SUMF2

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





Description: The catalytic sites of sulfatases are only active if they contain a unique amino acid, C-alpha-formylglycine (FGly). The FGly residue is posttranslationally generated from a cysteine by enzymes with FGly-generating activity. The gene described in this record is a member of the sulfatase-modifying factor family and encodes a protein with a DUF323 domain that localizes to the lumen of the endoplasmic reticulum. This protein has low levels of FGly-generating activity but can heterodimerize with another family member - a protein with high levels of FGly-generating activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1Golgi transport vesicle coating (GO:0048200)6.11162446
2COPI coating of Golgi vesicle (GO:0048205)6.11162446
3proteasome assembly (GO:0043248)5.11094971
4protein maturation by protein folding (GO:0022417)4.95170527
5DNA deamination (GO:0045006)4.67611323
6telomere maintenance via semi-conservative replication (GO:0032201)4.55052635
7DNA strand elongation involved in DNA replication (GO:0006271)4.34518269
8maintenance of protein localization in endoplasmic reticulum (GO:0035437)4.33705044
9ribosomal small subunit biogenesis (GO:0042274)4.33454266
10regulation of nuclear cell cycle DNA replication (GO:0033262)4.32176739
11DNA replication checkpoint (GO:0000076)4.31363057
12protein retention in ER lumen (GO:0006621)4.31035973
13ribosome assembly (GO:0042255)4.30327537
14termination of RNA polymerase III transcription (GO:0006386)4.27508523
15transcription elongation from RNA polymerase III promoter (GO:0006385)4.27508523
16maturation of SSU-rRNA (GO:0030490)4.24902837
17ribosomal large subunit biogenesis (GO:0042273)4.24228618
18rRNA modification (GO:0000154)4.23814106
19DNA strand elongation (GO:0022616)4.13700099
20telomere maintenance via recombination (GO:0000722)4.09426239
21ribonucleoprotein complex biogenesis (GO:0022613)4.04201521
22DNA replication initiation (GO:0006270)4.03310302
23CENP-A containing nucleosome assembly (GO:0034080)4.00903935
24negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.95162684
25chromatin remodeling at centromere (GO:0031055)3.89660829
26ribosome biogenesis (GO:0042254)3.87357987
27ribosomal small subunit assembly (GO:0000028)3.85329122
287-methylguanosine mRNA capping (GO:0006370)3.83940086
29regulation of metalloenzyme activity (GO:0048552)3.83418767
30mitotic metaphase plate congression (GO:0007080)3.81964191
31RNA capping (GO:0036260)3.81858154
327-methylguanosine RNA capping (GO:0009452)3.81858154
33kinetochore assembly (GO:0051382)3.79124022
34telomere maintenance via telomere lengthening (GO:0010833)3.79007202
35mitotic recombination (GO:0006312)3.75774526
36maturation of 5.8S rRNA (GO:0000460)3.72465739
37termination of RNA polymerase I transcription (GO:0006363)3.68726326
38GDP-mannose metabolic process (GO:0019673)3.68338152
39kinetochore organization (GO:0051383)3.64796098
40transcription-coupled nucleotide-excision repair (GO:0006283)3.64116218
41spliceosomal snRNP assembly (GO:0000387)3.61276398
42regulation of double-strand break repair via homologous recombination (GO:0010569)3.57886961
43transcription from RNA polymerase I promoter (GO:0006360)3.57404091
44negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.57235345
45nucleobase biosynthetic process (GO:0046112)3.56742604
46DNA damage response, detection of DNA damage (GO:0042769)3.55382575
47transcription elongation from RNA polymerase I promoter (GO:0006362)3.54861095
48rRNA processing (GO:0006364)3.53048945
49purine nucleobase biosynthetic process (GO:0009113)3.48478031
50deoxyribonucleotide biosynthetic process (GO:0009263)3.46060187
51nucleotide-excision repair, DNA gap filling (GO:0006297)3.45114019
52anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.44955627
53viral transcription (GO:0019083)3.44905324
54positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.44900127
55regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.42588664
56rRNA metabolic process (GO:0016072)3.42145944
57keratan sulfate catabolic process (GO:0042340)3.38400870
58translational termination (GO:0006415)3.36445973
59rRNA methylation (GO:0031167)3.36214593
60pseudouridine synthesis (GO:0001522)3.33731257
61RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.32645917
62tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.32645917
63formation of translation preinitiation complex (GO:0001731)3.31046752
64establishment of integrated proviral latency (GO:0075713)3.30621983
65DNA replication-independent nucleosome assembly (GO:0006336)3.29803593
66DNA replication-independent nucleosome organization (GO:0034724)3.29803593
67spliceosomal complex assembly (GO:0000245)3.28872197
68oligosaccharide catabolic process (GO:0009313)3.27854808
69negative regulation of ligase activity (GO:0051352)3.27253507
70negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.27253507
71DNA-dependent DNA replication (GO:0006261)3.27016830
72exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.26851870
73endoplasmic reticulum calcium ion homeostasis (GO:0032469)3.25400821
74mitochondrial DNA replication (GO:0006264)3.25199043
75erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.24931277
76L-phenylalanine metabolic process (GO:0006558)3.24931277
77cellular component biogenesis (GO:0044085)3.24056003
78metaphase plate congression (GO:0051310)3.23895068
79signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.21941707
80signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.21941707
81signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.21941707
82retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)3.21166807
83nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.16843612
84signal transduction involved in DNA integrity checkpoint (GO:0072401)3.15947068
85signal transduction involved in DNA damage checkpoint (GO:0072422)3.15947068
86translation (GO:0006412)3.15679492
87tRNA methylation (GO:0030488)3.15249998
88signal transduction involved in cell cycle checkpoint (GO:0072395)3.14083876
89regulation of extracellular matrix disassembly (GO:0010715)3.13062544
90DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.12841027
91transcription initiation from RNA polymerase I promoter (GO:0006361)3.12177884
92type B pancreatic cell proliferation (GO:0044342)3.10133946
93histone exchange (GO:0043486)3.09629863
94deoxyribonucleoside diphosphate metabolic process (GO:0009186)3.08766676
95translational initiation (GO:0006413)3.08732931
96intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.08402722
97signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.08402722
98SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.07690540
99deoxyribonucleoside triphosphate metabolic process (GO:0009200)3.07031996
100cullin deneddylation (GO:0010388)3.06441187
101regulation of mitochondrial translation (GO:0070129)3.06394034
102cotranslational protein targeting to membrane (GO:0006613)3.03679445
103IMP biosynthetic process (GO:0006188)3.02796630
104deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.00899850
105RNA methylation (GO:0001510)2.99830017
106translational elongation (GO:0006414)2.99682847
107protein targeting to ER (GO:0045047)2.98873761
108UV protection (GO:0009650)2.98779198
109protein K6-linked ubiquitination (GO:0085020)2.98155369
110glycosphingolipid catabolic process (GO:0046479)2.97697117
111DNA-templated transcription, termination (GO:0006353)2.97527906
112DNA double-strand break processing (GO:0000729)2.97441741
113establishment of chromosome localization (GO:0051303)2.97094707
114negative regulation of DNA-dependent DNA replication (GO:2000104)2.96691801
115amyloid precursor protein catabolic process (GO:0042987)2.95378868
116positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.94238576
117transcription elongation from RNA polymerase II promoter (GO:0006368)2.94144174
118regulation of cellular amino acid metabolic process (GO:0006521)2.93168779
119ncRNA processing (GO:0034470)2.92792763
120glucose catabolic process (GO:0006007)2.87109984
121negative regulation of cell size (GO:0045792)2.81280145
122pentose-phosphate shunt (GO:0006098)2.79228228
123proline biosynthetic process (GO:0006561)2.75874557
124glycolipid catabolic process (GO:0019377)2.75213436
125desmosome organization (GO:0002934)2.70043622
126amino sugar catabolic process (GO:0046348)2.70007850
127mannose metabolic process (GO:0006013)2.68740661
128hyaluronan catabolic process (GO:0030214)2.67870409
129regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022352.67623278
130membrane protein ectodomain proteolysis (GO:0006509)2.67260327
131regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.65241162
132COPII vesicle coating (GO:0048208)2.62425319
133membrane raft organization (GO:0031579)2.61500501
134skin morphogenesis (GO:0043589)2.60647212
135sphingolipid catabolic process (GO:0030149)2.60488794
136activation of signaling protein activity involved in unfolded protein response (GO:0006987)2.60442496
137positive regulation of mitochondrial calcium ion concentration (GO:0051561)2.59746498
138negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)2.54698305
139membrane lipid catabolic process (GO:0046466)2.53968025
140zinc ion transmembrane transport (GO:0071577)2.53374766
141regulation of apoptotic process involved in morphogenesis (GO:1902337)2.52375044
142ceramide catabolic process (GO:0046514)2.51448249
143xenobiotic catabolic process (GO:0042178)2.48931079
144nucleoside transmembrane transport (GO:1901642)2.48848611
145pinocytosis (GO:0006907)2.47203117
146response to thyroid hormone (GO:0097066)2.46921566
147erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)2.46739577
148L-phenylalanine catabolic process (GO:0006559)2.46739577
149positive regulation of nuclease activity (GO:0032075)2.44470136
150membrane protein intracellular domain proteolysis (GO:0031293)2.44323748
151purine ribonucleotide transport (GO:0015868)2.43769166
152protein N-linked glycosylation via asparagine (GO:0018279)2.43183313
153glucosamine-containing compound catabolic process (GO:1901072)2.41507049
154peptidyl-asparagine modification (GO:0018196)2.41471395
155NADH metabolic process (GO:0006734)2.40831420
156cell adhesion mediated by integrin (GO:0033627)2.39271793
157endoplasmic reticulum unfolded protein response (GO:0030968)2.37664840
158protein N-linked glycosylation (GO:0006487)2.37054303
159response to testosterone (GO:0033574)2.36848036
160amyloid precursor protein metabolic process (GO:0042982)2.35192287
161regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.35190498
162nuclear envelope reassembly (GO:0031468)2.34493231
163mitotic nuclear envelope reassembly (GO:0007084)2.34493231
164glutathione biosynthetic process (GO:0006750)2.32609684
165sphingosine metabolic process (GO:0006670)2.32312473
166barbed-end actin filament capping (GO:0051016)2.30711452
167diol metabolic process (GO:0034311)2.30309235
168cellular response to unfolded protein (GO:0034620)2.29890483
169negative regulation of nitric oxide biosynthetic process (GO:0045019)2.28660954
170lipopolysaccharide biosynthetic process (GO:0009103)2.28141244
171NADPH regeneration (GO:0006740)2.25245479
172ER overload response (GO:0006983)2.24688415
173mannosylation (GO:0097502)2.22575925
174vesicle coating (GO:0006901)2.22132880
175maintenance of protein localization in organelle (GO:0072595)2.21447370
176nucleotide transmembrane transport (GO:1901679)2.20680799
177ER-nucleus signaling pathway (GO:0006984)2.18979709
178valine metabolic process (GO:0006573)2.18739688
179cellular zinc ion homeostasis (GO:0006882)2.18565592
180regulation of nuclease activity (GO:0032069)2.18381711
181negative regulation of complement activation (GO:0045916)2.18237758
182C-terminal protein lipidation (GO:0006501)2.18011247
183cellular response to topologically incorrect protein (GO:0035967)2.17034942
184nucleoside transport (GO:0015858)2.15869176
185endosome to melanosome transport (GO:0035646)2.15161070
186endosome to pigment granule transport (GO:0043485)2.15161070
187ER to Golgi vesicle-mediated transport (GO:0006888)2.14785183
188iron ion import (GO:0097286)2.14362891
189protein hydroxylation (GO:0018126)2.14328417
190decidualization (GO:0046697)2.14234594
191peptidyl-proline hydroxylation (GO:0019511)2.13630914
192purine nucleotide transport (GO:0015865)2.12921695
193adenine nucleotide transport (GO:0051503)2.12273621
194glutamine family amino acid biosynthetic process (GO:0009084)2.12187267
195sphingoid metabolic process (GO:0046519)2.11582022
196basement membrane organization (GO:0071711)2.11179194
197negative regulation of nitric-oxide synthase activity (GO:0051001)2.10239026
198apoptotic cell clearance (GO:0043277)2.09798598
199nucleotide-sugar biosynthetic process (GO:0009226)2.09759150

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human7.14026564
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.48243332
3MYC_18555785_ChIP-Seq_MESCs_Mouse4.37939352
4GABP_17652178_ChIP-ChIP_JURKAT_Human3.78867906
5EST1_17652178_ChIP-ChIP_JURKAT_Human3.69327525
6* JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.58012597
7E2F4_17652178_ChIP-ChIP_JURKAT_Human3.51718211
8ETS1_20019798_ChIP-Seq_JURKAT_Human3.34184905
9MYC_19079543_ChIP-ChIP_MESCs_Mouse3.02096877
10MYC_18358816_ChIP-ChIP_MESCs_Mouse3.00452310
11* MYC_19030024_ChIP-ChIP_MESCs_Mouse3.00072807
12NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.92918665
13FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.89371125
14CREB1_15753290_ChIP-ChIP_HEK293T_Human2.88160761
15FOXM1_23109430_ChIP-Seq_U2OS_Human2.88106775
16EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.84973337
17HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.84215956
18CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.74919199
19* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.65624213
20PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.63415785
21TP63_17297297_ChIP-ChIP_HaCaT_Human2.61683877
22RARG_19884340_ChIP-ChIP_MEFs_Mouse2.58649965
23CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.54055865
24* VDR_23849224_ChIP-Seq_CD4+_Human2.47236723
25TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.41569998
26NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.39176350
27* NELFA_20434984_ChIP-Seq_ESCs_Mouse2.38221077
28ELF1_17652178_ChIP-ChIP_JURKAT_Human2.33399067
29SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.28768467
30MYBL2_22936984_ChIP-ChIP_MESCs_Mouse2.28592634
31* XRN2_22483619_ChIP-Seq_HELA_Human2.27057927
32* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.24724747
33DCP1A_22483619_ChIP-Seq_HELA_Human2.14209111
34MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.13435197
35E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.13125933
36FOXP3_21729870_ChIP-Seq_TREG_Human2.10838792
37ZNF263_19887448_ChIP-Seq_K562_Human2.10712305
38ELK1_19687146_ChIP-ChIP_HELA_Human2.10493118
39YY1_21170310_ChIP-Seq_MESCs_Mouse2.10445665
40TTF2_22483619_ChIP-Seq_HELA_Human2.05100331
41THAP11_20581084_ChIP-Seq_MESCs_Mouse2.04601737
42ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.01792903
43IRF8_22096565_ChIP-ChIP_GC-B_Human2.00465632
44SRF_21415370_ChIP-Seq_HL-1_Mouse1.99979149
45NANOG_18555785_ChIP-Seq_MESCs_Mouse1.97848920
46MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.97062721
47HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.96401373
48RACK7_27058665_Chip-Seq_MCF-7_Human1.95570146
49TRIM28_21343339_ChIP-Seq_HEK293_Human1.92167645
50ELK3_25401928_ChIP-Seq_HUVEC_Human1.91885873
51LXR_22292898_ChIP-Seq_THP-1_Human1.91049439
52ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.85736577
53HIF1A_21447827_ChIP-Seq_MCF-7_Human1.81027412
54CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.81019510
55POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.78607937
56YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.76557431
57MYCN_18555785_ChIP-Seq_MESCs_Mouse1.75591758
58POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.75346978
59RXR_22158963_ChIP-Seq_LIVER_Mouse1.75329128
60TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.74966621
61GABP_19822575_ChIP-Seq_HepG2_Human1.74632067
62KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.70148471
63KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.70148471
64KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.70148471
65FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.68054552
66TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.64871056
67PPARA_22158963_ChIP-Seq_LIVER_Mouse1.64283187
68TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.61933107
69TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.61584758
70* DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.59440598
71SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.57047257
72* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.54019191
73TP63_19390658_ChIP-ChIP_HaCaT_Human1.53559926
74CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.50649941
75HOXB4_20404135_ChIP-ChIP_EML_Mouse1.49490412
76PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.48977853
77E2F1_21310950_ChIP-Seq_MCF-7_Human1.48963426
78RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.48891764
79NOTCH1_21737748_ChIP-Seq_TLL_Human1.46311387
80ESR1_21235772_ChIP-Seq_MCF-7_Human1.46072674
81AR_21909140_ChIP-Seq_LNCAP_Human1.45380440
82VDR_21846776_ChIP-Seq_THP-1_Human1.45374811
83PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.45152620
84* PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.44673495
85ATF3_27146783_Chip-Seq_COLON_Human1.42937772
86RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.42810274
87KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.41056028
88ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.40299878
89ESR2_21235772_ChIP-Seq_MCF-7_Human1.39962957
90SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.39360036
91FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.38946042
92TET1_21451524_ChIP-Seq_MESCs_Mouse1.37019657
93SOX2_18555785_ChIP-Seq_MESCs_Mouse1.35706761
94ELF1_20517297_ChIP-Seq_JURKAT_Human1.33958914
95RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.33713297
96KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.31332756
97ELK1_22589737_ChIP-Seq_MCF10A_Human1.29571902
98PADI4_21655091_ChIP-ChIP_MCF-7_Human1.29375692
99* FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.28689170
100* KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.27946956
101RBPJ_22232070_ChIP-Seq_NCS_Mouse1.26756554
102STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.24590065
103CLOCK_20551151_ChIP-Seq_293T_Human1.24311766
104POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.22111588
105ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.21719917
106CIITA_25753668_ChIP-Seq_RAJI_Human1.21132051
107* TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.18147385
108SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.17826902
109P68_20966046_ChIP-Seq_HELA_Human1.17525792
110KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.17350212
111PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.16480695
112SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.16390897
113CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.16250464
114BCOR_27268052_Chip-Seq_Bcells_Human1.15636823
115GATA2_21666600_ChIP-Seq_HMVEC_Human1.15416626
116MYC_18940864_ChIP-ChIP_HL60_Human1.14133978
117P63_26484246_Chip-Seq_KERATINOCYTES_Human1.13773273
118* MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.13722930
119SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.13143211
120THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.13096682
121NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.12745624
122NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.12176303
123BCL6_27268052_Chip-Seq_Bcells_Human1.12065169
124RARB_24833708_ChIP-Seq_LIVER_Mouse1.09924742
125ZFX_18555785_ChIP-Seq_MESCs_Mouse1.09548408
126CTCF_27219007_Chip-Seq_ERYTHROID_Human1.08213173
127GATA1_22383799_ChIP-Seq_G1ME_Mouse1.07831228
128CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.07124085
129STAT4_19710469_ChIP-ChIP_TH1__Mouse1.06430802
130TBX5_21415370_ChIP-Seq_HL-1_Mouse1.06005448
131ERG_20887958_ChIP-Seq_HPC-7_Mouse1.05917107
132SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.04738822
133SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.04280541
134SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.04280541
135CTCF_18555785_ChIP-Seq_MESCs_Mouse1.03966750
136KDM5A_27292631_Chip-Seq_BREAST_Human1.03837802
137TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.03533244
138SRY_22984422_ChIP-ChIP_TESTIS_Rat1.03439519
139SOX2_20726797_ChIP-Seq_SW620_Human1.02463850
140NCOR1_26117541_ChIP-Seq_K562_Human1.02126128
141* CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.01844209
142STAT3_1855785_ChIP-Seq_MESCs_Mouse1.01040338
143SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.00535747
144CTCF_26484167_Chip-Seq_Bcells_Mouse1.00532407
145RUNX1_22412390_ChIP-Seq_EML_Mouse1.00524335
146MAF_26560356_Chip-Seq_TH1_Human1.00168499
147TP53_22127205_ChIP-Seq_IMR90_Human0.99958837
148VDR_24763502_ChIP-Seq_THP-1_Human0.99063951
149TCF3_18692474_ChIP-Seq_MEFs_Mouse0.98873827
150* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.98052521
151SA1_27219007_Chip-Seq_ERYTHROID_Human0.97986453
152NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.97743190
153TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.97528039
154HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.97514402
155SOX17_20123909_ChIP-Seq_XEN_Mouse0.94080364
156IRF1_19129219_ChIP-ChIP_H3396_Human0.92347841
157* BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.92027537
158CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.91733995
159CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.89411443
160E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.88803025
161NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.87426235
162NANOG_16153702_ChIP-ChIP_HESCs_Human0.86935410
163TFEB_21752829_ChIP-Seq_HELA_Human0.86522752
164POU5F1_16153702_ChIP-ChIP_HESCs_Human0.85313710
165SOX2_18692474_ChIP-Seq_MEFs_Mouse0.84653589
166SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.82745975
167SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.82333170
168SOX2_16153702_ChIP-ChIP_HESCs_Human0.76795953
169HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.76764461
170SPI1_23547873_ChIP-Seq_NB4_Human0.73029016
171TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.72549923
172KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.71852986
173OCT4_18692474_ChIP-Seq_MEFs_Mouse0.71390767
174GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.70938539

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching4.82099624
2MP0003111_abnormal_nucleus_morphology4.15014261
3MP0005058_abnormal_lysosome_morphology4.12784054
4MP0008058_abnormal_DNA_repair3.99266145
5MP0010094_abnormal_chromosome_stability3.92283017
6MP0008057_abnormal_DNA_replication3.91936163
7MP0008438_abnormal_cutaneous_collagen3.69242606
8MP0003077_abnormal_cell_cycle3.37902289
9MP0004957_abnormal_blastocyst_morpholog3.28807140
10MP0010234_abnormal_vibrissa_follicle3.10516516
11MP0009840_abnormal_foam_cell2.98538846
12MP0008007_abnormal_cellular_replicative2.96669344
13MP0003941_abnormal_skin_development2.96617992
14MP0006292_abnormal_olfactory_placode2.92611065
15MP0008932_abnormal_embryonic_tissue2.86272678
16MP0003786_premature_aging2.72094927
17MP0003191_abnormal_cellular_cholesterol2.61802683
18MP0003718_maternal_effect2.60631485
19MP0003172_abnormal_lysosome_physiology2.57514866
20MP0009379_abnormal_foot_pigmentation2.45390110
21MP0008877_abnormal_DNA_methylation2.34283757
22MP0003136_yellow_coat_color2.29560050
23MP0009780_abnormal_chondrocyte_physiolo2.26757917
24MP0001188_hyperpigmentation2.21887209
25MP0002877_abnormal_melanocyte_morpholog2.08644510
26MP0005451_abnormal_body_composition2.06900685
27MP0005083_abnormal_biliary_tract1.87310867
28MP0008875_abnormal_xenobiotic_pharmacok1.85705682
29MP0002139_abnormal_hepatobiliary_system1.81787472
30MP0001661_extended_life_span1.81708464
31MP0004133_heterotaxia1.78831425
32MP0002060_abnormal_skin_morphology1.75170668
33MP0005365_abnormal_bile_salt1.71475933
34MP0005165_increased_susceptibility_to1.69005993
35MP0005408_hypopigmentation1.67782742
36MP0003315_abnormal_perineum_morphology1.67577533
37MP0002160_abnormal_reproductive_system1.64376875
38MP0004272_abnormal_basement_membrane1.63920894
39MP0000566_synostosis1.63743766
40MP0006054_spinal_hemorrhage1.63593477
41MP0000013_abnormal_adipose_tissue1.59035096
42MP0003705_abnormal_hypodermis_morpholog1.58190141
43MP0002102_abnormal_ear_morphology1.48974497
44MP0003279_aneurysm1.46961565
45MP0003075_altered_response_to1.46859324
46MP0000003_abnormal_adipose_tissue1.42346376
47MP0000350_abnormal_cell_proliferation1.42173863
48MP0002938_white_spotting1.40635174
49MP0003566_abnormal_cell_adhesion1.40329467
50MP0005360_urolithiasis1.40266266
51MP0002210_abnormal_sex_determination1.39479373
52MP0005389_reproductive_system_phenotype1.35563075
53MP0002277_abnormal_respiratory_mucosa1.33913419
54MP0001958_emphysema1.33297142
55MP0009643_abnormal_urine_homeostasis1.32870499
56MP0005075_abnormal_melanosome_morpholog1.32736040
57MP0003186_abnormal_redox_activity1.30775000
58MP0000681_abnormal_thyroid_gland1.30447091
59MP0001986_abnormal_taste_sensitivity1.29884988
60MP0003123_paternal_imprinting1.29006490
61MP0002166_altered_tumor_susceptibility1.28109236
62MP0010030_abnormal_orbit_morphology1.23948386
63MP0006082_CNS_inflammation1.22575048
64MP0005023_abnormal_wound_healing1.22189655
65MP0000015_abnormal_ear_pigmentation1.21144575
66MP0003656_abnormal_erythrocyte_physiolo1.21001620
67MP0002132_abnormal_respiratory_system1.20626445
68MP0005171_absent_coat_pigmentation1.20619214
69MP0000604_amyloidosis1.20452149
70MP0001853_heart_inflammation1.19426365
71MP0001881_abnormal_mammary_gland1.17911355
72MP0001243_abnormal_dermal_layer1.17044017
73MP0002396_abnormal_hematopoietic_system1.16645015
74MP0001145_abnormal_male_reproductive1.15460105
75MP0005464_abnormal_platelet_physiology1.14593750
76MP0002148_abnormal_hypersensitivity_rea1.14197540
77MP0008995_early_reproductive_senescence1.12979941
78MP0000049_abnormal_middle_ear1.12561200
79MP0000313_abnormal_cell_death1.12065891
80MP0001533_abnormal_skeleton_physiology1.11259595
81MP0003121_genomic_imprinting1.11047818
82MP0002876_abnormal_thyroid_physiology1.10704550
83MP0003436_decreased_susceptibility_to1.10568470
84MP0000372_irregular_coat_pigmentation1.10285611
85MP0001730_embryonic_growth_arrest1.09257749
86MP0000490_abnormal_crypts_of1.07694826
87MP0001919_abnormal_reproductive_system1.07137585
88MP0001873_stomach_inflammation1.05508428
89MP0009384_cardiac_valve_regurgitation1.05434782
90MP0005409_darkened_coat_color1.05023217
91MP0001216_abnormal_epidermal_layer1.04486120
92MP0005174_abnormal_tail_pigmentation1.04246857
93MP0001849_ear_inflammation1.03430244
94MP0001756_abnormal_urination1.03260414
95MP0003938_abnormal_ear_development1.01270573
96MP0002254_reproductive_system_inflammat1.01139605
97MP0001119_abnormal_female_reproductive1.01107110
98MP0003453_abnormal_keratinocyte_physiol1.00322261
99MP0004782_abnormal_surfactant_physiolog1.00279471
100MP0003300_gastrointestinal_ulcer1.00270894
101MP0005377_hearing/vestibular/ear_phenot0.99804553
102MP0003878_abnormal_ear_physiology0.99804553
103MP0001286_abnormal_eye_development0.99693795
104MP0004381_abnormal_hair_follicle0.99075037
105MP0005379_endocrine/exocrine_gland_phen0.97848575
106MP0000653_abnormal_sex_gland0.97638728
107MP0010678_abnormal_skin_adnexa0.96768916
108MP0000371_diluted_coat_color0.96623654
109MP0002933_joint_inflammation0.96539531
110MP0008469_abnormal_protein_level0.96232472
111MP0004947_skin_inflammation0.96134959
112MP0005584_abnormal_enzyme/coenzyme_acti0.95112390
113MP0001835_abnormal_antigen_presentation0.94571253
114MP0000609_abnormal_liver_physiology0.94552183
115MP0001293_anophthalmia0.94540243
116MP0002095_abnormal_skin_pigmentation0.94305132
117MP0005332_abnormal_amino_acid0.93976075
118MP0000858_altered_metastatic_potential0.93645101
119MP0005220_abnormal_exocrine_pancreas0.93627327
120MP0003950_abnormal_plasma_membrane0.93535592
121MP0004019_abnormal_vitamin_homeostasis0.93488809
122MP0002085_abnormal_embryonic_tissue0.93472848
123MP0001542_abnormal_bone_strength0.92888298
124MP0003329_amyloid_beta_deposits0.92821212
125MP0003195_calcinosis0.92354745
126MP0010329_abnormal_lipoprotein_level0.92263048
127MP0005367_renal/urinary_system_phenotyp0.90046364
128MP0000516_abnormal_urinary_system0.90046364
129MP0002019_abnormal_tumor_incidence0.89929175
130MP0001672_abnormal_embryogenesis/_devel0.89733463
131MP0005380_embryogenesis_phenotype0.89733463
132MP0005275_abnormal_skin_tensile0.89448307
133MP0000685_abnormal_immune_system0.89134714
134MP0001929_abnormal_gametogenesis0.88337570
135MP0005395_other_phenotype0.88192363
136MP0002111_abnormal_tail_morphology0.87330464
137MP0002006_tumorigenesis0.86997170
138MP0001186_pigmentation_phenotype0.86537385
139MP0000538_abnormal_urinary_bladder0.86508685
140MP0005164_abnormal_response_to0.85948568
141MP0002909_abnormal_adrenal_gland0.85922379
142MP0003795_abnormal_bone_structure0.85508289
143MP0002080_prenatal_lethality0.85075497
144MP0009333_abnormal_splenocyte_physiolog0.84907795
145MP0005636_abnormal_mineral_homeostasis0.84655043
146MP0002693_abnormal_pancreas_physiology0.84203788
147MP0005501_abnormal_skin_physiology0.84119346
148MP0009697_abnormal_copulation0.83809285
149MP0003806_abnormal_nucleotide_metabolis0.83522368
150MP0001697_abnormal_embryo_size0.82851293
151MP0003937_abnormal_limbs/digits/tail_de0.82528481
152MP0002751_abnormal_autonomic_nervous0.82185943
153MP0002249_abnormal_larynx_morphology0.82159124
154MP0005319_abnormal_enzyme/_coenzyme0.81284419
155MP0000343_altered_response_to0.80774189
156MP0001845_abnormal_inflammatory_respons0.80631462
157MP0001944_abnormal_pancreas_morphology0.80195621
158MP0000358_abnormal_cell_content/0.80191608
159MP0010771_integument_phenotype0.80125606
160MP0003567_abnormal_fetal_cardiomyocyte0.79992847
161MP0000678_abnormal_parathyroid_gland0.79378462
162MP0003936_abnormal_reproductive_system0.79052131
163MP0001765_abnormal_ion_homeostasis0.79024752
164MP0009785_altered_susceptibility_to0.78471028
165MP0002136_abnormal_kidney_physiology0.78456151
166MP0010307_abnormal_tumor_latency0.78221877
167MP0004142_abnormal_muscle_tone0.77575024
168MP0004264_abnormal_extraembryonic_tissu0.77536990
169MP0010155_abnormal_intestine_physiology0.77531017
170MP0000762_abnormal_tongue_morphology0.72605899
171MP0005257_abnormal_intraocular_pressure0.69765265
172MP0002075_abnormal_coat/hair_pigmentati0.69208625
173MP0000613_abnormal_salivary_gland0.67288065
174MP0003984_embryonic_growth_retardation0.67218384
175MP0003755_abnormal_palate_morphology0.66702879
176MP0005503_abnormal_tendon_morphology0.66655500
177MP0002163_abnormal_gland_morphology0.66417901
178MP0003119_abnormal_digestive_system0.65708341
179MP0009053_abnormal_anal_canal0.64533599
180MP0002088_abnormal_embryonic_growth/wei0.63931922
181MP0008789_abnormal_olfactory_epithelium0.63603862
182MP0000432_abnormal_head_morphology0.63539316
183MP0004197_abnormal_fetal_growth/weight/0.62980250
184MP0003448_altered_tumor_morphology0.60898659
185MP0002638_abnormal_pupillary_reflex0.59703869
186MP0005384_cellular_phenotype0.59463277

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of glycolipid metabolism (HP:0010969)5.18201574
2Abnormality of liposaccharide metabolism (HP:0010968)5.18201574
3Abnormality of glycosphingolipid metabolism (HP:0004343)5.18201574
4Chromosomal breakage induced by crosslinking agents (HP:0003221)4.61512106
5Birth length less than 3rd percentile (HP:0003561)4.57311689
6Breast hypoplasia (HP:0003187)4.53045393
7Chromsome breakage (HP:0040012)4.43934389
8Dysostosis multiplex (HP:0000943)4.28008660
9Vertebral compression fractures (HP:0002953)4.27049646
10Mucopolysacchariduria (HP:0008155)4.14146310
11Urinary glycosaminoglycan excretion (HP:0003541)4.14146310
12Abnormality of polysaccharide metabolism (HP:0011012)4.06728543
13Abnormality of glycosaminoglycan metabolism (HP:0004371)4.06728543
14Abnormality of mucopolysaccharide metabolism (HP:0011020)4.06728543
15Duplicated collecting system (HP:0000081)4.04153698
16Premature rupture of membranes (HP:0001788)4.03513307
17Reticulocytopenia (HP:0001896)4.02096253
18Vacuolated lymphocytes (HP:0001922)3.88146464
19J-shaped sella turcica (HP:0002680)3.78526339
20Abnormality of the renal collecting system (HP:0004742)3.65495126
21Meckel diverticulum (HP:0002245)3.45285352
22Muscle abnormality related to mitochondrial dysfunction (HP:0003800)3.43801586
23Progressive external ophthalmoplegia (HP:0000590)3.38176820
24Abnormality of the ileum (HP:0001549)3.28580762
25Carpal bone hypoplasia (HP:0001498)3.21070764
26Absent radius (HP:0003974)3.17257999
27Cervical subluxation (HP:0003308)3.12377674
28Patellar aplasia (HP:0006443)3.11498408
29Supernumerary spleens (HP:0009799)3.09509606
30Abnormality of the preputium (HP:0100587)3.05945870
31Absent forearm bone (HP:0003953)3.05448526
32Aplasia involving forearm bones (HP:0009822)3.05448526
33Aplasia/Hypoplasia of the patella (HP:0006498)2.98241823
34Abnormality of chromosome stability (HP:0003220)2.93343614
35Protrusio acetabuli (HP:0003179)2.88216538
36Cerebral hypomyelination (HP:0006808)2.87400114
37Aplasia/Hypoplasia of the uvula (HP:0010293)2.86728687
38Rough bone trabeculation (HP:0100670)2.86458133
39Glucose intolerance (HP:0000833)2.85020308
40Hypokinesia (HP:0002375)2.84138706
41Abnormality of cells of the erythroid lineage (HP:0012130)2.79810958
42Abnormal number of erythroid precursors (HP:0012131)2.79184612
43Absent thumb (HP:0009777)2.78505520
44Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.72556538
45Progressive neurologic deterioration (HP:0002344)2.72029048
46Macrocytic anemia (HP:0001972)2.71648400
47Aplastic anemia (HP:0001915)2.67860855
48Type I transferrin isoform profile (HP:0003642)2.66491528
49Cardiomegaly (HP:0001640)2.64520812
50Aplasia/Hypoplasia involving the musculature (HP:0001460)2.63496428
51Triphalangeal thumb (HP:0001199)2.62874572
52Aplasia/Hypoplasia of the sacrum (HP:0008517)2.62414818
53Joint stiffness (HP:0001387)2.58905543
54Oral leukoplakia (HP:0002745)2.56887522
55Bone marrow hypocellularity (HP:0005528)2.54405178
56Abnormality of the distal phalanges of the toes (HP:0010182)2.49492812
57Abnormality of aromatic amino acid family metabolism (HP:0004338)2.49001137
58Vascular calcification (HP:0004934)2.48718847
59Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.48014454
60Testicular atrophy (HP:0000029)2.46750095
61Cardiovascular calcification (HP:0011915)2.44301339
62Premature graying of hair (HP:0002216)2.42921754
63Interstitial pulmonary disease (HP:0006530)2.42085892
64Loss of speech (HP:0002371)2.41579282
65Pallor (HP:0000980)2.39338810
66Horseshoe kidney (HP:0000085)2.39293513
67Osteolytic defects of the phalanges of the hand (HP:0009771)2.38599630
68Osteolytic defects of the hand bones (HP:0009699)2.38599630
69Small intestinal stenosis (HP:0012848)2.37216315
70Duodenal stenosis (HP:0100867)2.37216315
71Increased cerebral lipofuscin (HP:0011813)2.36460249
72Short nail (HP:0001799)2.35372998
73Microvesicular hepatic steatosis (HP:0001414)2.32145627
74Selective tooth agenesis (HP:0001592)2.32034538
753-Methylglutaconic aciduria (HP:0003535)2.31873815
76Abnormal lung lobation (HP:0002101)2.31056956
77Abnormality of the labia minora (HP:0012880)2.28513620
78Ectopic kidney (HP:0000086)2.27008316
79Nuclear cataract (HP:0100018)2.25151725
80Clubbing of toes (HP:0100760)2.23766070
81Abnormal glucose tolerance (HP:0001952)2.22014681
82Orthostatic hypotension (HP:0001278)2.21209801
83Entropion (HP:0000621)2.19378746
84Reduced subcutaneous adipose tissue (HP:0003758)2.17809796
85Abnormality of DNA repair (HP:0003254)2.17587868
86Trismus (HP:0000211)2.16102585
87Impulsivity (HP:0100710)2.15020895
88Abnormal trabecular bone morphology (HP:0100671)2.14549614
89Increased neuronal autofluorescent lipopigment (HP:0002074)2.13114031
90Cleft eyelid (HP:0000625)2.11044708
91Acute necrotizing encephalopathy (HP:0006965)2.10777919
92Increased serum lactate (HP:0002151)2.10159813
9311 pairs of ribs (HP:0000878)2.10078016
94Increased serum ferritin (HP:0003281)2.09705624
95Abnormal hair laboratory examination (HP:0003328)2.09553768
96Abnormality of the anterior horn cell (HP:0006802)2.09485496
97Degeneration of anterior horn cells (HP:0002398)2.09485496
98Petechiae (HP:0000967)2.08834471
99Aplasia/Hypoplasia of the earlobes (HP:0009906)2.07371501
100Mitochondrial inheritance (HP:0001427)2.06504189
101Prolonged neonatal jaundice (HP:0006579)2.05001155
102Mitral stenosis (HP:0001718)2.03374008
103Facial cleft (HP:0002006)2.03207530
104Granulocytopenia (HP:0001913)2.03035594
105Ketoacidosis (HP:0001993)2.02834352
106Type 2 muscle fiber atrophy (HP:0003554)2.02296180
107Aplasia/hypoplasia of the uterus (HP:0008684)2.01832746
108Pancreatic cysts (HP:0001737)2.01635477
109Xanthomatosis (HP:0000991)2.01572842
110Ureteral duplication (HP:0000073)2.01264793
111Hypoplasia of the odontoid process (HP:0003311)1.99061770
112Exercise intolerance (HP:0003546)1.98930119
113Distal lower limb muscle weakness (HP:0009053)1.98801861
114Pancytopenia (HP:0001876)1.97272398
115Tracheoesophageal fistula (HP:0002575)1.96634598
116Abnormality of the duodenum (HP:0002246)1.96420173
117Sparse eyelashes (HP:0000653)1.95691333
118Abnormality of abdominal situs (HP:0011620)1.93867766
119Abdominal situs inversus (HP:0003363)1.93867766
120Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.93612928
121Myelodysplasia (HP:0002863)1.92368348
122Pili torti (HP:0003777)1.91398997
123Neoplasm of the adrenal cortex (HP:0100641)1.91276278
124Secondary amenorrhea (HP:0000869)1.91207161
125Increased CSF protein (HP:0002922)1.90817964
126Hypoplasia of the radius (HP:0002984)1.90571276
127Abnormal number of incisors (HP:0011064)1.90356958
128Systemic lupus erythematosus (HP:0002725)1.90161449
129Short thumb (HP:0009778)1.89012251
130Increased hepatocellular lipid droplets (HP:0006565)1.88974096
131Large eyes (HP:0001090)1.88797463
132Spastic paraparesis (HP:0002313)1.88095911
133Muscle fiber atrophy (HP:0100295)1.86708720
134Hand muscle atrophy (HP:0009130)1.86001081
135External ophthalmoplegia (HP:0000544)1.85797624
136Insulin resistance (HP:0000855)1.85019736
137Upper limb amyotrophy (HP:0009129)1.84688288
138Distal upper limb amyotrophy (HP:0007149)1.84688288
139Nephroblastoma (Wilms tumor) (HP:0002667)1.84655310
140Sloping forehead (HP:0000340)1.83754134
141Tongue fasciculations (HP:0001308)1.83044680
142Septo-optic dysplasia (HP:0100842)1.82735675
143Hepatosplenomegaly (HP:0001433)1.82573074
144Growth hormone excess (HP:0000845)1.82527864
145Increased CSF lactate (HP:0002490)1.81975264
146Aplasia of the musculature (HP:0100854)1.81912462
147Hyperthyroidism (HP:0000836)1.81802822
148Mesangial abnormality (HP:0001966)1.81604192
149Abnormal glycosylation (HP:0012345)1.81544872
150Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.81544872
151Abnormal protein N-linked glycosylation (HP:0012347)1.81544872
152Abnormal protein glycosylation (HP:0012346)1.81544872
153Esophageal neoplasm (HP:0100751)1.81357077
154Neoplasm of head and neck (HP:0012288)1.81357077
155Stomach cancer (HP:0012126)1.80693117
156Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.80349680
157Decreased activity of mitochondrial respiratory chain (HP:0008972)1.80349680
158Medulloblastoma (HP:0002885)1.80174014
159Exertional dyspnea (HP:0002875)1.79759959
160Hypoplasia of the capital femoral epiphysis (HP:0003090)1.79692044
161Ovoid vertebral bodies (HP:0003300)1.79443067
162Adrenal hypoplasia (HP:0000835)1.77403369
163Agnosia (HP:0010524)1.77369429
164Premature ovarian failure (HP:0008209)1.77246837
165Neoplasm of the pancreas (HP:0002894)1.76993654
166Embryonal renal neoplasm (HP:0011794)1.76762921
167Glioma (HP:0009733)1.76738698
168Cutaneous melanoma (HP:0012056)1.76607524
169Pancreatic fibrosis (HP:0100732)1.75754409
170Abnormality of iron homeostasis (HP:0011031)1.74185804
171Late onset (HP:0003584)1.73295482
172Abnormality of dentin (HP:0010299)1.73268686
173Hyperammonemia (HP:0001987)1.72765806
174Elbow flexion contracture (HP:0002987)1.72698975
175Generalized amyotrophy (HP:0003700)1.69654550
176Cerebral aneurysm (HP:0004944)1.69165988
177Hepatic necrosis (HP:0002605)1.68797487
178Asymmetric septal hypertrophy (HP:0001670)1.68255373
179Atrophic scars (HP:0001075)1.66850246
180Hepatocellular necrosis (HP:0001404)1.66338576
181Albinism (HP:0001022)1.66230352
182Abdominal distention (HP:0003270)1.66007089
183Natal tooth (HP:0000695)1.65655330
184Abnormality of the odontoid process (HP:0003310)1.64749940
185Beaking of vertebral bodies (HP:0004568)1.64576932
186Stridor (HP:0010307)1.64435860
187Abnormal gallbladder physiology (HP:0012438)1.64379860
188Cholecystitis (HP:0001082)1.64379860
189Dicarboxylic aciduria (HP:0003215)1.60782215
190Abnormality of dicarboxylic acid metabolism (HP:0010995)1.60782215
191Deformed sella turcica (HP:0002681)1.60341593
192Hypertensive crisis (HP:0100735)1.59044569
193Achilles tendon contracture (HP:0001771)1.58825609
194Abnormality of the Achilles tendon (HP:0005109)1.58511681
195Fragile skin (HP:0001030)1.55398163
196Purpura (HP:0000979)1.54779676
197Blue sclerae (HP:0000592)1.54371885

Predicted kinase interactions (KEA)

RankGene SetZ-score
1IRAK34.60365108
2BUB14.49840800
3STK164.15948176
4PLK43.54287670
5ZAK3.52793518
6ERN13.34940517
7VRK23.32212576
8WEE13.26744381
9EIF2AK13.26477618
10SRPK12.89244198
11MST1R2.66294849
12IRAK42.53843207
13EIF2AK32.45948221
14TRIB32.39146638
15SMG12.31034661
16LMTK22.11571734
17VRK12.06359111
18IRAK21.96850959
19TTK1.94795478
20CDC71.89987119
21TSSK61.88854301
22EPHA21.87300856
23TLK11.87251185
24PBK1.71846426
25IRAK11.69005904
26SCYL21.67257901
27SIK11.65049822
28PLK11.64196595
29NME21.58935232
30MKNK21.56620700
31TBK11.56004903
32PLK31.55655256
33BCKDK1.54643962
34MAP3K31.53605403
35DYRK31.52967093
36MKNK11.50187814
37ACVR1B1.47589549
38EIF2AK21.46622187
39PHKG21.45284261
40PHKG11.45284261
41BRSK21.42201570
42TESK21.41982215
43MARK11.38842256
44AKT31.35433676
45ATR1.32143993
46BRD41.31722706
47ZAP701.31582345
48EEF2K1.30735785
49FER1.23100771
50FLT31.20930845
51ARAF1.17301989
52MYLK1.16695059
53LRRK21.15932586
54MET1.14184254
55PTK21.12623660
56CHEK21.11000251
57ICK1.10218683
58PKN21.09502532
59PIM21.08245372
60AURKA1.07499686
61MAPK111.06719999
62TRPM71.06486267
63DAPK11.06398892
64STK38L1.06187777
65CDK71.05193014
66MAP3K121.03674017
67AURKB1.03441214
68DYRK21.02448406
69NME11.01686112
70HIPK20.99379261
71MAP2K60.97557768
72RPS6KB20.92738549
73TAOK20.90516405
74ERBB40.90468447
75PRKD20.89353936
76TYK20.88344941
77MAP2K20.87215091
78ILK0.87067009
79PNCK0.86080919
80MAP3K110.85132660
81MUSK0.84829847
82MAP2K30.84672879
83EPHB10.80945020
84MAPKAPK50.79958776
85PRKCI0.79147383
86NEK20.77448128
87BRSK10.77120853
88KDR0.72544828
89BRAF0.72375489
90PTK60.72146447
91CHEK10.70463948
92LIMK10.68125111
93STK40.67937253
94MAP4K10.67360568
95PAK40.66307579
96CLK10.66048444
97CDK80.65122481
98NUAK10.64291510
99BLK0.63221829
100MAP3K20.62859103
101CSNK2A10.62606435
102MAP4K20.62590420
103ADRBK20.62562627
104FGFR40.62041546
105ATM0.59803866
106MAP3K10.58445569
107NEK60.58152614
108YES10.57774420
109DAPK30.56201518
110RPS6KA50.54506744
111SIK30.53834697
112CSF1R0.53665356
113TXK0.52541990
114CSNK2A20.52344506
115TGFBR20.52188131
116RPS6KA40.51591431
117CSNK1G30.50917685
118PAK10.48209124
119STK100.48174074
120PRKG20.47908842
121NEK10.47742207
122MAPKAPK20.47509895
123PASK0.47094656
124CASK0.46880447
125GRK60.46324044
126MAP3K140.46249811
127GSK3A0.46000726
128NEK90.45737597
129IKBKB0.45729988
130JAK30.45211092
131CDK20.45006715
132PDGFRA0.43837948
133ABL20.43729113
134MST40.43615885
135CCNB10.43553590
136NTRK10.42491047
137MAP3K80.41947890
138JAK10.41671492
139PDK20.41475754
140PIM10.40968005
141KIT0.39999666
142FRK0.39705361
143CDK10.39376787
144EPHB20.38966024
145TTN0.38237023
146GRK10.36796668
147TESK10.36091031
148PDPK10.35918684
149TEC0.33726748
150BMPR1B0.33427963
151PAK20.33319394
152TAOK30.31679571
153PRPF4B0.31580729
154CHUK0.31430289
155CDC42BPA0.31134319
156CSNK1A1L0.27975136
157CAMK2D0.27675111
158TAOK10.27499862
159CAMK2B0.26417725
160PLK20.25218232
161MAPKAPK30.24543351
162CDK30.23890997
163TGFBR10.23067969
164STK240.23038268
165BMPR20.22481856
166TNIK0.22174522
167MELK0.21841576
168GRK70.20667961
169BCR0.17978723
170PRKDC0.17848447
171NLK0.17690934
172CDK40.17562573
173CAMK2G0.17461303
174LYN0.16927960

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030304.35933637
2Glycosaminoglycan degradation_Homo sapiens_hsa005314.27113587
3RNA polymerase_Homo sapiens_hsa030204.11192293
4Ribosome_Homo sapiens_hsa030103.98392095
5Proteasome_Homo sapiens_hsa030503.94041324
6Mismatch repair_Homo sapiens_hsa034303.80496242
7Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.48868669
8Homologous recombination_Homo sapiens_hsa034403.15692594
9Spliceosome_Homo sapiens_hsa030403.02471081
10Fanconi anemia pathway_Homo sapiens_hsa034602.90045111
11Nucleotide excision repair_Homo sapiens_hsa034202.86058717
12Lysosome_Homo sapiens_hsa041422.84260509
13Pyrimidine metabolism_Homo sapiens_hsa002402.81258509
14Sulfur metabolism_Homo sapiens_hsa009202.69112290
15Base excision repair_Homo sapiens_hsa034102.54639782
16RNA transport_Homo sapiens_hsa030132.40436123
17Basal transcription factors_Homo sapiens_hsa030222.34667815
18One carbon pool by folate_Homo sapiens_hsa006702.34199032
19Non-homologous end-joining_Homo sapiens_hsa034502.30336336
20Fatty acid elongation_Homo sapiens_hsa000622.29787070
21Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.10498469
22Cell cycle_Homo sapiens_hsa041102.06218996
23Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.02822836
24Protein processing in endoplasmic reticulum_Homo sapiens_hsa041412.01681935
25Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.81801188
26Protein export_Homo sapiens_hsa030601.74031018
27RNA degradation_Homo sapiens_hsa030181.73998755
28Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.70863608
29Vibrio cholerae infection_Homo sapiens_hsa051101.66311164
30Purine metabolism_Homo sapiens_hsa002301.64309510
31p53 signaling pathway_Homo sapiens_hsa041151.62955587
32Oxidative phosphorylation_Homo sapiens_hsa001901.53932930
33Maturity onset diabetes of the young_Homo sapiens_hsa049501.42245540
34Huntingtons disease_Homo sapiens_hsa050161.41142486
35Parkinsons disease_Homo sapiens_hsa050121.35449557
36Tyrosine metabolism_Homo sapiens_hsa003501.25779973
37Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.23591607
38Carbon metabolism_Homo sapiens_hsa012001.21968776
39mRNA surveillance pathway_Homo sapiens_hsa030151.17947187
40Epstein-Barr virus infection_Homo sapiens_hsa051691.17666402
41Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.16730345
42Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.05631301
43Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.04538587
44Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.02902053
45Peroxisome_Homo sapiens_hsa041461.00531707
46Fatty acid metabolism_Homo sapiens_hsa012120.99523744
47Tryptophan metabolism_Homo sapiens_hsa003800.91277771
48Glutathione metabolism_Homo sapiens_hsa004800.89138143
49Arachidonic acid metabolism_Homo sapiens_hsa005900.88099876
50Complement and coagulation cascades_Homo sapiens_hsa046100.87644421
51Chemical carcinogenesis_Homo sapiens_hsa052040.86325094
52Systemic lupus erythematosus_Homo sapiens_hsa053220.85650355
53Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.84154775
54Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.83391200
55Bladder cancer_Homo sapiens_hsa052190.83198003
56Primary bile acid biosynthesis_Homo sapiens_hsa001200.79113216
57Phenylalanine metabolism_Homo sapiens_hsa003600.78959017
58Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.78832495
59Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.78028677
60Shigellosis_Homo sapiens_hsa051310.77862505
61Pentose and glucuronate interconversions_Homo sapiens_hsa000400.76803962
62Rheumatoid arthritis_Homo sapiens_hsa053230.74176949
63Folate biosynthesis_Homo sapiens_hsa007900.72973155
64Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.71852350
65Alzheimers disease_Homo sapiens_hsa050100.71406167
66Caffeine metabolism_Homo sapiens_hsa002320.70863548
672-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.69055141
68Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.68480086
69Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.68378970
70Herpes simplex infection_Homo sapiens_hsa051680.65621992
71Other glycan degradation_Homo sapiens_hsa005110.65605101
72Cyanoamino acid metabolism_Homo sapiens_hsa004600.65571930
73Mineral absorption_Homo sapiens_hsa049780.65212967
74Fatty acid degradation_Homo sapiens_hsa000710.64800128
75Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.63256691
76Vitamin B6 metabolism_Homo sapiens_hsa007500.61338127
77Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.60534833
78Pertussis_Homo sapiens_hsa051330.60339849
79Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.60244226
80Pyruvate metabolism_Homo sapiens_hsa006200.57763232
81ECM-receptor interaction_Homo sapiens_hsa045120.57698474
82Collecting duct acid secretion_Homo sapiens_hsa049660.57485870
83Type I diabetes mellitus_Homo sapiens_hsa049400.57148141
84Steroid hormone biosynthesis_Homo sapiens_hsa001400.56388978
85Starch and sucrose metabolism_Homo sapiens_hsa005000.56175709
86Sphingolipid metabolism_Homo sapiens_hsa006000.54564901
87Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.54316617
88Hepatitis C_Homo sapiens_hsa051600.54287008
89Butanoate metabolism_Homo sapiens_hsa006500.51940795
90Metabolic pathways_Homo sapiens_hsa011000.49229025
91Viral carcinogenesis_Homo sapiens_hsa052030.48703814
92Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.47189068
93Sulfur relay system_Homo sapiens_hsa041220.46960922
94Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.44912661
95Graft-versus-host disease_Homo sapiens_hsa053320.44575379
96Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.44035126
97beta-Alanine metabolism_Homo sapiens_hsa004100.43733114
98Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.43236751
99Autoimmune thyroid disease_Homo sapiens_hsa053200.43105372
100Phagosome_Homo sapiens_hsa041450.42743795
101Drug metabolism - other enzymes_Homo sapiens_hsa009830.42395362
102ABC transporters_Homo sapiens_hsa020100.42243691
103Oocyte meiosis_Homo sapiens_hsa041140.40977651
104PPAR signaling pathway_Homo sapiens_hsa033200.40468929
105SNARE interactions in vesicular transport_Homo sapiens_hsa041300.40277179
106NF-kappa B signaling pathway_Homo sapiens_hsa040640.40169115
107Central carbon metabolism in cancer_Homo sapiens_hsa052300.39424831
108Cysteine and methionine metabolism_Homo sapiens_hsa002700.39423762
109Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.38970403
110Insulin resistance_Homo sapiens_hsa049310.38349287
111HTLV-I infection_Homo sapiens_hsa051660.38165946
112Regulation of autophagy_Homo sapiens_hsa041400.36711963
113Pentose phosphate pathway_Homo sapiens_hsa000300.35709919
114Allograft rejection_Homo sapiens_hsa053300.34031225
115Prion diseases_Homo sapiens_hsa050200.34031055
116Arginine biosynthesis_Homo sapiens_hsa002200.33984583
117Linoleic acid metabolism_Homo sapiens_hsa005910.33896442
118Salmonella infection_Homo sapiens_hsa051320.33560437
119Basal cell carcinoma_Homo sapiens_hsa052170.31581153
120Thyroid cancer_Homo sapiens_hsa052160.30626283
121Antigen processing and presentation_Homo sapiens_hsa046120.30154690
122Focal adhesion_Homo sapiens_hsa045100.29522457
123Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.29299955
124Small cell lung cancer_Homo sapiens_hsa052220.28828391
125Acute myeloid leukemia_Homo sapiens_hsa052210.28254156
126Primary immunodeficiency_Homo sapiens_hsa053400.27452382
127Measles_Homo sapiens_hsa051620.27026640
128Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.24809789
129Ether lipid metabolism_Homo sapiens_hsa005650.23973752
130Legionellosis_Homo sapiens_hsa051340.23893455
131Hematopoietic cell lineage_Homo sapiens_hsa046400.23538421
132Phototransduction_Homo sapiens_hsa047440.22797906
133Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.22147815
134N-Glycan biosynthesis_Homo sapiens_hsa005100.22109101
135Arginine and proline metabolism_Homo sapiens_hsa003300.21760036
136Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.21213536
137RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.21008996
138Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.20965571
139Alcoholism_Homo sapiens_hsa050340.19852493
140Galactose metabolism_Homo sapiens_hsa000520.19322153
141TGF-beta signaling pathway_Homo sapiens_hsa043500.19239776
142Asthma_Homo sapiens_hsa053100.18757453
143Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.18596020
144Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.17287670
145NOD-like receptor signaling pathway_Homo sapiens_hsa046210.16840675
146Apoptosis_Homo sapiens_hsa042100.16483603
147Renin-angiotensin system_Homo sapiens_hsa046140.16215429
148Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.15639089
149Transcriptional misregulation in cancer_Homo sapiens_hsa052020.14679632
150Intestinal immune network for IgA production_Homo sapiens_hsa046720.14348973
151Steroid biosynthesis_Homo sapiens_hsa001000.14120154
152alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.13114859
153Hippo signaling pathway_Homo sapiens_hsa043900.12375883
154Fructose and mannose metabolism_Homo sapiens_hsa000510.11846461
155Biosynthesis of amino acids_Homo sapiens_hsa012300.11344800
156Vitamin digestion and absorption_Homo sapiens_hsa049770.11061023
157MicroRNAs in cancer_Homo sapiens_hsa052060.10422729
158Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.09906243
159Hedgehog signaling pathway_Homo sapiens_hsa043400.09292749

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