| Variant ID | 907 |
|---|---|
| Entrez Gene ID | 58512 |
| Gene | DLGAP3 (GeneCards) |
| Location | hg19 1:35370215-35370215
hg38 1:34904614-34904614 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.35370215 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 257 |
| Amino acid changes in protein | S > F |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0.0000323 |
|---|---|
| EIGEN score | -0.1179 |
| CADD Raw score (version 1.3) | 0.699228 (Deleterious) |
| FATHMM raw prediction score | 0.83979 (Tolerated) |
| SIFT score | 0.032 (Deleterious) |
| LRT score | 0.011 (Tolerated) |
| MutationTaster score | 0.997 (Tolerated) |
| MutatioinAssessor score | 1.445 (Tolerated) |
| PROVEAN score | -1.04 (Tolerated) |
| MetaSVM score | -1.07 (Tolerated) |
| MetaLR score | 0.04 (Tolerated) |
| MCAP score | 0.006 (Tolerated) |
| FitCons score | 0.615 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.09 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.549 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 4.984 |
| Deleterious probability by iFish2 | 0.5083 (Deleterious) |
| Deleterious probability by DeFine | 0.9512 (Deleterious) |
| Entrez Gene ID | 58512 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DLGAP3 (GeneCards) |
| Number of variants in DLGAP3 in this database | 2 (view all the variants) |
| Full name | DLG associated protein 3 |
| Band | 1p34.3 |
| Other IDs | Vega: OTTHUMG00000004049 OMIM: 611413 HGNC: HGNC:30368 Ensembl: ENSG00000116544 |
| Other names | DAP3, SAPAP3 |
| Summary | None |
| 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; |