| Variant ID | 1116 |
|---|---|
| Entrez Gene ID | 81846 |
| Gene | SBF2 (GeneCards) |
| Location | hg19 11:9879805-9879805
hg38 11:9858258-9858258 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000011.9:g.9879805 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 690 |
| Amino acid changes in protein | E > K |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0983 |
| CADD Raw score (version 1.3) | 4.046159 (Deleterious) |
| FATHMM raw prediction score | 0.83634 (Tolerated) |
| SIFT score | 0.215 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.08 (Deleterious) |
| PROVEAN score | -2.13 (Tolerated) |
| MetaSVM score | -0.101 (Tolerated) |
| MetaLR score | 0.578 (Deleterious) |
| MCAP score | 0.066 (Deleterious) |
| FitCons score | 0.757 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.36 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.285 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.152 |
| Deleterious probability by iFish2 | 0.2836 (Neutral) |
| Deleterious probability by DeFine | 0.9203 (Deleterious) |
| Entrez Gene ID | 81846 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SBF2 (GeneCards) |
| Number of variants in SBF2 in this database | 3 (view all the variants) |
| Full name | SET binding factor 2 |
| Band | 11p15.4 |
| Other IDs | Vega: OTTHUMG00000165890 OMIM: 607697 HGNC: HGNC:2135 Ensembl: ENSG00000133812 |
| Other names | CMT4B2, MTMR13, DENND7B |
| Summary | This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008] |
| 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; |