| Variant ID | 29518 |
|---|---|
| Entrez Gene ID | 81792 |
| Gene | ADAMTS12 (GeneCards) |
| Location | hg19 5:33576539-33576539
hg38 5:33576434-33576434 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000005.9:g.33576539 G>T (Genome Assembly: hg19) |
| 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5312 |
| CADD Raw score (version 1.3) | 1.118969 (Deleterious) |
| FATHMM raw prediction score | 0.09633 (Tolerated) |
| SIFT score | 0.085 (Tolerated) |
| LRT score | 0.052 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 2.36 (Deleterious) |
| PROVEAN score | -1.59 (Tolerated) |
| MetaSVM score | -0.981 (Tolerated) |
| MetaLR score | 0.135 (Tolerated) |
| MCAP score | 0.009 (Tolerated) |
| FitCons score | 0.638 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.41 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.62 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.003 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.125 |
| Deleterious probability by iFish2 | 0.0784 (Neutral) |
| Deleterious probability by DeFine | 0.7866 (Deleterious) |
| Entrez Gene ID | 81792 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ADAMTS12 (GeneCards) |
| Number of variants in ADAMTS12 in this database | 8 (view all the variants) |
| Full name | ADAM metallopeptidase with thrombospondin type 1 motif 12 |
| Band | 5p13.3-p13.2 |
| Other IDs | Vega: OTTHUMG00000162088 OMIM: 606184 HGNC: HGNC:14605 Ensembl: ENSG00000151388 |
| Other names | PRO4389 |
| Summary | This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.194 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |