| Variant ID | 844 |
|---|---|
| Entrez Gene ID | 23181 |
| Gene | DIP2A (GeneCards) |
| Location | hg19 21:47983843-47983843
hg38 21:46563930-46563930 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000021.8:g.47983843 G>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1388 |
| Amino acid changes in protein | E > Q |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 48129895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9679 |
| CADD Raw score (version 1.3) | 6.468125 (Deleterious) |
| FATHMM raw prediction score | 0.99833 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.885 (Deleterious) |
| PROVEAN score | -2.47 (Tolerated) |
| MetaSVM score | 0.018 (Deleterious) |
| MetaLR score | 0.457 (Tolerated) |
| MCAP score | 0.174 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.36 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.821 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.063 |
| Deleterious probability by iFish2 | 0.5301 (Deleterious) |
| Deleterious probability by DeFine | 0.9697 (Deleterious) |
| Entrez Gene ID | 23181 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DIP2A (GeneCards) |
| Number of variants in DIP2A in this database | 4 (view all the variants) |
| Full name | disco interacting protein 2 homolog A |
| Band | 21q22.3 |
| Other IDs | Vega: OTTHUMG00000090717 OMIM: 607711 HGNC: HGNC:17217 Ensembl: ENSG00000160305 |
| Other names | DIP2, C21orf106 |
| Summary | The protein encoded by this gene may be involved in axon patterning in the central nervous system. This gene is not highly expressed. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] |
| Individual ID | 27788131.01 (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; |