| Variant ID | 15801 |
|---|---|
| Entrez Gene ID | 8301 |
| Gene | PICALM (GeneCards) |
| Location | hg19 11:85759656-85759656
hg38 11:86048614-86048614 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.85759656 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2852 |
| CADD Raw score (version 1.3) | -0.108855 (Deleterious) |
| FATHMM raw prediction score | 0.06064 (Tolerated) |
| Deleterious probability by DeFine | 0.2119 (Neutral) |
| Entrez Gene ID | 8301 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PICALM (GeneCards) |
| Number of variants in PICALM in this database | 5 (view all the variants) |
| Full name | phosphatidylinositol binding clathrin assembly protein |
| Band | 11q14.2 |
| Other IDs | Vega: OTTHUMG00000166981 OMIM: 603025 HGNC: HGNC:15514 Ensembl: ENSG00000073921 |
| Other names | LAP, CALM, CLTH |
| Summary | This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] |
| 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; |