ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for PDE4DIP

Gene summary

Gene information	Gene symbol	PDE4DIP
	Gene ID	9659
	Gene name	phosphodiesterase 4D interacting protein
	Synonyms	CMYA2\|MMGL
	Cytomap	1q21.2
	Type of gene	protein-coding
	Description	myomegalincardiomyopathy-associated protein 2myomegalin/phosphodiesterase 4D interacting protein variant 8
	Modification date	20200313
	UniProtAcc	A0A075B749, A0A087WVQ4, A0A087WWI2, A0A087WWK4, A0A087WWY1, A0A087WX83, A0A087WYE4, A0A087X041, A0A087X0I1, A0A087X229, A7YY83, E9PJK3, E9PJU0, E9PNE0, E9PQG4, E9PS60, H0YCH7, H0YCY0, H0YEW6, I1VE15, Q5TB27, Q5VU43, Q6P470, Q8TBR0,
	Context

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

Gene	GO ID	GO term	PubMed ID
PDE4DIP	GO:1903358	regulation of Golgi organization	27666745

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Gene structures and expression levels for PDE4DIP

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.

ENSG00000178104

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
STG	UP	ENST00000479408.6	PDE4DIP-214:protein_coding:PDE4DIP	2.158116e+01	1.499108e+00	1.077720e-03	4.010754e-02
PG	DOWN	ENST00000620605.4	PDE4DIP-249:protein_coding:PDE4DIP	7.803415e-01	-1.250768e+00	3.694259e-03	3.700533e-02
CB	UP	ENST00000313431.13	PDE4DIP-201:protein_coding:PDE4DIP	3.578068e+02	1.936642e+00	2.131982e-15	1.061394e-12
CB	UP	ENST00000369349.7	PDE4DIP-203:protein_coding:PDE4DIP	1.220662e+03	9.906060e-01	7.510646e-11	4.977754e-09
CB	UP	ENST00000467859.3	PDE4DIP-210:lncRNA:PDE4DIP	1.862582e+02	8.729612e-01	4.945286e-09	1.666937e-07
CB	UP	ENST00000479408.6	PDE4DIP-214:protein_coding:PDE4DIP	2.699177e+01	1.276895e+00	4.611771e-07	7.771463e-06
CB	UP	ENST00000524974.5	PDE4DIP-219:protein_coding:PDE4DIP	7.182353e+02	1.001096e+00	2.463336e-06	3.223234e-05
CB	UP	ENST00000617454.4	PDE4DIP-244:protein_coding:PDE4DIP	2.052968e+00	8.569255e-01	2.155958e-03	9.802563e-03
CB	DOWN	ENST00000491426.3	PDE4DIP-216:protein_coding:PDE4DIP	1.227616e+01	-3.197793e+00	3.960924e-03	1.622914e-02
CB	UP	ENST00000530062.5	PDE4DIP-228:nonsense_mediated_decay:PDE4DIP	5.960700e+01	8.528965e-01	7.540171e-03	2.758519e-02
TC	UP	ENST00000529945.2	PDE4DIP-227:protein_coding:PDE4DIP	5.119336e+03	9.239499e-01	8.258448e-22	2.839998e-18
TC	UP	ENST00000479408.6	PDE4DIP-214:protein_coding:PDE4DIP	3.944116e+01	2.438789e+00	2.229298e-10	3.857275e-08
TC	UP	ENST00000530130.2	PDE4DIP-229:protein_coding:PDE4DIP	9.196141e+01	8.193312e-01	9.740350e-10	1.297041e-07
TC	UP	ENST00000313431.13	PDE4DIP-201:protein_coding:PDE4DIP	6.523512e+01	1.226902e+00	6.698937e-07	2.914228e-05
TC	UP	ENST00000613995.4	PDE4DIP-240:protein_coding:PDE4DIP	8.298061e+00	1.150101e+00	1.382117e-04	2.088647e-03
TC	UP	ENST00000617454.4	PDE4DIP-244:protein_coding:PDE4DIP	1.394251e+00	1.260044e+00	6.085746e-04	6.710959e-03
TC	DOWN	ENST00000491426.3	PDE4DIP-216:protein_coding:PDE4DIP	8.912456e+00	-1.945899e+00	3.332827e-03	2.470365e-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 PDE4DIP

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_102091	chr1	149027559:149027627:149028560:149028703:149029787:149029925	149028560:149028703
exon_skip_110979	chr1	149009568:149009791:149012591:149012776:149016299:149016440	149012591:149012776
exon_skip_115566	chr1	148974514:148974605:148977937:148978053:148978278:148978415	148977937:148978053
exon_skip_116659	chr1	148889802:148889894:148929197:148929273:148931800:148931810	148929197:148929273
exon_skip_117498	chr1	149029787:149029925:149030232:149030278:149031944:149032049	149030232:149030278
exon_skip_125899	chr1	149007370:149007436:149008444:149008495:149009568:149009791	149008444:149008495
exon_skip_126513	chr1	149009568:149009791:149012591:149012776:149016299:149016550	149012591:149012776
exon_skip_129529	chr1	149021029:149021153:149026715:149026831:149027401:149027444	149026715:149026831
exon_skip_132670	chr1	148889784:148889894:148929197:148929273:148931800:148931810	148929197:148929273
exon_skip_134089	chr1	148863252:148863305:148866414:148866532:148868471:148868589	148866414:148866532
exon_skip_135383	chr1	149028560:149028703:149029787:149029925:149031944:149032049	149029787:149029925
exon_skip_138267	chr1	149009691:149009791:149012591:149012776:149016299:149016550	149012591:149012776
exon_skip_139202	chr1	148808485:148808737:148863250:148863305:148868471:148868589	148863250:148863305
exon_skip_145365	chr1	148998143:148998375:149001591:149001696:149002850:149003042	149001591:149001696
exon_skip_149538	chr1	149010443:149010595:149012591:149012776:149016299:149016440	149012591:149012776
exon_skip_160711	chr1	149009568:149009791:149010443:149010595:149012591:149012776	149010443:149010595
exon_skip_166831	chr1	149029787:149029925:149030232:149030278:149031944:149032302	149030232:149030278
exon_skip_173624	chr1	149009691:149009791:149010443:149010595:149012591:149012776	149010443:149010595
exon_skip_183648	chr1	148868544:148868622:148889784:148889894:148931800:148931810	148889784:148889894
exon_skip_18932	chr1	149021029:149021153:149024445:149024684:149026715:149026803	149024445:149024684
exon_skip_198769	chr1	149009691:149009791:149010443:149010595:149016299:149016550	149010443:149010595
exon_skip_204077	chr1	148868544:148868622:148889784:148889894:148937747:148937778	148889784:148889894
exon_skip_206221	chr1	149024445:149024684:149026715:149026831:149027401:149027444	149026715:149026831
exon_skip_208872	chr1	148844536:148844794:148889784:148889894:148929197:148929273	148889784:148889894
exon_skip_218960	chr1	148844615:148844794:148863250:148863305:148868471:148868589	148863250:148863305
exon_skip_223206	chr1	149010443:149010595:149012591:149012776:149016299:149016550	149012591:149012776
exon_skip_223774	chr1	148960654:148960785:148961837:148961956:148962196:148962288	148961837:148961956
exon_skip_229997	chr1	148863252:148863305:148866414:148866505:148868471:148868589	148866414:148866505
exon_skip_232583	chr1	148979795:148979849:148981270:148981397:148991885:148991973	148981270:148981397
exon_skip_236364	chr1	148868544:148868622:148889784:148889894:148929197:148929273	148889784:148889894
exon_skip_249817	chr1	148863250:148863305:148866414:148866532:148868471:148868589	148866414:148866532
exon_skip_257310	chr1	148937747:148937864:148960654:148960785:148961837:148961956	148960654:148960785
exon_skip_257718	chr1	148844613:148844794:148863250:148863305:148868471:148868589	148863250:148863305
exon_skip_257893	chr1	149021057:149021153:149024445:149024684:149026715:149026803	149024445:149024684
exon_skip_259893	chr1	148974517:148974605:148977937:148978053:148978278:148978415	148977937:148978053
exon_skip_279110	chr1	149029787:149029925:149030232:149030278:149032000:149033016	149030232:149030278
exon_skip_287605	chr1	148863250:148863305:148866411:148866532:148868471:148868589	148866411:148866532
exon_skip_28819	chr1	148960654:148960785:148961837:148961956:148962196:148962213	148961837:148961956
exon_skip_292414	chr1	148972511:148972592:148974514:148974605:148977937:148978053	148974514:148974605
exon_skip_31544	chr1	149021063:149021153:149024445:149024684:149026715:149026803	149024445:149024684
exon_skip_33504	chr1	149009568:149009791:149010443:149010595:149016299:149016550	149010443:149010595
exon_skip_46899	chr1	148863252:148863305:148866411:148866532:148868471:148868589	148866411:148866532
exon_skip_48355	chr1	149028560:149028703:149029787:149029925:149030232:149030278	149029787:149029925
exon_skip_50947	chr1	149007201:149007436:149008444:149008495:149009568:149009791	149008444:149008495
exon_skip_53823	chr1	148998143:148998375:149001591:149002026:149002850:149003042	149001591:149002026
exon_skip_55335	chr1	148844613:148844794:148889784:148889894:148929197:148929273	148889784:148889894
exon_skip_69291	chr1	149010443:149010595:149016299:149016550:149017748:149017879	149016299:149016550
exon_skip_73772	chr1	149020147:149020336:149021029:149021153:149026715:149026803	149021029:149021153
exon_skip_75070	chr1	148863250:148863305:148866414:148866505:148868471:148868589	148866414:148866505
exon_skip_80803	chr1	149008449:149008495:149009568:149009791:149010443:149010595	149009568:149009791
exon_skip_84776	chr1	149021057:149021153:149026715:149026831:149027401:149027444	149026715:149026831
exon_skip_9275	chr1	149009568:149009791:149010443:149010595:149016299:149016440	149010443:149010595
exon_skip_9295	chr1	149020147:149020336:149021029:149021153:149024445:149024552	149021029:149021153

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_223206	ROSMAP_DLPFC	3.340845e-01	4.630631e-01	-1.289786e-01	1.118608e-04
exon_skip_223206	ROSMAP_PCC	4.913281e-01	6.117857e-01	-1.204576e-01	6.334479e-05
exon_skip_257893	ROSMAP_PCC	5.116667e-01	6.195238e-01	-1.078571e-01	6.871894e-04
exon_skip_223206	ROSMAP_HCC	5.423295e-01	6.434043e-01	-1.010747e-01	1.427155e-05
exon_skip_223206	MSBB_STG	5.261290e-01	6.904545e-01	-1.643255e-01	3.340566e-02
exon_skip_223206	MSBB_PG	3.752419e-01	5.898182e-01	-2.145762e-01	3.012858e-03
exon_skip_223206	MSBB_IFG	5.311765e-01	7.381818e-01	-2.070053e-01	3.228745e-02
exon_skip_9275	Mayo_CB	4.945122e-01	6.137838e-01	-1.192716e-01	3.304590e-05

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Open reading frame (ORF) annotation in the exon skipping event for PDE4DIP

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
ENST00000369354	148929197	148929273	Frame-shift
ENST00000369354	148981270	148981397	Frame-shift
ENST00000369354	149008444	149008495	Frame-shift
ENST00000369354	149029787	149029925	Frame-shift
ENST00000369354	149030232	149030278	Frame-shift
ENST00000369354	148960654	148960785	In-frame
ENST00000369354	148977937	148978053	In-frame
ENST00000369354	149010443	149010595	In-frame
ENST00000369354	149012591	149012776	In-frame
ENST00000369354	149024445	149024684	In-frame
ENST00000369354	149026715	149026831	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
ENST00000369354	148929197	148929273	Frame-shift
ENST00000369354	148981270	148981397	Frame-shift
ENST00000369354	149008444	149008495	Frame-shift
ENST00000369354	149009568	149009791	Frame-shift
ENST00000369354	149021029	149021153	Frame-shift
ENST00000369354	149030232	149030278	Frame-shift
ENST00000369354	148961837	148961956	In-frame
ENST00000369354	148977937	148978053	In-frame
ENST00000369354	149010443	149010595	In-frame
ENST00000369354	149012591	149012776	In-frame
ENST00000369354	149024445	149024684	In-frame
ENST00000369354	149026715	149026831	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
ENST00000369354	148929197	148929273	Frame-shift
ENST00000369354	148974514	148974605	Frame-shift
ENST00000369354	148981270	148981397	Frame-shift
ENST00000369354	149001591	149002026	Frame-shift
ENST00000369354	149008444	149008495	Frame-shift
ENST00000369354	149009568	149009791	Frame-shift
ENST00000369354	149021029	149021153	Frame-shift
ENST00000369354	149030232	149030278	Frame-shift
ENST00000369354	148961837	148961956	In-frame
ENST00000369354	148977937	148978053	In-frame
ENST00000369354	149010443	149010595	In-frame
ENST00000369354	149012591	149012776	In-frame
ENST00000369354	149024445	149024684	In-frame
ENST00000369354	149026715	149026831	In-frame
ENST00000369354	149028560	149028703	In-frame

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Infer the effects of exon skipping event on protein functional features for PDE4DIP

p-ENSG00000178104_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
ENST00000369354	8279	2346	148960654	148960785	828	958	212	256
ENST00000369354	8279	2346	148977937	148978053	2511	2626	773	812
ENST00000369354	8279	2346	149010443	149010595	5119	5270	1643	1693
ENST00000369354	8279	2346	149012591	149012776	5272	5456	1694	1755
ENST00000369354	8279	2346	149024445	149024684	6277	6515	2029	2108
ENST00000369354	8279	2346	149026715	149026831	6517	6632	2109	2147

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
ENST00000369354	8279	2346	148961837	148961956	960	1078	256	296
ENST00000369354	8279	2346	148977937	148978053	2511	2626	773	812
ENST00000369354	8279	2346	149010443	149010595	5119	5270	1643	1693
ENST00000369354	8279	2346	149012591	149012776	5272	5456	1694	1755
ENST00000369354	8279	2346	149024445	149024684	6277	6515	2029	2108
ENST00000369354	8279	2346	149026715	149026831	6517	6632	2109	2147

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
ENST00000369354	8279	2346	148961837	148961956	960	1078	256	296
ENST00000369354	8279	2346	148977937	148978053	2511	2626	773	812
ENST00000369354	8279	2346	149010443	149010595	5119	5270	1643	1693
ENST00000369354	8279	2346	149012591	149012776	5272	5456	1694	1755
ENST00000369354	8279	2346	149024445	149024684	6277	6515	2029	2108
ENST00000369354	8279	2346	149026715	149026831	6517	6632	2109	2147
ENST00000369354	8279	2346	149028560	149028703	6861	7003	2223	2271

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
Q5VU43	212	256	174	2346	Alternative sequence	ID=VSP_028775;Note=In isoform 8 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	212	256	175	2346	Alternative sequence	ID=VSP_028777;Note=In isoform 9%2C isoform 10 and isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	212	256	1	2346	Chain	ID=PRO_0000307690;Note=Myomegalin
Q5VU43	212	256	238	318	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q5VU43	773	812	174	2346	Alternative sequence	ID=VSP_028775;Note=In isoform 8 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	773	812	175	2346	Alternative sequence	ID=VSP_028777;Note=In isoform 9%2C isoform 10 and isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	773	812	1	2346	Chain	ID=PRO_0000307690;Note=Myomegalin
Q5VU43	773	812	743	936	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q5VU43	773	812	776	776	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5VU43	773	812	783	783	Sequence conflict	Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5VU43	773	812	783	783	Sequence conflict	Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5VU43	1643	1693	174	2346	Alternative sequence	ID=VSP_028775;Note=In isoform 8 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	1643	1693	175	2346	Alternative sequence	ID=VSP_028777;Note=In isoform 9%2C isoform 10 and isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	1643	1693	954	2346	Alternative sequence	ID=VSP_059334;Note=In isoform 13. Missing
Q5VU43	1643	1693	970	2346	Alternative sequence	ID=VSP_028779;Note=In isoform 2 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:17974005,ECO:0000303\|PubMed:9455484;Dbxref=PMID:15489334,PMID:17974005,PMID:9455484
Q5VU43	1643	1693	989	2346	Alternative sequence	ID=VSP_028780;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q5VU43	1643	1693	1	2346	Chain	ID=PRO_0000307690;Note=Myomegalin
Q5VU43	1694	1755	174	2346	Alternative sequence	ID=VSP_028775;Note=In isoform 8 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	1694	1755	175	2346	Alternative sequence	ID=VSP_028777;Note=In isoform 9%2C isoform 10 and isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	1694	1755	954	2346	Alternative sequence	ID=VSP_059334;Note=In isoform 13. Missing
Q5VU43	1694	1755	970	2346	Alternative sequence	ID=VSP_028779;Note=In isoform 2 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:17974005,ECO:0000303\|PubMed:9455484;Dbxref=PMID:15489334,PMID:17974005,PMID:9455484
Q5VU43	1694	1755	989	2346	Alternative sequence	ID=VSP_028780;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q5VU43	1694	1755	1695	1756	Alternative sequence	ID=VSP_028782;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9455484;Dbxref=PMID:9455484
Q5VU43	1694	1755	1	2346	Chain	ID=PRO_0000307690;Note=Myomegalin
Q5VU43	1694	1755	1736	1760	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q5VU43	1694	1755	1736	1736	Natural variant	ID=VAR_051213;Note=V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17974005;Dbxref=dbSNP:rs1778159,PMID:17974005
Q5VU43	1694	1755	1742	1742	Natural variant	ID=VAR_051214;Note=A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17974005;Dbxref=dbSNP:rs1698605,PMID:17974005
Q5VU43	1694	1755	1727	1727	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5VU43	2029	2108	174	2346	Alternative sequence	ID=VSP_028775;Note=In isoform 8 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	2029	2108	175	2346	Alternative sequence	ID=VSP_028777;Note=In isoform 9%2C isoform 10 and isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	2029	2108	954	2346	Alternative sequence	ID=VSP_059334;Note=In isoform 13. Missing
Q5VU43	2029	2108	970	2346	Alternative sequence	ID=VSP_028779;Note=In isoform 2 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:17974005,ECO:0000303\|PubMed:9455484;Dbxref=PMID:15489334,PMID:17974005,PMID:9455484
Q5VU43	2029	2108	989	2346	Alternative sequence	ID=VSP_028780;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q5VU43	2029	2108	1	2346	Chain	ID=PRO_0000307690;Note=Myomegalin
Q5VU43	2029	2108	1840	2077	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q5VU43	2029	2108	2088	2088	Sequence conflict	Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5VU43	2109	2147	174	2346	Alternative sequence	ID=VSP_028775;Note=In isoform 8 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	2109	2147	175	2346	Alternative sequence	ID=VSP_028777;Note=In isoform 9%2C isoform 10 and isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	2109	2147	954	2346	Alternative sequence	ID=VSP_059334;Note=In isoform 13. Missing
Q5VU43	2109	2147	970	2346	Alternative sequence	ID=VSP_028779;Note=In isoform 2 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:17974005,ECO:0000303\|PubMed:9455484;Dbxref=PMID:15489334,PMID:17974005,PMID:9455484
Q5VU43	2109	2147	989	2346	Alternative sequence	ID=VSP_028780;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q5VU43	2109	2147	1	2346	Chain	ID=PRO_0000307690;Note=Myomegalin

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
Q5VU43	256	296	174	2346	Alternative sequence	ID=VSP_028775;Note=In isoform 8 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	256	296	175	2346	Alternative sequence	ID=VSP_028777;Note=In isoform 9%2C isoform 10 and isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	256	296	1	2346	Chain	ID=PRO_0000307690;Note=Myomegalin
Q5VU43	256	296	238	318	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q5VU43	773	812	174	2346	Alternative sequence	ID=VSP_028775;Note=In isoform 8 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	773	812	175	2346	Alternative sequence	ID=VSP_028777;Note=In isoform 9%2C isoform 10 and isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	773	812	1	2346	Chain	ID=PRO_0000307690;Note=Myomegalin
Q5VU43	773	812	743	936	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q5VU43	773	812	776	776	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5VU43	773	812	783	783	Sequence conflict	Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5VU43	773	812	783	783	Sequence conflict	Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5VU43	1643	1693	174	2346	Alternative sequence	ID=VSP_028775;Note=In isoform 8 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	1643	1693	175	2346	Alternative sequence	ID=VSP_028777;Note=In isoform 9%2C isoform 10 and isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	1643	1693	954	2346	Alternative sequence	ID=VSP_059334;Note=In isoform 13. Missing
Q5VU43	1643	1693	970	2346	Alternative sequence	ID=VSP_028779;Note=In isoform 2 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:17974005,ECO:0000303\|PubMed:9455484;Dbxref=PMID:15489334,PMID:17974005,PMID:9455484
Q5VU43	1643	1693	989	2346	Alternative sequence	ID=VSP_028780;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q5VU43	1643	1693	1	2346	Chain	ID=PRO_0000307690;Note=Myomegalin
Q5VU43	1694	1755	174	2346	Alternative sequence	ID=VSP_028775;Note=In isoform 8 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	1694	1755	175	2346	Alternative sequence	ID=VSP_028777;Note=In isoform 9%2C isoform 10 and isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	1694	1755	954	2346	Alternative sequence	ID=VSP_059334;Note=In isoform 13. Missing
Q5VU43	1694	1755	970	2346	Alternative sequence	ID=VSP_028779;Note=In isoform 2 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:17974005,ECO:0000303\|PubMed:9455484;Dbxref=PMID:15489334,PMID:17974005,PMID:9455484
Q5VU43	1694	1755	989	2346	Alternative sequence	ID=VSP_028780;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q5VU43	1694	1755	1695	1756	Alternative sequence	ID=VSP_028782;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9455484;Dbxref=PMID:9455484
Q5VU43	1694	1755	1	2346	Chain	ID=PRO_0000307690;Note=Myomegalin
Q5VU43	1694	1755	1736	1760	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q5VU43	1694	1755	1736	1736	Natural variant	ID=VAR_051213;Note=V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17974005;Dbxref=dbSNP:rs1778159,PMID:17974005
Q5VU43	1694	1755	1742	1742	Natural variant	ID=VAR_051214;Note=A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17974005;Dbxref=dbSNP:rs1698605,PMID:17974005
Q5VU43	1694	1755	1727	1727	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5VU43	2029	2108	174	2346	Alternative sequence	ID=VSP_028775;Note=In isoform 8 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	2029	2108	175	2346	Alternative sequence	ID=VSP_028777;Note=In isoform 9%2C isoform 10 and isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	2029	2108	954	2346	Alternative sequence	ID=VSP_059334;Note=In isoform 13. Missing
Q5VU43	2029	2108	970	2346	Alternative sequence	ID=VSP_028779;Note=In isoform 2 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:17974005,ECO:0000303\|PubMed:9455484;Dbxref=PMID:15489334,PMID:17974005,PMID:9455484
Q5VU43	2029	2108	989	2346	Alternative sequence	ID=VSP_028780;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q5VU43	2029	2108	1	2346	Chain	ID=PRO_0000307690;Note=Myomegalin
Q5VU43	2029	2108	1840	2077	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q5VU43	2029	2108	2088	2088	Sequence conflict	Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5VU43	2109	2147	174	2346	Alternative sequence	ID=VSP_028775;Note=In isoform 8 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	2109	2147	175	2346	Alternative sequence	ID=VSP_028777;Note=In isoform 9%2C isoform 10 and isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	2109	2147	954	2346	Alternative sequence	ID=VSP_059334;Note=In isoform 13. Missing
Q5VU43	2109	2147	970	2346	Alternative sequence	ID=VSP_028779;Note=In isoform 2 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:17974005,ECO:0000303\|PubMed:9455484;Dbxref=PMID:15489334,PMID:17974005,PMID:9455484
Q5VU43	2109	2147	989	2346	Alternative sequence	ID=VSP_028780;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q5VU43	2109	2147	1	2346	Chain	ID=PRO_0000307690;Note=Myomegalin

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
Q5VU43	256	296	174	2346	Alternative sequence	ID=VSP_028775;Note=In isoform 8 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	256	296	175	2346	Alternative sequence	ID=VSP_028777;Note=In isoform 9%2C isoform 10 and isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	256	296	1	2346	Chain	ID=PRO_0000307690;Note=Myomegalin
Q5VU43	256	296	238	318	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q5VU43	773	812	174	2346	Alternative sequence	ID=VSP_028775;Note=In isoform 8 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	773	812	175	2346	Alternative sequence	ID=VSP_028777;Note=In isoform 9%2C isoform 10 and isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	773	812	1	2346	Chain	ID=PRO_0000307690;Note=Myomegalin
Q5VU43	773	812	743	936	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q5VU43	773	812	776	776	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5VU43	773	812	783	783	Sequence conflict	Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5VU43	773	812	783	783	Sequence conflict	Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5VU43	1643	1693	174	2346	Alternative sequence	ID=VSP_028775;Note=In isoform 8 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	1643	1693	175	2346	Alternative sequence	ID=VSP_028777;Note=In isoform 9%2C isoform 10 and isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	1643	1693	954	2346	Alternative sequence	ID=VSP_059334;Note=In isoform 13. Missing
Q5VU43	1643	1693	970	2346	Alternative sequence	ID=VSP_028779;Note=In isoform 2 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:17974005,ECO:0000303\|PubMed:9455484;Dbxref=PMID:15489334,PMID:17974005,PMID:9455484
Q5VU43	1643	1693	989	2346	Alternative sequence	ID=VSP_028780;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q5VU43	1643	1693	1	2346	Chain	ID=PRO_0000307690;Note=Myomegalin
Q5VU43	1694	1755	174	2346	Alternative sequence	ID=VSP_028775;Note=In isoform 8 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	1694	1755	175	2346	Alternative sequence	ID=VSP_028777;Note=In isoform 9%2C isoform 10 and isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	1694	1755	954	2346	Alternative sequence	ID=VSP_059334;Note=In isoform 13. Missing
Q5VU43	1694	1755	970	2346	Alternative sequence	ID=VSP_028779;Note=In isoform 2 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:17974005,ECO:0000303\|PubMed:9455484;Dbxref=PMID:15489334,PMID:17974005,PMID:9455484
Q5VU43	1694	1755	989	2346	Alternative sequence	ID=VSP_028780;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q5VU43	1694	1755	1695	1756	Alternative sequence	ID=VSP_028782;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9455484;Dbxref=PMID:9455484
Q5VU43	1694	1755	1	2346	Chain	ID=PRO_0000307690;Note=Myomegalin
Q5VU43	1694	1755	1736	1760	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q5VU43	1694	1755	1736	1736	Natural variant	ID=VAR_051213;Note=V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17974005;Dbxref=dbSNP:rs1778159,PMID:17974005
Q5VU43	1694	1755	1742	1742	Natural variant	ID=VAR_051214;Note=A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17974005;Dbxref=dbSNP:rs1698605,PMID:17974005
Q5VU43	1694	1755	1727	1727	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5VU43	2029	2108	174	2346	Alternative sequence	ID=VSP_028775;Note=In isoform 8 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	2029	2108	175	2346	Alternative sequence	ID=VSP_028777;Note=In isoform 9%2C isoform 10 and isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	2029	2108	954	2346	Alternative sequence	ID=VSP_059334;Note=In isoform 13. Missing
Q5VU43	2029	2108	970	2346	Alternative sequence	ID=VSP_028779;Note=In isoform 2 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:17974005,ECO:0000303\|PubMed:9455484;Dbxref=PMID:15489334,PMID:17974005,PMID:9455484
Q5VU43	2029	2108	989	2346	Alternative sequence	ID=VSP_028780;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q5VU43	2029	2108	1	2346	Chain	ID=PRO_0000307690;Note=Myomegalin
Q5VU43	2029	2108	1840	2077	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q5VU43	2029	2108	2088	2088	Sequence conflict	Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5VU43	2109	2147	174	2346	Alternative sequence	ID=VSP_028775;Note=In isoform 8 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	2109	2147	175	2346	Alternative sequence	ID=VSP_028777;Note=In isoform 9%2C isoform 10 and isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	2109	2147	954	2346	Alternative sequence	ID=VSP_059334;Note=In isoform 13. Missing
Q5VU43	2109	2147	970	2346	Alternative sequence	ID=VSP_028779;Note=In isoform 2 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:17974005,ECO:0000303\|PubMed:9455484;Dbxref=PMID:15489334,PMID:17974005,PMID:9455484
Q5VU43	2109	2147	989	2346	Alternative sequence	ID=VSP_028780;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q5VU43	2109	2147	1	2346	Chain	ID=PRO_0000307690;Note=Myomegalin
Q5VU43	2223	2271	174	2346	Alternative sequence	ID=VSP_028775;Note=In isoform 8 and isoform 11. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	2223	2271	175	2346	Alternative sequence	ID=VSP_028777;Note=In isoform 9%2C isoform 10 and isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11374908,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11374908,PMID:15489334
Q5VU43	2223	2271	954	2346	Alternative sequence	ID=VSP_059334;Note=In isoform 13. Missing
Q5VU43	2223	2271	970	2346	Alternative sequence	ID=VSP_028779;Note=In isoform 2 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:17974005,ECO:0000303\|PubMed:9455484;Dbxref=PMID:15489334,PMID:17974005,PMID:9455484
Q5VU43	2223	2271	989	2346	Alternative sequence	ID=VSP_028780;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q5VU43	2223	2271	1	2346	Chain	ID=PRO_0000307690;Note=Myomegalin

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3'-UTR located exon skipping events that lost miRNA binding sites in PDE4DIP

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 PDE4DIP

- 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 PDE4DIP

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_223206

-6.811264e-01

6.610000e-05

chr1

149010443

149010595

149012591

149012776

149016299

149016550

CDR

MSBB

IFG

exon_skip_223206

-6.516468e-01

1.723420e-04

chr1

149010443

149010595

149012591

149012776

149016299

149016550

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PDE4DIP

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 PDE4DIP

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	CNOT4	exon_skip_9275	-4.918824e-01	6.983885e-11
CB	MBNL1	exon_skip_9275	-4.362457e-01	1.250659e-08
CB	PCBP1	exon_skip_9275	-6.007564e-01	1.128096e-16
CB	PCBP2	exon_skip_9275	-4.903738e-01	8.140882e-11
CB	RBM23	exon_skip_9275	-4.924441e-01	6.595158e-11
CB	CNOT4	exon_skip_124979	-4.000331e-01	2.745793e-07
CB	PCBP4	exon_skip_124979	5.608262e-01	3.898025e-14
CB	ELAVL4	exon_skip_149538	4.961261e-01	4.519265e-11
CB	SRSF11	exon_skip_149538	5.652749e-01	1.497902e-14
CB	RBM5	exon_skip_149538	4.426860e-01	7.186916e-09
CB	HNRNPK	exon_skip_149538	5.631029e-01	1.982980e-14
CB	PCBP2	exon_skip_149538	5.667927e-01	1.229746e-14
CB	RALYL	exon_skip_149538	7.612376e-01	9.022343e-31
CB	PTBP3	exon_skip_149538	5.602582e-01	2.854661e-14
CB	HNRNPL	exon_skip_149538	4.001170e-01	2.277766e-07
CB	SRSF9	exon_skip_149538	6.261124e-01	2.324138e-18
CB	RBM6	exon_skip_257893	-4.282934e-01	1.784048e-08
CB	RBM3	exon_skip_257893	4.897966e-01	5.666788e-11
CB	PCBP4	exon_skip_257893	4.591055e-01	1.153018e-09
CB	NUP42	exon_skip_257893	4.855003e-01	8.798331e-11
CB	CNOT4	exon_skip_117498	-4.233570e-01	2.699023e-08
CB	TRA2A	exon_skip_117498	-4.660283e-01	5.996483e-10
CB	NUP42	exon_skip_117498	4.446539e-01	4.310526e-09
DLPFC	ELAVL4	exon_skip_223206	4.432025e-01	5.066444e-17
DLPFC	PTBP3	exon_skip_223206	4.122484e-01	1.004819e-14
FL	ELAVL4	exon_skip_223206	6.113172e-01	1.915436e-20
FL	HNRNPK	exon_skip_223206	4.607762e-01	3.644453e-11
FL	RALYL	exon_skip_223206	5.553920e-01	1.916143e-16
FL	HNRNPL	exon_skip_223206	4.758602e-01	6.685206e-12
FL	RBM3	exon_skip_257893	5.937245e-01	1.126072e-19
HCC	RBM6	exon_skip_223206	-6.414088e-01	1.080072e-32
HCC	SRSF11	exon_skip_223206	-5.161649e-01	8.706161e-20
HCC	RBM5	exon_skip_223206	-5.950694e-01	2.961250e-27
HCC	TRNAU1AP	exon_skip_223206	-4.535538e-01	4.187503e-15
HCC	PCBP1	exon_skip_223206	-4.326025e-01	9.691898e-14
HCC	SRSF4	exon_skip_223206	-5.978891e-01	1.464170e-27
HCC	HNRNPF	exon_skip_223206	-6.759505e-01	2.131022e-37
HCC	ZNF326	exon_skip_18932	-4.211396e-01	4.944174e-13
HCC	RBM6	exon_skip_18932	-4.249008e-01	2.916287e-13
HCC	SAMD4A	exon_skip_18932	-5.258793e-01	1.328271e-20
HCC	HNRNPA2B1	exon_skip_18932	-4.613767e-01	1.224600e-15
HCC	SRSF4	exon_skip_18932	-5.032737e-01	9.634864e-19
HCC	HNRNPF	exon_skip_18932	-4.350561e-01	6.783070e-14
IFG	PABPN1L	exon_skip_287605	-4.301401e-01	2.233050e-02
IFG	NUP42	exon_skip_287605	-4.110576e-01	2.977806e-02
IFG	PTBP3	exon_skip_287605	-4.859118e-01	8.754205e-03
IFG	PABPC4	exon_skip_287605	-4.473516e-01	1.699138e-02
IFG	TRNAU1AP	exon_skip_75070	-4.499404e-01	1.628817e-02
IFG	NUP42	exon_skip_75070	-4.171383e-01	2.721400e-02
IFG	PABPN1L	exon_skip_249817	-5.052810e-01	6.094679e-03
IFG	PTBP1	exon_skip_249817	-4.769499e-01	1.028095e-02
IFG	SRSF9	exon_skip_160711	-4.870968e-01	1.161124e-02
IFG	RBM6	exon_skip_33504	4.573314e-01	3.712022e-02
IFG	RBM6	exon_skip_223206	-6.208223e-01	4.233870e-04
IFG	RBM5	exon_skip_223206	-4.542468e-01	1.517175e-02
IFG	SAMD4A	exon_skip_18932	-4.566771e-01	1.457020e-02
IFG	RBM3	exon_skip_18932	4.692989e-01	1.175500e-02
PCC	ELAVL4	exon_skip_223206	5.600679e-01	6.656744e-19
PCC	RBM6	exon_skip_223206	-4.341232e-01	3.729578e-11
PCC	PCBP4	exon_skip_223206	-4.188516e-01	2.054115e-10
PCC	RALYL	exon_skip_223206	4.484193e-01	6.977356e-12
PCC	HNRNPF	exon_skip_223206	-5.287462e-01	1.145289e-16
PCC	SAMD4A	exon_skip_257893	-5.566808e-01	1.736048e-18
PCC	HNRNPF	exon_skip_257893	-4.459598e-01	1.173989e-11
PG	ELAVL4	exon_skip_223206	8.233619e-01	2.064549e-45
PG	SRSF11	exon_skip_223206	4.884265e-01	4.035049e-12
PG	MBNL1	exon_skip_223206	5.118001e-01	2.442282e-13
PG	PCBP1	exon_skip_223206	5.405937e-01	5.670304e-15
PG	HNRNPK	exon_skip_223206	6.006868e-01	6.192560e-19
PG	RALYL	exon_skip_223206	7.625035e-01	2.639597e-35
PG	HNRNPL	exon_skip_223206	6.137767e-01	6.527638e-20
PG	SRSF9	exon_skip_223206	4.354197e-01	1.119366e-09
PG	NOVA1	exon_skip_223206	6.320004e-01	2.378398e-21
PG	SRSF2	exon_skip_257893	4.719205e-01	6.359330e-11
PG	SRSF11	exon_skip_257893	4.763307e-01	3.984881e-11
PG	SAMD4A	exon_skip_257893	-4.031723e-01	4.168889e-08
PG	RBM3	exon_skip_257893	6.807639e-01	9.285228e-25
PG	ILF2	exon_skip_257893	4.348934e-01	2.501591e-09
PG	HNRNPK	exon_skip_257893	4.882646e-01	1.087363e-11
PG	NUP42	exon_skip_257893	4.267422e-01	5.300768e-09
PG	NOVA1	exon_skip_257893	4.190317e-01	1.059180e-08
STG	PTBP1	exon_skip_287605	-4.652442e-01	3.376029e-06
STG	PTBP1	exon_skip_75070	-4.354778e-01	1.602324e-05
STG	PTBP1	exon_skip_249817	-5.288897e-01	7.076474e-08
STG	RC3H1	exon_skip_132670	-4.084683e-01	6.423030e-05
STG	RBM4B	exon_skip_132670	-4.130283e-01	5.215756e-05
STG	ELAVL4	exon_skip_223206	6.993002e-01	1.375096e-13
STG	PCBP1	exon_skip_223206	4.397717e-01	2.844878e-05
STG	HNRNPK	exon_skip_223206	5.404394e-01	1.118644e-07
STG	RALYL	exon_skip_223206	6.121029e-01	6.153431e-10
STG	PTBP3	exon_skip_223206	4.135314e-01	9.236605e-05
STG	HNRNPL	exon_skip_223206	5.084753e-01	7.890529e-07
STG	SRSF9	exon_skip_223206	4.530326e-01	1.510547e-05
STG	NOVA1	exon_skip_223206	4.100437e-01	1.072429e-04
STG	RBM3	exon_skip_257893	5.356748e-01	1.516203e-07
TC	ELAVL4	exon_skip_223206	8.675472e-01	7.082036e-49
TC	MBNL1	exon_skip_223206	4.660675e-01	7.678759e-10
TC	HNRNPK	exon_skip_223206	4.396833e-01	8.343665e-09
TC	RALYL	exon_skip_223206	8.865366e-01	9.397268e-54
TC	PTBP3	exon_skip_223206	5.254032e-01	1.607257e-12
TC	HNRNPL	exon_skip_223206	4.789512e-01	2.220421e-10
TC	SRSF9	exon_skip_223206	4.613830e-01	1.190518e-09
TC	SRSF5	exon_skip_223206	4.751331e-01	3.224509e-10
TC	NOVA1	exon_skip_223206	6.604382e-01	4.968282e-21
TC	SRSF2	exon_skip_31544	5.057814e-01	1.411499e-11
TC	RBM6	exon_skip_31544	-4.256097e-01	2.747524e-08
TC	SAMD4A	exon_skip_31544	-4.438899e-01	5.781247e-09
TC	RBM3	exon_skip_31544	6.669779e-01	1.478417e-21
TC	NUP42	exon_skip_31544	4.938829e-01	4.934531e-11
TC	ESRP1	exon_skip_31544	4.263267e-01	2.589043e-08
TC	NOVA1	exon_skip_31544	4.918999e-01	6.050847e-11

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RelatedDrugs for PDE4DIP

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 PDE4DIP

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 PDE4DIP

Gene structures and expression levels for PDE4DIP

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for PDE4DIP

Open reading frame (ORF) annotation in the exon skipping event for PDE4DIP

Infer the effects of exon skipping event on protein functional features for PDE4DIP

3'-UTR located exon skipping events that lost miRNA binding sites in PDE4DIP

SNVs in the skipped exons for PDE4DIP

AD stage-associated exon skippint events for PDE4DIP

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PDE4DIP

Correlation with RNA binding proteins (RBPs) for PDE4DIP

RelatedDrugs for PDE4DIP

RelatedDiseases for PDE4DIP