| Variant ID | 8760 |
|---|---|
| Entrez Gene ID | 23037 |
| Gene | PDZD2 (GeneCards) |
| Location | hg19 5:31998323-31998323
hg38 5:31998217-31998217 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.31998323 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3499 |
| CADD Raw score (version 1.3) | -0.069214 (Deleterious) |
| FATHMM raw prediction score | 0.13828 (Tolerated) |
| Deleterious probability by DeFine | 0.2716 (Neutral) |
| Entrez Gene ID | 23037 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PDZD2 (GeneCards) |
| Number of variants in PDZD2 in this database | 3 (view all the variants) |
| Full name | PDZ domain containing 2 |
| Band | 5p13.3 |
| Other IDs | Vega: OTTHUMG00000161981 OMIM: 610697 HGNC: HGNC:18486 Ensembl: ENSG00000133401 |
| Other names | AIPC, PIN1, PAPIN, PDZK3 |
| Summary | The protein encoded by this gene contains six PDZ domains and shares sequence similarity with pro-interleukin-16 (pro-IL-16). Like pro-IL-16, the encoded protein localizes to the endoplasmic reticulum and is thought to be cleaved by a caspase to produce a secreted peptide containing two PDZ domains. In addition, this gene is upregulated in primary prostate tumors and may be involved in the early stages of prostate tumorigenesis. [provided by RefSeq, Dec 2015] |
| Individual ID | 29217584.21 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male 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; |