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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for DLG4 |
 Gene summary |
| Gene information | Gene symbol | DLG4 | Gene ID | 1742 |
| Gene name | discs large MAGUK scaffold protein 4 | |
| Synonyms | MRD62|PSD95|SAP-90|SAP90 | |
| Cytomap | 17p13.1 | |
| Type of gene | protein-coding | |
| Description | disks large homolog 4Tax interaction protein 15discs large homolog 4post-synaptic density protein 95synapse-associated protein 90 | |
| Modification date | 20200313 | |
| UniProtAcc | A0A3B3IRP2, A0A3B3IS17, A0A3B3ISL1, A0A3B3ISQ5, A0A3B3ISR0, | |
| Context | - 29155979(Epigenetic editing of the Dlg4/PSD95 gene improves cognition in aged and Alzheimer's disease mice) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| DLG4 | GO:0035418 | protein localization to synapse | 15496675 |
| DLG4 | GO:0045184 | establishment of protein localization | 15496675 |
| DLG4 | GO:0065003 | protein-containing complex assembly | 15496675 |
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Gene structures and expression levels for DLG4 |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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ENSG00000132535
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000399510.7 | DLG4-203:protein_coding:DLG4 | 5.418557e+00 | 1.199962e+00 | 9.766176e-03 | 3.408669e-02 |
| TC | DOWN | ENST00000489885.1 | DLG4-208:retained_intron:DLG4 | 4.968510e+02 | -1.297401e+00 | 3.272707e-10 | 5.198389e-08 |
| TC | DOWN | ENST00000649514.1 | DLG4-220:retained_intron:DLG4 | 1.629121e+01 | -9.448655e-01 | 7.584743e-03 | 4.566182e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for DLG4 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_112647 | chr17 | 7202981:7203047:7203193:7203329:7203424:7203593 | 7203193:7203329 |
| exon_skip_116033 | chr17 | 7204199:7204252:7208075:7208239:7217118:7217157 | 7208075:7208239 |
| exon_skip_136291 | chr17 | 7191267:7191358:7191893:7192002:7192945:7193049 | 7191893:7192002 |
| exon_skip_148488 | chr17 | 7204199:7204252:7208174:7208239:7217118:7217157 | 7208174:7208239 |
| exon_skip_153183 | chr17 | 7191267:7191358:7191893:7192002:7192945:7193117 | 7191893:7192002 |
| exon_skip_178202 | chr17 | 7193844:7193871:7193964:7194000:7194319:7194495 | 7193964:7194000 |
| exon_skip_183611 | chr17 | 7204199:7204252:7208174:7208239:7217118:7217188 | 7208174:7208239 |
| exon_skip_190850 | chr17 | 7204199:7204252:7208075:7208239:7217118:7217188 | 7208075:7208239 |
| exon_skip_199249 | chr17 | 7191267:7191358:7191893:7192002:7192945:7193013 | 7191893:7192002 |
| exon_skip_208119 | chr17 | 7204201:7204252:7208174:7208239:7217118:7217188 | 7208174:7208239 |
| exon_skip_211489 | chr17 | 7204008:7204058:7204199:7204252:7208174:7208239 | 7204199:7204252 |
| exon_skip_236955 | chr17 | 7191267:7191358:7191893:7192002:7192945:7193048 | 7191893:7192002 |
| exon_skip_259519 | chr17 | 7208174:7208239:7218241:7218281:7218541:7218639 | 7218241:7218281 |
| exon_skip_270209 | chr17 | 7204199:7204252:7208174:7208239:7218241:7218281 | 7208174:7208239 |
| exon_skip_52125 | chr17 | 7193964:7194000:7194319:7194495:7196220:7196334 | 7194319:7194495 |
| exon_skip_73603 | chr17 | 7204201:7204252:7208075:7208239:7217118:7217188 | 7208075:7208239 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for DLG4 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000399506 | 7191893 | 7192002 | Frame-shift |
| ENST00000399506 | 7203193 | 7203329 | Frame-shift |
| ENST00000399506 | 7208174 | 7208239 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000399506 | 7191893 | 7192002 | Frame-shift |
| ENST00000399506 | 7203193 | 7203329 | Frame-shift |
| ENST00000399506 | 7208174 | 7208239 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000399506 | 7191893 | 7192002 | Frame-shift |
| ENST00000399506 | 7193964 | 7194000 | Frame-shift |
| ENST00000399506 | 7203193 | 7203329 | Frame-shift |
| ENST00000399506 | 7194319 | 7194495 | In-frame |
| ENST00000399506 | 7208174 | 7208239 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DLG4 |
p-ENSG00000132535_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000399506 | 3202 | 724 | 7208174 | 7208239 | 223 | 287 | 10 | 31 |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000399506 | 3202 | 724 | 7208174 | 7208239 | 223 | 287 | 10 | 31 |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000399506 | 3202 | 724 | 7208174 | 7208239 | 223 | 287 | 10 | 31 |
| ENST00000399506 | 3202 | 724 | 7194319 | 7194495 | 1494 | 1669 | 434 | 492 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P78352 | 10 | 31 | 1 | 10 | Alternative sequence | ID=VSP_014929;Note=In isoform 2. MDCLCIVTTK->MSQRPRAPRSALWLLAPPLLRWAPPLLTVLHSDLFQALLDILDYYEASLSESQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9286702;Dbxref=PMID:9286702 |
| P78352 | 10 | 31 | 1 | 724 | Chain | ID=PRO_0000094560;Note=Disks large homolog 4 |
| P78352 | 10 | 31 | 2 | 15 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MES |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P78352 | 10 | 31 | 1 | 10 | Alternative sequence | ID=VSP_014929;Note=In isoform 2. MDCLCIVTTK->MSQRPRAPRSALWLLAPPLLRWAPPLLTVLHSDLFQALLDILDYYEASLSESQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9286702;Dbxref=PMID:9286702 |
| P78352 | 10 | 31 | 1 | 724 | Chain | ID=PRO_0000094560;Note=Disks large homolog 4 |
| P78352 | 10 | 31 | 2 | 15 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MES |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P78352 | 10 | 31 | 1 | 10 | Alternative sequence | ID=VSP_014929;Note=In isoform 2. MDCLCIVTTK->MSQRPRAPRSALWLLAPPLLRWAPPLLTVLHSDLFQALLDILDYYEASLSESQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9286702;Dbxref=PMID:9286702 |
| P78352 | 10 | 31 | 1 | 724 | Chain | ID=PRO_0000094560;Note=Disks large homolog 4 |
| P78352 | 10 | 31 | 2 | 15 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2MES |
| P78352 | 434 | 492 | 1 | 724 | Chain | ID=PRO_0000094560;Note=Disks large homolog 4 |
| P78352 | 434 | 492 | 428 | 498 | Domain | Note=SH3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 |
| P78352 | 434 | 492 | 449 | 449 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P31016 |
| P78352 | 434 | 492 | 480 | 480 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q62108 |
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3'-UTR located exon skipping events that lost miRNA binding sites in DLG4 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for DLG4 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for DLG4 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DLG4 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for DLG4 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for DLG4 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for DLG4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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