Entrez Gene ID | 100048912 |
---|---|
Official Gene Symbol | CDKN2B-AS1 (GeneCards) |
Full name | CDKN2B antisense RNA 1 |
Location | 9p21.3 |
Other ids | MIM : 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] |
Found 9 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
12917 | 100048912 | CDKN2B-AS1 | 9 | 22096029 | 22096029 | Asymptomatic | HiSeq X Ten |
13082 | 100048912 | CDKN2B-AS1 | 9 | 22147953 | 22147953 | Asymptomatic | HiSeq X Ten |
13083 | 100048912 | CDKN2B-AS1 | 9 | 22397635 | 22397635 | Asymptomatic | HiSeq X Ten |
13526 | 100048912 | CDKN2B-AS1 | 9 | 22382176 | 22382176 | Asymptomatic | HiSeq X Ten |
13631 | 100048912 | CDKN2B-AS1 | 9 | 22420956 | 22420956 | Cockayne syndrome | HiSeq X Ten |
13787 | 100048912 | CDKN2B-AS1 | 9 | 22011983 | 22011983 | Xeroderma Pigmentosum | HiSeq X Ten |
13796 | 100048912 | CDKN2B-AS1 | 9 | 22424424 | 22424424 | Xeroderma Pigmentosum | HiSeq X Ten |
26897 | 100048912 | CDKN2B-AS1 | 9 | 22156628 | 22156628 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
26955 | 100048912 | CDKN2B-AS1 | 9 | 22134124 | 22134124 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |