| Variant ID | 29761 |
|---|---|
| Entrez Gene ID | 22915 |
| Gene | MMRN1 (GeneCards) |
| Location | hg19 4:90874301-90874301
hg38 4:89953150-89953150 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000004.11:g.90874301 C>T (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003234 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs201006967 |
| Variant IDs in COSMIC (version 89) | 5893001 |
| Variant occurences in COSMIC | 1(skin)|1(upper_aerodigestive_tract) |
| EIGEN score | 0.7497 |
| CADD Raw score (version 1.3) | 6.920072 (Deleterious) |
| FATHMM raw prediction score | 0.91103 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.69 (Deleterious) |
| PROVEAN score | -8.67 (Deleterious) |
| MetaSVM score | 0.425 (Deleterious) |
| MetaLR score | 0.659 (Deleterious) |
| MCAP score | 0.354 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.11 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.038 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.998 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.602 |
| Deleterious probability by iFish2 | 0.7103 (Deleterious) |
| Deleterious probability by DeFine | 0.9491 (Deleterious) |
| Entrez Gene ID | 22915 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MMRN1 (GeneCards) |
| Number of variants in MMRN1 in this database | 3 (view all the variants) |
| Full name | multimerin 1 |
| Band | 4q22.1 |
| Other IDs | Vega: OTTHUMG00000130947 OMIM: 601456 HGNC: HGNC:7178 Ensembl: ENSG00000138722 |
| Other names | ECM, MMRN, GPIa*, EMILIN4 |
| Summary | Multimerin is a massive, soluble protein found in platelets and in the endothelium of blood vessels. It is comprised of subunits linked by interchain disulfide bonds to form large, variably sized homomultimers. Multimerin is a factor V/Va-binding protein and may function as a carrier protein for platelet factor V. It may also have functions as an extracellular matrix or adhesive protein. Recently, patients with an unusual autosomal-dominant bleeding disorder (factor V Quebec) were found to have a deficiency of platelet multimerin. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.33 (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; |