AutismKB 2.0

Annotation Details for HIVEP3


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Basic Information Top
Gene Symbol:HIVEP3 ( FLJ16752,KBP-1,KBP1,KIAA1555,KRC,SHN3,Schnurri-3,ZAS3,ZNF40C )
Gene Full Name: human immunodeficiency virus type I enhancer binding protein 3
Band: 1p34.2
Quick LinksEntrez ID:59269; OMIM: 606649; Uniprot ID:ZEP3_HUMAN; ENSEMBL ID: ENSG00000127124; HGNC ID: 13561
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IBA-nucleus-
GO:0005737IEA-cytoplasm-
GO ID Evidence Qualifier GO_term References
GO:0003700IBA-transcription factor activity, sequence-specific DNA binding-
GO:0043565IBA-sequence-specific DNA binding-
GO:0044212IBA-transcription regulatory region DNA binding-
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0006366IBA-transcription from RNA polymerase II promoter-
GO:0007165IBA-signal transduction-
GO:0007275IBA-multicellular organism development-
GO:0035914IEA-skeletal muscle cell differentiation-
GO:0045893IDA-positive regulation of transcription, DNA-templated15790681
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
HIVEP3TRAF111303711804591 Affinity Capture-Western; Two-hybrid
HIVEP3TRAF112186111804591 Affinity Capture-Western; Two-hybrid
HIVEP3TRAF211303811804591 Affinity Capture-Western; Two-hybrid
HIVEP3TRAF212186111804591 Affinity Capture-Western; Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
No data
Gene Symbol Poly Names Gene overview in PDGene
HIVEP3rs1007221, rs1039997, rs10493099, rs10789403, rs10890156, rs10890161, rs1105414, rs1109255, rs11210520, rs11582555, rs12088923, rs12121981, rs12563071, rs1325502, rs1325505, rs1371805, rs1535505, rs16828739, rs17365632, rs17372813, rs2038978, rs2146315, rs2148636, rs2365571, rs2475839, rs2759253, rs2764833, rs2810585, rs2993120, rs349426, rs349430, rs349439, rs3856255, rs4578215, rs484667, rs525382, rs588203, rs589010, rs600401, rs606850, rs616366, rs621727, rs648178, rs6600382, rs661225, rs6656183, rs6661784, rs6662131, rs6667709, rs6670896, rs6689038, rs6698845, rs6700352, rs702225, rs710229, rs732524, rs7515066, rs7517484, rs7527409, rs7554964, rs765040, rs783309, rs783628, rs942815, rs943374, rs945814 Gene overview in PDGene
No data
Animal Model Top
  • MGI ID: MGI:106589
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018