| Variant ID | 14703 |
|---|---|
| Entrez Gene ID | 8644 |
| Gene | AKR1C3 (GeneCards) |
| Location | hg19 10:5138713-5138713
hg38 10:5096521-5096521 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.5138713 C>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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 3686771 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | -0.4871 |
| CADD Raw score (version 1.3) | 6.057976 (Deleterious) |
| FATHMM raw prediction score | 0.12741 (Tolerated) |
| LRT score | 0.056 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.66 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -1.94 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.501 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 0.832 |
| Deleterious probability by DeFine | 0.3227 (Neutral) |
| Entrez Gene ID | 8644 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AKR1C3 (GeneCards) |
| Number of variants in AKR1C3 in this database | 3 (view all the variants) |
| Full name | aldo-keto reductase family 1 member C3 |
| Band | 10p15.1 |
| Other IDs | Vega: OTTHUMG00000017585 OMIM: 603966 HGNC: HGNC:386 Ensembl: ENSG00000196139 |
| Other names | DD3, DDX, PGFS, HAKRB, HAKRe, HA1753, HSD17B5, hlPGFS |
| Summary | This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ), and the oxidation of 9alpha,11beta-PGF2 to PGD2. It may play an important role in the pathogenesis of allergic diseases such as asthma, and may also have a role in controlling cell growth and/or differentiation. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 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; |