| Variant ID | 13631 |
|---|---|
| Entrez Gene ID | 100048912 |
| Gene | CDKN2B-AS1 (GeneCards) |
| Location | hg19 9:22420956-22420956
hg38 9:22420957-22420957 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.22420956 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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5973 |
| CADD Raw score (version 1.3) | -0.492562 (Deleterious) |
| FATHMM raw prediction score | 0.04434 (Tolerated) |
| Deleterious probability by DeFine | 0.5423 (Deleterious) |
| Entrez Gene ID | 100048912 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CDKN2B-AS1 (GeneCards) |
| Number of variants in CDKN2B-AS1 in this database | 9 (view all the variants) |
| Full name | CDKN2B antisense RNA 1 |
| Band | 9p21.3 |
| Other IDs | OMIM: 613149 HGNC: HGNC:34341 Ensembl: ENSG00000240498 |
| Other names | ANRIL, p15AS, PCAT12, CDKN2BAS, CDKN2B-AS, NCRNA00089 |
| Summary | This gene is located within the CDKN2B-CDKN2A gene cluster at chromosome 9p21. The gene product is a functional RNA molecule that interacts with polycomb repressive complex-1 (PRC1) and -2 (PRC2), leading to epigenetic silencing of other genes in this cluster. This region is a significant genetic susceptibility locus for cardiovascular disease, and has also been linked to a number of other pathologies, including several cancers, intracranial aneurysm, type-2 diabetes, periodontitis, Alzheimer's disease, endometriosis, frailty in the elderly, and glaucoma. Multiple alternatively processed transcript variants have been detected, some of which may take the form of circular RNA molecules (PMID:21151960). [provided by RefSeq, May 2014] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |