| Variant ID | 11827 |
|---|---|
| Entrez Gene ID | 26986 |
| Gene | PABPC1 (GeneCards) |
| Location | hg19 8:101871934-101871934
hg38 8:100859706-100859706 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.101871934 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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2723 |
| CADD Raw score (version 1.3) | -0.117707 (Deleterious) |
| FATHMM raw prediction score | 0.10215 (Tolerated) |
| Deleterious probability by DeFine | 0.3437 (Neutral) |
| Entrez Gene ID | 26986 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PABPC1 (GeneCards) |
| Number of variants in PABPC1 in this database | 2 (view all the variants) |
| Full name | poly(A) binding protein cytoplasmic 1 |
| Band | 8q22.3 |
| Other IDs | Vega: OTTHUMG00000164779 OMIM: 604679 HGNC: HGNC:8554 Ensembl: ENSG00000070756 |
| Other names | PAB1, PABP, PABP1, PABPC2, PABPL1 |
| Summary | This gene encodes a poly(A) binding protein. The protein shuttles between the nucleus and cytoplasm and binds to the 3' poly(A) tail of eukaryotic messenger RNAs via RNA-recognition motifs. The binding of this protein to poly(A) promotes ribosome recruitment and translation initiation; it is also required for poly(A) shortening which is the first step in mRNA decay. The gene is part of a small gene family including three protein-coding genes and several pseudogenes.[provided by RefSeq, Aug 2010] |
| Individual ID | 29217584.06 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |