| Variant ID | 29818 |
|---|---|
| Entrez Gene ID | 2131 |
| Gene | EXT1 (GeneCards) |
| Location | hg19 8:118830706-118830706
hg38 8:117818467-117818467 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000008.10:g.118830706 C>T (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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5668 |
| CADD Raw score (version 1.3) | 3.654932 (Deleterious) |
| FATHMM raw prediction score | 0.96984 (Tolerated) |
| SIFT score | 0.093 (Tolerated) |
| LRT score | 0 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.525 (Deleterious) |
| PROVEAN score | -1.54 (Tolerated) |
| MetaSVM score | 0.495 (Deleterious) |
| MetaLR score | 0.735 (Deleterious) |
| MCAP score | 0.1 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.61 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.47 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.186 |
| Deleterious probability by iFish2 | 0.8884 (Deleterious) |
| Deleterious probability by DeFine | 0.9579 (Deleterious) |
| Entrez Gene ID | 2131 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EXT1 (GeneCards) |
| Number of variants in EXT1 in this database | 6 (view all the variants) |
| Full name | exostosin glycosyltransferase 1 |
| Band | 8q24.11 |
| Other IDs | Vega: OTTHUMG00000059718 OMIM: 608177 HGNC: HGNC:3512 Ensembl: ENSG00000182197 |
| Other names | EXT, LGS, TTV, LGCR, TRPS2 |
| Summary | This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.62 (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; |