ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for DNM2

Gene summary

Gene information	Gene symbol	DNM2
	Gene ID	1785
	Gene name	dynamin 2
	Synonyms	CMT2M\|CMTDI1\|CMTDIB\|DI-CMTB\|DYN2\|DYNII\|LCCS5
	Cytomap	19p13.2
	Type of gene	protein-coding
	Description	dynamin-2dynamin II
	Modification date	20180527
	UniProtAcc	P50570
	Context	PubMed: DNM2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID)

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

Gene	GO ID	GO term	PubMed ID
DNM2	GO:1903526	negative regulation of membrane tubulation	18388313

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Exon skipping events across known transcript of Ensembl for DNM2 from UCSC genome browser

Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for DNM2

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

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Exon skipping events with PSIs in TCGA for DNM2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_302230	19	10828883:10829079:10870413:10870487:10883154:10883183	10870413:10870487	ENSG00000079805.12	ENST00000355667.6,ENST00000389253.4,ENST00000314646.5,ENST00000408974.4,ENST00000359692.6
exon_skip_302231	19	10870413:10870487:10883154:10883304:10886378:10886491	10883154:10883304	ENSG00000079805.12	ENST00000355667.6,ENST00000389253.4,ENST00000314646.5,ENST00000408974.4,ENST00000585892.1,ENST00000586939.1,ENST00000359692.6
exon_skip_302233	19	10883154:10883304:10886378:10886582:10887793:10887830	10886378:10886582	ENSG00000079805.12	ENST00000355667.6,ENST00000389253.4,ENST00000591819.1,ENST00000314646.5,ENST00000408974.4,ENST00000585892.1,ENST00000586939.1,ENST00000359692.6
exon_skip_302235	19	10887844:10887892:10893635:10893796:10897239:10897382	10893635:10893796	ENSG00000079805.12	ENST00000355667.6,ENST00000389253.4,ENST00000314646.5,ENST00000408974.4,ENST00000585892.1,ENST00000359692.6,ENST00000591701.1
exon_skip_302236	19	10893691:10893796:10897239:10897382:10904395:10904427	10897239:10897382	ENSG00000079805.12	ENST00000587830.2,ENST00000355667.6,ENST00000587485.1,ENST00000389253.4,ENST00000314646.5,ENST00000408974.4,ENST00000585892.1,ENST00000359692.6,ENST00000591701.1
exon_skip_302239	19	10897239:10897382:10904395:10904531:10906047:10906115	10904395:10904531	ENSG00000079805.12	ENST00000587830.2,ENST00000355667.6,ENST00000389253.4,ENST00000314646.5,ENST00000408974.4,ENST00000585892.1,ENST00000359692.6,ENST00000591701.1
exon_skip_302250	19	10906047:10906115:10906736:10906875:10909161:10909238	10906736:10906875	ENSG00000079805.12	ENST00000355667.6,ENST00000585892.1,ENST00000359692.6
exon_skip_302253	19	10906047:10906115:10908055:10908194:10909161:10909238	10908055:10908194	ENSG00000079805.12	ENST00000587830.2,ENST00000389253.4,ENST00000314646.5,ENST00000408974.4
exon_skip_302261	19	10906736:10906875:10909161:10909248:10912963:10913034	10909161:10909248	ENSG00000079805.12	ENST00000355667.6,ENST00000585892.1,ENST00000359692.6
exon_skip_302263	19	10909161:10909248:10912963:10913034:10916591:10916643	10912963:10913034	ENSG00000079805.12	ENST00000355667.6,ENST00000389253.4,ENST00000314646.5,ENST00000408974.4,ENST00000585892.1,ENST00000359692.6
exon_skip_302269	19	10912963:10913034:10914314:10914344:10916591:10916643	10914314:10914344	ENSG00000079805.12	ENST00000587830.2
exon_skip_302271	19	10912963:10913034:10916591:10916643:10922939:10922976	10916591:10916643	ENSG00000079805.12	ENST00000408974.4,ENST00000359692.6
exon_skip_302276	19	10916591:10916643:10919244:10919256:10922939:10922976	10919244:10919256	ENSG00000079805.12	ENST00000355667.6,ENST00000389253.4,ENST00000585892.1
exon_skip_302278	19	10916591:10916643:10922428:10922440:10922939:10923053	10922428:10922440	ENSG00000079805.12	ENST00000314646.5
exon_skip_302279	19	10916591:10916643:10922939:10923053:10930655:10930765	10922939:10923053	ENSG00000079805.12	ENST00000408974.4,ENST00000359692.6
exon_skip_302287	19	10919244:10919256:10922939:10923053:10930655:10930765	10922939:10923053	ENSG00000079805.12	ENST00000355667.6,ENST00000389253.4,ENST00000585892.1
exon_skip_302292	19	10930655:10930765:10934463:10934575:10935732:10935897	10934463:10934575	ENSG00000079805.12	ENST00000355667.6,ENST00000389253.4,ENST00000314646.5,ENST00000408974.4,ENST00000590806.1,ENST00000585892.1,ENST00000359692.6
exon_skip_302295	19	10934463:10934575:10935732:10935897:10939711:10939944	10935732:10935897	ENSG00000079805.12	ENST00000355667.6,ENST00000389253.4,ENST00000314646.5,ENST00000593203.1,ENST00000408974.4,ENST00000590806.1,ENST00000585892.1,ENST00000359692.6

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for DNM2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_302230	19	10828883:10829079:10870413:10870487:10883154:10883183	10870413:10870487	ENSG00000079805.12	ENST00000314646.5,ENST00000359692.6,ENST00000389253.4,ENST00000355667.6,ENST00000408974.4
exon_skip_302231	19	10870413:10870487:10883154:10883304:10886378:10886491	10883154:10883304	ENSG00000079805.12	ENST00000585892.1,ENST00000314646.5,ENST00000359692.6,ENST00000389253.4,ENST00000355667.6,ENST00000408974.4,ENST00000586939.1
exon_skip_302235	19	10887844:10887892:10893635:10893796:10897239:10897382	10893635:10893796	ENSG00000079805.12	ENST00000585892.1,ENST00000314646.5,ENST00000359692.6,ENST00000389253.4,ENST00000355667.6,ENST00000408974.4,ENST00000591701.1
exon_skip_302236	19	10893691:10893796:10897239:10897382:10904395:10904427	10897239:10897382	ENSG00000079805.12	ENST00000585892.1,ENST00000314646.5,ENST00000359692.6,ENST00000389253.4,ENST00000355667.6,ENST00000408974.4,ENST00000591701.1,ENST00000587485.1,ENST00000587830.2
exon_skip_302239	19	10897239:10897382:10904395:10904531:10906047:10906115	10904395:10904531	ENSG00000079805.12	ENST00000585892.1,ENST00000314646.5,ENST00000359692.6,ENST00000389253.4,ENST00000355667.6,ENST00000408974.4,ENST00000591701.1,ENST00000587830.2
exon_skip_302250	19	10906047:10906115:10906736:10906875:10909161:10909238	10906736:10906875	ENSG00000079805.12	ENST00000585892.1,ENST00000359692.6,ENST00000355667.6
exon_skip_302253	19	10906047:10906115:10908055:10908194:10909161:10909238	10908055:10908194	ENSG00000079805.12	ENST00000314646.5,ENST00000389253.4,ENST00000408974.4,ENST00000587830.2
exon_skip_302261	19	10906736:10906875:10909161:10909248:10912963:10913034	10909161:10909248	ENSG00000079805.12	ENST00000585892.1,ENST00000359692.6,ENST00000355667.6
exon_skip_302263	19	10909161:10909248:10912963:10913034:10916591:10916643	10912963:10913034	ENSG00000079805.12	ENST00000585892.1,ENST00000314646.5,ENST00000359692.6,ENST00000389253.4,ENST00000355667.6,ENST00000408974.4
exon_skip_302269	19	10912963:10913034:10914314:10914344:10916591:10916643	10914314:10914344	ENSG00000079805.12	ENST00000587830.2
exon_skip_302271	19	10912963:10913034:10916591:10916643:10922939:10922976	10916591:10916643	ENSG00000079805.12	ENST00000359692.6,ENST00000408974.4
exon_skip_302276	19	10916591:10916643:10919244:10919256:10922939:10922976	10919244:10919256	ENSG00000079805.12	ENST00000585892.1,ENST00000389253.4,ENST00000355667.6
exon_skip_302278	19	10916591:10916643:10922428:10922440:10922939:10923053	10922428:10922440	ENSG00000079805.12	ENST00000314646.5
exon_skip_302279	19	10916591:10916643:10922939:10923053:10930655:10930765	10922939:10923053	ENSG00000079805.12	ENST00000359692.6,ENST00000408974.4
exon_skip_302287	19	10919244:10919256:10922939:10923053:10930655:10930765	10922939:10923053	ENSG00000079805.12	ENST00000585892.1,ENST00000389253.4,ENST00000355667.6
exon_skip_302292	19	10930655:10930765:10934463:10934575:10935732:10935897	10934463:10934575	ENSG00000079805.12	ENST00000585892.1,ENST00000314646.5,ENST00000359692.6,ENST00000389253.4,ENST00000355667.6,ENST00000408974.4,ENST00000590806.1
exon_skip_302295	19	10934463:10934575:10935732:10935897:10939711:10939944	10935732:10935897	ENSG00000079805.12	ENST00000585892.1,ENST00000314646.5,ENST00000359692.6,ENST00000389253.4,ENST00000355667.6,ENST00000408974.4,ENST00000590806.1,ENST00000593203.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for DNM2

Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000355667	10870413	10870487	Frame-shift
ENST00000355667	10893635	10893796	Frame-shift
ENST00000355667	10897239	10897382	Frame-shift
ENST00000355667	10904395	10904531	Frame-shift
ENST00000355667	10906736	10906875	Frame-shift
ENST00000355667	10912963	10913034	Frame-shift
ENST00000355667	10934463	10934575	Frame-shift
ENST00000355667	10883154	10883304	In-frame
ENST00000355667	10886378	10886582	In-frame
ENST00000355667	10909161	10909248	In-frame
ENST00000355667	10919244	10919256	In-frame
ENST00000355667	10922939	10923053	In-frame
ENST00000355667	10935732	10935897	In-frame

Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000355667	10870413	10870487	Frame-shift
ENST00000355667	10893635	10893796	Frame-shift
ENST00000355667	10897239	10897382	Frame-shift
ENST00000355667	10904395	10904531	Frame-shift
ENST00000355667	10906736	10906875	Frame-shift
ENST00000355667	10912963	10913034	Frame-shift
ENST00000355667	10934463	10934575	Frame-shift
ENST00000355667	10883154	10883304	In-frame
ENST00000355667	10909161	10909248	In-frame
ENST00000355667	10919244	10919256	In-frame
ENST00000355667	10922939	10923053	In-frame
ENST00000355667	10935732	10935897	In-frame

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Infer the effects of exon skipping event on protein functional features for DNM2

Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.

Loci of skipped exons in TCGA 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
ENST00000355667	3558	870	10883154	10883304	316	465	78	128
ENST00000355667	3558	870	10886378	10886582	466	669	128	196
ENST00000355667	3558	870	10909161	10909248	1416	1502	445	474
ENST00000355667	3558	870	10922939	10923053	1638	1751	519	557
ENST00000355667	3558	870	10935732	10935897	1974	2138	631	686

Loci of skipped exons in GTEx 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
ENST00000355667	3558	870	10883154	10883304	316	465	78	128
ENST00000355667	3558	870	10909161	10909248	1416	1502	445	474
ENST00000355667	3558	870	10922939	10923053	1638	1751	519	557
ENST00000355667	3558	870	10935732	10935897	1974	2138	631	686

Lost protein functional features of individual exon skipping events in TCGA.

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
P50570	78	128	1	870	Chain	ID=PRO_0000206570;Note=Dynamin-2
P50570	78	128	28	294	Domain	Note=Dynamin-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01055
P50570	128	196	1	870	Chain	ID=PRO_0000206570;Note=Dynamin-2
P50570	128	196	28	294	Domain	Note=Dynamin-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01055
P50570	128	196	136	139	Region	Note=G3 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01055
P50570	128	196	155	156	Sequence conflict	Note=QI->RV;Ontology_term=ECO:0000305;evidence=ECO:0000305
P50570	445	474	1	870	Chain	ID=PRO_0000206570;Note=Dynamin-2
P50570	445	474	465	465	Natural variant	ID=VAR_031965;Note=In CNM1%3B reduced association with the centrosome%3B COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:16227997,ECO:0
P50570	519	557	516	519	Alternative sequence	ID=VSP_001325;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:7590285;Dbxref=PMID:14702039,PMID:15489334,PMID:7590285
P50570	519	557	522	530	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YS1
P50570	519	557	533	535	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YS1
P50570	519	557	540	545	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YS1
P50570	519	557	550	555	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YS1
P50570	519	557	1	870	Chain	ID=PRO_0000206570;Note=Dynamin-2
P50570	519	557	519	625	Domain	Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00145
P50570	519	557	522	522	Natural variant	ID=VAR_068366;Note=In CNM1. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22396310;Dbxref=PMID:22396310
P50570	519	557	522	522	Natural variant	ID=VAR_068367;Note=In CNM1. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20227276;Dbxref=dbSNP:rs587783595,PMID:20227276
P50570	519	557	523	523	Natural variant	ID=VAR_068368;Note=In CNM1. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22396310;Dbxref=dbSNP:rs587783596,PMID:22396310
P50570	519	557	537	537	Natural variant	ID=VAR_062574;Note=In CMT2M. G->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17636067;Dbxref=dbSNP:rs121909093,PMID:17636067
P50570	519	557	555	557	Natural variant	ID=VAR_031966;Note=In CMTDIB%3B may affect binding to vesicles and membranes in favor of binding to microtubules%3B may affect receptor-mediated endocytosis. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15731758;Dbxref=PMID:15731758
P50570	631	686	1	870	Chain	ID=PRO_0000206570;Note=Dynamin-2
P50570	631	686	653	744	Domain	Note=GED;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00720
P50570	631	686	650	650	Natural variant	ID=VAR_062576;Note=In CNM1%3B COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19623537;Dbxref=PMID:19623537

Lost protein functional features of individual exon skipping events in GTEx.

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
P50570	78	128	1	870	Chain	ID=PRO_0000206570;Note=Dynamin-2
P50570	78	128	28	294	Domain	Note=Dynamin-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01055
P50570	445	474	1	870	Chain	ID=PRO_0000206570;Note=Dynamin-2
P50570	445	474	465	465	Natural variant	ID=VAR_031965;Note=In CNM1%3B reduced association with the centrosome%3B COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:16227997,ECO:0
P50570	519	557	516	519	Alternative sequence	ID=VSP_001325;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:7590285;Dbxref=PMID:14702039,PMID:15489334,PMID:7590285
P50570	519	557	522	530	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YS1
P50570	519	557	533	535	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YS1
P50570	519	557	540	545	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YS1
P50570	519	557	550	555	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YS1
P50570	519	557	1	870	Chain	ID=PRO_0000206570;Note=Dynamin-2
P50570	519	557	519	625	Domain	Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00145
P50570	519	557	522	522	Natural variant	ID=VAR_068366;Note=In CNM1. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22396310;Dbxref=PMID:22396310
P50570	519	557	522	522	Natural variant	ID=VAR_068367;Note=In CNM1. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20227276;Dbxref=dbSNP:rs587783595,PMID:20227276
P50570	519	557	523	523	Natural variant	ID=VAR_068368;Note=In CNM1. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22396310;Dbxref=dbSNP:rs587783596,PMID:22396310
P50570	519	557	537	537	Natural variant	ID=VAR_062574;Note=In CMT2M. G->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17636067;Dbxref=dbSNP:rs121909093,PMID:17636067
P50570	519	557	555	557	Natural variant	ID=VAR_031966;Note=In CMTDIB%3B may affect binding to vesicles and membranes in favor of binding to microtubules%3B may affect receptor-mediated endocytosis. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15731758;Dbxref=PMID:15731758
P50570	631	686	1	870	Chain	ID=PRO_0000206570;Note=Dynamin-2
P50570	631	686	653	744	Domain	Note=GED;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00720
P50570	631	686	650	650	Natural variant	ID=VAR_062576;Note=In CNM1%3B COS7 cells show a reduced uptake of transferrin and low-density lipoprotein complex. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19623537;Dbxref=PMID:19623537

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SNVs in the skipped exons for DNM2

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-G3-A3CJ-01	exon_skip_302230	10870414	10870487	10870424	10870424	Frame_Shift_Del	C	-	p.P58fs
LIHC	TCGA-DD-A39Y-01	exon_skip_302230	10870414	10870487	10870480	10870480	Frame_Shift_Del	A	-	p.S76fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_302239	10904396	10904531	10904509	10904509	Frame_Shift_Del	G	-	p.R369fs
LIHC	TCGA-DD-A3A0-01	exon_skip_302239	10904396	10904531	10904513	10904513	Frame_Shift_Del	C	-	p.F370fs
LIHC	TCGA-DD-A3A0-01	exon_skip_302250	10906737	10906875	10906801	10906801	Frame_Shift_Del	A	-	p.K421fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_302253	10908056	10908194	10908176	10908176	Frame_Shift_Del	A	-	p.I439fs
UCEC	TCGA-BG-A0M4-01	exon_skip_302261	10909162	10909248	10909173	10909173	Frame_Shift_Del	C	-	p.Y449fs
STAD	TCGA-HU-A4H5-01	exon_skip_302235	10893636	10893796	10893683	10893683	Nonsense_Mutation	A	T	p.K246*
STAD	TCGA-HU-A4H5-01	exon_skip_302235	10893636	10893796	10893683	10893683	Nonsense_Mutation	A	T	p.K246X
BLCA	TCGA-4Z-AA7Q-01	exon_skip_302236	10897240	10897382	10897324	10897324	Nonsense_Mutation	G	T	p.E312*
LGG	TCGA-DU-6392-01	exon_skip_302239	10904396	10904531	10904445	10904445	Nonsense_Mutation	G	T	p.G348*
LUSC	TCGA-60-2713-01	exon_skip_302239	10904396	10904531	10904484	10904484	Nonsense_Mutation	C	T	p.R361*
UCEC	TCGA-AP-A051-01	exon_skip_302250	10906737	10906875	10906804	10906804	Nonsense_Mutation	G	T	p.E422*
BLCA	TCGA-HQ-A5NE-01	exon_skip_302271	10916592	10916643	10916641	10916641	Nonsense_Mutation	C	T	p.Q515*
COAD	TCGA-AD-5900-01	exon_skip_302292	10934464	10934575	10934546	10934546	Nonsense_Mutation	C	T	p.R622X
STAD	TCGA-HU-A4GC-01	exon_skip_302292	10934464	10934575	10934546	10934546	Nonsense_Mutation	C	T	p.R622*
STAD	TCGA-HU-A4GC-01	exon_skip_302292	10934464	10934575	10934546	10934546	Nonsense_Mutation	C	T	p.R622X
HNSC	TCGA-CR-7368-01	exon_skip_302235	10893636	10893796	10893634	10893635	Splice_Site	-	GGCTACATT	p.G230_splice

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons	Mutation description
	Sample: TCGA-G3-A3CJ-01
	Cancer type: LIHC
	ESID: exon_skip_302230
	Skipped exon start: 10870414
	Skipped exon end: 10870487
	Mutation start: 10870424
	Mutation end: 10870424
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.P58fs
	Sample: TCGA-G3-A3CJ-01
	Cancer type: LIHC
	ESID: exon_skip_302239
	Skipped exon start: 10904396
	Skipped exon end: 10904531
	Mutation start: 10904509
	Mutation end: 10904509
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.R369fs
	Sample: TCGA-G3-A3CJ-01
	Cancer type: LIHC
	ESID: exon_skip_302253
	Skipped exon start: 10908056
	Skipped exon end: 10908194
	Mutation start: 10908176
	Mutation end: 10908176
	Mutation type: Frame_Shift_Del
	Reference seq: A
	Mutation seq: -
	AAchange: p.I439fs
exon_skip_101516_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_106378_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_106524_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_109529_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_109778_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11286_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11289_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11349_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_113894_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_113898_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11611_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11615_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11638_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11641_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11926_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11933_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11937_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11939_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_124065_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_124066_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_124693_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_126824_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_126833_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_126836_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1268_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1270_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_127101_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1274_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_128729_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_129795_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_129799_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_131401_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_131474_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_135545_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_135553_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_13626_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_138373_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_138676_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_141657_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_143515_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_143728_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_14564_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_149490_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_153354_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1873_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1874_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_24442_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_284510_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_289275_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_289905_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_291218_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_293221_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_293223_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_300058_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_300676_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_302253_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_302693_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_305815_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_30789_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_30792_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_309404_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_309486_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_309505_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_309539_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_311823_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_313290_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_315285_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_315286_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_316122_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_325693_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_327441_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_327550_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_329666_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_329933_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_331517_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_354387_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_354396_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_356468_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_365019_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_365023_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_371589_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_375393_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_380574_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_382000_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_382738_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_385031_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_387684_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_421130_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_421131_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_421134_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_426528_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_426530_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_427391_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_430528_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_433436_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_433655_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_434375_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_43567_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_436327_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_436618_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_444593_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_445559_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_447600_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_452739_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_4535_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_457245_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_45824_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_464169_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_464999_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_466343_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_467017_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_468347_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_470485_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_478117_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_483502_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_483618_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_483622_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_492152_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_499409_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_502144_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_504288_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_504556_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_506095_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_506097_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_507316_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_507513_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_55516_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_57597_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_57603_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_5818_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_5861_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_58894_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_59476_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_60476_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_67293_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_67402_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_69019_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_71100_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_73796_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_84528_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_86050_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_86051_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_86135_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_87721_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_93891_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_94866_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_96453_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_98550_LIHC_TCGA-G3-A3CJ-01.png
	Sample: TCGA-AP-A051-01
	Cancer type: UCEC
	ESID: exon_skip_302250
	Skipped exon start: 10906737
	Skipped exon end: 10906875
	Mutation start: 10906804
	Mutation end: 10906804
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: T
	AAchange: p.E422*
exon_skip_10586_UCEC_TCGA-AP-A051-01.png
exon_skip_135209_UCEC_TCGA-AP-A051-01.png
exon_skip_135211_UCEC_TCGA-AP-A051-01.png
exon_skip_27178_UCEC_TCGA-AP-A051-01.png
exon_skip_283774_UCEC_TCGA-AP-A051-01.png
exon_skip_287523_UCEC_TCGA-AP-A051-01.png
exon_skip_302250_UCEC_TCGA-AP-A051-01.png
exon_skip_325639_UCEC_TCGA-AP-A051-01.png
exon_skip_368273_UCEC_TCGA-AP-A051-01.png
exon_skip_511022_UCEC_TCGA-AP-A051-01.png
exon_skip_514511_UCEC_TCGA-AP-A051-01.png
exon_skip_585_UCEC_TCGA-AP-A051-01.png

- 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
LNZTA3WT4_CENTRAL_NERVOUS_SYSTEM	10870414	10870487	10870451	10870451	Missense_Mutation	C	T	p.R67W
NCIH64_LUNG	10883155	10883304	10883212	10883212	Missense_Mutation	G	C	p.R98P
SKMEL28_SKIN	10883155	10883304	10883239	10883239	Missense_Mutation	G	A	p.R107K
NB1643_AUTONOMIC_GANGLIA	10886379	10886582	10886432	10886432	Missense_Mutation	G	A	p.D147N
KM12_LARGE_INTESTINE	10886379	10886582	10886451	10886451	Missense_Mutation	A	G	p.E153G
KU812_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	10886379	10886582	10886577	10886577	Missense_Mutation	C	T	p.P195L
SCLC22H_LUNG	10893636	10893796	10893656	10893656	Missense_Mutation	C	T	p.R237C
SCLC21H_LUNG	10893636	10893796	10893656	10893656	Missense_Mutation	C	T	p.R237C
SNU1040_LARGE_INTESTINE	10893636	10893796	10893657	10893657	Missense_Mutation	G	A	p.R237H
HEC59_ENDOMETRIUM	10893636	10893796	10893750	10893750	Missense_Mutation	T	C	p.M268T
DIFI_LARGE_INTESTINE	10893636	10893796	10893768	10893768	Missense_Mutation	C	T	p.T274M
NALM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	10893636	10893796	10893786	10893786	Missense_Mutation	C	T	p.T280M
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	10897240	10897382	10897247	10897247	Missense_Mutation	C	A	p.T286N
639V_URINARY_TRACT	10904396	10904531	10904494	10904494	Missense_Mutation	G	A	p.R364H
CL34_LARGE_INTESTINE	10904396	10904531	10904494	10904494	Missense_Mutation	G	A	p.R364H
PANC0327_PANCREAS	10906737	10906875	10906754	10906754	Missense_Mutation	C	T	p.P405L
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	10906737	10906875	10906825	10906825	Missense_Mutation	G	T	p.D429Y
HCT116_LARGE_INTESTINE	10906737	10906875	10906835	10906835	Missense_Mutation	T	C	p.I432T
SNU899_UPPER_AERODIGESTIVE_TRACT	10909162	10909248	10909178	10909178	Missense_Mutation	G	A	p.R451Q
ST486_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	10909162	10909248	10909226	10909226	Missense_Mutation	G	A	p.R467Q
MZ7MEL_SKIN	10909162	10909248	10909228	10909228	Missense_Mutation	G	A	p.E468K
RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	10912964	10913034	10912967	10912967	Missense_Mutation	C	A	p.L476I
OC316_OVARY	10916592	10916643	10916609	10916609	Missense_Mutation	C	T	p.T504M
OC314_OVARY	10916592	10916643	10916609	10916609	Missense_Mutation	C	T	p.T504M
GP2D_LARGE_INTESTINE	10922940	10923053	10922947	10922947	Missense_Mutation	G	A	p.R522H
GP5D_LARGE_INTESTINE	10922940	10923053	10922947	10922947	Missense_Mutation	G	A	p.R522H
MFE319_ENDOMETRIUM	10922940	10923053	10922949	10922949	Missense_Mutation	A	G	p.R523G
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	10922940	10923053	10922979	10922979	Missense_Mutation	C	A	p.L533M
MM383_SKIN	10922940	10923053	10923034	10923035	Missense_Mutation	CC	TT	p.S551F
HH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	10934464	10934575	10934534	10934534	Missense_Mutation	G	A	p.A618T
RCCER_KIDNEY	10934464	10934575	10934553	10934553	Missense_Mutation	G	C	p.G624A
JIMT1_BREAST	10935733	10935897	10935808	10935808	Missense_Mutation	C	T	p.R657C
SNU1040_LARGE_INTESTINE	10935733	10935897	10935809	10935809	Missense_Mutation	G	A	p.R657H
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	10935733	10935897	10935812	10935812	Missense_Mutation	A	G	p.N658S
ALLSIL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	10904396	10904531	10904484	10904484	Nonsense_Mutation	C	T	p.R361*
BICR31_UPPER_AERODIGESTIVE_TRACT	10934464	10934575	10934529	10934529	Nonsense_Mutation	G	A	p.W616*
D336MG_CENTRAL_NERVOUS_SYSTEM	10893636	10893796	10893795	10893795	Splice_Site	A	G	p.Q283R

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DNM2

sQTL information located at the skipped exons.

Exon skip ID

Chromosome

Three exons

Skippped exon

ENST

Cancer type

SNP id

Location

DNA change (ref/var)

P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DNM2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DNM2

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RelatedDrugs for DNM2

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for DNM2

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
DNM2	C1834558	Myopathy, Centronuclear, Autosomal Dominant	9	CTD_human;ORPHANET;UNIPROT
DNM2	C1847902	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)	4	CTD_human;ORPHANET;UNIPROT
DNM2	C0752282	Congenital Structural Myopathy	1	CTD_human
DNM2	C3809272	LETHAL CONGENITAL CONTRACTURE SYNDROME 5	1	ORPHANET;UNIPROT

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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