| Variant ID | 19314 |
|---|---|
| Entrez Gene ID | 791114 |
| Gene | PWRN1 (GeneCards) |
| Location | hg19 15:24875974-24875974
hg38 15:24630827-24630827 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.24875974 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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3766 |
| CADD Raw score (version 1.3) | -0.156504 (Deleterious) |
| FATHMM raw prediction score | 0.06783 (Tolerated) |
| Deleterious probability by DeFine | 0.1121 (Neutral) |
| Entrez Gene ID | 791114 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PWRN1 (GeneCards) |
| Number of variants in PWRN1 in this database | 3 (view all the variants) |
| Full name | Prader-Willi region non-protein coding RNA 1 |
| Band | 15q11.2 |
| Other IDs | OMIM: 611215 HGNC: HGNC:33235 Ensembl: ENSG00000259905 |
| Other names | NCRNA00198 |
| Summary | This gene is located in the Prader-Willi syndrome (PWS) region of chromosome 15, which is known to undergo imprinting. The transcript is believed to be non-coding. It is bi-allelically expressed in testis and kidney, but mono-allelically expressed from the paternal allele in brain. This gene is poly-adenylated and is known to undergo alternative splicing. Transcript variants may represent part of a complex imprinting center-SNURF-SNRPN transcription unit. The contribution of this gene to the PWS phenotype is unknown, but it has been suggested that it may play a role in establishing paternal imprinting in the PWS region, perhaps by maintaining the paternal allele in an open chromatin configuration. [provided by RefSeq, Sep 2009] |
| 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; |