| Variant ID | 29992 |
|---|---|
| Entrez Gene ID | 79317 |
| Gene | OR4K5 (GeneCards) |
| Location | hg19 14:20389721-20389721
hg38 14:19921562-19921562 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000014.8:g.20389721 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 319 |
| Amino acid changes in protein | R > K |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_001005483 |
| mRNA length | NA |
| Reference length | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0.0624 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs17242341 |
| Variant IDs in COSMIC (version 89) | 3999189 |
| Variant occurences in COSMIC | 3(haematopoietic_and_lymphoid_tissue)|1(large_intestine) |
| EIGEN score | -0.4613 |
| CADD Raw score (version 1.3) | -0.133377 (Deleterious) |
| FATHMM raw prediction score | 0.14202 (Tolerated) |
| SIFT score | 0.104 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 |
| MutatioinAssessor score | 0.625 (Tolerated) |
| PROVEAN score | -0.18 (Tolerated) |
| MetaSVM score | -0.982 (Tolerated) |
| MetaLR score | 0 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.86 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.725 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.001 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.991 |
| Deleterious probability by iFish2 | 0.1518 (Neutral) |
| Deleterious probability by DeFine | 0.6673 (Deleterious) |
| Entrez Gene ID | 79317 (NCBI Gene) |
|---|---|
| Official Gene Symbol | OR4K5 (GeneCards) |
| Number of variants in OR4K5 in this database | 1 (view all the variants) |
| Full name | olfactory receptor family 4 subfamily K member 5 |
| Band | 14q11.2 |
| Other IDs | Vega: OTTHUMG00000170627 HGNC: HGNC:14745 Ensembl: ENSG00000176281 |
| Other names | OR14-16 |
| Summary | Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008] |
| Individual ID | 28503910.216 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Father |
| Phenotype | 2 |
| Number of affected children | 1 |
| 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; |