| Variant ID | 22343 |
|---|---|
| Entrez Gene ID | 5456 |
| Gene | POU3F4 (GeneCards) |
| Location | hg19 X:82892897-82892897
hg38 X:83637889-83637889 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.82892897 T>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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 0.569311 (Deleterious) |
| FATHMM raw prediction score | 0.09022 (Tolerated) |
| Deleterious probability by DeFine | 0.1015 (Neutral) |
| Entrez Gene ID | 5456 (NCBI Gene) |
|---|---|
| Official Gene Symbol | POU3F4 (GeneCards) |
| Number of variants in POU3F4 in this database | 4 (view all the variants) |
| Full name | POU class 3 homeobox 4 |
| Band | Xq21.1 |
| Other IDs | Vega: OTTHUMG00000021919 OMIM: 300039 HGNC: HGNC:9217 Ensembl: ENSG00000196767 |
| Other names | BRN4, DFN3, OTF9, BRN-4, DFNX2, OCT-9, OTF-9, BRAIN-4 |
| Summary | This gene encodes a member of the POU-III class of neural transcription factors. This family member plays a role in inner ear development. The protein is thought to be involved in the mediation of epigenetic signals which induce striatal neuron-precursor differentiation. Mutations in this gene are associated with X chromosome-linked nonsyndromic mixed deafness. [provided by RefSeq, Dec 2012] |
| Individual ID | 29217584.22 (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; |