| Variant ID | 19315 |
|---|---|
| Entrez Gene ID | 3175 |
| Gene | ONECUT1 (GeneCards) |
| Location | hg19 15:53783761-53783761
hg38 15:53491564-53491564 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.53783761 G>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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1305 |
| CADD Raw score (version 1.3) | 0.07276 (Deleterious) |
| FATHMM raw prediction score | 0.17554 (Tolerated) |
| Deleterious probability by DeFine | 0.4743 (Neutral) |
| Entrez Gene ID | 3175 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ONECUT1 (GeneCards) |
| Number of variants in ONECUT1 in this database | 10 (view all the variants) |
| Full name | one cut homeobox 1 |
| Band | 15q21.3 |
| Other IDs | Vega: OTTHUMG00000131899 OMIM: 604164 HGNC: HGNC:8138 Ensembl: ENSG00000169856 |
| Other names | HNF6, HNF-6, HNF6A |
| Summary | This gene encodes a member of the Cut homeobox family of transcription factors. Expression of the encoded protein is enriched in the liver, where it stimulates transcription of liver-expressed genes, and antagonizes glucocorticoid-stimulated gene transcription. This gene may influence a variety of cellular processes including glucose metabolism, cell cycle regulation, and it may also be associated with cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] |
| Individual ID | 29217584.23 (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; |