| Variant ID | 5788 |
|---|---|
| Entrez Gene ID | 2272 |
| Gene | FHIT (GeneCards) |
| Location | hg19 3:60148795-60148795
hg38 3:60163067-60163067 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.60148795 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1624 |
| CADD Raw score (version 1.3) | 0.023981 (Deleterious) |
| FATHMM raw prediction score | 0.09256 (Tolerated) |
| Deleterious probability by DeFine | 0.3561 (Neutral) |
| Entrez Gene ID | 2272 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FHIT (GeneCards) |
| Number of variants in FHIT in this database | 27 (view all the variants) |
| Full name | fragile histidine triad |
| Band | 3p14.2 |
| Other IDs | Vega: OTTHUMG00000158591 OMIM: 601153 HGNC: HGNC:3701 Ensembl: ENSG00000189283 |
| Other names | FRA3B, AP3Aase |
| Summary | The protein encoded by this gene is a P1-P3-bis(5'-adenosyl) triphosphate hydrolase involved in purine metabolism. This gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. The encoded protein is also a tumor suppressor, as loss of its activity results in replication stress and DNA damage. [provided by RefSeq, Aug 2017] |
| Individual ID | 29217584.19 (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; |