| Variant ID | 4273 |
|---|---|
| Entrez Gene ID | 64002 |
| Gene | PCGEM1 (GeneCards) |
| Location | hg19 2:193845631-193845631
hg38 2:192980905-192980905 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.193845631 A>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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0006 |
| CADD Raw score (version 1.3) | 0.119933 (Deleterious) |
| FATHMM raw prediction score | 0.11876 (Tolerated) |
| Deleterious probability by DeFine | 0.4566 (Neutral) |
| Entrez Gene ID | 64002 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PCGEM1 (GeneCards) |
| Number of variants in PCGEM1 in this database | 18 (view all the variants) |
| Full name | PCGEM1, prostate-specific transcript |
| Band | 2q32.3 |
| Other IDs | OMIM: 605443 HGNC: HGNC:30145 Ensembl: ENSG00000227418 |
| Other names | PCAT9, LINC00071, NCRNA00071 |
| Summary | This gene produces a long non-coding RNA that is overexpressed in prostate cancer and may act a marker for tumor progression. This RNA may act a negative regulator of apoptosis, and may promote activity of androgen receptor and Myc. [provided by RefSeq, Dec 2017] |
| 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; |