| Variant ID | 29348 |
|---|---|
| Entrez Gene ID | 10071 |
| Gene | MUC12 (GeneCards) |
| Location | hg19 7:100643718-100643718
hg38 7:101000437-101000437 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000007.13:g.100643718 T>G (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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.9928 |
| CADD Raw score (version 1.3) | 0.364656 (Deleterious) |
| FATHMM raw prediction score | 0.00205 (Tolerated) |
| SIFT score | 0.225 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.69 (Tolerated) |
| PROVEAN score | 0.21 (Tolerated) |
| MetaSVM score | -0.945 (Tolerated) |
| MetaLR score | 0.016 (Tolerated) |
| MCAP score | 0.033 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 0.109 |
| PhyloP score based on multiple alignment of 100 vertebrates | -1.286 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| Deleterious probability by iFish2 | 0.0129 (Neutral) |
| Deleterious probability by DeFine | 0.1993 (Neutral) |
| Entrez Gene ID | 10071 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MUC12 (GeneCards) |
| Number of variants in MUC12 in this database | 8 (view all the variants) |
| Full name | mucin 12, cell surface associated |
| Band | 7q22.1 |
| Other IDs | Vega: OTTHUMG00000157042 OMIM: 604609 HGNC: HGNC:7510 Ensembl: ENSG00000205277 |
| Other names | MUC11, MUC-11, MUC-12 |
| Summary | This gene encodes an integral membrane glycoprotein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces and have been implicated in epithelial renewal and differentiation. These glycoproteins also play a role in intracellular signaling. This protein is expressed on the apical membrane surface of epithelial cells that line the mucosal surfaces of many different tissues including the colon, pancreas, prostate, and uterus. The expression of this gene is downregulated in colorectal cancer tissue. [provided by RefSeq, Apr 2017] |
| Individual ID | 28714951.24 (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; |