| Variant ID | 29290 |
|---|---|
| Entrez Gene ID | 23457 |
| Gene | ABCB9 (GeneCards) |
| Location | hg19 12:123414608-123414608
hg38 12:122930061-122930061 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000012.11:g.123414608 G>A (Genome Assembly: GRCh37) |
| 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) | 0.00003232 |
|---|---|
| Variant IDs in COSMIC (version 89) | 4651130 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | 0.7156 |
| CADD Raw score (version 1.3) | 1.625228 (Deleterious) |
| FATHMM raw prediction score | 0.90507 (Tolerated) |
| Deleterious probability by DeFine | 0.8419 (Deleterious) |
| Entrez Gene ID | 23457 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ABCB9 (GeneCards) |
| Number of variants in ABCB9 in this database | 1 (view all the variants) |
| Full name | ATP binding cassette subfamily B member 9 |
| Band | 12q24.31 |
| Other IDs | Vega: OTTHUMG00000168769 OMIM: 605453 HGNC: HGNC:50 Ensembl: ENSG00000150967 |
| Other names | TAPL, EST122234 |
| 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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This family member functions in the translocation of peptides from the cytosol into the lysosomal lumen. Alternative splicing of this gene results in distinct isoforms which are likely to have different substrate specificities. [provided by RefSeq, Jul 2011] |
| Individual ID | 28503910.167 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |