PIR

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 cupin superfamily. The encoded protein is an Fe(II)-containing nuclear protein expressed in all tissues of the body and concentrated within dot-like subnuclear structures. Interactions with nuclear factor I/CCAAT box transcription factor as well as B cell lymphoma 3-encoded oncoprotein suggest the encoded protein may act as a transcriptional cofactor and be involved in the regulation of DNA transcription and replication. Alternatively spliced transcript variants have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1melanin biosynthetic process (GO:0042438)6.12364189
2secondary metabolite biosynthetic process (GO:0044550)5.77634889
3proteasome assembly (GO:0043248)5.54269242
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)5.51551335
5L-phenylalanine metabolic process (GO:0006558)5.51551335
6L-phenylalanine catabolic process (GO:0006559)5.40970944
7erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)5.40970944
8melanin metabolic process (GO:0006582)5.32772473
9aromatic amino acid family catabolic process (GO:0009074)4.87132608
10mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.77152952
11triglyceride-rich lipoprotein particle remodeling (GO:0034370)4.60400111
12L-ascorbic acid metabolic process (GO:0019852)4.53126647
13sulfur amino acid catabolic process (GO:0000098)4.51528428
14bile acid biosynthetic process (GO:0006699)4.51517841
15glyoxylate metabolic process (GO:0046487)4.44925610
16high-density lipoprotein particle remodeling (GO:0034375)4.39460828
17negative regulation of fibrinolysis (GO:0051918)4.37538055
18tryptophan catabolic process (GO:0006569)4.36764138
19indole-containing compound catabolic process (GO:0042436)4.36764138
20indolalkylamine catabolic process (GO:0046218)4.36764138
21cysteine metabolic process (GO:0006534)4.35085025
22regulation of protein activation cascade (GO:2000257)4.34783355
23ethanol oxidation (GO:0006069)4.31540709
24serine family amino acid catabolic process (GO:0009071)4.31243423
25aldehyde catabolic process (GO:0046185)4.26408592
26kynurenine metabolic process (GO:0070189)4.17474038
27regulation of complement activation (GO:0030449)4.15684746
28regulation of fibrinolysis (GO:0051917)4.13211024
29tryptophan metabolic process (GO:0006568)4.12708031
30ATP synthesis coupled proton transport (GO:0015986)4.03951383
31energy coupled proton transport, down electrochemical gradient (GO:0015985)4.03951383
32response to nitrosative stress (GO:0051409)4.02793834
33alkaloid metabolic process (GO:0009820)3.96646354
34regulation of cholesterol esterification (GO:0010872)3.94910281
35negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.94375954
36imidazole-containing compound metabolic process (GO:0052803)3.88899115
37epoxygenase P450 pathway (GO:0019373)3.86335276
38regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.79864248
39coenzyme catabolic process (GO:0009109)3.79468795
40tyrosine metabolic process (GO:0006570)3.79052398
41establishment of protein localization to mitochondrial membrane (GO:0090151)3.78928444
42glycine metabolic process (GO:0006544)3.77991419
43regulation of cellular amino acid metabolic process (GO:0006521)3.77851778
44cullin deneddylation (GO:0010388)3.76796520
45urea cycle (GO:0000050)3.74209984
46urea metabolic process (GO:0019627)3.74209984
47aromatic amino acid family metabolic process (GO:0009072)3.73392903
48protein K6-linked ubiquitination (GO:0085020)3.72790428
49reverse cholesterol transport (GO:0043691)3.71782402
50xenobiotic catabolic process (GO:0042178)3.71161649
51phospholipid efflux (GO:0033700)3.69512052
52plasma lipoprotein particle remodeling (GO:0034369)3.67492488
53protein-lipid complex remodeling (GO:0034368)3.67492488
54macromolecular complex remodeling (GO:0034367)3.67492488
55positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.67320544
56mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.66299520
57glutathione derivative metabolic process (GO:1901685)3.64475958
58glutathione derivative biosynthetic process (GO:1901687)3.64475958
59bile acid metabolic process (GO:0008206)3.63476488
60anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.63452035
61cellular glucuronidation (GO:0052695)3.62329603
62amino-acid betaine metabolic process (GO:0006577)3.62017871
63serine family amino acid metabolic process (GO:0009069)3.62003200
64protein carboxylation (GO:0018214)3.61612028
65peptidyl-glutamic acid carboxylation (GO:0017187)3.61612028
66complement activation, alternative pathway (GO:0006957)3.61477468
67negative regulation of ligase activity (GO:0051352)3.59282597
68negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.59282597
69homocysteine metabolic process (GO:0050667)3.57515013
70alpha-amino acid catabolic process (GO:1901606)3.54895188
71chaperone-mediated protein transport (GO:0072321)3.54576390
72regulation of mitochondrial translation (GO:0070129)3.54449311
73nitrogen cycle metabolic process (GO:0071941)3.54220911
74fibrinolysis (GO:0042730)3.54037166
75arginine metabolic process (GO:0006525)3.52961753
76chromatin remodeling at centromere (GO:0031055)3.51761339
77regulation of triglyceride catabolic process (GO:0010896)3.50948386
78protein deneddylation (GO:0000338)3.47350446
79DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.46429212
80glucuronate metabolic process (GO:0019585)3.46226394
81uronic acid metabolic process (GO:0006063)3.46226394
82primary alcohol catabolic process (GO:0034310)3.45299085
83phenol-containing compound catabolic process (GO:0019336)3.44627352
84respiratory electron transport chain (GO:0022904)3.44622703
85signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.43203646
86signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.43203646
87signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.43203646
88CENP-A containing nucleosome assembly (GO:0034080)3.43171379
89alpha-linolenic acid metabolic process (GO:0036109)3.41461239
90electron transport chain (GO:0022900)3.41312282
91intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.39857546
92signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.39857546
93negative regulation of protein activation cascade (GO:2000258)3.39161785
94benzene-containing compound metabolic process (GO:0042537)3.36637377
95water-soluble vitamin biosynthetic process (GO:0042364)3.35926022
96rRNA modification (GO:0000154)3.35437781
97signal transduction involved in DNA integrity checkpoint (GO:0072401)3.33533717
98signal transduction involved in DNA damage checkpoint (GO:0072422)3.33533717
99fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.33464833
100bile acid and bile salt transport (GO:0015721)3.32917894
101low-density lipoprotein particle remodeling (GO:0034374)3.31720786
102respiratory chain complex IV assembly (GO:0008535)3.30751555
103cellular biogenic amine catabolic process (GO:0042402)3.30298005
104amine catabolic process (GO:0009310)3.30298005
105maturation of 5.8S rRNA (GO:0000460)3.28253071
106negative regulation of fatty acid biosynthetic process (GO:0045717)3.27805789
107signal transduction involved in cell cycle checkpoint (GO:0072395)3.27538368
108ethanol metabolic process (GO:0006067)3.27185216
109negative regulation of sterol transport (GO:0032372)3.26737462
110negative regulation of cholesterol transport (GO:0032375)3.26737462
111cofactor catabolic process (GO:0051187)3.26069204
112mitochondrial respiratory chain complex assembly (GO:0033108)3.25854512
113cellular amino acid catabolic process (GO:0009063)3.24311435
114protein complex biogenesis (GO:0070271)3.23928493
115heme transport (GO:0015886)3.22971762
116DNA replication checkpoint (GO:0000076)3.22788346
117triglyceride homeostasis (GO:0070328)3.19055308
118acylglycerol homeostasis (GO:0055090)3.19055308
119mitochondrial respiratory chain complex I assembly (GO:0032981)3.16348976
120NADH dehydrogenase complex assembly (GO:0010257)3.16348976
121mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.16348976
122plasma lipoprotein particle clearance (GO:0034381)3.15559771
123blood coagulation, intrinsic pathway (GO:0007597)3.13465602
124positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.11728684
125indolalkylamine metabolic process (GO:0006586)3.10803941
126drug catabolic process (GO:0042737)3.10430553
127pigment biosynthetic process (GO:0046148)3.09526448
128purine nucleobase biosynthetic process (GO:0009113)3.09492971
129serine family amino acid biosynthetic process (GO:0009070)3.08509211
130negative regulation of blood coagulation (GO:0030195)3.05874167
131negative regulation of hemostasis (GO:1900047)3.05874167
132drug metabolic process (GO:0017144)3.05380540
133arginine catabolic process (GO:0006527)3.05175261
134flavonoid metabolic process (GO:0009812)3.05120840
135positive regulation of ligase activity (GO:0051351)3.02801661
136transcription elongation from RNA polymerase III promoter (GO:0006385)3.01845241
137termination of RNA polymerase III transcription (GO:0006386)3.01845241
138nucleobase biosynthetic process (GO:0046112)2.98911846
139cellular modified amino acid catabolic process (GO:0042219)2.98244003
140carnitine metabolic process (GO:0009437)2.98156196
141cholesterol efflux (GO:0033344)2.98043571
142negative regulation of complement activation (GO:0045916)2.97460697
143protein targeting to mitochondrion (GO:0006626)2.96888879
144DNA strand elongation involved in DNA replication (GO:0006271)2.95363582
145rRNA methylation (GO:0031167)2.94868703
146exogenous drug catabolic process (GO:0042738)2.94845129
147glutamate metabolic process (GO:0006536)2.94693307
148telomere maintenance via semi-conservative replication (GO:0032201)2.93049357
149platelet dense granule organization (GO:0060155)2.92355541
150ketone body metabolic process (GO:1902224)2.90731054
151cytochrome complex assembly (GO:0017004)2.90409828
152protein neddylation (GO:0045116)2.89821724
153L-serine metabolic process (GO:0006563)2.88449812
154regulation of ubiquitin-protein transferase activity (GO:0051438)2.88270599
155regulation of cellular amine metabolic process (GO:0033238)2.88181486
156exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.88162646
157spliceosomal snRNP assembly (GO:0000387)2.86384773
158histone exchange (GO:0043486)2.86339054
159peptidyl-histidine modification (GO:0018202)2.85785350
160nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.85230200
161negative regulation of coagulation (GO:0050819)2.84901700
162mitochondrial RNA metabolic process (GO:0000959)2.84421624
163organic acid catabolic process (GO:0016054)2.83838243
164carboxylic acid catabolic process (GO:0046395)2.83838243
165negative regulation of lipase activity (GO:0060192)2.82474495
166regulation of ligase activity (GO:0051340)2.81774630
167anterior/posterior axis specification, embryo (GO:0008595)2.79374125
168polyketide metabolic process (GO:0030638)2.79190515
169doxorubicin metabolic process (GO:0044598)2.79190515
170daunorubicin metabolic process (GO:0044597)2.79190515
171lysine catabolic process (GO:0006554)2.78436437
172lysine metabolic process (GO:0006553)2.78436437
173DNA strand elongation (GO:0022616)2.78098520
174protein-cofactor linkage (GO:0018065)2.78087095
175inner mitochondrial membrane organization (GO:0007007)2.76942396
176establishment of protein localization to mitochondrion (GO:0072655)2.76044615
177pigment metabolic process (GO:0042440)2.75278383
178protein localization to mitochondrion (GO:0070585)2.72528945
179ribosome assembly (GO:0042255)2.72414403
180mitotic metaphase plate congression (GO:0007080)2.72257325
181tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.70466470
182RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.70466470
183nucleotide transmembrane transport (GO:1901679)2.70027181
184DNA damage response, signal transduction by p53 class mediator (GO:0030330)2.69311854
185tRNA aminoacylation for protein translation (GO:0006418)2.67094699
186pteridine-containing compound biosynthetic process (GO:0042559)2.65487579
187mannosylation (GO:0097502)2.65154488
188tRNA aminoacylation (GO:0043039)2.64297779
189amino acid activation (GO:0043038)2.64297779
190replication fork processing (GO:0031297)2.63506443
191metaphase plate congression (GO:0051310)2.63347587
192ATP biosynthetic process (GO:0006754)2.62554596
193oxidative phosphorylation (GO:0006119)2.61064232
194purine nucleoside triphosphate biosynthetic process (GO:0009145)2.59205182
195melanosome organization (GO:0032438)2.56292422
196pseudouridine synthesis (GO:0001522)2.55859502

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse6.90844452
2RXR_22158963_ChIP-Seq_LIVER_Mouse4.70439838
3GABP_17652178_ChIP-ChIP_JURKAT_Human4.45112587
4EGR1_23403033_ChIP-Seq_LIVER_Mouse4.35936720
5TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse4.31707793
6E2F7_22180533_ChIP-Seq_HELA_Human4.18509135
7PPARA_22158963_ChIP-Seq_LIVER_Mouse4.15216909
8KLF5_18264089_ChIP-ChIP_MESCs_Mouse3.89330237
9KLF4_18264089_ChIP-ChIP_MESCs_Mouse3.89330237
10KLF2_18264089_ChIP-ChIP_MESCs_Mouse3.89330237
11PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.85724785
12JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.70876911
13LXR_22158963_ChIP-Seq_LIVER_Mouse3.53815773
14CEBPA_23403033_ChIP-Seq_LIVER_Mouse3.41244653
15NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.19698828
16ETS1_20019798_ChIP-Seq_JURKAT_Human3.11694723
17NANOG_18700969_ChIP-ChIP_MESCs_Mouse3.07258835
18TP63_17297297_ChIP-ChIP_HaCaT_Human3.06967779
19FOXO1_23066095_ChIP-Seq_LIVER_Mouse3.00784671
20HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.89348327
21E2F4_17652178_ChIP-ChIP_JURKAT_Human2.89074196
22POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.88619708
23ELK1_19687146_ChIP-ChIP_HELA_Human2.71447237
24E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.67601438
25FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.54748487
26CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.47735385
27SRF_21415370_ChIP-Seq_HL-1_Mouse2.47462085
28TRIM28_21343339_ChIP-Seq_HEK293_Human2.43601259
29MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.36141659
30DCP1A_22483619_ChIP-Seq_HELA_Human2.25390456
31CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.23263705
32VDR_23849224_ChIP-Seq_CD4+_Human2.17693798
33FOXM1_23109430_ChIP-Seq_U2OS_Human2.12793393
34TCF3_18692474_ChIP-Seq_MEFs_Mouse2.11534462
35HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.08953235
36NACC1_18358816_ChIP-ChIP_MESCs_Mouse2.08076672
37ESR1_15608294_ChIP-ChIP_MCF-7_Human2.06737929
38SMAD1_18555785_ChIP-Seq_MESCs_Mouse2.05546656
39NELFA_20434984_ChIP-Seq_ESCs_Mouse2.02840373
40ELF1_17652178_ChIP-ChIP_JURKAT_Human2.01161324
41FOXP3_21729870_ChIP-Seq_TREG_Human2.00926531
42PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.99838797
43RARG_19884340_ChIP-ChIP_MEFs_Mouse1.96565523
44THAP11_20581084_ChIP-Seq_MESCs_Mouse1.94765986
45PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.93382971
46GABP_19822575_ChIP-Seq_HepG2_Human1.91423107
47PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.90567939
48HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.88871315
49FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.88396808
50NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.87596998
51SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.82783020
52STAT3_1855785_ChIP-Seq_MESCs_Mouse1.80404189
53TCF3_18692474_ChIP-Seq_MESCs_Mouse1.78788672
54TTF2_22483619_ChIP-Seq_HELA_Human1.76981200
55NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.73115474
56PADI4_21655091_ChIP-ChIP_MCF-7_Human1.71737933
57SOX2_18555785_ChIP-Seq_MESCs_Mouse1.69650952
58SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.68552469
59CLOCK_20551151_ChIP-Seq_293T_Human1.67487632
60ESR1_21235772_ChIP-Seq_MCF-7_Human1.67242144
61MYC_18940864_ChIP-ChIP_HL60_Human1.66681697
62MYCN_18555785_ChIP-Seq_MESCs_Mouse1.62129932
63XRN2_22483619_ChIP-Seq_HELA_Human1.61840529
64* SOX2_18692474_ChIP-Seq_MEFs_Mouse1.60282509
65HOXB4_20404135_ChIP-ChIP_EML_Mouse1.58053823
66RBPJ_22232070_ChIP-Seq_NCS_Mouse1.52031449
67MYC_18555785_ChIP-Seq_MESCs_Mouse1.50750253
68* NANOG_18692474_ChIP-Seq_MEFs_Mouse1.50158537
69ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.48645525
70POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.47087764
71NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.46450374
72YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.44591183
73YY1_21170310_ChIP-Seq_MESCs_Mouse1.43510602
74SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.42907721
75KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.42108287
76ZNF263_19887448_ChIP-Seq_K562_Human1.41003107
77HIF1A_21447827_ChIP-Seq_MCF-7_Human1.40410113
78E2F1_21310950_ChIP-Seq_MCF-7_Human1.39722312
79ZNF274_21170338_ChIP-Seq_K562_Hela1.38644293
80MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.34729614
81VDR_22108803_ChIP-Seq_LS180_Human1.33298821
82MYC_19079543_ChIP-ChIP_MESCs_Mouse1.31800496
83CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.29271450
84OCT4_18692474_ChIP-Seq_MEFs_Mouse1.28815023
85TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.28239827
86ZFX_18555785_ChIP-Seq_MESCs_Mouse1.27943430
87EWS_26573619_Chip-Seq_HEK293_Human1.25450384
88KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.21588197
89TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.19197983
90* E2F1_18555785_ChIP-Seq_MESCs_Mouse1.17643646
91TFEB_21752829_ChIP-Seq_HELA_Human1.16432784
92ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.14848915
93KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.13283675
94ESR2_21235772_ChIP-Seq_MCF-7_Human1.13002977
95KDM5A_27292631_Chip-Seq_BREAST_Human1.12768965
96KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.11710335
97AR_21909140_ChIP-Seq_LNCAP_Human1.10706674
98SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.10344933
99* NANOG_18692474_ChIP-Seq_MESCs_Mouse1.08784180
100BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.08507417
101E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.06727422
102ELK1_22589737_ChIP-Seq_MCF10A_Human1.04485177
103MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.03336771
104FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.02430149
105* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.02277766
106ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.02060115
107CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.01792333
108ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.99276023
109EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.99223686
110* SOX2_18692474_ChIP-Seq_MESCs_Mouse0.98990079
111POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.98499537
112* SOX9_24532713_ChIP-Seq_HFSC_Mouse0.98106545
113DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.97408223
114SALL4_18804426_ChIP-ChIP_XEN_Mouse0.96643755
115MYC_18358816_ChIP-ChIP_MESCs_Mouse0.95299323
116NRF2_20460467_ChIP-Seq_MEFs_Mouse0.94693370
117NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.94693370
118* TCF7L2_21901280_ChIP-Seq_H4IIE_Rat0.93196592
119STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.92595699
120CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.92406631
121* SOX2_20726797_ChIP-Seq_SW620_Human0.91173571
122NANOG_16518401_ChIP-PET_MESCs_Mouse0.90647588
123BCAT_22108803_ChIP-Seq_LS180_Human0.90462055
124HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.89643164
125FUS_26573619_Chip-Seq_HEK293_Human0.89302413
126IRF1_19129219_ChIP-ChIP_H3396_Human0.89291360
127NANOG_18347094_ChIP-ChIP_MESCs_Mouse0.88902234
128ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.88706401
129ERG_21242973_ChIP-ChIP_JURKAT_Human0.87737434
130PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.87403866
131ERG_20887958_ChIP-Seq_HPC-7_Mouse0.86884368
132* STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.86474322
133SALL1_21062744_ChIP-ChIP_HESCs_Human0.86182345
134NANOG_18555785_ChIP-Seq_MESCs_Mouse0.86116868
135SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.85290330
136FLI1_27457419_Chip-Seq_LIVER_Mouse0.85256292
137CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.84492840
138POU5F1_16518401_ChIP-PET_MESCs_Mouse0.83193453
139NANOG_16153702_ChIP-ChIP_HESCs_Human0.82946146
140ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.82943613
141CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.82608974
142MYC_19030024_ChIP-ChIP_MESCs_Mouse0.82601606
143AR_20517297_ChIP-Seq_VCAP_Human0.81889775
144SOX2_27498859_Chip-Seq_STOMACH_Mouse0.81328681
145POU5F1_18692474_ChIP-Seq_MESCs_Mouse0.80360989
146TCF3_18347094_ChIP-ChIP_MESCs_Mouse0.79885966
147* PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.79749436
148SOX2_16153702_ChIP-ChIP_HESCs_Human0.78360662
149RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.77704407
150SOX17_20123909_ChIP-Seq_XEN_Mouse0.77575021
151* CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.77394108
152STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.75101357
153RAD21_21589869_ChIP-Seq_MESCs_Mouse0.74745508
154EST1_17652178_ChIP-ChIP_JURKAT_Human0.74546362
155FOXA1_25329375_ChIP-Seq_VCAP_Human0.74198573
156FOXA1_27270436_Chip-Seq_PROSTATE_Human0.74198573
157NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.74181549
158CREB1_15753290_ChIP-ChIP_HEK293T_Human0.74085219
159ELF5_23300383_ChIP-Seq_T47D_Human0.74048483
160MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.73570247
161WT1_19549856_ChIP-ChIP_CCG9911_Human0.73267339
162GATA3_24758297_ChIP-Seq_MCF-7_Human0.72836122
163EOMES_21245162_ChIP-Seq_HESCs_Human0.72228660
164SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.71110260
165SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.71110260
166ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.70300301
167GATA4_25053715_ChIP-Seq_YYC3_Human0.69649170

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000372_irregular_coat_pigmentation6.76270726
2MP0005171_absent_coat_pigmentation5.96046244
3MP0002139_abnormal_hepatobiliary_system5.67697429
4MP0003806_abnormal_nucleotide_metabolis5.20541356
5MP0005085_abnormal_gallbladder_physiolo5.13018735
6MP0005360_urolithiasis4.64642785
7MP0008875_abnormal_xenobiotic_pharmacok4.51571478
8MP0005075_abnormal_melanosome_morpholog3.84460823
9MP0005365_abnormal_bile_salt3.78453414
10MP0002938_white_spotting3.06115901
11MP0002822_catalepsy3.01266188
12MP0000015_abnormal_ear_pigmentation3.01189164
13MP0005083_abnormal_biliary_tract2.86600235
14MP0009697_abnormal_copulation2.77919194
15MP0002095_abnormal_skin_pigmentation2.67941387
16MP0000371_diluted_coat_color2.52832008
17MP0010094_abnormal_chromosome_stability2.48113715
18MP0005167_abnormal_blood-brain_barrier2.38654784
19MP0009840_abnormal_foam_cell2.38598217
20MP0001324_abnormal_eye_pigmentation2.24627004
21MP0002796_impaired_skin_barrier2.23764422
22MP0009379_abnormal_foot_pigmentation2.23482773
23MP0003186_abnormal_redox_activity2.19820749
24MP0010329_abnormal_lipoprotein_level2.16375342
25MP0005174_abnormal_tail_pigmentation2.14010625
26MP0002102_abnormal_ear_morphology2.12779386
27MP0002254_reproductive_system_inflammat2.07551515
28MP0004019_abnormal_vitamin_homeostasis2.05808240
29MP0003705_abnormal_hypodermis_morpholog2.04772538
30MP0003252_abnormal_bile_duct2.02265363
31MP0003941_abnormal_skin_development1.97056149
32MP0004133_heterotaxia1.96394853
33MP0003195_calcinosis1.94587826
34MP0004957_abnormal_blastocyst_morpholog1.92060103
35MP0010030_abnormal_orbit_morphology1.82727418
36MP0002837_dystrophic_cardiac_calcinosis1.80738290
37MP0003693_abnormal_embryo_hatching1.79819180
38MP0005332_abnormal_amino_acid1.79427278
39MP0002090_abnormal_vision1.78249758
40MP0002075_abnormal_coat/hair_pigmentati1.73538420
41MP0002877_abnormal_melanocyte_morpholog1.70070862
42MP0008058_abnormal_DNA_repair1.67608852
43MP0003111_abnormal_nucleus_morphology1.66431930
44MP0003011_delayed_dark_adaptation1.62933665
45MP0005275_abnormal_skin_tensile1.62419905
46MP0008932_abnormal_embryonic_tissue1.62026548
47MP0006036_abnormal_mitochondrial_physio1.60377463
48MP0005451_abnormal_body_composition1.56916662
49MP0002249_abnormal_larynx_morphology1.55483095
50MP0001186_pigmentation_phenotype1.55267449
51MP0003077_abnormal_cell_cycle1.48183398
52MP0002060_abnormal_skin_morphology1.43537619
53MP0002638_abnormal_pupillary_reflex1.42625440
54MP0005253_abnormal_eye_physiology1.42174601
55MP0003136_yellow_coat_color1.34691962
56MP0010368_abnormal_lymphatic_system1.33474842
57MP0005647_abnormal_sex_gland1.32800043
58MP0004272_abnormal_basement_membrane1.27071950
59MP0001542_abnormal_bone_strength1.24573277
60MP0005501_abnormal_skin_physiology1.23907994
61MP0000569_abnormal_digit_pigmentation1.23589031
62MP0001293_anophthalmia1.22853678
63MP0005408_hypopigmentation1.21034202
64MP0005257_abnormal_intraocular_pressure1.18450222
65MP0005248_abnormal_Harderian_gland1.18343072
66MP0004147_increased_porphyrin_level1.17119328
67MP0003191_abnormal_cellular_cholesterol1.17013970
68MP0000609_abnormal_liver_physiology1.16876228
69MP0006072_abnormal_retinal_apoptosis1.16667897
70MP0001764_abnormal_homeostasis1.16420368
71MP0005319_abnormal_enzyme/_coenzyme1.16158845
72MP0001666_abnormal_nutrient_absorption1.15547969
73MP0006054_spinal_hemorrhage1.13743732
74MP0002118_abnormal_lipid_homeostasis1.12479369
75MP0008007_abnormal_cellular_replicative1.12177190
76MP0002127_abnormal_cardiovascular_syste1.12069751
77MP0001984_abnormal_olfaction1.11721963
78MP0002332_abnormal_exercise_endurance1.11662839
79MP0000762_abnormal_tongue_morphology1.11470521
80MP0008789_abnormal_olfactory_epithelium1.10597518
81MP0003718_maternal_effect1.09168432
82MP0004883_abnormal_blood_vessel1.08241268
83MP0002138_abnormal_hepatobiliary_system1.04667065
84MP0000358_abnormal_cell_content/1.02623502
85MP0009053_abnormal_anal_canal1.02296727
86MP0005197_abnormal_uvea_morphology1.02007681
87MP0005376_homeostasis/metabolism_phenot1.01943472
88MP0004381_abnormal_hair_follicle0.99346451
89MP0000647_abnormal_sebaceous_gland0.97996769
90MP0005551_abnormal_eye_electrophysiolog0.97768209
91MP0003656_abnormal_erythrocyte_physiolo0.96687088
92MP0005266_abnormal_metabolism0.95372985
93MP0004858_abnormal_nervous_system0.94025689
94MP0001879_abnormal_lymphatic_vessel0.92171562
95MP0002160_abnormal_reproductive_system0.92161778
96MP0003646_muscle_fatigue0.91498682
97MP0003566_abnormal_cell_adhesion0.90195119
98MP0001346_abnormal_lacrimal_gland0.85370468
99MP0005391_vision/eye_phenotype0.83349143
100MP0010771_integument_phenotype0.82391542
101MP0003868_abnormal_feces_composition0.81577317
102MP0005367_renal/urinary_system_phenotyp0.78348190
103MP0000516_abnormal_urinary_system0.78348190
104MP0002735_abnormal_chemical_nociception0.77861336
105MP0005023_abnormal_wound_healing0.77313448
106MP0002653_abnormal_ependyma_morphology0.77008168
107MP0005164_abnormal_response_to0.76877442
108MP0004782_abnormal_surfactant_physiolog0.76590881
109MP0003786_premature_aging0.76560718
110MP0005670_abnormal_white_adipose0.75163198
111MP0008004_abnormal_stomach_pH0.74962497
112MP0002098_abnormal_vibrissa_morphology0.74432242
113MP0005377_hearing/vestibular/ear_phenot0.73179327
114MP0003878_abnormal_ear_physiology0.73179327
115MP0002295_abnormal_pulmonary_circulatio0.73077442
116MP0003638_abnormal_response/metabolism_0.72600536
117MP0000566_synostosis0.71970614
118MP0003567_abnormal_fetal_cardiomyocyte0.71714065
119MP0005195_abnormal_posterior_eye0.70945486
120MP0000049_abnormal_middle_ear0.69341919
121MP0005395_other_phenotype0.68832970
122MP0006276_abnormal_autonomic_nervous0.67936278
123MP0003279_aneurysm0.67558193
124MP0003890_abnormal_embryonic-extraembry0.67530151
125MP0008872_abnormal_physiological_respon0.67098345
126MP0005165_increased_susceptibility_to0.66752636
127MP0000537_abnormal_urethra_morphology0.66471188
128MP0005584_abnormal_enzyme/coenzyme_acti0.66135423
129MP0000579_abnormal_nail_morphology0.66097496
130MP0003950_abnormal_plasma_membrane0.65940523
131MP0004233_abnormal_muscle_weight0.65883447
132MP0002282_abnormal_trachea_morphology0.65422482
133MP0008877_abnormal_DNA_methylation0.64595420
134MP0005646_abnormal_pituitary_gland0.63701853
135MP0002132_abnormal_respiratory_system0.63598248
136MP0003937_abnormal_limbs/digits/tail_de0.63386097
137MP0003453_abnormal_keratinocyte_physiol0.63184227
138MP0008438_abnormal_cutaneous_collagen0.62879706
139MP0009643_abnormal_urine_homeostasis0.62407551
140MP0001243_abnormal_dermal_layer0.62319631
141MP0001216_abnormal_epidermal_layer0.62249169
142MP0000467_abnormal_esophagus_morphology0.62163354
143MP0005595_abnormal_vascular_smooth0.62161523
144MP0006035_abnormal_mitochondrial_morpho0.62041049
145MP0002177_abnormal_outer_ear0.61080413
146MP0009384_cardiac_valve_regurgitation0.60338647
147MP0005394_taste/olfaction_phenotype0.60259965
148MP0005499_abnormal_olfactory_system0.60259965
149MP0000538_abnormal_urinary_bladder0.59785280
150MP0000598_abnormal_liver_morphology0.59165860
151MP0001529_abnormal_vocalization0.58031475
152MP0006292_abnormal_olfactory_placode0.57901295
153MP0009046_muscle_twitch0.57166015
154MP0002736_abnormal_nociception_after0.54992966
155MP0002210_abnormal_sex_determination0.54948196
156MP0001929_abnormal_gametogenesis0.53923266
157MP0001697_abnormal_embryo_size0.53114932
158MP0005379_endocrine/exocrine_gland_phen0.52847100
159MP0002233_abnormal_nose_morphology0.50661067
160MP0001727_abnormal_embryo_implantation0.50381072
161MP0005389_reproductive_system_phenotype0.48321017
162MP0001485_abnormal_pinna_reflex0.48221860
163MP0010234_abnormal_vibrissa_follicle0.47749289
164MP0004215_abnormal_myocardial_fiber0.47061713
165MP0000427_abnormal_hair_cycle0.46128861
166MP0005193_abnormal_anterior_eye0.45113635
167MP0002111_abnormal_tail_morphology0.44704823
168MP0003755_abnormal_palate_morphology0.44025919
169MP0002085_abnormal_embryonic_tissue0.43980348
170MP0002092_abnormal_eye_morphology0.43357698
171MP0000653_abnormal_sex_gland0.42377849

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of monocarboxylic acid metabolism (HP:0010996)5.82010017
2Intrahepatic cholestasis (HP:0001406)5.52592261
3Abnormality of aromatic amino acid family metabolism (HP:0004338)4.98243460
4Hypoplasia of the fovea (HP:0007750)4.95708889
5Aplasia/Hypoplasia of the fovea (HP:0008060)4.95708889
6Hypobetalipoproteinemia (HP:0003563)4.94051848
7Patchy hypopigmentation of hair (HP:0011365)4.91486863
8White forelock (HP:0002211)4.61984439
9Xanthomatosis (HP:0000991)4.46503741
10Deep venous thrombosis (HP:0002625)4.42388968
11Abnormality of the fovea (HP:0000493)4.28078935
12Aplasia/Hypoplasia of the macula (HP:0008059)3.99430848
13Abnormality of pyrimidine metabolism (HP:0004353)3.83667523
14Hypolipoproteinemia (HP:0010981)3.74253835
15Prolonged partial thromboplastin time (HP:0003645)3.73443971
16Aplasia/Hypoplasia affecting the retina (HP:0008061)3.70075561
17Increased CSF lactate (HP:0002490)3.59962510
18Mitochondrial inheritance (HP:0001427)3.51542031
19Supernumerary spleens (HP:0009799)3.49804592
20Hyperglycinuria (HP:0003108)3.41504087
21Progressive macrocephaly (HP:0004481)3.37813651
22Epidermoid cyst (HP:0200040)3.33881142
23Hyperglycinemia (HP:0002154)3.25845372
24Abnormality of methionine metabolism (HP:0010901)3.23443112
25Hypoalphalipoproteinemia (HP:0003233)3.17888140
26Complement deficiency (HP:0004431)3.16707787
27Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.15837041
28Abnormality of glycine metabolism (HP:0010895)3.09126039
29Abnormality of serine family amino acid metabolism (HP:0010894)3.09126039
30Abnormal hemoglobin (HP:0011902)3.08229356
31Cerebral edema (HP:0002181)3.07914810
32Fat malabsorption (HP:0002630)3.04740209
33Hepatocellular necrosis (HP:0001404)3.04320033
34Hyperammonemia (HP:0001987)3.03779145
35Hepatic necrosis (HP:0002605)3.01210383
36Increased hepatocellular lipid droplets (HP:0006565)2.99305150
37Hyperlipoproteinemia (HP:0010980)2.97521596
38Abnormality of aspartate family amino acid metabolism (HP:0010899)2.91814936
39Lipid accumulation in hepatocytes (HP:0006561)2.90813693
40Stenosis of the external auditory canal (HP:0000402)2.88079743
41Joint hemorrhage (HP:0005261)2.87765180
42Delayed CNS myelination (HP:0002188)2.82817343
43Ocular albinism (HP:0001107)2.82069508
44Albinism (HP:0001022)2.79374659
45Parakeratosis (HP:0001036)2.78922962
46Abnormality of alanine metabolism (HP:0010916)2.75540278
47Hyperalaninemia (HP:0003348)2.75540278
48Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.75540278
49Increased serum lactate (HP:0002151)2.75229840
50Abnormality of glutamine family amino acid metabolism (HP:0010902)2.73444113
51Hypoglycemic coma (HP:0001325)2.73416032
52Abnormality of sulfur amino acid metabolism (HP:0004339)2.72247539
53Iris hypopigmentation (HP:0007730)2.68690047
54Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.68115460
55Decreased activity of mitochondrial respiratory chain (HP:0008972)2.68115460
56Conjugated hyperbilirubinemia (HP:0002908)2.68100801
57Abnormality of complement system (HP:0005339)2.67056947
58Lethargy (HP:0001254)2.64611825
59Generalized hypopigmentation (HP:0007513)2.61084547
60Vascular calcification (HP:0004934)2.59788186
61Steatorrhea (HP:0002570)2.56103821
62Lactic acidosis (HP:0003128)2.55739871
63Distal lower limb muscle weakness (HP:0009053)2.55119272
64Renal Fanconi syndrome (HP:0001994)2.45025718
65Blue irides (HP:0000635)2.44516489
66Type I transferrin isoform profile (HP:0003642)2.43155479
67Respiratory failure (HP:0002878)2.38704136
68Abnormality of the common coagulation pathway (HP:0010990)2.38114377
69Cardiovascular calcification (HP:0011915)2.34518585
70Acute encephalopathy (HP:0006846)2.32710832
71Alopecia of scalp (HP:0002293)2.32352581
72Abnormality of secondary sexual hair (HP:0009888)2.32169452
73Abnormality of the axillary hair (HP:0100134)2.32169452
74Aplasia/Hypoplasia of the sacrum (HP:0008517)2.31336869
75Pancreatic cysts (HP:0001737)2.29092417
76Leukodystrophy (HP:0002415)2.27902100
77Birth length less than 3rd percentile (HP:0003561)2.26449239
78Poor head control (HP:0002421)2.24912444
79Nausea (HP:0002018)2.24293799
80Meckel diverticulum (HP:0002245)2.24201599
81Hypercholesterolemia (HP:0003124)2.23065262
82Abnormality of the anterior horn cell (HP:0006802)2.23001104
83Degeneration of anterior horn cells (HP:0002398)2.23001104
84Abnormality of midbrain morphology (HP:0002418)2.21056855
85Molar tooth sign on MRI (HP:0002419)2.21056855
86Pancreatic fibrosis (HP:0100732)2.20744277
87Abnormality of serum amino acid levels (HP:0003112)2.20696285
88Methylmalonic aciduria (HP:0012120)2.20314757
89Back pain (HP:0003418)2.17297143
90Hypothermia (HP:0002045)2.17263606
91Ketosis (HP:0001946)2.16739540
92Premature graying of hair (HP:0002216)2.16376335
93Abnormality of the intrinsic pathway (HP:0010989)2.15946379
94Chromosomal breakage induced by crosslinking agents (HP:0003221)2.15494956
95Abnormal ciliary motility (HP:0012262)2.14416435
96Abnormality of the ileum (HP:0001549)2.14364105
97Acute necrotizing encephalopathy (HP:0006965)2.13766786
98Abnormality of nucleobase metabolism (HP:0010932)2.13332371
99Abnormal respiratory motile cilium physiology (HP:0012261)2.13035113
100Abnormal protein N-linked glycosylation (HP:0012347)2.12423650
101Abnormal protein glycosylation (HP:0012346)2.12423650
102Abnormal glycosylation (HP:0012345)2.12423650
103Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.12423650
104Abnormal number of erythroid precursors (HP:0012131)2.10706801
105True hermaphroditism (HP:0010459)2.10575806
106Chromsome breakage (HP:0040012)2.08127481
107Esophageal varix (HP:0002040)2.07462000
108Right ventricular cardiomyopathy (HP:0011663)2.05904794
109Adrenal hypoplasia (HP:0000835)2.05858067
110Neonatal onset (HP:0003623)2.04953304
111Absent radius (HP:0003974)2.04735994
112Exercise intolerance (HP:0003546)2.02537485
113Hypokinesia (HP:0002375)2.02232757
114Hypochromic microcytic anemia (HP:0004840)2.02049349
115Aplasia/Hypoplasia of the uvula (HP:0010293)2.01806988
116Large for gestational age (HP:0001520)2.01729530
117Cerebral hypomyelination (HP:0006808)2.01603093
118Abnormal respiratory epithelium morphology (HP:0012253)2.01497139
119Abnormal respiratory motile cilium morphology (HP:0005938)2.01497139
120Facial cleft (HP:0002006)2.01350301
121Abnormal auditory evoked potentials (HP:0006958)1.99461174
122Dicarboxylic aciduria (HP:0003215)1.99005875
123Abnormality of dicarboxylic acid metabolism (HP:0010995)1.99005875
124Hepatocellular carcinoma (HP:0001402)1.98414185
125Spastic paraparesis (HP:0002313)1.98332397
126Rickets (HP:0002748)1.97966813
127Sparse eyelashes (HP:0000653)1.97601925
128Hyperbilirubinemia (HP:0002904)1.97146512
129Cholelithiasis (HP:0001081)1.96011737
130Methylmalonic acidemia (HP:0002912)1.95425306
131Myocardial infarction (HP:0001658)1.95232089
132CNS demyelination (HP:0007305)1.95074434
133Increased intramyocellular lipid droplets (HP:0012240)1.93813895
134Cutaneous melanoma (HP:0012056)1.93612655
135Asplenia (HP:0001746)1.93605960
136Reticulocytopenia (HP:0001896)1.92457275
1373-Methylglutaconic aciduria (HP:0003535)1.91844746
138Abnormal gallbladder morphology (HP:0012437)1.90898549
139Abnormality of chromosome stability (HP:0003220)1.90229388
140Optic disc pallor (HP:0000543)1.89270130
141Absent forearm bone (HP:0003953)1.89004064
142Aplasia involving forearm bones (HP:0009822)1.89004064
143Abnormal lung lobation (HP:0002101)1.88865495
144Skin nodule (HP:0200036)1.88662956
145Metabolic acidosis (HP:0001942)1.88412836
146Malnutrition (HP:0004395)1.87144473
147Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.86556004
148Spontaneous abortion (HP:0005268)1.85187980
149Congenital, generalized hypertrichosis (HP:0004540)1.84121055
150Abnormality of cells of the erythroid lineage (HP:0012130)1.83021758
151Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.82638954
152Megaloblastic anemia (HP:0001889)1.81479835
153Chronic bronchitis (HP:0004469)1.81391270
154Abdominal situs inversus (HP:0003363)1.81336181
155Abnormality of abdominal situs (HP:0011620)1.81336181
156Abnormality of glycolysis (HP:0004366)1.80213300
157Increased serum pyruvate (HP:0003542)1.80213300
158Vomiting (HP:0002013)1.79360157
159Rhinitis (HP:0012384)1.79323692
160Testicular atrophy (HP:0000029)1.79190958
161Respiratory distress (HP:0002098)1.78468028
162Confusion (HP:0001289)1.76678245
163Nephronophthisis (HP:0000090)1.76379792
164Reduced antithrombin III activity (HP:0001976)1.75889833
165Abnormality of iron homeostasis (HP:0011031)1.74508354
166Abnormal mitochondria in muscle tissue (HP:0008316)1.74166214
167Hypopigmentation of the fundus (HP:0007894)1.72364536
168Bile duct proliferation (HP:0001408)1.71706430
169Abnormal biliary tract physiology (HP:0012439)1.71706430
170Abnormality of the preputium (HP:0100587)1.71013597
171Recurrent corneal erosions (HP:0000495)1.70008287
172Hypoplasia of the capital femoral epiphysis (HP:0003090)1.69958198
173Small intestinal stenosis (HP:0012848)1.69777170
174Duodenal stenosis (HP:0100867)1.69777170
175Irritability (HP:0000737)1.69674451
176Spastic diplegia (HP:0001264)1.68311089
177Aplasia/Hypoplasia of the spleen (HP:0010451)1.68298586
178Natal tooth (HP:0000695)1.68050602
179Cortical dysplasia (HP:0002539)1.64451086
180Ulnar claw (HP:0001178)1.64016374

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ACVR1B4.64712866
2GRK13.70442484
3MST42.91370925
4LATS22.84744415
5VRK22.68623301
6EPHA22.68499964
7EIF2AK12.67376221
8GRK52.59282249
9EPHB22.58727541
10MAPKAPK32.57435008
11BCKDK2.55634702
12PBK2.54112399
13GRK72.49800885
14NME22.48750728
15STK162.41027817
16AKT32.36191531
17CASK2.26721132
18CDC72.02519111
19EIF2AK32.02496010
20RPS6KB21.90023390
21FER1.84818811
22MST1R1.79777073
23TRIM281.77103765
24ERBB41.64843557
25MAP4K21.64306787
26NUAK11.64305321
27NME11.56105288
28PLK21.45331194
29MOS1.42830135
30AURKA1.39394361
31DAPK21.34212024
32CSNK1G31.32427152
33ADRBK21.32337923
34BRSK21.29353539
35BCR1.28705430
36STK38L1.28593121
37TLK11.28438013
38MAP2K11.28296995
39FRK1.26998260
40NTRK11.25780934
41MAP2K21.25010215
42MAP3K31.22091240
43MYLK1.21448872
44CSNK1G21.21053127
45MAPK151.20559268
46MATK1.20492108
47CSNK1G11.18727077
48MET1.15559555
49TRPM71.15031629
50NEK91.12644510
51BUB11.08640837
52TGFBR21.05803729
53EPHA31.03300657
54FGFR41.01137176
55WNK31.00899626
56BRSK10.99460223
57CHEK20.99231920
58ADRBK10.98295286
59CSNK1A1L0.97558993
60MAP3K120.97392632
61WEE10.91287605
62INSRR0.90136147
63NEK10.89160825
64CCNB10.88563255
65ATR0.88281867
66TGFBR10.85664461
67PAK40.82062474
68MAP2K40.81900317
69PIK3CG0.81375098
70PASK0.80831208
71MAP3K110.80458072
72CDK60.78934918
73PTK60.78712757
74PTK20.77989946
75MKNK20.74803472
76ABL20.74678062
77STK390.73492586
78ZAK0.72292234
79TAF10.70891599
80ERBB20.70460520
81TTK0.70007216
82CDK70.69796920
83ERN10.68672896
84STK100.68007876
85PDK20.67282838
86MARK30.67222296
87BMPR1B0.66631237
88KDR0.66118740
89PTK2B0.65637954
90SRPK10.65528633
91NEK20.65015101
92MKNK10.63102946
93PLK40.62635228
94GSK3A0.62540291
95WNK40.61360206
96PNCK0.60575601
97DYRK20.59813109
98CAMK2G0.59460181
99ERBB30.59051679
100LRRK20.58333400
101MAPKAPK50.57791677
102CSNK2A20.56921184
103BMPR20.56669699
104MAPKAPK20.56451669
105MAP3K20.55610891
106TSSK60.54830644
107CDK80.54247423
108PRKCG0.53883716
109PRKCI0.53445340
110CSNK2A10.52568319
111CSNK1E0.50704111
112FLT30.50183685
113TIE10.50018514
114DDR20.49191808
115STK30.47523978
116PIM20.47098752
117DAPK30.46527038
118PLK10.46475022
119PRKD30.45616546
120VRK10.45419112
121PRKCE0.45127578
122PRKD10.44932982
123CDK30.44906355
124ATM0.44345524
125PINK10.43211248
126AURKB0.43041935
127EIF2AK20.42119917
128PLK30.40507775
129PRKACG0.40454141
130SIK10.39993112
131PAK10.39802814
132RPS6KA50.39675948
133LIMK10.38982160
134CSNK1A10.38258268
135CDK120.38188832
136LATS10.36848205
137MAPK40.36760717
138PDK40.36074300
139PDK30.36074300
140OXSR10.34949873
141CAMK2D0.31949689
142AKT20.29515897
143RPS6KA40.28777055
144MUSK0.27686815
145CHEK10.27567579
146FGFR10.26473130
147IRAK30.26384546
148DAPK10.22951878
149MAP3K80.22938296

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001203.78273872
2Drug metabolism - cytochrome P450_Homo sapiens_hsa009823.25125868
3Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009803.02945265
4Chemical carcinogenesis_Homo sapiens_hsa052042.87806565
5Phenylalanine metabolism_Homo sapiens_hsa003602.64006115
6Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.62205617
7Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.54197323
8Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.51522676
9Arginine biosynthesis_Homo sapiens_hsa002202.49470490
10Tyrosine metabolism_Homo sapiens_hsa003502.41501200
11Protein export_Homo sapiens_hsa030602.40666999
12Tryptophan metabolism_Homo sapiens_hsa003802.38344450
13Homologous recombination_Homo sapiens_hsa034402.34622431
14Complement and coagulation cascades_Homo sapiens_hsa046102.32207703
15Histidine metabolism_Homo sapiens_hsa003402.23823361
16Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.20029421
17Fatty acid degradation_Homo sapiens_hsa000711.97079905
18Nitrogen metabolism_Homo sapiens_hsa009101.95921623
19Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.92914331
20Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.88357471
21Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.87516576
22Retinol metabolism_Homo sapiens_hsa008301.82885775
23Peroxisome_Homo sapiens_hsa041461.78224105
24Pentose and glucuronate interconversions_Homo sapiens_hsa000401.74809329
25Glutathione metabolism_Homo sapiens_hsa004801.73635605
26Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.73618691
27Steroid hormone biosynthesis_Homo sapiens_hsa001401.72034469
28Fanconi anemia pathway_Homo sapiens_hsa034601.70530530
29Drug metabolism - other enzymes_Homo sapiens_hsa009831.70311060
30Caffeine metabolism_Homo sapiens_hsa002321.66828030
31Ribosome_Homo sapiens_hsa030101.66081838
32Non-homologous end-joining_Homo sapiens_hsa034501.62524801
33Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.51280186
34PPAR signaling pathway_Homo sapiens_hsa033201.51235816
35Proteasome_Homo sapiens_hsa030501.50816489
36Propanoate metabolism_Homo sapiens_hsa006401.50706861
37Base excision repair_Homo sapiens_hsa034101.50669956
38Pyruvate metabolism_Homo sapiens_hsa006201.49951589
39Cysteine and methionine metabolism_Homo sapiens_hsa002701.48235310
40beta-Alanine metabolism_Homo sapiens_hsa004101.47631697
412-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.42933327
42Selenocompound metabolism_Homo sapiens_hsa004501.35029331
43Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.33827094
44One carbon pool by folate_Homo sapiens_hsa006701.31544050
45Oxidative phosphorylation_Homo sapiens_hsa001901.30078775
46Basal transcription factors_Homo sapiens_hsa030221.28841324
47Bile secretion_Homo sapiens_hsa049761.24870229
48Butanoate metabolism_Homo sapiens_hsa006501.22131614
49Biosynthesis of amino acids_Homo sapiens_hsa012301.21846041
50Sulfur metabolism_Homo sapiens_hsa009201.20308056
51Cyanoamino acid metabolism_Homo sapiens_hsa004601.20074850
52RNA transport_Homo sapiens_hsa030131.19033413
53Fatty acid metabolism_Homo sapiens_hsa012121.17204352
54Fatty acid elongation_Homo sapiens_hsa000621.15933635
55Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.13531854
56Arginine and proline metabolism_Homo sapiens_hsa003301.13483728
57RNA degradation_Homo sapiens_hsa030181.10472945
58Carbon metabolism_Homo sapiens_hsa012001.10381144
59Folate biosynthesis_Homo sapiens_hsa007901.08246044
60Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.08112261
61Spliceosome_Homo sapiens_hsa030401.07714103
62Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.03190964
63Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.98167264
64Fat digestion and absorption_Homo sapiens_hsa049750.97671376
65Parkinsons disease_Homo sapiens_hsa050120.97626099
66Starch and sucrose metabolism_Homo sapiens_hsa005000.93289785
67Cell cycle_Homo sapiens_hsa041100.91047308
68Huntingtons disease_Homo sapiens_hsa050160.88950443
69Sulfur relay system_Homo sapiens_hsa041220.86608149
70Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.85454293
71Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.81905858
72Steroid biosynthesis_Homo sapiens_hsa001000.81546989
73N-Glycan biosynthesis_Homo sapiens_hsa005100.79742776
74Staphylococcus aureus infection_Homo sapiens_hsa051500.78982328
75Vitamin B6 metabolism_Homo sapiens_hsa007500.78285023
76Linoleic acid metabolism_Homo sapiens_hsa005910.72126280
77Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.72095912
78Metabolic pathways_Homo sapiens_hsa011000.68317790
79ABC transporters_Homo sapiens_hsa020100.67454000
80Pyrimidine metabolism_Homo sapiens_hsa002400.64205284
81alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.64168020
82Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.63673549
83Collecting duct acid secretion_Homo sapiens_hsa049660.63604177
84Maturity onset diabetes of the young_Homo sapiens_hsa049500.60586947
85Alzheimers disease_Homo sapiens_hsa050100.59209158
86Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.55643418
87Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.54160785
88Arachidonic acid metabolism_Homo sapiens_hsa005900.53699693
89Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.53663167
90p53 signaling pathway_Homo sapiens_hsa041150.53015507
91Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.50760019
92Fructose and mannose metabolism_Homo sapiens_hsa000510.50742397
93Vitamin digestion and absorption_Homo sapiens_hsa049770.45300420
94Glycosaminoglycan degradation_Homo sapiens_hsa005310.41993541
95Phototransduction_Homo sapiens_hsa047440.41504358
96Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.38681083
97Mismatch repair_Homo sapiens_hsa034300.36869297
98Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.35162955
99RNA polymerase_Homo sapiens_hsa030200.34908141
100Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.34756071
101Glycerolipid metabolism_Homo sapiens_hsa005610.34321537
102Regulation of autophagy_Homo sapiens_hsa041400.33519669
103Fatty acid biosynthesis_Homo sapiens_hsa000610.32790198
104Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.32612542
105Nucleotide excision repair_Homo sapiens_hsa034200.29593534
106TGF-beta signaling pathway_Homo sapiens_hsa043500.28073675
107Prion diseases_Homo sapiens_hsa050200.27423256
108Galactose metabolism_Homo sapiens_hsa000520.27235700
109Pentose phosphate pathway_Homo sapiens_hsa000300.25496499
110Basal cell carcinoma_Homo sapiens_hsa052170.23629562
111Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.20641098
112Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.17454047
113Hippo signaling pathway_Homo sapiens_hsa043900.16551119
114Bladder cancer_Homo sapiens_hsa052190.12226642
115Mineral absorption_Homo sapiens_hsa049780.10861948
116Cardiac muscle contraction_Homo sapiens_hsa042600.09097416
117Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.09031641
118DNA replication_Homo sapiens_hsa030300.08637233
119Thyroid cancer_Homo sapiens_hsa052160.08494297
120Purine metabolism_Homo sapiens_hsa002300.08433614
121ECM-receptor interaction_Homo sapiens_hsa045120.08217551
122Glucagon signaling pathway_Homo sapiens_hsa049220.05072421
123Melanoma_Homo sapiens_hsa052180.04964582

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