ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for DLG1

Gene summary

Gene information	Gene symbol	DLG1
	Gene ID	1739
	Gene name	discs large MAGUK scaffold protein 1
	Synonyms	DLGH1\|SAP-97\|SAP97\|hdlg
	Cytomap	3q29
	Type of gene	protein-coding
	Description	disks large homolog 1dJ1061C18.1.1discs large homolog 1, scribble cell polarity complex componentpresynaptic protein SAP97synapse-associated protein 97
	Modification date	20200327
	UniProtAcc	A0A0C4DFT3, A0A3G9CMV0, A0A3G9CMW0, A0A590UJ08, A0A590UJ18, A0A590UJ25, A0A590UJ29, A0A590UJ64, A0A590UJ68, A0A590UJ81, A0A590UJ86, A0A590UJ95, A0A590UJC5, A0A590UJD9, A0A590UJE6, A0A590UJL2, A0A590UJR4, A0A590UJR5, A0A590UJS9, A0A590UJX2, A0A590UJZ4, A0A590UK02, A0A590UK13, A0A590UK31, A0A590UK48, A0A590UK52, A0A590UK70, A0A590UK81, A0A590UKA8, A8MUT6, B4E2H8, C9IYP1, C9J110, C9JCP6, C9JN61, C9JUA9, E7EQD7, F2Z2L0, H7C166, L8E7Z2, Q12959, Q6PJH1,
	Context

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene	GO ID	GO term	PubMed ID
DLG1	GO:0001935	endothelial cell proliferation	14699157
DLG1	GO:0007015	actin filament organization	14699157
DLG1	GO:0030866	cortical actin cytoskeleton organization	14699157
DLG1	GO:0042391	regulation of membrane potential	12970345
DLG1	GO:0043268	positive regulation of potassium ion transport	12970345
DLG1	GO:0070830	bicellular tight junction assembly	17332497
DLG1	GO:0098609	cell-cell adhesion	14699157
DLG1	GO:1902473	regulation of protein localization to synapse	23676497
DLG1	GO:1903078	positive regulation of protein localization to plasma membrane	12970345

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Gene structures and expression levels for DLG1

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.

ENSG00000075711

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.

Tissue type	DEG direction	ENST	Transcript info.	Base mean exp.	log2FC(AD/control)	P-value	Adjc. p-value
DLPFC	DOWN	ENST00000653795.1	DLG1-231:protein_coding:DLG1	2.696480e+01	-1.420792e+00	1.147955e-03	3.682710e-02
STG	UP	ENST00000670935.1	DLG1-269:protein_coding:DLG1	1.030819e+01	6.523097e+00	8.557737e-04	3.538104e-02
FL	UP	ENST00000659221.1	DLG1-242:protein_coding:DLG1	1.687313e+01	3.513758e+00	1.387158e-03	4.268187e-02
CB	UP	ENST00000657098.1	DLG1-238:nonsense_mediated_decay:DLG1	6.750188e+01	1.452814e+00	1.157921e-10	7.136252e-09
CB	UP	ENST00000654737.1	DLG1-233:protein_coding:DLG1	4.497579e+02	1.314373e+00	3.663169e-09	1.294844e-07
CB	UP	ENST00000664991.1	DLG1-257:protein_coding:DLG1	2.332947e+01	1.508875e+00	9.884017e-07	1.481987e-05
CB	UP	ENST00000452595.5	DLG1-217:protein_coding:DLG1	4.349927e+01	1.055700e+00	1.048048e-04	7.705418e-04
CB	UP	ENST00000667104.1	DLG1-260:protein_coding:DLG1	3.839857e+00	4.093441e+00	2.947087e-03	1.272254e-02
TC	UP	ENST00000667971.1	DLG1-262:protein_coding:DLG1	3.319172e+01	1.041801e+00	1.257156e-03	1.176815e-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 DLG1

Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_111659	chr3	197069220:197069260:197075837:197075870:197076586:197076682	197075837:197075870
exon_skip_115474	chr3	197149755:197149796:197161640:197161738:197194425:197194526	197161640:197161738
exon_skip_117078	chr3	197090912:197091026:197104903:197105005:197115927:197116024	197104903:197105005
exon_skip_117536	chr3	197085580:197085756:197090912:197091026:197104903:197105005	197090912:197091026
exon_skip_121074	chr3	197076586:197076685:197081051:197081117:197085580:197085756	197081051:197081117
exon_skip_134281	chr3	197140145:197140264:197149743:197149796:197183575:197183634	197149743:197149796
exon_skip_1349	chr3	197066704:197066754:197068502:197068537:197075837:197075870	197068502:197068537
exon_skip_136132	chr3	197140145:197140264:197142718:197142768:197149743:197149796	197142718:197142768
exon_skip_141892	chr3	197075837:197075870:197081051:197081117:197085580:197085658	197081051:197081117
exon_skip_146050	chr3	197066743:197066754:197068502:197068522:197069219:197069260	197068502:197068522
exon_skip_149025	chr3	197051577:197051668:197059889:197059998:197065276:197065438	197059889:197059998
exon_skip_152544	chr3	197068502:197068537:197069219:197069260:197075837:197075870	197069219:197069260
exon_skip_152817	chr3	197130527:197130671:197136542:197136678:197138222:197138391	197136542:197136678
exon_skip_153003	chr3	197149743:197149796:197155669:197155763:197194425:197194589	197155669:197155763
exon_skip_160924	chr3	197140145:197140264:197141230:197141353:197142718:197142768	197141230:197141353
exon_skip_169014	chr3	197142718:197142768:197149743:197149796:197194425:197194589	197149743:197149796
exon_skip_174410	chr3	197066704:197066754:197069219:197069260:197075837:197075867	197069219:197069260
exon_skip_178813	chr3	197149755:197149796:197194425:197194589:197282679:197282845	197194425:197194589
exon_skip_181647	chr3	197140140:197140264:197142718:197142768:197149743:197149796	197142718:197142768
exon_skip_182082	chr3	197149755:197149796:197155669:197155763:197194425:197194526	197155669:197155763
exon_skip_194862	chr3	197068502:197068522:197069219:197069260:197075837:197075870	197069219:197069260
exon_skip_198502	chr3	197104993:197105005:197115927:197116083:197119410:197119530	197115927:197116083
exon_skip_200271	chr3	197090912:197091026:197104903:197105005:197115927:197116083	197104903:197105005
exon_skip_201837	chr3	197075837:197075870:197076586:197076682:197081051:197081117	197076586:197076682
exon_skip_201838	chr3	197066704:197066754:197069219:197069260:197076586:197076682	197069219:197069260
exon_skip_203461	chr3	197115927:197116083:197119410:197119530:197130527:197130671	197119410:197119530
exon_skip_20419	chr3	197116038:197116083:197130527:197130671:197136542:197136678	197130527:197130671
exon_skip_205782	chr3	197066743:197066754:197075837:197075870:197076586:197076682	197075837:197075870
exon_skip_214132	chr3	197142718:197142768:197149743:197149796:197183575:197183634	197149743:197149796
exon_skip_216614	chr3	197081051:197081117:197085296:197085756:197090912:197091026	197085296:197085756
exon_skip_216825	chr3	197140145:197140264:197142718:197142768:197183575:197183634	197142718:197142768
exon_skip_227812	chr3	197194580:197194589:197270700:197270784:197282679:197282845	197270700:197270784
exon_skip_234894	chr3	197066704:197066754:197069219:197069260:197075837:197075870	197069219:197069260
exon_skip_235165	chr3	197149755:197149796:197161640:197161738:197194425:197194589	197161640:197161738
exon_skip_251501	chr3	197069219:197069260:197075837:197075870:197076586:197076682	197075837:197075870
exon_skip_253150	chr3	197076586:197076682:197081051:197081117:197085580:197085658	197081051:197081117
exon_skip_255084	chr3	197081051:197081117:197085580:197085756:197090912:197091026	197085580:197085756
exon_skip_256931	chr3	197116038:197116083:197119410:197119530:197130527:197130671	197119410:197119530
exon_skip_257313	chr3	197149755:197149796:197161640:197161738:197183575:197183634	197161640:197161738
exon_skip_259163	chr3	197066743:197066754:197069219:197069260:197076586:197076682	197069219:197069260
exon_skip_259234	chr3	197066743:197066754:197069219:197069260:197075837:197075870	197069219:197069260
exon_skip_265347	chr3	197119410:197119530:197130527:197130671:197136542:197136678	197130527:197130671
exon_skip_271840	chr3	197149755:197149796:197155669:197155763:197194425:197194589	197155669:197155763
exon_skip_285194	chr3	197066704:197066754:197068502:197068522:197069219:197069260	197068502:197068522
exon_skip_289096	chr3	197051577:197051668:197059889:197059998:197065276:197065448	197059889:197059998
exon_skip_293289	chr3	197069228:197069260:197075837:197075870:197076586:197076682	197075837:197075870
exon_skip_296496	chr3	197075837:197075870:197076586:197076685:197085580:197085658	197076586:197076685
exon_skip_41584	chr3	197140145:197140264:197142718:197142768:197194425:197194589	197142718:197142768
exon_skip_42436	chr3	197065709:197065809:197066704:197066754:197075837:197075870	197066704:197066754
exon_skip_49065	chr3	197075837:197075870:197076586:197076685:197085580:197085756	197076586:197076685
exon_skip_57271	chr3	197194425:197194589:197270700:197270784:197282679:197282845	197270700:197270784
exon_skip_64543	chr3	197142718:197142768:197149743:197149796:197194425:197194526	197149743:197149796
exon_skip_65486	chr3	197140140:197140264:197141230:197141353:197142718:197142768	197141230:197141353
exon_skip_68943	chr3	197075837:197075870:197076586:197076685:197081051:197081117	197076586:197076685
exon_skip_69022	chr3	197142718:197142768:197149743:197149796:197161640:197161738	197149743:197149796
exon_skip_70942	chr3	197142718:197142768:197149743:197149796:197155669:197155763	197149743:197149796
exon_skip_75399	chr3	197066743:197066754:197068502:197068537:197075837:197075870	197068502:197068537
exon_skip_91552	chr3	197066704:197066754:197068502:197068537:197069219:197069260	197068502:197068537
exon_skip_91591	chr3	197076586:197076685:197081051:197081117:197085580:197085658	197081051:197081117
exon_skip_9296	chr3	197066704:197066754:197075837:197075870:197076586:197076682	197075837:197075870
exon_skip_95425	chr3	197066743:197066754:197068502:197068537:197069219:197069260	197068502:197068537

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
exon_skip_91552	ROSMAP_DLPFC	2.179452e-01	3.196610e-01	-1.017158e-01	2.309008e-04
exon_skip_91552	MSBB_STG	2.816923e-01	3.862500e-01	-1.045577e-01	4.272619e-02
exon_skip_91552	MSBB_PG	1.723649e-01	3.280357e-01	-1.556708e-01	1.525726e-07
exon_skip_251501	MSBB_PG	2.985124e-01	4.239024e-01	-1.253900e-01	1.178633e-04
exon_skip_89307	Mayo_CB	5.160976e-01	6.587671e-01	-1.426696e-01	7.926296e-07
exon_skip_174410	Mayo_CB	5.643902e-01	6.978947e-01	-1.335045e-01	2.288452e-08

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Open reading frame (ORF) annotation in the exon skipping event for DLG1

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
ENST00000419354	197059889	197059998	Frame-shift
ENST00000448528	197059889	197059998	Frame-shift
ENST00000419354	197081051	197081117	Frame-shift
ENST00000448528	197081051	197081117	Frame-shift
ENST00000419354	197090912	197091026	Frame-shift
ENST00000448528	197090912	197091026	Frame-shift
ENST00000419354	197104903	197105005	Frame-shift
ENST00000448528	197104903	197105005	Frame-shift
ENST00000419354	197119410	197119530	Frame-shift
ENST00000448528	197119410	197119530	Frame-shift
ENST00000419354	197130527	197130671	Frame-shift
ENST00000448528	197130527	197130671	Frame-shift
ENST00000419354	197136542	197136678	Frame-shift
ENST00000448528	197136542	197136678	Frame-shift
ENST00000419354	197069219	197069260	In-frame
ENST00000448528	197069219	197069260	In-frame
ENST00000419354	197085580	197085756	In-frame
ENST00000448528	197085580	197085756	In-frame
ENST00000419354	197142718	197142768	In-frame
ENST00000448528	197142718	197142768	In-frame
ENST00000419354	197161640	197161738	In-frame
ENST00000448528	197161640	197161738	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
ENST00000419354	197059889	197059998	Frame-shift
ENST00000448528	197059889	197059998	Frame-shift
ENST00000419354	197081051	197081117	Frame-shift
ENST00000448528	197081051	197081117	Frame-shift
ENST00000419354	197090912	197091026	Frame-shift
ENST00000448528	197090912	197091026	Frame-shift
ENST00000419354	197104903	197105005	Frame-shift
ENST00000448528	197104903	197105005	Frame-shift
ENST00000419354	197115927	197116083	Frame-shift
ENST00000448528	197115927	197116083	Frame-shift
ENST00000419354	197119410	197119530	Frame-shift
ENST00000448528	197119410	197119530	Frame-shift
ENST00000419354	197130527	197130671	Frame-shift
ENST00000448528	197130527	197130671	Frame-shift
ENST00000419354	197136542	197136678	Frame-shift
ENST00000448528	197136542	197136678	Frame-shift
ENST00000419354	197069219	197069260	In-frame
ENST00000448528	197069219	197069260	In-frame
ENST00000419354	197161640	197161738	In-frame
ENST00000448528	197161640	197161738	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
ENST00000419354	197059889	197059998	Frame-shift
ENST00000448528	197059889	197059998	Frame-shift
ENST00000419354	197081051	197081117	Frame-shift
ENST00000448528	197081051	197081117	Frame-shift
ENST00000419354	197090912	197091026	Frame-shift
ENST00000448528	197090912	197091026	Frame-shift
ENST00000419354	197104903	197105005	Frame-shift
ENST00000448528	197104903	197105005	Frame-shift
ENST00000419354	197119410	197119530	Frame-shift
ENST00000448528	197119410	197119530	Frame-shift
ENST00000419354	197130527	197130671	Frame-shift
ENST00000448528	197130527	197130671	Frame-shift
ENST00000419354	197136542	197136678	Frame-shift
ENST00000448528	197136542	197136678	Frame-shift
ENST00000419354	197069219	197069260	In-frame
ENST00000448528	197069219	197069260	In-frame
ENST00000419354	197085580	197085756	In-frame
ENST00000448528	197085580	197085756	In-frame
ENST00000419354	197142718	197142768	In-frame
ENST00000448528	197142718	197142768	In-frame
ENST00000419354	197149743	197149796	In-frame
ENST00000448528	197149743	197149796	In-frame
ENST00000419354	197161640	197161738	In-frame
ENST00000448528	197161640	197161738	In-frame

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Infer the effects of exon skipping event on protein functional features for DLG1

p-ENSG00000075711_img4.png
boxplot

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
ENST00000419354	4011	904	197161640	197161738	771	868	161	193
ENST00000448528	2994	904	197161640	197161738	674	771	161	193
ENST00000419354	4011	904	197142718	197142768	924	973	212	228
ENST00000448528	2994	904	197142718	197142768	827	876	212	228
ENST00000419354	4011	904	197085580	197085756	2048	2223	587	645
ENST00000448528	2994	904	197085580	197085756	1951	2126	587	645
ENST00000419354	4011	904	197069219	197069260	2326	2366	679	693
ENST00000448528	2994	904	197069219	197069260	2229	2269	679	693

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
ENST00000419354	4011	904	197161640	197161738	771	868	161	193
ENST00000448528	2994	904	197161640	197161738	674	771	161	193
ENST00000419354	4011	904	197069219	197069260	2326	2366	679	693
ENST00000448528	2994	904	197069219	197069260	2229	2269	679	693

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
ENST00000419354	4011	904	197161640	197161738	771	868	161	193
ENST00000448528	2994	904	197161640	197161738	674	771	161	193
ENST00000419354	4011	904	197149743	197149796	870	922	194	211
ENST00000448528	2994	904	197149743	197149796	773	825	194	211
ENST00000419354	4011	904	197142718	197142768	924	973	212	228
ENST00000448528	2994	904	197142718	197142768	827	876	212	228
ENST00000419354	4011	904	197085580	197085756	2048	2223	587	645
ENST00000448528	2994	904	197085580	197085756	1951	2126	587	645
ENST00000419354	4011	904	197069219	197069260	2326	2366	679	693
ENST00000448528	2994	904	197069219	197069260	2229	2269	679	693

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
Q12959	161	193	78	193	Alternative sequence	ID=VSP_045897;Note=In isoform 8 and isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q12959	161	193	78	193	Alternative sequence	ID=VSP_045897;Note=In isoform 8 and isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q12959	161	193	162	194	Alternative sequence	ID=VSP_012862;Note=In isoform 3%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:7937897;Dbxref=PMID:15489334,PMID:7937897
Q12959	161	193	162	194	Alternative sequence	ID=VSP_012862;Note=In isoform 3%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:7937897;Dbxref=PMID:15489334,PMID:7937897
Q12959	161	193	1	904	Chain	ID=PRO_0000094548;Note=Disks large homolog 1
Q12959	161	193	1	904	Chain	ID=PRO_0000094548;Note=Disks large homolog 1
Q12959	161	193	162	212	Region	Note=Interaction with SH3 domains
Q12959	161	193	162	212	Region	Note=Interaction with SH3 domains
Q12959	212	228	195	212	Alternative sequence	ID=VSP_012863;Note=In isoform 5. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12959	212	228	195	212	Alternative sequence	ID=VSP_012863;Note=In isoform 5. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12959	212	228	221	228	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3RL7
Q12959	212	228	221	228	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3RL7
Q12959	212	228	1	904	Chain	ID=PRO_0000094548;Note=Disks large homolog 1
Q12959	212	228	1	904	Chain	ID=PRO_0000094548;Note=Disks large homolog 1
Q12959	212	228	224	310	Domain	Note=PDZ 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00143
Q12959	212	228	224	310	Domain	Note=PDZ 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00143
Q12959	212	228	162	212	Region	Note=Interaction with SH3 domains
Q12959	212	228	162	212	Region	Note=Interaction with SH3 domains
Q12959	587	645	1	904	Chain	ID=PRO_0000094548;Note=Disks large homolog 1
Q12959	587	645	1	904	Chain	ID=PRO_0000094548;Note=Disks large homolog 1
Q12959	587	645	581	651	Domain	Note=SH3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00192
Q12959	587	645	581	651	Domain	Note=SH3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00192
Q12959	587	645	598	598	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q811D0
Q12959	587	645	598	598	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q811D0
Q12959	587	645	619	619	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18220336;Dbxref=PMID:18220336
Q12959	587	645	619	619	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18220336;Dbxref=PMID:18220336
Q12959	679	693	669	680	Alternative sequence	ID=VSP_003150;Note=In isoform 2 and isoform 4. EIPDDMGSKGLK->QSFNDKRKKNLFSRKFPFYKNKDQSEQETSDADQ;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:7937897;Dbxref=PMID:15489334,PMID:7937897
Q12959	679	693	669	680	Alternative sequence	ID=VSP_003150;Note=In isoform 2 and isoform 4. EIPDDMGSKGLK->QSFNDKRKKNLFSRKFPFYKNKDQSEQETSDADQ;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:7937897;Dbxref=PMID:15489334,PMID:7937897
Q12959	679	693	681	693	Alternative sequence	ID=VSP_012864;Note=In isoform 6. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12959	679	693	681	693	Alternative sequence	ID=VSP_012864;Note=In isoform 6. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12959	679	693	693	693	Alternative sequence	ID=VSP_012865;Note=In isoform 7 and isoform 9. Y->YLILITDEYGCSKG;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q12959	679	693	693	693	Alternative sequence	ID=VSP_012865;Note=In isoform 7 and isoform 9. Y->YLILITDEYGCSKG;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q12959	679	693	1	904	Chain	ID=PRO_0000094548;Note=Disks large homolog 1
Q12959	679	693	1	904	Chain	ID=PRO_0000094548;Note=Disks large homolog 1
Q12959	679	693	684	684	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q12959	679	693	684	684	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q12959	679	693	687	687	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
Q12959	679	693	687	687	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231

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
Q12959	161	193	78	193	Alternative sequence	ID=VSP_045897;Note=In isoform 8 and isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q12959	161	193	78	193	Alternative sequence	ID=VSP_045897;Note=In isoform 8 and isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q12959	161	193	162	194	Alternative sequence	ID=VSP_012862;Note=In isoform 3%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:7937897;Dbxref=PMID:15489334,PMID:7937897
Q12959	161	193	162	194	Alternative sequence	ID=VSP_012862;Note=In isoform 3%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:7937897;Dbxref=PMID:15489334,PMID:7937897
Q12959	161	193	1	904	Chain	ID=PRO_0000094548;Note=Disks large homolog 1
Q12959	161	193	1	904	Chain	ID=PRO_0000094548;Note=Disks large homolog 1
Q12959	161	193	162	212	Region	Note=Interaction with SH3 domains
Q12959	161	193	162	212	Region	Note=Interaction with SH3 domains
Q12959	679	693	669	680	Alternative sequence	ID=VSP_003150;Note=In isoform 2 and isoform 4. EIPDDMGSKGLK->QSFNDKRKKNLFSRKFPFYKNKDQSEQETSDADQ;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:7937897;Dbxref=PMID:15489334,PMID:7937897
Q12959	679	693	669	680	Alternative sequence	ID=VSP_003150;Note=In isoform 2 and isoform 4. EIPDDMGSKGLK->QSFNDKRKKNLFSRKFPFYKNKDQSEQETSDADQ;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:7937897;Dbxref=PMID:15489334,PMID:7937897
Q12959	679	693	681	693	Alternative sequence	ID=VSP_012864;Note=In isoform 6. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12959	679	693	681	693	Alternative sequence	ID=VSP_012864;Note=In isoform 6. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12959	679	693	693	693	Alternative sequence	ID=VSP_012865;Note=In isoform 7 and isoform 9. Y->YLILITDEYGCSKG;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q12959	679	693	693	693	Alternative sequence	ID=VSP_012865;Note=In isoform 7 and isoform 9. Y->YLILITDEYGCSKG;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q12959	679	693	1	904	Chain	ID=PRO_0000094548;Note=Disks large homolog 1
Q12959	679	693	1	904	Chain	ID=PRO_0000094548;Note=Disks large homolog 1
Q12959	679	693	684	684	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q12959	679	693	684	684	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q12959	679	693	687	687	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
Q12959	679	693	687	687	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231

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
Q12959	161	193	78	193	Alternative sequence	ID=VSP_045897;Note=In isoform 8 and isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q12959	161	193	78	193	Alternative sequence	ID=VSP_045897;Note=In isoform 8 and isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q12959	161	193	162	194	Alternative sequence	ID=VSP_012862;Note=In isoform 3%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:7937897;Dbxref=PMID:15489334,PMID:7937897
Q12959	161	193	162	194	Alternative sequence	ID=VSP_012862;Note=In isoform 3%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:7937897;Dbxref=PMID:15489334,PMID:7937897
Q12959	161	193	1	904	Chain	ID=PRO_0000094548;Note=Disks large homolog 1
Q12959	161	193	1	904	Chain	ID=PRO_0000094548;Note=Disks large homolog 1
Q12959	161	193	162	212	Region	Note=Interaction with SH3 domains
Q12959	161	193	162	212	Region	Note=Interaction with SH3 domains
Q12959	194	211	162	194	Alternative sequence	ID=VSP_012862;Note=In isoform 3%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:7937897;Dbxref=PMID:15489334,PMID:7937897
Q12959	194	211	162	194	Alternative sequence	ID=VSP_012862;Note=In isoform 3%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:7937897;Dbxref=PMID:15489334,PMID:7937897
Q12959	194	211	195	212	Alternative sequence	ID=VSP_012863;Note=In isoform 5. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12959	194	211	195	212	Alternative sequence	ID=VSP_012863;Note=In isoform 5. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12959	194	211	1	904	Chain	ID=PRO_0000094548;Note=Disks large homolog 1
Q12959	194	211	1	904	Chain	ID=PRO_0000094548;Note=Disks large homolog 1
Q12959	194	211	162	212	Region	Note=Interaction with SH3 domains
Q12959	194	211	162	212	Region	Note=Interaction with SH3 domains
Q12959	212	228	195	212	Alternative sequence	ID=VSP_012863;Note=In isoform 5. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12959	212	228	195	212	Alternative sequence	ID=VSP_012863;Note=In isoform 5. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12959	212	228	221	228	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3RL7
Q12959	212	228	221	228	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3RL7
Q12959	212	228	1	904	Chain	ID=PRO_0000094548;Note=Disks large homolog 1
Q12959	212	228	1	904	Chain	ID=PRO_0000094548;Note=Disks large homolog 1
Q12959	212	228	224	310	Domain	Note=PDZ 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00143
Q12959	212	228	224	310	Domain	Note=PDZ 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00143
Q12959	212	228	162	212	Region	Note=Interaction with SH3 domains
Q12959	212	228	162	212	Region	Note=Interaction with SH3 domains
Q12959	587	645	1	904	Chain	ID=PRO_0000094548;Note=Disks large homolog 1
Q12959	587	645	1	904	Chain	ID=PRO_0000094548;Note=Disks large homolog 1
Q12959	587	645	581	651	Domain	Note=SH3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00192
Q12959	587	645	581	651	Domain	Note=SH3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00192
Q12959	587	645	598	598	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q811D0
Q12959	587	645	598	598	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q811D0
Q12959	587	645	619	619	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18220336;Dbxref=PMID:18220336
Q12959	587	645	619	619	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18220336;Dbxref=PMID:18220336
Q12959	679	693	669	680	Alternative sequence	ID=VSP_003150;Note=In isoform 2 and isoform 4. EIPDDMGSKGLK->QSFNDKRKKNLFSRKFPFYKNKDQSEQETSDADQ;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:7937897;Dbxref=PMID:15489334,PMID:7937897
Q12959	679	693	669	680	Alternative sequence	ID=VSP_003150;Note=In isoform 2 and isoform 4. EIPDDMGSKGLK->QSFNDKRKKNLFSRKFPFYKNKDQSEQETSDADQ;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:7937897;Dbxref=PMID:15489334,PMID:7937897
Q12959	679	693	681	693	Alternative sequence	ID=VSP_012864;Note=In isoform 6. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12959	679	693	681	693	Alternative sequence	ID=VSP_012864;Note=In isoform 6. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q12959	679	693	693	693	Alternative sequence	ID=VSP_012865;Note=In isoform 7 and isoform 9. Y->YLILITDEYGCSKG;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q12959	679	693	693	693	Alternative sequence	ID=VSP_012865;Note=In isoform 7 and isoform 9. Y->YLILITDEYGCSKG;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q12959	679	693	1	904	Chain	ID=PRO_0000094548;Note=Disks large homolog 1
Q12959	679	693	1	904	Chain	ID=PRO_0000094548;Note=Disks large homolog 1
Q12959	679	693	684	684	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q12959	679	693	684	684	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
Q12959	679	693	687	687	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231
Q12959	679	693	687	687	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:20068231;Dbxref=PMID:18669648,PMID:20068231

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3'-UTR located exon skipping events that lost miRNA binding sites in DLG1

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 DLG1

- 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 DLG1

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	ROSMAP	PCC	exon_skip_91552	-3.062349e-01	4.770000e-06	chr3	-	197066704	197066754	197068502	197068537	197069219	197069260
CDR	MSBB	IFG	exon_skip_285194	-5.327279e-01	3.516457e-03	chr3	-	197066704	197066754	197068502	197068522	197069219	197069260
CDR	MSBB	IFG	exon_skip_201837	4.681221e-01	1.199665e-02	chr3	-	197075837	197075870	197076586	197076682	197081051	197081117
CDR	MSBB	IFG	exon_skip_117078	4.212508e-01	2.558370e-02	chr3	-	197090912	197091026	197104903	197105005	197115927	197116024
CDR	MSBB	IFG	exon_skip_68943	4.042971e-01	3.285447e-02	chr3	-	197075837	197075870	197076586	197076685	197081051	197081117

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DLG1

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 DLG1

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	TRA2A	exon_skip_89307	-5.246242e-01	2.439142e-12
CB	TRA2A	exon_skip_174410	-6.594098e-01	4.492768e-21
CB	SRSF2	exon_skip_251501	4.477360e-01	5.810600e-09
CB	HNRNPH2	exon_skip_251501	4.481649e-01	5.597078e-09
CB	RBM6	exon_skip_214132	-5.695409e-01	6.225561e-12
CB	CNOT4	exon_skip_214132	-5.462399e-01	6.361575e-11
CB	PCBP1	exon_skip_214132	-4.747637e-01	2.890324e-08
CB	PCBP4	exon_skip_214132	5.428350e-01	8.803282e-11
CB	RBM45	exon_skip_214132	7.447192e-01	5.418209e-23
CB	HNRNPAB	exon_skip_214132	-4.000575e-01	4.550771e-06
CB	NUP42	exon_skip_214132	6.437429e-01	9.676643e-16
CB	RBM23	exon_skip_214132	-4.469390e-01	2.194059e-07
CB	RBM6	exon_skip_169014	-4.084482e-01	9.953552e-08
CB	CNOT4	exon_skip_169014	-5.544684e-01	4.080666e-14
CB	PCBP1	exon_skip_169014	-4.401103e-01	7.197836e-09
CB	PCBP4	exon_skip_169014	5.425306e-01	1.796278e-13
CB	ENOX1	exon_skip_169014	-4.140177e-01	6.393275e-08
CB	RBM45	exon_skip_169014	5.944910e-01	1.795569e-16
CB	RBM23	exon_skip_169014	-4.032871e-01	1.489487e-07
DLPFC	MBNL1	exon_skip_91552	4.090275e-01	5.042832e-15
DLPFC	PTBP3	exon_skip_91552	4.627404e-01	2.757502e-19
DLPFC	RBFOX2	exon_skip_89307	4.549628e-01	1.026560e-13
FL	MATR3	exon_skip_91552	5.527012e-01	4.503945e-17
FL	ILF2	exon_skip_91552	5.551216e-01	3.081786e-17
HCC	SF1	exon_skip_91552	-4.964336e-01	2.154914e-18
HCC	HNRNPF	exon_skip_251501	-4.547433e-01	2.750836e-15
IFG	MATR3	exon_skip_91552	5.750521e-01	1.369129e-03
IFG	ESRP1	exon_skip_91552	4.116359e-01	2.952607e-02
IFG	PABPN1L	exon_skip_201837	4.191123e-01	2.642123e-02
IFG	PTBP1	exon_skip_201837	4.608569e-01	1.358190e-02
IFG	TRNAU1AP	exon_skip_68943	4.316781e-01	2.180358e-02
IFG	TRA2A	exon_skip_68943	5.055024e-01	6.068774e-03
IFG	PTBP1	exon_skip_68943	5.677027e-01	1.627416e-03
IFG	RBM5	exon_skip_121074	4.236420e-01	2.467291e-02
IFG	PCBP2	exon_skip_214132	-5.064424e-01	8.289669e-03
IFG	PCBP2	exon_skip_169014	-4.416124e-01	1.863993e-02
IFG	PCBP4	exon_skip_257313	4.624643e-01	1.992927e-02
PCC	HNRNPF	exon_skip_293289	-4.476277e-01	6.844495e-12
PCC	PTBP1	exon_skip_201837	4.318905e-01	3.506460e-11
PG	MATR3	exon_skip_91552	5.357954e-01	1.485632e-16
PG	ILF2	exon_skip_91552	4.749363e-01	7.121587e-13
STG	MATR3	exon_skip_91552	5.401113e-01	4.690428e-08
STG	ILF2	exon_skip_91552	4.261009e-01	3.137091e-05
STG	RBM45	exon_skip_169014	4.086764e-01	7.718422e-05
TC	MBNL1	exon_skip_95425	4.727197e-01	2.761331e-10
TC	MATR3	exon_skip_95425	7.449411e-01	1.422118e-29
TC	ILF2	exon_skip_95425	5.049022e-01	9.882225e-12
TC	PTBP3	exon_skip_95425	5.522059e-01	3.749958e-14
TC	ESRP1	exon_skip_95425	6.518062e-01	1.015861e-20
TC	HNRNPH2	exon_skip_205782	4.936339e-01	7.588170e-09
TC	ESRP1	exon_skip_205782	5.003340e-01	4.407250e-09
TC	EWSR1	exon_skip_111659	4.067513e-01	9.434261e-08
TC	HNRNPH2	exon_skip_111659	4.231262e-01	2.485415e-08

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RelatedDrugs for DLG1

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 DLG1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for DLG1

Gene structures and expression levels for DLG1

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for DLG1

Open reading frame (ORF) annotation in the exon skipping event for DLG1

Infer the effects of exon skipping event on protein functional features for DLG1

3'-UTR located exon skipping events that lost miRNA binding sites in DLG1

SNVs in the skipped exons for DLG1

AD stage-associated exon skippint events for DLG1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DLG1

Correlation with RNA binding proteins (RBPs) for DLG1

RelatedDrugs for DLG1

RelatedDiseases for DLG1