| Variant ID | 29465 |
|---|---|
| Entrez Gene ID | 3777 |
| Gene | KCNK3 (GeneCards) |
| Location | hg19 2:26950618-26950618
hg38 2:26727750-26727750 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000002.11:g.26950618 G>C (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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6044 |
| CADD Raw score (version 1.3) | 4.552246 (Deleterious) |
| FATHMM raw prediction score | 0.91891 (Tolerated) |
| SIFT score | 0.003 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.01 (Tolerated) |
| PROVEAN score | -2.9 (Deleterious) |
| MetaSVM score | -1.084 (Tolerated) |
| MetaLR score | 0.081 (Tolerated) |
| MCAP score | 0.021 (Tolerated) |
| FitCons score | 0.517 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.27 |
| PhyloP score based on multiple alignment of 100 vertebrates | 8.114 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.739 |
| Deleterious probability by iFish2 | 0.5125 (Deleterious) |
| Deleterious probability by DeFine | 0.9649 (Deleterious) |
| Entrez Gene ID | 3777 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KCNK3 (GeneCards) |
| Number of variants in KCNK3 in this database | 1 (view all the variants) |
| Full name | potassium two pore domain channel subfamily K member 3 |
| Band | 2p23.3 |
| Other IDs | Vega: OTTHUMG00000125530 OMIM: 603220 HGNC: HGNC:6278 Ensembl: ENSG00000171303 |
| Other names | OAT1, PPH4, TASK, TBAK1, K2p3.1, TASK-1 |
| Summary | This gene encodes a member of the superfamily of potassium channel proteins that contain two pore-forming P domains. The encoded protein is an outwardly rectifying channel that is sensitive to changes in extracellular pH and is inhibited by extracellular acidification. Also referred to as an acid-sensitive potassium channel, it is activated by the anesthetics halothane and isoflurane. Although three transcripts are detected in northern blots, there is currently no sequence available to confirm transcript variants for this gene. [provided by RefSeq, Aug 2008] |
| Individual ID | 28714951.141 (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; |