| Variant ID | 21056 |
|---|---|
| Entrez Gene ID | 23094 |
| Gene | SIPA1L3 (GeneCards) |
| Location | hg19 19:38565490-38565490
hg38 19:38074850-38074850 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000019.9:g.38565490 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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3618 |
| CADD Raw score (version 1.3) | 0.106819 (Deleterious) |
| FATHMM raw prediction score | 0.12484 (Tolerated) |
| Deleterious probability by DeFine | 0.1099 (Neutral) |
| Entrez Gene ID | 23094 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SIPA1L3 (GeneCards) |
| Number of variants in SIPA1L3 in this database | 1 (view all the variants) |
| Full name | signal induced proliferation associated 1 like 3 |
| Band | 19q13.13-q13.2 |
| Other IDs | Vega: OTTHUMG00000073727 OMIM: 616655 HGNC: HGNC:23801 Ensembl: ENSG00000105738 |
| Other names | SPAL3, SPAR3, CTRCT45 |
| Summary | This gene belongs to the signal induced proliferation associated 1 family of genes, which encode GTPase-activating proteins specific for the GTP-binding protein Rap1. Rap1 has been implicated in regulation of cell adhesion, cell polarity, and organization of the cytoskeleton. Like other members of the family, the protein encoded by this gene contains RapGAP and PDZ domains. In addition, this protein contains a C-terminal leucine zipper domain. This gene is proposed to function in epithelial cell morphogenesis and establishment or maintenance of polarity. Consistently, expression of the protein in cell culture showed localization to cell-cell borders in apical regions, and downregulation of the gene in 3D Caco2 cell culture resulted in abnormal cell polarity and morphogenesis. Allelic variants of this gene have been associated with congenital cataracts in humans. [provided by RefSeq, Feb 2016] |
| 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; |