| Variant ID | 864 |
|---|---|
| Entrez Gene ID | 140545 |
| Gene | RNF32 (GeneCards) |
| Location | hg19 7:156437412-156437412
hg38 7:156644718-156644718 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000007.13:g.156437412 G>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 79 |
| Amino acid changes in protein | E > Q |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 452782 |
| Variant occurences in COSMIC | 1(breast) |
| EIGEN score | 0.7637 |
| CADD Raw score (version 1.3) | 5.336078 (Deleterious) |
| FATHMM raw prediction score | 0.94984 (Tolerated) |
| SIFT score | 0.006 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.87 (Deleterious) |
| PROVEAN score | -2.12 (Tolerated) |
| MetaSVM score | 0.907 (Deleterious) |
| MetaLR score | 0.864 (Deleterious) |
| MCAP score | 0.158 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.17 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.866 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 13.971 |
| Deleterious probability by iFish2 | 0.6017 (Deleterious) |
| Deleterious probability by DeFine | 0.9151 (Deleterious) |
| Entrez Gene ID | 140545 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RNF32 (GeneCards) |
| Number of variants in RNF32 in this database | 2 (view all the variants) |
| Full name | ring finger protein 32 |
| Band | 7q36.3 |
| Other IDs | Vega: OTTHUMG00000151440 OMIM: 610241 HGNC: HGNC:17118 Ensembl: ENSG00000105982 |
| Other names | HSD15, LMBR2, FKSG33 |
| Summary | The protein encoded by this gene contains two RING ring finger motifs. RING finger motifs are present in a variety of functionally distinct proteins and are known to be involved in protein-DNA or protein-protein interactions. This gene was found to be expressed during spermatogenesis, most likely in spermatocytes and/or in spermatids. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015] |
| 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; |