| Variant ID | 1538 |
|---|---|
| Entrez Gene ID | 64094 |
| Gene | SMOC2 (GeneCards) |
| Location | hg19 6:169051385-169051385
hg38 6:168650705-168650705 |
| Disease | Gender Dysphoria (view all the variants in this disease) |
| Method | HiSeq2500 |
| Mutation(HGVS format) | NC_000006.11:g.169051385 A>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 322 |
| Amino acid changes in protein | E > G |
| Position in cDNA | 965 |
| Changes in cDNA | A > G |
| mRNA accession | NM_001166412.1 |
| mRNA length | 3117 |
| Reference length | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4938 |
| CADD Raw score (version 1.3) | 6.261299 (Deleterious) |
| FATHMM raw prediction score | 0.96236 (Tolerated) |
| SIFT score | 0.005 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.994 (Deleterious) |
| MutatioinAssessor score | 2.32 (Deleterious) |
| PROVEAN score | -3.84 (Deleterious) |
| MetaSVM score | -0.964 (Tolerated) |
| MetaLR score | 0.13 (Tolerated) |
| MCAP score | 0.032 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.11 |
| PhyloP score based on multiple alignment of 100 vertebrates | 8.453 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.592 |
| Deleterious probability by iFish2 | 0.9809 (Deleterious) |
| Deleterious probability by DeFine | 0.9259 (Deleterious) |
| 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 | 28765789.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28765789 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Gender Dysphoria (view all the variants in this disease) |
| OMIM ID | 138249 |
| Pubmed ID | 28765789 |
|---|---|
| Title | Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease. |
| Journal | Human Genome Variation |
| Publication date | 2017.07 |
| Disease | Gender Dysphoria |
| Number of cases | Male cases: 1; |