| Variant ID | 29869 |
|---|---|
| Entrez Gene ID | 55901 |
| Gene | THSD1 (GeneCards) |
| Location | hg19 13:52952708-52952708
hg38 13:52378573-52378573 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000013.10:g.52952708 T>C (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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0.0008 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs201805081 |
| EIGEN score | 0.6655 |
| CADD Raw score (version 1.3) | 5.054971 (Deleterious) |
| FATHMM raw prediction score | 0.94227 (Tolerated) |
| SIFT score | 0.013 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.33 (Deleterious) |
| PROVEAN score | -4.92 (Deleterious) |
| MetaSVM score | -0.7 (Tolerated) |
| MetaLR score | 0.219 (Tolerated) |
| MCAP score | 0.032 (Deleterious) |
| FitCons score | 0.563 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 6.06 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.019 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.794 |
| Deleterious probability by iFish2 | 0.2958 (Neutral) |
| Deleterious probability by DeFine | 0.9614 (Deleterious) |
| Entrez Gene ID | 55901 (NCBI Gene) |
|---|---|
| Official Gene Symbol | THSD1 (GeneCards) |
| Number of variants in THSD1 in this database | 1 (view all the variants) |
| Full name | thrombospondin type 1 domain containing 1 |
| Band | 13q14.3 |
| Other IDs | Vega: OTTHUMG00000016963 OMIM: 616821 HGNC: HGNC:17754 Ensembl: ENSG00000136114 |
| Other names | TMTSP, UNQ3010 |
| Summary | The protein encoded by this gene contains a type 1 thrombospondin domain, which is found in a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jan 2009] |
| Individual ID | 28867142.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female 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; |