| Variant ID | 20126 |
|---|---|
| Entrez Gene ID | 84961 |
| Gene | FBXL20 (GeneCards) |
| Location | hg19 17:37497667-37497667
hg38 17:39341414-39341414 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.37497667 G>A (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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3489 |
| CADD Raw score (version 1.3) | -0.081498 (Deleterious) |
| FATHMM raw prediction score | 0.11595 (Tolerated) |
| Deleterious probability by DeFine | 0.1033 (Neutral) |
| Entrez Gene ID | 84961 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FBXL20 (GeneCards) |
| Number of variants in FBXL20 in this database | 1 (view all the variants) |
| Full name | F-box and leucine rich repeat protein 20 |
| Band | 17q12 |
| Other IDs | Vega: OTTHUMG00000179002 OMIM: 609086 HGNC: HGNC:24679 Ensembl: ENSG00000108306 |
| Other names | Fbl2, Fbl20 |
| Summary | Members of the F-box protein family, such as FBXL20, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |