| Variant ID | 29306 |
|---|---|
| Entrez Gene ID | 2869 |
| Gene | GRK5 (GeneCards) |
| Location | hg19 10:121212266-121212266
hg38 10:119452754-119452754 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000010.10:g.121212266 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | Exon |
|---|---|
| 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) | 0.0002 |
|---|---|
| Variant IDs in COSMIC (version 89) | 4012076 |
| Variant occurences in COSMIC | 1(stomach)|1(large_intestine) |
| CADD Raw score (version 1.3) | 1.769692 (Deleterious) |
| FATHMM raw prediction score | 0.25814 (Tolerated) |
| Deleterious probability by DeFine | 0.8934 (Deleterious) |
| Entrez Gene ID | 2869 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GRK5 (GeneCards) |
| Number of variants in GRK5 in this database | 4 (view all the variants) |
| Full name | G protein-coupled receptor kinase 5 |
| Band | 10q26.11 |
| Other IDs | Vega: OTTHUMG00000019149 OMIM: 600870 HGNC: HGNC:4544 Ensembl: ENSG00000198873 |
| Other names | GPRK5 |
| Summary | This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating their deactivation. It has also been shown to play a role in regulating the motility of polymorphonuclear leukocytes (PMNs). [provided by RefSeq, Jul 2008] |
| Individual ID | 28503910.183 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |