| Variant ID | 10158 |
|---|---|
| Entrez Gene ID | 3298 |
| Gene | HSF2 (GeneCards) |
| Location | hg19 6:122720764-122720764
hg38 6:122399619-122399619 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.122720764 G>A (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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.7446 |
| CADD Raw score (version 1.3) | 1.786312 (Deleterious) |
| FATHMM raw prediction score | 0.99557 (Tolerated) |
| Deleterious probability by DeFine | 0.9716 (Deleterious) |
| Entrez Gene ID | 3298 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HSF2 (GeneCards) |
| Number of variants in HSF2 in this database | 1 (view all the variants) |
| Full name | heat shock transcription factor 2 |
| Band | 6q22.31 |
| Other IDs | Vega: OTTHUMG00000016216 OMIM: 140581 HGNC: HGNC:5225 Ensembl: ENSG00000025156 |
| Other names | HSF2, HSTF2 |
| Summary | The protein encoded by this gene belongs to the HSF family of transcription factors that bind specifically to the heat-shock promoter element and activate transcription. Heat shock transcription factors activate heat-shock response genes under conditions of heat or other stresses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female 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; |