WDR45B

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





Description: This gene encodes a member of the WIPI or SVP1 family of WD40 repeat-containing proteins. The protein contains seven WD40 repeats that are thought to fold into a beta-propeller structure that mediates protein-protein interactions, and a conserved motif for interaction with phospholipids. The human genome contains several pseudogenes of this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1COPI coating of Golgi vesicle (GO:0048205)6.61481142
2Golgi transport vesicle coating (GO:0048200)6.61481142
3maturation of SSU-rRNA (GO:0030490)5.70972769
4protein retention in ER lumen (GO:0006621)5.48402005
5maintenance of protein localization in endoplasmic reticulum (GO:0035437)5.45596082
6transcription elongation from RNA polymerase III promoter (GO:0006385)5.28360981
7termination of RNA polymerase III transcription (GO:0006386)5.28360981
8ribosomal small subunit biogenesis (GO:0042274)5.23165906
9termination of RNA polymerase I transcription (GO:0006363)5.11501574
10transcription elongation from RNA polymerase I promoter (GO:0006362)4.98931290
117-methylguanosine mRNA capping (GO:0006370)4.76187412
12retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)4.67576306
13RNA capping (GO:0036260)4.65528417
147-methylguanosine RNA capping (GO:0009452)4.65528417
15transcription from RNA polymerase I promoter (GO:0006360)4.47133000
16proline biosynthetic process (GO:0006561)4.45394036
17proteasome assembly (GO:0043248)4.42985955
18ribosomal small subunit assembly (GO:0000028)4.38906139
19transcription initiation from RNA polymerase I promoter (GO:0006361)4.33756866
20ribosomal large subunit biogenesis (GO:0042273)4.33206944
21viral transcription (GO:0019083)4.24208716
22translational termination (GO:0006415)4.13343821
23establishment of protein localization to mitochondrial membrane (GO:0090151)4.03364678
24cotranslational protein targeting to membrane (GO:0006613)3.94540526
25ribonucleoprotein complex biogenesis (GO:0022613)3.93186407
26SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.90095600
27protein targeting to ER (GO:0045047)3.87686673
28protein neddylation (GO:0045116)3.82975725
29rRNA modification (GO:0000154)3.74746207
30protein localization to endoplasmic reticulum (GO:0070972)3.73817229
31negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.73425899
32establishment of protein localization to endoplasmic reticulum (GO:0072599)3.70510721
33protein localization to endosome (GO:0036010)3.69570303
34peptidyl-arginine omega-N-methylation (GO:0035247)3.67162327
35protein maturation by protein folding (GO:0022417)3.65652461
36positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.64444978
37spliceosomal snRNP assembly (GO:0000387)3.63482277
38transcription-coupled nucleotide-excision repair (GO:0006283)3.62989124
39translational elongation (GO:0006414)3.61017812
40establishment of integrated proviral latency (GO:0075713)3.58774570
41planar cell polarity pathway involved in neural tube closure (GO:0090179)3.58575257
42ribosome assembly (GO:0042255)3.57917656
43transcription elongation from RNA polymerase II promoter (GO:0006368)3.56630700
44DNA-templated transcription, elongation (GO:0006354)3.56515030
45regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.56489737
46anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.55610059
47mitotic metaphase plate congression (GO:0007080)3.54903117
48translation (GO:0006412)3.54820939
49rRNA processing (GO:0006364)3.54646188
50spliceosomal complex assembly (GO:0000245)3.52095632
51translational initiation (GO:0006413)3.51235362
52positive regulation of viral transcription (GO:0050434)3.50871149
53negative regulation of ligase activity (GO:0051352)3.49397470
54negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.49397470
55DNA damage response, detection of DNA damage (GO:0042769)3.44458332
56barbed-end actin filament capping (GO:0051016)3.42569647
57viral life cycle (GO:0019058)3.39437900
58L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.39338592
59regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.39055498
60rRNA metabolic process (GO:0016072)3.38942965
61regulation of mammary gland epithelial cell proliferation (GO:0033599)3.35460285
62chaperone-mediated protein transport (GO:0072321)3.35088876
63cytoskeletal anchoring at plasma membrane (GO:0007016)3.34463659
64protein targeting to mitochondrion (GO:0006626)3.34316087
65ribosome biogenesis (GO:0042254)3.33714509
66cellular protein complex disassembly (GO:0043624)3.33236620
67establishment of protein localization to mitochondrion (GO:0072655)3.30416328
68cellular component biogenesis (GO:0044085)3.29991461
69blastocyst development (GO:0001824)3.27535910
70positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.26602254
71peptidyl-proline hydroxylation (GO:0019511)3.23734562
72skin morphogenesis (GO:0043589)3.23684383
73metaphase plate congression (GO:0051310)3.21703364
74desmosome organization (GO:0002934)3.21337764
75vesicle coating (GO:0006901)3.21235428
76establishment of viral latency (GO:0019043)3.20720548
77CENP-A containing nucleosome assembly (GO:0034080)3.20289121
78establishment of apical/basal cell polarity (GO:0035089)3.19958548
79activation of signaling protein activity involved in unfolded protein response (GO:0006987)3.19912034
80positive regulation of ligase activity (GO:0051351)3.19278171
81GTP biosynthetic process (GO:0006183)3.18837391
82nucleobase biosynthetic process (GO:0046112)3.17283156
83rRNA methylation (GO:0031167)3.16993375
84guanosine-containing compound biosynthetic process (GO:1901070)3.16534130
85positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:003603.14426285
86nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.14203075
87positive regulation of protein homodimerization activity (GO:0090073)3.13308927
88mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.13237825
89nuclear envelope reassembly (GO:0031468)3.11932321
90mitotic nuclear envelope reassembly (GO:0007084)3.11932321
91purine nucleobase biosynthetic process (GO:0009113)3.11732958
92positive regulation of nuclease activity (GO:0032075)3.10807608
93DNA integration (GO:0015074)3.09941823
94DNA replication checkpoint (GO:0000076)3.09659295
95proline metabolic process (GO:0006560)3.08837427
96adherens junction assembly (GO:0034333)3.08516342
97protein hydroxylation (GO:0018126)3.08267176
98spliceosomal tri-snRNP complex assembly (GO:0000244)3.08168653
99regulation of cellular amino acid metabolic process (GO:0006521)3.07905061
100protein K6-linked ubiquitination (GO:0085020)3.07359876
101ATP synthesis coupled proton transport (GO:0015986)3.07357988
102energy coupled proton transport, down electrochemical gradient (GO:0015985)3.07357988
103peptidyl-histidine modification (GO:0018202)3.06816656
104chromatin remodeling at centromere (GO:0031055)3.06402213
105pseudouridine synthesis (GO:0001522)3.05946466
106mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.05356333
1074-hydroxyproline metabolic process (GO:0019471)3.05151615
108epithelial cell-cell adhesion (GO:0090136)3.04505024
109regulation of spindle organization (GO:0090224)3.04108815
110cellular copper ion homeostasis (GO:0006878)3.03490585
111histone arginine methylation (GO:0034969)3.03122486
112peptidyl-arginine methylation (GO:0018216)3.02296492
113peptidyl-arginine N-methylation (GO:0035246)3.02296492
114cullin deneddylation (GO:0010388)3.02210577
115endoplasmic reticulum unfolded protein response (GO:0030968)3.01470190
116positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)3.01368217
117regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)3.00215209
118amino acid salvage (GO:0043102)2.99706059
119L-methionine salvage (GO:0071267)2.99706059
120L-methionine biosynthetic process (GO:0071265)2.99706059
121protein complex localization (GO:0031503)2.99689055
122formation of translation preinitiation complex (GO:0001731)2.98696192
123DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.96886952
124protein-cofactor linkage (GO:0018065)2.95347725
125axon ensheathment in central nervous system (GO:0032291)2.94915297
126central nervous system myelination (GO:0022010)2.94915297
127regulation of ubiquitin-protein transferase activity (GO:0051438)2.94542730
128signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.93133978
129signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.93133978
130signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.93133978
131UTP biosynthetic process (GO:0006228)2.91353230
132mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)2.90913217
133positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:19021102.90913217
134basement membrane organization (GO:0071711)2.90868284
135COPII vesicle coating (GO:0048208)2.90567423
136paraxial mesoderm development (GO:0048339)2.90506383
137DNA-templated transcription, termination (GO:0006353)2.90037065
138regulation of ligase activity (GO:0051340)2.89836411
139protein K11-linked ubiquitination (GO:0070979)2.89095026
140dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.89052744
141DNA unwinding involved in DNA replication (GO:0006268)2.88347897
142ER-nucleus signaling pathway (GO:0006984)2.87557154
143intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.87412229
144cellular response to unfolded protein (GO:0034620)2.80058245
145regulation of translational fidelity (GO:0006450)2.79230869
146epithelial cell differentiation involved in prostate gland development (GO:0060742)2.72287119
147regulation of nuclease activity (GO:0032069)2.70653884
148cell-substrate adherens junction assembly (GO:0007045)2.67540598
149focal adhesion assembly (GO:0048041)2.67540598
150cellular protein complex localization (GO:0034629)2.63540351
151regulation of early endosome to late endosome transport (GO:2000641)2.63274426
152glucose 6-phosphate metabolic process (GO:0051156)2.63145632
153cellular response to topologically incorrect protein (GO:0035967)2.62413692
154embryo implantation (GO:0007566)2.62195584
155negative regulation of chondrocyte differentiation (GO:0032331)2.61378222
156cell adhesion mediated by integrin (GO:0033627)2.58678072
157mitotic chromosome condensation (GO:0007076)2.57636404
158negative regulation of cell size (GO:0045792)2.55636535
159pentose-phosphate shunt (GO:0006098)2.53845182
160muscle cell migration (GO:0014812)2.51262796
161establishment or maintenance of bipolar cell polarity (GO:0061245)2.50851198
162establishment or maintenance of apical/basal cell polarity (GO:0035088)2.50851198
163glycolytic process (GO:0006096)2.50259542
164regulation of glucose import in response to insulin stimulus (GO:2001273)2.49088726
165regulation of cholesterol biosynthetic process (GO:0045540)2.47692447
166positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling2.45054307
167glucose catabolic process (GO:0006007)2.42700624
168cell-substrate junction assembly (GO:0007044)2.42457537
169regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:00432.42313942
170hemidesmosome assembly (GO:0031581)2.40369003
171maternal placenta development (GO:0001893)2.40172573
172semaphorin-plexin signaling pathway (GO:0071526)2.39353297
173activation of Rac GTPase activity (GO:0032863)2.38864464
174layer formation in cerebral cortex (GO:0021819)2.37218077
175Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.36397515
176protein insertion into membrane (GO:0051205)2.35507052
177glutamine family amino acid biosynthetic process (GO:0009084)2.34727870
178stress fiber assembly (GO:0043149)2.33898674
179regulation of translational termination (GO:0006449)2.33300638
180branching involved in mammary gland duct morphogenesis (GO:0060444)2.32477997
181NADPH regeneration (GO:0006740)2.30628048
182amyloid precursor protein catabolic process (GO:0042987)2.30354163
183regulation of establishment of planar polarity (GO:0090175)2.29827998
184negative regulation of mRNA splicing, via spliceosome (GO:0048025)2.29339056
185cochlea morphogenesis (GO:0090103)2.29278945
186establishment or maintenance of monopolar cell polarity (GO:0061339)2.28943014
187establishment of monopolar cell polarity (GO:0061162)2.28943014
188histone H2B ubiquitination (GO:0033523)2.27862441
189positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)2.27206277
190regulation of epidermal growth factor-activated receptor activity (GO:0007176)2.26375006
191maintenance of protein localization in organelle (GO:0072595)2.26329608
192RNA localization (GO:0006403)2.25056393
193response to endoplasmic reticulum stress (GO:0034976)2.24883589
194lung epithelium development (GO:0060428)2.24473101
195nucleobase-containing small molecule interconversion (GO:0015949)2.23767869
196response to unfolded protein (GO:0006986)2.22632863
197hyperosmotic salinity response (GO:0042538)2.22336508
198mitochondrial fragmentation involved in apoptotic process (GO:0043653)2.22265334

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.99690514
2E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.61859021
3GABP_17652178_ChIP-ChIP_JURKAT_Human4.13676244
4SOX9_22984422_ChIP-ChIP_TESTIS_Rat4.08964403
5MYC_18555785_ChIP-Seq_MESCs_Mouse4.01178550
6CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human3.96733871
7JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.84679729
8EST1_17652178_ChIP-ChIP_JURKAT_Human3.81155314
9ETS1_20019798_ChIP-Seq_JURKAT_Human3.61140473
10CREB1_15753290_ChIP-ChIP_HEK293T_Human3.41968930
11CHD1_19587682_ChIP-ChIP_MESCs_Mouse3.15721514
12TP63_17297297_ChIP-ChIP_HaCaT_Human3.13636949
13MYC_19079543_ChIP-ChIP_MESCs_Mouse2.90822787
14HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.88984280
15NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.82289923
16HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.79098170
17ZNF263_19887448_ChIP-Seq_K562_Human2.74481987
18MYC_19030024_ChIP-ChIP_MESCs_Mouse2.64871663
19MYC_18358816_ChIP-ChIP_MESCs_Mouse2.64322125
20CLOCK_20551151_ChIP-Seq_293T_Human2.62754222
21RARG_19884340_ChIP-ChIP_MEFs_Mouse2.47971751
22NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.46597438
23KLF5_18264089_ChIP-ChIP_MESCs_Mouse2.43734695
24KLF4_18264089_ChIP-ChIP_MESCs_Mouse2.43734695
25KLF2_18264089_ChIP-ChIP_MESCs_Mouse2.43734695
26VDR_23849224_ChIP-Seq_CD4+_Human2.41359347
27TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.29603137
28ZFP281_18358816_ChIP-ChIP_MESCs_Mouse2.21744373
29TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.16423098
30E2F4_17652178_ChIP-ChIP_JURKAT_Human2.09895786
31XRN2_22483619_ChIP-Seq_HELA_Human2.06270201
32NELFA_20434984_ChIP-Seq_ESCs_Mouse2.05259325
33ELK1_19687146_ChIP-ChIP_HELA_Human2.03724941
34E2F7_22180533_ChIP-Seq_HELA_Human2.03174398
35PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.01146371
36E2F1_18555785_ChIP-Seq_MESCs_Mouse2.00117167
37DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.99115942
38HIF1A_21447827_ChIP-Seq_MCF-7_Human1.98535204
39FOXP3_21729870_ChIP-Seq_TREG_Human1.98475482
40DCP1A_22483619_ChIP-Seq_HELA_Human1.97480608
41THAP11_20581084_ChIP-Seq_MESCs_Mouse1.96948043
42ELK3_25401928_ChIP-Seq_HUVEC_Human1.96038247
43POU5F1_16153702_ChIP-ChIP_HESCs_Human1.95515315
44RACK7_27058665_Chip-Seq_MCF-7_Human1.95422247
45LXR_22292898_ChIP-Seq_THP-1_Human1.84477054
46MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.83968023
47CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.83950037
48EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.83048917
49TTF2_22483619_ChIP-Seq_HELA_Human1.81929196
50HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.81809481
51FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.80030684
52TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.79573786
53YY1_21170310_ChIP-Seq_MESCs_Mouse1.77216363
54ELF1_17652178_ChIP-ChIP_JURKAT_Human1.74695974
55ELK1_22589737_ChIP-Seq_MCF10A_Human1.73898626
56ESR2_21235772_ChIP-Seq_MCF-7_Human1.73867233
57ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.73333772
58KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.73272912
59POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.72401770
60NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.71058258
61SRF_21415370_ChIP-Seq_HL-1_Mouse1.70742189
62NANOG_18555785_ChIP-Seq_MESCs_Mouse1.67745106
63TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.66963415
64POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.65622860
65THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.64496983
66GABP_19822575_ChIP-Seq_HepG2_Human1.64476357
67ZFP281_18757296_ChIP-ChIP_E14_Mouse1.64277132
68KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.64100691
69SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.63923033
70PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.63167010
71KLF4_18555785_ChIP-Seq_MESCs_Mouse1.61785929
72FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.58536700
73WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.56649649
74MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.56539617
75RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.55374505
76CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.54351354
77TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.52756387
78MYCN_18555785_ChIP-Seq_MESCs_Mouse1.52389495
79SRY_22984422_ChIP-ChIP_TESTIS_Rat1.50594338
80ATF3_27146783_Chip-Seq_COLON_Human1.50514236
81KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.49846021
82MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.49639085
83HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.49456191
84TRIM28_21343339_ChIP-Seq_HEK293_Human1.44318335
85ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.43462073
86KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.43254672
87ESR1_21235772_ChIP-Seq_MCF-7_Human1.42243932
88KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.41073395
89ESR1_15608294_ChIP-ChIP_MCF-7_Human1.39667510
90SOX2_18555785_ChIP-Seq_MESCs_Mouse1.39236101
91P300_27058665_Chip-Seq_ZR-75-30cells_Human1.39224675
92TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.37939376
93PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.37223809
94EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.37120649
95ERG_21242973_ChIP-ChIP_JURKAT_Human1.34951992
96KDM2B_26808549_Chip-Seq_SUP-B15_Human1.33164448
97NOTCH1_21737748_ChIP-Seq_TLL_Human1.32008280
98UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.31240889
99TET1_21451524_ChIP-Seq_MESCs_Mouse1.30467844
100NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.30114600
101STAT3_1855785_ChIP-Seq_MESCs_Mouse1.29737019
102KDM2B_26808549_Chip-Seq_K562_Human1.25406962
103MYC_22102868_ChIP-Seq_BL_Human1.24605427
104VDR_21846776_ChIP-Seq_THP-1_Human1.24367512
105YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.23471368
106EGR1_19374776_ChIP-ChIP_THP-1_Human1.22180670
107PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.21689117
108RBPJ_22232070_ChIP-Seq_NCS_Mouse1.19785706
109TP53_22127205_ChIP-Seq_IMR90_Human1.19002248
110SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.17110856
111HOXB4_20404135_ChIP-ChIP_EML_Mouse1.16471598
112PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.16239866
113MYC_18940864_ChIP-ChIP_HL60_Human1.15575723
114SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.15016025
115TCF7_22412390_ChIP-Seq_EML_Mouse1.14922692
116ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.14094005
117TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse1.13907876
118NANOG_21062744_ChIP-ChIP_HESCs_Human1.12587099
119CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.11590130
120EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.10752316
121TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.10709904
122SOX17_20123909_ChIP-Seq_XEN_Mouse1.10690642
123PADI4_21655091_ChIP-ChIP_MCF-7_Human1.08533007
124ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.06938973
125IRF1_19129219_ChIP-ChIP_H3396_Human1.06412459
126P68_20966046_ChIP-Seq_HELA_Human1.06392456
127SMC4_20622854_ChIP-Seq_HELA_Human1.06150928
128AR_21909140_ChIP-Seq_LNCAP_Human1.04938457
129SOX2_27498859_Chip-Seq_STOMACH_Mouse1.04574643
130ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.04437821
131SOX2_16153702_ChIP-ChIP_HESCs_Human1.04140739
132CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.04048633
133NANOG_16153702_ChIP-ChIP_HESCs_Human1.02731960
134KDM2B_26808549_Chip-Seq_DND41_Human1.02572543
135CHD1_26751641_Chip-Seq_LNCaP_Human1.02544850
136CREB1_26743006_Chip-Seq_LNCaP_Human1.01806611
137TRIM28_19339689_ChIP-ChIP_MESCs_Mouse1.01580915
138RUNX1_27514584_Chip-Seq_MCF-7_Human1.01565889
139BMI1_23680149_ChIP-Seq_NPCS_Mouse1.01465598
140TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.01259588
141OCT4_18692474_ChIP-Seq_MEFs_Mouse1.00912472
142VDR_22108803_ChIP-Seq_LS180_Human1.00597810
143SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.99611459
144TP63_19390658_ChIP-ChIP_HaCaT_Human0.98051717
145NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.98047520
146KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.95105648
147FOXM1_23109430_ChIP-Seq_U2OS_Human0.95005780
148ZFX_18555785_ChIP-Seq_MESCs_Mouse0.92316054
149POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.91908280
150SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.91213956
151SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.90923633
152FUS_26573619_Chip-Seq_HEK293_Human0.90001044
153CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.89813704
154NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.89320288
155NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.87828305
156SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.85070314
157TCF3_18692474_ChIP-Seq_MEFs_Mouse0.82683013
158CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.82382259
159FLI1_27457419_Chip-Seq_LIVER_Mouse0.80289151
160GATA1_26923725_Chip-Seq_HPCs_Mouse0.79523598
161BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.78498042
162EWS_26573619_Chip-Seq_HEK293_Human0.77604449
163ERG_20887958_ChIP-Seq_HPC-7_Mouse0.76857782
164HTT_18923047_ChIP-ChIP_STHdh_Human0.76386800
165SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.75849033
166CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.75684752
167SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.74431114
168SOX2_18692474_ChIP-Seq_MEFs_Mouse0.74374206
169KDM5A_27292631_Chip-Seq_BREAST_Human0.71400049
170YY1_22570637_ChIP-Seq_MALME-3M_Human0.70941353
171FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.70865287
172KAP1_22055183_ChIP-Seq_ESCs_Mouse0.70086086
173TFEB_21752829_ChIP-Seq_HELA_Human0.69036663
174CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.67842139

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003136_yellow_coat_color4.78917226
2MP0009379_abnormal_foot_pigmentation3.83248025
3MP0003693_abnormal_embryo_hatching3.72211369
4MP0010234_abnormal_vibrissa_follicle3.63924212
5MP0003705_abnormal_hypodermis_morpholog3.57134628
6MP0003941_abnormal_skin_development3.55000034
7MP0005257_abnormal_intraocular_pressure2.88533128
8MP0002877_abnormal_melanocyte_morpholog2.85307775
9MP0003718_maternal_effect2.81861429
10MP0004957_abnormal_blastocyst_morpholog2.80779831
11MP0003566_abnormal_cell_adhesion2.76340500
12MP0008058_abnormal_DNA_repair2.73859218
13MP0000537_abnormal_urethra_morphology2.65153127
14MP0006292_abnormal_olfactory_placode2.60409884
15MP0004133_heterotaxia2.45485118
16MP0005171_absent_coat_pigmentation2.45335806
17MP0008438_abnormal_cutaneous_collagen2.44130334
18MP0001986_abnormal_taste_sensitivity2.33185288
19MP0004272_abnormal_basement_membrane2.32796927
20MP0009780_abnormal_chondrocyte_physiolo2.29365143
21MP0005076_abnormal_cell_differentiation2.26351574
22MP0005058_abnormal_lysosome_morphology2.24864733
23MP0003111_abnormal_nucleus_morphology2.24770356
24MP0008877_abnormal_DNA_methylation2.22835904
25MP0008932_abnormal_embryonic_tissue2.20098046
26MP0001529_abnormal_vocalization2.17506107
27MP0002102_abnormal_ear_morphology2.16381248
28MP0003123_paternal_imprinting2.15860406
29MP0005623_abnormal_meninges_morphology2.09733554
30MP0003077_abnormal_cell_cycle2.02274475
31MP0008057_abnormal_DNA_replication2.01963059
32MP0003786_premature_aging2.01928111
33MP0004858_abnormal_nervous_system2.01658866
34MP0004381_abnormal_hair_follicle2.00864900
35MP0001849_ear_inflammation1.98586784
36MP0010094_abnormal_chromosome_stability1.97245479
37MP0010352_gastrointestinal_tract_polyps1.93345003
38MP0002796_impaired_skin_barrier1.90539818
39MP0003283_abnormal_digestive_organ1.90254280
40MP0001188_hyperpigmentation1.84904954
41MP0002938_white_spotting1.82206101
42MP0002163_abnormal_gland_morphology1.79612181
43MP0001905_abnormal_dopamine_level1.76922680
44MP0003453_abnormal_keratinocyte_physiol1.75131470
45MP0004233_abnormal_muscle_weight1.73216263
46MP0005501_abnormal_skin_physiology1.68534857
47MP0000372_irregular_coat_pigmentation1.63854983
48MP0003880_abnormal_central_pattern1.60988467
49MP0000566_synostosis1.60722717
50MP0003938_abnormal_ear_development1.56515300
51MP0008007_abnormal_cellular_replicative1.53393967
52MP0002060_abnormal_skin_morphology1.48571706
53MP0000678_abnormal_parathyroid_gland1.46772537
54MP0003091_abnormal_cell_migration1.46267760
55MP0005379_endocrine/exocrine_gland_phen1.45905549
56MP0000003_abnormal_adipose_tissue1.45886500
57MP0003937_abnormal_limbs/digits/tail_de1.44840748
58MP0003315_abnormal_perineum_morphology1.43713249
59MP0009840_abnormal_foam_cell1.42878711
60MP0001851_eye_inflammation1.38272854
61MP0004264_abnormal_extraembryonic_tissu1.37360780
62MP0004185_abnormal_adipocyte_glucose1.36378050
63MP0005409_darkened_coat_color1.35933246
64MP0005023_abnormal_wound_healing1.35695747
65MP0005423_abnormal_somatic_nervous1.35624230
66MP0003329_amyloid_beta_deposits1.35224092
67MP0008260_abnormal_autophagy1.34880911
68MP0002132_abnormal_respiratory_system1.31265185
69MP0002751_abnormal_autonomic_nervous1.27164079
70MP0002089_abnormal_postnatal_growth/wei1.27106101
71MP0000747_muscle_weakness1.25704524
72MP0000751_myopathy1.25542741
73MP0000762_abnormal_tongue_morphology1.25005493
74MP0002098_abnormal_vibrissa_morphology1.21882746
75MP0000350_abnormal_cell_proliferation1.21493121
76MP0001485_abnormal_pinna_reflex1.21072834
77MP0002249_abnormal_larynx_morphology1.20862145
78MP0002896_abnormal_bone_mineralization1.19549516
79MP0002210_abnormal_sex_determination1.19450152
80MP0003115_abnormal_respiratory_system1.17284831
81MP0004782_abnormal_surfactant_physiolog1.16914068
82MP0005508_abnormal_skeleton_morphology1.16397012
83MP0001299_abnormal_eye_distance/1.14678494
84MP0004142_abnormal_muscle_tone1.13887505
85MP0002160_abnormal_reproductive_system1.13108662
86MP0000579_abnormal_nail_morphology1.11853846
87MP0002697_abnormal_eye_size1.10918766
88MP0001346_abnormal_lacrimal_gland1.10304720
89MP0009672_abnormal_birth_weight1.10213047
90MP0001915_intracranial_hemorrhage1.10209160
91MP0002080_prenatal_lethality1.09595954
92MP0000733_abnormal_muscle_development1.08444737
93MP0000920_abnormal_myelination1.07942891
94MP0005621_abnormal_cell_physiology1.07833741
95MP0003191_abnormal_cellular_cholesterol1.07178008
96MP0001727_abnormal_embryo_implantation1.06931465
97MP0000858_altered_metastatic_potential1.06378851
98MP0009053_abnormal_anal_canal1.05076973
99MP0000467_abnormal_esophagus_morphology1.04742788
100MP0001216_abnormal_epidermal_layer1.03539894
101MP0001145_abnormal_male_reproductive1.01725551
102MP0005375_adipose_tissue_phenotype1.01703609
103MP0002084_abnormal_developmental_patter1.00552330
104MP0001730_embryonic_growth_arrest1.00151558
105MP0002233_abnormal_nose_morphology0.98109943
106MP0003942_abnormal_urinary_system0.96258730
107MP0000534_abnormal_ureter_morphology0.95804445
108MP0003890_abnormal_embryonic-extraembry0.94710532
109MP0001542_abnormal_bone_strength0.94460675
110MP0005389_reproductive_system_phenotype0.94460368
111MP0000013_abnormal_adipose_tissue0.94060465
112MP0003119_abnormal_digestive_system0.93383961
113MP0002092_abnormal_eye_morphology0.93264971
114MP0009384_cardiac_valve_regurgitation0.91870519
115MP0008995_early_reproductive_senescence0.89848397
116MP0005384_cellular_phenotype0.89446202
117MP0000627_abnormal_mammary_gland0.88599390
118MP0003567_abnormal_fetal_cardiomyocyte0.88572358
119MP0005395_other_phenotype0.88111697
120MP0005666_abnormal_adipose_tissue0.87746002
121MP0004270_analgesia0.87026025
122MP0003634_abnormal_glial_cell0.86942396
123MP0005248_abnormal_Harderian_gland0.86848316
124MP0002638_abnormal_pupillary_reflex0.86810097
125MP0000778_abnormal_nervous_system0.86164772
126MP0005408_hypopigmentation0.86128280
127MP0000653_abnormal_sex_gland0.85885104
128MP0006276_abnormal_autonomic_nervous0.84660936
129MP0010678_abnormal_skin_adnexa0.84345992
130MP0000647_abnormal_sebaceous_gland0.82938714
131MP0002086_abnormal_extraembryonic_tissu0.82928967
132MP0006082_CNS_inflammation0.82482961
133MP0002272_abnormal_nervous_system0.82399744
134MP0003121_genomic_imprinting0.82396983
135MP0004742_abnormal_vestibular_system0.82112748
136MP0001929_abnormal_gametogenesis0.81972940
137MP0010771_integument_phenotype0.81851496
138MP0002277_abnormal_respiratory_mucosa0.81548540
139MP0006072_abnormal_retinal_apoptosis0.81136703
140MP0003984_embryonic_growth_retardation0.80926427
141MP0000681_abnormal_thyroid_gland0.80412072
142MP0004197_abnormal_fetal_growth/weight/0.80210041
143MP0001270_distended_abdomen0.80203338
144MP0001286_abnormal_eye_development0.80059364
145MP0003385_abnormal_body_wall0.78317914
146MP0001963_abnormal_hearing_physiology0.77664675
147MP0000049_abnormal_middle_ear0.77475311
148MP0005165_increased_susceptibility_to0.77002796
149MP0004145_abnormal_muscle_electrophysio0.76869478
150MP0003755_abnormal_palate_morphology0.76466302
151MP0001243_abnormal_dermal_layer0.76264380
152MP0000377_abnormal_hair_follicle0.76129929
153MP0000026_abnormal_inner_ear0.74982119
154MP0002184_abnormal_innervation0.74974513
155MP0005451_abnormal_body_composition0.74334543
156MP0000462_abnormal_digestive_system0.72823973
157MP0001293_anophthalmia0.72130722
158MP0002111_abnormal_tail_morphology0.71932517
159MP0008789_abnormal_olfactory_epithelium0.71606858
160MP0000613_abnormal_salivary_gland0.70804343
161MP0001661_extended_life_span0.68092716
162MP0002752_abnormal_somatic_nervous0.67954756
163MP0001340_abnormal_eyelid_morphology0.67456031
164MP0003195_calcinosis0.67384398
165MP0001672_abnormal_embryogenesis/_devel0.66927228
166MP0005380_embryogenesis_phenotype0.66927228
167MP0002085_abnormal_embryonic_tissue0.64283026
168MP0010030_abnormal_orbit_morphology0.63540500
169MP0000465_gastrointestinal_hemorrhage0.63038650
170MP0002734_abnormal_mechanical_nocicepti0.62233021
171MP0002735_abnormal_chemical_nociception0.61321856
172MP0002736_abnormal_nociception_after0.61063799
173MP0003221_abnormal_cardiomyocyte_apopto0.60486479
174MP0001919_abnormal_reproductive_system0.58590251
175MP0005075_abnormal_melanosome_morpholog0.58479165

Predicted human phenotypes

RankGene SetZ-score
1Breast hypoplasia (HP:0003187)4.42988695
2Premature rupture of membranes (HP:0001788)4.05785355
3Reticulocytopenia (HP:0001896)3.96166204
4Congenital nonbullous ichthyosiform erythroderma (HP:0007479)3.95860636
5Abnormality of cells of the erythroid lineage (HP:0012130)3.83027334
6Cerebral hypomyelination (HP:0006808)3.74389591
7Protrusio acetabuli (HP:0003179)3.70097759
8Duplicated collecting system (HP:0000081)3.56785581
9Double outlet right ventricle (HP:0001719)3.51398113
10Congenital malformation of the right heart (HP:0011723)3.51398113
11Macrocytic anemia (HP:0001972)3.46938600
12Vertebral compression fractures (HP:0002953)3.40362878
13Hyperacusis (HP:0010780)3.34950865
14Parakeratosis (HP:0001036)3.30446503
15Abnormal number of erythroid precursors (HP:0012131)3.27904302
16Upper limb amyotrophy (HP:0009129)3.16522075
17Distal upper limb amyotrophy (HP:0007149)3.16522075
18Hand muscle atrophy (HP:0009130)3.04254091
19Colon cancer (HP:0003003)2.98078503
20Birth length less than 3rd percentile (HP:0003561)2.94873615
21Acute necrotizing encephalopathy (HP:0006965)2.94262079
22Abnormality of the renal collecting system (HP:0004742)2.83780640
23Ulnar bowing (HP:0003031)2.81812888
24Abnormality of the distal phalanges of the toes (HP:0010182)2.79954939
25Transposition of the great arteries (HP:0001669)2.78276422
26Abnormal connection of the cardiac segments (HP:0011545)2.78276422
27Abnormal ventriculo-arterial connection (HP:0011563)2.78276422
28Ureteral duplication (HP:0000073)2.69832723
29Short nail (HP:0001799)2.69161155
30Progressive external ophthalmoplegia (HP:0000590)2.66642754
31CNS hypomyelination (HP:0003429)2.64014710
32Achilles tendon contracture (HP:0001771)2.61566003
33Shallow orbits (HP:0000586)2.58932713
343-Methylglutaconic aciduria (HP:0003535)2.55379362
35Absent radius (HP:0003974)2.55081131
36Congenital ichthyosiform erythroderma (HP:0007431)2.53024686
37Conical tooth (HP:0000698)2.50855184
38Chromosomal breakage induced by crosslinking agents (HP:0003221)2.48750321
39Insomnia (HP:0100785)2.47827259
40Mitochondrial inheritance (HP:0001427)2.46878121
41Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.44356419
42Aplasia involving forearm bones (HP:0009822)2.42721960
43Absent forearm bone (HP:0003953)2.42721960
44Flat acetabular roof (HP:0003180)2.42617107
45Patchy hypopigmentation of hair (HP:0011365)2.40296389
46Rough bone trabeculation (HP:0100670)2.39684054
47Abnormality of the Achilles tendon (HP:0005109)2.39291561
48Carpal bone hypoplasia (HP:0001498)2.38950315
49Abnormality of dentin (HP:0010299)2.36349086
50Asymmetry of the thorax (HP:0001555)2.33909340
51Back pain (HP:0003418)2.32783711
52Sex reversal (HP:0012245)2.31012432
53Abnormal sex determination (HP:0012244)2.31012432
54Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.30037284
55Broad face (HP:0000283)2.29439869
56Progressive macrocephaly (HP:0004481)2.28955000
57Aplasia/Hypoplasia involving the musculature (HP:0001460)2.28431215
58Patent foramen ovale (HP:0001655)2.27400852
59Hypoplastic pelvis (HP:0008839)2.26980785
60Aplasia/Hypoplasia of the sacrum (HP:0008517)2.26001211
61Distal lower limb amyotrophy (HP:0008944)2.25551583
62Abnormality of the umbilical cord (HP:0010881)2.20375501
63Abnormal mitochondria in muscle tissue (HP:0008316)2.20114437
64Spinal rigidity (HP:0003306)2.19879261
65Pancreatic fibrosis (HP:0100732)2.18597138
66Impulsivity (HP:0100710)2.18002951
67Supernumerary spleens (HP:0009799)2.16159162
68Atrophic scars (HP:0001075)2.15658298
69Turricephaly (HP:0000262)2.15309990
70Acute encephalopathy (HP:0006846)2.14448757
71Neurofibrillary tangles (HP:0002185)2.12270040
72Abnormality of glycolysis (HP:0004366)2.11820952
73Increased serum pyruvate (HP:0003542)2.11820952
74Pallor (HP:0000980)2.11172488
75Abnormality of DNA repair (HP:0003254)2.10785035
76Distal lower limb muscle weakness (HP:0009053)2.10541755
77Split foot (HP:0001839)2.10042098
78Increased CSF lactate (HP:0002490)2.09960986
79Adrenal hypoplasia (HP:0000835)2.09884250
80Increased hepatocellular lipid droplets (HP:0006565)2.09159155
81Abnormal hair whorl (HP:0010721)2.08818086
82Cerebral inclusion bodies (HP:0100314)2.08104718
83Selective tooth agenesis (HP:0001592)2.07867467
84True hermaphroditism (HP:0010459)2.07730460
85Prolonged neonatal jaundice (HP:0006579)2.05815651
86Shoulder girdle muscle weakness (HP:0003547)2.05765343
87Chromsome breakage (HP:0040012)2.05677777
88Patellar aplasia (HP:0006443)2.05591900
89Type I transferrin isoform profile (HP:0003642)2.04004853
90Muscle fiber atrophy (HP:0100295)2.03874225
91Vertebral arch anomaly (HP:0008438)2.03405988
92Congenital, generalized hypertrichosis (HP:0004540)2.03133039
93Type 2 muscle fiber atrophy (HP:0003554)2.02153386
94Cholecystitis (HP:0001082)2.01741427
95Abnormal gallbladder physiology (HP:0012438)2.01741427
96Deviation of the thumb (HP:0009603)2.00528526
97Secondary amenorrhea (HP:0000869)2.00463052
98Spastic diplegia (HP:0001264)2.00234627
99Trismus (HP:0000211)2.00173073
100Abnormality of secondary sexual hair (HP:0009888)1.99607652
101Abnormality of the axillary hair (HP:0100134)1.99607652
102Aplasia/Hypoplasia of the patella (HP:0006498)1.99332791
103Abnormal trabecular bone morphology (HP:0100671)1.97648059
104Abnormal lung lobation (HP:0002101)1.97505218
105Abnormality of the fetal cardiovascular system (HP:0010948)1.97152454
106Abnormal umbilical cord blood vessels (HP:0011403)1.97152454
107Single umbilical artery (HP:0001195)1.97152454
108Abnormality of carpal bone ossification (HP:0006257)1.97035463
109Male infertility (HP:0003251)1.96739437
110Wormian bones (HP:0002645)1.96246953
111Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.96040547
112Aplasia involving bones of the extremities (HP:0009825)1.95972580
113Aplasia involving bones of the upper limbs (HP:0009823)1.95972580
114Aplasia of the phalanges of the hand (HP:0009802)1.95972580
115Ankle contracture (HP:0006466)1.95637801
116Arterial tortuosity (HP:0005116)1.95539249
117Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.95331687
118Renal Fanconi syndrome (HP:0001994)1.95127941
119Hyperparathyroidism (HP:0000843)1.94411878
120External ophthalmoplegia (HP:0000544)1.93249154
121Triphalangeal thumb (HP:0001199)1.92384890
122Long palpebral fissure (HP:0000637)1.92010680
123Delusions (HP:0000746)1.91947841
124Natal tooth (HP:0000695)1.91787279
125Hammertoe (HP:0001765)1.91016604
126Bronchomalacia (HP:0002780)1.90802591
127Pancreatic cysts (HP:0001737)1.90530870
128Axonal loss (HP:0003447)1.90444539
129Arnold-Chiari malformation (HP:0002308)1.90271966
130Morphological abnormality of the inner ear (HP:0011390)1.89150491
131Increased serum lactate (HP:0002151)1.88978567
132Growth hormone excess (HP:0000845)1.88765975
133Leukodystrophy (HP:0002415)1.88680863
134Megaloblastic anemia (HP:0001889)1.88076973
135Abnormal ossification of hand bones (HP:0005921)1.88020768
136Difficulty climbing stairs (HP:0003551)1.87501292
137Vascular tortuosity (HP:0004948)1.87170943
138Overriding aorta (HP:0002623)1.86781059
139Biconcave vertebral bodies (HP:0004586)1.86603481
14011 pairs of ribs (HP:0000878)1.86118514
141Sparse eyelashes (HP:0000653)1.85883963
142Proximal placement of thumb (HP:0009623)1.85812004
143Bladder diverticulum (HP:0000015)1.85488925
144Aplasia/hypoplasia of the uterus (HP:0008684)1.85449540
145Advanced eruption of teeth (HP:0006288)1.85381694
146Atelectasis (HP:0100750)1.84548468
147White forelock (HP:0002211)1.84434881
148Mitral regurgitation (HP:0001653)1.83377635
149Horseshoe kidney (HP:0000085)1.83366773
150Stenosis of the external auditory canal (HP:0000402)1.83196646
151Progressive sensorineural hearing impairment (HP:0000408)1.82660658
152Flattened epiphyses (HP:0003071)1.82095431
153Elbow flexion contracture (HP:0002987)1.81114488
154Irregular epiphyses (HP:0010582)1.80788369
155Deep venous thrombosis (HP:0002625)1.78970203
156Duplication of thumb phalanx (HP:0009942)1.78400327
157Postnatal microcephaly (HP:0005484)1.78225487
158Mildly elevated creatine phosphokinase (HP:0008180)1.77891324
159Abnormalities of placenta or umbilical cord (HP:0001194)1.77237598
160Absent thumb (HP:0009777)1.76802081
161Aplasia of the musculature (HP:0100854)1.76528930
162Cervical subluxation (HP:0003308)1.76142591
163Nuclear cataract (HP:0100018)1.75752485
164Aplasia/Hypoplasia of the breasts (HP:0010311)1.75102617
165Lower limb amyotrophy (HP:0007210)1.75044169
166Long toe (HP:0010511)1.74738785
167Sensory axonal neuropathy (HP:0003390)1.74723679
168Hypoplasia of the capital femoral epiphysis (HP:0003090)1.74554026
169Abnormality of placental membranes (HP:0011409)1.73364455
170Amniotic constriction ring (HP:0009775)1.73364455
171Abnormality of the distal phalanx of the thumb (HP:0009617)1.73172197
172Tetraparesis (HP:0002273)1.73143256
173Hepatocellular necrosis (HP:0001404)1.71974757
174Increased connective tissue (HP:0009025)1.71769105
175Neonatal short-limb short stature (HP:0008921)1.71356151
176Abnormality of the acetabulum (HP:0003170)1.70884534
177Stridor (HP:0010307)1.70724007
178Chronic bronchitis (HP:0004469)1.70085651
179Progressive hearing impairment (HP:0001730)1.69970626
180Limb-girdle muscle atrophy (HP:0003797)1.69927162
181Premature skin wrinkling (HP:0100678)1.69677701
182Centrally nucleated skeletal muscle fibers (HP:0003687)1.68910068
183Pterygium (HP:0001059)1.68213504
184Breech presentation (HP:0001623)1.68008441
185Broad distal phalanx of finger (HP:0009836)1.67895111
186Facial cleft (HP:0002006)1.67566598
187Coronal craniosynostosis (HP:0004440)1.66978541
188Mitral stenosis (HP:0001718)1.66036588
189Spinal cord compression (HP:0002176)1.63646270
190Cerebral aneurysm (HP:0004944)1.63066454
191Distal sensory impairment (HP:0002936)1.62268698
192Upper limb muscle weakness (HP:0003484)1.61881713
193Glossoptosis (HP:0000162)1.61602083
194Broad metatarsal (HP:0001783)1.61329865
195Blue sclerae (HP:0000592)1.60889058
196Congenital glaucoma (HP:0001087)1.60600569
197Hyperextensible skin (HP:0000974)1.60188615
198Spinal cord lesions (HP:0100561)1.59719163
199Syringomyelia (HP:0003396)1.59719163

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB14.56957860
2STK164.08435685
3TRIB33.59917698
4WEE13.00422780
5TESK12.82073371
6SMG12.75401793
7CASK2.58903010
8ICK2.47490496
9NME22.44659270
10VRK12.24774754
11PLK42.20799620
12SCYL22.12093872
13TSSK62.11425079
14MAP3K32.08700950
15RIPK12.05294193
16PDGFRA2.04327031
17MAP2K31.99608221
18MST1R1.99379557
19EEF2K1.92551820
20MKNK11.91029856
21CDK121.88754054
22NME11.88717401
23EIF2AK11.87927591
24PRPF4B1.87310625
25BMPR1B1.86726875
26PAK41.85808529
27PLK31.84876989
28LMTK21.82883838
29MKNK21.82074753
30PBK1.78412490
31NTRK11.77305340
32CDK191.77030641
33MET1.71835974
34BRSK21.71426943
35SIK11.70910572
36ACVR1B1.64969703
37PTK21.64672509
38ARAF1.62784989
39EPHA21.58063226
40PKN21.57573160
41BCR1.57555120
42EIF2AK31.56890755
43ZAK1.56637616
44SRPK11.55573535
45BMPR21.55285241
46TLK11.50479858
47FGFR41.46232414
48STK391.44199831
49ERN11.41390755
50IRAK21.41275293
51TTK1.38708427
52EPHB11.30241492
53DYRK31.29660937
54DYRK21.28827616
55PIM21.25367547
56TAOK21.22801162
57OXSR11.21564634
58CSNK1G31.19014824
59MAPKAPK51.18012807
60PLK11.16890199
61PNCK1.06870646
62AURKA1.05919767
63MUSK1.04604900
64RPS6KA51.04064637
65KSR21.03197561
66BRAF1.03104167
67AKT31.02803436
68MOS1.01899334
69ERBB40.98962610
70MTOR0.97832050
71LIMK10.96471344
72PLK20.87913571
73MAP2K20.86969447
74LRRK20.85591295
75MAP3K90.85432959
76BRSK10.85043069
77NEK60.85005096
78IRAK30.84978716
79CSNK1G10.83652010
80TESK20.82138821
81TTN0.82031117
82MST40.81742315
83PKN10.77994156
84CHEK20.77508973
85STK380.77475026
86PAK60.76601544
87EIF2AK20.76399497
88PASK0.76111749
89CSNK1A1L0.74074604
90PTK60.73061814
91BMX0.72433949
92CDK60.71308704
93MAPK130.70753990
94PAK20.70258079
95AURKB0.70131411
96MAP3K100.68967037
97PRKD30.68746717
98MAPK150.68345977
99MAP3K130.68048801
100PRKD20.67872085
101CDK30.67858563
102MAP3K60.67795692
103CAMK2B0.67385074
104ERBB30.67137609
105CDK70.65250576
106CCNB10.64146725
107ILK0.61426017
108DYRK1B0.61096553
109CSNK2A10.61084805
110MARK20.60953050
111CSNK2A20.60319456
112AKT20.60158149
113KIT0.59647836
114DDR20.59025170
115PRKCI0.58773992
116NUAK10.57250315
117CDK140.56337303
118RET0.55780451
119LATS10.55391748
120CDK11A0.55214059
121ABL20.54854300
122MAP3K80.54487644
123GRK70.54265938
124UHMK10.53935540
125PAK10.53823574
126PRKCE0.53661297
127MARK10.53018475
128TAOK10.52451952
129FLT30.51852810
130STK38L0.51500756
131IRAK40.50800638
132CDK150.50759178
133PINK10.49879673
134CDK180.49368588
135TBK10.46806593
136TNIK0.46085098
137ROCK20.45887226
138EPHB20.45299380
139CSNK1G20.45068755
140YES10.44991307
141MARK30.44969973
142CDK90.44733493
143LATS20.44614196
144CAMK2D0.42693213
145NEK20.41729172
146SGK2230.41440344
147SGK4940.41440344
148CDK80.40533256
149CLK10.40347910
150RAF10.39983433
151MAPKAPK30.39951703
152CHEK10.38848531
153MAP2K70.38381160
154RPS6KA20.38328269
155MAP3K110.38135897
156VRK20.37427027
157DMPK0.37136271
158ADRBK20.36889838
159CDC70.36175467
160MAP2K60.35948152
161RPS6KA40.35559919
162PDGFRB0.35466676
163SIK30.35433246
164CSNK1E0.35419749
165TYRO30.35302521
166CAMK2G0.34467823
167NEK90.34388931
168MAP3K140.34177795
169TIE10.33899179
170IRAK10.33129768

Predicted pathways (KEGG)

RankGene SetZ-score
1RNA polymerase_Homo sapiens_hsa030204.81403832
2Ribosome_Homo sapiens_hsa030104.48941450
3Proteasome_Homo sapiens_hsa030504.02840247
4Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.21491452
5Protein export_Homo sapiens_hsa030603.09130363
6Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.78829186
7Vitamin B6 metabolism_Homo sapiens_hsa007502.61985574
8Basal transcription factors_Homo sapiens_hsa030222.58063627
9Spliceosome_Homo sapiens_hsa030402.57610954
10Oxidative phosphorylation_Homo sapiens_hsa001902.56370523
11Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.54324253
12Mismatch repair_Homo sapiens_hsa034302.50876249
13Nucleotide excision repair_Homo sapiens_hsa034202.49994829
14Pyrimidine metabolism_Homo sapiens_hsa002402.29733620
15Biosynthesis of amino acids_Homo sapiens_hsa012302.28332308
16Protein processing in endoplasmic reticulum_Homo sapiens_hsa041412.21012268
17DNA replication_Homo sapiens_hsa030302.16464841
18Homologous recombination_Homo sapiens_hsa034402.16421568
19Parkinsons disease_Homo sapiens_hsa050122.09108673
20RNA transport_Homo sapiens_hsa030132.07739469
21Central carbon metabolism in cancer_Homo sapiens_hsa052301.98230210
22Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.95321824
23Fructose and mannose metabolism_Homo sapiens_hsa000511.94899529
242-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.93164098
25Fanconi anemia pathway_Homo sapiens_hsa034601.90391964
26Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.88061623
27Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.86802903
28Bladder cancer_Homo sapiens_hsa052191.81462439
29Pentose phosphate pathway_Homo sapiens_hsa000301.75138207
30Huntingtons disease_Homo sapiens_hsa050161.74930608
31Steroid biosynthesis_Homo sapiens_hsa001001.73515009
32Galactose metabolism_Homo sapiens_hsa000521.72925763
33Other glycan degradation_Homo sapiens_hsa005111.62453682
34Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.58699652
35Adherens junction_Homo sapiens_hsa045201.58642166
36Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.56321680
37Thyroid cancer_Homo sapiens_hsa052161.50980497
38Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.48991736
39Phenylalanine metabolism_Homo sapiens_hsa003601.48698814
40Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.47261307
41Purine metabolism_Homo sapiens_hsa002301.46344241
42Non-homologous end-joining_Homo sapiens_hsa034501.45533413
43Cell cycle_Homo sapiens_hsa041101.44629238
44Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.44191148
45Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.43080160
46Linoleic acid metabolism_Homo sapiens_hsa005911.42958854
47Chronic myeloid leukemia_Homo sapiens_hsa052201.42833125
48Carbon metabolism_Homo sapiens_hsa012001.42203918
49Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.41224533
50Ether lipid metabolism_Homo sapiens_hsa005651.36379064
51Alzheimers disease_Homo sapiens_hsa050101.34798221
52Arachidonic acid metabolism_Homo sapiens_hsa005901.30618509
53Notch signaling pathway_Homo sapiens_hsa043301.29817191
54Shigellosis_Homo sapiens_hsa051311.29091908
55Folate biosynthesis_Homo sapiens_hsa007901.21063527
56Glycosaminoglycan degradation_Homo sapiens_hsa005311.21046206
57alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.18846305
58Base excision repair_Homo sapiens_hsa034101.17007149
59Fatty acid elongation_Homo sapiens_hsa000621.16484149
60Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.15060750
61Pancreatic cancer_Homo sapiens_hsa052121.11546583
62Endometrial cancer_Homo sapiens_hsa052131.10482521
63Proteoglycans in cancer_Homo sapiens_hsa052051.08975072
64Thyroid hormone signaling pathway_Homo sapiens_hsa049191.08867557
65N-Glycan biosynthesis_Homo sapiens_hsa005101.07173548
66Endocytosis_Homo sapiens_hsa041441.04863743
67Sphingolipid metabolism_Homo sapiens_hsa006001.03902483
68Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.02767864
69Focal adhesion_Homo sapiens_hsa045100.99680419
70RNA degradation_Homo sapiens_hsa030180.99254700
71Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.99143556
72SNARE interactions in vesicular transport_Homo sapiens_hsa041300.98730641
73p53 signaling pathway_Homo sapiens_hsa041150.98295065
74Regulation of autophagy_Homo sapiens_hsa041400.98058288
75Collecting duct acid secretion_Homo sapiens_hsa049660.97787067
76ErbB signaling pathway_Homo sapiens_hsa040120.96304808
77Neurotrophin signaling pathway_Homo sapiens_hsa047220.94185438
78Small cell lung cancer_Homo sapiens_hsa052220.93611078
79Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.93189394
80ECM-receptor interaction_Homo sapiens_hsa045120.91474467
81Insulin signaling pathway_Homo sapiens_hsa049100.90823514
82Renal cell carcinoma_Homo sapiens_hsa052110.87929576
83Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.86985813
84Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.84602064
85MicroRNAs in cancer_Homo sapiens_hsa052060.84364616
86Epstein-Barr virus infection_Homo sapiens_hsa051690.84035085
87AMPK signaling pathway_Homo sapiens_hsa041520.83962101
88Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.83299183
89Vibrio cholerae infection_Homo sapiens_hsa051100.81334502
90VEGF signaling pathway_Homo sapiens_hsa043700.79171179
91Prostate cancer_Homo sapiens_hsa052150.78166306
92Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.77537099
93Non-small cell lung cancer_Homo sapiens_hsa052230.77378089
94Synaptic vesicle cycle_Homo sapiens_hsa047210.77088075
95Salmonella infection_Homo sapiens_hsa051320.76806660
96Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.76180264
97Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.75334664
98Maturity onset diabetes of the young_Homo sapiens_hsa049500.74108583
99Oocyte meiosis_Homo sapiens_hsa041140.73204123
100Cyanoamino acid metabolism_Homo sapiens_hsa004600.73189697
101Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.70228664
102Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.69856508
103Glioma_Homo sapiens_hsa052140.69285857
104One carbon pool by folate_Homo sapiens_hsa006700.68881828
105Amoebiasis_Homo sapiens_hsa051460.67937971
106Leukocyte transendothelial migration_Homo sapiens_hsa046700.67743549
107Apoptosis_Homo sapiens_hsa042100.66373562
108mTOR signaling pathway_Homo sapiens_hsa041500.66270360
109Vitamin digestion and absorption_Homo sapiens_hsa049770.66235437
110Colorectal cancer_Homo sapiens_hsa052100.65976064
111Regulation of actin cytoskeleton_Homo sapiens_hsa048100.64925972
112Sulfur relay system_Homo sapiens_hsa041220.64414559
113mRNA surveillance pathway_Homo sapiens_hsa030150.60957575
114Arginine biosynthesis_Homo sapiens_hsa002200.60701790
115AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.60700464
116Glutathione metabolism_Homo sapiens_hsa004800.60647589
117Metabolic pathways_Homo sapiens_hsa011000.60487365
118HIF-1 signaling pathway_Homo sapiens_hsa040660.60098680
119Rheumatoid arthritis_Homo sapiens_hsa053230.59762103
120Acute myeloid leukemia_Homo sapiens_hsa052210.58227353
121Hepatitis C_Homo sapiens_hsa051600.57977926
122Estrogen signaling pathway_Homo sapiens_hsa049150.57651175
123Choline metabolism in cancer_Homo sapiens_hsa052310.57396572
124Lysine degradation_Homo sapiens_hsa003100.56737303
125Pyruvate metabolism_Homo sapiens_hsa006200.56268863
126Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.55315097
127Gap junction_Homo sapiens_hsa045400.55297598
128Serotonergic synapse_Homo sapiens_hsa047260.55243003
129Longevity regulating pathway - mammal_Homo sapiens_hsa042110.55154808
130Inositol phosphate metabolism_Homo sapiens_hsa005620.54793077
131Tyrosine metabolism_Homo sapiens_hsa003500.54273012
132Arginine and proline metabolism_Homo sapiens_hsa003300.51294958
133Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.51237401
134Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.50409370
135Pathways in cancer_Homo sapiens_hsa052000.49623072
136Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.49252241
137Phospholipase D signaling pathway_Homo sapiens_hsa040720.49220748
138Glycerophospholipid metabolism_Homo sapiens_hsa005640.49101013
139Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.41019001
140Cardiac muscle contraction_Homo sapiens_hsa042600.39764354
141Sulfur metabolism_Homo sapiens_hsa009200.36793596
142Phagosome_Homo sapiens_hsa041450.36043919
143Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.35607641
144Systemic lupus erythematosus_Homo sapiens_hsa053220.35333023
145Hedgehog signaling pathway_Homo sapiens_hsa043400.32237597
146Taste transduction_Homo sapiens_hsa047420.31987405
147Phototransduction_Homo sapiens_hsa047440.31378151
148Cysteine and methionine metabolism_Homo sapiens_hsa002700.31353815
149Nicotine addiction_Homo sapiens_hsa050330.31272247
150Alcoholism_Homo sapiens_hsa050340.29997139
151Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.25459306
152Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.22800174
153Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.22261196
154Tight junction_Homo sapiens_hsa045300.19299177
155Hippo signaling pathway_Homo sapiens_hsa043900.19241971
156Drug metabolism - other enzymes_Homo sapiens_hsa009830.18152033
157Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.15730887
158Selenocompound metabolism_Homo sapiens_hsa004500.15664520
159Long-term depression_Homo sapiens_hsa047300.13214450
160Prion diseases_Homo sapiens_hsa050200.12389674
161Autoimmune thyroid disease_Homo sapiens_hsa053200.11423004
162Graft-versus-host disease_Homo sapiens_hsa053320.10934544
163TGF-beta signaling pathway_Homo sapiens_hsa043500.10873865
164Retinol metabolism_Homo sapiens_hsa008300.09812414
165Axon guidance_Homo sapiens_hsa043600.08250974
166Basal cell carcinoma_Homo sapiens_hsa052170.07493933
167Lysosome_Homo sapiens_hsa041420.07194360
168Ras signaling pathway_Homo sapiens_hsa040140.06784430
169Ovarian steroidogenesis_Homo sapiens_hsa049130.06378419
170PI3K-Akt signaling pathway_Homo sapiens_hsa041510.04992312
171Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.03260305
172Glutamatergic synapse_Homo sapiens_hsa047240.03254098
173Melanoma_Homo sapiens_hsa052180.02218270
174Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.01482637

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