| Variant ID | 29798 |
|---|---|
| Entrez Gene ID | 7058 |
| Gene | THBS2 (GeneCards) |
| Location | hg19 6:169628245-169628245
hg38 6:169228150-169228150 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000006.11:g.169628245 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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) | 0.00009716 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs147580962 |
| Variant IDs in COSMIC (version 89) | 1076108 |
| Variant occurences in COSMIC | 2(large_intestine)|1(endometrium) |
| EIGEN score | 0.0662 |
| CADD Raw score (version 1.3) | 0.040843 (Deleterious) |
| FATHMM raw prediction score | 0.95165 (Tolerated) |
| Deleterious probability by DeFine | 0.8865 (Deleterious) |
| Entrez Gene ID | 7058 (NCBI Gene) |
|---|---|
| Official Gene Symbol | THBS2 (GeneCards) |
| Number of variants in THBS2 in this database | 3 (view all the variants) |
| Full name | thrombospondin 2 |
| Band | 6q27 |
| Other IDs | Vega: OTTHUMG00000045408 OMIM: 188061 HGNC: HGNC:11786 Ensembl: ENSG00000186340 |
| Other names | TSP2 |
| Summary | The protein encoded by this gene belongs to the thrombospondin family. It is a disulfide-linked homotrimeric glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein has been shown to function as a potent inhibitor of tumor growth and angiogenesis. Studies of the mouse counterpart suggest that this protein may modulate the cell surface properties of mesenchymal cells and be involved in cell adhesion and migration. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.40 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |