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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 DLGAP1 |
 Gene summary |
| Gene information | Gene symbol | DLGAP1 | Gene ID | 9229 |
| Gene name | DLG associated protein 1 | |
| Synonyms | DAP-1|DAP-1-ALPHA|DAP-1-BETA|DAP1|DLGAP1A|DLGAP1B|GKAP|SAPAP1 | |
| Cytomap | 18p11.31 | |
| Type of gene | protein-coding | |
| Description | disks large-associated protein 1PSD-95/SAP90 binding protein 1SAP90/PSD-95-associated protein 1discs large homolog associated protein 1guanylate kinase-associated protein | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 30448613(Translating Alzheimer's Disease-Associated Polymorphisms Into Functional Candidates: A Survey of IGAP Genes and SNPs) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for DLGAP1 |
| 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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ENSG00000170579
| 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 |
| STG | UP | ENST00000581699.5 | DLGAP1-220:protein_coding:DLGAP1 | 9.469391e+00 | 6.400032e+00 | 9.646044e-04 | 3.780262e-02 |
| PG | DOWN | ENST00000662752.1 | DLGAP1-AS4-205:lncRNA:DLGAP1 | 2.716679e+01 | -8.160140e-01 | 2.143569e-06 | 1.600391e-04 |
| PG | DOWN | ENST00000400145.6 | DLGAP1-202:protein_coding:DLGAP1 | 8.913599e+01 | -9.963678e-01 | 3.917164e-05 | 1.368106e-03 |
| PG | DOWN | ENST00000400149.7 | DLGAP1-204:protein_coding:DLGAP1 | 1.332612e+02 | -9.289229e-01 | 1.521735e-03 | 1.966949e-02 |
| PG | UP | ENST00000573355.2 | DLGAP1-AS1-202:lncRNA:DLGAP1 | 1.238573e+00 | 2.379200e+00 | 1.955833e-03 | 2.348824e-02 |
| CB | DOWN | ENST00000485480.5 | DLGAP1-209:lncRNA:DLGAP1 | 1.351993e+01 | -1.348474e+00 | 1.888247e-09 | 7.389168e-08 |
| CB | DOWN | ENST00000577649.1 | DLGAP1-AS3-201:lncRNA:DLGAP1 | 4.975057e+00 | -1.059743e+00 | 1.237513e-03 | 6.178060e-03 |
| CB | DOWN | ENST00000568986.5 | DLGAP1-AS5-204:lncRNA:DLGAP1 | 1.248388e+00 | -1.003265e+00 | 1.528563e-03 | 7.372929e-03 |
| TC | DOWN | ENST00000485480.5 | DLGAP1-209:lncRNA:DLGAP1 | 7.648867e+00 | -9.669631e-01 | 1.948011e-04 | 2.739604e-03 |
| TC | DOWN | ENST00000400149.7 | DLGAP1-204:protein_coding:DLGAP1 | 5.849035e+02 | -9.012305e-01 | 4.325686e-04 | 5.129960e-03 |
| TC | DOWN | ENST00000582054.2 | DLGAP1-AS4-201:lncRNA:DLGAP1 | 7.396470e+00 | -8.053117e-01 | 8.548466e-04 | 8.752459e-03 |
| 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 DLGAP1 |
| 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_102510 | chr18 | 3502493:3502645:3508570:3508661:3534194:3534615 | 3508570:3508661 |
| exon_skip_118196 | chr18 | 4005116:4005201:4151180:4151287:4455006:4455022 | 4151180:4151287 |
| exon_skip_124639 | chr18 | 3581875:3582164:3656084:3656113:3729135:3729375 | 3656084:3656113 |
| exon_skip_134379 | chr18 | 3582056:3582248:3656084:3656113:3729135:3729375 | 3656084:3656113 |
| exon_skip_143038 | chr18 | 3582226:3582248:3656084:3656113:3729135:3729375 | 3656084:3656113 |
| exon_skip_167872 | chr18 | 3581875:3582248:3656084:3656113:3729135:3729375 | 3656084:3656113 |
| exon_skip_202064 | chr18 | 3582056:3582164:3656084:3656113:3729135:3729375 | 3656084:3656113 |
| exon_skip_53727 | chr18 | 3499004:3499394:3502493:3502645:3508570:3508661 | 3502493:3502645 |
| exon_skip_62716 | chr18 | 3582101:3582164:3656084:3656113:3729135:3729375 | 3656084:3656113 |
| 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 DLGAP1 |
| 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 |
| ENST00000315677 | 4151180 | 4151287 | 3UTR-3UTR |
| 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 |
| 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 |
| ENST00000315677 | 4151180 | 4151287 | 3UTR-3UTR |
| ENST00000315677 | 3508570 | 3508661 | Frame-shift |
| ENST00000315677 | 3502493 | 3502645 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DLGAP1 |
p-ENSG00000170579_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 |
| 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 |
| 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 |
| ENST00000315677 | 6700 | 977 | 3502493 | 3502645 | 3168 | 3319 | 857 | 907 |
| 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 |
| 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 |
| 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 |
| O14490 | 857 | 907 | 1 | 977 | Chain | ID=PRO_0000174288;Note=Disks large-associated protein 1 |
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3'-UTR located exon skipping events that lost miRNA binding sites in DLGAP1 |
| 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 |
| Mayo | ENST00000315677 | 4151180 | 4151287 | hsa-miR-1295b-5p | chr18:4151263-4151270 | 8mer-1a | chr18:4151248-4151270 | 150.00 | -22.63 |
| Mayo | ENST00000315677 | 4151180 | 4151287 | hsa-miR-3913-3p | chr18:4151254-4151261 | 8mer-1a | chr18:4151246-4151266 | 170.00 | -28.02 |
| Mayo | ENST00000315677 | 4151180 | 4151287 | hsa-miR-378a-5p | chr18:4151216-4151223 | 8mer-1a | chr18:4151202-4151223 | 150.00 | -16.89 |
| Mayo | ENST00000315677 | 4151180 | 4151287 | hsa-miR-1912-3p | chr18:4151263-4151270 | 8mer-1a | chr18:4151248-4151270 | 150.00 | -22.63 |
| ROSMAP | ENST00000315677 | 4151180 | 4151287 | hsa-miR-1295b-5p | chr18:4151263-4151270 | 8mer-1a | chr18:4151248-4151270 | 150.00 | -22.63 |
| ROSMAP | ENST00000315677 | 4151180 | 4151287 | hsa-miR-3913-3p | chr18:4151254-4151261 | 8mer-1a | chr18:4151246-4151266 | 170.00 | -28.02 |
| ROSMAP | ENST00000315677 | 4151180 | 4151287 | hsa-miR-378a-5p | chr18:4151216-4151223 | 8mer-1a | chr18:4151202-4151223 | 150.00 | -16.89 |
| ROSMAP | ENST00000315677 | 4151180 | 4151287 | hsa-miR-1912-3p | chr18:4151263-4151270 | 8mer-1a | chr18:4151248-4151270 | 150.00 | -22.63 |
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SNVs in the skipped exons for DLGAP1 |
| - 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 DLGAP1 |
| 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 DLGAP1 |
| 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 DLGAP1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| TC | KHDRBS2 | exon_skip_167872 | 5.230438e-01 | 1.751350e-11 |
| TC | KHDRBS3 | exon_skip_167872 | 5.216253e-01 | 2.029240e-11 |
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RelatedDrugs for DLGAP1 |
| 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 DLGAP1 |
| 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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