| Variant ID | 839 |
|---|---|
| Entrez Gene ID | 283848 |
| Gene | CES4A (GeneCards) |
| Location | hg19 16:67040682-67040682
hg38 16:67006779-67006779 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000016.9:g.67040682 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 395 |
| Amino acid changes in protein | L > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4672 |
| CADD Raw score (version 1.3) | 0.527767 (Deleterious) |
| FATHMM raw prediction score | 0.21968 (Tolerated) |
| Deleterious probability by DeFine | 0.8681 (Deleterious) |
| Entrez Gene ID | 283848 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CES4A (GeneCards) |
| Number of variants in CES4A in this database | 1 (view all the variants) |
| Full name | carboxylesterase 4A |
| Band | 16q22.1 |
| Other IDs | Vega: OTTHUMG00000167866 HGNC: HGNC:26741 Ensembl: ENSG00000172824 |
| Other names | CES6, CES8 |
| Summary | This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They also participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene, also called CES6, encodes a secreted enzyme, and may play a role in the detoxification of drugs and xenobiotics in neural and other tissues of the body and in the cerebrospinal fluid. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature and/or biological validity of some variants have not been determined. [provided by RefSeq, Jun 2010] |
| Individual ID | 27788131.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |