CEP41

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 centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of somitogenesis (GO:0014807)7.88284176
2auditory receptor cell differentiation (GO:0042491)7.81082760
3pentose metabolic process (GO:0019321)7.78456232
4inner ear receptor cell differentiation (GO:0060113)5.53289126
5endocardial cushion morphogenesis (GO:0003203)5.28835188
6hair cell differentiation (GO:0035315)5.12819217
7pathway-restricted SMAD protein phosphorylation (GO:0060389)5.07150577
8behavioral response to nicotine (GO:0035095)5.04717577
9positive regulation of Notch signaling pathway (GO:0045747)4.41001148
10mesenchyme morphogenesis (GO:0072132)4.35393170
11pyrimidine nucleobase catabolic process (GO:0006208)4.26405144
12mechanoreceptor differentiation (GO:0042490)4.22638621
13epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)4.21135771
14Notch signaling involved in heart development (GO:0061314)4.20492772
15epithelial cilium movement (GO:0003351)4.09096076
16epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.96986381
17glycoprotein catabolic process (GO:0006516)3.90140616
18mitotic sister chromatid cohesion (GO:0007064)3.77541565
19nonmotile primary cilium assembly (GO:0035058)3.70691402
20water-soluble vitamin biosynthetic process (GO:0042364)3.64159098
21nucleobase catabolic process (GO:0046113)3.58574107
22protein localization to kinetochore (GO:0034501)3.57035302
23aorta morphogenesis (GO:0035909)3.54909613
24negative regulation of telomere maintenance (GO:0032205)3.51548872
25regulation of sister chromatid cohesion (GO:0007063)3.49825126
26cilium movement (GO:0003341)3.47896270
27regulation of cardioblast proliferation (GO:0003264)3.47160252
28regulation of secondary heart field cardioblast proliferation (GO:0003266)3.47160252
29regulation of cilium movement (GO:0003352)3.41161008
30mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.37754357
31mitochondrial respiratory chain complex I assembly (GO:0032981)3.37754357
32NADH dehydrogenase complex assembly (GO:0010257)3.37754357
33male meiosis (GO:0007140)3.36427214
34sensory perception of sound (GO:0007605)3.36135275
35DNA unwinding involved in DNA replication (GO:0006268)3.30952096
36cell proliferation in forebrain (GO:0021846)3.30812828
37protein complex biogenesis (GO:0070271)3.30397444
38presynaptic membrane assembly (GO:0097105)3.26904445
39sensory perception of mechanical stimulus (GO:0050954)3.26691297
40intraciliary transport (GO:0042073)3.25968396
41protein localization to chromosome, centromeric region (GO:0071459)3.25674701
42mitotic metaphase plate congression (GO:0007080)3.24992788
43regulation of histone H3-K27 methylation (GO:0061085)3.24873827
44axoneme assembly (GO:0035082)3.24683377
45somite development (GO:0061053)3.24614644
46type B pancreatic cell proliferation (GO:0044342)3.22372768
47DNA deamination (GO:0045006)3.22130787
48transmission of nerve impulse (GO:0019226)3.22127185
49cardiac right ventricle morphogenesis (GO:0003215)3.17456980
50negative regulation of retinoic acid receptor signaling pathway (GO:0048387)3.16349179
51retinal ganglion cell axon guidance (GO:0031290)3.15054295
52meiotic nuclear division (GO:0007126)3.14499844
53metaphase plate congression (GO:0051310)3.09958923
54positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)3.09498672
55presynaptic membrane organization (GO:0097090)3.08296675
56alternative mRNA splicing, via spliceosome (GO:0000380)3.03089928
57cilium morphogenesis (GO:0060271)3.02243359
58mitochondrial respiratory chain complex assembly (GO:0033108)3.01553314
59protein localization to cilium (GO:0061512)3.01472569
60axonemal dynein complex assembly (GO:0070286)3.01383828
61neuronal stem cell maintenance (GO:0097150)3.00570076
62* cilium organization (GO:0044782)2.99016011
63centriole replication (GO:0007099)2.95217122
64* cilium assembly (GO:0042384)2.92318603
65kidney morphogenesis (GO:0060993)2.91946333
66regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.89876215
67lipopolysaccharide biosynthetic process (GO:0009103)2.89248896
68kinetochore organization (GO:0051383)2.88740812
69postsynaptic membrane organization (GO:0001941)2.87701963
70detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.87231679
71establishment of protein localization to mitochondrial membrane (GO:0090151)2.86543369
72neuron cell-cell adhesion (GO:0007158)2.84864067
73positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)2.84139314
74membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.83921180
75regulation of female gonad development (GO:2000194)2.83728693
76regulation of telomere maintenance (GO:0032204)2.82925999
77gamma-aminobutyric acid transport (GO:0015812)2.82867363
78response to pheromone (GO:0019236)2.81788201
79outer ear morphogenesis (GO:0042473)2.79910889
80regulation of microtubule-based movement (GO:0060632)2.78689528
81fucose catabolic process (GO:0019317)2.76891407
82L-fucose metabolic process (GO:0042354)2.76891407
83L-fucose catabolic process (GO:0042355)2.76891407
84negative regulation of transcription regulatory region DNA binding (GO:2000678)2.76522484
85microtubule depolymerization (GO:0007019)2.75552869
86activin receptor signaling pathway (GO:0032924)2.74825983
87cornea development in camera-type eye (GO:0061303)2.74726598
88heart valve morphogenesis (GO:0003179)2.73661832
89establishment of chromosome localization (GO:0051303)2.73645847
90platelet dense granule organization (GO:0060155)2.73549577
91ventricular trabecula myocardium morphogenesis (GO:0003222)2.73491010
92attachment of spindle microtubules to kinetochore (GO:0008608)2.73308094
93endocrine hormone secretion (GO:0060986)2.73088325
94sulfation (GO:0051923)2.72379152
95DNA replication-independent nucleosome assembly (GO:0006336)2.72028171
96DNA replication-independent nucleosome organization (GO:0034724)2.72028171
97cardiac ventricle morphogenesis (GO:0003208)2.71288368
98protein localization to chromosome (GO:0034502)2.69958964
99mitotic chromosome condensation (GO:0007076)2.69923598
100histone H2A acetylation (GO:0043968)2.69143097
101sister chromatid segregation (GO:0000819)2.69112159
102replication fork processing (GO:0031297)2.68464950
103vitamin catabolic process (GO:0009111)2.67289522
104fat-soluble vitamin catabolic process (GO:0042363)2.67289522
105limb bud formation (GO:0060174)2.66835412
106CENP-A containing nucleosome assembly (GO:0034080)2.66777932
107startle response (GO:0001964)2.66320047
108regulation of chromosome segregation (GO:0051983)2.65695156
109DNA replication initiation (GO:0006270)2.65454655
110neural tube formation (GO:0001841)2.64744272
111* protein polyglutamylation (GO:0018095)2.64018019
112binding of sperm to zona pellucida (GO:0007339)2.63617163
113G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.62085021
114regulation of retinoic acid receptor signaling pathway (GO:0048385)2.61695122
115DNA replication-dependent nucleosome organization (GO:0034723)2.61609706
116DNA replication-dependent nucleosome assembly (GO:0006335)2.61609706
117synaptic transmission, cholinergic (GO:0007271)2.60280315
118cardiac epithelial to mesenchymal transition (GO:0060317)2.59649688
119heart trabecula morphogenesis (GO:0061384)2.59368627
120regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.58871643
121histone exchange (GO:0043486)2.58382069
122cellular sodium ion homeostasis (GO:0006883)2.58223461
123mitotic sister chromatid segregation (GO:0000070)2.58044585
124indolalkylamine metabolic process (GO:0006586)2.57676281
125neuronal action potential (GO:0019228)2.57323834
126positive regulation of oligodendrocyte differentiation (GO:0048714)2.57152197
127chromatin remodeling at centromere (GO:0031055)2.57109977
128resolution of meiotic recombination intermediates (GO:0000712)2.56558424
129regulation of DNA endoreduplication (GO:0032875)2.55662842
130ATP-dependent chromatin remodeling (GO:0043044)2.54244766
131piRNA metabolic process (GO:0034587)2.54026857
132negative regulation of RNA splicing (GO:0033119)2.53773439
133heart valve formation (GO:0003188)2.53460617
134dendritic spine morphogenesis (GO:0060997)2.53230192
135negative regulation of mitotic sister chromatid separation (GO:2000816)2.53050457
136negative regulation of mitotic sister chromatid segregation (GO:0033048)2.53050457
137negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.53050457
138negative regulation of sister chromatid segregation (GO:0033046)2.53050457
139kinetochore assembly (GO:0051382)2.52481182
140cilium or flagellum-dependent cell motility (GO:0001539)2.52311181
141negative regulation of mRNA splicing, via spliceosome (GO:0048025)2.51853030
142cardiac chamber morphogenesis (GO:0003206)2.51630922
143behavioral response to ethanol (GO:0048149)2.51305945
144negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.51261753
145preassembly of GPI anchor in ER membrane (GO:0016254)2.50603826
146negative regulation of chromosome segregation (GO:0051985)2.50010188
147synapsis (GO:0007129)2.49921305
148galactose catabolic process (GO:0019388)2.49611444
149regulation of mesoderm development (GO:2000380)2.49512307
150spinal cord motor neuron differentiation (GO:0021522)2.49411416
151regulation of Notch signaling pathway (GO:0008593)2.48945627
152photoreceptor cell maintenance (GO:0045494)2.48601897
153negative regulation of androgen receptor signaling pathway (GO:0060766)2.48444392
154dopamine transport (GO:0015872)2.47940309
155male meiosis I (GO:0007141)2.47746041
156SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)2.47435253
157mitotic spindle assembly checkpoint (GO:0007094)2.46548982
158spinal cord development (GO:0021510)2.45521439
159G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.45486625
160negative regulation of response to food (GO:0032096)2.44955922
161negative regulation of appetite (GO:0032099)2.44955922
162dorsal/ventral axis specification (GO:0009950)2.44848725
163cell surface receptor signaling pathway involved in heart development (GO:0061311)2.44826413
164protein complex localization (GO:0031503)2.44283795
165detection of light stimulus involved in visual perception (GO:0050908)2.44233563
166detection of light stimulus involved in sensory perception (GO:0050962)2.44233563
167RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.44076178
168tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.44076178
169regulation of heart morphogenesis (GO:2000826)2.43995979
170monoubiquitinated protein deubiquitination (GO:0035520)2.43857381
171nuclear pore organization (GO:0006999)2.43605282
172regulation of collateral sprouting (GO:0048670)2.43553693
173nuclear pore complex assembly (GO:0051292)2.43261603
174regulation of spindle organization (GO:0090224)2.42736899
175spindle assembly checkpoint (GO:0071173)2.42645135
176male genitalia development (GO:0030539)2.42557415
177ventricular septum morphogenesis (GO:0060412)2.42335243
178protein localization to synapse (GO:0035418)2.41524542
179respiratory chain complex IV assembly (GO:0008535)2.41396833
180mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.41017668
181negative regulation of synaptic transmission, GABAergic (GO:0032229)2.40317963
182retinal cone cell development (GO:0046549)2.40107389
183reflex (GO:0060004)2.39678337
184protein neddylation (GO:0045116)2.37791776
185DNA double-strand break processing (GO:0000729)2.35995932
186photoreceptor cell development (GO:0042461)2.35917892
187smoothened signaling pathway (GO:0007224)2.35215257
188adaptation of signaling pathway (GO:0023058)2.33173846
189regulation of neurotransmitter uptake (GO:0051580)2.31751634
190axonal fasciculation (GO:0007413)2.31294956
191regulation of rhodopsin mediated signaling pathway (GO:0022400)2.31261416
192synapse assembly (GO:0007416)2.31133049
193dentate gyrus development (GO:0021542)2.29419416
194determination of left/right symmetry (GO:0007368)2.28770198
195appendage development (GO:0048736)2.28144089
196limb development (GO:0060173)2.28144089
197nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.26288590

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human8.80507482
2TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat8.26688253
3FOXM1_23109430_ChIP-Seq_U2OS_Human4.86778891
4TRIM28_21343339_ChIP-Seq_HEK293_Human4.49835990
5E2F4_17652178_ChIP-ChIP_JURKAT_Human4.15296135
6EZH2_22144423_ChIP-Seq_EOC_Human4.06569500
7RBPJ_22232070_ChIP-Seq_NCS_Mouse3.97636204
8MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse3.80597193
9FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.74001726
10ZNF274_21170338_ChIP-Seq_K562_Hela3.22428146
11MYC_18555785_ChIP-Seq_MESCs_Mouse3.09841167
12GBX2_23144817_ChIP-Seq_PC3_Human3.06491464
13AR_21909140_ChIP-Seq_LNCAP_Human2.71773831
14ZFP57_27257070_Chip-Seq_ESCs_Mouse2.66620638
15VDR_22108803_ChIP-Seq_LS180_Human2.66431583
16IGF1R_20145208_ChIP-Seq_DFB_Human2.50424188
17GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.42185567
18CTBP2_25329375_ChIP-Seq_LNCAP_Human2.38249518
19TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.28692265
20POU3F2_20337985_ChIP-ChIP_501MEL_Human2.28079712
21GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.22870540
22NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.22861935
23MYC_19079543_ChIP-ChIP_MESCs_Mouse2.21112365
24TAF15_26573619_Chip-Seq_HEK293_Human2.20337706
25KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.20109129
26CTBP1_25329375_ChIP-Seq_LNCAP_Human2.12122000
27CBX2_27304074_Chip-Seq_ESCs_Mouse2.11042334
28EGR1_19374776_ChIP-ChIP_THP-1_Human2.10456957
29E2F1_21310950_ChIP-Seq_MCF-7_Human2.01832429
30P300_19829295_ChIP-Seq_ESCs_Human2.00315176
31BMI1_23680149_ChIP-Seq_NPCS_Mouse1.98991167
32MYC_19030024_ChIP-ChIP_MESCs_Mouse1.97552676
33HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.96776279
34EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.87588775
35XRN2_22483619_ChIP-Seq_HELA_Human1.86643863
36RNF2_27304074_Chip-Seq_NSC_Mouse1.86219956
37CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.85113978
38TP63_19390658_ChIP-ChIP_HaCaT_Human1.79780673
39EST1_17652178_ChIP-ChIP_JURKAT_Human1.78718611
40MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.78715136
41ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.74892515
42REST_21632747_ChIP-Seq_MESCs_Mouse1.67771088
43SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.67131757
44NELFA_20434984_ChIP-Seq_ESCs_Mouse1.66175572
45MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.63402154
46CIITA_25753668_ChIP-Seq_RAJI_Human1.62469530
47FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.61766830
48MYCN_18555785_ChIP-Seq_MESCs_Mouse1.61610065
49SMAD4_21799915_ChIP-Seq_A2780_Human1.59147384
50PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.58663985
51EZH2_27304074_Chip-Seq_ESCs_Mouse1.58630883
52FLI1_27457419_Chip-Seq_LIVER_Mouse1.57627357
53MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.56673427
54SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.56659419
55TP63_17297297_ChIP-ChIP_HaCaT_Human1.55477845
56POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.55106575
57TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.55106575
58ER_23166858_ChIP-Seq_MCF-7_Human1.54873048
59EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.54367529
60FUS_26573619_Chip-Seq_HEK293_Human1.53337530
61CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.52986039
62HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.51897666
63AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.49918182
64IRF1_19129219_ChIP-ChIP_H3396_Human1.49658429
65MYC_18358816_ChIP-ChIP_MESCs_Mouse1.49642518
66EED_16625203_ChIP-ChIP_MESCs_Mouse1.47777114
67CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.47151986
68TTF2_22483619_ChIP-Seq_HELA_Human1.46505969
69SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.46445415
70JARID2_20064375_ChIP-Seq_MESCs_Mouse1.46240927
71UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.45541458
72CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.44667601
73AR_25329375_ChIP-Seq_VCAP_Human1.43440625
74SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.43050969
75STAT3_23295773_ChIP-Seq_U87_Human1.42281098
76MYC_22102868_ChIP-Seq_BL_Human1.41813590
77ZFX_18555785_ChIP-Seq_MESCs_Mouse1.40388528
78MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.40123780
79SMAD3_21741376_ChIP-Seq_EPCs_Human1.36542174
80SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.35951680
81SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.34918120
82TOP2B_26459242_ChIP-Seq_MCF-7_Human1.34685232
83POU5F1_16153702_ChIP-ChIP_HESCs_Human1.34127741
84CBP_20019798_ChIP-Seq_JUKART_Human1.33713852
85IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.33713852
86PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.33056684
87PIAS1_25552417_ChIP-Seq_VCAP_Human1.32634232
88SOX2_18555785_ChIP-Seq_MESCs_Mouse1.32629343
89TP53_22573176_ChIP-Seq_HFKS_Human1.32570331
90NR3C1_21868756_ChIP-Seq_MCF10A_Human1.31430988
91TCF4_23295773_ChIP-Seq_U87_Human1.30907021
92POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.29859280
93SALL1_21062744_ChIP-ChIP_HESCs_Human1.28879968
94BCAT_22108803_ChIP-Seq_LS180_Human1.27655097
95PKCTHETA_26484144_Chip-Seq_BREAST_Human1.25863728
96OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.25551439
97YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.21645002
98REST_18959480_ChIP-ChIP_MESCs_Mouse1.21591869
99GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.21490015
100PCGF2_27294783_Chip-Seq_ESCs_Mouse1.21411164
101FOXP3_21729870_ChIP-Seq_TREG_Human1.20773012
102KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.19498964
103ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.18506250
104SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.18137445
105GABP_17652178_ChIP-ChIP_JURKAT_Human1.17276869
106RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.16927032
107KDM5A_27292631_Chip-Seq_BREAST_Human1.15577986
108GABP_19822575_ChIP-Seq_HepG2_Human1.15492938
109RUNX2_22187159_ChIP-Seq_PCA_Human1.14718558
110SOX2_19829295_ChIP-Seq_ESCs_Human1.13917979
111NANOG_19829295_ChIP-Seq_ESCs_Human1.13917979
112ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.12604148
113KLF5_20875108_ChIP-Seq_MESCs_Mouse1.11987998
114SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.11983071
115ELF1_17652178_ChIP-ChIP_JURKAT_Human1.11897751
116EZH2_27294783_Chip-Seq_ESCs_Mouse1.11089894
117CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.10884307
118TCF4_22108803_ChIP-Seq_LS180_Human1.10201782
119PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.09785440
120FOXA1_25329375_ChIP-Seq_VCAP_Human1.09286241
121FOXA1_27270436_Chip-Seq_PROSTATE_Human1.09286241
122KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.09265717
123CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09119479
124E2F1_18555785_ChIP-Seq_MESCs_Mouse1.07655426
125NANOG_18555785_Chip-Seq_ESCs_Mouse1.07370981
126RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.07319702
127TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.07074290
128FLI1_21867929_ChIP-Seq_TH2_Mouse1.06286400
129PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.06245348
130JUN_21703547_ChIP-Seq_K562_Human1.05833160
131JARID2_20075857_ChIP-Seq_MESCs_Mouse1.05165219
132VDR_23849224_ChIP-Seq_CD4+_Human1.03028806
133NCOR_22424771_ChIP-Seq_293T_Human1.02504501
134RNF2_27304074_Chip-Seq_ESCs_Mouse1.02216627
135SUZ12_27294783_Chip-Seq_NPCs_Mouse1.01558699
136PADI4_21655091_ChIP-ChIP_MCF-7_Human1.01419596
137EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.01120408
138TAL1_26923725_Chip-Seq_HPCs_Mouse1.00948956
139SMAD4_21741376_ChIP-Seq_EPCs_Human1.00915400
140EWS_26573619_Chip-Seq_HEK293_Human1.00697141
141TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.00461776
142P53_22387025_ChIP-Seq_ESCs_Mouse1.00185923
143EZH2_27294783_Chip-Seq_NPCs_Mouse1.00181024
144SUZ12_27294783_Chip-Seq_ESCs_Mouse0.99776795
145PRDM14_20953172_ChIP-Seq_ESCs_Human0.99592334
146ETS1_20019798_ChIP-Seq_JURKAT_Human0.97898559
147HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human0.97743333
148HOXB4_20404135_ChIP-ChIP_EML_Mouse0.97139067
149KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.97044519
150ELK1_19687146_ChIP-ChIP_HELA_Human0.95896523
151TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.95870282
152ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.95486394
153E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.93665652
154FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.91791961
155TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.91041977
156CREB1_15753290_ChIP-ChIP_HEK293T_Human0.89162114
157CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.88895496
158POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.88161003
159ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.86271062
160PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.83032134
161MYC_18940864_ChIP-ChIP_HL60_Human0.81061438
162SOX2_18358816_ChIP-ChIP_MESCs_Mouse0.80595984
163FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.79855949
164DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.78328529
165NANOG_21062744_ChIP-ChIP_HESCs_Human0.76535540
166FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.76337088
167KLF4_18555785_ChIP-Seq_MESCs_Mouse0.75740018
168CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.75239364
169JARID1A_20064375_ChIP-Seq_MESCs_Mouse0.73704966
170NANOG_18555785_ChIP-Seq_MESCs_Mouse0.73616257
171SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.72619331
172NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.70596178
173CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.70294843
174WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.69499096
175TCF7_22412390_ChIP-Seq_EML_Mouse0.69255286
176NANOG_16153702_ChIP-ChIP_HESCs_Human0.68742022
177CHD1_26751641_Chip-Seq_LNCaP_Human0.68325420
178SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.67102671
179TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.66907079
180POU5F1_16518401_ChIP-PET_MESCs_Mouse0.65580700
181SOX2_16153702_ChIP-ChIP_HESCs_Human0.64231971
182CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.63097733
183DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.62765067
184CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.62364991
185EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.61407743
186VDR_21846776_ChIP-Seq_THP-1_Human0.60998126

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005377_hearing/vestibular/ear_phenot6.67278554
2MP0003878_abnormal_ear_physiology6.67278554
3MP0003879_abnormal_hair_cell5.47272949
4MP0001485_abnormal_pinna_reflex5.33652724
5MP0001963_abnormal_hearing_physiology3.30207719
6MP0000026_abnormal_inner_ear3.27542065
7MP0002653_abnormal_ependyma_morphology2.96199879
8MP0006292_abnormal_olfactory_placode2.82353373
9MP0000049_abnormal_middle_ear2.37393364
10MP0003880_abnormal_central_pattern2.31019255
11MP0000566_synostosis2.29770074
12MP0003693_abnormal_embryo_hatching2.25696986
13MP0004133_heterotaxia2.10000768
14MP0006072_abnormal_retinal_apoptosis2.08863297
15MP0002932_abnormal_joint_morphology2.08657397
16MP0001968_abnormal_touch/_nociception2.06644382
17MP0005551_abnormal_eye_electrophysiolog2.06607308
18MP0009046_muscle_twitch2.03916128
19MP0005646_abnormal_pituitary_gland2.02351935
20MP0002837_dystrophic_cardiac_calcinosis2.02301826
21MP0010094_abnormal_chromosome_stability2.00411506
22MP0006276_abnormal_autonomic_nervous1.97311433
23MP0001529_abnormal_vocalization1.90319458
24MP0009745_abnormal_behavioral_response1.87563966
25MP0004142_abnormal_muscle_tone1.87151210
26MP0003077_abnormal_cell_cycle1.87147802
27MP0008877_abnormal_DNA_methylation1.85406965
28MP0000778_abnormal_nervous_system1.84134757
29MP0003111_abnormal_nucleus_morphology1.83600724
30MP0002102_abnormal_ear_morphology1.83410155
31MP0002736_abnormal_nociception_after1.78818007
32MP0002249_abnormal_larynx_morphology1.76932305
33MP0002272_abnormal_nervous_system1.76431486
34MP0008007_abnormal_cellular_replicative1.74506757
35MP0001486_abnormal_startle_reflex1.69186665
36MP0004957_abnormal_blastocyst_morpholog1.69088460
37MP0001984_abnormal_olfaction1.66679539
38MP0005508_abnormal_skeleton_morphology1.65578551
39MP0003941_abnormal_skin_development1.63697969
40MP0003942_abnormal_urinary_system1.63345575
41MP0005253_abnormal_eye_physiology1.58532722
42MP0002735_abnormal_chemical_nociception1.57897032
43MP0000569_abnormal_digit_pigmentation1.52115437
44MP0002638_abnormal_pupillary_reflex1.50299920
45MP0003122_maternal_imprinting1.48887683
46MP0002557_abnormal_social/conspecific_i1.47520479
47MP0003635_abnormal_synaptic_transmissio1.47293853
48MP0002734_abnormal_mechanical_nocicepti1.46609842
49MP0002064_seizures1.46576106
50MP0004742_abnormal_vestibular_system1.46140194
51MP0003121_genomic_imprinting1.44902251
52MP0002282_abnormal_trachea_morphology1.43906319
53MP0002572_abnormal_emotion/affect_behav1.43559201
54MP0003646_muscle_fatigue1.43139094
55MP0008872_abnormal_physiological_respon1.42809906
56MP0003136_yellow_coat_color1.42749808
57MP0010030_abnormal_orbit_morphology1.41831394
58MP0002160_abnormal_reproductive_system1.41793143
59MP0000372_irregular_coat_pigmentation1.41274188
60MP0003123_paternal_imprinting1.40525583
61MP0001286_abnormal_eye_development1.38087488
62MP0003283_abnormal_digestive_organ1.36272999
63MP0001905_abnormal_dopamine_level1.33243837
64MP0001970_abnormal_pain_threshold1.32098606
65MP0003890_abnormal_embryonic-extraembry1.31946705
66MP0002733_abnormal_thermal_nociception1.31536636
67MP0004264_abnormal_extraembryonic_tissu1.31201113
68MP0002063_abnormal_learning/memory/cond1.30819979
69MP0002938_white_spotting1.30558379
70MP0008932_abnormal_embryonic_tissue1.28730020
71MP0002234_abnormal_pharynx_morphology1.28502459
72MP0002876_abnormal_thyroid_physiology1.27596374
73MP0003115_abnormal_respiratory_system1.25378322
74MP0002210_abnormal_sex_determination1.25078367
75MP0000534_abnormal_ureter_morphology1.24867076
76MP0008057_abnormal_DNA_replication1.23864173
77MP0003938_abnormal_ear_development1.23306480
78MP0004147_increased_porphyrin_level1.23176372
79MP0002085_abnormal_embryonic_tissue1.22229164
80MP0001849_ear_inflammation1.22069884
81MP0005423_abnormal_somatic_nervous1.21750928
82MP0003195_calcinosis1.21666802
83MP0001929_abnormal_gametogenesis1.21424762
84MP0005499_abnormal_olfactory_system1.21140193
85MP0005394_taste/olfaction_phenotype1.21140193
86MP0001293_anophthalmia1.20796127
87MP0002067_abnormal_sensory_capabilities1.18796936
88MP0004270_analgesia1.18281932
89MP0005195_abnormal_posterior_eye1.17882932
90MP0002084_abnormal_developmental_patter1.17302708
91MP0005645_abnormal_hypothalamus_physiol1.16986460
92MP0004924_abnormal_behavior1.16527417
93MP0005386_behavior/neurological_phenoty1.16527417
94MP0004808_abnormal_hematopoietic_stem1.16363587
95MP0002163_abnormal_gland_morphology1.15899542
96MP0008058_abnormal_DNA_repair1.14771146
97MP0002184_abnormal_innervation1.13935036
98MP0004885_abnormal_endolymph1.13159686
99MP0001730_embryonic_growth_arrest1.12937991
100MP0005389_reproductive_system_phenotype1.12618348
101MP0003011_delayed_dark_adaptation1.12229788
102MP0002089_abnormal_postnatal_growth/wei1.12182600
103MP0002116_abnormal_craniofacial_bone1.12147952
104MP0004134_abnormal_chest_morphology1.11527308
105MP0004859_abnormal_synaptic_plasticity1.10881432
106MP0000955_abnormal_spinal_cord1.10175395
107MP0002928_abnormal_bile_duct1.09914802
108MP0005623_abnormal_meninges_morphology1.08300123
109MP0003718_maternal_effect1.07395344
110MP0001672_abnormal_embryogenesis/_devel1.07104204
111MP0005380_embryogenesis_phenotype1.07104204
112MP0001986_abnormal_taste_sensitivity1.06086876
113MP0008995_early_reproductive_senescence1.03804194
114MP0000350_abnormal_cell_proliferation1.02566025
115MP0004145_abnormal_muscle_electrophysio1.01792480
116MP0000428_abnormal_craniofacial_morphol1.01642130
117MP0009053_abnormal_anal_canal1.00897456
118MP0005084_abnormal_gallbladder_morpholo1.00727520
119MP0006054_spinal_hemorrhage1.00681378
120MP0003567_abnormal_fetal_cardiomyocyte1.00328212
121MP0001440_abnormal_grooming_behavior1.00277526
122MP0003937_abnormal_limbs/digits/tail_de0.98970629
123MP0000383_abnormal_hair_follicle0.98769285
124MP0003698_abnormal_male_reproductive0.98641013
125MP0001697_abnormal_embryo_size0.97956369
126MP0005410_abnormal_fertilization0.96677079
127MP0009250_abnormal_appendicular_skeleto0.96045965
128MP0002882_abnormal_neuron_morphology0.95568943
129MP0002109_abnormal_limb_morphology0.94425857
130MP0002111_abnormal_tail_morphology0.94366511
131MP0005174_abnormal_tail_pigmentation0.94011649
132MP0000653_abnormal_sex_gland0.93516460
133MP0000163_abnormal_cartilage_morphology0.92480435
134MP0000427_abnormal_hair_cycle0.91751095
135MP0002115_abnormal_skeleton_extremities0.88447035
136MP0008875_abnormal_xenobiotic_pharmacok0.87322505
137MP0002822_catalepsy0.87087085
138MP0005379_endocrine/exocrine_gland_phen0.86807914
139MP0001145_abnormal_male_reproductive0.86550625
140MP0010386_abnormal_urinary_bladder0.85602208
141MP0001915_intracranial_hemorrhage0.84994489
142MP0000647_abnormal_sebaceous_gland0.84864257
143MP0003984_embryonic_growth_retardation0.84753905
144MP0003787_abnormal_imprinting0.84667902
145MP0002086_abnormal_extraembryonic_tissu0.84539749
146MP0002088_abnormal_embryonic_growth/wei0.83680305
147MP0003935_abnormal_craniofacial_develop0.83047703
148MP0003861_abnormal_nervous_system0.82785478
149MP0004043_abnormal_pH_regulation0.82359376
150MP0002396_abnormal_hematopoietic_system0.81335212
151MP0001119_abnormal_female_reproductive0.80933225
152MP0005391_vision/eye_phenotype0.79899992
153MP0000432_abnormal_head_morphology0.79512304
154MP0004197_abnormal_fetal_growth/weight/0.77518290
155MP0003755_abnormal_palate_morphology0.77142092
156MP0003943_abnormal_hepatobiliary_system0.75994907
157MP0002080_prenatal_lethality0.75264761
158MP0002752_abnormal_somatic_nervous0.74942140
159MP0010678_abnormal_skin_adnexa0.74410881
160MP0002161_abnormal_fertility/fecundity0.74060315
161MP0002092_abnormal_eye_morphology0.73365273
162MP0008789_abnormal_olfactory_epithelium0.71583767
163MP0001545_abnormal_hematopoietic_system0.70007703
164MP0005397_hematopoietic_system_phenotyp0.70007703
165MP0005248_abnormal_Harderian_gland0.68936011
166MP0000631_abnormal_neuroendocrine_gland0.68239634
167MP0003119_abnormal_digestive_system0.68109117
168MP0002697_abnormal_eye_size0.68009346
169MP0002113_abnormal_skeleton_development0.67638960
170MP0005390_skeleton_phenotype0.64979828
171MP0002233_abnormal_nose_morphology0.64782942
172MP0002751_abnormal_autonomic_nervous0.62670226
173MP0000613_abnormal_salivary_gland0.60451530
174MP0000579_abnormal_nail_morphology0.60448860
175MP0009384_cardiac_valve_regurgitation0.60007113

Predicted human phenotypes

RankGene SetZ-score
1Epiphyseal dysplasia (HP:0002656)6.90145075
2Mixed hearing impairment (HP:0000410)6.82124891
3Aplasia/Hypoplasia of the pubic bone (HP:0009104)5.73849171
4Unilateral renal agenesis (HP:0000122)5.59392194
5Bilateral microphthalmos (HP:0007633)5.52350019
6Anomalous pulmonary venous return (HP:0010772)5.40782567
7Hypoplasia of the fovea (HP:0007750)5.15951756
8Aplasia/Hypoplasia of the fovea (HP:0008060)5.15951756
9Hypoplastic ischia (HP:0003175)4.86194649
10Abnormality of the pulmonary veins (HP:0011718)4.69609246
11Pancreatic cysts (HP:0001737)4.34535831
12True hermaphroditism (HP:0010459)4.26392414
13Abnormality of the fovea (HP:0000493)4.23087080
14Pancreatic fibrosis (HP:0100732)4.14814642
15Abnormality of the ischium (HP:0003174)4.12983377
16Abnormality of the intervertebral disk (HP:0005108)4.06493336
17Irregular epiphyses (HP:0010582)4.05458053
18Abnormality of the pubic bones (HP:0003172)4.04325192
19Bell-shaped thorax (HP:0001591)3.97855967
20Absent epiphyses (HP:0010577)3.96991029
21Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)3.96991029
22Vitreoretinal degeneration (HP:0000655)3.84763936
23Fused cervical vertebrae (HP:0002949)3.62489232
24Glossoptosis (HP:0000162)3.52697094
25Aplasia/Hypoplasia of the macula (HP:0008059)3.51165138
26Medial flaring of the eyebrow (HP:0010747)3.47426710
27* Nephronophthisis (HP:0000090)3.45914928
28* Abnormality of midbrain morphology (HP:0002418)3.44970065
29* Molar tooth sign on MRI (HP:0002419)3.44970065
30Mild short stature (HP:0003502)3.34346324
31Abnormal vertebral ossification (HP:0100569)3.28051318
32Aplasia/Hypoplasia affecting the retina (HP:0008061)3.18926965
33Severe Myopia (HP:0011003)3.17851909
34Gait imbalance (HP:0002141)3.13276821
35Vertebral clefting (HP:0008428)3.01709789
36Enlarged epiphyses (HP:0010580)2.99561851
37Pendular nystagmus (HP:0012043)2.98380503
38Congenital primary aphakia (HP:0007707)2.94317142
39Renal dysplasia (HP:0000110)2.87682696
40Oral leukoplakia (HP:0002745)2.86292364
41Congenital stationary night blindness (HP:0007642)2.85989272
42Cystic liver disease (HP:0006706)2.85973001
43* Abnormality of the renal medulla (HP:0100957)2.84148268
44Abolished electroretinogram (ERG) (HP:0000550)2.81321437
45Oligodactyly (HP:0012165)2.76855321
46Nephrogenic diabetes insipidus (HP:0009806)2.76185877
47Sprengel anomaly (HP:0000912)2.72497187
48Methylmalonic acidemia (HP:0002912)2.67349624
49Ectopic anus (HP:0004397)2.66269619
50Type II lissencephaly (HP:0007260)2.65543522
51Sclerocornea (HP:0000647)2.64369826
52Lip pit (HP:0100267)2.61156807
53Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.57653866
54Multifactorial inheritance (HP:0001426)2.57513089
55Chronic hepatic failure (HP:0100626)2.57085598
56Papillary thyroid carcinoma (HP:0002895)2.56756426
57Abnormality of the renal cortex (HP:0011035)2.55716577
58Genital tract atresia (HP:0001827)2.49558420
59Vaginal atresia (HP:0000148)2.49020165
60Absent eyelashes (HP:0000561)2.45215735
61Limb dystonia (HP:0002451)2.42533305
62Synostosis involving the elbow (HP:0003938)2.36783324
63Humeroradial synostosis (HP:0003041)2.36783324
64Aplasia/Hypoplasia of the tongue (HP:0010295)2.35603868
65Anencephaly (HP:0002323)2.33047779
66Genu varum (HP:0002970)2.32505819
67Congenital sensorineural hearing impairment (HP:0008527)2.30396835
68Exostoses (HP:0100777)2.29804588
69Attenuation of retinal blood vessels (HP:0007843)2.29700801
70Synostosis of carpal bones (HP:0005048)2.28139144
71Flared metaphyses (HP:0003015)2.26121751
72Progressive cerebellar ataxia (HP:0002073)2.25766802
73Furrowed tongue (HP:0000221)2.24837555
74Lissencephaly (HP:0001339)2.24528603
75Male pseudohermaphroditism (HP:0000037)2.21781200
76Flattened epiphyses (HP:0003071)2.21634579
77Postaxial foot polydactyly (HP:0001830)2.19004230
78Acute necrotizing encephalopathy (HP:0006965)2.18195133
79Abnormal respiratory motile cilium physiology (HP:0012261)2.17788652
80Abnormal rod and cone electroretinograms (HP:0008323)2.17407587
81Congenital hepatic fibrosis (HP:0002612)2.15477485
82Small epiphyses (HP:0010585)2.13668890
83Arterial tortuosity (HP:0005116)2.13218199
84Short ribs (HP:0000773)2.12653596
85Mitochondrial inheritance (HP:0001427)2.11602807
86Recurrent corneal erosions (HP:0000495)2.11450704
87Meningocele (HP:0002435)2.11318965
88Optic nerve hypoplasia (HP:0000609)2.10123495
89Abnormality of the labia minora (HP:0012880)2.09867456
90Platyspondyly (HP:0000926)2.09409523
91Bony spicule pigmentary retinopathy (HP:0007737)2.09408793
92Hyperglycinemia (HP:0002154)2.08596775
93Focal motor seizures (HP:0011153)2.08417186
94Patellar aplasia (HP:0006443)2.08120173
95Bifid tongue (HP:0010297)2.07888041
96Rhizomelia (HP:0008905)2.07270975
97Postaxial hand polydactyly (HP:0001162)2.07184262
98Hyperventilation (HP:0002883)2.07170299
99Preauricular skin tag (HP:0000384)2.06768180
100Aplasia/Hypoplasia of the spleen (HP:0010451)2.06191958
101Methylmalonic aciduria (HP:0012120)2.03946595
102Absent/shortened dynein arms (HP:0200106)2.03862231
103Dynein arm defect of respiratory motile cilia (HP:0012255)2.03862231
104Poor coordination (HP:0002370)2.02475603
105Morphological abnormality of the inner ear (HP:0011390)2.02306537
106Increased CSF lactate (HP:0002490)2.01632800
107Partial duplication of thumb phalanx (HP:0009944)2.01064665
108Rhinitis (HP:0012384)2.00797920
109Asplenia (HP:0001746)2.00461361
110Morphological abnormality of the middle ear (HP:0008609)2.00330029
111Genetic anticipation (HP:0003743)2.00281032
112Osteoarthritis (HP:0002758)2.00241908
113Congenital, generalized hypertrichosis (HP:0004540)1.99777259
114Hypoplastic ilia (HP:0000946)1.99639280
115Increased nuchal translucency (HP:0010880)1.99353722
116Absent rod-and cone-mediated responses on ERG (HP:0007688)1.97685286
117Abnormal drinking behavior (HP:0030082)1.97428140
118Polydipsia (HP:0001959)1.97428140
119Oligodactyly (hands) (HP:0001180)1.97348567
120Progressive macrocephaly (HP:0004481)1.97071956
121Birth length less than 3rd percentile (HP:0003561)1.96504835
122Tubular atrophy (HP:0000092)1.96386623
123Occipital encephalocele (HP:0002085)1.96295363
124Colon cancer (HP:0003003)1.95950845
125Broad-based gait (HP:0002136)1.95917765
126Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.94556616
127Keratoconus (HP:0000563)1.94312531
128Increased corneal curvature (HP:0100692)1.94312531
129Large for gestational age (HP:0001520)1.92667378
130Abnormal respiratory epithelium morphology (HP:0012253)1.92121600
131Abnormal respiratory motile cilium morphology (HP:0005938)1.92121600
132Intestinal atresia (HP:0011100)1.91553288
133Aplasia/Hypoplasia involving the pelvis (HP:0009103)1.91548234
134Abnormal ciliary motility (HP:0012262)1.91333956
135Gaze-evoked nystagmus (HP:0000640)1.91242160
136Inability to walk (HP:0002540)1.91028399
137Retinal dysplasia (HP:0007973)1.90593016
138Renal cortical cysts (HP:0000803)1.89779584
139Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.89768444
140Acute encephalopathy (HP:0006846)1.88841851
141Skin tags (HP:0010609)1.88769417
142Aplasia/Hypoplasia of the tibia (HP:0005772)1.88307354
143Preaxial hand polydactyly (HP:0001177)1.88250057
144Hemiparesis (HP:0001269)1.88058917
145Partial duplication of the phalanx of hand (HP:0009999)1.87776925
146Specific learning disability (HP:0001328)1.87432022
147Decreased central vision (HP:0007663)1.87175509
148Aplasia/Hypoplasia of the patella (HP:0006498)1.85503755
149Vertebral arch anomaly (HP:0008438)1.85500364
150Renal agenesis (HP:0000104)1.84462118
151Septo-optic dysplasia (HP:0100842)1.83660266
152Chorioretinal atrophy (HP:0000533)1.83340542
153Abnormal mitochondria in muscle tissue (HP:0008316)1.81893509
154Vascular tortuosity (HP:0004948)1.80692584
155Micromelia (HP:0002983)1.78871771
156Cerebellar dysplasia (HP:0007033)1.78565842
157Atresia of the external auditory canal (HP:0000413)1.77802780
158Short thorax (HP:0010306)1.77761164
159Carpal synostosis (HP:0009702)1.76905847
160Abnormality of macular pigmentation (HP:0008002)1.76823321
161Aplasia/Hypoplasia of the uvula (HP:0010293)1.76505101
162Hypoplastic pelvis (HP:0008839)1.75836434
163Focal seizures (HP:0007359)1.75618739
164Spina bifida occulta (HP:0003298)1.75251344
165Hepatocellular necrosis (HP:0001404)1.75210844
166Bicuspid aortic valve (HP:0001647)1.75040698
167Vertebral fusion (HP:0002948)1.73913148
168Supernumerary spleens (HP:0009799)1.73851700
169Optic disc pallor (HP:0000543)1.73244263
170Agitation (HP:0000713)1.73016088
171Hypothermia (HP:0002045)1.72947793
1723-Methylglutaconic aciduria (HP:0003535)1.72032651
173Pachygyria (HP:0001302)1.71774105
174Bile duct proliferation (HP:0001408)1.71386473
175Abnormal biliary tract physiology (HP:0012439)1.71386473
176Protuberant abdomen (HP:0001538)1.67385172
177Aplasia/Hypoplasia of the 5th finger (HP:0006262)1.64848138
178Abnormality of the nasolacrimal system (HP:0000614)1.61781428
179Abnormality of the lacrimal duct (HP:0011481)1.60285571
180Abnormality of the vitreous humor (HP:0004327)1.58882493
181Medulloblastoma (HP:0002885)1.58740775
182Aplasia/Hypoplasia of the sternum (HP:0006714)1.58502011
183Chronic bronchitis (HP:0004469)1.58286521
184Volvulus (HP:0002580)1.57783823
185Hemivertebrae (HP:0002937)1.57723238
186Alopecia of scalp (HP:0002293)1.55640658
187Selective tooth agenesis (HP:0001592)1.55354744

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK4.36757094
2CDC72.99320003
3CASK2.75080082
4MAP4K22.61002286
5WNK32.58147333
6BMPR1B2.52092910
7MARK12.50559814
8LATS12.47475773
9ADRBK22.38049917
10MAPK132.35325413
11DYRK32.28975430
12MKNK12.26356628
13TLK12.18182807
14DYRK1B2.09317746
15ZAK2.06273534
16BUB12.04602153
17TRPM72.04389845
18WEE12.00474407
19DDR211.3961692
20EEF2K1.99626317
21MAP3K41.92345631
22PINK11.82837278
23WNK41.77813781
24NEK21.75976426
25INSRR1.68358097
26TNIK1.60436104
27TESK21.58496356
28MAP2K71.57983469
29STK31.54653555
30OXSR11.49784739
31MKNK21.48679351
32SRPK11.44285098
33CDK61.40912252
34CSNK1G21.38750583
35STK391.37919229
36TTK1.37138496
37UHMK11.33900105
38SIK21.32280012
39PLK21.30716885
40TAOK31.30062264
41YES11.29787555
42DAPK21.29284974
43ERBB31.28296218
44PASK1.28066466
45BCKDK1.26208046
46TAF11.25038612
47TRIM281.24795246
48PRKCG1.20423306
49MAPK151.18650258
50VRK21.17908713
51PLK31.13919347
52VRK11.10119267
53PNCK1.09902017
54PAK31.07617204
55STK161.05929579
56PLK41.05815148
57TGFBR11.03633410
58ADRBK11.00401024
59MARK30.99819430
60PLK10.99589198
61ATR0.98997044
62PAK40.97950979
63AURKB0.94126719
64MAP2K60.93848810
65MAP3K100.91341263
66PRKD30.90837515
67NTRK20.90312430
68CHEK20.89813491
69PHKG20.87143801
70PHKG10.87143801
71STK100.86840072
72ERBB20.86374748
73NTRK30.86356418
74CHEK10.86305420
75PKN20.79922752
76MAPKAPK50.79281942
77PKN10.78485014
78EPHA40.77648310
79LATS20.76916551
80PRKCE0.76532657
81FGFR30.76409032
82MINK10.74515461
83NME10.74172644
84GRK70.73651044
85GRK50.73390062
86FGFR10.73218834
87CCNB10.72708280
88CDK40.68764952
89FGFR20.68219704
90PTK2B0.68019510
91ACVR1B0.67088528
92TSSK60.66916860
93ATM0.66755887
94CAMK2A0.66383999
95MAP3K80.65957000
96CDK70.65928034
97AURKA0.65150418
98BCR0.63480913
99MELK0.63424405
100MAP2K40.62905328
101HIPK20.59958626
102BTK0.59409822
103CDK80.59344959
104PDK40.59108845
105PDK30.59108845
106PIM10.58860261
107RPS6KA40.57902821
108PTK60.57509700
109EIF2AK10.56727453
110CDK20.56377139
111BRD40.56176544
112PRKCI0.56039504
113EPHB10.55709075
114BRSK20.54096749
115RPS6KL10.53235840
116RPS6KC10.53235840
117CDK190.51283299
118CAMKK20.50741332
119EPHB20.50588245
120PRKACA0.50054049
121CSNK1A1L0.49909756
122CSNK1A10.49149297
123STK38L0.48353658
124RPS6KB20.48228457
125RPS6KA50.47436064
126NUAK10.47422585
127DYRK1A0.47198898
128CDK10.46114668
129NEK10.45814421
130BRSK10.45747978
131TXK0.45562615
132BRAF0.45214476
133RPS6KA60.44839703
134NEK90.42582810
135CSNK1G10.42403500
136NLK0.41855375
137GRK10.41638939
138LIMK10.41606563
139TRIB30.40965018
140MAP3K120.40748912
141CSNK2A20.40602487
142STK40.39948863
143TIE10.39822713
144ERBB40.39630506
145PIK3CA0.39192146
146PAK20.37497604
147CSNK2A10.37279059
148LRRK20.37103222
149CSNK1G30.36733740
150STK110.35910330
151SGK4940.35398107
152SGK2230.35398107
153MAP3K60.35358093
154PRKCZ0.35217301
155SGK20.35174043
156CDK50.34834245
157CSNK1D0.34682887
158SIK10.34536588
159CAMK10.33790374
160RPS6KA20.33515584
161CDK30.32349348
162EIF2AK30.31399272
163TESK10.30855053
164PIM20.30375986
165DYRK20.29171797
166RPS6KA10.28447769
167BMPR20.27355836
168CSNK1E0.26052235
169TEC0.25762125

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030303.35209554
2Mismatch repair_Homo sapiens_hsa034303.21965859
3Other types of O-glycan biosynthesis_Homo sapiens_hsa005143.17559058
4Spliceosome_Homo sapiens_hsa030403.10760660
5Cell cycle_Homo sapiens_hsa041103.07959128
6Nicotine addiction_Homo sapiens_hsa050332.76577363
7Base excision repair_Homo sapiens_hsa034102.74059143
8Phototransduction_Homo sapiens_hsa047442.72352934
9Oxidative phosphorylation_Homo sapiens_hsa001902.71369268
10Notch signaling pathway_Homo sapiens_hsa043302.65502651
11Basal cell carcinoma_Homo sapiens_hsa052172.55181260
12TGF-beta signaling pathway_Homo sapiens_hsa043502.45881179
13Hippo signaling pathway_Homo sapiens_hsa043902.42414337
14Nucleotide excision repair_Homo sapiens_hsa034202.37803196
15RNA transport_Homo sapiens_hsa030132.35103402
16Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.25906762
17Parkinsons disease_Homo sapiens_hsa050122.25163553
18Basal transcription factors_Homo sapiens_hsa030222.23014897
19Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.15495980
20Homologous recombination_Homo sapiens_hsa034402.13913953
21Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.05941289
22Maturity onset diabetes of the young_Homo sapiens_hsa049502.05824864
23mRNA surveillance pathway_Homo sapiens_hsa030152.03936248
24Butanoate metabolism_Homo sapiens_hsa006501.99222114
25RNA degradation_Homo sapiens_hsa030181.90666707
26Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.90121193
27Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.82006819
28Ribosome_Homo sapiens_hsa030101.80843821
29RNA polymerase_Homo sapiens_hsa030201.76474761
30Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.69730147
31Fanconi anemia pathway_Homo sapiens_hsa034601.69321329
32Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.69016631
33Huntingtons disease_Homo sapiens_hsa050161.62834117
34Pyrimidine metabolism_Homo sapiens_hsa002401.62372524
35Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.60425677
36Dorso-ventral axis formation_Homo sapiens_hsa043201.56361997
37Wnt signaling pathway_Homo sapiens_hsa043101.51461993
38Nitrogen metabolism_Homo sapiens_hsa009101.49974491
39Cardiac muscle contraction_Homo sapiens_hsa042601.46103278
40Morphine addiction_Homo sapiens_hsa050321.46103036
41Alzheimers disease_Homo sapiens_hsa050101.43663176
42Tryptophan metabolism_Homo sapiens_hsa003801.40094539
43Taste transduction_Homo sapiens_hsa047421.39601460
44Colorectal cancer_Homo sapiens_hsa052101.39142679
45p53 signaling pathway_Homo sapiens_hsa041151.38615398
46One carbon pool by folate_Homo sapiens_hsa006701.35125952
47Olfactory transduction_Homo sapiens_hsa047401.34745428
48Protein digestion and absorption_Homo sapiens_hsa049741.33205299
49Oocyte meiosis_Homo sapiens_hsa041141.32544328
50Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.31488241
51GABAergic synapse_Homo sapiens_hsa047271.29618695
52Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.28794140
53Propanoate metabolism_Homo sapiens_hsa006401.27773979
54Circadian entrainment_Homo sapiens_hsa047131.27575212
55Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.26321346
56Proteasome_Homo sapiens_hsa030501.25279829
57MicroRNAs in cancer_Homo sapiens_hsa052061.21382064
58HTLV-I infection_Homo sapiens_hsa051661.21034278
59Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.19879448
60Transcriptional misregulation in cancer_Homo sapiens_hsa052021.18869999
61Insulin secretion_Homo sapiens_hsa049111.17522630
62Glutamatergic synapse_Homo sapiens_hsa047241.16904789
63ECM-receptor interaction_Homo sapiens_hsa045121.16222363
64Chronic myeloid leukemia_Homo sapiens_hsa052201.15644759
65Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.15475821
66Serotonergic synapse_Homo sapiens_hsa047261.12397609
67Cocaine addiction_Homo sapiens_hsa050301.12074986
68Non-homologous end-joining_Homo sapiens_hsa034501.11670326
69Caffeine metabolism_Homo sapiens_hsa002321.11456895
70Thyroid cancer_Homo sapiens_hsa052161.09979862
71Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.09137543
72Hedgehog signaling pathway_Homo sapiens_hsa043401.08478338
73Chemical carcinogenesis_Homo sapiens_hsa052041.05815296
74Collecting duct acid secretion_Homo sapiens_hsa049661.00948880
75Melanogenesis_Homo sapiens_hsa049160.99435608
76Peroxisome_Homo sapiens_hsa041460.99032947
77Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.98607004
78Dopaminergic synapse_Homo sapiens_hsa047280.97949244
79Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.97821473
80Regulation of autophagy_Homo sapiens_hsa041400.96920520
81Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.96150918
82Adherens junction_Homo sapiens_hsa045200.94569935
83Lysine degradation_Homo sapiens_hsa003100.94274528
84Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.92144571
85Viral carcinogenesis_Homo sapiens_hsa052030.91513045
86Primary bile acid biosynthesis_Homo sapiens_hsa001200.90129904
87Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.89050635
88beta-Alanine metabolism_Homo sapiens_hsa004100.87890077
89Purine metabolism_Homo sapiens_hsa002300.87499547
90Steroid hormone biosynthesis_Homo sapiens_hsa001400.86972214
91Pathways in cancer_Homo sapiens_hsa052000.85394943
92Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.81772712
93Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.81744522
94Epstein-Barr virus infection_Homo sapiens_hsa051690.81537517
95Retinol metabolism_Homo sapiens_hsa008300.78307773
96Salivary secretion_Homo sapiens_hsa049700.77987217
97Antigen processing and presentation_Homo sapiens_hsa046120.77558459
98Small cell lung cancer_Homo sapiens_hsa052220.77483861
99Herpes simplex infection_Homo sapiens_hsa051680.77223072
100Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.77068048
101Steroid biosynthesis_Homo sapiens_hsa001000.76285805
102Amphetamine addiction_Homo sapiens_hsa050310.76073144
103Proteoglycans in cancer_Homo sapiens_hsa052050.74549627
104Pancreatic cancer_Homo sapiens_hsa052120.74303180
105N-Glycan biosynthesis_Homo sapiens_hsa005100.73455790
106Bladder cancer_Homo sapiens_hsa052190.73400996
107Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.72507153
108Glycerolipid metabolism_Homo sapiens_hsa005610.69908748
109Linoleic acid metabolism_Homo sapiens_hsa005910.67878908
110Arachidonic acid metabolism_Homo sapiens_hsa005900.67305712
111Focal adhesion_Homo sapiens_hsa045100.66953121
112Synaptic vesicle cycle_Homo sapiens_hsa047210.64897262
113Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.62513240
114alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.62221956
115Metabolic pathways_Homo sapiens_hsa011000.61376863
116Prostate cancer_Homo sapiens_hsa052150.60387781
117Hepatitis B_Homo sapiens_hsa051610.58395435
118Fatty acid elongation_Homo sapiens_hsa000620.57528275
119Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.56525903
120Calcium signaling pathway_Homo sapiens_hsa040200.56365430
121Histidine metabolism_Homo sapiens_hsa003400.56040314
122Tight junction_Homo sapiens_hsa045300.55643437
123PI3K-Akt signaling pathway_Homo sapiens_hsa041510.54721702
124Cholinergic synapse_Homo sapiens_hsa047250.54396421
125Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.53976565
126Sulfur metabolism_Homo sapiens_hsa009200.53904098
127ABC transporters_Homo sapiens_hsa020100.53847815
128Systemic lupus erythematosus_Homo sapiens_hsa053220.53788709
129Endometrial cancer_Homo sapiens_hsa052130.53082200
130AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.52522480
131Thyroid hormone signaling pathway_Homo sapiens_hsa049190.51043749
132Folate biosynthesis_Homo sapiens_hsa007900.48447323
133Cysteine and methionine metabolism_Homo sapiens_hsa002700.47558959
134Alcoholism_Homo sapiens_hsa050340.46603717
135Selenocompound metabolism_Homo sapiens_hsa004500.46531861
136Melanoma_Homo sapiens_hsa052180.43842625
137Fat digestion and absorption_Homo sapiens_hsa049750.42998825
138Pentose and glucuronate interconversions_Homo sapiens_hsa000400.40935900
139Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.40930514
140Long-term depression_Homo sapiens_hsa047300.40695275
141Sulfur relay system_Homo sapiens_hsa041220.40370800
142Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.39624598
143Ether lipid metabolism_Homo sapiens_hsa005650.39076814
144Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.38533634
145Inositol phosphate metabolism_Homo sapiens_hsa005620.37612418
146Ovarian steroidogenesis_Homo sapiens_hsa049130.37558000
147FoxO signaling pathway_Homo sapiens_hsa040680.36864228
148Fatty acid biosynthesis_Homo sapiens_hsa000610.36741285
149Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.36213224
150Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.35717800
151Leukocyte transendothelial migration_Homo sapiens_hsa046700.35084548
152Prolactin signaling pathway_Homo sapiens_hsa049170.33664715
153Non-small cell lung cancer_Homo sapiens_hsa052230.33335237
154Primary immunodeficiency_Homo sapiens_hsa053400.32488292
155Viral myocarditis_Homo sapiens_hsa054160.32295398
156Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.30322497
157Estrogen signaling pathway_Homo sapiens_hsa049150.30146647
158Protein export_Homo sapiens_hsa030600.28436554
159ErbB signaling pathway_Homo sapiens_hsa040120.28404457
160Acute myeloid leukemia_Homo sapiens_hsa052210.28225095
161Axon guidance_Homo sapiens_hsa043600.28012420
162Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.27137541
163Vitamin B6 metabolism_Homo sapiens_hsa007500.25006845
164Circadian rhythm_Homo sapiens_hsa047100.23113097
165mTOR signaling pathway_Homo sapiens_hsa041500.22060440
166B cell receptor signaling pathway_Homo sapiens_hsa046620.21805132
167Central carbon metabolism in cancer_Homo sapiens_hsa052300.21590069

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