| Variant ID | 29587 |
|---|---|
| Entrez Gene ID | 20 |
| Gene | ABCA2 (GeneCards) |
| Location | hg19 9:139917312-139917312
hg38 9:137022860-137022860 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000009.11:g.139917312 G>C (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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3937 |
| CADD Raw score (version 1.3) | 5.964422 (Deleterious) |
| FATHMM raw prediction score | 0.91807 (Tolerated) |
| SIFT score | 0.03 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.1 (Tolerated) |
| PROVEAN score | -0.67 (Tolerated) |
| MetaSVM score | 0.237 (Deleterious) |
| MetaLR score | 0.658 (Deleterious) |
| MCAP score | 0.583 (Deleterious) |
| FitCons score | 0.646 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.25 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.039 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.234 |
| Deleterious probability by iFish2 | 0.7908 (Deleterious) |
| Deleterious probability by DeFine | 0.9635 (Deleterious) |
| Entrez Gene ID | 20 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ABCA2 (GeneCards) |
| Number of variants in ABCA2 in this database | 2 (view all the variants) |
| Full name | ATP binding cassette subfamily A member 2 |
| Band | 9q34.3 |
| Other IDs | Vega: OTTHUMG00000020958 OMIM: 600047 HGNC: HGNC:32 Ensembl: ENSG00000107331 |
| Other names | ABC2 |
| Summary | The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.263 (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; |