GRK11.24413887
43PRKCI1.23052192
44EPHA41.22779542
45STK381.22103066
46WNK31.18699647
47AURKB1.13551283
48CDK121.11772310
49CDK71.07513616
50PDK21.05131018
51ATR1.04964795
52CHEK11.04823567
53RPS6KB21.04063102
54TESK21.03787948
55ACVR1B0.99459628
56ARAF0.97892677
57STK240.96974853
58CCNB10.96933112
59BRD40.94769555
60CDK20.90623725
61MAP3K20.83027927
62VRK10.82040250
63STK390.81837247
64MAP3K70.80674232
65MAP3K90.78866733
66OXSR10.78199463
67TNIK0.77428180
68DYRK20.74376600
69ZAK0.71769893
70MKNK20.71458918
71ALK0.69590980
72MTOR0.67810374
73LATS10.67571993
74ATM0.67088294
75FGFR20.65278520
76CDK10.64207073
77CDK80.64035590
78MAPKAPK30.63988310
79MKNK10.63931286
80MUSK0.63485052
81ADRBK10.63472648
82PAK10.63283128
83CSNK1G20.63159759
84CDC42BPA0.62694963
85NTRK20.61906188
86WNK40.61796286
87IRAK10.60205215
88MELK0.59804740
89CSNK1E0.59692910
90NUAK10.59530880
91ERBB30.58978452
92TIE10.58206601
93NME10.55880577
94STK30.55082183
95TLK10.54441232
96KSR10.53859158
97PRKCE0.53617704
98PLK20.53295260
99EPHB10.52848204
100PRKAA10.52736949
101MAP2K40.52703111
102CSNK2A10.50016966
103RPS6KA40.49505068
104PRKCG0.49469373
105TGFBR10.49037922
106PAK30.48562910
107CDK30.47353203
108MAP3K80.47204082
109MAPK100.46117121
110CSNK2A20.45620994
111PRKCQ0.45525566
112CAMKK10.44819820
113CSNK1G10.44231628
114CAMKK20.43508968
115BCKDK0.43407213
116PHKG10.43300995
117PHKG20.43300995
118CAMK2A0.42909528
119CSNK1G30.42246097
120PRKACA0.41159017
121GSK3B0.40542004
122MAPKAPK50.39804721
123DYRK1A0.39605287
124PINK10.39581963
125PKN10.39521260
126NLK0.38477459
127NEK60.38469002
128MAPK140.38206317
129ROCK10.37784259
130CSNK1A1L0.37604957
131NTRK30.36645132
132EEF2K0.35745286
133PAK40.35152933
134DDR20.34804538
135PRKD20.34559731
136PRPF4B0.34093157
137LRRK20.33834414
138MET0.33738159
139CAMK2G0.33603929
140SGK20.32699517
141PBK0.32679737
142SGK10.32499751
143CDK40.32352517
144CSNK1A10.31393563
145PRKCA0.30849792
146SGK2230.30551216
147SGK4940.30551216
148MINK10.29372528
149EPHA30.29225392
150FER0.28888396
151MAPK150.28765036
152ERBB20.28430269
153TESK10.28384871
154MAPK90.28229232
155PRKDC0.28075361
156ROCK20.28044425
157MARK20.27439781
158MAP2K20.27124492
159MARK10.26893718

Predicted pathways (KEGG)

RankGene SetZ-score
1Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009804.08818554
2RNA polymerase_Homo sapiens_hsa030203.61259997
3Mismatch repair_Homo sapiens_hsa034303.52916935
4Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.49998985
5Chemical carcinogenesis_Homo sapiens_hsa052043.47288846
6Histidine metabolism_Homo sapiens_hsa003403.29339664
7Drug metabolism - cytochrome P450_Homo sapiens_hsa009823.24662804
8RNA transport_Homo sapiens_hsa030133.23471253
9DNA replication_Homo sapiens_hsa030303.12765652
10Proteasome_Homo sapiens_hsa030503.08178785
11Homologous recombination_Homo sapiens_hsa034403.03215636
12Phenylalanine metabolism_Homo sapiens_hsa003602.94412714
13Cell cycle_Homo sapiens_hsa041102.66969840
14beta-Alanine metabolism_Homo sapiens_hsa004102.63075317
15Vitamin B6 metabolism_Homo sapiens_hsa007502.61218897
16Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.56508514
17Tyrosine metabolism_Homo sapiens_hsa003502.48367491
18Spliceosome_Homo sapiens_hsa030402.46473709
19Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.32331041
20Nucleotide excision repair_Homo sapiens_hsa034202.26364710
21Pyrimidine metabolism_Homo sapiens_hsa002402.25731572
22Fanconi anemia pathway_Homo sapiens_hsa034602.23028365
23Basal transcription factors_Homo sapiens_hsa030222.14656860
24Caffeine metabolism_Homo sapiens_hsa002322.10895194
25Glutathione metabolism_Homo sapiens_hsa004802.04996959
26Regulation of autophagy_Homo sapiens_hsa041401.99399203
27Base excision repair_Homo sapiens_hsa034101.98984824
28Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.98743762
29Maturity onset diabetes of the young_Homo sapiens_hsa049501.87324979
30Retinol metabolism_Homo sapiens_hsa008301.78372185
31Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.74920702
32Butanoate metabolism_Homo sapiens_hsa006501.73396069
33Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.69842668
34Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.69776171
35Oocyte meiosis_Homo sapiens_hsa041141.68386493
36mRNA surveillance pathway_Homo sapiens_hsa030151.67223619
37Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.57929151
38Purine metabolism_Homo sapiens_hsa002301.57114600
39Nitrogen metabolism_Homo sapiens_hsa009101.54716841
40RNA degradation_Homo sapiens_hsa030181.51534936
41Fructose and mannose metabolism_Homo sapiens_hsa000511.50151652
42Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.49824312
43One carbon pool by folate_Homo sapiens_hsa006701.43793152
44Peroxisome_Homo sapiens_hsa041461.37722433
45Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.35842258
46Protein export_Homo sapiens_hsa030601.35735255
47p53 signaling pathway_Homo sapiens_hsa041151.33240619
48Steroid hormone biosynthesis_Homo sapiens_hsa001401.32555418
49Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.32155899
50Folate biosynthesis_Homo sapiens_hsa007901.29899676
51ABC transporters_Homo sapiens_hsa020101.27490165
52Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.23223861
53Taste transduction_Homo sapiens_hsa047421.22462904
54Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.21150699
55Steroid biosynthesis_Homo sapiens_hsa001001.18946197
56Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.15241311
57Propanoate metabolism_Homo sapiens_hsa006401.13534243
58Hedgehog signaling pathway_Homo sapiens_hsa043401.11662434
59Oxidative phosphorylation_Homo sapiens_hsa001901.06581334
60Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.06258559
61Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.06061639
62Epstein-Barr virus infection_Homo sapiens_hsa051691.05833326
63Salivary secretion_Homo sapiens_hsa049701.04603833
64Fatty acid degradation_Homo sapiens_hsa000711.04150426
65Non-homologous end-joining_Homo sapiens_hsa034501.03928485
66Pentose phosphate pathway_Homo sapiens_hsa000301.03741947
67Circadian rhythm_Homo sapiens_hsa047101.03492263
68Cysteine and methionine metabolism_Homo sapiens_hsa002700.98113854
69Ribosome_Homo sapiens_hsa030100.97919692
70Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.97633439
71Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.96943385
72Tryptophan metabolism_Homo sapiens_hsa003800.95728692
73Primary bile acid biosynthesis_Homo sapiens_hsa001200.90049398
74Galactose metabolism_Homo sapiens_hsa000520.87809072
75Insulin secretion_Homo sapiens_hsa049110.84440746
76Hippo signaling pathway_Homo sapiens_hsa043900.84351941
77Synaptic vesicle cycle_Homo sapiens_hsa047210.84262367
78Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.84011938
79Ether lipid metabolism_Homo sapiens_hsa005650.81051660
80Cardiac muscle contraction_Homo sapiens_hsa042600.78866735
81Glycerophospholipid metabolism_Homo sapiens_hsa005640.78191182
82Phototransduction_Homo sapiens_hsa047440.76949560
83mTOR signaling pathway_Homo sapiens_hsa041500.76629429
84Biosynthesis of amino acids_Homo sapiens_hsa012300.76038757
85N-Glycan biosynthesis_Homo sapiens_hsa005100.75992627
86Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.74987411
87Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.74658299
88Drug metabolism - other enzymes_Homo sapiens_hsa009830.72254275
89Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.70934227
90Selenocompound metabolism_Homo sapiens_hsa004500.70795800
91Parkinsons disease_Homo sapiens_hsa050120.69245998
92Basal cell carcinoma_Homo sapiens_hsa052170.66299772
93Serotonergic synapse_Homo sapiens_hsa047260.63170622
942-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.61268940
95Vibrio cholerae infection_Homo sapiens_hsa051100.60348280
96Amphetamine addiction_Homo sapiens_hsa050310.59147000
97Glutamatergic synapse_Homo sapiens_hsa047240.57679604
98Circadian entrainment_Homo sapiens_hsa047130.57621686
99Huntingtons disease_Homo sapiens_hsa050160.56265696
100Tight junction_Homo sapiens_hsa045300.56164144
101Wnt signaling pathway_Homo sapiens_hsa043100.55770448
102Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.55697774
103Collecting duct acid secretion_Homo sapiens_hsa049660.55615536
104Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.53119203
105Pentose and glucuronate interconversions_Homo sapiens_hsa000400.52799916
106Alcoholism_Homo sapiens_hsa050340.52095084
107Alzheimers disease_Homo sapiens_hsa050100.51484226
108Thyroid cancer_Homo sapiens_hsa052160.51461665
109Thyroid hormone signaling pathway_Homo sapiens_hsa049190.50925752
110Axon guidance_Homo sapiens_hsa043600.49992962
111Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.49311222
112Calcium signaling pathway_Homo sapiens_hsa040200.48730963
113Carbohydrate digestion and absorption_Homo sapiens_hsa049730.48438149
114Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.48339460
115Pyruvate metabolism_Homo sapiens_hsa006200.46785062
116Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.46196704
117Viral carcinogenesis_Homo sapiens_hsa052030.44473467
118GABAergic synapse_Homo sapiens_hsa047270.44262381
119cAMP signaling pathway_Homo sapiens_hsa040240.43653518
120Glycerolipid metabolism_Homo sapiens_hsa005610.42894942
121Bladder cancer_Homo sapiens_hsa052190.41642041
122Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.41401845
123Morphine addiction_Homo sapiens_hsa050320.41252930
124Ovarian steroidogenesis_Homo sapiens_hsa049130.39085352
125Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.38507300
126Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.37636346
127HTLV-I infection_Homo sapiens_hsa051660.36746969
128Arginine and proline metabolism_Homo sapiens_hsa003300.36200909
129Carbon metabolism_Homo sapiens_hsa012000.35644451
130Other glycan degradation_Homo sapiens_hsa005110.35304861
131Linoleic acid metabolism_Homo sapiens_hsa005910.35210322
132Longevity regulating pathway - mammal_Homo sapiens_hsa042110.34954188
133TGF-beta signaling pathway_Homo sapiens_hsa043500.34129758
134Adherens junction_Homo sapiens_hsa045200.32372305
135Starch and sucrose metabolism_Homo sapiens_hsa005000.31807469
136Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.31762704
137MicroRNAs in cancer_Homo sapiens_hsa052060.31634982
138Colorectal cancer_Homo sapiens_hsa052100.31128463
139Cocaine addiction_Homo sapiens_hsa050300.31128237
140Metabolic pathways_Homo sapiens_hsa011000.29919378
141Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.28619338
142Melanogenesis_Homo sapiens_hsa049160.27468254
143Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.27444304
144Gastric acid secretion_Homo sapiens_hsa049710.25727916
145Antigen processing and presentation_Homo sapiens_hsa046120.25677881
146Vitamin digestion and absorption_Homo sapiens_hsa049770.24799341
147Long-term potentiation_Homo sapiens_hsa047200.24163498
148Glucagon signaling pathway_Homo sapiens_hsa049220.23855076
149Endometrial cancer_Homo sapiens_hsa052130.23720841
150Sphingolipid metabolism_Homo sapiens_hsa006000.23358455
151AMPK signaling pathway_Homo sapiens_hsa041520.22538894
152Inositol phosphate metabolism_Homo sapiens_hsa005620.22025762
153Olfactory transduction_Homo sapiens_hsa047400.21464263
154Dopaminergic synapse_Homo sapiens_hsa047280.21408674
155Notch signaling pathway_Homo sapiens_hsa043300.19775588
156Arachidonic acid metabolism_Homo sapiens_hsa005900.18506152
157Nicotine addiction_Homo sapiens_hsa050330.17718678
158FoxO signaling pathway_Homo sapiens_hsa040680.17390458
159alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.17171579
160Insulin signaling pathway_Homo sapiens_hsa049100.16748974
161Lysosome_Homo sapiens_hsa041420.16545084
162Prostate cancer_Homo sapiens_hsa052150.16519256

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