| Entrez Gene ID | 1739 |
|---|---|
| Official Gene Symbol | DLG1 (GeneCards) |
| Full name | discs large MAGUK scaffold protein 1 |
| Location | 3q29 |
| Other ids | Vega : OTTHUMG00000047972 MIM : 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] |
Found 5 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 4821 | 1739 | DLG1 | 3 | 196930310 | 196930310 | Asymptomatic | HiSeq X Ten |
| 5052 | 1739 | DLG1 | 3 | 196909841 | 196909841 | Asymptomatic | HiSeq X Ten |
| 5728 | 1739 | DLG1 | 3 | 196947203 | 196947203 | Cockayne syndrome | HiSeq X Ten |
| 25383 | 1739 | DLG1 | 3 | 196881920 | 196881920 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 29752 | 1739 | DLG1 | 3 | 197023283 | 197023283 | Autism Spectrum Disorders | HiSeq X Ten Single cell Sequencing Cell cloning NextSeq500 |