| Variant ID | 971 |
|---|---|
| Entrez Gene ID | 348654 |
| Gene | GEN1 (GeneCards) |
| Location | hg19 2:17946269-17946269
hg38 2:17765002-17765002 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000002.11:g.17946269 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 152 |
| Amino acid changes in protein | L > F |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.221 |
| CADD Raw score (version 1.3) | 3.937626 (Deleterious) |
| FATHMM raw prediction score | 0.8825 (Tolerated) |
| SIFT score | 0.028 (Deleterious) |
| LRT score | 0.004 (Tolerated) |
| MutationTaster score | 0.914 (Deleterious) |
| MutatioinAssessor score | 1.575 (Tolerated) |
| PROVEAN score | -2.28 (Tolerated) |
| MetaSVM score | -0.556 (Tolerated) |
| MetaLR score | 0.278 (Tolerated) |
| MCAP score | 0.037 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.86 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.543 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.091 |
| Deleterious probability by iFish2 | 0.2957 (Neutral) |
| Deleterious probability by DeFine | 0.9369 (Deleterious) |
| Entrez Gene ID | 348654 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GEN1 (GeneCards) |
| Number of variants in GEN1 in this database | 2 (view all the variants) |
| Full name | GEN1, Holliday junction 5' flap endonuclease |
| Band | 2p24.2 |
| Other IDs | Vega: OTTHUMG00000121173 OMIM: 612449 HGNC: HGNC:26881 Ensembl: ENSG00000178295 |
| Other names | Gen |
| Summary | This gene encodes a member of the Rad2/xeroderma pigmentosum group G nuclease family, whose members are characterized by N-terminal and internal xeroderma pigmentosum group G nuclease domains followed by helix-hairpin-helix domains and disordered C-terminal domains. The protein encoded by this gene is involved in resolution of Holliday junctions, which are intermediate four-way structures that covalently link DNA during homologous recombination and double-strand break repair. The protein resolves Holliday junctions by creating dual incisions across the junction to produce nicked duplex products that can be ligated. In addition, this protein has been found to localize to centrosomes where it has been implicated in regulation of centrosome integrity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] |
| 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; |