| Variant ID | 18697 |
|---|---|
| Entrez Gene ID | 100529063 |
| Gene | BCL2L2-PABPN1 (GeneCards) |
| Location | hg19 14:23813213-23813213
hg38 14:23344004-23344004 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.23813213 C>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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.156 |
| CADD Raw score (version 1.3) | 0.414367 (Deleterious) |
| FATHMM raw prediction score | 0.15811 (Tolerated) |
| Deleterious probability by DeFine | 0.0559 (Neutral) |
| Entrez Gene ID | 100529063 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BCL2L2-PABPN1 (GeneCards) |
| Number of variants in BCL2L2-PABPN1 in this database | 2 (view all the variants) |
| Full name | BCL2L2-PABPN1 readthrough |
| Band | 14q11.2 |
| Other IDs | Vega: OTTHUMG00000171498 HGNC: HGNC:42959 Ensembl: ENSG00000258643 |
| Other names | None |
| Summary | This locus represents naturally occurring read-through transcription between the neighboring BCL2L2 (BCL2-like 2) and PABPN1 (poly(A) binding protein, nuclear 1) genes on chromosome 14. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010] |
| 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; |