| Variant ID | 29839 |
|---|---|
| Entrez Gene ID | 56547 |
| Gene | MMP26 (GeneCards) |
| Location | hg19 11:5011021-5011021
hg38 11:4989791-4989791 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000011.9:g.5011021 C>A (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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5082 |
| CADD Raw score (version 1.3) | 2.536713 (Deleterious) |
| FATHMM raw prediction score | 0.3332 (Tolerated) |
| SIFT score | 0.006 (Deleterious) |
| LRT score | 0.315 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.69 (Tolerated) |
| PROVEAN score | 0.43 (Tolerated) |
| MetaSVM score | -1.042 (Tolerated) |
| MetaLR score | 0.055 (Tolerated) |
| MCAP score | 0.002 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.66 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.47 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.992 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 6.912 |
| Deleterious probability by iFish2 | 0.2405 (Neutral) |
| Deleterious probability by DeFine | 0.8479 (Deleterious) |
| Entrez Gene ID | 56547 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MMP26 (GeneCards) |
| Number of variants in MMP26 in this database | 1 (view all the variants) |
| Full name | matrix metallopeptidase 26 |
| Band | 11p15.4 |
| Other IDs | Vega: OTTHUMG00000066442 OMIM: 605470 HGNC: HGNC:14249 Ensembl: ENSG00000167346 |
| Other names | None |
| Summary | Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme may degrade collagen type IV, fibronectin, fibrinogen, and beta-casein, and activate matrix metalloproteinase-9 by cleavage. The protein differs from most MMP family members in that it lacks a conserved C-terminal protein domain. The encoded protein may promote cell invasion in multiple human cancers. [provided by RefSeq, May 2016] |
| Individual ID | 28867142.11 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female 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; |