| Variant ID | 16038 |
|---|---|
| Entrez Gene ID | 2113 |
| Gene | ETS1 (GeneCards) |
| Location | hg19 11:128355101-128355101
hg38 11:128485206-128485206 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.128355101 C>G (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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 0.07333 (Deleterious) |
| FATHMM raw prediction score | 0.20058 (Tolerated) |
| Deleterious probability by DeFine | 0.4674 (Neutral) |
| Entrez Gene ID | 2113 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ETS1 (GeneCards) |
| Number of variants in ETS1 in this database | 4 (view all the variants) |
| Full name | ETS proto-oncogene 1, transcription factor |
| Band | 11q24.3 |
| Other IDs | Vega: OTTHUMG00000165799 OMIM: 164720 HGNC: HGNC:3488 Ensembl: ENSG00000134954 |
| Other names | p54, ETS-1, EWSR2, c-ets-1 |
| Summary | This gene encodes a member of the ETS family of transcription factors, which are defined by the presence of a conserved ETS DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T in target genes. These proteins function either as transcriptional activators or repressors of numerous genes, and are involved in stem cell development, cell senescence and death, and tumorigenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] |
| Individual ID | 29217584.24 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |