| Variant ID | 29857 |
|---|---|
| Entrez Gene ID | 80070 |
| Gene | ADAMTS20 (GeneCards) |
| Location | hg19 12:43770053-43770053
hg38 12:43376250-43376250 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000012.11:g.43770053 C>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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9489 |
| CADD Raw score (version 1.3) | 14.782415 (Deleterious) |
| FATHMM raw prediction score | 0.97819 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.74 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.107 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.071 |
| Deleterious probability by DeFine | 0.8549 (Deleterious) |
| Entrez Gene ID | 80070 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ADAMTS20 (GeneCards) |
| Number of variants in ADAMTS20 in this database | 5 (view all the variants) |
| Full name | ADAM metallopeptidase with thrombospondin type 1 motif 20 |
| Band | 12q12 |
| Other IDs | Vega: OTTHUMG00000169353 OMIM: 611681 HGNC: HGNC:17178 Ensembl: ENSG00000173157 |
| Other names | GON-1, ADAM-TS20, ADAMTS-20 |
| Summary | The protein encoded by this gene is a member of the ADAMTS family of zinc-dependent proteases. The encoded protein has a signal peptide that is cleaved to release the mature peptide, which is secreted and found in the extracellular matrix. This protein may be involved in tissue remodeling. [provided by RefSeq, Sep 2011] |
| Individual ID | 28867142.14 (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; |