| Variant ID | 1122 |
|---|---|
| Entrez Gene ID | 10257 |
| Gene | ABCC4 (GeneCards) |
| Location | hg19 13:95859031-95859031
hg38 13:95206777-95206777 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000013.10:g.95859031 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 306 |
| Amino acid changes in protein | E > K |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9451 |
| CADD Raw score (version 1.3) | 6.274596 (Deleterious) |
| FATHMM raw prediction score | 0.98889 (Tolerated) |
| SIFT score | 0.01 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 4.35 (Deleterious) |
| PROVEAN score | -3.51 (Deleterious) |
| MetaSVM score | 1.054 (Deleterious) |
| MetaLR score | 0.905 (Deleterious) |
| MCAP score | 0.332 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.59 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.287 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.187 |
| Deleterious probability by iFish2 | 0.3672 (Neutral) |
| Deleterious probability by DeFine | 0.9489 (Deleterious) |
| Entrez Gene ID | 10257 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ABCC4 (GeneCards) |
| Number of variants in ABCC4 in this database | 4 (view all the variants) |
| Full name | ATP binding cassette subfamily C member 4 |
| Band | 13q32.1 |
| Other IDs | Vega: OTTHUMG00000017216 OMIM: 605250 HGNC: HGNC:55 Ensembl: ENSG00000125257 |
| Other names | MRP4, MOATB, MOAT-B |
| 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 family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |