| Variant ID | 5947 |
|---|---|
| Entrez Gene ID | 10015 |
| Gene | PDCD6IP (GeneCards) |
| Location | hg19 3:34723865-34723865
hg38 3:34682373-34682373 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.34723865 C>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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.007 |
| CADD Raw score (version 1.3) | 1.078475 (Deleterious) |
| FATHMM raw prediction score | 0.29549 (Tolerated) |
| Deleterious probability by DeFine | 0.0636 (Neutral) |
| Entrez Gene ID | 10015 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PDCD6IP (GeneCards) |
| Number of variants in PDCD6IP in this database | 9 (view all the variants) |
| Full name | programmed cell death 6 interacting protein |
| Band | 3p22.3 |
| Other IDs | Vega: OTTHUMG00000130751 OMIM: 608074 HGNC: HGNC:8766 Ensembl: ENSG00000170248 |
| Other names | AIP1, ALIX, HP95, DRIP4 |
| Summary | This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012] |
| Individual ID | 29217584.24 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |