| Variant ID | 11549 |
|---|---|
| Entrez Gene ID | 813 |
| Gene | CALU (GeneCards) |
| Location | hg19 7:128395966-128395966
hg38 7:128755912-128755912 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.128395966 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1216 |
| CADD Raw score (version 1.3) | 1.514949 (Deleterious) |
| FATHMM raw prediction score | 0.24687 (Tolerated) |
| Deleterious probability by DeFine | 0.0803 (Neutral) |
| Entrez Gene ID | 813 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CALU (GeneCards) |
| Number of variants in CALU in this database | 1 (view all the variants) |
| Full name | calumenin |
| Band | 7q32.1 |
| Other IDs | Vega: OTTHUMG00000158274 OMIM: 603420 HGNC: HGNC:1458 Ensembl: ENSG00000128595 |
| Other names | None |
| Summary | The product of this gene is a calcium-binding protein localized in the endoplasmic reticulum (ER) and it is involved in such ER functions as protein folding and sorting. This protein belongs to a family of multiple EF-hand proteins (CERC) that include reticulocalbin, ERC-55, and Cab45 and the product of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008] |
| Individual ID | 29217584.23 (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; |