| Variant ID | 24744 |
|---|---|
| Entrez Gene ID | 64002 |
| Gene | PCGEM1 (GeneCards) |
| Location | hg19 2:195169372-195169372
hg38 2:194304648-194304648 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000002.11:g.195169372 G>A (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 | -0.096 |
| CADD Raw score (version 1.3) | 0.245785 (Deleterious) |
| FATHMM raw prediction score | 0.08682 (Tolerated) |
| Deleterious probability by DeFine | 0.4147 (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 | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |