| Variant ID | 29989 |
|---|---|
| Entrez Gene ID | 8647 |
| Gene | ABCB11 (GeneCards) |
| Location | hg19 2:169853212-169853212
hg38 2:168996702-168996702 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000002.11:g.169853212 T>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 137 |
| Amino acid changes in protein | E > A |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_003742 |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4198 |
| CADD Raw score (version 1.3) | 4.091438 (Deleterious) |
| FATHMM raw prediction score | 0.98367 (Tolerated) |
| SIFT score | 0.004 (Deleterious) |
| LRT score | 0.287 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.355 (Deleterious) |
| PROVEAN score | -3.52 (Deleterious) |
| MetaSVM score | 0.357 (Deleterious) |
| MetaLR score | 0.706 (Deleterious) |
| MCAP score | 0.191 (Deleterious) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.98 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.495 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.215 |
| Deleterious probability by iFish2 | 0.9947 (Deleterious) |
| Deleterious probability by DeFine | 0.9264 (Deleterious) |
| Entrez Gene ID | 8647 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ABCB11 (GeneCards) |
| Number of variants in ABCB11 in this database | 3 (view all the variants) |
| Full name | ATP binding cassette subfamily B member 11 |
| Band | 2q31.1 |
| Other IDs | Vega: OTTHUMG00000154039 OMIM: 603201 HGNC: HGNC:42 Ensembl: ENSG00000073734 |
| Other names | BSEP, PGY4, SPGP, ABC16, BRIC2, PFIC2, PFIC-2 |
| 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. The protein encoded by this gene is the major canalicular bile salt export pump in man. Mutations in this gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008] |
| Individual ID | 28503910.213 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Father |
| Phenotype | 2 |
| Number of affected children | 1 |
| 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; |