Overview

Variant ID 17451
Entrez Gene ID 8600
Gene TNFSF11 (GeneCards)
Location hg19 13:43212520-43212520
hg38 13:42638384-42638384
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000013.10:g.43212520 T>G (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
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

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.171
CADD Raw score (version 1.3) 0.029787 (Deleterious)
FATHMM raw prediction score 0.1132 (Tolerated)
Deleterious probability by DeFine 0.3419 (Neutral)
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 #1

Individual ID 29217584.10 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217584

Pubmed ID 29217584
Title Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal Science
Publication date 2018.02
Disease Cockayne syndrome Xeroderma Pigmentosum
Number of cases Male cases: 3; Female cases: 6; cases of unknown sex: 15;