| Variant ID | 1121 |
|---|---|
| Entrez Gene ID | 8600 |
| Gene | TNFSF11 (GeneCards) |
| Location | hg19 13:43155261-43155261
hg38 13:42581125-42581125 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000013.10:g.43155261 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.143 |
| CADD Raw score (version 1.3) | 5.111816 (Deleterious) |
| FATHMM raw prediction score | 0.97039 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.263 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.64 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.173 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.243 |
| Deleterious probability by DeFine | 0.9656 (Deleterious) |
| Entrez Gene ID | 8600 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TNFSF11 (GeneCards) |
| Number of variants in TNFSF11 in this database | 5 (view all the variants) |
| Full name | TNF superfamily member 11 |
| Band | 13q14.11 |
| Other IDs | Vega: OTTHUMG00000016807 OMIM: 602642 HGNC: HGNC:11926 Ensembl: ENSG00000120659 |
| Other names | ODF, OPGL, sOdf, CD254, OPTB2, RANKL, TNLG6B, TRANCE, hRANKL2 |
| Summary | This gene encodes a member of the tumor necrosis factor (TNF) cytokine family which is a ligand for osteoprotegerin and functions as a key factor for osteoclast differentiation and activation. This protein was shown to be a dentritic cell survival factor and is involved in the regulation of T cell-dependent immune response. T cell activation was reported to induce expression of this gene and lead to an increase of osteoclastogenesis and bone loss. This protein was shown to activate antiapoptotic kinase AKT/PKB through a signaling complex involving SRC kinase and tumor necrosis factor receptor-associated factor (TRAF) 6, which indicated this protein may have a role in the regulation of cell apoptosis. Targeted disruption of the related gene in mice led to severe osteopetrosis and a lack of osteoclasts. The deficient mice exhibited defects in early differentiation of T and B lymphocytes, and failed to form lobulo-alveolar mammary structures during pregnancy. Two alternatively spliced transcript variants have been found. [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; |