| Variant ID | 29565 |
|---|---|
| Entrez Gene ID | 113146 |
| Gene | AHNAK2 (GeneCards) |
| Location | hg19 14:105416714-105416714
hg38 14:104950377-104950377 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000014.8:g.105416714 C>T (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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0.0002 |
|---|---|
| EIGEN score | -0.3731 |
| CADD Raw score (version 1.3) | 0.926416 (Deleterious) |
| FATHMM raw prediction score | 0.0207 (Tolerated) |
| SIFT score | 0.047 (Deleterious) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.485 (Tolerated) |
| PROVEAN score | -1.38 (Tolerated) |
| MetaSVM score | -0.964 (Tolerated) |
| MetaLR score | 0.007 (Tolerated) |
| MCAP score | 0.012 (Tolerated) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.75 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.193 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 5.286 |
| Deleterious probability by iFish2 | 0.0351 (Neutral) |
| Deleterious probability by DeFine | 0.7093 (Deleterious) |
| Entrez Gene ID | 113146 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AHNAK2 (GeneCards) |
| Number of variants in AHNAK2 in this database | 3 (view all the variants) |
| Full name | AHNAK nucleoprotein 2 |
| Band | 14q32.33 |
| Other IDs | Vega: OTTHUMG00000170765 OMIM: 608570 HGNC: HGNC:20125 Ensembl: ENSG00000185567 |
| Other names | C14orf78 |
| Summary | This gene encodes a large nucleoprotein. The encoded protein has a tripartite domain structure with a relatively short N-terminus and a long C-terminus, separated by a large body of repeats. The N-terminal PSD-95/Discs-large/ZO-1 (PDZ)-like domain is thought to function in the formation of stable homodimers. The encoded protein may play a role in calcium signaling by associating with calcium channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017] |
| Individual ID | 28714951.241 (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; |