| Variant ID | 29276 |
|---|---|
| Entrez Gene ID | 4588 |
| Gene | MUC6 (GeneCards) |
| Location | hg19 11:1016288-1016288
hg38 11:1016288-1016288 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000011.9:g.1016288 G>C (Genome Assembly: GRCh37) |
| 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -1.0082 |
| CADD Raw score (version 1.3) | -0.191902 (Deleterious) |
| FATHMM raw prediction score | 0.03414 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.55 (Tolerated) |
| PROVEAN score | -0.98 (Tolerated) |
| MetaSVM score | -0.979 (Tolerated) |
| MetaLR score | 0.023 (Tolerated) |
| MCAP score | 0.01 (Tolerated) |
| FitCons score | 0.421 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.65 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.567 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 5.973 |
| Deleterious probability by iFish2 | 0.0062 (Neutral) |
| Deleterious probability by DeFine | 0.7243 (Deleterious) |
| Entrez Gene ID | 4588 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MUC6 (GeneCards) |
| Number of variants in MUC6 in this database | 1 (view all the variants) |
| Full name | mucin 6, oligomeric mucus/gel-forming |
| Band | 11p15.5 |
| Other IDs | Vega: OTTHUMG00000165140 OMIM: 158374 HGNC: HGNC:7517 Ensembl: ENSG00000184956 |
| Other names | MUC-6 |
| Summary | This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. [provided by RefSeq, Dec 2016] |
| Individual ID | 28503910.153 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |