| Variant ID | 34706 |
|---|---|
| Entrez Gene ID | 10060 |
| Gene | ABCC9 (GeneCards) |
| Location | hg19 12:22040794-22040794
hg38 12:21887860-21887860 |
| Disease | Delusional Disorder (view all the variants in this disease) |
| Method | Whole Exome Sequencing Target Amplicon Sequencing Pyrosequencing |
| Mutation(HGVS format) | NC_000012.11:g.22040794 A>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Exon number | 13 |
| Position in protein | 626 |
| Amino acid changes in protein | A > R |
| Position in cDNA | 1877 |
| Changes in cDNA | T > G |
| mRNA accession | NM_005691.3 |
| mRNA length | NA |
| Reference length | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2002 |
| CADD Raw score (version 1.3) | 2.349426 (Deleterious) |
| FATHMM raw prediction score | 0.97253 (Tolerated) |
| SIFT score | 0.354 (Tolerated) |
| LRT score | 0.018 (Tolerated) |
| MutationTaster score | 0.781 (Tolerated) |
| MutatioinAssessor score | 1.1 (Tolerated) |
| PROVEAN score | -0.64 (Tolerated) |
| MetaSVM score | -0.333 (Tolerated) |
| MetaLR score | 0.61 (Deleterious) |
| MCAP score | 0.062 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.16 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.433 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.866 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.812 |
| Deleterious probability by iFish2 | 0.1607 (Neutral) |
| Deleterious probability by DeFine | 0.9003 (Deleterious) |
| Entrez Gene ID | 10060 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ABCC9 (GeneCards) |
| Number of variants in ABCC9 in this database | 5 (view all the variants) |
| Full name | ATP binding cassette subfamily C member 9 |
| Band | 12p12.1 |
| Other IDs | Vega: OTTHUMG00000169094 OMIM: 601439 HGNC: HGNC:60 Ensembl: ENSG00000069431 |
| Other names | SUR2, ABC37, CANTU, CMD1O, ATFB12 |
| 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 thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011] |
| Individual ID | 29654278.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29654278 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Delusional Disorder (view all the variants in this disease) |
| OMIM ID | 615610 |
| Pubmed ID | 29654278 |
|---|---|
| Title | Identification of somatic mutations in monozygotic twins discordant for psychiatric disorders |
| Journal | NPJ Schizophrenia |
| Publication date | 2018.04 |
| Disease | Delusional Disorder |
| Number of cases | Female cases: 2; |