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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 DLG2 |
 Gene summary |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| DLG2 | GO:0010923 | negative regulation of phosphatase activity | 19389623 |
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Gene structures and expression levels for DLG2 |
| 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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ENSG00000150672
| 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 |
| DLPFC | UP | ENST00000398301.6 | DLG2-205:protein_coding:DLG2 | 2.703299e+01 | 1.288039e+00 | 5.425087e-04 | 2.237179e-02 |
| PG | DOWN | ENST00000532653.5 | DLG2-230:protein_coding:DLG2 | 2.010342e+02 | -1.146158e+00 | 8.245283e-04 | 1.267624e-02 |
| CB | UP | ENST00000650630.1 | DLG2-232:protein_coding:DLG2 | 5.723627e+01 | 9.862720e-01 | 5.296866e-06 | 6.153449e-05 |
| 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 DLG2 |
| 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_103929 | chr11 | 83541691:83541858:83633211:83633325:83682158:83682269 | 83633211:83633325 |
| exon_skip_114194 | chr11 | 83471626:83471727:83472727:83472777:83483253:83483298 | 83472727:83472777 |
| exon_skip_119559 | chr11 | 83472727:83472777:83484129:83484228:83532708:83532783 | 83484129:83484228 |
| exon_skip_137840 | chr11 | 83965324:83965468:83980506:83980642:84059315:84059484 | 83980506:83980642 |
| exon_skip_153435 | chr11 | 83874420:83874488:83930328:83930483:83962885:83963023 | 83930328:83930483 |
| exon_skip_157778 | chr11 | 84251238:84251291:84272142:84272300:84273151:84273188 | 84272142:84272300 |
| exon_skip_165128 | chr11 | 85598657:85598788:85625107:85625251:85626599:85626753 | 85625107:85625251 |
| exon_skip_202763 | chr11 | 83833614:83833770:83874420:83874488:83930328:83930483 | 83874420:83874488 |
| exon_skip_251561 | chr11 | 83532751:83532783:83541682:83541858:83633211:83633325 | 83541682:83541858 |
| exon_skip_255098 | chr11 | 83633211:83633325:83651839:83651930:83724856:83724922 | 83651839:83651930 |
| exon_skip_263752 | chr11 | 83472727:83472777:83480372:83480413:83483253:83483298 | 83480372:83480413 |
| exon_skip_26945 | chr11 | 83541691:83541858:83633211:83633325:83786690:83786792 | 83633211:83633325 |
| exon_skip_286354 | chr11 | 83874420:83874488:83930328:83930483:83962885:83962924 | 83930328:83930483 |
| exon_skip_29433 | chr11 | 84163461:84163511:84251238:84251291:84273151:84273280 | 84251238:84251291 |
| exon_skip_39904 | chr11 | 83980561:83980642:84059315:84059484:84098923:84099047 | 84059315:84059484 |
| exon_skip_55687 | chr11 | 83484129:83484228:83532708:83532783:83541682:83541858 | 83532708:83532783 |
| exon_skip_6454 | chr11 | 83472727:83472777:83483253:83483298:83532708:83532783 | 83483253:83483298 |
| exon_skip_72149 | chr11 | 84059435:84059484:84098923:84099047:84163461:84163511 | 84098923:84099047 |
| exon_skip_77370 | chr11 | 83833614:83833770:83874420:83874488:83962885:83963023 | 83874420:83874488 |
| exon_skip_78025 | chr11 | 83471626:83471727:83472727:83472777:83484129:83484213 | 83472727:83472777 |
| exon_skip_92577 | chr11 | 84251238:84251291:84272142:84272300:84273151:84273280 | 84272142:84272300 |
| 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 DLG2 |
| 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 |
| ENST00000398309 | 83484129 | 83484228 | Frame-shift |
| ENST00000398309 | 84059315 | 84059484 | Frame-shift |
| ENST00000398309 | 84098923 | 84099047 | Frame-shift |
| ENST00000398309 | 83472727 | 83472777 | In-frame |
| ENST00000398309 | 83541682 | 83541858 | In-frame |
| ENST00000398309 | 83930328 | 83930483 | 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 |
| ENST00000398309 | 83484129 | 83484228 | Frame-shift |
| ENST00000398309 | 83633211 | 83633325 | Frame-shift |
| ENST00000398309 | 83980506 | 83980642 | Frame-shift |
| ENST00000398309 | 84059315 | 84059484 | Frame-shift |
| ENST00000398309 | 83874420 | 83874488 | In-frame |
| ENST00000398309 | 83930328 | 83930483 | 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 |
| ENST00000398309 | 83484129 | 83484228 | Frame-shift |
| ENST00000398309 | 83532708 | 83532783 | Frame-shift |
| ENST00000398309 | 83633211 | 83633325 | Frame-shift |
| ENST00000398309 | 84059315 | 84059484 | Frame-shift |
| ENST00000398309 | 84098923 | 84099047 | Frame-shift |
| ENST00000398309 | 83472727 | 83472777 | In-frame |
| ENST00000398309 | 83541682 | 83541858 | In-frame |
| ENST00000398309 | 83930328 | 83930483 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DLG2 |
p-ENSG00000150672_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 |
| ENST00000398309 | 7907 | 870 | 83930328 | 83930483 | 1497 | 1651 | 342 | 393 |
| ENST00000398309 | 7907 | 870 | 83541682 | 83541858 | 2097 | 2272 | 542 | 600 |
| ENST00000398309 | 7907 | 870 | 83472727 | 83472777 | 2450 | 2499 | 659 | 676 |
| 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 |
| ENST00000398309 | 7907 | 870 | 83930328 | 83930483 | 1497 | 1651 | 342 | 393 |
| ENST00000398309 | 7907 | 870 | 83874420 | 83874488 | 1653 | 1720 | 394 | 416 |
| 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 |
| ENST00000398309 | 7907 | 870 | 83930328 | 83930483 | 1497 | 1651 | 342 | 393 |
| ENST00000398309 | 7907 | 870 | 83541682 | 83541858 | 2097 | 2272 | 542 | 600 |
| ENST00000398309 | 7907 | 870 | 83472727 | 83472777 | 2450 | 2499 | 659 | 676 |
| 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 |
| Q15700 | 342 | 393 | 1 | 518 | Alternative sequence | ID=VSP_045634;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q15700 | 342 | 393 | 341 | 392 | Alternative sequence | ID=VSP_015515;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q15700 | 342 | 393 | 1 | 870 | Chain | ID=PRO_0000094553;Note=Disks large homolog 2 |
| Q15700 | 342 | 393 | 360 | 360 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q63622 |
| Q15700 | 342 | 393 | 365 | 365 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91XM9 |
| Q15700 | 542 | 600 | 1 | 870 | Chain | ID=PRO_0000094553;Note=Disks large homolog 2 |
| Q15700 | 542 | 600 | 536 | 606 | Domain | Note=SH3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 |
| Q15700 | 542 | 600 | 553 | 553 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91XM9 |
| Q15700 | 659 | 676 | 627 | 659 | Alternative sequence | ID=VSP_015516;Note=In isoform 3 and isoform 5. SFNDKRKKSFIFSRKFPFYKNKEQSEQETSDPE->DIPGLGDDGYGTKTL;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:17974005;Dbxref=PMID:14702039,PMID:17974005 |
| Q15700 | 659 | 676 | 1 | 870 | Chain | ID=PRO_0000094553;Note=Disks large homolog 2 |
| 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 |
| Q15700 | 342 | 393 | 1 | 518 | Alternative sequence | ID=VSP_045634;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q15700 | 342 | 393 | 341 | 392 | Alternative sequence | ID=VSP_015515;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q15700 | 342 | 393 | 1 | 870 | Chain | ID=PRO_0000094553;Note=Disks large homolog 2 |
| Q15700 | 342 | 393 | 360 | 360 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q63622 |
| Q15700 | 342 | 393 | 365 | 365 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91XM9 |
| Q15700 | 394 | 416 | 1 | 518 | Alternative sequence | ID=VSP_045634;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q15700 | 394 | 416 | 1 | 870 | Chain | ID=PRO_0000094553;Note=Disks large homolog 2 |
| Q15700 | 394 | 416 | 406 | 406 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q63622 |
| Q15700 | 394 | 416 | 414 | 414 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91XM9 |
| 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 |
| Q15700 | 342 | 393 | 1 | 518 | Alternative sequence | ID=VSP_045634;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q15700 | 342 | 393 | 341 | 392 | Alternative sequence | ID=VSP_015515;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q15700 | 342 | 393 | 1 | 870 | Chain | ID=PRO_0000094553;Note=Disks large homolog 2 |
| Q15700 | 342 | 393 | 360 | 360 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q63622 |
| Q15700 | 342 | 393 | 365 | 365 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91XM9 |
| Q15700 | 542 | 600 | 1 | 870 | Chain | ID=PRO_0000094553;Note=Disks large homolog 2 |
| Q15700 | 542 | 600 | 536 | 606 | Domain | Note=SH3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 |
| Q15700 | 542 | 600 | 553 | 553 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91XM9 |
| Q15700 | 659 | 676 | 627 | 659 | Alternative sequence | ID=VSP_015516;Note=In isoform 3 and isoform 5. SFNDKRKKSFIFSRKFPFYKNKEQSEQETSDPE->DIPGLGDDGYGTKTL;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:17974005;Dbxref=PMID:14702039,PMID:17974005 |
| Q15700 | 659 | 676 | 1 | 870 | Chain | ID=PRO_0000094553;Note=Disks large homolog 2 |
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3'-UTR located exon skipping events that lost miRNA binding sites in DLG2 |
| 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 DLG2 |
| - 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 DLG2 |
| 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 |
| ADstage | MSBB | IFG | exon_skip_153435 | -5.519803e-01 | 2.324781e-03 | chr11 | - | 83874420 | 83874488 | 83930328 | 83930483 | 83962885 | 83963023 |
| CDR | MSBB | IFG | exon_skip_269311 | -4.109011e-01 | 2.984653e-02 | chr11 | - | 83483253 | 83483298 | 83484129 | 83484228 | 83532708 | 83532783 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DLG2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| DLPFC | exon_skip_153435 | rs2514158 | chr11:84012149 | 5.520800e-05 | 5.047679e-03 |
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Correlation with RNA binding proteins (RBPs) for DLG2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| TC | RBM24 | exon_skip_153435 | 4.679367e-01 | 5.668851e-10 |
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RelatedDrugs for DLG2 |
| 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 DLG2 |
| 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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