| Variant ID | 29751 |
|---|---|
| Entrez Gene ID | 200958 |
| Gene | MUC20 (GeneCards) |
| Location | hg19 3:195456546-195456546
hg38 3:195729675-195729675 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000003.11:g.195456546 G>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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0.0003 |
|---|---|
| EIGEN score | 0.1838 |
| CADD Raw score (version 1.3) | 4.390664 (Deleterious) |
| FATHMM raw prediction score | 0.45236 (Tolerated) |
| SIFT score | 0.009 (Deleterious) |
| LRT score | 0.041 (Tolerated) |
| MutationTaster score | 0.575 (Tolerated) |
| MutatioinAssessor score | 1.975 (Deleterious) |
| PROVEAN score | -3.7 (Deleterious) |
| MetaSVM score | -0.662 (Tolerated) |
| MetaLR score | 0.196 (Tolerated) |
| MCAP score | 0.069 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.76 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.113 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.566 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.649 |
| Deleterious probability by iFish2 | 0.1354 (Neutral) |
| Deleterious probability by DeFine | 0.8183 (Deleterious) |
| Entrez Gene ID | 200958 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MUC20 (GeneCards) |
| Number of variants in MUC20 in this database | 1 (view all the variants) |
| Full name | mucin 20, cell surface associated |
| Band | 3q29 |
| Other IDs | Vega: OTTHUMG00000155823 OMIM: 610360 HGNC: HGNC:23282 Ensembl: ENSG00000176945 |
| Other names | MUC-20 |
| Summary | This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The C-terminus of this family member associates with the multifunctional docking site of the MET proto-oncogene and suppresses activation of some downstream MET signaling cascades. The protein features a mucin tandem repeat domain that varies between two and six copies in most individuals. Multiple variants encoding different isoforms have been found for this gene. A related pseudogene, which is also located on chromosome 3, has been identified. [provided by RefSeq, Apr 2014] |
| Individual ID | 28867142.31 (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; |