| Variant ID | 29859 |
|---|---|
| Entrez Gene ID | 41 |
| Gene | ASIC1 (GeneCards) |
| Location | hg19 12:50471866-50471866
hg38 12:50078083-50078083 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000012.11:g.50471866 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 4168768 |
| Variant occurences in COSMIC | 1(peritoneum) |
| EIGEN score | 0.878 |
| CADD Raw score (version 1.3) | 6.669283 (Deleterious) |
| FATHMM raw prediction score | 0.99048 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.525 (Deleterious) |
| PROVEAN score | -2.53 (Deleterious) |
| MetaSVM score | 0.431 (Deleterious) |
| MetaLR score | 0.576 (Deleterious) |
| MCAP score | 0.208 (Deleterious) |
| FitCons score | 0.615 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.09 |
| PhyloP score based on multiple alignment of 100 vertebrates | 8.067 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.87 |
| Deleterious probability by iFish2 | 0.9997 (Deleterious) |
| Deleterious probability by DeFine | 0.959 (Deleterious) |
| Entrez Gene ID | 41 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ASIC1 (GeneCards) |
| Number of variants in ASIC1 in this database | 2 (view all the variants) |
| Full name | acid sensing ion channel subunit 1 |
| Band | 12q13.12 |
| Other IDs | Vega: OTTHUMG00000169812 OMIM: 602866 HGNC: HGNC:100 Ensembl: ENSG00000110881 |
| Other names | ASIC, ACCN2, BNaC2 |
| Summary | This gene encodes a member of the acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. Members of the ASIC family are sensitive to amiloride and function in neurotransmission. The encoded proteins function in learning, pain transduction, touch sensation, and development of memory and fear. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012] |
| Individual ID | 28867142.15 (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; |