Variant ID | 10134 |
---|---|
Entrez Gene ID | 64094 |
Gene | SMOC2 (GeneCards) |
Location | hg19 6:169169935-169169935
hg38 6:168769840-168769840 |
Disease | Cockayne syndrome (view all the variants in this disease) |
Method | HiSeq X Ten |
Mutation(HGVS format) | NC_000006.11:g.169169935 G>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 | -0.3343 |
CADD Raw score (version 1.3) | -0.215407 (Deleterious) |
FATHMM raw prediction score | 0.08912 (Tolerated) |
Deleterious probability by DeFine | 0.0677 (Neutral) |
Entrez Gene ID | 64094 (NCBI Gene) |
---|---|
Official Gene Symbol | SMOC2 (GeneCards) |
Number of variants in SMOC2 in this database | 16 (view all the variants) |
Full name | SPARC related modular calcium binding 2 |
Band | 6q27 |
Other IDs | Vega: OTTHUMG00000016050 OMIM: 607223 HGNC: HGNC:20323 Ensembl: ENSG00000112562 |
Other names | DTDP1, SMAP2, MST117, MSTP117, MSTP140, bA37D8.1, bA270C4A.1, dJ421D16.1 |
Summary | This gene encodes a member of the SPARC family (secreted protein acidic and rich in cysteine/osteonectin/BM-40), which are highly expressed during embryogenesis and wound healing. The gene product is a matricellular protein which promotes matrix assembly and can stimulate endothelial cell proliferation and migration, as well as angiogenic activity. Associated with pulmonary function, this secretory gene product contains a Kazal domain, two thymoglobulin type-1 domains, and two EF-hand calcium-binding domains. The encoded protein may serve as a target for controlling angiogenesis in tumor growth and myocardial ischemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] |
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; |