| Variant ID | 29752 |
|---|---|
| Entrez Gene ID | 1739 |
| Gene | DLG1 (GeneCards) |
| Location | hg19 3:197023283-197023283
hg38 3:197296412-197296412 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000003.11:g.197023283 G>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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.1674 |
| CADD Raw score (version 1.3) | 10.852543 (Deleterious) |
| FATHMM raw prediction score | 0.98955 (Tolerated) |
| LRT score | 0.001 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.09 |
| PhyloP score based on multiple alignment of 100 vertebrates | 8.839 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.801 |
| Deleterious probability by DeFine | 0.9048 (Deleterious) |
| Entrez Gene ID | 1739 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DLG1 (GeneCards) |
| Number of variants in DLG1 in this database | 5 (view all the variants) |
| Full name | discs large MAGUK scaffold protein 1 |
| Band | 3q29 |
| Other IDs | Vega: OTTHUMG00000047972 OMIM: 601014 HGNC: HGNC:2900 Ensembl: ENSG00000075711 |
| Other names | hdlg, DLGH1, SAP97, SAP-97, dJ1061C18.1.1 |
| Summary | This gene encodes a multi-domain scaffolding protein that is required for normal development. This protein may have a role in septate junction formation, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene, but the full-length nature of some of the variants is not known. [provided by RefSeq, Feb 2011] |
| Individual ID | 28867142.31 (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; |