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mutLBSgeneDB |
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| Gene summary for DLG1 |
 Gene summary |
| Basic gene Info. | Gene symbol | DLG1 |
| Gene name | discs, large homolog 1 (Drosophila) | |
| Synonyms | DLGH1|SAP-97|SAP97|dJ1061C18.1.1|hdlg | |
| Cytomap | UCSC genome browser: 3q29 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001098424.1, NM_001204386.1,NM_001204387.1,NM_001204388.1,NM_001290983.1, NM_004087.2, | |
| Description | disks large homolog 1presynaptic protein SAP97synapse-associated protein 97 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 601014 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000075711 | ||
| HPRD : 03007 | ||
| Vega : OTTHUMG00000047972 | ||
| Protein | UniProt: Q12959 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_DLG1 | |
| BioGPS: 1739 | ||
| Pathway | NCI Pathway Interaction Database: DLG1 | |
| KEGG: DLG1 | ||
| REACTOME: DLG1 | ||
| Pathway Commons: DLG1 | ||
| Context | iHOP: DLG1 | |
| ligand binding site mutation search in PubMed: DLG1 | ||
| UCL Cancer Institute: DLG1 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0001935 | endothelial cell proliferation | 14699157 | GO:0007015 | actin filament organization | 14699157 | GO:0016337 | single organismal cell-cell adhesion | 14699157 | GO:0030866 | cortical actin cytoskeleton organization | 14699157 | GO:0042391 | regulation of membrane potential | 12970345 | GO:0043268 | positive regulation of potassium ion transport | 12970345 | GO:0070830 | tight junction assembly | 17332497 | GO:0090004 | positive regulation of establishment of protein localization to plasma membrane | 12970345 |
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| Ligand binding site mutations for DLG1 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | N244 | N244T | BRCA | 1 | I333 | S332G | LUSC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for DLG1 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | N244 | N244T | -1.0206505 | I333 | S332G | -0.75123213 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for DLG1 from PDB |
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| Differential gene expression and gene-gene network for DLG1 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for DLG1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0036341 | Schizophrenia | 5 | Biomarker, GeneticVariation |
| umls:C0008925 | Cleft Palate | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for DLG1 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of DLG1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (TYR,LEU,VAL,THR,SER,VAL) | 3rl8 | B | I333 | III | Peptide ligand (TYR,LEU,VAL,THR,SER,VAL) | 4g69 | A | I333 | III | Peptide ligand (GLU,ARG,THR,ARG,GLN,ARG,ASN,GLU,THR,GLN,VAL) | 2m3m | A | I333 | III | Peptide ligand (TYR,LEU,VAL,THR,SER) | 3rl7 | B | N244 | III | Peptide ligand (SER,TYR,LEU,VAL,THR,SER,VAL) | 3rl7 | A | N244 | III | Peptide ligand (TYR,LEU,VAL,THR,SER,VAL) | 3rl7 | C | N244 | III | Peptide ligand (TYR,LEU,VAL,THR,SER) | 3rl7 | D | N244 | III | Peptide ligand (LEU,VAL,THR,SER) | 3rl7 | F | N244 |
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| Conservation information for LBS of DLG1 |
| Multiple alignments for Q12959 in multiple species |
| LBS | AA sequence | # species | Species | A239 | LGFSIAGGTDN | 6 | Homo sapiens, Drosophila melanogaster, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus | A334 | LGFSIAGGVGN | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus | A334 | LGFSIAGGIGN | 1 | Drosophila melanogaster | E385 | EEVTHEEAVTA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E385 | ENVTHELAVAT | 1 | Drosophila melanogaster | E385 | EEVTHEDAVAA | 1 | Danio rerio | E385 | EEVSHEDAVTA | 1 | Xenopus tropicalis | F236 | NSGLGFSIAGG | 5 | Homo sapiens, Drosophila melanogaster, Danio rerio, Mus musculus, Rattus norvegicus | F236 | TSGLGFSIAGG | 1 | Xenopus tropicalis | G233 | ERGNSGLGFSI | 5 | Homo sapiens, Drosophila melanogaster, Danio rerio, Mus musculus, Rattus norvegicus | G233 | ERGTSGLGFSI | 1 | Xenopus tropicalis | G235 | GNSGLGFSIAG | 5 | Homo sapiens, Drosophila melanogaster, Danio rerio, Mus musculus, Rattus norvegicus | G235 | GTSGLGFSIAG | 1 | Xenopus tropicalis | G338 | IAGGVGNQHIP | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus | G338 | IAGGIGNQHIP | 1 | Drosophila melanogaster | H289 | VRDVTHSKAVE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H289 | VVDVPHASAVD | 1 | Drosophila melanogaster | H289 | VRDVTHSNAVE | 1 | Danio rerio | H289 | VHDVTHSKAVE | 1 | Xenopus tropicalis | H341 | GVGNQHIPGDN | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus | H341 | GIGNQHIPGDN | 1 | Drosophila melanogaster | H384 | LEEVTHEEAVT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H384 | LENVTHELAVA | 1 | Drosophila melanogaster | H384 | LEEVTHEDAVA | 1 | Danio rerio | H384 | LEEVSHEDAVT | 1 | Xenopus tropicalis | I238 | GLGFSIAGGTD | 6 | Homo sapiens, Drosophila melanogaster, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus | I333 | GLGFSIAGGVG | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus | I333 | GLGFSIAGGIG | 1 | Drosophila melanogaster | I354 | YVTKIIEGGAA | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | I354 | YVTKLMDGGAA | 1 | Drosophila melanogaster | I354 | YITKIIEGGAA | 1 | Danio rerio | K297 | AVEALKEAGSI | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | K297 | AVDALKKAGNV | 1 | Drosophila melanogaster | K297 | AVEALKEAGCI | 1 | Danio rerio | K327 | LIKGPKGLGFS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K327 | LVKGPKGLGFS | 2 | Danio rerio, Xenopus tropicalis | K327 | LVKGGKGLGFS | 1 | Drosophila melanogaster | K352 | SIYVTKIIEGG | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | K352 | GIYVTKLMDGG | 1 | Drosophila melanogaster | K352 | SIYITKIIEGG | 1 | Danio rerio | K392 | AVTALKNTSDF | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | K392 | AVATLKSITDK | 1 | Drosophila melanogaster | K392 | AVAALKNTPDV | 1 | Danio rerio | L234 | RGNSGLGFSIA | 5 | Homo sapiens, Drosophila melanogaster, Danio rerio, Mus musculus, Rattus norvegicus | L234 | RGTSGLGFSIA | 1 | Xenopus tropicalis | L296 | KAVEALKEAGS | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | L296 | SAVDALKKAGN | 1 | Drosophila melanogaster | L296 | NAVEALKEAGC | 1 | Danio rerio | L391 | EAVTALKNTSD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L391 | LAVATLKSITD | 1 | Drosophila melanogaster | L391 | DAVAALKNTPD | 1 | Danio rerio | L391 | DAVTALKNTSD | 1 | Xenopus tropicalis | N244 | AGGTDNPHIGD | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | N244 | AGGTDNPHIGT | 1 | Drosophila melanogaster | N244 | AGGTDNPHIGE | 1 | Danio rerio | N339 | AGGVGNQHIPG | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus | N339 | AGGIGNQHIPG | 1 | Drosophila melanogaster | P245 | GGTDNPHIGDD | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | P245 | GGTDNPHIGTD | 1 | Drosophila melanogaster | P245 | GGTDNPHIGED | 1 | Danio rerio | Q340 | GGVGNQHIPGD | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus | Q340 | GGIGNQHIPGD | 1 | Drosophila melanogaster | S237 | SGLGFSIAGGT | 6 | Homo sapiens, Drosophila melanogaster, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus | T256 | SSIFITKIITG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T256 | TSIYITKLISG | 1 | Drosophila melanogaster | T256 | PSIFITKIIPG | 1 | Danio rerio | T256 | ISIFITKIISG | 1 | Xenopus tropicalis | T351 | NSIYVTKIIEG | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | T351 | NGIYVTKLMDG | 1 | Drosophila melanogaster | T351 | NSIYITKIIEG | 1 | Danio rerio | T389 | HEEAVTALKNT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T389 | HELAVATLKSI | 1 | Drosophila melanogaster | T389 | HEDAVAALKNT | 1 | Danio rerio | T389 | HEDAVTALKNT | 1 | Xenopus tropicalis | V293 | THSKAVEALKE | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | V293 | PHASAVDALKK | 1 | Drosophila melanogaster | V293 | THSNAVEALKE | 1 | Danio rerio | V337 | SIAGGVGNQHI | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus | V337 | SIAGGIGNQHI | 1 | Drosophila melanogaster | V388 | THEEAVTALKN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V388 | THELAVATLKS | 1 | Drosophila melanogaster | V388 | THEDAVAALKN | 1 | Danio rerio | V388 | SHEDAVTALKN | 1 | Xenopus tropicalis |
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