| Variant ID | 29421 |
|---|---|
| Entrez Gene ID | 70 |
| Gene | ACTC1 (GeneCards) |
| Location | hg19 15:35084465-35084465
hg38 15:34792264-34792264 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000015.9:g.35084465 G>A (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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 960883 |
| Variant occurences in COSMIC | 2(haematopoietic_and_lymphoid_tissue)|1(large_intestine)|2(endometrium) |
| EIGEN score | 0.3878 |
| CADD Raw score (version 1.3) | 7.928759 (Deleterious) |
| FATHMM raw prediction score | 0.98331 (Tolerated) |
| LRT score | 0 |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.795 (Deleterious) |
| PROVEAN score | -6.39 (Deleterious) |
| MetaSVM score | 0.981 (Deleterious) |
| MetaLR score | 0.941 (Deleterious) |
| MCAP score | 0.579 (Deleterious) |
| FitCons score | 0.635 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.94 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.755 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.709 |
| Deleterious probability by iFish2 | 0.9871 (Deleterious) |
| Deleterious probability by DeFine | 0.9297 (Deleterious) |
| Entrez Gene ID | 70 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ACTC1 (GeneCards) |
| Number of variants in ACTC1 in this database | 1 (view all the variants) |
| Full name | actin, alpha, cardiac muscle 1 |
| Band | 15q14 |
| Other IDs | Vega: OTTHUMG00000129675 OMIM: 102540 HGNC: HGNC:143 Ensembl: ENSG00000159251 |
| Other names | ACTC, ASD5, CMD1R, CMH11, LVNC4 |
| Summary | Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.97 (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; |