| Variant ID | 30001 |
|---|---|
| Entrez Gene ID | 23416 |
| Gene | KCNH3 (GeneCards) |
| Location | hg19 12:49937116-49937116
hg38 12:49543333-49543333 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000012.11:g.49937116 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 213 |
| Amino acid changes in protein | S > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_012284 |
| mRNA length | NA |
| Reference length | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003233 |
|---|---|
| EIGEN score | 0.6428 |
| CADD Raw score (version 1.3) | 6.892594 (Deleterious) |
| FATHMM raw prediction score | 0.90532 (Tolerated) |
| SIFT score | 0.004 (Deleterious) |
| LRT score | 0.002 (Tolerated) |
| MutationTaster score | 0.975 (Deleterious) |
| MutatioinAssessor score | 2.86 (Deleterious) |
| PROVEAN score | -5.35 (Deleterious) |
| MetaSVM score | 1.087 (Deleterious) |
| MetaLR score | 0.944 (Deleterious) |
| MCAP score | 0.182 (Deleterious) |
| FitCons score | 0.598 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.56 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.089 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.239 |
| Deleterious probability by iFish2 | 0.2575 (Neutral) |
| Deleterious probability by DeFine | 0.9625 (Deleterious) |
| Entrez Gene ID | 23416 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KCNH3 (GeneCards) |
| Number of variants in KCNH3 in this database | 1 (view all the variants) |
| Full name | potassium voltage-gated channel subfamily H member 3 |
| Band | 12q13.12 |
| Other IDs | Vega: OTTHUMG00000169517 OMIM: 604527 HGNC: HGNC:6252 Ensembl: ENSG00000135519 |
| Other names | BEC1, ELK2, Kv12.2 |
| Summary | The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. Studies in mice have found that cognitive function increases when this gene is knocked out. In humans, the encoded protein has been shown to be capable of binding glycoprotein 120 of the human immunodeficiency virus type 1 (HIV-1) envelope. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015] |
| Individual ID | 28503910.225 (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; |