| Variant ID | 13792 |
|---|---|
| Entrez Gene ID | 1902 |
| Gene | LPAR1 (GeneCards) |
| Location | hg19 9:113848026-113848026
hg38 9:111085746-111085746 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.113848026 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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2175 |
| CADD Raw score (version 1.3) | 0.190328 (Deleterious) |
| FATHMM raw prediction score | 0.11354 (Tolerated) |
| Deleterious probability by DeFine | 0.0422 (Neutral) |
| Entrez Gene ID | 1902 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LPAR1 (GeneCards) |
| Number of variants in LPAR1 in this database | 5 (view all the variants) |
| Full name | lysophosphatidic acid receptor 1 |
| Band | 9q31.3 |
| Other IDs | Vega: OTTHUMG00000020486 OMIM: 602282 HGNC: HGNC:3166 Ensembl: ENSG00000198121 |
| Other names | EDG2, LPA1, VZG1, GPR26, edg-2, vzg-1, Gpcr26, Mrec1.3, rec.1.3 |
| Summary | The integral membrane protein encoded by this gene is a lysophosphatidic acid (LPA) receptor from a group known as EDG receptors. These receptors are members of the G protein-coupled receptor superfamily. Utilized by LPA for cell signaling, EDG receptors mediate diverse biologic functions, including proliferation, platelet aggregation, smooth muscle contraction, inhibition of neuroblastoma cell differentiation, chemotaxis, and tumor cell invasion. Two transcript variants encoding the same protein have been identified for this gene [provided by RefSeq, Jul 2008] |
| 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; |