| Variant ID | 14917 |
|---|---|
| Entrez Gene ID | 56624 |
| Gene | ASAH2 (GeneCards) |
| Location | hg19 10:52003840-52003840
hg38 10:50244080-50244080 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.52003840 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2669 |
| CADD Raw score (version 1.3) | 1.277317 (Deleterious) |
| FATHMM raw prediction score | 0.52517 (Tolerated) |
| Deleterious probability by DeFine | 0.141 (Neutral) |
| Entrez Gene ID | 56624 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ASAH2 (GeneCards) |
| Number of variants in ASAH2 in this database | 1 (view all the variants) |
| Full name | N-acylsphingosine amidohydrolase 2 |
| Band | 10q11.23 |
| Other IDs | Vega: OTTHUMG00000018223 OMIM: 611202 HGNC: HGNC:18860 Ensembl: ENSG00000188611 |
| Other names | HNAC1, BCDase, LCDase, NCDase, N-CDase |
| Summary | Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 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; |