SEC61A1

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





Description: The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1COPI coating of Golgi vesicle (GO:0048205)6.77894575
2Golgi transport vesicle coating (GO:0048200)6.77894575
3signal peptide processing (GO:0006465)6.23847013
4maintenance of protein localization in endoplasmic reticulum (GO:0035437)5.80830158
5protein retention in ER lumen (GO:0006621)5.03294255
6skin morphogenesis (GO:0043589)4.64253118
7hemidesmosome assembly (GO:0031581)4.47860892
8GDP-mannose metabolic process (GO:0019673)4.43128470
9protein localization to endosome (GO:0036010)4.34964417
10cell adhesion mediated by integrin (GO:0033627)4.23039905
11basement membrane organization (GO:0071711)4.00689689
12COPII vesicle coating (GO:0048208)3.98216264
13cell-substrate junction assembly (GO:0007044)3.94386629
14sequestering of metal ion (GO:0051238)3.92559783
15regulation of apoptotic process involved in morphogenesis (GO:1902337)3.84704685
16endodermal cell differentiation (GO:0035987)3.83224646
17protein maturation by protein folding (GO:0022417)3.64926937
18pattern specification involved in kidney development (GO:0061004)3.60921140
19exocrine pancreas development (GO:0031017)3.52300831
20barbed-end actin filament capping (GO:0051016)3.50510124
21protein N-linked glycosylation via asparagine (GO:0018279)3.48479699
22endocrine pancreas development (GO:0031018)3.48342870
23regulation of type B pancreatic cell apoptotic process (GO:2000674)3.46074706
24adherens junction assembly (GO:0034333)3.45522543
25* SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.44053368
26peptidyl-asparagine modification (GO:0018196)3.42632449
27vesicle coating (GO:0006901)3.42584947
28negative regulation of mesenchymal cell apoptotic process (GO:2001054)3.40269296
29nephron tubule formation (GO:0072079)3.40031831
30focal adhesion assembly (GO:0048041)3.38012647
31cell-substrate adherens junction assembly (GO:0007045)3.38012647
32mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)3.35825807
33dolichol-linked oligosaccharide biosynthetic process (GO:0006488)3.34847391
34glandular epithelial cell differentiation (GO:0002067)3.33990017
35* protein targeting to ER (GO:0045047)3.32041869
36* cotranslational protein targeting to membrane (GO:0006613)3.30762221
37metanephric nephron tubule development (GO:0072234)3.29446469
38metanephric tubule development (GO:0072170)3.29446469
39activation of signaling protein activity involved in unfolded protein response (GO:0006987)3.28877466
40negative regulation of metanephros development (GO:0072217)3.28338041
41planar cell polarity pathway involved in neural tube closure (GO:0090179)3.27996470
42positive regulation of hormone metabolic process (GO:0032352)3.27476810
43positive regulation of nuclease activity (GO:0032075)3.22050076
44regulation of early endosome to late endosome transport (GO:2000641)3.21884319
45stress fiber assembly (GO:0043149)3.21852807
46protein N-linked glycosylation (GO:0006487)3.21205594
47desmosome organization (GO:0002934)3.18998646
48positive regulation of cellular amine metabolic process (GO:0033240)3.17426728
49positive regulation of protein kinase C signaling (GO:0090037)3.15830762
50regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.15473727
51GMP metabolic process (GO:0046037)3.13360630
52* establishment of protein localization to endoplasmic reticulum (GO:0072599)3.12875908
53UDP-N-acetylglucosamine metabolic process (GO:0006047)3.11190438
54* protein localization to endoplasmic reticulum (GO:0070972)3.11168372
55apoptotic cell clearance (GO:0043277)3.10778744
56negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)3.09482075
57mesonephros development (GO:0001823)3.09199035
58positive regulation of blood vessel endothelial cell migration (GO:0043536)3.07932048
59pinocytosis (GO:0006907)3.07676698
60peptidyl-proline hydroxylation (GO:0019511)3.07307793
61regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.05345093
62collagen fibril organization (GO:0030199)3.04759507
63dichotomous subdivision of an epithelial terminal unit (GO:0060600)3.03711615
64endoplasmic reticulum unfolded protein response (GO:0030968)3.03311991
65epithelial cell-cell adhesion (GO:0090136)3.02774673
66protein heterotrimerization (GO:0070208)3.01972028
67metanephric epithelium development (GO:0072207)3.01343860
68cellular response to unfolded protein (GO:0034620)2.99852033
69regulation of nuclease activity (GO:0032069)2.98077982
70regulation of glucose import in response to insulin stimulus (GO:2001273)2.97834679
71retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.96349311
72membrane protein ectodomain proteolysis (GO:0006509)2.96016551
73urogenital system development (GO:0001655)2.95856183
74ribosomal small subunit assembly (GO:0000028)2.92089367
75regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.91827886
76ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)2.91420752
77protein hydroxylation (GO:0018126)2.90711427
78metanephric nephron epithelium development (GO:0072243)2.89853363
79negative regulation of fatty acid transport (GO:2000192)2.89201170
80hyaluronan catabolic process (GO:0030214)2.89087538
81hypotonic response (GO:0006971)2.86890363
82collagen metabolic process (GO:0032963)2.86721044
83nucleotide-sugar metabolic process (GO:0009225)2.86567427
84cellular response to topologically incorrect protein (GO:0035967)2.86157158
85regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:00033392.85195205
86antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.83118245
87antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.83118245
88regulation of extracellular matrix disassembly (GO:0010715)2.82236319
89cytoskeletal anchoring at plasma membrane (GO:0007016)2.80256122
90vascular endothelial growth factor signaling pathway (GO:0038084)2.78437933
91semaphorin-plexin signaling pathway (GO:0071526)2.78155508
92ER-nucleus signaling pathway (GO:0006984)2.77907323
93mannosylation (GO:0097502)2.75076518
94extracellular matrix disassembly (GO:0022617)2.74543242
95regulation of mesenchymal cell apoptotic process (GO:2001053)2.73666873
96vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.72497422
97regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)2.72249836
98adhesion of symbiont to host (GO:0044406)2.72204877
99multicellular organismal macromolecule metabolic process (GO:0044259)2.71619892
100negative regulation of cell size (GO:0045792)2.71377862
101collagen catabolic process (GO:0030574)2.70121060
102type B pancreatic cell development (GO:0003323)2.67483908
103chondrocyte proliferation (GO:0035988)2.66517981
104gland morphogenesis (GO:0022612)2.64828813
105branching involved in mammary gland duct morphogenesis (GO:0060444)2.62786369
106positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)2.61089004
107wound healing, spreading of epidermal cells (GO:0035313)2.60789129
108regulation of mammary gland epithelial cell proliferation (GO:0033599)2.60420718
109glandular epithelial cell development (GO:0002068)2.60248230
110mannose metabolic process (GO:0006013)2.60184682
111nephron epithelium development (GO:0072009)2.59476198
112embryonic process involved in female pregnancy (GO:0060136)2.59275495
113maternal placenta development (GO:0001893)2.58845602
114positive regulation of extracellular matrix organization (GO:1903055)2.58457742
115DNA deamination (GO:0045006)2.58457171
116multicellular organismal metabolic process (GO:0044236)2.55976084
117activation of Rac GTPase activity (GO:0032863)2.55717991
118response to laminar fluid shear stress (GO:0034616)2.55038806
119fucose metabolic process (GO:0006004)2.53869548
120negative regulation of erythrocyte differentiation (GO:0045647)2.52545592
121embryo implantation (GO:0007566)2.52475505
122wound healing, spreading of cells (GO:0044319)2.52335324
123adhesion of symbiont to host cell (GO:0044650)2.51921398
124virion attachment to host cell (GO:0019062)2.51921398
125multicellular organismal catabolic process (GO:0044243)2.51250380
126nephron tubule development (GO:0072080)2.50939182
127UV protection (GO:0009650)2.50258108
128interkinetic nuclear migration (GO:0022027)2.50098330
129endothelial cell morphogenesis (GO:0001886)2.50041544
130peptide catabolic process (GO:0043171)2.49275527
131substrate-dependent cell migration (GO:0006929)2.48288665
132ER overload response (GO:0006983)2.47785910
133response to endoplasmic reticulum stress (GO:0034976)2.47774165
134negative regulation of keratinocyte proliferation (GO:0010839)2.45564993
135lymphoid progenitor cell differentiation (GO:0002320)2.45416172
136renal tubule development (GO:0061326)2.44806182
137negative regulation of kidney development (GO:0090185)2.44515722
138positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.44051599
139folic acid-containing compound biosynthetic process (GO:0009396)2.43582592
140peptidyl-histidine modification (GO:0018202)2.43320235
141regulation of glucokinase activity (GO:0033131)2.43272659
142regulation of hexokinase activity (GO:1903299)2.43272659
143proline biosynthetic process (GO:0006561)2.42362196
144mesodermal cell differentiation (GO:0048333)2.42114149
145pentose-phosphate shunt (GO:0006098)2.41847063
146heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.41777013
147negative regulation of chondrocyte differentiation (GO:0032331)2.41667018
148pteridine-containing compound biosynthetic process (GO:0042559)2.40506123
149positive regulation of osteoblast proliferation (GO:0033690)2.39534290
150regulation of cholesterol homeostasis (GO:2000188)2.38161079
151mesenchymal to epithelial transition (GO:0060231)2.37964493
152surfactant homeostasis (GO:0043129)2.36647351
153positive regulation of receptor recycling (GO:0001921)2.36284714
154negative regulation of protein localization to plasma membrane (GO:1903077)2.35642376
155insulin-like growth factor receptor signaling pathway (GO:0048009)2.35327729
156positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.34988288
157negative regulation of anoikis (GO:2000811)2.34969190
158genitalia morphogenesis (GO:0035112)2.34826459
1594-hydroxyproline metabolic process (GO:0019471)2.33839147
160negative regulation of transcription by competitive promoter binding (GO:0010944)2.32966280
161blood vessel endothelial cell migration (GO:0043534)2.32476339
162cellular copper ion homeostasis (GO:0006878)2.32348193
163positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)2.32063916
164facial nerve structural organization (GO:0021612)2.31774555
165auditory receptor cell differentiation (GO:0042491)2.30195391
166positive regulation of endothelial cell apoptotic process (GO:2000353)2.29695868
167astrocyte differentiation (GO:0048708)2.28994672
168bone trabecula formation (GO:0060346)2.28678505
169apoptotic process involved in morphogenesis (GO:0060561)2.28444549
170cellular response to vitamin (GO:0071295)2.28004128
171L-fucose catabolic process (GO:0042355)2.27850096
172fucose catabolic process (GO:0019317)2.27850096
173L-fucose metabolic process (GO:0042354)2.27850096
174mammary gland epithelial cell proliferation (GO:0033598)2.27278284
175peptide hormone processing (GO:0016486)2.27070783
176antigen processing and presentation of endogenous antigen (GO:0019883)2.26229978
177endosome to melanosome transport (GO:0035646)2.26027207
178endosome to pigment granule transport (GO:0043485)2.26027207
179response to unfolded protein (GO:0006986)2.24727507
180nucleotide-sugar biosynthetic process (GO:0009226)2.23594412
181response to folic acid (GO:0051593)2.20855488
182negative regulation of execution phase of apoptosis (GO:1900118)2.19621823

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human4.34358068
2NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.59641578
3ELF1_17652178_ChIP-ChIP_JURKAT_Human3.55158185
4NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.31756053
5RARG_19884340_ChIP-ChIP_MEFs_Mouse3.21910204
6GATA1_22025678_ChIP-Seq_K562_Human3.13753573
7IRF8_22096565_ChIP-ChIP_GC-B_Human3.09591778
8FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.86745752
9KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.67370322
10CLOCK_20551151_ChIP-Seq_293T_Human2.66422374
11ELK3_25401928_ChIP-Seq_HUVEC_Human2.62518555
12SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.62360837
13TP63_17297297_ChIP-ChIP_HaCaT_Human2.58410961
14ZNF263_19887448_ChIP-Seq_K562_Human2.49413333
15MYC_18555785_ChIP-Seq_MESCs_Mouse2.38681649
16GABP_17652178_ChIP-ChIP_JURKAT_Human2.36722347
17TAL1_20887958_ChIP-Seq_HPC-7_Mouse2.27977735
18* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.25951346
19TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.16742861
20LXR_22292898_ChIP-Seq_THP-1_Human2.16527957
21PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.13821272
22RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.13306012
23ERG_20887958_ChIP-Seq_HPC-7_Mouse2.12477151
24RACK7_27058665_Chip-Seq_MCF-7_Human2.10097173
25* JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.03518140
26THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.00327221
27RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.99556920
28FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.98903627
29KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.98817389
30IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.98223449
31TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.92803258
32PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.91496153
33NOTCH1_21737748_ChIP-Seq_TLL_Human1.89737909
34* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.89687906
35MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.85768728
36CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.84713619
37SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.82245053
38SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.81471253
39P300_27058665_Chip-Seq_ZR-75-30cells_Human1.80609890
40HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.80220989
41KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.80191996
42ESR2_21235772_ChIP-Seq_MCF-7_Human1.77387109
43EST1_17652178_ChIP-ChIP_JURKAT_Human1.75275510
44* MYC_18358816_ChIP-ChIP_MESCs_Mouse1.73874060
45* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.72288580
46ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.72037384
47SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.71905271
48KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.71018441
49EGR1_23403033_ChIP-Seq_LIVER_Mouse1.69179007
50CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.66529231
51HIF1A_21447827_ChIP-Seq_MCF-7_Human1.66471867
52* MYC_19030024_ChIP-ChIP_MESCs_Mouse1.65372686
53SCL_19346495_ChIP-Seq_HPC-7_Human1.62911087
54WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.61091397
55DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.60351017
56DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.60098882
57HOXB4_20404135_ChIP-ChIP_EML_Mouse1.60009254
58ATF3_27146783_Chip-Seq_COLON_Human1.55484422
59TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.54881033
60E2F1_18555785_ChIP-Seq_MESCs_Mouse1.53975099
61SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.52393536
62* ETS1_20019798_ChIP-Seq_JURKAT_Human1.52369515
63UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.52112212
64TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.51614845
65TCF7_22412390_ChIP-Seq_EML_Mouse1.51570216
66STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.51164838
67MYB_21317192_ChIP-Seq_ERMYB_Mouse1.50976831
68EGR1_19374776_ChIP-ChIP_THP-1_Human1.50736888
69* NELFA_20434984_ChIP-Seq_ESCs_Mouse1.50648470
70TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.49487668
71LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.45388466
72FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.45338495
73UBF1/2_26484160_Chip-Seq_HMECs_Human1.44449643
74VDR_23849224_ChIP-Seq_CD4+_Human1.44327535
75MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.43483038
76GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.43448799
77ELK1_19687146_ChIP-ChIP_HELA_Human1.43353538
78NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.42781271
79SPI1_23547873_ChIP-Seq_NB4_Human1.41370667
80KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.41345338
81* TP53_22127205_ChIP-Seq_IMR90_Human1.40934445
82SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.40637142
83SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.40637142
84DCP1A_22483619_ChIP-Seq_HELA_Human1.39814530
85ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.39477640
86CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.38409662
87STAT4_19710469_ChIP-ChIP_TH1__Mouse1.37916230
88ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.36662450
89RXR_22158963_ChIP-Seq_LIVER_Mouse1.36590060
90KDM2B_26808549_Chip-Seq_K562_Human1.35928726
91KDM2B_26808549_Chip-Seq_DND41_Human1.35555970
92MYC_22102868_ChIP-Seq_BL_Human1.35520216
93ZFP281_18757296_ChIP-ChIP_E14_Mouse1.35019492
94AR_21909140_ChIP-Seq_LNCAP_Human1.31740690
95CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.31383263
96* KLF4_18555785_ChIP-Seq_MESCs_Mouse1.30838216
97VDR_21846776_ChIP-Seq_THP-1_Human1.30663150
98FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.30660168
99PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.30259396
100CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.29337755
101VDR_24763502_ChIP-Seq_THP-1_Human1.29206864
102GATA1_22383799_ChIP-Seq_G1ME_Mouse1.28256520
103STAT6_21828071_ChIP-Seq_BEAS2B_Human1.27968508
104XRN2_22483619_ChIP-Seq_HELA_Human1.27698627
105ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.27637168
106ESR1_21235772_ChIP-Seq_MCF-7_Human1.26852664
107FOXP3_21729870_ChIP-Seq_TREG_Human1.26815742
108MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.26659787
109POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.26629317
110TFEB_21752829_ChIP-Seq_HELA_Human1.26365111
111MYB_26560356_Chip-Seq_TH2_Human1.25869328
112EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.25772835
113ZFX_18555785_ChIP-Seq_MESCs_Mouse1.25089021
114NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.24645242
115PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.23530750
116LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.23337387
117PPARA_22158963_ChIP-Seq_LIVER_Mouse1.22647069
118* SRF_21415370_ChIP-Seq_HL-1_Mouse1.22564788
119HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.20216614
120CREB1_15753290_ChIP-ChIP_HEK293T_Human1.19797512
121TTF2_22483619_ChIP-Seq_HELA_Human1.19492992
122* NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.18399909
123ELK1_22589737_ChIP-Seq_MCF10A_Human1.18196439
124* CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.17777641
125CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.17691792
126CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.17490331
127GABP_19822575_ChIP-Seq_HepG2_Human1.16287775
128TRIM28_21343339_ChIP-Seq_HEK293_Human1.16282657
129CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.16203014
130SOX9_24532713_ChIP-Seq_HFSC_Mouse1.14537085
131SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.12733766
132CTCF_27219007_Chip-Seq_ERYTHROID_Human1.10010814
133* TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.09850566
134STAT3_1855785_ChIP-Seq_MESCs_Mouse1.09747707
135BRD4_27068464_Chip-Seq_AML-cells_Mouse1.08917111
136TET1_21451524_ChIP-Seq_MESCs_Mouse1.08672247
137SOX2_27498859_Chip-Seq_STOMACH_Mouse1.08015999
138HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.07397474
139TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.06249451
140FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.06110210
141TP63_19390658_ChIP-ChIP_HaCaT_Human1.05962683
142MYC_19079543_ChIP-ChIP_MESCs_Mouse1.05529551
143EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.05360284
144KDM2B_26808549_Chip-Seq_JURKAT_Human1.05348395
145GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.05305415
146KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.04968672
147WT1_19549856_ChIP-ChIP_CCG9911_Human1.04931168
148MYB_26560356_Chip-Seq_TH1_Human1.04625400
149ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.03498624
150MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.03492637
151TBX20_22080862_ChIP-Seq_HEART_Mouse1.02771610
152TBX20_22328084_ChIP-Seq_HEART_Mouse1.02771610
153P63_26484246_Chip-Seq_KERATINOCYTES_Human1.02269874
154IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.01433754
155GATA2_22383799_ChIP-Seq_G1ME_Mouse1.01240330
156TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.00819292
157EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.00253688
158ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.98864131
159RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.98740149
160SMC1_22415368_ChIP-Seq_MEFs_Mouse0.98536224
161NCOR1_26117541_ChIP-Seq_K562_Human0.98507489
162NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.98168877
163E2F1_21310950_ChIP-Seq_MCF-7_Human0.96973303
164CIITA_25753668_ChIP-Seq_RAJI_Human0.96949500
165* MYCN_18555785_ChIP-Seq_MESCs_Mouse0.96279121
166CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.96145716
167TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.96113273
168MAF_26560356_Chip-Seq_TH1_Human0.95926334
169ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.95820841
170RUNX1_27514584_Chip-Seq_MCF-7_Human0.95222462
171* SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.95205705
172SRY_22984422_ChIP-ChIP_TESTIS_Rat0.94630700
173DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.94591413
174SA1_27219007_Chip-Seq_ERYTHROID_Human0.92484222

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003705_abnormal_hypodermis_morpholog4.84366567
2MP0003136_yellow_coat_color3.35008781
3MP0002877_abnormal_melanocyte_morpholog2.85517661
4MP0005409_darkened_coat_color2.58127999
5MP0004381_abnormal_hair_follicle2.47859884
6MP0005174_abnormal_tail_pigmentation2.43187180
7MP0001958_emphysema2.32020601
8MP0003279_aneurysm2.31606425
9MP0005220_abnormal_exocrine_pancreas2.26495865
10MP0009379_abnormal_foot_pigmentation2.22114995
11MP0005623_abnormal_meninges_morphology2.19599994
12MP0003091_abnormal_cell_migration2.15880424
13MP0005451_abnormal_body_composition2.12267166
14MP0009840_abnormal_foam_cell2.10243502
15MP0010352_gastrointestinal_tract_polyps2.09280982
16MP0010234_abnormal_vibrissa_follicle2.08653248
17MP0008438_abnormal_cutaneous_collagen2.08377279
18MP0004858_abnormal_nervous_system2.07389701
19MP0001849_ear_inflammation2.06246029
20MP0001188_hyperpigmentation2.03002384
21MP0006054_spinal_hemorrhage1.90524077
22MP0000678_abnormal_parathyroid_gland1.85466747
23MP0010368_abnormal_lymphatic_system1.78367492
24* MP0001944_abnormal_pancreas_morphology1.78144426
25MP0000015_abnormal_ear_pigmentation1.76227152
26MP0005076_abnormal_cell_differentiation1.75428553
27MP0000613_abnormal_salivary_gland1.75220459
28MP0003693_abnormal_embryo_hatching1.74244520
29* MP0002693_abnormal_pancreas_physiology1.74126455
30MP0003191_abnormal_cellular_cholesterol1.69705872
31MP0003868_abnormal_feces_composition1.68559857
32MP0003724_increased_susceptibility_to1.67149562
33MP0003941_abnormal_skin_development1.59889991
34MP0005257_abnormal_intraocular_pressure1.56107288
35MP0004233_abnormal_muscle_weight1.55446875
36MP0000490_abnormal_crypts_of1.51757396
37MP0005408_hypopigmentation1.51718624
38MP0003453_abnormal_keratinocyte_physiol1.50559932
39MP0000681_abnormal_thyroid_gland1.50129932
40MP0002177_abnormal_outer_ear1.49645241
41MP0004264_abnormal_extraembryonic_tissu1.46218586
42MP0003436_decreased_susceptibility_to1.43990864
43MP0008260_abnormal_autophagy1.43840976
44MP0000767_abnormal_smooth_muscle1.42270118
45MP0009384_cardiac_valve_regurgitation1.40429431
46MP0003195_calcinosis1.38719517
47MP0002796_impaired_skin_barrier1.35859632
48MP0005075_abnormal_melanosome_morpholog1.29778246
49MP0002938_white_spotting1.27149193
50MP0001542_abnormal_bone_strength1.27083832
51MP0002095_abnormal_skin_pigmentation1.26441844
52MP0000733_abnormal_muscle_development1.25279079
53MP0005503_abnormal_tendon_morphology1.24512219
54MP0005083_abnormal_biliary_tract1.23554410
55MP0004272_abnormal_basement_membrane1.22039930
56MP0001915_intracranial_hemorrhage1.20501146
57MP0003283_abnormal_digestive_organ1.20103637
58MP0005501_abnormal_skin_physiology1.19118752
59MP0002933_joint_inflammation1.18818513
60MP0001243_abnormal_dermal_layer1.18416020
61MP0000465_gastrointestinal_hemorrhage1.18080226
62MP0009053_abnormal_anal_canal1.18008020
63MP0000751_myopathy1.17016740
64MP0000537_abnormal_urethra_morphology1.16356449
65MP0001348_abnormal_lacrimal_gland1.15196090
66MP0002396_abnormal_hematopoietic_system1.14388078
67MP0003950_abnormal_plasma_membrane1.13210530
68MP0003329_amyloid_beta_deposits1.10229885
69MP0005365_abnormal_bile_salt1.10031340
70MP0002089_abnormal_postnatal_growth/wei1.08780449
71MP0000049_abnormal_middle_ear1.08641622
72MP0000003_abnormal_adipose_tissue1.08550114
73MP0004185_abnormal_adipocyte_glucose1.08386454
74MP0000858_altered_metastatic_potential1.06923860
75MP0010030_abnormal_orbit_morphology1.06828004
76MP0003183_abnormal_peptide_metabolism1.05251026
77MP0001835_abnormal_antigen_presentation1.04881557
78MP0000762_abnormal_tongue_morphology1.04566543
79MP0001533_abnormal_skeleton_physiology1.03951952
80MP0001216_abnormal_epidermal_layer1.03573081
81MP0002098_abnormal_vibrissa_morphology1.02711439
82MP0001666_abnormal_nutrient_absorption1.02111879
83MP0009333_abnormal_splenocyte_physiolog1.01211306
84MP0005671_abnormal_response_to1.00141406
85MP0005621_abnormal_cell_physiology0.99885364
86MP0002060_abnormal_skin_morphology0.98133390
87MP0004782_abnormal_surfactant_physiolog0.97825475
88MP0003448_altered_tumor_morphology0.97361859
89MP0000566_synostosis0.96393691
90MP0003763_abnormal_thymus_physiology0.96236877
91MP0000534_abnormal_ureter_morphology0.96060065
92MP0004947_skin_inflammation0.95709318
93MP0005379_endocrine/exocrine_gland_phen0.94813562
94MP0001986_abnormal_taste_sensitivity0.93829728
95MP0008007_abnormal_cellular_replicative0.93448974
96MP0009785_altered_susceptibility_to0.91973914
97MP0002928_abnormal_bile_duct0.91353672
98MP0003795_abnormal_bone_structure0.91287113
99MP0002282_abnormal_trachea_morphology0.90843122
100MP0010155_abnormal_intestine_physiology0.90720132
101MP0005390_skeleton_phenotype0.90390747
102MP0000163_abnormal_cartilage_morphology0.89545238
103MP0003866_abnormal_defecation0.89359772
104MP0002896_abnormal_bone_mineralization0.89331221
105MP0000371_diluted_coat_color0.87778533
106MP0005058_abnormal_lysosome_morphology0.87751403
107MP0005084_abnormal_gallbladder_morpholo0.87556384
108MP0002998_abnormal_bone_remodeling0.86958257
109MP0000372_irregular_coat_pigmentation0.86820863
110MP0003943_abnormal_hepatobiliary_system0.85340515
111MP0009780_abnormal_chondrocyte_physiolo0.85317959
112MP0003315_abnormal_perineum_morphology0.84668814
113MP0000462_abnormal_digestive_system0.82714774
114MP0005360_urolithiasis0.82567288
115MP0002139_abnormal_hepatobiliary_system0.82481058
116MP0002148_abnormal_hypersensitivity_rea0.82190691
117MP0009643_abnormal_urine_homeostasis0.82035822
118MP0005275_abnormal_skin_tensile0.81912222
119MP0001853_heart_inflammation0.81497779
120MP0002876_abnormal_thyroid_physiology0.81048173
121MP0005197_abnormal_uvea_morphology0.80881865
122MP0001730_embryonic_growth_arrest0.80851410
123MP0003115_abnormal_respiratory_system0.80151426
124MP0005023_abnormal_wound_healing0.80023603
125MP0000013_abnormal_adipose_tissue0.79221347
126MP0001873_stomach_inflammation0.78846807
127MP0003385_abnormal_body_wall0.78283140
128MP0003252_abnormal_bile_duct0.77733269
129MP0005165_increased_susceptibility_to0.77419178
130MP0000604_amyloidosis0.77401044
131MP0004043_abnormal_pH_regulation0.77199917
132MP0005508_abnormal_skeleton_morphology0.76414100
133MP0001186_pigmentation_phenotype0.76218687
134MP0002295_abnormal_pulmonary_circulatio0.75936525
135MP0001845_abnormal_inflammatory_respons0.75807571
136MP0002086_abnormal_extraembryonic_tissu0.75456674
137MP0010386_abnormal_urinary_bladder0.75456283
138MP0000470_abnormal_stomach_morphology0.75205750
139MP0005000_abnormal_immune_tolerance0.75201674
140MP0009931_abnormal_skin_appearance0.75026570
141MP0002419_abnormal_innate_immunity0.74774015
142MP0005025_abnormal_response_to0.74203910
143MP0001661_extended_life_span0.73899228
144MP0001614_abnormal_blood_vessel0.73524055
145MP0006292_abnormal_olfactory_placode0.72676646
146MP0000477_abnormal_intestine_morphology0.72512197
147MP0003172_abnormal_lysosome_physiology0.72500686
148MP0000685_abnormal_immune_system0.72036227
149MP0000579_abnormal_nail_morphology0.71759701
150MP0003566_abnormal_cell_adhesion0.71432821
151MP0003300_gastrointestinal_ulcer0.71318032
152MP0003942_abnormal_urinary_system0.71075448
153MP0000627_abnormal_mammary_gland0.70934447
154MP0010771_integument_phenotype0.70286783
155MP0000428_abnormal_craniofacial_morphol0.70274102
156MP0002075_abnormal_coat/hair_pigmentati0.68498349
157MP0005164_abnormal_response_to0.68414982
158MP0005464_abnormal_platelet_physiology0.67941697
159MP0005375_adipose_tissue_phenotype0.67603304
160MP0002249_abnormal_larynx_morphology0.67282272
161MP0002113_abnormal_skeleton_development0.65455857
162MP0000747_muscle_weakness0.64851944
163MP0005384_cellular_phenotype0.64665449
164MP0000467_abnormal_esophagus_morphology0.64478617
165MP0001299_abnormal_eye_distance/0.64248393
166MP0004808_abnormal_hematopoietic_stem0.62081598
167* MP0000759_abnormal_skeletal_muscle0.61962057
168MP0000377_abnormal_hair_follicle0.61820693
169MP0002080_prenatal_lethality0.61354406
170MP0005193_abnormal_anterior_eye0.60250400

Predicted human phenotypes

RankGene SetZ-score
1Type I transferrin isoform profile (HP:0003642)5.39777629
2Reduced antithrombin III activity (HP:0001976)5.07969196
3Abnormal protein N-linked glycosylation (HP:0012347)4.48007116
4Abnormal protein glycosylation (HP:0012346)4.48007116
5Abnormal glycosylation (HP:0012345)4.48007116
6Abnormal isoelectric focusing of serum transferrin (HP:0003160)4.48007116
7Prolonged partial thromboplastin time (HP:0003645)3.86759525
8Thyroid-stimulating hormone excess (HP:0002925)3.83217832
9Abnormal sex determination (HP:0012244)3.67875292
10Sex reversal (HP:0012245)3.67875292
11Hyperinsulinemic hypoglycemia (HP:0000825)3.41566847
12Symptomatic seizures (HP:0011145)3.40228232
13Hypoglycemic seizures (HP:0002173)3.33885794
14Aortic dissection (HP:0002647)3.29043775
15Fragile skin (HP:0001030)3.22017807
16Vascular tortuosity (HP:0004948)3.21636955
17Hypothermia (HP:0002045)3.21241801
18Arterial tortuosity (HP:0005116)3.09913688
19Bladder diverticulum (HP:0000015)3.07648192
20Hypoglycemic coma (HP:0001325)3.04932861
21Wormian bones (HP:0002645)2.94938543
22Spinal rigidity (HP:0003306)2.94388931
23Thrombocytosis (HP:0001894)2.83764711
24Cerebral aneurysm (HP:0004944)2.83242052
25Abnormality of dentin (HP:0010299)2.82669103
26Hyperacusis (HP:0010780)2.78573918
27Blue sclerae (HP:0000592)2.76787585
28Abnormality of the intrinsic pathway (HP:0010989)2.75056530
29Vacuolated lymphocytes (HP:0001922)2.73763940
30Shallow orbits (HP:0000586)2.69413579
31Aortic aneurysm (HP:0004942)2.68974650
32Generalized aminoaciduria (HP:0002909)2.68448479
33Abdominal distention (HP:0003270)2.66913568
3411 pairs of ribs (HP:0000878)2.65814920
35Ulnar bowing (HP:0003031)2.63225802
36Abnormality of the common coagulation pathway (HP:0010990)2.62158727
37Ankle contracture (HP:0006466)2.61551712
38Late onset (HP:0003584)2.59399749
39Osteolytic defects of the hand bones (HP:0009699)2.59356307
40Osteolytic defects of the phalanges of the hand (HP:0009771)2.59356307
41Achilles tendon contracture (HP:0001771)2.57955501
42Short nail (HP:0001799)2.54419994
43Dilatation of the ascending aorta (HP:0005111)2.54117045
44Distal upper limb amyotrophy (HP:0007149)2.53362932
45Upper limb amyotrophy (HP:0009129)2.53362932
46Genu recurvatum (HP:0002816)2.53136942
47Soft skin (HP:0000977)2.52042952
48Follicular hyperkeratosis (HP:0007502)2.46496152
49Joint hemorrhage (HP:0005261)2.40762896
50Abnormality of the axillary hair (HP:0100134)2.38158874
51Abnormality of secondary sexual hair (HP:0009888)2.38158874
52Abnormality of the Achilles tendon (HP:0005109)2.36662973
53Mildly elevated creatine phosphokinase (HP:0008180)2.36360116
54Mucopolysacchariduria (HP:0008155)2.36122524
55Urinary glycosaminoglycan excretion (HP:0003541)2.36122524
56Cervical subluxation (HP:0003308)2.35669403
57Elbow flexion contracture (HP:0002987)2.34772954
58Beaking of vertebral bodies (HP:0004568)2.30936450
59Increased connective tissue (HP:0009025)2.27160551
60Nonimmune hydrops fetalis (HP:0001790)2.27028758
61Neonatal short-limb short stature (HP:0008921)2.26976586
62Gonadal dysgenesis (HP:0000133)2.26412659
63Flat acetabular roof (HP:0003180)2.25115958
64Mitral regurgitation (HP:0001653)2.24558865
65Mitral valve prolapse (HP:0001634)2.23284843
66Distal lower limb amyotrophy (HP:0008944)2.23042992
67Abnormality of endocrine pancreas physiology (HP:0012093)2.22519894
68Abnormality of the pancreatic islet cells (HP:0006476)2.22519894
69Disproportionate tall stature (HP:0001519)2.22134306
70Thin bony cortex (HP:0002753)2.21365508
71Increased variability in muscle fiber diameter (HP:0003557)2.20669224
72Natal tooth (HP:0000695)2.20665515
73Abnormality of the acetabulum (HP:0003170)2.19330805
74Aneurysm (HP:0002617)2.19303746
75Back pain (HP:0003418)2.15706759
76Joint laxity (HP:0001388)2.14165992
77Asymmetry of the thorax (HP:0001555)2.13171894
78Insulin resistance (HP:0000855)2.12379702
79Hyperextensible skin (HP:0000974)2.10322600
80Hand muscle atrophy (HP:0009130)2.09719798
81Dysostosis multiplex (HP:0000943)2.06000280
82Broad metatarsal (HP:0001783)2.05935646
83Pancreatic islet-cell hyperplasia (HP:0004510)2.05018421
84Aplastic anemia (HP:0001915)2.04913057
85Abnormality of the distal phalanges of the toes (HP:0010182)2.04302595
86Mitral stenosis (HP:0001718)2.03518985
87Broad face (HP:0000283)2.02174120
88Abnormality of polysaccharide metabolism (HP:0011012)2.01586939
89Abnormality of glycosaminoglycan metabolism (HP:0004371)2.01586939
90Abnormality of mucopolysaccharide metabolism (HP:0011020)2.01586939
91Cortical visual impairment (HP:0100704)2.00415526
92Germ cell neoplasia (HP:0100728)1.99994325
93Abnormal delivery (HP:0001787)1.99719494
94Epiphyseal dysplasia (HP:0002656)1.99630505
95Peritonitis (HP:0002586)1.99291432
96Abnormality of oral frenula (HP:0000190)1.99266628
97Deep venous thrombosis (HP:0002625)1.98783437
98Premature rupture of membranes (HP:0001788)1.98083470
99Abnormality of monocarboxylic acid metabolism (HP:0010996)1.98067228
100Spinal cord lesions (HP:0100561)1.97855199
101Syringomyelia (HP:0003396)1.97855199
102Abnormality of skeletal muscle fiber size (HP:0012084)1.97714720
103Abnormal number of erythroid precursors (HP:0012131)1.97310660
104Ankyloglossia (HP:0010296)1.95668625
105Insomnia (HP:0100785)1.95250908
106Generalized amyotrophy (HP:0003700)1.95089354
107Laryngomalacia (HP:0001601)1.93986873
108Abnormality of carpal bone ossification (HP:0006257)1.93608671
109Type 1 muscle fiber predominance (HP:0003803)1.93353913
110Advanced eruption of teeth (HP:0006288)1.93297176
111Biconcave vertebral bodies (HP:0004586)1.92516968
112Distal lower limb muscle weakness (HP:0009053)1.92277295
113Thoracolumbar scoliosis (HP:0002944)1.90353747
114Hyperglycemia (HP:0003074)1.89533962
115Abnormal ossification of hand bones (HP:0005921)1.89315263
116Bowel diverticulosis (HP:0005222)1.88870626
117Thoracic kyphosis (HP:0002942)1.88523193
118Abnormality of aromatic amino acid family metabolism (HP:0004338)1.88009586
119Slender build (HP:0001533)1.87392117
120Abnormality of T cell physiology (HP:0011840)1.85517762
121Menorrhagia (HP:0000132)1.83994175
122Trismus (HP:0000211)1.83162830
123Conjugated hyperbilirubinemia (HP:0002908)1.82875683
124Obstructive sleep apnea (HP:0002870)1.82595782
125Long palpebral fissure (HP:0000637)1.82207435
126Aplasia/Hypoplasia of the sacrum (HP:0008517)1.81915357
127Coxa vara (HP:0002812)1.81373050
128Impaired platelet aggregation (HP:0003540)1.79922283
129Abnormal platelet function (HP:0011869)1.79922283
130Long toe (HP:0010511)1.79517338
131Aplasia/hypoplasia of the uterus (HP:0008684)1.76311313
132Aplasia/Hypoplasia of the fovea (HP:0008060)1.75924753
133Hypoplasia of the fovea (HP:0007750)1.75924753
134Breech presentation (HP:0001623)1.74736858
135Protuberant abdomen (HP:0001538)1.74593034
136Renal duplication (HP:0000075)1.73966695
137Abnormality of cells of the erythroid lineage (HP:0012130)1.73847671
138Vertebral compression fractures (HP:0002953)1.71556031
139Knee flexion contracture (HP:0006380)1.70831643
140Cupped ribs (HP:0000887)1.69270382
141Premature skin wrinkling (HP:0100678)1.68546773
142Cerebral inclusion bodies (HP:0100314)1.66930860
143Intrahepatic cholestasis (HP:0001406)1.66798519
144Absent rod-and cone-mediated responses on ERG (HP:0007688)1.66505827
145Spondylolisthesis (HP:0003302)1.66156800
146Abnormal pancreas size (HP:0012094)1.64916923
147Aortic regurgitation (HP:0001659)1.64506282
148Hyperbilirubinemia (HP:0002904)1.62745036
149Abnormality of calcium-phosphate metabolism (HP:0100530)1.62239986
150J-shaped sella turcica (HP:0002680)1.60918039
151Selective tooth agenesis (HP:0001592)1.60840684
152Joint stiffness (HP:0001387)1.60725086
153Protrusio acetabuli (HP:0003179)1.60219510
154Thin skin (HP:0000963)1.60045594
155Centrally nucleated skeletal muscle fibers (HP:0003687)1.59676514
156Attenuation of retinal blood vessels (HP:0007843)1.59660572
157Bowed forearm bones (HP:0003956)1.59529682
158Bowing of the arm (HP:0006488)1.59529682
159Intestinal atresia (HP:0011100)1.59489736
160Congenital glaucoma (HP:0001087)1.59107700
161Missing ribs (HP:0000921)1.58743611
162Epistaxis (HP:0000421)1.58714454
163Cardiovascular calcification (HP:0011915)1.58669162
164Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.58346851
165Abnormality of magnesium homeostasis (HP:0004921)1.57877598
166Episodic fever (HP:0001954)1.57269912
167Abnormality of the thoracic spine (HP:0100711)1.57135431
168Difficulty climbing stairs (HP:0003551)1.56803753
169Hyperparathyroidism (HP:0000843)1.56615583
170Reticulocytopenia (HP:0001896)1.56433472
171Spinal cord compression (HP:0002176)1.55928354
172Opisthotonus (HP:0002179)1.55668464
173Lower limb amyotrophy (HP:0007210)1.55603892
174Atrophic scars (HP:0001075)1.54912599
175Osteomalacia (HP:0002749)1.54197321
176Craniofacial hyperostosis (HP:0004493)1.53909537
177Patchy hypopigmentation of hair (HP:0011365)1.53246080
178Lower limb hyperreflexia (HP:0002395)1.52550123
179Elevated alkaline phosphatase (HP:0003155)1.52048920
180Petechiae (HP:0000967)1.51927611
181White forelock (HP:0002211)1.50646698
182Hypoplasia of the radius (HP:0002984)1.48789939
183Abnormality of the fovea (HP:0000493)1.47891509
184Insulin-resistant diabetes mellitus (HP:0000831)1.46099969
185Platyspondyly (HP:0000926)1.45302234
186Abnormal foot bone ossification (HP:0010675)1.42653971
187Primary adrenal insufficiency (HP:0008207)1.42132209

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TNIK4.60145274
2TRIB34.20807494
3CASK3.69908117
4ERN13.21084910
5NLK2.98767207
6SMG12.92599833
7EIF2AK32.73180961
8ICK2.61634136
9PASK2.60462937
10MKNK22.55331367
11INSRR2.49851006
12FLT32.44174246
13PRPF4B2.41692445
14RIPK12.29433711
15TTN2.28518826
16CDK122.26957216
17TAOK32.17132397
18MAPK152.16657749
19STK162.07368439
20PAK42.04362367
21FGFR41.97028702
22IRAK31.92866346
23PTK21.90452040
24PKN21.88558693
25TLK11.81625537
26LATS21.79482980
27NTRK11.78154486
28IRAK41.76112246
29MKNK11.67189236
30NME21.54402283
31BLK1.49365197
32KIT1.47385444
33BCKDK1.43766789
34TEC1.38964723
35CLK11.35407377
36TESK21.34740284
37LMTK21.34427921
38PIM21.33306280
39PAK21.24305905
40SIK11.21195677
41PIK3CG1.19985303
42MTOR1.17441878
43TAOK21.17019215
44HIPK21.15393174
45BTK1.15384071
46IRAK11.14969174
47JAK31.12685545
48ACVR1B1.10575906
49PRKD21.10573067
50MYLK1.09785420
51ARAF1.07813359
52BRSK21.07340772
53EPHB21.03305322
54KSR21.01922829
55MAP3K11.01427574
56TGFBR11.01304725
57ERBB41.01107085
58VRK11.00468612
59MOS0.99845795
60SRPK10.99248560
61ZAP700.98527612
62CDC42BPA0.98341983
63MAP3K140.94201357
64LIMK10.93798780
65YES10.93194648
66MET0.92919895
67LATS10.91438032
68MAP2K20.91401290
69CDK70.91287336
70EIF2AK20.90493069
71MAP3K100.90207527
72FRK0.86654750
73RPS6KA20.84888447
74TBK10.81604379
75CDK60.81584737
76RPS6KA40.81097803
77BMPR1B0.80731405
78EPHA30.79451955
79MAP3K130.78857160
80MAP3K30.78750605
81STK380.78532898
82PDGFRB0.78447997
83MAP3K80.78259272
84DYRK30.74648262
85PRKD30.74461977
86MST40.74136828
87PTK60.73402582
88MAP3K60.72038487
89CHUK0.71260985
90MUSK0.71115754
91EPHA20.70757358
92WEE10.70645304
93KDR0.69244233
94TYK20.62048392
95TESK10.60206941
96AKT30.59754169
97MAPKAPK30.59297924
98PIM10.58977619
99PDPK10.58968582
100ROCK20.58832853
101TGFBR20.58589277
102IKBKE0.57842861
103PRKG20.57552063
104SIK30.55806107
105MATK0.55794778
106MAP2K30.54386143
107ILK0.54107528
108BMX0.54082155
109EPHB10.53946114
110RET0.53788854
111NEK90.53351156
112IRAK20.52844964
113SCYL20.50759987
114LRRK20.50487502
115PDGFRA0.50357076
116ADRBK20.49827622
117MST1R0.49013028
118IKBKB0.48631801
119PAK10.47888326
120RPS6KB20.47464373
121PRKAA20.47219760
122FGFR30.47120361
123FER0.46128539
124JAK10.45732290
125RPS6KL10.44068956
126RPS6KC10.44068956
127ABL20.43633673
128CDK90.43400767
129EEF2K0.42673330
130DDR20.42617590
131CDK80.42426943
132EIF2AK10.41628041
133CSF1R0.41187860
134MAPKAPK20.40983607
135BRAF0.40598081
136CDK40.40358919
137MARK20.40037138
138ITK0.39837395
139DYRK1B0.39555436
140RPS6KA50.38660075
141CSK0.38491232
142BRD40.38293348
143GRK10.37463783
144LCK0.36950623
145ZAK0.36848022
146MAPK110.36789112
147GSK3A0.36681460
148MAP3K20.36364128
149TXK0.35627382
150DYRK20.35389113
151AKT20.35253635
152LYN0.34899668
153MELK0.33606506
154STK100.33403067
155TIE10.32346533
156MAP4K10.32038846
157TAOK10.32014949
158TRPM70.31794199
159RPS6KA60.31039133
160DMPK0.26657069

Predicted pathways (KEGG)

RankGene SetZ-score
1Maturity onset diabetes of the young_Homo sapiens_hsa049505.07003027
2* Protein export_Homo sapiens_hsa030604.89834014
3* Protein processing in endoplasmic reticulum_Homo sapiens_hsa041412.61241090
4N-Glycan biosynthesis_Homo sapiens_hsa005102.60672399
5Sulfur metabolism_Homo sapiens_hsa009202.31223822
6Other glycan degradation_Homo sapiens_hsa005112.21764173
7DNA replication_Homo sapiens_hsa030302.03728583
8Focal adhesion_Homo sapiens_hsa045101.99657302
9One carbon pool by folate_Homo sapiens_hsa006701.99579003
10Chronic myeloid leukemia_Homo sapiens_hsa052201.94964665
11Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.93673192
12Selenocompound metabolism_Homo sapiens_hsa004501.91498118
13Central carbon metabolism in cancer_Homo sapiens_hsa052301.85401767
14Prion diseases_Homo sapiens_hsa050201.78930574
15Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.76336944
16Folate biosynthesis_Homo sapiens_hsa007901.70075128
17Thyroid cancer_Homo sapiens_hsa052161.68465981
18Ribosome_Homo sapiens_hsa030101.68256091
19Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.61000391
20Proteoglycans in cancer_Homo sapiens_hsa052051.59550532
21Glycosaminoglycan degradation_Homo sapiens_hsa005311.59156047
22AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.55839132
23Amoebiasis_Homo sapiens_hsa051461.54270463
24Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.53458721
25Pancreatic cancer_Homo sapiens_hsa052121.48110839
26Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.39267862
27Pentose phosphate pathway_Homo sapiens_hsa000301.37920293
28Fructose and mannose metabolism_Homo sapiens_hsa000511.34408482
29Mismatch repair_Homo sapiens_hsa034301.33104410
30Base excision repair_Homo sapiens_hsa034101.29224162
31Adherens junction_Homo sapiens_hsa045201.26994112
32Antigen processing and presentation_Homo sapiens_hsa046121.26940853
33Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.24305731
34Non-small cell lung cancer_Homo sapiens_hsa052231.24056881
35Biosynthesis of amino acids_Homo sapiens_hsa012301.21641310
36Endometrial cancer_Homo sapiens_hsa052131.21081135
37Homologous recombination_Homo sapiens_hsa034401.19943704
38Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.16209938
39Pyrimidine metabolism_Homo sapiens_hsa002401.14607145
40MicroRNAs in cancer_Homo sapiens_hsa052061.13397264
41Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.13207629
42Shigellosis_Homo sapiens_hsa051311.11202826
43Renal cell carcinoma_Homo sapiens_hsa052111.10677712
44Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.09779787
45Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.08473403
46Fanconi anemia pathway_Homo sapiens_hsa034601.06413563
47VEGF signaling pathway_Homo sapiens_hsa043701.05689248
48Regulation of actin cytoskeleton_Homo sapiens_hsa048101.03856290
49Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.03808105
50Glioma_Homo sapiens_hsa052141.03158332
51Spliceosome_Homo sapiens_hsa030401.02081198
52Sulfur relay system_Homo sapiens_hsa041221.02041710
53Protein digestion and absorption_Homo sapiens_hsa049741.00935769
54Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.00484647
552-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.99519708
56Nucleotide excision repair_Homo sapiens_hsa034200.99252771
57Thyroid hormone signaling pathway_Homo sapiens_hsa049190.99103000
58Leukocyte transendothelial migration_Homo sapiens_hsa046700.98383437
59NF-kappa B signaling pathway_Homo sapiens_hsa040640.97989387
60* Vibrio cholerae infection_Homo sapiens_hsa051100.97765044
61Transcriptional misregulation in cancer_Homo sapiens_hsa052020.97465573
62Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.95737387
63Cyanoamino acid metabolism_Homo sapiens_hsa004600.95524650
64Sphingolipid metabolism_Homo sapiens_hsa006000.94662779
65Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.94050783
66Neurotrophin signaling pathway_Homo sapiens_hsa047220.93082002
67Arachidonic acid metabolism_Homo sapiens_hsa005900.91464599
68Vitamin digestion and absorption_Homo sapiens_hsa049770.91054332
69Apoptosis_Homo sapiens_hsa042100.89875704
70Histidine metabolism_Homo sapiens_hsa003400.89858900
71ABC transporters_Homo sapiens_hsa020100.88158659
72Hepatitis C_Homo sapiens_hsa051600.88100291
73Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.85247640
74p53 signaling pathway_Homo sapiens_hsa041150.82587928
75RNA polymerase_Homo sapiens_hsa030200.81340547
76mTOR signaling pathway_Homo sapiens_hsa041500.80977735
77Lysosome_Homo sapiens_hsa041420.80904365
78Insulin signaling pathway_Homo sapiens_hsa049100.79616784
79Toxoplasmosis_Homo sapiens_hsa051450.79266697
80Non-homologous end-joining_Homo sapiens_hsa034500.79184665
81RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.78748869
82ErbB signaling pathway_Homo sapiens_hsa040120.78410561
83TNF signaling pathway_Homo sapiens_hsa046680.78310728
84Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.77973428
85Endocytosis_Homo sapiens_hsa041440.77656480
86Legionellosis_Homo sapiens_hsa051340.77465088
87Pentose and glucuronate interconversions_Homo sapiens_hsa000400.77412297
88Measles_Homo sapiens_hsa051620.77033640
89ECM-receptor interaction_Homo sapiens_hsa045120.76954447
90Systemic lupus erythematosus_Homo sapiens_hsa053220.76636094
91Salmonella infection_Homo sapiens_hsa051320.76295398
92Complement and coagulation cascades_Homo sapiens_hsa046100.75999723
93Herpes simplex infection_Homo sapiens_hsa051680.73015198
94Melanoma_Homo sapiens_hsa052180.72584183
95Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.72353635
96AMPK signaling pathway_Homo sapiens_hsa041520.72254727
97Leishmaniasis_Homo sapiens_hsa051400.71607375
98Estrogen signaling pathway_Homo sapiens_hsa049150.71215846
99Hematopoietic cell lineage_Homo sapiens_hsa046400.70985974
100Prolactin signaling pathway_Homo sapiens_hsa049170.70935306
101Acute myeloid leukemia_Homo sapiens_hsa052210.70804893
102Pathways in cancer_Homo sapiens_hsa052000.70538664
103Carbon metabolism_Homo sapiens_hsa012000.70254174
104Galactose metabolism_Homo sapiens_hsa000520.70145034
105Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.68570372
106Prostate cancer_Homo sapiens_hsa052150.68142172
107Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.67552312
108Dilated cardiomyopathy_Homo sapiens_hsa054140.66982887
109Small cell lung cancer_Homo sapiens_hsa052220.66654151
110Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.66477374
111Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.66202320
112Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.65983562
113Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.65580928
114Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.65025500
115Fat digestion and absorption_Homo sapiens_hsa049750.64821798
116Drug metabolism - other enzymes_Homo sapiens_hsa009830.64038966
117Longevity regulating pathway - mammal_Homo sapiens_hsa042110.63291921
118Hippo signaling pathway_Homo sapiens_hsa043900.62477354
119Insulin resistance_Homo sapiens_hsa049310.62461149
120Colorectal cancer_Homo sapiens_hsa052100.61770985
121Phospholipase D signaling pathway_Homo sapiens_hsa040720.60694058
122Basal cell carcinoma_Homo sapiens_hsa052170.60427803
123Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.60393302
124Linoleic acid metabolism_Homo sapiens_hsa005910.59941359
125HTLV-I infection_Homo sapiens_hsa051660.59682487
126Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.59355729
127Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.59063708
128Jak-STAT signaling pathway_Homo sapiens_hsa046300.58933376
129Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.58632142
130Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.57845891
131Tryptophan metabolism_Homo sapiens_hsa003800.57297365
132Sphingolipid signaling pathway_Homo sapiens_hsa040710.56995576
133Malaria_Homo sapiens_hsa051440.55841376
134Starch and sucrose metabolism_Homo sapiens_hsa005000.54845739
135Fatty acid elongation_Homo sapiens_hsa000620.54738432
136HIF-1 signaling pathway_Homo sapiens_hsa040660.53971772
137Arginine biosynthesis_Homo sapiens_hsa002200.52787850
138alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.52207860
139Allograft rejection_Homo sapiens_hsa053300.51815739
140Thyroid hormone synthesis_Homo sapiens_hsa049180.51594454
141Cell cycle_Homo sapiens_hsa041100.51427860
142Adipocytokine signaling pathway_Homo sapiens_hsa049200.51068980
143Lysine degradation_Homo sapiens_hsa003100.50253732
144Pertussis_Homo sapiens_hsa051330.50036135
145Renin-angiotensin system_Homo sapiens_hsa046140.49884109
146Type I diabetes mellitus_Homo sapiens_hsa049400.49442614
147Purine metabolism_Homo sapiens_hsa002300.49360027
148Viral carcinogenesis_Homo sapiens_hsa052030.49233547
149Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.49201265
150GnRH signaling pathway_Homo sapiens_hsa049120.48733760
151Basal transcription factors_Homo sapiens_hsa030220.48552399
152Choline metabolism in cancer_Homo sapiens_hsa052310.47511020
153Inositol phosphate metabolism_Homo sapiens_hsa005620.47247050
154Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.45838263
155RNA degradation_Homo sapiens_hsa030180.45567924
156Vitamin B6 metabolism_Homo sapiens_hsa007500.45331743
157PI3K-Akt signaling pathway_Homo sapiens_hsa041510.45142867
158Notch signaling pathway_Homo sapiens_hsa043300.44741492
159Influenza A_Homo sapiens_hsa051640.44644158
160RNA transport_Homo sapiens_hsa030130.44632424
161Retinol metabolism_Homo sapiens_hsa008300.44615364
162Intestinal immune network for IgA production_Homo sapiens_hsa046720.44498675
163Proteasome_Homo sapiens_hsa030500.42929911
164Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.42531306
165Autoimmune thyroid disease_Homo sapiens_hsa053200.42413430
166Steroid hormone biosynthesis_Homo sapiens_hsa001400.42358608
167Bladder cancer_Homo sapiens_hsa052190.41179110
168Toll-like receptor signaling pathway_Homo sapiens_hsa046200.40941234
169Hepatitis B_Homo sapiens_hsa051610.40435508
170Arginine and proline metabolism_Homo sapiens_hsa003300.39725793
171Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.39567185
172Staphylococcus aureus infection_Homo sapiens_hsa051500.39372772

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