| Variant ID | 922 |
|---|---|
| Entrez Gene ID | 3096 |
| Gene | HIVEP1 (GeneCards) |
| Location | hg19 6:12164505-12164505
hg38 6:12164272-12164272 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000006.11:g.12164505 A>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 2656 |
| Amino acid changes in protein | Q > Q |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 1072784 |
| Variant occurences in COSMIC | 1(endometrium) |
| EIGEN score | -0.0146 |
| CADD Raw score (version 1.3) | 0.309104 (Deleterious) |
| FATHMM raw prediction score | 0.20809 (Tolerated) |
| Deleterious probability by DeFine | 0.9054 (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 ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |