| Variant ID | 29789 |
|---|---|
| Entrez Gene ID | 3617 |
| Gene | IMPG1 (GeneCards) |
| Location | hg19 6:76660802-76660802
hg38 6:75951085-75951085 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000006.11:g.76660802 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5393 |
| CADD Raw score (version 1.3) | 11.362626 (Deleterious) |
| FATHMM raw prediction score | 0.9692 (Tolerated) |
| LRT score | 0.479 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.52 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.195 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.873 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.598 |
| Deleterious probability by DeFine | 0.67 (Deleterious) |
| Entrez Gene ID | 3617 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IMPG1 (GeneCards) |
| Number of variants in IMPG1 in this database | 24 (view all the variants) |
| Full name | interphotoreceptor matrix proteoglycan 1 |
| Band | 6q14.1 |
| Other IDs | Vega: OTTHUMG00000015063 OMIM: 602870 HGNC: HGNC:6055 Ensembl: ENSG00000112706 |
| Other names | VMD4, GP147, SPACR, IPM150 |
| Summary | This gene encodes a protein that is a major component of the retinal interphotoreceptor matrix. The encoded protein is a proteoglycan that is thought to play a role in maintaining viability of photoreceptor cells and in adhesion of the neural retina to the retinal pigment epithelium. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] |
| Individual ID | 28867142.38 (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; |