| Variant ID | 29875 |
|---|---|
| Entrez Gene ID | 9472 |
| Gene | AKAP6 (GeneCards) |
| Location | hg19 14:33201692-33201692
hg38 14:32732486-32732486 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000014.8:g.33201692 G>A (Genome Assembly: hg19) |
| 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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.3745 |
| CADD Raw score (version 1.3) | 0.524867 (Deleterious) |
| FATHMM raw prediction score | 0.96306 (Tolerated) |
| Deleterious probability by DeFine | 0.9042 (Deleterious) |
| Entrez Gene ID | 9472 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AKAP6 (GeneCards) |
| Number of variants in AKAP6 in this database | 7 (view all the variants) |
| Full name | A-kinase anchoring protein 6 |
| Band | 14q12 |
| Other IDs | Vega: OTTHUMG00000140207 OMIM: 604691 HGNC: HGNC:376 Ensembl: ENSG00000151320 |
| Other names | ADAP6, PRKA6, mAKAP, ADAP100, AKAP100 |
| Summary | The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |