| Variant ID | 10388 |
|---|---|
| Entrez Gene ID | 11281 |
| Gene | POU6F2 (GeneCards) |
| Location | hg19 7:39318999-39318999
hg38 7:39279400-39279400 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.39318999 T>C (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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.6042 |
| CADD Raw score (version 1.3) | -0.511281 (Deleterious) |
| FATHMM raw prediction score | 0.06368 (Tolerated) |
| Deleterious probability by DeFine | 0.5511 (Deleterious) |
| Entrez Gene ID | 11281 (NCBI Gene) |
|---|---|
| Official Gene Symbol | POU6F2 (GeneCards) |
| Number of variants in POU6F2 in this database | 11 (view all the variants) |
| Full name | POU class 6 homeobox 2 |
| Band | 7p14.1 |
| Other IDs | Vega: OTTHUMG00000150803 OMIM: 609062 HGNC: HGNC:21694 Ensembl: ENSG00000106536 |
| Other names | WT5, WTSL, RPF-1 |
| Summary | This gene encodes a member of the POU protein family characterized by the presence of a bipartite DNA binding domain, consisting of a POU-specific domain and a homeodomain, separated by a variable polylinker. The DNA binding domain may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner. The POU family members are transcriptional regulators, many of which are known to control cell type-specific differentiation pathways. This gene is a tumor suppressor involved in Wilms tumor (WT) predisposition. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Oct 2009] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |