WDR48

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





Description: The protein encoded by this gene has been shown to interact with ubiquitin specific peptidase 1 (USP1), activating the deubiquitinating activity of USP1 and allowing it to remove the ubiquitin moiety from monoubiquitinated FANCD2. FANCD2 is ubiquitinated in response to DNA damage. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cilium or flagellum-dependent cell motility (GO:0001539)9.43913024
2piRNA metabolic process (GO:0034587)8.36414690
3fusion of sperm to egg plasma membrane (GO:0007342)7.83595107
4sperm motility (GO:0030317)7.57479663
5sperm-egg recognition (GO:0035036)7.24374778
6acrosome assembly (GO:0001675)7.16740030
7binding of sperm to zona pellucida (GO:0007339)7.01704851
8male meiosis (GO:0007140)6.74307301
9synaptonemal complex organization (GO:0070193)6.69522281
10synaptonemal complex assembly (GO:0007130)6.68645035
11cell-cell recognition (GO:0009988)6.57167932
12multicellular organism reproduction (GO:0032504)6.04823175
13spermatid development (GO:0007286)5.99960781
14plasma membrane fusion (GO:0045026)5.95070617
15axonemal dynein complex assembly (GO:0070286)5.84510837
16acrosome reaction (GO:0007340)5.82936716
17motile cilium assembly (GO:0044458)5.49647010
18pyrimidine nucleobase catabolic process (GO:0006208)5.47620294
19epithelial cilium movement (GO:0003351)5.34003480
20nuclear pore complex assembly (GO:0051292)5.18215490
21DNA methylation involved in gamete generation (GO:0043046)5.13733286
22reproduction (GO:0000003)5.07855230
23cell wall macromolecule metabolic process (GO:0044036)5.03181029
24cell wall macromolecule catabolic process (GO:0016998)5.03181029
25epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.99610178
26gene silencing by RNA (GO:0031047)4.94468921
27mitotic sister chromatid cohesion (GO:0007064)4.89666331
28nuclear pore organization (GO:0006999)4.72189064
29monoubiquitinated protein deubiquitination (GO:0035520)4.67412724
30chromosome organization involved in meiosis (GO:0070192)4.48602819
31meiotic nuclear division (GO:0007126)4.44333943
32male meiosis I (GO:0007141)4.40886086
33cilium movement (GO:0003341)4.39347769
34regulation of cilium movement (GO:0003352)4.33722405
35presynaptic membrane assembly (GO:0097105)4.32801130
36regulation of centriole replication (GO:0046599)4.31341641
37nucleobase catabolic process (GO:0046113)4.23281283
38* spermatogenesis (GO:0007283)4.08003970
39* male gamete generation (GO:0048232)4.07012561
40presynaptic membrane organization (GO:0097090)4.06832567
41resolution of meiotic recombination intermediates (GO:0000712)3.94525214
42chromosome condensation (GO:0030261)3.91888656
43negative regulation of inclusion body assembly (GO:0090084)3.90044840
44meiotic cell cycle (GO:0051321)3.89781674
45germ cell development (GO:0007281)3.85185224
46* single fertilization (GO:0007338)3.84329868
47negative regulation of organelle assembly (GO:1902116)3.83535022
48meiosis I (GO:0007127)3.83492212
49gene silencing (GO:0016458)3.81649301
50cellular process involved in reproduction in multicellular organism (GO:0022412)3.79966774
51* fertilization (GO:0009566)3.76402854
52DNA double-strand break processing (GO:0000729)3.75757642
53negative regulation of DNA recombination (GO:0045910)3.74771475
54* gamete generation (GO:0007276)3.71605890
55DNA packaging (GO:0006323)3.70711745
56pore complex assembly (GO:0046931)3.69892275
57translesion synthesis (GO:0019985)3.61059000
58protein localization to chromosome, centromeric region (GO:0071459)3.58987840
59regulation of histone H3-K9 methylation (GO:0051570)3.58074045
60sperm capacitation (GO:0048240)3.56170938
61synapsis (GO:0007129)3.53605868
62chaperone-mediated protein complex assembly (GO:0051131)3.50665280
63neural tube formation (GO:0001841)3.49227666
64regulation of mitotic spindle checkpoint (GO:1903504)3.47634645
65regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.47634645
66protein polyglutamylation (GO:0018095)3.46939785
67pre-miRNA processing (GO:0031054)3.45066723
68DNA replication-dependent nucleosome organization (GO:0034723)3.42874186
69DNA replication-dependent nucleosome assembly (GO:0006335)3.42874186
70genitalia morphogenesis (GO:0035112)3.41985416
71microtubule severing (GO:0051013)3.41515366
72microtubule depolymerization (GO:0007019)3.41196303
73mitotic nuclear envelope disassembly (GO:0007077)3.38414260
74peptidyl-lysine dimethylation (GO:0018027)3.37030094
75regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.36537633
76ventricular system development (GO:0021591)3.35571986
77somatic hypermutation of immunoglobulin genes (GO:0016446)3.34692076
78somatic diversification of immune receptors via somatic mutation (GO:0002566)3.34692076
79NLS-bearing protein import into nucleus (GO:0006607)3.33475680
80nuclear envelope disassembly (GO:0051081)3.32886270
81membrane disassembly (GO:0030397)3.32886270
82negative regulation of DNA-dependent DNA replication (GO:2000104)3.32369755
83olfactory bulb development (GO:0021772)3.31364124
84meiotic cell cycle process (GO:1903046)3.30880347
85regulation of inclusion body assembly (GO:0090083)3.26726717
86negative regulation of DNA repair (GO:0045738)3.26143750
87regulation of RNA export from nucleus (GO:0046831)3.26008182
88heterochromatin organization (GO:0070828)3.23901383
89mitotic chromosome condensation (GO:0007076)3.23864271
90regulation of chromatin binding (GO:0035561)3.18165036
91regulation of development, heterochronic (GO:0040034)3.15617401
92sister chromatid segregation (GO:0000819)3.12682410
93DNA ligation (GO:0006266)3.11125028
94cell recognition (GO:0008037)3.09504947
95lactate metabolic process (GO:0006089)3.09272008
96regulation of centrosome cycle (GO:0046605)3.09063894
97neuron cell-cell adhesion (GO:0007158)3.05979850
98establishment of mitochondrion localization (GO:0051654)3.03865164
99sister chromatid cohesion (GO:0007062)3.00877183
100mitotic sister chromatid segregation (GO:0000070)2.99776913
101intraciliary transport (GO:0042073)2.99241116
102DNA integration (GO:0015074)2.98862003
103regulation of meiosis I (GO:0060631)2.98255756
104regulation of NFAT protein import into nucleus (GO:0051532)2.97230045
105response to pheromone (GO:0019236)2.93400918
106cullin deneddylation (GO:0010388)2.93125395
107nonmotile primary cilium assembly (GO:0035058)2.93066187
108nucleus organization (GO:0006997)2.93000906
109regulation of protein polyubiquitination (GO:1902914)2.91665551
110positive regulation of mitotic metaphase/anaphase transition (GO:0045842)2.91021302
111positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)2.91021302
112positive regulation of mitotic sister chromatid separation (GO:1901970)2.91021302
113DNA damage response, detection of DNA damage (GO:0042769)2.91006415
114regulation of DNA endoreduplication (GO:0032875)2.90987730
115chromatin remodeling at centromere (GO:0031055)2.89890985
116* multicellular organismal reproductive process (GO:0048609)2.89120640
117RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.86805174
118cilium morphogenesis (GO:0060271)2.85234382
119kinetochore assembly (GO:0051382)2.83274928
120centriole replication (GO:0007099)2.83260343
121glycolytic process (GO:0006096)2.82625403
122calcium ion-dependent exocytosis (GO:0017156)2.81887930
123regulation of microtubule-based movement (GO:0060632)2.81504424
124double-strand break repair via nonhomologous end joining (GO:0006303)2.81085032
125non-recombinational repair (GO:0000726)2.81085032
126DNA alkylation (GO:0006305)2.78514696
127DNA methylation (GO:0006306)2.78514696
128mitotic spindle checkpoint (GO:0071174)2.77949151
129spindle checkpoint (GO:0031577)2.77460134
130negative regulation of histone methylation (GO:0031061)2.77355240
131regulation of nucleobase-containing compound transport (GO:0032239)2.77307144
132mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)2.76608754
133positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:19021102.76608754
134protein localization to kinetochore (GO:0034501)2.76403976
135histone H2A acetylation (GO:0043968)2.75699224
136regulation of chromosome segregation (GO:0051983)2.75649990
137gamma-aminobutyric acid transport (GO:0015812)2.74314562
138regulation of helicase activity (GO:0051095)2.73642399
139regulation of spindle organization (GO:0090224)2.73516971
140postreplication repair (GO:0006301)2.71198042
141CENP-A containing nucleosome assembly (GO:0034080)2.70398818
142metaphase plate congression (GO:0051310)2.70178680
143replication fork processing (GO:0031297)2.70079717
144protein localization to cilium (GO:0061512)2.69698530
145regulation of timing of cell differentiation (GO:0048505)2.69531438
146protein deneddylation (GO:0000338)2.69379716
147ubiquinone metabolic process (GO:0006743)2.66503499
148kinetochore organization (GO:0051383)2.63198966
149histone exchange (GO:0043486)2.62094847
150regulation of alternative mRNA splicing, via spliceosome (GO:0000381)2.61974130
151negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.61147671
152negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.61147671
153negative regulation of mitotic sister chromatid segregation (GO:0033048)2.61147671
154negative regulation of mitotic sister chromatid separation (GO:2000816)2.61147671
155negative regulation of sister chromatid segregation (GO:0033046)2.61147671
156mechanosensory behavior (GO:0007638)2.60807084
157C4-dicarboxylate transport (GO:0015740)2.60429427
158mitotic spindle assembly checkpoint (GO:0007094)2.59673721
159mismatch repair (GO:0006298)2.57847623
160spindle assembly checkpoint (GO:0071173)2.57149756
161aggressive behavior (GO:0002118)2.56553620
162tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.54454468
163RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.54454468
164negative regulation of chromosome segregation (GO:0051985)2.53145165
165hippocampus development (GO:0021766)2.51953237
166neurotransmitter-gated ion channel clustering (GO:0072578)2.51303017
167histone mRNA metabolic process (GO:0008334)2.50904697
168retinal ganglion cell axon guidance (GO:0031290)2.50154012
169mRNA splice site selection (GO:0006376)2.49904386
170microtubule anchoring (GO:0034453)2.49792681
171positive regulation of mitochondrial fission (GO:0090141)2.48390138
172positive regulation of amino acid transport (GO:0051957)2.48171413
173regulation of mitotic sister chromatid separation (GO:0010965)2.47416015
174regulation of mitotic sister chromatid segregation (GO:0033047)2.47416015
175regulation of sister chromatid segregation (GO:0033045)2.47416015
176establishment of integrated proviral latency (GO:0075713)2.46973230
177cerebral cortex neuron differentiation (GO:0021895)2.46032663
178regulation of mitotic metaphase/anaphase transition (GO:0030071)2.44761734
179regulation of metaphase/anaphase transition of cell cycle (GO:1902099)2.44761734
180exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.44039857
181auditory behavior (GO:0031223)2.43317491
182nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.43203898
183pyrimidine dimer repair (GO:0006290)2.42857908
184forebrain neuron differentiation (GO:0021879)2.42749571
185single strand break repair (GO:0000012)2.41781625
186central nervous system projection neuron axonogenesis (GO:0021952)2.41581210
187histone mRNA catabolic process (GO:0071044)2.41250361

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse9.91148807
2E2F7_22180533_ChIP-Seq_HELA_Human5.36691969
3FOXM1_23109430_ChIP-Seq_U2OS_Human4.99973749
4BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse3.62124600
5IGF1R_20145208_ChIP-Seq_DFB_Human3.30577698
6* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse3.02332570
7HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse3.00898285
8POU3F2_20337985_ChIP-ChIP_501MEL_Human2.95298052
9EGR1_19374776_ChIP-ChIP_THP-1_Human2.83120408
10FUS_26573619_Chip-Seq_HEK293_Human2.71810953
11TAF15_26573619_Chip-Seq_HEK293_Human2.65838185
12GBX2_23144817_ChIP-Seq_PC3_Human2.61288311
13ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.60109435
14EWS_26573619_Chip-Seq_HEK293_Human2.52165216
15ZFP57_27257070_Chip-Seq_ESCs_Mouse2.47264447
16EZH2_22144423_ChIP-Seq_EOC_Human2.43547526
17* KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.40764631
18CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.33984644
19NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.19186286
20E2F4_17652178_ChIP-ChIP_JURKAT_Human2.15733013
21MYC_22102868_ChIP-Seq_BL_Human2.14970611
22EST1_17652178_ChIP-ChIP_JURKAT_Human2.13200738
23ELK1_19687146_ChIP-ChIP_HELA_Human2.11350989
24GABP_17652178_ChIP-ChIP_JURKAT_Human2.11203453
25* KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.09523597
26RBPJ_22232070_ChIP-Seq_NCS_Mouse2.06163575
27P300_19829295_ChIP-Seq_ESCs_Human2.05421438
28STAT6_21828071_ChIP-Seq_BEAS2B_Human1.99483847
29* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.99138839
30* CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.93357546
31GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.90018125
32CTBP2_25329375_ChIP-Seq_LNCAP_Human1.88661167
33FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.86912425
34AR_21909140_ChIP-Seq_LNCAP_Human1.84391701
35VDR_22108803_ChIP-Seq_LS180_Human1.82624207
36CTBP1_25329375_ChIP-Seq_LNCAP_Human1.82603947
37PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.79857560
38SALL1_21062744_ChIP-ChIP_HESCs_Human1.79188032
39GATA1_26923725_Chip-Seq_HPCs_Mouse1.75842080
40ZNF274_21170338_ChIP-Seq_K562_Hela1.70667817
41TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.70496799
42ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.69308875
43TCF7_22412390_ChIP-Seq_EML_Mouse1.69052672
44FLI1_27457419_Chip-Seq_LIVER_Mouse1.68533762
45* VDR_23849224_ChIP-Seq_CD4+_Human1.68324319
46SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.66437119
47ELK4_26923725_Chip-Seq_MESODERM_Mouse1.65601047
48POU5F1_16153702_ChIP-ChIP_HESCs_Human1.62148364
49SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.58626891
50IRF1_19129219_ChIP-ChIP_H3396_Human1.57296556
51EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.56384713
52MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.55825380
53FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.55249502
54SMAD4_21799915_ChIP-Seq_A2780_Human1.55207767
55AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.54579496
56PKCTHETA_26484144_Chip-Seq_BREAST_Human1.54061977
57OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.51007987
58PADI4_21655091_ChIP-ChIP_MCF-7_Human1.49274991
59MYCN_18555785_ChIP-Seq_MESCs_Mouse1.47822056
60UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.42663713
61E2F1_21310950_ChIP-Seq_MCF-7_Human1.40718349
62ER_23166858_ChIP-Seq_MCF-7_Human1.40477056
63WDR5_24793694_ChIP-Seq_LNCAP_Human1.40354971
64RNF2_27304074_Chip-Seq_NSC_Mouse1.39858475
65PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.39484788
66ZNF263_19887448_ChIP-Seq_K562_Human1.39407922
67CREB1_15753290_ChIP-ChIP_HEK293T_Human1.36905554
68ELF1_17652178_ChIP-ChIP_JURKAT_Human1.36320923
69MYC_18940864_ChIP-ChIP_HL60_Human1.35181136
70CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.35064531
71TOP2B_26459242_ChIP-Seq_MCF-7_Human1.34896710
72* CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.32879877
73* KLF4_18555785_ChIP-Seq_MESCs_Mouse1.32210225
74STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.32014651
75IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.31657919
76CBP_20019798_ChIP-Seq_JUKART_Human1.31657919
77STAT3_23295773_ChIP-Seq_U87_Human1.30530777
78* MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.30242346
79PIAS1_25552417_ChIP-Seq_VCAP_Human1.29116976
80KDM2B_26808549_Chip-Seq_DND41_Human1.28913822
81KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.28286319
82NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.27698567
83CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.27418964
84* YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.27173281
85NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.26692934
86SMAD3_21741376_ChIP-Seq_EPCs_Human1.24936127
87GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.24321158
88PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.22831770
89NANOG_18555785_Chip-Seq_ESCs_Mouse1.22790423
90SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.21881066
91FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.21031250
92EZH2_27294783_Chip-Seq_NPCs_Mouse1.20339132
93DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.20281447
94CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.20245048
95RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.18144204
96TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.17747796
97PCGF2_27294783_Chip-Seq_ESCs_Mouse1.16914515
98* AR_25329375_ChIP-Seq_VCAP_Human1.16766013
99FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.15546112
100ELF1_20517297_ChIP-Seq_JURKAT_Human1.14814149
101TCF4_23295773_ChIP-Seq_U87_Human1.14639373
102TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.14597221
103POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.14597221
104SOX2_16153702_ChIP-ChIP_HESCs_Human1.14253129
105KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.10179805
106WT1_19549856_ChIP-ChIP_CCG9911_Human1.10045177
107CBX2_27304074_Chip-Seq_ESCs_Mouse1.09801067
108TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.09335993
109TCF4_22108803_ChIP-Seq_LS180_Human1.09190833
110EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.08259781
111KLF5_20875108_ChIP-Seq_MESCs_Mouse1.08227396
112FOXP3_21729870_ChIP-Seq_TREG_Human1.07692123
113KDM5A_27292631_Chip-Seq_BREAST_Human1.07647843
114SOX9_26525672_Chip-Seq_HEART_Mouse1.06226324
115TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.05224208
116PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.04921205
117P53_22387025_ChIP-Seq_ESCs_Mouse1.04621133
118DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.04267091
119* RUNX2_22187159_ChIP-Seq_PCA_Human1.03159508
120RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.02570031
121TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.01880879
122BCAT_22108803_ChIP-Seq_LS180_Human1.01677809
123KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.00784236
124HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.99772737
125TP63_19390658_ChIP-ChIP_HaCaT_Human0.99733028
126SUZ12_27294783_Chip-Seq_NPCs_Mouse0.99072364
127DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.98981074
128PCGF2_27294783_Chip-Seq_NPCs_Mouse0.98800467
129GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.98605202
130CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.98484184
131TP53_22573176_ChIP-Seq_HFKS_Human0.98453966
132TAL1_26923725_Chip-Seq_HPCs_Mouse0.98444293
133SOX2_19829295_ChIP-Seq_ESCs_Human0.98219021
134NANOG_19829295_ChIP-Seq_ESCs_Human0.98219021
135SALL4_22934838_ChIP-ChIP_CD34+_Human0.97436799
136ETS1_20019798_ChIP-Seq_JURKAT_Human0.97422545
137GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse0.97359971
138FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.97303140
139MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.97301433
140NANOG_21062744_ChIP-ChIP_HESCs_Human0.95377815
141CIITA_25753668_ChIP-Seq_RAJI_Human0.94728166
142TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.94079162
143* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.93985148
144PHF8_20622854_ChIP-Seq_HELA_Human0.93170171
145* SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.92760368
146CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.91721260
147ZFP281_18757296_ChIP-ChIP_E14_Mouse0.91586822
148LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.91076354
149RUNX1_26923725_Chip-Seq_HPCs_Mouse0.90792763
150ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.90562808
151TP53_22127205_ChIP-Seq_IMR90_Human0.90190698
152* SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.89102251
153UTX_26944678_Chip-Seq_JUKART_Human0.86774776
154MYB_26560356_Chip-Seq_TH1_Human0.85481076
155SMC4_20622854_ChIP-Seq_HELA_Human0.85080954
156E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.84181376
157BRD4_27068464_Chip-Seq_AML-cells_Mouse0.83307581
158ZFP281_27345836_Chip-Seq_ESCs_Mouse0.81985352
159NFIB_24661679_ChIP-Seq_LUNG_Mouse0.81659313
160EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse0.80333185
161RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.80028850
162SOX2_21211035_ChIP-Seq_LN229_Human0.79185718
163GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.78082856
164MYB_21317192_ChIP-Seq_ERMYB_Mouse0.77377787
165RARA_24833708_ChIP-Seq_LIVER_Mouse0.77310412
166CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.76540156
167ZFX_18555785_ChIP-Seq_MESCs_Mouse0.75838958
168P68_20966046_ChIP-Seq_HELA_Human0.75065758
169TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.75005759
170RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.73869457
171MYB_26560356_Chip-Seq_TH2_Human0.73630582
172TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.73033274
173MAF_26560356_Chip-Seq_TH1_Human0.72872749
174POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.72836450
175NCOR1_26117541_ChIP-Seq_K562_Human0.72802912
176GATA3_26560356_Chip-Seq_TH1_Human0.71824593
177SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.71754000
178OCT4_19829295_ChIP-Seq_ESCs_Human0.71602822
179YY1_22570637_ChIP-Seq_MALME-3M_Human0.71338020
180* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.71258210
181BCOR_27268052_Chip-Seq_Bcells_Human0.69336181
182E2F1_20622854_ChIP-Seq_HELA_Human0.69300687
183KLF4_19829295_ChIP-Seq_ESCs_Human0.68521159
184TET1_21490601_ChIP-Seq_MESCs_Mouse0.67296995
185BCL6_27268052_Chip-Seq_Bcells_Human0.66857202

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization8.93324973
2MP0008877_abnormal_DNA_methylation4.97896140
3MP0003698_abnormal_male_reproductive4.00920710
4MP0001929_abnormal_gametogenesis3.95120643
5MP0000569_abnormal_digit_pigmentation3.23715530
6MP0003880_abnormal_central_pattern3.00058812
7MP0002210_abnormal_sex_determination2.88199573
8MP0010094_abnormal_chromosome_stability2.79980465
9MP0002653_abnormal_ependyma_morphology2.77237970
10MP0003122_maternal_imprinting2.76970143
11MP0005076_abnormal_cell_differentiation2.69453565
12MP0006292_abnormal_olfactory_placode2.49257532
13MP0001145_abnormal_male_reproductive2.47000347
14MP0003111_abnormal_nucleus_morphology2.45483853
15MP0010307_abnormal_tumor_latency2.45437351
16MP0002161_abnormal_fertility/fecundity2.36948096
17MP0006276_abnormal_autonomic_nervous2.35833683
18MP0001529_abnormal_vocalization2.35475493
19MP0003705_abnormal_hypodermis_morpholog2.22511227
20MP0002102_abnormal_ear_morphology2.17115252
21MP0010352_gastrointestinal_tract_polyps2.16359722
22MP0008789_abnormal_olfactory_epithelium2.15480770
23MP0003077_abnormal_cell_cycle2.12702694
24MP0000653_abnormal_sex_gland2.12459936
25MP0002822_catalepsy2.12205645
26MP0000778_abnormal_nervous_system2.11756414
27MP0010234_abnormal_vibrissa_follicle2.03132867
28MP0005623_abnormal_meninges_morphology1.99624684
29MP0004147_increased_porphyrin_level1.97700828
30MP0005499_abnormal_olfactory_system1.94225749
31MP0005394_taste/olfaction_phenotype1.94225749
32MP0008007_abnormal_cellular_replicative1.92452980
33MP0008057_abnormal_DNA_replication1.91524044
34MP0004233_abnormal_muscle_weight1.89196950
35MP0001730_embryonic_growth_arrest1.87288282
36MP0001984_abnormal_olfaction1.86147069
37MP0009278_abnormal_bone_marrow1.84143679
38MP0003693_abnormal_embryo_hatching1.81387753
39MP0004270_analgesia1.78177797
40MP0003123_paternal_imprinting1.76962783
41MP0008961_abnormal_basal_metabolism1.74664403
42MP0001486_abnormal_startle_reflex1.71073361
43MP0005253_abnormal_eye_physiology1.68122960
44MP0005084_abnormal_gallbladder_morpholo1.68033344
45MP0004808_abnormal_hematopoietic_stem1.65566955
46MP0002736_abnormal_nociception_after1.63506221
47MP0000631_abnormal_neuroendocrine_gland1.61053916
48MP0005423_abnormal_somatic_nervous1.59588311
49MP0005248_abnormal_Harderian_gland1.56623356
50MP0005397_hematopoietic_system_phenotyp1.52643122
51MP0001545_abnormal_hematopoietic_system1.52643122
52MP0003567_abnormal_fetal_cardiomyocyte1.52036636
53MP0006072_abnormal_retinal_apoptosis1.51632553
54MP0002282_abnormal_trachea_morphology1.50188736
55MP0002638_abnormal_pupillary_reflex1.47749422
56MP0004957_abnormal_blastocyst_morpholog1.45146268
57MP0000350_abnormal_cell_proliferation1.44436053
58MP0003718_maternal_effect1.42535325
59MP0008058_abnormal_DNA_repair1.40941261
60MP0002751_abnormal_autonomic_nervous1.40215466
61MP0005551_abnormal_eye_electrophysiolog1.39608547
62MP0003635_abnormal_synaptic_transmissio1.34020500
63MP0002735_abnormal_chemical_nociception1.33574265
64MP0001968_abnormal_touch/_nociception1.33384480
65MP0001177_atelectasis1.32498828
66MP0009745_abnormal_behavioral_response1.32426076
67MP0001672_abnormal_embryogenesis/_devel1.29254388
68MP0005380_embryogenesis_phenotype1.29254388
69MP0002233_abnormal_nose_morphology1.28492736
70MP0002084_abnormal_developmental_patter1.27978876
71MP0002160_abnormal_reproductive_system1.25459026
72MP0001697_abnormal_embryo_size1.24815878
73MP0004859_abnormal_synaptic_plasticity1.24796409
74MP0003115_abnormal_respiratory_system1.22730382
75MP0000537_abnormal_urethra_morphology1.22290451
76MP0003984_embryonic_growth_retardation1.21448606
77MP0002734_abnormal_mechanical_nocicepti1.20983504
78MP0002009_preneoplasia1.19968489
79MP0002088_abnormal_embryonic_growth/wei1.19954574
80MP0002272_abnormal_nervous_system1.18882197
81MP0004142_abnormal_muscle_tone1.18604327
82MP0004197_abnormal_fetal_growth/weight/1.17199242
83MP0009697_abnormal_copulation1.16658152
84MP0000372_irregular_coat_pigmentation1.16078262
85MP0003303_peritoneal_inflammation1.15894956
86MP0002557_abnormal_social/conspecific_i1.14856527
87MP0003121_genomic_imprinting1.14114728
88MP0002080_prenatal_lethality1.13359427
89MP0002063_abnormal_learning/memory/cond1.13259055
90MP0002572_abnormal_emotion/affect_behav1.12400773
91MP0000955_abnormal_spinal_cord1.10917167
92MP0001986_abnormal_taste_sensitivity1.10869246
93MP0001188_hyperpigmentation1.10666898
94MP0002086_abnormal_extraembryonic_tissu1.09678504
95MP0000647_abnormal_sebaceous_gland1.08444262
96MP0005645_abnormal_hypothalamus_physiol1.07553688
97MP0008995_early_reproductive_senescence1.06824990
98MP0003300_gastrointestinal_ulcer1.06271917
99MP0004145_abnormal_muscle_electrophysio1.05267902
100MP0005187_abnormal_penis_morphology1.05100405
101MP0002938_white_spotting1.05036662
102MP0009053_abnormal_anal_canal1.03970999
103MP0001849_ear_inflammation1.03852023
104MP0005367_renal/urinary_system_phenotyp1.03618758
105MP0000516_abnormal_urinary_system1.03618758
106MP0003890_abnormal_embryonic-extraembry1.03517720
107MP0002085_abnormal_embryonic_tissue1.02262072
108MP0005391_vision/eye_phenotype1.02197489
109MP0003937_abnormal_limbs/digits/tail_de1.02159855
110MP0003787_abnormal_imprinting1.01842657
111MP0000358_abnormal_cell_content/0.97804446
112MP0002095_abnormal_skin_pigmentation0.95992947
113MP0002882_abnormal_neuron_morphology0.94359190
114MP0002184_abnormal_innervation0.93183491
115MP0003786_premature_aging0.92296510
116MP0001286_abnormal_eye_development0.91643260
117MP0002064_seizures0.88876753
118MP0002067_abnormal_sensory_capabilities0.88041495
119MP0001970_abnormal_pain_threshold0.86351921
120MP0002752_abnormal_somatic_nervous0.85856600
121MP0004885_abnormal_endolymph0.84776939
122MP0001119_abnormal_female_reproductive0.84581709
123MP0000733_abnormal_muscle_development0.84491503
124MP0003119_abnormal_digestive_system0.82794935
125MP0000313_abnormal_cell_death0.82762337
126MP0002733_abnormal_thermal_nociception0.82505483
127MP0003221_abnormal_cardiomyocyte_apopto0.81069258
128MP0006054_spinal_hemorrhage0.79474363
129MP0009046_muscle_twitch0.79213055
130MP0005386_behavior/neurological_phenoty0.77126664
131MP0004924_abnormal_behavior0.77126664
132MP0009672_abnormal_birth_weight0.76458477
133MP0008260_abnormal_autophagy0.76380305
134MP0001348_abnormal_lacrimal_gland0.75547860
135MP0002234_abnormal_pharynx_morphology0.74735338
136MP0004811_abnormal_neuron_physiology0.72884171
137MP0000534_abnormal_ureter_morphology0.72251104
138MP0003091_abnormal_cell_migration0.72043768
139MP0003646_muscle_fatigue0.71249438
140MP0001915_intracranial_hemorrhage0.70606315
141MP0002019_abnormal_tumor_incidence0.70535107
142MP0005384_cellular_phenotype0.69858114
143MP0003861_abnormal_nervous_system0.69380618
144MP0002089_abnormal_postnatal_growth/wei0.68686221
145MP0001293_anophthalmia0.68206514
146MP0005621_abnormal_cell_physiology0.67983537
147MP0002928_abnormal_bile_duct0.67886846
148MP0003283_abnormal_digestive_organ0.67184805
149MP0005670_abnormal_white_adipose0.66326593
150MP0000703_abnormal_thymus_morphology0.64998414
151MP0009703_decreased_birth_body0.62313009
152MP0005389_reproductive_system_phenotype0.58868976
153MP0002092_abnormal_eye_morphology0.58758052
154MP0008932_abnormal_embryonic_tissue0.58349672
155MP0002269_muscular_atrophy0.58324081
156MP0003699_abnormal_female_reproductive0.58152905
157MP0008770_decreased_survivor_rate0.57161380
158MP0004084_abnormal_cardiac_muscle0.54943056
159MP0002925_abnormal_cardiovascular_devel0.54007180
160MP0004264_abnormal_extraembryonic_tissu0.52999448
161MP0002909_abnormal_adrenal_gland0.52862225
162MP0000604_amyloidosis0.50421069
163MP0000266_abnormal_heart_morphology0.50405315
164MP0000371_diluted_coat_color0.50090586
165MP0003329_amyloid_beta_deposits0.48119044
166MP0002877_abnormal_melanocyte_morpholog0.48072950
167MP0003566_abnormal_cell_adhesion0.47111801
168MP0001299_abnormal_eye_distance/0.46241570
169MP0002152_abnormal_brain_morphology0.45517257

Predicted human phenotypes

RankGene SetZ-score
1Respiratory insufficiency due to defective ciliary clearance (HP:0200073)7.88954876
2Absent/shortened dynein arms (HP:0200106)7.47093143
3Dynein arm defect of respiratory motile cilia (HP:0012255)7.47093143
4Abnormality of the lower motor neuron (HP:0002366)5.57793822
5Abnormal respiratory motile cilium physiology (HP:0012261)4.98544143
6Nasal polyposis (HP:0100582)4.90980521
7Rhinitis (HP:0012384)4.76291070
8Chronic bronchitis (HP:0004469)4.69353152
9Infertility (HP:0000789)4.65940263
10Abnormal respiratory motile cilium morphology (HP:0005938)4.61700856
11Abnormal respiratory epithelium morphology (HP:0012253)4.61700856
12Abnormality of the nasal mucosa (HP:0000433)3.98285705
13Colon cancer (HP:0003003)3.78915616
14Abnormality of the labia minora (HP:0012880)3.66497492
15Amyotrophic lateral sclerosis (HP:0007354)3.45497060
16Male infertility (HP:0003251)3.24247872
17Abnormal ciliary motility (HP:0012262)3.23183102
18Agnosia (HP:0010524)3.18678406
19Bronchitis (HP:0012387)3.17947271
20Degeneration of anterior horn cells (HP:0002398)2.97651285
21Abnormality of the anterior horn cell (HP:0006802)2.97651285
22Nephronophthisis (HP:0000090)2.92079326
23Bronchiectasis (HP:0002110)2.91343918
24Heterotopia (HP:0002282)2.89881550
25Medulloblastoma (HP:0002885)2.85301699
26Upper motor neuron abnormality (HP:0002127)2.80469865
27Absent frontal sinuses (HP:0002688)2.75763705
28Tubulointerstitial nephritis (HP:0001970)2.72406937
29Hypoplasia of the capital femoral epiphysis (HP:0003090)2.70244520
30Gonadotropin excess (HP:0000837)2.61788672
31Intestinal atresia (HP:0011100)2.61172193
32Hyperacusis (HP:0010780)2.60934793
33Pancreatic cysts (HP:0001737)2.59897330
34Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)2.59463761
35True hermaphroditism (HP:0010459)2.59187489
36Abnormal spermatogenesis (HP:0008669)2.54790944
37Pancreatic fibrosis (HP:0100732)2.51805657
38Hyperglycinemia (HP:0002154)2.50842542
39Oligodactyly (hands) (HP:0001180)2.50057416
40Abnormal lung lobation (HP:0002101)2.46323021
41Gait imbalance (HP:0002141)2.44308179
42Medial flaring of the eyebrow (HP:0010747)2.41544463
43Renovascular hypertension (HP:0100817)2.40883938
44Hyperventilation (HP:0002883)2.40123241
45Stomach cancer (HP:0012126)2.38414195
46Congenital primary aphakia (HP:0007707)2.37467215
47Recurrent otitis media (HP:0000403)2.36839527
48Nephrogenic diabetes insipidus (HP:0009806)2.35977486
49Fibular hypoplasia (HP:0003038)2.34752869
50Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.32984800
51Degeneration of the lateral corticospinal tracts (HP:0002314)2.32984800
52Methylmalonic acidemia (HP:0002912)2.32799021
53Hand muscle atrophy (HP:0009130)2.32092750
54Impulsivity (HP:0100710)2.29887715
55Absent epiphyses (HP:0010577)2.28635436
56Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.28635436
57Hepatoblastoma (HP:0002884)2.27611819
58Retinal dysplasia (HP:0007973)2.26918197
59Drooling (HP:0002307)2.24165981
60Abnormal hair whorl (HP:0010721)2.22714978
61Molar tooth sign on MRI (HP:0002419)2.22612625
62Abnormality of midbrain morphology (HP:0002418)2.22612625
63High pitched voice (HP:0001620)2.21831345
64Genital tract atresia (HP:0001827)2.17500829
65Recurrent bronchitis (HP:0002837)2.17010016
66Short tibia (HP:0005736)2.12272291
67Atrophy/Degeneration involving motor neurons (HP:0007373)2.11933249
68Hypochromic microcytic anemia (HP:0004840)2.11210444
69Optic nerve hypoplasia (HP:0000609)2.09376070
70Thyroid carcinoma (HP:0002890)2.08745162
71Vaginal atresia (HP:0000148)2.07623296
72Abnormality of the renal medulla (HP:0100957)2.07092269
73Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.06538387
74Short 4th metacarpal (HP:0010044)2.06538387
75Excessive salivation (HP:0003781)2.05615786
76Astrocytoma (HP:0009592)2.05279176
77Abnormality of the astrocytes (HP:0100707)2.05279176
78Short ribs (HP:0000773)2.03796920
79Broad foot (HP:0001769)2.03683694
80Focal motor seizures (HP:0011153)2.03539718
81Lissencephaly (HP:0001339)2.03367429
82Ependymoma (HP:0002888)2.02293763
83Papillary thyroid carcinoma (HP:0002895)2.01562949
84Postaxial hand polydactyly (HP:0001162)2.01410599
85Abnormality of ocular smooth pursuit (HP:0000617)2.01374983
86Aplasia/Hypoplasia of the tibia (HP:0005772)2.00434865
87Bifid tongue (HP:0010297)1.99409706
88Abnormality of chromosome stability (HP:0003220)1.99253694
89Broad distal phalanx of finger (HP:0009836)1.98414917
90Elfin facies (HP:0004428)1.98225104
91Abnormality of the corticospinal tract (HP:0002492)1.98055178
92Dysmetric saccades (HP:0000641)1.97675018
93Hemiparesis (HP:0001269)1.95843278
94Increased nuchal translucency (HP:0010880)1.95553058
95Selective tooth agenesis (HP:0001592)1.95423529
96Chronic hepatic failure (HP:0100626)1.95321768
97Neoplasm of the oral cavity (HP:0100649)1.94461155
98Aplasia/Hypoplasia of the uvula (HP:0010293)1.93096354
99Specific learning disability (HP:0001328)1.89979137
100Oligodactyly (HP:0012165)1.89768918
101Polyphagia (HP:0002591)1.89243308
102Renal duplication (HP:0000075)1.89029945
103Meckel diverticulum (HP:0002245)1.88885699
104Narrow forehead (HP:0000341)1.88574320
105Tubular atrophy (HP:0000092)1.88565083
106Septo-optic dysplasia (HP:0100842)1.88559317
107Upper limb amyotrophy (HP:0009129)1.87995930
108Distal upper limb amyotrophy (HP:0007149)1.87995930
109Pachygyria (HP:0001302)1.87702911
110Aplasia/Hypoplasia of the tongue (HP:0010295)1.87683691
111Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.87552185
112Growth hormone deficiency (HP:0000824)1.87261493
113Postaxial foot polydactyly (HP:0001830)1.86598520
114Neoplasm of the adrenal cortex (HP:0100641)1.86462938
115Median cleft lip (HP:0000161)1.86299976
116Failure to thrive in infancy (HP:0001531)1.86095695
117Cortical dysplasia (HP:0002539)1.85364989
118Abnormality of glycine metabolism (HP:0010895)1.83154701
119Abnormality of serine family amino acid metabolism (HP:0010894)1.83154701
120Aplasia/Hypoplasia of the sternum (HP:0006714)1.81647909
121Stenosis of the external auditory canal (HP:0000402)1.81565321
122Rimmed vacuoles (HP:0003805)1.81121059
123Abnormality of the ileum (HP:0001549)1.80735348
124Preaxial hand polydactyly (HP:0001177)1.80058920
125Insomnia (HP:0100785)1.79998808
126Azoospermia (HP:0000027)1.79555670
127Prominent nose (HP:0000448)1.79476915
128Nephroblastoma (Wilms tumor) (HP:0002667)1.79340931
129Abnormality of the septum pellucidum (HP:0007375)1.79314941
130Abnormality involving the epiphyses of the upper limbs (HP:0003839)1.79138456
131Progressive inability to walk (HP:0002505)1.78338467
132Type II lissencephaly (HP:0007260)1.77719386
133Inability to walk (HP:0002540)1.77195872
134Atonic seizures (HP:0010819)1.76396229
135Chromosomal breakage induced by crosslinking agents (HP:0003221)1.76119728
136Spastic tetraparesis (HP:0001285)1.75570275
137Truncal obesity (HP:0001956)1.74893758
138Cutaneous melanoma (HP:0012056)1.74523769
139Poor coordination (HP:0002370)1.73880855
140Embryonal renal neoplasm (HP:0011794)1.73826335
141Renal cortical cysts (HP:0000803)1.73590769
142Large earlobe (HP:0009748)1.72160886
143Megalocornea (HP:0000485)1.72040970
144Recurrent sinusitis (HP:0011108)1.71859526
145Sloping forehead (HP:0000340)1.71170244
146Absent speech (HP:0001344)1.70635589
147Chromsome breakage (HP:0040012)1.70517000
148Bowel diverticulosis (HP:0005222)1.70273185
149Deformed sella turcica (HP:0002681)1.70207157
150Cerebral aneurysm (HP:0004944)1.70047922
151Abnormal biliary tract physiology (HP:0012439)1.69040668
152Bile duct proliferation (HP:0001408)1.69040668
153Renal hypoplasia (HP:0000089)1.68828236
154Spinal muscular atrophy (HP:0007269)1.68510458
155Increased hepatocellular lipid droplets (HP:0006565)1.68265643
156Volvulus (HP:0002580)1.67745889
157Personality changes (HP:0000751)1.67435760
158Impaired vibration sensation in the lower limbs (HP:0002166)1.67264584
159Gastrointestinal atresia (HP:0002589)1.66040507
160Abnormality of the epiphyses of the phalanges of the hand (HP:0005920)1.65798735
161Rhabdomyosarcoma (HP:0002859)1.65524837
162Hypopigmentation of the fundus (HP:0007894)1.65195317
163Abnormality of the epiphyses of the hand (HP:0005924)1.64754345
164Supernumerary spleens (HP:0009799)1.64152158
165Pointed chin (HP:0000307)1.63700172
166Shoulder girdle muscle weakness (HP:0003547)1.61896552
167Global brain atrophy (HP:0002283)1.61552058
168Abnormality of the 4th metacarpal (HP:0010012)1.61413923
169Breast carcinoma (HP:0003002)1.61317349
170Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.61262123
171Abnormality of the motor neurons (HP:0002450)1.57619743
172Abnormal neuron morphology (HP:0012757)1.57619743
173Dislocated radial head (HP:0003083)1.55597323
174Abnormality of the radial head (HP:0003995)1.54620594
175Aplasia/Hypoplasia of the fibula (HP:0006492)1.52154083
176Glioma (HP:0009733)1.49883625
177Overriding aorta (HP:0002623)1.49150725
178Intellectual disability, profound (HP:0002187)1.48577950
179Hypoplastic labia majora (HP:0000059)1.47864487
180Impaired proprioception (HP:0010831)1.47860871
181Long toe (HP:0010511)1.46803452
18211 pairs of ribs (HP:0000878)1.45294958
183Posterior subcapsular cataract (HP:0007787)1.43897780
184Rhizomelia (HP:0008905)1.43556546
185Sandal gap (HP:0001852)1.43382906
186Impaired smooth pursuit (HP:0007772)1.43185755
187Conjunctival telangiectasia (HP:0000524)1.41261952
188Obsessive-compulsive behavior (HP:0000722)1.40275417
189Disinhibition (HP:0000734)1.39000371

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK46.12708286
2PDK36.12708286
3PRKD33.92751101
4TESK13.74677089
5PDK23.69821636
6WNK33.37336756
7NEK23.23290705
8TRIM283.15071965
9ICK2.92431521
10MAP2K72.62394905
11CDC72.39173127
12BCR2.38770413
13EEF2K2.37388096
14NEK12.31324055
15SRPK12.27401789
16MKNK12.21079449
17TNIK2.14032704
18MAP4K22.01804402
19TRIB32.00026969
20NUAK11.99295594
21PLK21.96275241
22MAPK131.91272385
23PTK2B1.83977554
24CDK121.81267816
25CSNK1G21.78490465
26ERBB31.76619341
27PLK41.75750922
28CDK191.70924412
29MAP3K101.65125376
30PKN21.63314413
31CSNK1G11.61167113
32CSNK1G31.60292833
33DYRK21.52108396
34BMPR1B1.51788632
35MKNK21.48901236
36EPHA41.45781414
37CSNK1A1L1.44660819
38STK31.40772676
39CASK1.40310160
40STK38L1.39960161
41STK381.38184800
42MAP3K91.33912373
43CCNB11.33695309
44TAOK11.32652729
45PINK11.28271537
46EIF2AK31.20258855
47DYRK1B1.15655935
48ZAK1.14181841
49TTK1.12237283
50TYRO31.12179930
51WEE11.12070962
52LMTK21.10738865
53YES11.06175277
54PNCK1.04943408
55ATR1.03985416
56PASK1.02561973
57KSR21.02033579
58RIPK11.00366958
59KSR10.98535554
60CHEK10.96870085
61UHMK10.95751912
62DYRK1A0.92587010
63MTOR0.91126662
64SCYL20.91055172
65BCKDK0.87427742
66MAP2K40.86991042
67VRK10.86036254
68BUB10.85885808
69LATS10.85484574
70CAMKK10.82625441
71LATS20.80180495
72PAK60.79458920
73CDK30.79276316
74OXSR10.79060069
75MARK10.78478539
76PLK10.76961485
77EPHA30.75593899
78PDGFRA0.74758133
79INSRR0.74126408
80PAK40.72493598
81CHEK20.72057112
82PAK30.68729248
83SIK20.67353649
84DYRK30.67199375
85BRSK10.66942685
86PLK30.66362207
87NTRK20.64971696
88ATM0.64581051
89PDK10.63130535
90CDK60.63097590
91WNK40.61129045
92PKN10.60824337
93AKT30.59567591
94ACVR1B0.58608285
95RPS6KA40.57663026
96PTK60.57483548
97CDK40.57138696
98CAMK1G0.54203449
99MAP3K80.54000566
100MINK10.53608199
101FRK0.53157371
102CAMKK20.53027989
103ALK0.52856511
104MAPKAPK50.52059993
105NLK0.50667261
106SGK20.50219682
107CDK20.49386167
108RET0.49357730
109SGK2230.49320147
110SGK4940.49320147
111BRD40.49056648
112CDK140.48737148
113PRKCG0.48080642
114TAF10.47626023
115FES0.47302293
116FGFR20.46549655
117PRKCE0.46521244
118STK100.46486703
119TIE10.46254736
120TESK20.45568229
121MST40.45317732
122FGFR10.45105285
123TTN0.44045964
124TGFBR10.43834551
125GRK10.43720442
126RPS6KA50.42908339
127CAMK2A0.42256848
128PAK20.41909424
129PRKAA10.41736910
130CDK180.41454710
131MAP3K40.41407392
132EGFR0.39979871
133WNK10.39565429
134STK160.39505977
135CDK50.39459344
136NTRK30.38666454
137SIK30.38406968
138RPS6KB10.37849072
139MAP3K60.37793665
140PBK0.37777937
141CDK10.36602650
142NEK60.36415429
143ERBB20.36044827
144CLK10.35785434
145STK110.35282733
146SGK30.35274219
147TSSK60.34881003
148PDGFRB0.34787847
149EIF2AK10.34706055
150CDK11A0.34694317
151RAF10.34242404
152CDK150.34186953
153PAK10.34100030
154PRKACB0.33783342
155AURKB0.33645458
156DAPK10.33537798
157DAPK20.32887817
158MAP3K50.28871463
159PRKDC0.27868298
160CSNK1D0.27682117
161MARK20.27296450
162BMX0.27285771
163BRSK20.27065076
164MARK30.26585945
165DDR20.26568374
166TAOK30.26296516
167FGFR30.26154325
168MAPK80.24280213
169ERN10.23360102
170MAPKAPK30.23203246

Predicted pathways (KEGG)

RankGene SetZ-score
1Non-homologous end-joining_Homo sapiens_hsa034503.58805336
2Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.14946068
3Propanoate metabolism_Homo sapiens_hsa006403.09570679
4Nicotine addiction_Homo sapiens_hsa050332.80329246
5Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.76054560
6Protein export_Homo sapiens_hsa030602.37385837
7Oocyte meiosis_Homo sapiens_hsa041142.31455481
8Regulation of autophagy_Homo sapiens_hsa041402.26274421
9Steroid biosynthesis_Homo sapiens_hsa001002.23207422
10Glycolysis / Gluconeogenesis_Homo sapiens_hsa000102.13803767
11RNA transport_Homo sapiens_hsa030132.12849873
12Dorso-ventral axis formation_Homo sapiens_hsa043202.05050838
13Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.04236603
14Vitamin B6 metabolism_Homo sapiens_hsa007501.97857943
15Homologous recombination_Homo sapiens_hsa034401.93812671
16Phototransduction_Homo sapiens_hsa047441.88490560
17mRNA surveillance pathway_Homo sapiens_hsa030151.87285229
18Glucagon signaling pathway_Homo sapiens_hsa049221.82817233
19Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.81900253
20Cell cycle_Homo sapiens_hsa041101.73153717
21mTOR signaling pathway_Homo sapiens_hsa041501.70405019
22Butanoate metabolism_Homo sapiens_hsa006501.69649478
23Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.68913796
24Selenocompound metabolism_Homo sapiens_hsa004501.67927695
25Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.67240435
26Central carbon metabolism in cancer_Homo sapiens_hsa052301.65653493
27RNA polymerase_Homo sapiens_hsa030201.64329325
28Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.60258861
29Carbohydrate digestion and absorption_Homo sapiens_hsa049731.44213203
30Pyruvate metabolism_Homo sapiens_hsa006201.42130661
31GABAergic synapse_Homo sapiens_hsa047271.38499722
32Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.33390144
33Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.32449727
34Pentose phosphate pathway_Homo sapiens_hsa000301.32388992
35Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.29323518
36Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.27383194
37Fatty acid biosynthesis_Homo sapiens_hsa000611.25337819
38Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.25046469
39Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.24087435
40VEGF signaling pathway_Homo sapiens_hsa043701.22349997
41Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.20935929
42DNA replication_Homo sapiens_hsa030301.19788504
43Thyroid hormone signaling pathway_Homo sapiens_hsa049191.19720472
44Fatty acid elongation_Homo sapiens_hsa000621.18360844
45Ether lipid metabolism_Homo sapiens_hsa005651.18175035
46Estrogen signaling pathway_Homo sapiens_hsa049151.15169258
47Morphine addiction_Homo sapiens_hsa050321.14960054
48Chronic myeloid leukemia_Homo sapiens_hsa052201.14953528
49Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.14667014
50Viral carcinogenesis_Homo sapiens_hsa052031.13709252
51Long-term potentiation_Homo sapiens_hsa047201.13416073
52Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.13052939
53Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.11753225
54Peroxisome_Homo sapiens_hsa041461.11648553
55Linoleic acid metabolism_Homo sapiens_hsa005911.10168701
56Collecting duct acid secretion_Homo sapiens_hsa049661.08446497
57alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.07776451
58Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.06689485
59Basal transcription factors_Homo sapiens_hsa030221.05600489
60Glioma_Homo sapiens_hsa052141.03807446
61Biosynthesis of amino acids_Homo sapiens_hsa012301.03271418
62Endometrial cancer_Homo sapiens_hsa052131.02229146
63Purine metabolism_Homo sapiens_hsa002301.02051814
64Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.01103438
65Nucleotide excision repair_Homo sapiens_hsa034201.00688189
66HTLV-I infection_Homo sapiens_hsa051660.99247624
67Type II diabetes mellitus_Homo sapiens_hsa049300.97627028
68Colorectal cancer_Homo sapiens_hsa052100.97095970
69p53 signaling pathway_Homo sapiens_hsa041150.96571197
70Antigen processing and presentation_Homo sapiens_hsa046120.96413314
71Parkinsons disease_Homo sapiens_hsa050120.96251597
72Fructose and mannose metabolism_Homo sapiens_hsa000510.94950759
73Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.94076253
74B cell receptor signaling pathway_Homo sapiens_hsa046620.93813631
75Long-term depression_Homo sapiens_hsa047300.92679372
76Neurotrophin signaling pathway_Homo sapiens_hsa047220.92349491
77Longevity regulating pathway - mammal_Homo sapiens_hsa042110.91672196
78Spliceosome_Homo sapiens_hsa030400.91567974
79Circadian rhythm_Homo sapiens_hsa047100.90721750
80Synaptic vesicle cycle_Homo sapiens_hsa047210.90720963
81Proteasome_Homo sapiens_hsa030500.89700931
82AMPK signaling pathway_Homo sapiens_hsa041520.89238840
83HIF-1 signaling pathway_Homo sapiens_hsa040660.89216668
84Amphetamine addiction_Homo sapiens_hsa050310.89127240
85Taste transduction_Homo sapiens_hsa047420.88166230
86Oxidative phosphorylation_Homo sapiens_hsa001900.87136300
87Circadian entrainment_Homo sapiens_hsa047130.86867389
88Phosphatidylinositol signaling system_Homo sapiens_hsa040700.86723709
89Base excision repair_Homo sapiens_hsa034100.85479807
90Endocytosis_Homo sapiens_hsa041440.85010611
91Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.84494307
92Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.83878587
93Dopaminergic synapse_Homo sapiens_hsa047280.82879011
94Olfactory transduction_Homo sapiens_hsa047400.82739524
95Cysteine and methionine metabolism_Homo sapiens_hsa002700.82327617
96Nitrogen metabolism_Homo sapiens_hsa009100.81711228
97Small cell lung cancer_Homo sapiens_hsa052220.81615005
98Renin secretion_Homo sapiens_hsa049240.80600082
99Non-small cell lung cancer_Homo sapiens_hsa052230.80341949
100Epstein-Barr virus infection_Homo sapiens_hsa051690.79046063
101Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.78135341
102Pancreatic cancer_Homo sapiens_hsa052120.77406306
103Carbon metabolism_Homo sapiens_hsa012000.74886445
104Hippo signaling pathway_Homo sapiens_hsa043900.74448427
105Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.73813262
106Insulin signaling pathway_Homo sapiens_hsa049100.73474306
107Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.73404112
108cGMP-PKG signaling pathway_Homo sapiens_hsa040220.72739920
109Lysine degradation_Homo sapiens_hsa003100.72674843
110Caffeine metabolism_Homo sapiens_hsa002320.70655194
111Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.69429073
112Legionellosis_Homo sapiens_hsa051340.68143404
113Adherens junction_Homo sapiens_hsa045200.67901006
114Inositol phosphate metabolism_Homo sapiens_hsa005620.67649416
115MicroRNAs in cancer_Homo sapiens_hsa052060.67563304
116Systemic lupus erythematosus_Homo sapiens_hsa053220.67502894
117Glutamatergic synapse_Homo sapiens_hsa047240.67492433
118Mismatch repair_Homo sapiens_hsa034300.67394942
119beta-Alanine metabolism_Homo sapiens_hsa004100.67338317
120Insulin resistance_Homo sapiens_hsa049310.66907349
121Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.65855541
122Glycerolipid metabolism_Homo sapiens_hsa005610.65200480
123Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.64826757
124Acute myeloid leukemia_Homo sapiens_hsa052210.64592133
125T cell receptor signaling pathway_Homo sapiens_hsa046600.64132306
126* Fanconi anemia pathway_Homo sapiens_hsa034600.63886275
127Shigellosis_Homo sapiens_hsa051310.63842837
128Proteoglycans in cancer_Homo sapiens_hsa052050.63048666
129Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.62244433
130Tryptophan metabolism_Homo sapiens_hsa003800.62080724
131Serotonergic synapse_Homo sapiens_hsa047260.60924710
132Alcoholism_Homo sapiens_hsa050340.60783490
133Toxoplasmosis_Homo sapiens_hsa051450.59401498
134Influenza A_Homo sapiens_hsa051640.58044582
135Axon guidance_Homo sapiens_hsa043600.57736299
136Hepatitis B_Homo sapiens_hsa051610.57717915
137Renal cell carcinoma_Homo sapiens_hsa052110.57702453
138Adipocytokine signaling pathway_Homo sapiens_hsa049200.57683955
139Oxytocin signaling pathway_Homo sapiens_hsa049210.56799377
140Prolactin signaling pathway_Homo sapiens_hsa049170.56680482
141Fatty acid metabolism_Homo sapiens_hsa012120.56518924
142Viral myocarditis_Homo sapiens_hsa054160.56168799
143Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.54823904
144RNA degradation_Homo sapiens_hsa030180.52583725
145Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.52424941
146Huntingtons disease_Homo sapiens_hsa050160.52025108
147Hedgehog signaling pathway_Homo sapiens_hsa043400.51095018
148Osteoclast differentiation_Homo sapiens_hsa043800.50065888
149Gap junction_Homo sapiens_hsa045400.49798038
150MAPK signaling pathway_Homo sapiens_hsa040100.48392189
151Aldosterone synthesis and secretion_Homo sapiens_hsa049250.47043818
152Thyroid cancer_Homo sapiens_hsa052160.46839860
153ErbB signaling pathway_Homo sapiens_hsa040120.45453463
154Pyrimidine metabolism_Homo sapiens_hsa002400.44629885
155Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.44359474
156Cocaine addiction_Homo sapiens_hsa050300.40072751
157Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.38507608
158cAMP signaling pathway_Homo sapiens_hsa040240.34406964
159Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.32740772
160Wnt signaling pathway_Homo sapiens_hsa043100.30708926
161Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.29616757
162Metabolic pathways_Homo sapiens_hsa011000.27364294
163NOD-like receptor signaling pathway_Homo sapiens_hsa046210.26044789
164Type I diabetes mellitus_Homo sapiens_hsa049400.25859115
165Asthma_Homo sapiens_hsa053100.25223406
166Maturity onset diabetes of the young_Homo sapiens_hsa049500.24809372
167Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.23509173
168Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.22672478
169Cholinergic synapse_Homo sapiens_hsa047250.17243774
170Retinol metabolism_Homo sapiens_hsa008300.16575827

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