| Variant ID | 29425 |
|---|---|
| Entrez Gene ID | 4585 |
| Gene | MUC4 (GeneCards) |
| Location | hg19 3:195512399-195512399
hg38 3:195785528-195785528 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000003.11:g.195512399 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.9306 |
| CADD Raw score (version 1.3) | -1.206127 (Deleterious) |
| FATHMM raw prediction score | 0.01562 (Tolerated) |
| SIFT score | 0.069 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| PROVEAN score | -0.2 (Tolerated) |
| MetaSVM score | -1.058 (Tolerated) |
| MetaLR score | 0.032 (Tolerated) |
| MCAP score | 0.002 (Tolerated) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.378 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.002 |
| Deleterious probability by iFish2 | 0.0218 (Neutral) |
| Deleterious probability by DeFine | 0.1772 (Neutral) |
| Entrez Gene ID | 4585 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MUC4 (GeneCards) |
| Number of variants in MUC4 in this database | 5 (view all the variants) |
| Full name | mucin 4, cell surface associated |
| Band | 3q29 |
| Other IDs | Vega: OTTHUMG00000151827 OMIM: 158372 HGNC: HGNC:7514 Ensembl: ENSG00000145113 |
| Other names | ASGP, MUC-4, HSA276359 |
| Summary | The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.101 (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; |