DDX50

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: DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box enzyme that may be involved in ribosomal RNA synthesis or processing. This gene and DDX21, also called RH-II/GuA, have similar genomic structures and are in tandem orientation on chromosome 10, suggesting that the two genes arose by gene duplication in evolution. This gene has pseudogenes on chromosomes 2, 3 and 4. Alternative splicing of this gene generates multiple transcript variants, but the full length nature of all the other variants but one has not been defined. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1maintenance of protein localization in endoplasmic reticulum (GO:0035437)7.61385962
2protein retention in ER lumen (GO:0006621)6.47315300
3retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)5.94987565
4COPII vesicle coating (GO:0048208)5.93439403
5activation of signaling protein activity involved in unfolded protein response (GO:0006987)5.68065454
6exocrine pancreas development (GO:0031017)5.55096281
7positive regulation of nuclease activity (GO:0032075)5.52086974
8regulation of nuclease activity (GO:0032069)5.04973931
9vesicle coating (GO:0006901)5.01294858
10endoplasmic reticulum unfolded protein response (GO:0030968)4.91674862
11cellular response to unfolded protein (GO:0034620)4.75083330
12signal peptide processing (GO:0006465)4.55235636
13ER-nucleus signaling pathway (GO:0006984)4.53579065
14cellular response to topologically incorrect protein (GO:0035967)4.50028278
15formation of translation preinitiation complex (GO:0001731)4.49783857
16mitotic metaphase plate congression (GO:0007080)4.35921640
17CENP-A containing nucleosome assembly (GO:0034080)4.28106684
18chromatin remodeling at centromere (GO:0031055)4.23953185
19protein maturation by protein folding (GO:0022417)4.21528863
20ribosomal small subunit assembly (GO:0000028)4.19669964
21DNA strand elongation involved in DNA replication (GO:0006271)4.19571879
22telomere maintenance via semi-conservative replication (GO:0032201)4.06278656
23protein localization to kinetochore (GO:0034501)4.05250868
24metaphase plate congression (GO:0051310)4.04558148
25valine metabolic process (GO:0006573)4.02551634
26kinetochore organization (GO:0051383)3.99936962
27DNA strand elongation (GO:0022616)3.98434882
28nuclear pore organization (GO:0006999)3.96406074
294-hydroxyproline metabolic process (GO:0019471)3.95866934
30nuclear pore complex assembly (GO:0051292)3.93647753
31establishment of protein localization to mitochondrial membrane (GO:0090151)3.93119236
32DNA ligation (GO:0006266)3.92426471
33somatic diversification of immune receptors via somatic mutation (GO:0002566)3.91777487
34somatic hypermutation of immunoglobulin genes (GO:0016446)3.91777487
35establishment of integrated proviral latency (GO:0075713)3.89891936
36type B pancreatic cell development (GO:0003323)3.87873779
37sequestering of metal ion (GO:0051238)3.85908773
38ribosomal large subunit biogenesis (GO:0042273)3.85707395
39mitotic recombination (GO:0006312)3.82462640
40response to endoplasmic reticulum stress (GO:0034976)3.81844069
41lung vasculature development (GO:0060426)3.80163370
42telomere maintenance via recombination (GO:0000722)3.79764960
43sister chromatid segregation (GO:0000819)3.69713604
44ER overload response (GO:0006983)3.69438191
45mitotic sister chromatid segregation (GO:0000070)3.68583693
46synapsis (GO:0007129)3.67299269
47response to unfolded protein (GO:0006986)3.66528255
48endocrine pancreas development (GO:0031018)3.64409616
49maturation of SSU-rRNA (GO:0030490)3.62893136
50kinetochore assembly (GO:0051382)3.61570697
51protein localization to chromosome, centromeric region (GO:0071459)3.60083170
52glandular epithelial cell development (GO:0002068)3.57548682
53histone exchange (GO:0043486)3.56683057
54DNA unwinding involved in DNA replication (GO:0006268)3.55250622
55translational termination (GO:0006415)3.54006578
56response to topologically incorrect protein (GO:0035966)3.50939594
57SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.47347085
58ER to Golgi vesicle-mediated transport (GO:0006888)3.46970969
59viral transcription (GO:0019083)3.46841998
60intra-Golgi vesicle-mediated transport (GO:0006891)3.46337815
61regulation of centriole replication (GO:0046599)3.44629876
62purine nucleobase biosynthetic process (GO:0009113)3.44588532
63cotranslational protein targeting to membrane (GO:0006613)3.44365113
64proteasome assembly (GO:0043248)3.44298025
65establishment of chromosome localization (GO:0051303)3.43357421
66nucleotide-excision repair, DNA gap filling (GO:0006297)3.42861313
67double-strand break repair via nonhomologous end joining (GO:0006303)3.41833157
68non-recombinational repair (GO:0000726)3.41833157
69insulin-like growth factor receptor signaling pathway (GO:0048009)3.41340101
70translational initiation (GO:0006413)3.39050509
71peptidyl-asparagine modification (GO:0018196)3.36633860
72DNA replication-independent nucleosome organization (GO:0034724)3.36384605
73DNA replication-independent nucleosome assembly (GO:0006336)3.36384605
74ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)3.36077218
75protein N-linked glycosylation via asparagine (GO:0018279)3.36035647
76protein targeting to ER (GO:0045047)3.34517983
77ribosome assembly (GO:0042255)3.31562335
78peptide hormone processing (GO:0016486)3.30296169
79centriole replication (GO:0007099)3.29412928
80DNA replication checkpoint (GO:0000076)3.28628463
81establishment of protein localization to endoplasmic reticulum (GO:0072599)3.27700420
82positive regulation of hormone biosynthetic process (GO:0046886)3.24385104
83amino acid activation (GO:0043038)3.22152182
84tRNA aminoacylation (GO:0043039)3.22152182
85regulation of helicase activity (GO:0051095)3.21439457
86positive regulation of glycolytic process (GO:0045821)3.21029859
87tRNA aminoacylation for protein translation (GO:0006418)3.20615868
88ribosomal small subunit biogenesis (GO:0042274)3.17082659
89negative regulation of glycoprotein biosynthetic process (GO:0010561)3.16406573
90tricarboxylic acid metabolic process (GO:0072350)3.16005071
91nucleobase biosynthetic process (GO:0046112)3.15267520
92regulation of DNA endoreduplication (GO:0032875)3.14944064
93protein localization to endoplasmic reticulum (GO:0070972)3.14733453
94telomere maintenance via telomere lengthening (GO:0010833)3.13535505
95mitotic chromosome condensation (GO:0007076)3.11908415
96DNA topological change (GO:0006265)3.11053931
97regulation of mitochondrial translation (GO:0070129)3.11003058
98attachment of spindle microtubules to kinetochore (GO:0008608)3.10534987
99oxaloacetate metabolic process (GO:0006107)3.09985188
100negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.09589591
101Golgi organization (GO:0007030)3.08968605
102spindle checkpoint (GO:0031577)3.07735593
103regulation of chromosome segregation (GO:0051983)3.06957532
104translational elongation (GO:0006414)3.06414717
105regulation of mitotic sister chromatid separation (GO:0010965)3.06355367
106regulation of mitotic sister chromatid segregation (GO:0033047)3.06355367
107regulation of sister chromatid segregation (GO:0033045)3.06355367
108negative regulation of mitotic sister chromatid separation (GO:2000816)3.06216904
109negative regulation of sister chromatid segregation (GO:0033046)3.06216904
110negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.06216904
111negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.06216904
112negative regulation of mitotic sister chromatid segregation (GO:0033048)3.06216904
113positive regulation of mitotic metaphase/anaphase transition (GO:0045842)3.05970075
114positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)3.05970075
115positive regulation of mitotic sister chromatid separation (GO:1901970)3.05970075
116nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.05786551
117negative regulation of chromosome segregation (GO:0051985)3.05647801
118ribonucleoprotein complex biogenesis (GO:0022613)3.05214687
119cellular response to vitamin D (GO:0071305)3.05185534
120mitotic spindle checkpoint (GO:0071174)3.04616539
121anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.04519151
122regulation of mitotic metaphase/anaphase transition (GO:0030071)3.04262158
123regulation of metaphase/anaphase transition of cell cycle (GO:1902099)3.04262158
124resolution of meiotic recombination intermediates (GO:0000712)3.02889324
125pore complex assembly (GO:0046931)3.02652406
126regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.02080763
127regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.01534103
128DNA strand renaturation (GO:0000733)2.99769007
129protein N-linked glycosylation (GO:0006487)2.99301297
130DNA replication initiation (GO:0006270)2.99125605
131translation (GO:0006412)2.99094091
132succinate metabolic process (GO:0006105)2.98706129
133establishment of viral latency (GO:0019043)2.98454589
134negative regulation of DNA-dependent DNA replication (GO:2000104)2.98022523
135DNA double-strand break processing (GO:0000729)2.97415454
136DNA damage response, detection of DNA damage (GO:0042769)2.95206189
137UDP-N-acetylglucosamine metabolic process (GO:0006047)2.95032133
138mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.94529152
139regulation of type B pancreatic cell apoptotic process (GO:2000674)2.94427343
140exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.94265834
141replication fork processing (GO:0031297)2.93518025
142somatic recombination of immunoglobulin gene segments (GO:0016447)2.91697136
143glandular epithelial cell differentiation (GO:0002067)2.91591720
144mitotic spindle assembly checkpoint (GO:0007094)2.91529087
145regulation of hexokinase activity (GO:1903299)2.89337901
146regulation of glucokinase activity (GO:0033131)2.89337901
147misfolded or incompletely synthesized protein catabolic process (GO:0006515)2.86169473
148intestinal cholesterol absorption (GO:0030299)2.83415926
149peptide catabolic process (GO:0043171)2.82481958
150protein hydroxylation (GO:0018126)2.80859367
151regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)2.79816016
152regulation of ER to Golgi vesicle-mediated transport (GO:0060628)2.79413738
153regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022352.71724051
154dorsal/ventral axis specification (GO:0009950)2.70321160
155peptidyl-lysine dimethylation (GO:0018027)2.70116330
156positive regulation of glycogen biosynthetic process (GO:0045725)2.68482332
157folic acid-containing compound biosynthetic process (GO:0009396)2.67906139
158positive regulation of insulin secretion (GO:0032024)2.62886901
159positive regulation of receptor biosynthetic process (GO:0010870)2.62868889
160peptidyl-proline hydroxylation (GO:0019511)2.57880502
161mitotic sister chromatid cohesion (GO:0007064)2.57568051
162positive regulation of glycoprotein metabolic process (GO:1903020)2.55211984
163keratan sulfate catabolic process (GO:0042340)2.54301695
164cellular response to vitamin (GO:0071295)2.53532501
165proline biosynthetic process (GO:0006561)2.50612264
166lysine catabolic process (GO:0006554)2.50376521
167lysine metabolic process (GO:0006553)2.50376521
168collagen fibril organization (GO:0030199)2.50071701
169protein autoprocessing (GO:0016540)2.48849150
170glucocorticoid receptor signaling pathway (GO:0042921)2.46552684
171regulation of glycogen biosynthetic process (GO:0005979)2.46058466
172regulation of glucan biosynthetic process (GO:0010962)2.46058466
173positive regulation of fatty acid beta-oxidation (GO:0032000)2.45519787
174toxin metabolic process (GO:0009404)2.44283081
175chaperone-mediated protein folding (GO:0061077)2.40046757
176columnar/cuboidal epithelial cell development (GO:0002066)2.39753999
177genitalia morphogenesis (GO:0035112)2.39432814
178regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.38748571
179cell redox homeostasis (GO:0045454)2.38434747
180negative regulation of glycogen biosynthetic process (GO:0045719)2.35171246
181transcytosis (GO:0045056)2.33197838
182monoubiquitinated protein deubiquitination (GO:0035520)2.32589125
183maintenance of protein localization in organelle (GO:0072595)2.32399840
184growth hormone receptor signaling pathway (GO:0060396)2.31105221
185regulation of fatty acid beta-oxidation (GO:0031998)2.31099748
186regulation of polysaccharide biosynthetic process (GO:0032885)2.30980648
187cell migration involved in sprouting angiogenesis (GO:0002042)2.30626823
188negative regulation of glycoprotein metabolic process (GO:1903019)2.30149161
189lactate metabolic process (GO:0006089)2.30057559
190positive regulation of histone deacetylation (GO:0031065)2.28929849
191cellular zinc ion homeostasis (GO:0006882)2.28424473
192positive regulation of hormone metabolic process (GO:0032352)2.27048729
193protein localization to Golgi apparatus (GO:0034067)2.26436950
194regulation of glucose import in response to insulin stimulus (GO:2001273)2.26357362
195necroptotic process (GO:0070266)2.26136857
196L-alpha-amino acid transmembrane transport (GO:1902475)2.25699499
197macroautophagy (GO:0016236)2.25415002
198COPI coating of Golgi vesicle (GO:0048205)11.0129258
199Golgi transport vesicle coating (GO:0048200)11.0129258

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse6.77424435
2E2F7_22180533_ChIP-Seq_HELA_Human4.37686354
3E2F4_17652178_ChIP-ChIP_JURKAT_Human4.24974738
4KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.22158377
5GATA1_22025678_ChIP-Seq_K562_Human3.99537736
6E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.65502930
7CLOCK_20551151_ChIP-Seq_293T_Human3.58203733
8EST1_17652178_ChIP-ChIP_JURKAT_Human3.53803075
9FOXM1_23109430_ChIP-Seq_U2OS_Human3.32106696
10EGR1_19374776_ChIP-ChIP_THP-1_Human3.30277263
11* FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.07092296
12ESR1_17901129_ChIP-ChIP_LIVER_Mouse3.02579146
13RBPJ_22232070_ChIP-Seq_NCS_Mouse3.00599562
14PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.85071743
15STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.76952283
16CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.64845254
17ETS1_20019798_ChIP-Seq_JURKAT_Human2.58072874
18JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.56803753
19TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.54993060
20PRDM5_23873026_ChIP-Seq_MEFs_Mouse2.53493750
21HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.52931351
22NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.48456366
23MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.48029597
24DMRT1_21621532_ChIP-ChIP_FETAL_Ovary2.43612675
25RXR_22158963_ChIP-Seq_LIVER_Mouse2.42975960
26HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.41793450
27MYC_19079543_ChIP-ChIP_MESCs_Mouse2.32464164
28PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.29497123
29* MYC_18358816_ChIP-ChIP_MESCs_Mouse2.19383061
30* KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.12591199
31PPARA_22158963_ChIP-Seq_LIVER_Mouse2.10881054
32* ZFX_18555785_ChIP-Seq_MESCs_Mouse2.07282595
33LXR_22158963_ChIP-Seq_LIVER_Mouse1.98531440
34MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.97225451
35TTF2_22483619_ChIP-Seq_HELA_Human1.92082327
36PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.81246698
37ELF1_17652178_ChIP-ChIP_JURKAT_Human1.79407319
38MYC_22102868_ChIP-Seq_BL_Human1.78724152
39FUS_26573619_Chip-Seq_HEK293_Human1.74022645
40XRN2_22483619_ChIP-Seq_HELA_Human1.73708363
41SALL1_21062744_ChIP-ChIP_HESCs_Human1.73522064
42TRIM28_21343339_ChIP-Seq_HEK293_Human1.72960989
43IRF8_22096565_ChIP-ChIP_GC-B_Human1.72002708
44EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.71358495
45CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.71095597
46TFEB_21752829_ChIP-Seq_HELA_Human1.70868738
47EWS_26573619_Chip-Seq_HEK293_Human1.69410514
48NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.68155217
49* CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.68002705
50MYC_18555785_ChIP-Seq_MESCs_Mouse1.67316018
51PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.66721059
52E2F1_21310950_ChIP-Seq_MCF-7_Human1.64322032
53FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.62797628
54ELK1_19687146_ChIP-ChIP_HELA_Human1.60271436
55POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.58760748
56ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.58131788
57NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.56443592
58THAP11_20581084_ChIP-Seq_MESCs_Mouse1.56218306
59* MYC_18940864_ChIP-ChIP_HL60_Human1.56123668
60NELFA_20434984_ChIP-Seq_ESCs_Mouse1.56086887
61MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.55181555
62SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.53685095
63SRF_21415370_ChIP-Seq_HL-1_Mouse1.52678011
64TP63_19390658_ChIP-ChIP_HaCaT_Human1.51767174
65TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.51172471
66CHD1_26751641_Chip-Seq_LNCaP_Human1.50484390
67HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.49892234
68WT1_19549856_ChIP-ChIP_CCG9911_Human1.49384443
69BRD4_25478319_ChIP-Seq_HGPS_Human1.49187986
70ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.47352796
71PADI4_21655091_ChIP-ChIP_MCF-7_Human1.45361177
72CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.43439447
73IRF1_19129219_ChIP-ChIP_H3396_Human1.42873476
74* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.40197610
75POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.38125423
76HOXB4_20404135_ChIP-ChIP_EML_Mouse1.37766375
77ERG_20887958_ChIP-Seq_HPC-7_Mouse1.37605519
78* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.33097289
79HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.30905072
80POU3F2_20337985_ChIP-ChIP_501MEL_Human1.29012970
81CIITA_25753668_ChIP-Seq_RAJI_Human1.26122779
82AR_21909140_ChIP-Seq_LNCAP_Human1.25778693
83HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.24845739
84EGR1_23403033_ChIP-Seq_LIVER_Mouse1.23214031
85MYCN_18555785_ChIP-Seq_MESCs_Mouse1.22428959
86RARG_19884340_ChIP-ChIP_MEFs_Mouse1.21346369
87ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.20918799
88* CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.20629884
89* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.20470715
90DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.20323923
91KDM5A_27292631_Chip-Seq_BREAST_Human1.20247683
92SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.19957454
93CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.19480022
94GATA4_21415370_ChIP-Seq_HL-1_Mouse1.18037300
95YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.17326089
96DCP1A_22483619_ChIP-Seq_HELA_Human1.15872055
97PKCTHETA_26484144_Chip-Seq_BREAST_Human1.15785109
98SALL4_18804426_ChIP-ChIP_XEN_Mouse1.15676279
99SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.14406346
100TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.14210002
101NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.14127645
102FOXA1_26743006_Chip-Seq_LNCaP-abl_Human1.13617153
103* GABP_19822575_ChIP-Seq_HepG2_Human1.13131328
104FOXP3_21729870_ChIP-Seq_TREG_Human1.11963560
105CREB1_15753290_ChIP-ChIP_HEK293T_Human1.11547427
106STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.10561765
107POU5F1_16153702_ChIP-ChIP_HESCs_Human1.07031617
108* VDR_23849224_ChIP-Seq_CD4+_Human1.06492363
109IGF1R_20145208_ChIP-Seq_DFB_Human1.05158314
110* GABP_17652178_ChIP-ChIP_JURKAT_Human1.03587904
111NOTCH1_21737748_ChIP-Seq_TLL_Human1.02722141
112TAF15_26573619_Chip-Seq_HEK293_Human1.02630217
113CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.01703589
114CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.00701528
115E2F1_18555785_ChIP-Seq_MESCs_Mouse1.00504663
116SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.00143925
117NANOG_16153702_ChIP-ChIP_HESCs_Human1.00091723
118FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.99888188
119FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.99797839
120ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.99441369
121FLI1_27457419_Chip-Seq_LIVER_Mouse0.99010478
122TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.98940289
123SOX2_27498859_Chip-Seq_STOMACH_Mouse0.98712255
124ZNF274_21170338_ChIP-Seq_K562_Hela0.98283217
125ESR1_21235772_ChIP-Seq_MCF-7_Human0.97802987
126NFIB_24661679_ChIP-Seq_LUNG_Mouse0.97647036
127NANOG_18555785_ChIP-Seq_MESCs_Mouse0.97622118
128SOX2_16153702_ChIP-ChIP_HESCs_Human0.97411361
129CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.96706449
130GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.96132837
131SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.95860271
132RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.91263368
133KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.91100820
134BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.89349175
135FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.88596810
136GATA3_24758297_ChIP-Seq_MCF-7_Human0.88513749
137SOX2_18555785_ChIP-Seq_MESCs_Mouse0.88427052
138AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.87842112
139ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.86679536
140* CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.85758960
141ELK1_22589737_ChIP-Seq_MCF10A_Human0.85125706
142TCF7_22412390_ChIP-Seq_EML_Mouse0.84818696
143TCF7L2_21901280_ChIP-Seq_H4IIE_Rat0.84150698
144GATA2_21666600_ChIP-Seq_HMVEC_Human0.84061497
145STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.82859656
146ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.82608133
147TBX5_21415370_ChIP-Seq_HL-1_Mouse0.82468542
148SOX17_20123909_ChIP-Seq_XEN_Mouse0.81831866
149CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.81638982
150* MYC_19030024_ChIP-ChIP_MESCs_Mouse0.81322508
151MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.80773477
152VDR_22108803_ChIP-Seq_LS180_Human0.79215218
153ZFP57_27257070_Chip-Seq_ESCs_Mouse0.78119156
154YY1_21170310_ChIP-Seq_MESCs_Mouse0.75451200
155CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.71155222
156P300_19829295_ChIP-Seq_ESCs_Human0.70900985
157KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.70142213
158IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.68965249
159CBP_20019798_ChIP-Seq_JUKART_Human0.68965249

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010094_abnormal_chromosome_stability4.54302131
2MP0006292_abnormal_olfactory_placode4.53384933
3MP0002877_abnormal_melanocyte_morpholog4.29702420
4MP0008058_abnormal_DNA_repair4.16903484
5MP0006054_spinal_hemorrhage3.71485807
6MP0003111_abnormal_nucleus_morphology3.38505927
7MP0003077_abnormal_cell_cycle3.23272435
8MP0008057_abnormal_DNA_replication3.20480927
9MP0000013_abnormal_adipose_tissue3.05932103
10MP0008438_abnormal_cutaneous_collagen3.01667708
11MP0005365_abnormal_bile_salt2.99356718
12MP0005220_abnormal_exocrine_pancreas2.76045094
13MP0010234_abnormal_vibrissa_follicle2.57678497
14MP0008932_abnormal_embryonic_tissue2.57589197
15MP0010352_gastrointestinal_tract_polyps2.49836579
16MP0003705_abnormal_hypodermis_morpholog2.48927641
17MP0008877_abnormal_DNA_methylation2.44925155
18MP0009780_abnormal_chondrocyte_physiolo2.41353962
19MP0001944_abnormal_pancreas_morphology2.41327489
20MP0009697_abnormal_copulation2.41186088
21MP0003283_abnormal_digestive_organ2.40336333
22MP0003123_paternal_imprinting2.24969655
23MP0002693_abnormal_pancreas_physiology2.23182105
24MP0003252_abnormal_bile_duct2.17835639
25MP0008789_abnormal_olfactory_epithelium2.17695621
26MP0002139_abnormal_hepatobiliary_system2.15187692
27MP0003786_premature_aging2.12898859
28MP0003718_maternal_effect2.07955070
29MP0001293_anophthalmia2.03403297
30MP0002837_dystrophic_cardiac_calcinosis1.98675363
31MP0002909_abnormal_adrenal_gland1.98397891
32MP0002938_white_spotting1.95886458
33MP0008995_early_reproductive_senescence1.94388863
34MP0009379_abnormal_foot_pigmentation1.91775518
35MP0003300_gastrointestinal_ulcer1.89860338
36MP0010030_abnormal_orbit_morphology1.89110839
37MP0003195_calcinosis1.81096226
38MP0005503_abnormal_tendon_morphology1.79109024
39MP0004264_abnormal_extraembryonic_tissu1.77687456
40MP0002928_abnormal_bile_duct1.73265814
41MP0003122_maternal_imprinting1.68466486
42MP0002896_abnormal_bone_mineralization1.67673779
43MP0000003_abnormal_adipose_tissue1.66785959
44MP0005275_abnormal_skin_tensile1.64087730
45MP0004147_increased_porphyrin_level1.63186304
46MP0003937_abnormal_limbs/digits/tail_de1.58527207
47MP0005085_abnormal_gallbladder_physiolo1.57516743
48MP0003567_abnormal_fetal_cardiomyocyte1.53627802
49MP0005394_taste/olfaction_phenotype1.52214701
50MP0005499_abnormal_olfactory_system1.52214701
51MP0001529_abnormal_vocalization1.50652436
52MP0003868_abnormal_feces_composition1.48751288
53MP0002233_abnormal_nose_morphology1.47376663
54MP0000678_abnormal_parathyroid_gland1.45736743
55MP0001730_embryonic_growth_arrest1.44992158
56MP0002210_abnormal_sex_determination1.44532178
57MP0001666_abnormal_nutrient_absorption1.44235526
58MP0001879_abnormal_lymphatic_vessel1.43241733
59MP0000350_abnormal_cell_proliferation1.42843253
60MP0002166_altered_tumor_susceptibility1.42777563
61MP0004272_abnormal_basement_membrane1.40947855
62MP0000372_irregular_coat_pigmentation1.39956861
63MP0002078_abnormal_glucose_homeostasis1.39880506
64MP0001929_abnormal_gametogenesis1.39358277
65MP0001697_abnormal_embryo_size1.38376521
66MP0002160_abnormal_reproductive_system1.37569276
67MP0002084_abnormal_developmental_patter1.35375405
68MP0004043_abnormal_pH_regulation1.35243646
69MP0003566_abnormal_cell_adhesion1.32372922
70MP0003806_abnormal_nucleotide_metabolis1.30353044
71MP0003186_abnormal_redox_activity1.27870440
72MP0002085_abnormal_embryonic_tissue1.25770279
73MP0001672_abnormal_embryogenesis/_devel1.24982453
74MP0005380_embryogenesis_phenotype1.24982453
75MP0010368_abnormal_lymphatic_system1.23098361
76MP0001145_abnormal_male_reproductive1.22393327
77MP0003183_abnormal_peptide_metabolism1.22336113
78MP0001286_abnormal_eye_development1.21645386
79MP0010386_abnormal_urinary_bladder1.21176311
80MP0003121_genomic_imprinting1.20690631
81MP0005379_endocrine/exocrine_gland_phen1.20587328
82MP0003941_abnormal_skin_development1.20422263
83MP0000653_abnormal_sex_gland1.17535503
84MP0003943_abnormal_hepatobiliary_system1.14487438
85MP0003279_aneurysm1.14164316
86MP0002009_preneoplasia1.13190200
87MP0001270_distended_abdomen1.12821201
88MP0000313_abnormal_cell_death1.10264715
89MP0002138_abnormal_hepatobiliary_system1.06181001
90MP0003942_abnormal_urinary_system1.06109776
91MP0005076_abnormal_cell_differentiation1.04900925
92MP0005084_abnormal_gallbladder_morpholo1.04473927
93MP0002697_abnormal_eye_size1.03914121
94MP0000049_abnormal_middle_ear1.02535359
95MP0008007_abnormal_cellular_replicative1.02488970
96MP0002060_abnormal_skin_morphology1.02428894
97MP0006035_abnormal_mitochondrial_morpho1.02264222
98MP0002080_prenatal_lethality1.02207626
99MP0002102_abnormal_ear_morphology1.02037418
100MP0009384_cardiac_valve_regurgitation1.01158253
101MP0000428_abnormal_craniofacial_morphol1.01123784
102MP0002234_abnormal_pharynx_morphology1.00911221
103MP0000516_abnormal_urinary_system0.98313726
104MP0005367_renal/urinary_system_phenotyp0.98313726
105MP0005389_reproductive_system_phenotype0.97254808
106MP0000631_abnormal_neuroendocrine_gland0.97071693
107MP0004808_abnormal_hematopoietic_stem0.96340325
108MP0005391_vision/eye_phenotype0.95747228
109MP0001119_abnormal_female_reproductive0.95602006
110MP0000566_synostosis0.95147781
111MP0003045_fibrosis0.94356205
112MP0010307_abnormal_tumor_latency0.93364666
113MP0000358_abnormal_cell_content/0.92680775
114MP0005075_abnormal_melanosome_morpholog0.92310825
115MP0008961_abnormal_basal_metabolism0.91835079
116MP0001299_abnormal_eye_distance/0.91444540
117MP0003698_abnormal_male_reproductive0.91115476
118MP0004197_abnormal_fetal_growth/weight/0.91109549
119MP0005360_urolithiasis0.90014846
120MP0003315_abnormal_perineum_morphology0.89250826
121MP0005253_abnormal_eye_physiology0.88975045
122MP0001661_extended_life_span0.88622551
123MP0003755_abnormal_palate_morphology0.88521186
124MP0003959_abnormal_lean_body0.87584224
125MP0008875_abnormal_xenobiotic_pharmacok0.87265015
126MP0010329_abnormal_lipoprotein_level0.87148173
127MP0002396_abnormal_hematopoietic_system0.86904049
128MP0001764_abnormal_homeostasis0.86853965
129MP0009672_abnormal_birth_weight0.86030014
130MP0002092_abnormal_eye_morphology0.85921225
131MP0009643_abnormal_urine_homeostasis0.85314000
132MP0002177_abnormal_outer_ear0.84846013
133MP0002019_abnormal_tumor_incidence0.83330605
134MP0005375_adipose_tissue_phenotype0.82953953
135MP0003787_abnormal_imprinting0.82493467
136MP0000613_abnormal_salivary_gland0.81962098
137MP0002095_abnormal_skin_pigmentation0.81445817
138MP0000598_abnormal_liver_morphology0.81301185
139MP0001346_abnormal_lacrimal_gland0.81087427
140MP0003011_delayed_dark_adaptation0.80790880
141MP0000537_abnormal_urethra_morphology0.79905194
142MP0009053_abnormal_anal_canal0.79829420
143MP0000163_abnormal_cartilage_morphology0.78667775
144MP0005248_abnormal_Harderian_gland0.78199330
145MP0000534_abnormal_ureter_morphology0.77668033
146MP0005187_abnormal_penis_morphology0.77490380
147MP0002115_abnormal_skeleton_extremities0.77377163
148MP0009703_decreased_birth_body0.75410992
149MP0004233_abnormal_muscle_weight0.75344848
150MP0006036_abnormal_mitochondrial_physio0.75134999
151MP0003795_abnormal_bone_structure0.75065661
152MP0005408_hypopigmentation0.74859514
153MP0002086_abnormal_extraembryonic_tissu0.74237503
154MP0000609_abnormal_liver_physiology0.73883325
155MP0006072_abnormal_retinal_apoptosis0.73287042
156MP0004084_abnormal_cardiac_muscle0.71344365
157MP0002111_abnormal_tail_morphology0.70989561
158MP0002006_tumorigenesis0.70671136
159MP0001756_abnormal_urination0.69984068
160MP0005023_abnormal_wound_healing0.69699484
161MP0002163_abnormal_gland_morphology0.69625992
162MP0001188_hyperpigmentation0.68873479
163MP0002168_other_aberrant_phenotype0.68631331
164MP0002088_abnormal_embryonic_growth/wei0.68600857
165MP0003984_embryonic_growth_retardation0.67848204
166MP0000647_abnormal_sebaceous_gland0.67618052
167MP0003115_abnormal_respiratory_system0.67375148
168MP0003935_abnormal_craniofacial_develop0.66562011
169MP0001984_abnormal_olfaction0.66045244
170MP0003936_abnormal_reproductive_system0.65832643
171MP0002161_abnormal_fertility/fecundity0.65771658
172MP0003890_abnormal_embryonic-extraembry0.64546427
173MP0003953_abnormal_hormone_level0.63816181
174MP0003385_abnormal_body_wall0.63590306
175MP0004130_abnormal_muscle_cell0.63144439
176MP0003861_abnormal_nervous_system0.62849708
177MP0000266_abnormal_heart_morphology0.62440347
178MP0005319_abnormal_enzyme/_coenzyme0.61983096
179MP0004134_abnormal_chest_morphology0.61133443
180MP0005646_abnormal_pituitary_gland0.60053394
181MP0003693_abnormal_embryo_hatching0.59514039
182MP0004957_abnormal_blastocyst_morpholog0.59158368
183MP0003119_abnormal_digestive_system0.58837505

Predicted human phenotypes

RankGene SetZ-score
1Hypoglycemic coma (HP:0001325)5.24664923
2Hypoglycemic seizures (HP:0002173)4.83658134
3Hyperinsulinemic hypoglycemia (HP:0000825)4.55037165
4Chromosomal breakage induced by crosslinking agents (HP:0003221)4.03931776
5Chromsome breakage (HP:0040012)4.02492188
6Symptomatic seizures (HP:0011145)3.85714418
7Hyperglycemia (HP:0003074)3.84010930
8Elevated circulating parathyroid hormone (PTH) level (HP:0003165)3.75918500
9Pancreatic islet-cell hyperplasia (HP:0004510)3.72222902
10Abnormality of endocrine pancreas physiology (HP:0012093)3.69542637
11Abnormality of the pancreatic islet cells (HP:0006476)3.69542637
12Abnormality of the intrinsic pathway (HP:0010989)3.52675015
13Protrusio acetabuli (HP:0003179)3.51486340
14Reticulocytopenia (HP:0001896)3.51140709
15Abnormality of chromosome stability (HP:0003220)3.39863116
16Aplasia/Hypoplasia of the uvula (HP:0010293)3.37124721
17Meckel diverticulum (HP:0002245)3.28955984
18Insulin-resistant diabetes mellitus (HP:0000831)3.28844351
19Ketoacidosis (HP:0001993)3.14945922
20Abnormality of the ileum (HP:0001549)3.10347107
21Abnormality of the preputium (HP:0100587)2.93612494
22Medulloblastoma (HP:0002885)2.93610687
23Generalized aminoaciduria (HP:0002909)2.90319926
24Enlarged penis (HP:0000040)2.77287140
25Aortic aneurysm (HP:0004942)2.74755841
26Abnormal lung lobation (HP:0002101)2.74240786
27Abnormality of the common coagulation pathway (HP:0010990)2.73848536
28Increased hepatocellular lipid droplets (HP:0006565)2.71052634
29Rhabdomyosarcoma (HP:0002859)2.70697444
30Duodenal stenosis (HP:0100867)2.66746748
31Small intestinal stenosis (HP:0012848)2.66746748
32Cervical subluxation (HP:0003308)2.65951384
33Acute necrotizing encephalopathy (HP:0006965)2.59207827
34Acute encephalopathy (HP:0006846)2.58910863
35Insulin resistance (HP:0000855)2.56715372
36Thoracolumbar scoliosis (HP:0002944)2.55900398
37Late onset (HP:0003584)2.53879134
38Abnormality of cells of the erythroid lineage (HP:0012130)2.53066887
39Myelodysplasia (HP:0002863)2.52632063
40Renal cortical cysts (HP:0000803)2.52099269
41Short tibia (HP:0005736)2.48436834
42Hematochezia (HP:0002573)2.47492048
43Macrocytic anemia (HP:0001972)2.46894273
44Macroorchidism (HP:0000053)2.45899288
45Abnormality of the duodenum (HP:0002246)2.41047671
46Abnormality of aromatic amino acid family metabolism (HP:0004338)2.40686052
47Lymphangioma (HP:0100764)2.40528024
48Abnormal pancreas size (HP:0012094)2.40263340
49Abnormal foot bone ossification (HP:0010675)2.40012012
50Ketosis (HP:0001946)2.38818393
51Lipid accumulation in hepatocytes (HP:0006561)2.35300577
52Cortical dysplasia (HP:0002539)2.33184722
53Aneurysm (HP:0002617)2.32272491
54Triphalangeal thumb (HP:0001199)2.32110072
55Long toe (HP:0010511)2.31845370
56Abnormal mitochondria in muscle tissue (HP:0008316)2.30069142
57Abnormal biliary tract morphology (HP:0012440)2.29723851
58Sloping forehead (HP:0000340)2.29465026
59Exostoses (HP:0100777)2.28816458
60Nephroblastoma (Wilms tumor) (HP:0002667)2.28595547
61Ependymoma (HP:0002888)2.28225784
62Abnormality of the labia minora (HP:0012880)2.26970399
63Cerebral aneurysm (HP:0004944)2.26286484
64Hyperglycinemia (HP:0002154)2.25397972
65Abnormal number of erythroid precursors (HP:0012131)2.24548668
66Severe short stature (HP:0003510)2.21320378
67Increased CSF lactate (HP:0002490)2.21292746
68Aplasia/Hypoplasia of the sacrum (HP:0008517)2.20236653
69Aortic dissection (HP:0002647)2.20114482
70Abnormality of DNA repair (HP:0003254)2.18521605
71Abnormality of the metopic suture (HP:0005556)2.17060270
72Embryonal renal neoplasm (HP:0011794)2.16764437
73Abnormality of methionine metabolism (HP:0010901)2.16405851
74Intrahepatic cholestasis (HP:0001406)2.16182413
75Aplasia/Hypoplasia of the tibia (HP:0005772)2.16017546
76Bowel diverticulosis (HP:0005222)2.15005870
77Volvulus (HP:0002580)2.14762863
78Supernumerary spleens (HP:0009799)2.14637311
79Progressive macrocephaly (HP:0004481)2.14169177
80Short middle phalanx of the 5th finger (HP:0004220)2.12461318
81Increased serum pyruvate (HP:0003542)2.12240914
82Beaking of vertebral bodies (HP:0004568)2.11747505
83Hypoplastic pelvis (HP:0008839)2.11338162
84Neoplasm of the colon (HP:0100273)2.10485737
85Papillary thyroid carcinoma (HP:0002895)2.09512738
86Limb hypertonia (HP:0002509)2.07993788
87Birth length less than 3rd percentile (HP:0003561)2.07579684
88Microvesicular hepatic steatosis (HP:0001414)2.05817846
89Median cleft lip (HP:0000161)2.05752816
90Horseshoe kidney (HP:0000085)2.05501654
91Ankle contracture (HP:0006466)2.05097265
92Subacute progressive viral hepatitis (HP:0006572)2.05033847
93Mitochondrial inheritance (HP:0001427)2.00747376
94Bifid tongue (HP:0010297)2.00350465
95Septo-optic dysplasia (HP:0100842)1.98296352
96Missing ribs (HP:0000921)1.96909221
97Abnormality of calcium-phosphate metabolism (HP:0100530)1.96872741
98Rectal prolapse (HP:0002035)1.96661881
99Skin nodule (HP:0200036)1.96436012
100Premature rupture of membranes (HP:0001788)1.96157537
101Type I transferrin isoform profile (HP:0003642)1.95749435
102Cerebral edema (HP:0002181)1.94973398
103Metaphyseal cupping (HP:0003021)1.92275113
104Methylmalonic acidemia (HP:0002912)1.92120986
105Neoplasm of the rectum (HP:0100743)1.92001518
106Molar tooth sign on MRI (HP:0002419)1.91889837
107Abnormality of midbrain morphology (HP:0002418)1.91889837
108Neoplasm of the adrenal gland (HP:0100631)1.91488872
109Ectopic kidney (HP:0000086)1.90945297
110Medial flaring of the eyebrow (HP:0010747)1.89993060
111Abnormality of the carotid arteries (HP:0005344)1.89228603
112Small hand (HP:0200055)1.88760325
113Abnormality of glycolysis (HP:0004366)1.86776377
114Asymmetry of the thorax (HP:0001555)1.86691591
115Degeneration of anterior horn cells (HP:0002398)1.86371840
116Abnormality of the anterior horn cell (HP:0006802)1.86371840
117Biconcave vertebral bodies (HP:0004586)1.86001125
118Growth hormone excess (HP:0000845)1.85905271
119Mucopolysacchariduria (HP:0008155)1.85736320
120Urinary glycosaminoglycan excretion (HP:0003541)1.85736320
121Microglossia (HP:0000171)1.85494010
122Neoplasm of the small intestine (HP:0100833)1.85345225
123Abnormality of dentin (HP:0010299)1.85035662
124Aplastic anemia (HP:0001915)1.84889131
125Absent thumb (HP:0009777)1.84386781
126Agitation (HP:0000713)1.83981627
127Glioma (HP:0009733)1.83518626
128Abnormal tarsal ossification (HP:0008369)1.83084806
129Syringomyelia (HP:0003396)1.83038655
130Spinal cord lesions (HP:0100561)1.83038655
131Overlapping toe (HP:0001845)1.82185015
132Pancreatic fibrosis (HP:0100732)1.81980815
133Biliary tract neoplasm (HP:0100574)1.81950203
134Platyspondyly (HP:0000926)1.81049570
135Testicular neoplasm (HP:0010788)1.80462963
136Increased serum lactate (HP:0002151)1.80215554
137Arteriovenous malformation (HP:0100026)1.80027640
138Hepatic necrosis (HP:0002605)1.80003833
139Hand muscle atrophy (HP:0009130)1.79998395
140Abnormality of aspartate family amino acid metabolism (HP:0010899)1.79578288
141Intestinal polyposis (HP:0200008)1.79517954
142Clubbing of toes (HP:0100760)1.78137092
143Conjunctival hamartoma (HP:0100780)1.77155728
144Soft skin (HP:0000977)1.76675498
145True hermaphroditism (HP:0010459)1.76183202
146Large for gestational age (HP:0001520)1.75142637
147Mitral valve prolapse (HP:0001634)1.74764430
148Abnormality of monocarboxylic acid metabolism (HP:0010996)1.74605646
149Myoglobinuria (HP:0002913)1.74129894
150Abnormal cartilage morphology (HP:0002763)1.73954663
151Combined immunodeficiency (HP:0005387)1.73915232
152Hepatoblastoma (HP:0002884)1.73892980
153Abnormal protein N-linked glycosylation (HP:0012347)1.73169733
154Abnormal protein glycosylation (HP:0012346)1.73169733
155Abnormal glycosylation (HP:0012345)1.73169733
156Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.73169733
157Deep venous thrombosis (HP:0002625)1.73057811
158Dilatation of the ascending aorta (HP:0005111)1.72912181
159Hypoplastic ischia (HP:0003175)1.72903931
160Abnormality of the calcaneus (HP:0008364)1.72786818
161Colon cancer (HP:0003003)1.72722924
162Aplasia/Hypoplasia of the tongue (HP:0010295)1.71123374
163Protuberant abdomen (HP:0001538)1.70986853
164Epiphyseal dysplasia (HP:0002656)1.69734275
165Hypobetalipoproteinemia (HP:0003563)1.69484197
166Congenital primary aphakia (HP:0007707)1.68669696
167Thyroid carcinoma (HP:0002890)1.68174459
168Severe combined immunodeficiency (HP:0004430)1.68096877
169Increased nuchal translucency (HP:0010880)1.67970583
170Truncal obesity (HP:0001956)1.67600389
171Intestinal polyp (HP:0005266)1.67517781
172Papilledema (HP:0001085)1.67329793
173Striae distensae (HP:0001065)1.67304859
174Gonadotropin excess (HP:0000837)1.67147697
175Neoplasm of striated muscle (HP:0009728)1.66905138
176Pancreatic cysts (HP:0001737)1.66629147
177B lymphocytopenia (HP:0010976)1.66433294
178Prominent metopic ridge (HP:0005487)1.66135716
179Back pain (HP:0003418)1.65936201
180Abnormality of the phalanges of the 5th finger (HP:0004213)1.65894057
181Postnatal microcephaly (HP:0005484)1.65700295
182Mitral stenosis (HP:0001718)1.65283302
183Pancytopenia (HP:0001876)1.64656245
184Broad palm (HP:0001169)1.64401748
185Nephronophthisis (HP:0000090)1.64009592
186Thrombocytosis (HP:0001894)1.63595435
187Abnormality of the middle phalanx of the 5th finger (HP:0004219)1.62827679
188Spondylolisthesis (HP:0003302)1.62825811
189Neoplasm of the adrenal cortex (HP:0100641)1.62659392
190Abnormality of the acetabulum (HP:0003170)1.62571501
191Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.61625476
192Flattened epiphyses (HP:0003071)1.61453197
193Hamartoma of the eye (HP:0010568)1.61379828
194Mildly elevated creatine phosphokinase (HP:0008180)1.61277588

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK5.07301396
2PASK4.16389663
3INSRR3.87927756
4BUB13.71930633
5CDK193.66619391
6TRIB33.23478957
7SRPK13.19698322
8PKN23.07982237
9VRK22.99898603
10FLT32.94416603
11PLK42.91224058
12TTK2.83183145
13TAF12.66395763
14WEE12.64618075
15EPHA32.59201947
16ERN12.46729480
17TGFBR12.39418709
18MKNK12.31596300
19TAOK32.27186794
20LATS12.25184739
21PBK2.22338181
22MAP4K22.20806241
23SCYL22.08449012
24PDGFRA1.99867643
25STK161.94739779
26PTK61.94116123
27EIF2AK11.91194319
28BRSK21.90023169
29MAP3K21.87399769
30SIK11.85319738
31BCKDK1.79011378
32FGFR31.71151342
33VRK11.68840961
34PLK11.66344621
35RIPK11.66186806
36AKT31.53211215
37PNCK1.51728248
38BRD41.49264162
39CHEK21.42714712
40FGFR41.39961622
41MAP3K101.36271631
42NUAK11.32819096
43MAP3K121.25495544
44FGFR21.20632747
45MAP3K31.19813547
46MKNK21.18798470
47MST41.18236420
48DDR21.15083190
49HIPK21.09919797
50PLK21.08263038
51MAPK151.06663818
52NEK91.06440724
53PIK3CG1.05090753
54TGFBR21.04599459
55JAK31.04557802
56PAK41.03929862
57PDK41.01148743
58PDK31.01148743
59NME20.99917800
60STK38L0.99174133
61CHEK10.98926066
62ERBB30.98907067
63TIE10.97970362
64EIF2AK20.96501408
65ACVR1B0.96406563
66EEF2K0.89445407
67TTN0.89388934
68JAK10.87323917
69RET0.85687138
70RAF10.85581205
71NEK10.84949675
72TRIM280.84674170
73ZAP700.83393792
74PTK20.82871152
75FGFR10.82730658
76PRKCH0.82688232
77CDK60.81268368
78EIF2AK30.79443175
79PRKD30.79080362
80CDK70.78680780
81MAP2K30.78555626
82TEC0.78324085
83RPS6KB10.76887233
84FER0.76716455
85MAP3K40.76659588
86RPS6KA40.74368104
87TSSK60.72440244
88PAK30.72388603
89CAMKK20.72142231
90PIK3CA0.71804461
91AURKA0.70351253
92CSNK1G10.69742250
93PDGFRB0.68025114
94KDR0.67959666
95BRAF0.67548598
96CSNK2A20.67129427
97TNIK0.65425810
98PAK20.64156256
99MAP2K70.63962057
100MYLK0.63143672
101STK30.61505594
102JAK20.61092242
103DYRK20.60903677
104STK40.60055185
105DYRK1B0.58737107
106CSNK2A10.54574296
107RPS6KB20.53069540
108MAP3K10.52846123
109NME10.52248609
110CDK10.51357635
111MTOR0.50907247
112CSNK1E0.50864213
113WNK30.50499377
114CDK20.49819783
115ILK0.49764468
116NLK0.49464394
117MAPKAPK50.49322527
118ITK0.48048320
119CSNK1G30.47998496
120ATR0.45955273
121CDK30.45529410
122BCR0.45360481
123STK240.44998260
124CDK80.44772878
125LRRK20.43696918
126CDC42BPA0.42919667
127IGF1R0.40807865
128ZAK0.40225657
129MAPK110.38500206
130WNK40.38303480
131MELK0.38195584
132CHUK0.37675514
133RPS6KA50.37236254
134CSNK1G20.36338617
135PRKAA10.35497519
136MAP2K10.34810082
137MET0.33314892
138CDC70.33271982
139AURKB0.32486823
140KIT0.32265208
141BMPR1B0.31147306
142TYK20.30827960
143NEK20.30769765
144CDK40.30637055
145ATM0.30376263
146BRSK10.30146122
147PRKDC0.29190701
148PLK30.28955347
149MAP3K80.28545186
150KSR10.26966862
151PDK20.26433369
152CCNB10.25288029
153CDK90.24431368
154DAPK10.23204032
155CLK10.21861055
156BMPR20.21828789
157PRKCI0.20424503
158CSNK1A1L0.20338082
159PAK10.18152045
160CDK11A0.17215855

Predicted pathways (KEGG)

RankGene SetZ-score
1Maturity onset diabetes of the young_Homo sapiens_hsa049506.44244098
2Protein export_Homo sapiens_hsa030604.80682410
3Mismatch repair_Homo sapiens_hsa034304.13163719
4DNA replication_Homo sapiens_hsa030304.07509537
5Protein processing in endoplasmic reticulum_Homo sapiens_hsa041414.02216710
6Ribosome_Homo sapiens_hsa030103.52798898
7Proteasome_Homo sapiens_hsa030503.34850814
8Homologous recombination_Homo sapiens_hsa034403.26518351
9Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.24718865
10Non-homologous end-joining_Homo sapiens_hsa034503.04859702
11Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.00712582
12Selenocompound metabolism_Homo sapiens_hsa004502.88393831
13Nucleotide excision repair_Homo sapiens_hsa034202.85069355
14Fanconi anemia pathway_Homo sapiens_hsa034602.82696649
15Base excision repair_Homo sapiens_hsa034102.72302861
16Spliceosome_Homo sapiens_hsa030402.64601914
17Sulfur metabolism_Homo sapiens_hsa009202.29085138
18N-Glycan biosynthesis_Homo sapiens_hsa005102.28961569
19RNA polymerase_Homo sapiens_hsa030202.27060383
20Basal transcription factors_Homo sapiens_hsa030222.20717487
21Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.96761837
22Oxidative phosphorylation_Homo sapiens_hsa001901.88215628
23Parkinsons disease_Homo sapiens_hsa050121.75500099
24Fatty acid degradation_Homo sapiens_hsa000711.71284315
25Pyrimidine metabolism_Homo sapiens_hsa002401.65319240
26Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.62819557
27Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.59214669
28Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.57792999
29Insulin resistance_Homo sapiens_hsa049311.55917666
30Insulin secretion_Homo sapiens_hsa049111.50162684
31Protein digestion and absorption_Homo sapiens_hsa049741.45690004
32Propanoate metabolism_Homo sapiens_hsa006401.45252306
33Caffeine metabolism_Homo sapiens_hsa002321.42891339
34Tryptophan metabolism_Homo sapiens_hsa003801.42712157
35Huntingtons disease_Homo sapiens_hsa050161.40731127
36Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.40204615
37Lysine degradation_Homo sapiens_hsa003101.40060188
38Starch and sucrose metabolism_Homo sapiens_hsa005001.39826383
39Primary bile acid biosynthesis_Homo sapiens_hsa001201.39099882
40Glucagon signaling pathway_Homo sapiens_hsa049221.34059776
41mTOR signaling pathway_Homo sapiens_hsa041501.32308391
42Type II diabetes mellitus_Homo sapiens_hsa049301.29748656
43Purine metabolism_Homo sapiens_hsa002301.26288192
44Cysteine and methionine metabolism_Homo sapiens_hsa002701.15275496
45Vibrio cholerae infection_Homo sapiens_hsa051101.14652633
46Fatty acid elongation_Homo sapiens_hsa000621.12747302
47Galactose metabolism_Homo sapiens_hsa000521.10808625
48Pyruvate metabolism_Homo sapiens_hsa006201.09060984
49Thyroid cancer_Homo sapiens_hsa052161.06262461
50Focal adhesion_Homo sapiens_hsa045101.05179318
51Type I diabetes mellitus_Homo sapiens_hsa049401.03054517
52Glycosaminoglycan degradation_Homo sapiens_hsa005311.00413149
53Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.97629986
54Folate biosynthesis_Homo sapiens_hsa007900.97577304
55Carbohydrate digestion and absorption_Homo sapiens_hsa049730.96942063
56Steroid biosynthesis_Homo sapiens_hsa001000.95229478
57Oocyte meiosis_Homo sapiens_hsa041140.95057293
58Antigen processing and presentation_Homo sapiens_hsa046120.94984496
59Drug metabolism - other enzymes_Homo sapiens_hsa009830.93468649
60ECM-receptor interaction_Homo sapiens_hsa045120.93395219
61One carbon pool by folate_Homo sapiens_hsa006700.92152665
62Thyroid hormone synthesis_Homo sapiens_hsa049180.91506706
63Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.90657763
64Alzheimers disease_Homo sapiens_hsa050100.87496032
65Central carbon metabolism in cancer_Homo sapiens_hsa052300.87413695
66Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.84846827
672-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.82683641
68Fat digestion and absorption_Homo sapiens_hsa049750.82134900
69Fatty acid metabolism_Homo sapiens_hsa012120.81279208
70Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.81072940
71Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.80832094
72Insulin signaling pathway_Homo sapiens_hsa049100.79925590
73Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.79015632
74Carbon metabolism_Homo sapiens_hsa012000.78080386
75Legionellosis_Homo sapiens_hsa051340.77248004
76Adherens junction_Homo sapiens_hsa045200.74779209
77Prostate cancer_Homo sapiens_hsa052150.74613843
78Chronic myeloid leukemia_Homo sapiens_hsa052200.72109031
79Prolactin signaling pathway_Homo sapiens_hsa049170.71324985
80Endometrial cancer_Homo sapiens_hsa052130.70624257
81Pancreatic secretion_Homo sapiens_hsa049720.69496637
82Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.67512010
83AMPK signaling pathway_Homo sapiens_hsa041520.66797246
84Circadian rhythm_Homo sapiens_hsa047100.65172036
85Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.65134071
86Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.64226360
87Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.63492626
88Systemic lupus erythematosus_Homo sapiens_hsa053220.63282839
89Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.61598354
90ABC transporters_Homo sapiens_hsa020100.61496809
91Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.60151679
92Phototransduction_Homo sapiens_hsa047440.58966261
93FoxO signaling pathway_Homo sapiens_hsa040680.57736712
94Longevity regulating pathway - mammal_Homo sapiens_hsa042110.57692923
95Butanoate metabolism_Homo sapiens_hsa006500.57606960
96Cell cycle_Homo sapiens_hsa041100.56967953
97Regulation of autophagy_Homo sapiens_hsa041400.56864349
98Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.56565432
99Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.55658814
100Bladder cancer_Homo sapiens_hsa052190.55078771
101Biosynthesis of amino acids_Homo sapiens_hsa012300.54109970
102Pentose and glucuronate interconversions_Homo sapiens_hsa000400.53944585
103Glutathione metabolism_Homo sapiens_hsa004800.53499216
104TGF-beta signaling pathway_Homo sapiens_hsa043500.53042922
105Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.51982842
106Metabolic pathways_Homo sapiens_hsa011000.51026805
107Small cell lung cancer_Homo sapiens_hsa052220.50676958
108Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.50668335
109Viral carcinogenesis_Homo sapiens_hsa052030.50630802
110Proteoglycans in cancer_Homo sapiens_hsa052050.48948479
111Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.48656312
112Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.48135322
113PI3K-Akt signaling pathway_Homo sapiens_hsa041510.46185856
114Vitamin B6 metabolism_Homo sapiens_hsa007500.46096369
115Complement and coagulation cascades_Homo sapiens_hsa046100.44370467
116Basal cell carcinoma_Homo sapiens_hsa052170.43120107
117Pancreatic cancer_Homo sapiens_hsa052120.43000692
118SNARE interactions in vesicular transport_Homo sapiens_hsa041300.42817260
119Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.41772218
120Alcoholism_Homo sapiens_hsa050340.41616037
121Hedgehog signaling pathway_Homo sapiens_hsa043400.40982775
122RNA degradation_Homo sapiens_hsa030180.40771721
123RNA transport_Homo sapiens_hsa030130.40104998
124Epstein-Barr virus infection_Homo sapiens_hsa051690.39712248
125Renin-angiotensin system_Homo sapiens_hsa046140.38854892
126mRNA surveillance pathway_Homo sapiens_hsa030150.38307166
127Estrogen signaling pathway_Homo sapiens_hsa049150.37999271
128Phenylalanine metabolism_Homo sapiens_hsa003600.37934451
129cGMP-PKG signaling pathway_Homo sapiens_hsa040220.37836509
130HTLV-I infection_Homo sapiens_hsa051660.37517886
131Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.37361868
132Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.36932634
133Cardiac muscle contraction_Homo sapiens_hsa042600.34718756
134PPAR signaling pathway_Homo sapiens_hsa033200.33554176
135p53 signaling pathway_Homo sapiens_hsa041150.33469228
136Platelet activation_Homo sapiens_hsa046110.33093542
137Amoebiasis_Homo sapiens_hsa051460.32929183
138Aldosterone synthesis and secretion_Homo sapiens_hsa049250.32894871
139Prion diseases_Homo sapiens_hsa050200.32843613
140Primary immunodeficiency_Homo sapiens_hsa053400.32588050
141Peroxisome_Homo sapiens_hsa041460.31923087
142Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.30860984
143Glioma_Homo sapiens_hsa052140.30015539
144Pentose phosphate pathway_Homo sapiens_hsa000300.27530301
145Wnt signaling pathway_Homo sapiens_hsa043100.26564310
146Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.21466745
147Transcriptional misregulation in cancer_Homo sapiens_hsa052020.19688263
148Hippo signaling pathway_Homo sapiens_hsa043900.16798907
149Herpes simplex infection_Homo sapiens_hsa051680.16001994
150Sulfur relay system_Homo sapiens_hsa041220.12921669
151MicroRNAs in cancer_Homo sapiens_hsa052060.11312781
152Colorectal cancer_Homo sapiens_hsa052100.10737866
153Asthma_Homo sapiens_hsa053100.07660651
154Olfactory transduction_Homo sapiens_hsa047400.05409722
155Arginine and proline metabolism_Homo sapiens_hsa003300.00940191
156Nitrogen metabolism_Homo sapiens_hsa009100.00482284
157Melanoma_Homo sapiens_hsa052180.00169918
158Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040-0.0344621

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