Overview

Variant ID 9389
Entrez Gene ID 3096
Gene HIVEP1 (GeneCards)
Location hg19 6:12277676-12277676
hg38 6:12277443-12277443
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000006.11:g.12277676 C>T (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 171115067

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 0.1385
CADD Raw score (version 1.3) 0.248045 (Deleterious)
FATHMM raw prediction score 0.21959 (Tolerated)
Deleterious probability by DeFine 0.5653 (Deleterious)
Entrez Gene ID 3096 (NCBI Gene)
Official Gene Symbol HIVEP1 (GeneCards)
Number of variants in HIVEP1 in this database 6 (view all the variants)
Full name human immunodeficiency virus type I enhancer binding protein 1
Band 6p24.1
Other IDs Vega: OTTHUMG00000014265
OMIM: 194540
HGNC: HGNC:4920
Ensembl: ENSG00000095951
Other names GAAP, ZAS1, CIRIP, MBP-1, ZNF40, CRYBP1, ZNF40A, PRDII-BF1, Schnrri-1
Summary This gene encodes a transcription factor belonging to the ZAS family, members of which are large proteins that contain a ZAS domain - a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine-rich sequence. These proteins bind specifically to the DNA sequence motif, GGGACTTTCC, found in the enhancer elements of several viral promoters, including human immunodeficiency virus (HIV), and to related sequences found in the enhancer elements of a number of cellular promoters. This protein binds to this sequence motif, suggesting a role in the transcriptional regulation of both viral and cellular genes. [provided by RefSeq, Oct 2011]

Individual #1

Individual ID 29217584.09 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217584

Pubmed ID 29217584
Title Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal Science
Publication date 2018.02
Disease Cockayne syndrome Xeroderma Pigmentosum
Number of cases Male cases: 3; Female cases: 6; cases of unknown sex: 15;