| Variant ID | 18591 |
|---|---|
| Entrez Gene ID | 10516 |
| Gene | FBLN5 (GeneCards) |
| Location | hg19 14:92388872-92388872
hg38 14:91922528-91922528 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.92388872 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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1086 |
| CADD Raw score (version 1.3) | 0.246946 (Deleterious) |
| FATHMM raw prediction score | 0.20739 (Tolerated) |
| Deleterious probability by DeFine | 0.4991 (Neutral) |
| Entrez Gene ID | 10516 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FBLN5 (GeneCards) |
| Number of variants in FBLN5 in this database | 2 (view all the variants) |
| Full name | fibulin 5 |
| Band | 14q32.12 |
| Other IDs | Vega: OTTHUMG00000171122 OMIM: 604580 HGNC: HGNC:3602 Ensembl: ENSG00000140092 |
| Other names | EVEC, UP50, ADCL2, ARMD3, DANCE, ARCL1A, FIBL-5, HNARMD |
| Summary | The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.16 (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; |