| Variant ID | 2750 |
|---|---|
| Entrez Gene ID | 59269 |
| Gene | HIVEP3 (GeneCards) |
| Location | hg19 1:42363178-42363178
hg38 1:41897507-41897507 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.42363178 C>T (Genome Assembly: GRCh37) |
| 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2819 |
| CADD Raw score (version 1.3) | 0.201396 (Deleterious) |
| FATHMM raw prediction score | 0.07168 (Tolerated) |
| Deleterious probability by DeFine | 0.2097 (Neutral) |
| Entrez Gene ID | 59269 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HIVEP3 (GeneCards) |
| Number of variants in HIVEP3 in this database | 3 (view all the variants) |
| Full name | human immunodeficiency virus type I enhancer binding protein 3 |
| Band | 1p34.2 |
| Other IDs | Vega: OTTHUMG00000006361 OMIM: 606649 HGNC: HGNC:13561 Ensembl: ENSG00000127124 |
| Other names | KRC, KBP1, SHN3, ZAS3, KBP-1, ZNF40C, Schnrri-3 |
| Summary | This gene encodes a member of the human immunodeficiency virus type 1 enhancer-binding protein family. Members of this protein family contain multiple zinc finger and acid-rich (ZAS) domains and serine-threonine rich regions. This protein acts as a transcription factor and is able to regulate nuclear factor kappaB-mediated transcription by binding the kappaB motif in target genes. This protein also binds the recombination signal sequence that flanks the V, D, and J regions of immunoglobulin and T-cell receptors. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Sep 2011] |
| Individual ID | 29217584.21 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |