| Variant ID | 4526 |
|---|---|
| Entrez Gene ID | 29789 |
| Gene | OLA1 (GeneCards) |
| Location | hg19 2:175052708-175052708
hg38 2:174187980-174187980 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.175052708 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2956 |
| CADD Raw score (version 1.3) | 1.55931 (Deleterious) |
| FATHMM raw prediction score | 0.57502 (Tolerated) |
| Deleterious probability by DeFine | 0.1745 (Neutral) |
| Entrez Gene ID | 29789 (NCBI Gene) |
|---|---|
| Official Gene Symbol | OLA1 (GeneCards) |
| Number of variants in OLA1 in this database | 8 (view all the variants) |
| Full name | Obg like ATPase 1 |
| Band | 2q31.1 |
| Other IDs | Vega: OTTHUMG00000132335 OMIM: 611175 HGNC: HGNC:28833 Ensembl: ENSG00000138430 |
| Other names | DOC45, GBP45, GTBP9, GTPBP9, PTD004 |
| Summary | This gene encodes a member of the GTPase protein family. The encoded protein interacts with breast cancer-associated gene 1 (BRCA1) and BRCA1-associated RING domain protein (BARD1), and is involved in centrosome regulation. Overexpression of this gene has been observed in multiple types of cancer and may be associated with poor survival. Pseudogenes of this gene have been defined on chromosomes 17 and 22. [provided by RefSeq, Jun 2016] |
| 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; |