| Variant ID | 10280 |
|---|---|
| Entrez Gene ID | 7148 |
| Gene | TNXB (GeneCards) |
| Location | hg19 6:31977509-31977509
hg38 6:32009732-32009732 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.31977509 C>T (Genome Assembly: GRCh37) |
| 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.1381 |
| CADD Raw score (version 1.3) | 0.931006 (Deleterious) |
| FATHMM raw prediction score | 0.97842 (Tolerated) |
| Deleterious probability by DeFine | 0.9331 (Deleterious) |
| Entrez Gene ID | 7148 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TNXB (GeneCards) |
| Number of variants in TNXB in this database | 2 (view all the variants) |
| Full name | tenascin XB |
| Band | 6p21.33-p21.32 |
| Other IDs | Vega: OTTHUMG00000031088 OMIM: 600985 HGNC: HGNC:11976 Ensembl: ENSG00000168477 |
| Other names | XB, TNX, XBS, EDS3, HXBL, TENX, TN-X, VUR8, TNXB1, TNXB2, TNXBS, EDSCLL, EDSCLL1 |
| Summary | This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The tenascins have anti-adhesive effects, as opposed to fibronectin which is adhesive. This protein is thought to function in matrix maturation during wound healing, and its deficiency has been associated with the connective tissue disorder Ehlers-Danlos syndrome. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. It is one of four genes in this cluster which have been duplicated. The duplicated copy of this gene is incomplete and is a pseudogene which is transcribed but does not encode a protein. The structure of this gene is unusual in that it overlaps the CREBL1 and CYP21A2 genes at its 5' and 3' ends, respectively. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |