VAMP3

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: Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Because of its high homology to other known VAMPs, its broad tissue distribution, and its subcellular localization, the protein encoded by this gene was shown to be the human equivalent of the rodent cellubrevin. In platelets the protein resides on a compartment that is not mobilized to the plasma membrane on calcium or thrombin stimulation. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1barbed-end actin filament capping (GO:0051016)4.52645069
2skin morphogenesis (GO:0043589)4.46551349
3telomere maintenance via semi-conservative replication (GO:0032201)4.32846012
4ribosome assembly (GO:0042255)4.30159380
5DNA strand elongation involved in DNA replication (GO:0006271)4.19633595
6proteasome assembly (GO:0043248)4.17524735
7Golgi transport vesicle coating (GO:0048200)4.16062510
8COPI coating of Golgi vesicle (GO:0048205)4.16062510
9DNA strand elongation (GO:0022616)4.02246511
10DNA deamination (GO:0045006)3.99113491
11cell adhesion mediated by integrin (GO:0033627)3.98708155
12termination of RNA polymerase III transcription (GO:0006386)3.97143930
13transcription elongation from RNA polymerase III promoter (GO:0006385)3.97143930
14telomere maintenance via recombination (GO:0000722)3.93557113
15DNA replication initiation (GO:0006270)3.93061618
16DNA replication checkpoint (GO:0000076)3.92780869
17protein localization to endosome (GO:0036010)3.89960225
18nucleobase biosynthetic process (GO:0046112)3.65570847
19deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.63194004
20purine nucleobase biosynthetic process (GO:0009113)3.59882005
21rRNA modification (GO:0000154)3.59440412
22mitotic recombination (GO:0006312)3.59300862
23CENP-A containing nucleosome assembly (GO:0034080)3.58882272
24mitotic metaphase plate congression (GO:0007080)3.57960213
25protein K6-linked ubiquitination (GO:0085020)3.57163993
267-methylguanosine mRNA capping (GO:0006370)3.52597763
27telomere maintenance via telomere lengthening (GO:0010833)3.50071092
28mitochondrial DNA replication (GO:0006264)3.49498619
29chromatin remodeling at centromere (GO:0031055)3.48878424
30virion attachment to host cell (GO:0019062)3.48033273
31adhesion of symbiont to host cell (GO:0044650)3.48033273
32deoxyribonucleotide biosynthetic process (GO:0009263)3.47831636
337-methylguanosine RNA capping (GO:0009452)3.47178189
34RNA capping (GO:0036260)3.47178189
35DNA-dependent DNA replication (GO:0006261)3.46436449
36glycosphingolipid catabolic process (GO:0046479)3.44702608
37hyaluronan catabolic process (GO:0030214)3.43682083
38ribosome biogenesis (GO:0042254)3.43296100
39hypotonic response (GO:0006971)3.42399839
40membrane raft organization (GO:0031579)3.42324559
41regulation of nuclear cell cycle DNA replication (GO:0033262)3.41383328
42maturation of SSU-rRNA (GO:0030490)3.39476570
43keratan sulfate catabolic process (GO:0042340)3.39151573
44regulation of metalloenzyme activity (GO:0048552)3.38011698
45regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.37392050
46pinocytosis (GO:0006907)3.35590624
47transcription from RNA polymerase I promoter (GO:0006360)3.35419458
48apoptotic cell clearance (GO:0043277)3.34966223
49endodermal cell differentiation (GO:0035987)3.34906503
50protein retention in ER lumen (GO:0006621)3.34250435
51negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.33041637
52ribonucleoprotein complex biogenesis (GO:0022613)3.31349977
53transcription-coupled nucleotide-excision repair (GO:0006283)3.29508423
54maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.29089666
55stress fiber assembly (GO:0043149)3.26960398
56regulation of early endosome to late endosome transport (GO:2000641)3.26688217
57termination of RNA polymerase I transcription (GO:0006363)3.26471234
58oligosaccharide catabolic process (GO:0009313)3.26352444
59formation of translation preinitiation complex (GO:0001731)3.25643917
60ribosomal small subunit biogenesis (GO:0042274)3.23677383
61regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.22811570
62ribosomal small subunit assembly (GO:0000028)3.22589603
63positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.22571051
64anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.21296529
65negative regulation of protein localization to plasma membrane (GO:1903077)3.20975298
66ribosomal large subunit biogenesis (GO:0042273)3.19986950
67regulation of integrin-mediated signaling pathway (GO:2001044)3.16091704
68positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)3.14690414
69glycolipid catabolic process (GO:0019377)3.13065593
70kinetochore assembly (GO:0051382)3.12700033
71deoxyribonucleoside diphosphate metabolic process (GO:0009186)3.11698854
72deoxyribonucleoside triphosphate metabolic process (GO:0009200)3.11568874
73adhesion of symbiont to host (GO:0044406)3.09824485
74kinetochore organization (GO:0051383)3.09569763
75positive regulation of membrane protein ectodomain proteolysis (GO:0051044)3.09226080
76regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.08859781
77negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.07054271
78negative regulation of ligase activity (GO:0051352)3.07054271
79spliceosomal snRNP assembly (GO:0000387)3.06700174
80DNA replication-independent nucleosome organization (GO:0034724)3.06066203
81DNA replication-independent nucleosome assembly (GO:0006336)3.06066203
82metaphase plate congression (GO:0051310)3.05957597
83regulation of double-strand break repair via homologous recombination (GO:0010569)3.04929073
84protein maturation by protein folding (GO:0022417)3.04666319
85regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.04482813
86IMP biosynthetic process (GO:0006188)3.00669105
87maturation of 5.8S rRNA (GO:0000460)2.99689196
88transcription elongation from RNA polymerase I promoter (GO:0006362)2.99209420
89rRNA processing (GO:0006364)2.98671489
90transcription initiation from RNA polymerase I promoter (GO:0006361)2.97361055
91nucleotide-excision repair, DNA gap filling (GO:0006297)2.95740368
92spliceosomal complex assembly (GO:0000245)2.94464812
93histone exchange (GO:0043486)2.93052835
94signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.91204586
95signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.91204586
96signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.91204586
97exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.90899718
98L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.89362551
99basement membrane organization (GO:0071711)2.89281190
100regulation of membrane protein ectodomain proteolysis (GO:0051043)2.88417657
101mesodermal cell differentiation (GO:0048333)2.87237599
102G1/S transition of mitotic cell cycle (GO:0000082)2.86474613
103cell cycle G1/S phase transition (GO:0044843)2.86474613
104rRNA metabolic process (GO:0016072)2.86079257
105signal transduction involved in DNA damage checkpoint (GO:0072422)2.84728635
106signal transduction involved in DNA integrity checkpoint (GO:0072401)2.84728635
107nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.84218726
108DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.84189404
109fibril organization (GO:0097435)2.84064137
110cellular response to thyroid hormone stimulus (GO:0097067)2.83842827
111peptidyl-proline hydroxylation (GO:0019511)2.83722938
112positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.83667484
113spindle checkpoint (GO:0031577)2.83088908
114hemidesmosome assembly (GO:0031581)2.82024256
115negative regulation of mitotic sister chromatid separation (GO:2000816)2.81430549
116negative regulation of mitotic sister chromatid segregation (GO:0033048)2.81430549
117negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.81430549
118negative regulation of sister chromatid segregation (GO:0033046)2.81430549
119COPII vesicle coating (GO:0048208)2.81389908
120signal transduction involved in cell cycle checkpoint (GO:0072395)2.81092539
121extracellular fibril organization (GO:0043206)2.80062906
122blastocyst development (GO:0001824)2.79826344
123nucleobase-containing small molecule interconversion (GO:0015949)2.79757460
124* positive regulation of receptor recycling (GO:0001921)2.79407106
125signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.79273979
126intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.79273979
127establishment of chromosome localization (GO:0051303)2.77537291
128substrate-dependent cell migration (GO:0006929)2.77053007
129chondrocyte proliferation (GO:0035988)2.76661603
130rRNA methylation (GO:0031167)2.76575420
131pseudouridine synthesis (GO:0001522)2.75592828
132wound healing, spreading of epidermal cells (GO:0035313)2.75494516
133negative regulation of chromosome segregation (GO:0051985)2.74826976
134mitotic spindle assembly checkpoint (GO:0007094)2.74722256
135DNA replication-dependent nucleosome assembly (GO:0006335)2.74467242
136DNA replication-dependent nucleosome organization (GO:0034723)2.74467242
137positive regulation of ligase activity (GO:0051351)2.74447285
138transcription elongation from RNA polymerase II promoter (GO:0006368)2.73144195
139mitotic spindle checkpoint (GO:0071174)2.72871736
140antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.72792115
141negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.72647027
142spindle assembly checkpoint (GO:0071173)2.72436871
143attachment of spindle microtubules to kinetochore (GO:0008608)2.71476315
144retina vasculature morphogenesis in camera-type eye (GO:0061299)2.70753989
145peptidyl-histidine modification (GO:0018202)2.69248257
146protein hydroxylation (GO:0018126)2.69026550
147negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)2.68859618
148regulation of extracellular matrix disassembly (GO:0010715)2.67999794
149response to thyroid hormone (GO:0097066)2.64721237
150regulation of transforming growth factor beta1 production (GO:0032908)2.61660558
151ceramide catabolic process (GO:0046514)2.58807608
152vesicle coating (GO:0006901)2.57094574
153peptide catabolic process (GO:0043171)2.55374815
154epithelial cell-cell adhesion (GO:0090136)2.55365609
155regulation of mononuclear cell migration (GO:0071675)2.54264180
156negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)2.53312900
157positive regulation of extracellular matrix organization (GO:1903055)2.51271066
158negative regulation of smooth muscle cell migration (GO:0014912)2.50868639
159low-density lipoprotein particle clearance (GO:0034383)2.50326712
160positive regulation of endothelial cell apoptotic process (GO:2000353)2.49822589
161cell-substrate junction assembly (GO:0007044)2.48695033
162decidualization (GO:0046697)2.48575800
163collagen fibril organization (GO:0030199)2.48059771
164negative regulation of establishment of protein localization to plasma membrane (GO:0090005)2.47198050
165cellular response to vitamin (GO:0071295)2.44008865
166sequestering of extracellular ligand from receptor (GO:0035581)2.43831376
167blood vessel maturation (GO:0001955)2.41703688
168cellular copper ion homeostasis (GO:0006878)2.41346805
169vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.40795994
170positive regulation of blood vessel endothelial cell migration (GO:0043536)2.40745477
171negative regulation of nitric oxide biosynthetic process (GO:0045019)2.38540859
172positive regulation of Cdc42 GTPase activity (GO:0043089)2.38089751
173sphingolipid catabolic process (GO:0030149)2.38063201
174membrane lipid catabolic process (GO:0046466)2.37343505
175collagen metabolic process (GO:0032963)2.31084708
176endoplasmic reticulum calcium ion homeostasis (GO:0032469)2.30869899
177negative regulation of complement activation (GO:0045916)2.29416885
178extracellular matrix disassembly (GO:0022617)2.28902323
179endothelium development (GO:0003158)2.28566887
180desmosome organization (GO:0002934)2.28559053
181vascular endothelial growth factor signaling pathway (GO:0038084)2.26173165
182retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.24929752
183type B pancreatic cell proliferation (GO:0044342)2.24521191
184platelet degranulation (GO:0002576)2.22520647
185membrane protein ectodomain proteolysis (GO:0006509)2.21946240
186regulation of type B pancreatic cell apoptotic process (GO:2000674)2.21862076
187cortical actin cytoskeleton organization (GO:0030866)2.21183429
188regulation of protein localization to plasma membrane (GO:1903076)2.21113515
189positive regulation of actin filament depolymerization (GO:0030836)2.20467977
190regulation of collagen metabolic process (GO:0010712)2.20456375
191embryo implantation (GO:0007566)2.20168500
192collagen catabolic process (GO:0030574)2.19656039
193extracellular matrix assembly (GO:0085029)2.19094170
194cellular response to arsenic-containing substance (GO:0071243)2.18981721
195multicellular organismal macromolecule metabolic process (GO:0044259)2.17801250
196cyclooxygenase pathway (GO:0019371)2.17448133
197response to laminar fluid shear stress (GO:0034616)2.16418322
198response to hyperoxia (GO:0055093)2.16108831
199response to increased oxygen levels (GO:0036296)2.16108831
200iron ion import (GO:0097286)2.15858327

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human6.47286354
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.18192462
3MYC_18555785_ChIP-Seq_MESCs_Mouse4.01131813
4TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.99683576
5TRIM28_21343339_ChIP-Seq_HEK293_Human3.90141562
6GABP_17652178_ChIP-ChIP_JURKAT_Human3.73105885
7RARG_19884340_ChIP-ChIP_MEFs_Mouse3.56024525
8EST1_17652178_ChIP-ChIP_JURKAT_Human3.46199968
9JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.31710966
10E2F4_17652178_ChIP-ChIP_JURKAT_Human3.19586085
11CREB1_15753290_ChIP-ChIP_HEK293T_Human3.18622909
12ETS1_20019798_ChIP-Seq_JURKAT_Human3.10849505
13EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.93645530
14FOXM1_23109430_ChIP-Seq_U2OS_Human2.92535886
15* CLOCK_20551151_ChIP-Seq_293T_Human2.92048925
16* NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.89929896
17PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.80692745
18FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.80692014
19SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.80664423
20TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.80516355
21* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.78815954
22MYC_18358816_ChIP-ChIP_MESCs_Mouse2.76418034
23MYC_19079543_ChIP-ChIP_MESCs_Mouse2.76030245
24SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.70249625
25NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.69922169
26NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.66395377
27* CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.63450675
28GATA2_21666600_ChIP-Seq_HMVEC_Human2.56678077
29Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.55023032
30CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.53029898
31NELFA_20434984_ChIP-Seq_ESCs_Mouse2.52311881
32MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.49254121
33VDR_23849224_ChIP-Seq_CD4+_Human2.46242785
34TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.41759145
35* SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse2.39927766
36CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.39613075
37XRN2_22483619_ChIP-Seq_HELA_Human2.27135263
38ELF1_17652178_ChIP-ChIP_JURKAT_Human2.27018660
39NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.26452781
40HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.23917140
41HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.23385969
42ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.22684926
43* MYB_21317192_ChIP-Seq_ERMYB_Mouse2.21403319
44SMAD_19615063_ChIP-ChIP_OVARY_Human2.19424150
45PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.19022635
46MYBL2_22936984_ChIP-ChIP_MESCs_Mouse2.18780775
47RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.17601718
48E2F1_18555785_ChIP-Seq_MESCs_Mouse2.16457907
49E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.09990659
50EGR1_19374776_ChIP-ChIP_THP-1_Human2.03026078
51* ELK1_19687146_ChIP-ChIP_HELA_Human2.02752873
52SMAD3_18955504_ChIP-ChIP_HaCaT_Human2.02364567
53SMAD2_18955504_ChIP-ChIP_HaCaT_Human2.02364567
54SALL4_18804426_ChIP-ChIP_XEN_Mouse1.99014991
55RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.98086052
56DCP1A_22483619_ChIP-Seq_HELA_Human1.97235220
57CJUN_26792858_Chip-Seq_BT549_Human1.95884742
58* BRD4_25478319_ChIP-Seq_HGPS_Human1.94740912
59* ELK3_25401928_ChIP-Seq_HUVEC_Human1.94612654
60AR_21909140_ChIP-Seq_LNCAP_Human1.90156564
61* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.89897021
62FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.88704481
63MYCN_18555785_ChIP-Seq_MESCs_Mouse1.86372950
64FOXP3_21729870_ChIP-Seq_TREG_Human1.85964229
65PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.84639135
66PPAR_26484153_Chip-Seq_NCI-H1993_Human1.84059134
67GABP_19822575_ChIP-Seq_HepG2_Human1.83928601
68SRF_21415370_ChIP-Seq_HL-1_Mouse1.82930212
69NANOG_18555785_ChIP-Seq_MESCs_Mouse1.79614918
70TTF2_22483619_ChIP-Seq_HELA_Human1.77052621
71SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.76639533
72RXR_22158963_ChIP-Seq_LIVER_Mouse1.74983229
73* SOX2_20726797_ChIP-Seq_SW620_Human1.74229662
74* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.71991009
75THAP11_20581084_ChIP-Seq_MESCs_Mouse1.71610230
76JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.70654846
77SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.67807918
78ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.66949559
79CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.65518264
80ESR2_21235772_ChIP-Seq_MCF-7_Human1.65089858
81IRF8_27001747_Chip-Seq_BMDM_Mouse1.62406139
82POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.62006320
83PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.61323173
84TBX20_22080862_ChIP-Seq_HEART_Mouse1.60795091
85TBX20_22328084_ChIP-Seq_HEART_Mouse1.60795091
86YY1_21170310_ChIP-Seq_MESCs_Mouse1.60430759
87HOXB4_20404135_ChIP-ChIP_EML_Mouse1.59228611
88FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.58553111
89JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.57712458
90YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.56740308
91HIF1A_21447827_ChIP-Seq_MCF-7_Human1.55977783
92EP300_21415370_ChIP-Seq_HL-1_Mouse1.54367725
93CDX2_19796622_ChIP-Seq_MESCs_Mouse1.53067944
94E2F1_21310950_ChIP-Seq_MCF-7_Human1.51468494
95WT1_19549856_ChIP-ChIP_CCG9911_Human1.49848720
96ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.47723657
97SOX2_27498859_Chip-Seq_STOMACH_Mouse1.44528137
98SOX9_24532713_ChIP-Seq_HFSC_Mouse1.43815973
99LXR_22158963_ChIP-Seq_LIVER_Mouse1.42528689
100* P300_27058665_Chip-Seq_ZR-75-30cells_Human1.42151292
101HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.40449830
102ATF3_27146783_Chip-Seq_COLON_Human1.39916652
103* ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.38831487
104KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.38830830
105KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.38830830
106KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.38830830
107ELK1_22589737_ChIP-Seq_MCF10A_Human1.38588189
108KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.37034762
109TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.35806243
110BP1_19119308_ChIP-ChIP_Hs578T_Human1.34380783
111* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.33987551
112FOXO3_23340844_ChIP-Seq_DLD1_Human1.32017857
113* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.31649088
114TP63_19390658_ChIP-ChIP_HaCaT_Human1.30865390
115TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.30820301
116NRF2_20460467_ChIP-Seq_MEFs_Mouse1.30448221
117NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.30448221
118FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.29605264
119RACK7_27058665_Chip-Seq_MCF-7_Human1.29434854
120ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.27682609
121* PADI4_21655091_ChIP-ChIP_MCF-7_Human1.26882490
122* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.26253049
123ERG_20887958_ChIP-Seq_HPC-7_Mouse1.26058602
124CIITA_25753668_ChIP-Seq_RAJI_Human1.25723585
125PPARA_22158963_ChIP-Seq_LIVER_Mouse1.25687824
126ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.25674331
127THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.25585731
128* UBF1/2_26484160_Chip-Seq_HMECs_Human1.24560609
129FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.24215882
130BRD4_27068464_Chip-Seq_AML-cells_Mouse1.23721722
131NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.23113523
132ESR1_21235772_ChIP-Seq_MCF-7_Human1.22483823
133PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.21910214
134POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.20697015
135ZNF263_19887448_ChIP-Seq_K562_Human1.18952788
136NFIB_24661679_ChIP-Seq_LUNG_Mouse1.16617840
137TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.16181853
138POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.15260691
139CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.15190754
140NOTCH1_21737748_ChIP-Seq_TLL_Human1.14403078
141SMC1_22415368_ChIP-Seq_MEFs_Mouse1.13244151
142TFEB_21752829_ChIP-Seq_HELA_Human1.13089856
143KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.12462595
144* KDM5A_27292631_Chip-Seq_BREAST_Human1.12236898
145WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.11199384
146E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.08389567
147SOX17_20123909_ChIP-Seq_XEN_Mouse1.06936047
148PPARG_20887899_ChIP-Seq_3T3-L1_Mouse1.06578942
149FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.06107755
150SPI1_23127762_ChIP-Seq_K562_Human1.05120525
151FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.02931967
152STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.02787338
153* SPI1_23547873_ChIP-Seq_NB4_Human1.02016084
154STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.01330151
155ZNF217_24962896_ChIP-Seq_MCF-7_Human1.00114270
156BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.98458070
157SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.98266901
158NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.98208317
159NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.96857066
160CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.96198486
161* KLF4_18555785_ChIP-Seq_MESCs_Mouse0.96046890
162TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.95626839
163CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.95017545
164DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.94886818
165MECOM_23826213_ChIP-Seq_KASUMI_Mouse0.94560158
166* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.94354173
167GATA4_25053715_ChIP-Seq_YYC3_Human0.92264435
168IRF8_21731497_ChIP-ChIP_J774_Mouse0.92074487
169MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.91383036
170SOX2_18555785_ChIP-Seq_MESCs_Mouse0.90926144
171GATA4_21415370_ChIP-Seq_HL-1_Mouse0.90340027
172PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.89925430
173ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.89847268
174TCF3_18692474_ChIP-Seq_MEFs_Mouse0.89276943
175VDR_24787735_ChIP-Seq_THP-1_Human0.89153195
176* PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.89136229
177CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.87960096
178GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.85848096
179DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.85582473
180MYC_18940864_ChIP-ChIP_HL60_Human0.85385084
181TP63_23658742_ChIP-Seq_EP156T_Human0.85267794
182NANOG_16153702_ChIP-ChIP_HESCs_Human0.84835630
183HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.83096213
184EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.82951196
185SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.82463122
186NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.79498612
187STAT3_1855785_ChIP-Seq_MESCs_Mouse0.79462649
188RBPJ_22232070_ChIP-Seq_NCS_Mouse0.79094003
189TBX5_21415370_ChIP-Seq_HL-1_Mouse0.78494579
190SOX2_18692474_ChIP-Seq_MEFs_Mouse0.77286532
191ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.76839264
192TP63_17297297_ChIP-ChIP_HaCaT_Human0.75983232

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching4.44552904
2MP0003111_abnormal_nucleus_morphology3.40717064
3MP0005058_abnormal_lysosome_morphology3.39709221
4MP0010094_abnormal_chromosome_stability3.30791047
5MP0004957_abnormal_blastocyst_morpholog3.29593076
6MP0003705_abnormal_hypodermis_morpholog3.16798755
7MP0008057_abnormal_DNA_replication3.16096876
8MP0003077_abnormal_cell_cycle3.06955253
9MP0008058_abnormal_DNA_repair3.06727221
10MP0010368_abnormal_lymphatic_system2.95847112
11MP0003191_abnormal_cellular_cholesterol2.88447157
12MP0003566_abnormal_cell_adhesion2.82502821
13MP0008007_abnormal_cellular_replicative2.67162803
14MP0005275_abnormal_skin_tensile2.64854625
15MP0008877_abnormal_DNA_methylation2.58159234
16MP0008932_abnormal_embryonic_tissue2.57714462
17MP0002877_abnormal_melanocyte_morpholog2.55431980
18MP0003279_aneurysm2.48687077
19MP0001958_emphysema2.38052329
20MP0010234_abnormal_vibrissa_follicle2.33279687
21MP0003786_premature_aging2.28071611
22MP0005257_abnormal_intraocular_pressure2.19375603
23MP0009840_abnormal_foam_cell2.11034027
24MP0003718_maternal_effect2.00573384
25MP0003123_paternal_imprinting1.85582730
26MP0003300_gastrointestinal_ulcer1.84639999
27MP0003941_abnormal_skin_development1.80902646
28MP0003186_abnormal_redox_activity1.78205501
29MP0003091_abnormal_cell_migration1.74749270
30MP0005623_abnormal_meninges_morphology1.74300365
31MP0006082_CNS_inflammation1.72676457
32MP0001730_embryonic_growth_arrest1.65183788
33MP0003075_altered_response_to1.63106608
34MP0003950_abnormal_plasma_membrane1.62590768
35MP0002060_abnormal_skin_morphology1.59803660
36MP0000767_abnormal_smooth_muscle1.53555942
37MP0005164_abnormal_response_to1.53386072
38MP0005165_increased_susceptibility_to1.51191751
39MP0003315_abnormal_perineum_morphology1.51037840
40MP0002896_abnormal_bone_mineralization1.45084947
41MP0000350_abnormal_cell_proliferation1.42769275
42MP0010030_abnormal_orbit_morphology1.42255943
43MP0009780_abnormal_chondrocyte_physiolo1.42170999
44MP0001879_abnormal_lymphatic_vessel1.41937620
45MP0003453_abnormal_keratinocyte_physiol1.40251179
46MP0003724_increased_susceptibility_to1.39731123
47MP0000566_synostosis1.38825094
48MP0006054_spinal_hemorrhage1.37500801
49MP0003172_abnormal_lysosome_physiology1.37384919
50MP0002210_abnormal_sex_determination1.35596480
51MP0002295_abnormal_pulmonary_circulatio1.35296612
52MP0001533_abnormal_skeleton_physiology1.26117536
53MP0009333_abnormal_splenocyte_physiolog1.25399099
54MP0002396_abnormal_hematopoietic_system1.25388929
55MP0008438_abnormal_cutaneous_collagen1.25036743
56MP0002998_abnormal_bone_remodeling1.23207978
57MP0010352_gastrointestinal_tract_polyps1.22717121
58MP0003303_peritoneal_inflammation1.22355953
59MP0001293_anophthalmia1.21793402
60MP0003567_abnormal_fetal_cardiomyocyte1.21593921
61MP0002160_abnormal_reproductive_system1.20055707
62MP0008004_abnormal_stomach_pH1.19989102
63MP0001672_abnormal_embryogenesis/_devel1.19455971
64MP0005380_embryogenesis_phenotype1.19455971
65MP0003937_abnormal_limbs/digits/tail_de1.17824536
66MP0001145_abnormal_male_reproductive1.17356612
67MP0001697_abnormal_embryo_size1.16918822
68MP0000313_abnormal_cell_death1.15385332
69MP0005451_abnormal_body_composition1.15011389
70MP0005171_absent_coat_pigmentation1.11839795
71MP0002277_abnormal_respiratory_mucosa1.09562890
72MP0002085_abnormal_embryonic_tissue1.09149639
73MP0008260_abnormal_autophagy1.08945829
74MP0004233_abnormal_muscle_weight1.08826982
75MP0002796_impaired_skin_barrier1.08069491
76MP0004510_myositis1.06922530
77MP0003984_embryonic_growth_retardation1.06894038
78MP0003890_abnormal_embryonic-extraembry1.06512756
79MP0005166_decreased_susceptibility_to1.05126875
80MP0005595_abnormal_vascular_smooth1.04431824
81MP0001915_intracranial_hemorrhage1.03973153
82MP0000490_abnormal_crypts_of1.03802878
83MP0001853_heart_inflammation1.03321208
84MP0000383_abnormal_hair_follicle1.02760140
85MP0002080_prenatal_lethality1.02685330
86MP0010307_abnormal_tumor_latency1.02195316
87MP0002088_abnormal_embryonic_growth/wei1.02019814
88MP0000604_amyloidosis1.01995872
89MP0003436_decreased_susceptibility_to1.01333900
90MP0009384_cardiac_valve_regurgitation1.01292117
91MP0000613_abnormal_salivary_gland0.99767876
92MP0000516_abnormal_urinary_system0.99727371
93MP0005367_renal/urinary_system_phenotyp0.99727371
94MP0005389_reproductive_system_phenotype0.99547442
95MP0001542_abnormal_bone_strength0.99507944
96MP0004133_heterotaxia0.99342622
97MP0003806_abnormal_nucleotide_metabolis0.99279051
98MP0002938_white_spotting0.98491699
99MP0008995_early_reproductive_senescence0.98412787
100MP0000653_abnormal_sex_gland0.98282165
101MP0006292_abnormal_olfactory_placode0.96513676
102MP0001929_abnormal_gametogenesis0.94472129
103MP0005390_skeleton_phenotype0.92988072
104MP0002111_abnormal_tail_morphology0.92983526
105* MP0005464_abnormal_platelet_physiology0.92329755
106MP0000751_myopathy0.92247768
107MP0004883_abnormal_blood_vessel0.91752865
108MP0002098_abnormal_vibrissa_morphology0.91421295
109MP0005408_hypopigmentation0.90862552
110MP0002019_abnormal_tumor_incidence0.90145775
111MP0001849_ear_inflammation0.89988027
112MP0000013_abnormal_adipose_tissue0.89814967
113MP0002971_abnormal_brown_adipose0.89240675
114MP0001661_extended_life_span0.88403066
115MP0006138_congestive_heart_failure0.87683266
116MP0005360_urolithiasis0.87377772
117MP0004272_abnormal_basement_membrane0.85774133
118MP0000249_abnormal_blood_vessel0.84961302
119MP0009053_abnormal_anal_canal0.84039235
120MP0000747_muscle_weakness0.82643663
121MP0005375_adipose_tissue_phenotype0.82125159
122MP0004197_abnormal_fetal_growth/weight/0.82046736
123MP0000749_muscle_degeneration0.81902459
124MP0002332_abnormal_exercise_endurance0.81538503
125MP0000647_abnormal_sebaceous_gland0.81273549
126MP0005666_abnormal_adipose_tissue0.81120208
127MP0003448_altered_tumor_morphology0.81055569
128MP0002419_abnormal_innate_immunity0.80086395
129MP0003795_abnormal_bone_structure0.79436764
130MP0002132_abnormal_respiratory_system0.78899563
131MP0005409_darkened_coat_color0.78735051
132MP0002139_abnormal_hepatobiliary_system0.78688069
133MP0002084_abnormal_developmental_patter0.78676370
134MP0003121_genomic_imprinting0.78371106
135MP0004808_abnormal_hematopoietic_stem0.77916790
136MP0002086_abnormal_extraembryonic_tissu0.76089298
137MP0001286_abnormal_eye_development0.75896497
138MP0001119_abnormal_female_reproductive0.75695060
139MP0005384_cellular_phenotype0.74831003
140MP0001614_abnormal_blood_vessel0.74709176
141MP0004185_abnormal_adipocyte_glucose0.74018588
142MP0005508_abnormal_skeleton_morphology0.73206848
143MP0005330_cardiomyopathy0.71949812
144MP0003329_amyloid_beta_deposits0.71673847
145MP0000733_abnormal_muscle_development0.70920310
146MP0005621_abnormal_cell_physiology0.70882843
147MP0003136_yellow_coat_color0.70880153
148MP0001216_abnormal_epidermal_layer0.70811687
149MP0005501_abnormal_skin_physiology0.70460390
150MP0000432_abnormal_head_morphology0.70392489
151MP0005670_abnormal_white_adipose0.70194791
152MP0005503_abnormal_tendon_morphology0.69866796
153MP0004947_skin_inflammation0.69825375
154MP0000858_altered_metastatic_potential0.69507458
155MP0004858_abnormal_nervous_system0.68949175
156MP0005395_other_phenotype0.68622628
157MP0001851_eye_inflammation0.68504719
158MP0002128_abnormal_blood_circulation0.68091701
159MP0004147_increased_porphyrin_level0.67754481
160MP0003828_pulmonary_edema0.67638597
161MP0000003_abnormal_adipose_tissue0.67445776
162MP0000465_gastrointestinal_hemorrhage0.67310241
163MP0005023_abnormal_wound_healing0.67141886
164MP0005197_abnormal_uvea_morphology0.66676487
165MP0003936_abnormal_reproductive_system0.66384961
166MP0000750_abnormal_muscle_regeneration0.65896105
167MP0002148_abnormal_hypersensitivity_rea0.65598411
168MP0002972_abnormal_cardiac_muscle0.64723710
169MP0000762_abnormal_tongue_morphology0.63985803
170MP0000428_abnormal_craniofacial_morphol0.63026089
171MP0003119_abnormal_digestive_system0.62308750
172MP0000358_abnormal_cell_content/0.60615165
173MP0000537_abnormal_urethra_morphology0.60402260
174MP0000343_altered_response_to0.59409442
175MP0001727_abnormal_embryo_implantation0.59224343
176MP0001243_abnormal_dermal_layer0.59027555
177MP0010678_abnormal_skin_adnexa0.57592438

Predicted human phenotypes

RankGene SetZ-score
1Premature rupture of membranes (HP:0001788)5.11003575
2Birth length less than 3rd percentile (HP:0003561)4.98711030
3Protrusio acetabuli (HP:0003179)4.95772032
4Breast hypoplasia (HP:0003187)4.57534159
5Abnormality of glycolipid metabolism (HP:0010969)4.28086716
6Abnormality of liposaccharide metabolism (HP:0010968)4.28086716
7Abnormality of glycosphingolipid metabolism (HP:0004343)4.28086716
8Vertebral compression fractures (HP:0002953)3.92993935
9Carpal bone hypoplasia (HP:0001498)3.74130546
10Cerebral hypomyelination (HP:0006808)3.69757822
11Chromosomal breakage induced by crosslinking agents (HP:0003221)3.51071325
12Chromsome breakage (HP:0040012)3.46430252
13Vascular tortuosity (HP:0004948)3.45372932
14Rough bone trabeculation (HP:0100670)3.37657916
15Dysostosis multiplex (HP:0000943)3.29353142
16Aortic aneurysm (HP:0004942)3.22744711
17Cervical subluxation (HP:0003308)3.21318836
18Reticulocytopenia (HP:0001896)3.14833139
19Arterial tortuosity (HP:0005116)3.14196190
20Duplicated collecting system (HP:0000081)3.11672410
21Muscle abnormality related to mitochondrial dysfunction (HP:0003800)3.11273914
22Aortic dissection (HP:0002647)3.10971475
23Progressive external ophthalmoplegia (HP:0000590)3.05589042
24Osteolytic defects of the phalanges of the hand (HP:0009771)3.05487585
25Osteolytic defects of the hand bones (HP:0009699)3.05487585
26Urinary glycosaminoglycan excretion (HP:0003541)3.03146912
27Mucopolysacchariduria (HP:0008155)3.03146912
28Vacuolated lymphocytes (HP:0001922)3.00745753
29Nuclear cataract (HP:0100018)2.93367206
30Absent radius (HP:0003974)2.92397646
31Abnormality of polysaccharide metabolism (HP:0011012)2.92074494
32Abnormality of glycosaminoglycan metabolism (HP:0004371)2.92074494
33Abnormality of mucopolysaccharide metabolism (HP:0011020)2.92074494
34Systemic lupus erythematosus (HP:0002725)2.88223525
35Abnormality of the renal collecting system (HP:0004742)2.82344924
36Patellar aplasia (HP:0006443)2.79451396
37Abnormal trabecular bone morphology (HP:0100671)2.77234537
38Meckel diverticulum (HP:0002245)2.75257654
39Spinal rigidity (HP:0003306)2.70844781
40Aplasia/Hypoplasia of the patella (HP:0006498)2.69429939
41Abnormality of the anterior horn cell (HP:0006802)2.68755197
42Degeneration of anterior horn cells (HP:0002398)2.68755197
43Aplasia involving forearm bones (HP:0009822)2.68252211
44Absent forearm bone (HP:0003953)2.68252211
45Type I transferrin isoform profile (HP:0003642)2.66366302
46Atrophic scars (HP:0001075)2.66089897
47Mitral stenosis (HP:0001718)2.65029529
48Cerebral aneurysm (HP:0004944)2.62816416
49Premature graying of hair (HP:0002216)2.58892222
50Follicular hyperkeratosis (HP:0007502)2.57403879
51Abnormality of the ileum (HP:0001549)2.56789099
52Wormian bones (HP:0002645)2.55694441
53Ankle contracture (HP:0006466)2.55323996
54Spondylolisthesis (HP:0003302)2.54987620
55Axonal loss (HP:0003447)2.54012139
56Dilatation of the ascending aorta (HP:0005111)2.51012435
57Loss of speech (HP:0002371)2.51006874
58Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.48868438
59Ectopic kidney (HP:0000086)2.45199591
60Cardiovascular calcification (HP:0011915)2.45120011
61Aplasia/Hypoplasia involving the musculature (HP:0001460)2.44445204
62Stomach cancer (HP:0012126)2.44336739
63Aplastic anemia (HP:0001915)2.43041660
64Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.42956627
65Asymmetric septal hypertrophy (HP:0001670)2.42857024
66Stenosis of the external auditory canal (HP:0000402)2.42842165
67Increased variability in muscle fiber diameter (HP:0003557)2.42350613
68Reduced subcutaneous adipose tissue (HP:0003758)2.37937335
69Selective tooth agenesis (HP:0001592)2.36658342
70Abnormality of chromosome stability (HP:0003220)2.36163512
71Trismus (HP:0000211)2.36017179
72External ophthalmoplegia (HP:0000544)2.34910092
73Amyloidosis (HP:0011034)2.33693569
74Abnormal lung lobation (HP:0002101)2.32675118
75Ovoid vertebral bodies (HP:0003300)2.30874335
76Abnormality of skeletal muscle fiber size (HP:0012084)2.30843757
77Myocardial infarction (HP:0001658)2.30476424
78Bone marrow hypocellularity (HP:0005528)2.30459379
79Abnormal spermatogenesis (HP:0008669)2.30010584
80Type 1 muscle fiber predominance (HP:0003803)2.27757969
81Fragile skin (HP:0001030)2.24271463
82Proximal tubulopathy (HP:0000114)2.23056264
83Poor head control (HP:0002421)2.22289633
84Abnormality of the preputium (HP:0100587)2.22280840
85Distal lower limb muscle weakness (HP:0009053)2.20913624
86Abnormality of cells of the erythroid lineage (HP:0012130)2.20646102
87Secondary amenorrhea (HP:0000869)2.20323555
88Neurofibrillary tangles (HP:0002185)2.20243472
89Short nail (HP:0001799)2.19540069
90Colon cancer (HP:0003003)2.19141554
91Abnormal number of erythroid precursors (HP:0012131)2.18540515
92Blue sclerae (HP:0000592)2.17613678
93Aplasia/Hypoplasia of the sacrum (HP:0008517)2.17008833
94Abnormality of the umbilical cord (HP:0010881)2.16894439
95Increased connective tissue (HP:0009025)2.15001725
96Abnormality of macrophages (HP:0004311)2.14877830
97Granulocytopenia (HP:0001913)2.14679439
98Ureteral duplication (HP:0000073)2.14277087
99Hypoplasia of the capital femoral epiphysis (HP:0003090)2.11870799
100Microretrognathia (HP:0000308)2.11491529
101Abnormality of the acetabulum (HP:0003170)2.11017208
102Irregular epiphyses (HP:0010582)2.10883172
103Oral leukoplakia (HP:0002745)2.09375643
104Vascular calcification (HP:0004934)2.09042219
105Hepatosplenomegaly (HP:0001433)2.08214983
106Peritonitis (HP:0002586)2.08068880
107Small intestinal stenosis (HP:0012848)2.07681349
108Duodenal stenosis (HP:0100867)2.07681349
109Progressive neurologic deterioration (HP:0002344)2.06812400
110Aplasia/Hypoplasia of the uvula (HP:0010293)2.04431759
111Aneurysm (HP:0002617)2.03866598
112Progressive muscle weakness (HP:0003323)2.03614284
113Macrocytic anemia (HP:0001972)2.03300206
11411 pairs of ribs (HP:0000878)2.03101184
115Soft skin (HP:0000977)2.02390037
116Fused cervical vertebrae (HP:0002949)2.01995599
117Hematochezia (HP:0002573)2.01855043
1183-Methylglutaconic aciduria (HP:0003535)2.00173168
119Abnormality of complement system (HP:0005339)1.99144271
120Achilles tendon contracture (HP:0001771)1.99079522
121Neoplasm of the pancreas (HP:0002894)1.98087285
122Aplasia/Hypoplasia of the earlobes (HP:0009906)1.97671437
123Joint stiffness (HP:0001387)1.96443131
124Absent thumb (HP:0009777)1.96139333
125Horseshoe kidney (HP:0000085)1.94905916
126Triphalangeal thumb (HP:0001199)1.94166493
127Bladder diverticulum (HP:0000015)1.94005999
128Sparse eyelashes (HP:0000653)1.93368623
129Supernumerary spleens (HP:0009799)1.92971623
130Prolonged neonatal jaundice (HP:0006579)1.92638209
131Aplasia/hypoplasia of the uterus (HP:0008684)1.91478486
132Parakeratosis (HP:0001036)1.91332094
133Glomerulonephritis (HP:0000099)1.91284508
134Interstitial pulmonary disease (HP:0006530)1.90525309
135CNS hypomyelination (HP:0003429)1.90451248
136Cleft eyelid (HP:0000625)1.89823700
137Upper motor neuron abnormality (HP:0002127)1.89482144
138Absent epiphyses (HP:0010577)1.88979091
139Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.88979091
140Aplasia/hypoplasia of the humerus (HP:0006507)1.88472412
141Hypoplasia of the radius (HP:0002984)1.87367608
142Tetraparesis (HP:0002273)1.87244436
143Abnormality of the Achilles tendon (HP:0005109)1.86904158
144Type 2 muscle fiber atrophy (HP:0003554)1.86902005
145Congenital, generalized hypertrichosis (HP:0004540)1.86506155
146Abnormality of the distal phalanges of the toes (HP:0010182)1.84986038
147Abnormality of the fetal cardiovascular system (HP:0010948)1.82401973
148Abnormal umbilical cord blood vessels (HP:0011403)1.82401973
149Single umbilical artery (HP:0001195)1.82401973
150Glossoptosis (HP:0000162)1.82348328
151Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.82037980
152Abnormality of the vasculature of the conjunctiva (HP:0008054)1.81856460
153Polycythemia (HP:0001901)1.81156378
154Adrenal hypoplasia (HP:0000835)1.81127936
155Coxa vara (HP:0002812)1.80970074
156Decreased activity of mitochondrial respiratory chain (HP:0008972)1.79855417
157Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.79855417
158Impulsivity (HP:0100710)1.78196358
159Skin nodule (HP:0200036)1.78159306
160Disinhibition (HP:0000734)1.76790245
161Generalized amyotrophy (HP:0003700)1.76131298
162Aplasia/Hypoplasia of the breasts (HP:0010311)1.75910970
163Short thumb (HP:0009778)1.74880079
164Complement deficiency (HP:0004431)1.74764963
165Breast aplasia (HP:0100783)1.74761375
166Facial cleft (HP:0002006)1.74746144
167Agnosia (HP:0010524)1.74551421
168Congenital ichthyosiform erythroderma (HP:0007431)1.74374509
169Pallor (HP:0000980)1.73781580
170Pancytopenia (HP:0001876)1.73728807
171Flat capital femoral epiphysis (HP:0003370)1.73615106
172Abnormal glycosylation (HP:0012345)1.73488693
173Abnormal protein N-linked glycosylation (HP:0012347)1.73488693
174Mildly elevated creatine phosphokinase (HP:0008180)1.69863502
175Purpura (HP:0000979)1.69049571
176Cerebral inclusion bodies (HP:0100314)1.67744147
177Mitral regurgitation (HP:0001653)1.67449561
178Increased cerebral lipofuscin (HP:0011813)1.67368527
179Upper limb amyotrophy (HP:0009129)1.66425454
180Distal upper limb amyotrophy (HP:0007149)1.66425454
181Hyperextensible skin (HP:0000974)1.66109968
182Increased CSF protein (HP:0002922)1.65641740
183Elbow flexion contracture (HP:0002987)1.63818717
184Slender build (HP:0001533)1.63627690
185Acanthosis nigricans (HP:0000956)1.61882549
186Striae distensae (HP:0001065)1.61158157
187Genu recurvatum (HP:0002816)1.60768014
188Abnormality of dentin (HP:0010299)1.60627493
189Abnormality of carpal bone ossification (HP:0006257)1.60080800
190Aortic valve stenosis (HP:0001650)1.58531131
191Conjunctival telangiectasia (HP:0000524)1.57243760
192Malnutrition (HP:0004395)1.57084807
193Cupped ribs (HP:0000887)1.57029246
194Alopecia of scalp (HP:0002293)1.56256092
195Hyporeflexia of lower limbs (HP:0002600)1.56254328
196Beaking of vertebral bodies (HP:0004568)1.53773933
197Petechiae (HP:0000967)1.53766475
198Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.53559286
199Thoracolumbar scoliosis (HP:0002944)1.53026274

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PLK44.51459068
2BUB14.34817135
3IRAK34.07745924
4ZAK3.36079960
5WEE13.16719389
6TGFBR23.07546604
7MYLK2.88712063
8STK162.88513593
9EIF2AK12.74901909
10SRPK12.58683576
11ERN12.46626468
12PDGFRA2.46223155
13IRAK42.25896877
14CDC72.24330993
15DDR22.23112412
16MOS2.21037907
17BRSK22.17706427
18EIF2AK32.12857928
19RIPK12.12180057
20PTK22.06381666
21MAP3K122.00469814
22TTK1.99168875
23LATS21.97756030
24PBK1.92428829
25NEK91.84995708
26TESK21.81974254
27PINK11.79964830
28MST1R1.79160316
29EPHA21.78333128
30VRK11.75429162
31MKNK11.75313986
32TTN1.71001483
33EPHB21.66510018
34TSSK61.65221994
35MAP2K31.62245026
36NME21.61467202
37MAP3K21.60083951
38TYK21.56589757
39EPHB11.56412381
40IRAK21.54630523
41PLK31.53626313
42PRPF4B1.51958569
43IRAK11.49677843
44PLK11.47620226
45PASK1.47154706
46ACVR1B1.45471733
47ARAF1.34592561
48KDR1.31721250
49LIMK11.28947449
50KSR21.21530935
51ATR1.21034636
52STK381.20673191
53TESK11.20041974
54BMPR21.18568750
55PAK21.18374981
56FER1.15963912
57STK38L1.12223620
58ZAP701.10862635
59MAP3K11.10281612
60DYRK31.10097245
61AURKB1.09691495
62GRK71.07641981
63CHEK21.06267399
64TRIB31.06178730
65NEK21.03325901
66CDK71.02693246
67RPS6KA41.01734529
68PDGFRB0.99312699
69PAK40.97924358
70ILK0.96111540
71MAPKAPK30.95590041
72EIF2AK20.93963329
73PIM20.93038226
74BRSK10.92980432
75PRKG20.92710270
76CLK10.90609871
77NEK60.90584246
78DMPK0.90420538
79MKNK20.90254619
80STK40.90039848
81CDC42BPA0.87969761
82SCYL20.87886070
83MAP3K80.86907063
84JAK10.86783440
85RPS6KA50.85904779
86BCR0.84399106
87MAP3K60.84203726
88CSK0.83535624
89NTRK10.82827423
90FGFR30.82197222
91TBK10.81747128
92ROCK20.80556534
93MST40.79830243
94RPS6KB20.79404744
95STK100.78016820
96TIE10.77299491
97AURKA0.76122483
98MAP3K130.74672629
99STK390.73860795
100MAP3K140.72552240
101SIK10.72399569
102CHEK10.71737714
103MET0.71017046
104PRKD20.70656678
105PTK2B0.69976769
106MAPKAPK50.68925577
107ERBB40.68864912
108DYRK20.67777957
109TLK10.67686895
110TGFBR10.66559995
111CDK60.64067928
112BMPR1B0.63825311
113JAK30.63669359
114BMX0.63375944
115PDPK10.62436231
116STK30.61834115
117GSK3A0.59232951
118PAK10.58360078
119PIK3CG0.57673693
120CSNK2A10.56812362
121BRAF0.55529532
122FGR0.55492364
123ATM0.54588430
124PRKCI0.54585277
125PTK60.54539507
126ABL20.54015983
127MAP3K50.53917770
128NUAK10.53745162
129STK240.52577136
130NLK0.51923651
131ROCK10.50682011
132WNK10.50291904
133BRD40.49936885
134AKT30.49822093
135KSR10.48841155
136ERBB30.47514304
137LMTK20.47439845
138MAP3K30.46082610
139YES10.45836812
140MARK10.45719428
141NME10.44740911
142MAP2K10.44333000
143FGFR40.44111809
144CDK80.44001038
145DAPK30.43864553
146SIK30.43458041
147CDK90.41964701
148MAP2K20.41734357
149CDK20.41164285
150IKBKB0.40763603
151PIM10.40408766
152TEC0.40156329
153CSNK2A20.40152658
154FLT30.38121956
155RAF10.37830935
156MELK0.37704698
157PDK20.37340271
158CAMK2D0.36689379
159NEK10.35614940
160CDK10.34509060
161LRRK20.34414956
162MAP3K110.32920831
163MARK30.32721070
164BCKDK0.30894302
165MAPKAPK20.28654598
166CSNK1G30.27278614
167CDK30.26710943
168TRPM70.25072547
169TAOK20.23982851
170CSNK1A1L0.23841049
171LATS10.22787588
172CHUK0.22587765

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030304.11730633
2RNA polymerase_Homo sapiens_hsa030204.00930094
3Proteasome_Homo sapiens_hsa030503.70290973
4Glycosaminoglycan degradation_Homo sapiens_hsa005313.64207024
5Mismatch repair_Homo sapiens_hsa034303.33761241
6Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.23684559
7Ribosome_Homo sapiens_hsa030103.06099105
8Spliceosome_Homo sapiens_hsa030402.79771929
9Homologous recombination_Homo sapiens_hsa034402.72332164
10Pyrimidine metabolism_Homo sapiens_hsa002402.70835569
11Base excision repair_Homo sapiens_hsa034102.46397100
12RNA transport_Homo sapiens_hsa030132.42845292
13Nucleotide excision repair_Homo sapiens_hsa034202.37196531
14Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.32987962
15Fanconi anemia pathway_Homo sapiens_hsa034602.23502174
16Protein export_Homo sapiens_hsa030602.21015613
17Sulfur metabolism_Homo sapiens_hsa009202.18796619
18Cell cycle_Homo sapiens_hsa041102.18601882
19Basal transcription factors_Homo sapiens_hsa030222.17408574
20Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.79610966
21Focal adhesion_Homo sapiens_hsa045101.78138021
22Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.77660677
23Amoebiasis_Homo sapiens_hsa051461.74088808
24Complement and coagulation cascades_Homo sapiens_hsa046101.72170947
25Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.68007321
26RNA degradation_Homo sapiens_hsa030181.65793030
27Non-homologous end-joining_Homo sapiens_hsa034501.64361409
28Purine metabolism_Homo sapiens_hsa002301.60585146
29p53 signaling pathway_Homo sapiens_hsa041151.60278910
30One carbon pool by folate_Homo sapiens_hsa006701.55056476
31Vibrio cholerae infection_Homo sapiens_hsa051101.54486971
32Galactose metabolism_Homo sapiens_hsa000521.50894628
33Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.45172572
34Bladder cancer_Homo sapiens_hsa052191.42044027
35AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.40737216
36Proteoglycans in cancer_Homo sapiens_hsa052051.38880364
37Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.38065039
38* Phagosome_Homo sapiens_hsa041451.31361290
39Salmonella infection_Homo sapiens_hsa051321.26985337
40Osteoclast differentiation_Homo sapiens_hsa043801.22035088
41Epstein-Barr virus infection_Homo sapiens_hsa051691.21347003
42Prion diseases_Homo sapiens_hsa050201.21249895
43Adherens junction_Homo sapiens_hsa045201.19505159
44PPAR signaling pathway_Homo sapiens_hsa033201.13302207
45Regulation of actin cytoskeleton_Homo sapiens_hsa048101.12672850
46Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.12272731
47Vitamin B6 metabolism_Homo sapiens_hsa007501.10733650
48mRNA surveillance pathway_Homo sapiens_hsa030151.09718317
49Glutathione metabolism_Homo sapiens_hsa004801.07962656
50Folate biosynthesis_Homo sapiens_hsa007900.99007779
51Arachidonic acid metabolism_Homo sapiens_hsa005900.98765936
52Endocytosis_Homo sapiens_hsa041440.96097039
53Pancreatic cancer_Homo sapiens_hsa052120.96069839
54Protein digestion and absorption_Homo sapiens_hsa049740.95220124
55Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.94736081
56Mineral absorption_Homo sapiens_hsa049780.93658487
57Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.93016621
58Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.92663191
59Chronic myeloid leukemia_Homo sapiens_hsa052200.91132436
60Huntingtons disease_Homo sapiens_hsa050160.90778944
61TNF signaling pathway_Homo sapiens_hsa046680.90069981
62Toll-like receptor signaling pathway_Homo sapiens_hsa046200.90026550
63Steroid biosynthesis_Homo sapiens_hsa001000.89990967
64Sphingolipid metabolism_Homo sapiens_hsa006000.89606523
65Linoleic acid metabolism_Homo sapiens_hsa005910.86183992
66Staphylococcus aureus infection_Homo sapiens_hsa051500.85856655
67Parkinsons disease_Homo sapiens_hsa050120.85452667
68Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.84284483
69Oxidative phosphorylation_Homo sapiens_hsa001900.83915043
70Tuberculosis_Homo sapiens_hsa051520.83445077
71Ether lipid metabolism_Homo sapiens_hsa005650.81469184
72Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.80185829
73Renal cell carcinoma_Homo sapiens_hsa052110.79220031
74Toxoplasmosis_Homo sapiens_hsa051450.78561241
75Herpes simplex infection_Homo sapiens_hsa051680.77851979
76Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.75088948
77Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.73609087
78Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.69937690
79Fructose and mannose metabolism_Homo sapiens_hsa000510.69680499
80Sphingolipid signaling pathway_Homo sapiens_hsa040710.69090715
81Viral carcinogenesis_Homo sapiens_hsa052030.68997446
82Rheumatoid arthritis_Homo sapiens_hsa053230.68569695
83alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.68157949
84Dilated cardiomyopathy_Homo sapiens_hsa054140.66843338
85Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.66740467
86Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.66401975
87Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.65306625
88Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.64557717
89Systemic lupus erythematosus_Homo sapiens_hsa053220.64324703
90Legionellosis_Homo sapiens_hsa051340.63251360
91NF-kappa B signaling pathway_Homo sapiens_hsa040640.62557282
92Antigen processing and presentation_Homo sapiens_hsa046120.62549382
93Circadian rhythm_Homo sapiens_hsa047100.62118835
94Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.62084556
95Fatty acid elongation_Homo sapiens_hsa000620.60667528
96PI3K-Akt signaling pathway_Homo sapiens_hsa041510.59259209
97Pentose phosphate pathway_Homo sapiens_hsa000300.59023354
98Other glycan degradation_Homo sapiens_hsa005110.58742347
99Insulin signaling pathway_Homo sapiens_hsa049100.58520444
100Collecting duct acid secretion_Homo sapiens_hsa049660.58437934
101Central carbon metabolism in cancer_Homo sapiens_hsa052300.58430121
102Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.58169301
103Platelet activation_Homo sapiens_hsa046110.57363545
104Hepatitis C_Homo sapiens_hsa051600.56920157
1052-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.55762969
106Adipocytokine signaling pathway_Homo sapiens_hsa049200.55309076
107Fatty acid metabolism_Homo sapiens_hsa012120.54895911
108Insulin resistance_Homo sapiens_hsa049310.54878850
109Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.54297791
110HTLV-I infection_Homo sapiens_hsa051660.53299848
111Shigellosis_Homo sapiens_hsa051310.51432316
112Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.50306243
113Starch and sucrose metabolism_Homo sapiens_hsa005000.50109035
114HIF-1 signaling pathway_Homo sapiens_hsa040660.49669162
115Selenocompound metabolism_Homo sapiens_hsa004500.48425016
116TGF-beta signaling pathway_Homo sapiens_hsa043500.48227363
117Phospholipase D signaling pathway_Homo sapiens_hsa040720.47843793
118Fatty acid degradation_Homo sapiens_hsa000710.47114079
119Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.46634750
120Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.46595697
121Neurotrophin signaling pathway_Homo sapiens_hsa047220.45745634
122Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.45179503
123VEGF signaling pathway_Homo sapiens_hsa043700.44943179
124Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.44892899
125African trypanosomiasis_Homo sapiens_hsa051430.44017106
126Inositol phosphate metabolism_Homo sapiens_hsa005620.42397519
127NOD-like receptor signaling pathway_Homo sapiens_hsa046210.41809696
128Regulation of autophagy_Homo sapiens_hsa041400.41721163
129Carbon metabolism_Homo sapiens_hsa012000.41573145
130Lysosome_Homo sapiens_hsa041420.41408786
131Rap1 signaling pathway_Homo sapiens_hsa040150.41400172
132Small cell lung cancer_Homo sapiens_hsa052220.41031792
133Histidine metabolism_Homo sapiens_hsa003400.41012583
134Malaria_Homo sapiens_hsa051440.40989612
135Metabolic pathways_Homo sapiens_hsa011000.40484510
136Glioma_Homo sapiens_hsa052140.40442600
137Graft-versus-host disease_Homo sapiens_hsa053320.39888221
138Autoimmune thyroid disease_Homo sapiens_hsa053200.39034708
139Measles_Homo sapiens_hsa051620.37876318
140Oocyte meiosis_Homo sapiens_hsa041140.37683056
141Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.37427068
142N-Glycan biosynthesis_Homo sapiens_hsa005100.37103029
143Apoptosis_Homo sapiens_hsa042100.36094226
144Asthma_Homo sapiens_hsa053100.35790695
145Hippo signaling pathway_Homo sapiens_hsa043900.35417889
146Leishmaniasis_Homo sapiens_hsa051400.35268094
147Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.34580814
148Arginine and proline metabolism_Homo sapiens_hsa003300.34515344
149* SNARE interactions in vesicular transport_Homo sapiens_hsa041300.34131825
150MicroRNAs in cancer_Homo sapiens_hsa052060.34043090
151Renin-angiotensin system_Homo sapiens_hsa046140.33080393
152Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.32450372
153Allograft rejection_Homo sapiens_hsa053300.32381494
154Pertussis_Homo sapiens_hsa051330.30780115
155Hematopoietic cell lineage_Homo sapiens_hsa046400.30003529
156Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.29549000
157Alzheimers disease_Homo sapiens_hsa050100.29394354
158Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.29320540
159Vitamin digestion and absorption_Homo sapiens_hsa049770.28339643
160Cysteine and methionine metabolism_Homo sapiens_hsa002700.27819334
161Drug metabolism - other enzymes_Homo sapiens_hsa009830.27081895
162Tight junction_Homo sapiens_hsa045300.26817320
163Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.26084299
164Leukocyte transendothelial migration_Homo sapiens_hsa046700.25993909
165Basal cell carcinoma_Homo sapiens_hsa052170.25863167
166Thyroid cancer_Homo sapiens_hsa052160.25634183
167Transcriptional misregulation in cancer_Homo sapiens_hsa052020.25183071
168ECM-receptor interaction_Homo sapiens_hsa045120.25148534
169Influenza A_Homo sapiens_hsa051640.24361639
170Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.24203682
171Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.23945678

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