| Variant ID | 29835 |
|---|---|
| Entrez Gene ID | 1244 |
| Gene | ABCC2 (GeneCards) |
| Location | hg19 10:101594216-101594216
hg38 10:99834459-99834459 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000010.10:g.101594216 T>C (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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6103 |
| CADD Raw score (version 1.3) | 5.421185 (Deleterious) |
| FATHMM raw prediction score | 0.93986 (Tolerated) |
| SIFT score | 0.003 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 4.15 (Deleterious) |
| PROVEAN score | -4.92 (Deleterious) |
| MetaSVM score | 0.979 (Deleterious) |
| MetaLR score | 0.89 (Deleterious) |
| MCAP score | 0.276 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.12 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.846 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.76 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.192 |
| Deleterious probability by iFish2 | 0.9195 (Deleterious) |
| Deleterious probability by DeFine | 0.832 (Deleterious) |
| Entrez Gene ID | 1244 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ABCC2 (GeneCards) |
| Number of variants in ABCC2 in this database | 6 (view all the variants) |
| Full name | ATP binding cassette subfamily C member 2 |
| Band | 10q24.2 |
| Other IDs | Vega: OTTHUMG00000018895 OMIM: 601107 HGNC: HGNC:53 Ensembl: ENSG00000023839 |
| Other names | DJS, MRP2, cMRP, ABC30, CMOAT |
| Summary | The 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 MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.10 (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; |