| Variant ID | 14915 |
|---|---|
| Entrez Gene ID | 80013 |
| Gene | FAM188A (GeneCards) |
| Location | hg19 10:16363618-16363618
hg38 10:16321619-16321619 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.16363618 T>C (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 | -0.1308 |
| CADD Raw score (version 1.3) | 0.164287 (Deleterious) |
| FATHMM raw prediction score | 0.06919 (Tolerated) |
| Deleterious probability by DeFine | 0.3863 (Neutral) |
| Entrez Gene ID | 80013 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FAM188A (GeneCards) |
| Number of variants in MINDY3 in this database | 15 (view all the variants) |
| Full name | MINDY lysine 48 deubiquitinase 3 |
| Band | 10p13 |
| Other IDs | Vega: OTTHUMG00000017734 OMIM: 611649 HGNC: HGNC:23578 Ensembl: ENSG00000148481 |
| Other names | CARP, DERP5, my042, MST126, FAM188A, MSTP126, C10orf97 |
| Summary | The protein encoded by this gene contains a caspase-associated recruitment domain and may function in apoptosis. It has been identified as a tumor suppressor in lung and gastric cancers, and a polymorphism in the gene may be associated with gastric cancer risk. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015] |
| 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; |