| Variant ID | 29632 |
|---|---|
| Entrez Gene ID | 27198 |
| Gene | HCAR1 (GeneCards) |
| Location | hg19 12:123214180-123214180
hg38 12:122729633-122729633 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000012.11:g.123214180 C>T (Genome Assembly: hg19) |
| 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.553 |
| CADD Raw score (version 1.3) | 4.972329 (Deleterious) |
| FATHMM raw prediction score | 0.74332 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.983 (Deleterious) |
| MutatioinAssessor score | 3.435 (Deleterious) |
| PROVEAN score | -2.6 (Deleterious) |
| MetaSVM score | -0.01 (Tolerated) |
| MetaLR score | 0.472 (Tolerated) |
| MCAP score | 0.033 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.33 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.996 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.521 |
| Deleterious probability by iFish2 | 0.8372 (Deleterious) |
| Deleterious probability by DeFine | 0.9241 (Deleterious) |
| Entrez Gene ID | 27198 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HCAR1 (GeneCards) |
| Number of variants in HCAR1 in this database | 1 (view all the variants) |
| Full name | hydroxycarboxylic acid receptor 1 |
| Band | 12q24.31 |
| Other IDs | Vega: OTTHUMG00000168863 OMIM: 606923 HGNC: HGNC:4532 Ensembl: ENSG00000196917 |
| Other names | HCA1, GPR81, LACR1, FKSG80, GPR104, TAGPCR, TA-GPCR |
| Summary | G protein-coupled receptors (GPCRs, or GPRs), such as GPR81, contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM, Feb 2005] |
| Individual ID | 28714951.308 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |