ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for DSC2

Gene summary

Gene information	Gene symbol	DSC2
	Gene ID	1824
	Gene name	desmocollin 2
	Synonyms	ARVD11\|CDHF2\|DG2\|DGII/III\|DSC3
	Cytomap	18q12.1
	Type of gene	protein-coding
	Description	desmocollin-2cadherin family member 2desmosomal glycoprotein II/III
	Modification date	20180519
	UniProtAcc	Q02487
	Context	PubMed: DSC2 [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

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Exon skipping events across known transcript of Ensembl for DSC2 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 DSC2

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 DSC2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_298701	18	28646006:28648178:28648264:28648310:28648859:28648938	28648264:28648310	ENSG00000134755.10	ENST00000251081.6
exon_skip_298704	18	28650691:28650816:28651570:28651807:28654648:28654873	28651570:28651807	ENSG00000134755.10	ENST00000251081.6,ENST00000280904.6
exon_skip_298707	18	28651570:28651807:28654648:28654873:28659812:28659955	28654648:28654873	ENSG00000134755.10	ENST00000251081.6,ENST00000280904.6
exon_skip_298708	18	28660061:28660318:28662203:28662389:28662891:28663026	28662203:28662389	ENSG00000134755.10	ENST00000251081.6,ENST00000280904.6
exon_skip_298709	18	28662203:28662389:28662891:28663026:28666538:28666705	28662891:28663026	ENSG00000134755.10	ENST00000251081.6,ENST00000280904.6
exon_skip_298712	18	28669401:28669557:28670990:28671110:28672063:28672263	28670990:28671110	ENSG00000134755.10	ENST00000251081.6,ENST00000280904.6

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for DSC2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_298701	18	28646006:28648178:28648264:28648310:28648859:28648938	28648264:28648310	ENSG00000134755.10	ENST00000251081.6
exon_skip_298704	18	28650691:28650816:28651570:28651807:28654648:28654873	28651570:28651807	ENSG00000134755.10	ENST00000251081.6,ENST00000280904.6
exon_skip_298707	18	28651570:28651807:28654648:28654873:28659812:28659955	28654648:28654873	ENSG00000134755.10	ENST00000251081.6,ENST00000280904.6
exon_skip_298709	18	28662203:28662389:28662891:28663026:28666538:28666705	28662891:28663026	ENSG00000134755.10	ENST00000251081.6,ENST00000280904.6

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 DSC2

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
ENST00000280904	28651570	28651807	In-frame
ENST00000280904	28654648	28654873	In-frame
ENST00000280904	28662203	28662389	In-frame
ENST00000280904	28662891	28663026	In-frame
ENST00000280904	28670990	28671110	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
ENST00000280904	28651570	28651807	In-frame
ENST00000280904	28654648	28654873	In-frame
ENST00000280904	28662891	28663026	In-frame

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Infer the effects of exon skipping event on protein functional features for DSC2

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
ENST00000280904	5141	901	28670990	28671110	799	918	118	158
ENST00000280904	5141	901	28662891	28663026	1387	1521	314	359
ENST00000280904	5141	901	28662203	28662389	1522	1707	359	421
ENST00000280904	5141	901	28654648	28654873	2108	2332	554	629
ENST00000280904	5141	901	28651570	28651807	2333	2569	629	708

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
ENST00000280904	5141	901	28662891	28663026	1387	1521	314	359
ENST00000280904	5141	901	28654648	28654873	2108	2332	554	629
ENST00000280904	5141	901	28651570	28651807	2333	2569	629	708

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
Q02487	118	158	142	147	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5J5J
Q02487	118	158	152	158	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5J5J
Q02487	118	158	136	901	Chain	ID=PRO_0000003870;Note=Desmocollin-2
Q02487	118	158	136	243	Domain	Note=Cadherin 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00043
Q02487	118	158	28	135	Propeptide	ID=PRO_0000003869;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q02487	118	158	136	694	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q02487	314	359	318	327	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	314	359	336	346	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	314	359	354	365	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	314	359	136	901	Chain	ID=PRO_0000003870;Note=Desmocollin-2
Q02487	314	359	244	355	Domain	Note=Cadherin 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00043
Q02487	314	359	356	471	Domain	Note=Cadherin 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00043
Q02487	314	359	328	330	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	314	359	340	340	Natural variant	ID=VAR_065690;Note=In ARVD11. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19863551;Dbxref=dbSNP:rs368299411,PMID:19863551
Q02487	314	359	358	358	Natural variant	ID=VAR_062391;Note=T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18678517;Dbxref=dbSNP:rs139399951,PMID:18678517
Q02487	314	359	136	694	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q02487	314	359	313	315	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	359	421	354	365	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	359	421	370	376	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	359	421	390	398	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	359	421	404	408	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	359	421	415	419	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	359	421	136	901	Chain	ID=PRO_0000003870;Note=Desmocollin-2
Q02487	359	421	356	471	Domain	Note=Cadherin 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00043
Q02487	359	421	392	392	Glycosylation	Note=N-linked (GlcNAc...) (complex) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:16740002,ECO:0000269\|PubMed:19139490;Dbxref=PMID:16740002,PMID:19139490
Q02487	359	421	364	364	Natural variant	ID=VAR_078340;Note=In ARVD11. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28256248;Dbxref=PMID:28256248
Q02487	359	421	136	694	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q02487	359	421	387	389	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	359	421	410	412	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	554	629	558	568	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	554	629	590	595	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	554	629	609	611	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	554	629	624	636	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	554	629	136	901	Chain	ID=PRO_0000003870;Note=Desmocollin-2
Q02487	554	629	472	579	Domain	Note=Cadherin 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00043
Q02487	554	629	580	694	Domain	Note=Cadherin 5;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00043
Q02487	554	629	629	629	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16740002;Dbxref=PMID:16740002
Q02487	554	629	602	604	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	554	629	596	596	Natural variant	ID=VAR_065691;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20031617;Dbxref=dbSNP:rs148185335,PMID:20031617
Q02487	554	629	136	694	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q02487	554	629	586	588	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	554	629	617	622	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	629	708	624	636	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	629	708	643	645	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	629	708	648	653	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	629	708	659	664	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	629	708	672	675	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	629	708	136	901	Chain	ID=PRO_0000003870;Note=Desmocollin-2
Q02487	629	708	580	694	Domain	Note=Cadherin 5;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00043
Q02487	629	708	629	629	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16740002;Dbxref=PMID:16740002
Q02487	629	708	638	638	Natural variant	ID=VAR_065692;Note=Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20031617;Dbxref=dbSNP:rs147742157,PMID:20031617
Q02487	629	708	136	694	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q02487	629	708	695	715	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
Q02487	314	359	318	327	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	314	359	336	346	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	314	359	354	365	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	314	359	136	901	Chain	ID=PRO_0000003870;Note=Desmocollin-2
Q02487	314	359	244	355	Domain	Note=Cadherin 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00043
Q02487	314	359	356	471	Domain	Note=Cadherin 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00043
Q02487	314	359	328	330	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	314	359	340	340	Natural variant	ID=VAR_065690;Note=In ARVD11. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19863551;Dbxref=dbSNP:rs368299411,PMID:19863551
Q02487	314	359	358	358	Natural variant	ID=VAR_062391;Note=T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18678517;Dbxref=dbSNP:rs139399951,PMID:18678517
Q02487	314	359	136	694	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q02487	314	359	313	315	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	554	629	558	568	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	554	629	590	595	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	554	629	609	611	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	554	629	624	636	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	554	629	136	901	Chain	ID=PRO_0000003870;Note=Desmocollin-2
Q02487	554	629	472	579	Domain	Note=Cadherin 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00043
Q02487	554	629	580	694	Domain	Note=Cadherin 5;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00043
Q02487	554	629	629	629	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16740002;Dbxref=PMID:16740002
Q02487	554	629	602	604	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	554	629	596	596	Natural variant	ID=VAR_065691;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20031617;Dbxref=dbSNP:rs148185335,PMID:20031617
Q02487	554	629	136	694	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q02487	554	629	586	588	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	554	629	617	622	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	629	708	624	636	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	629	708	643	645	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	629	708	648	653	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	629	708	659	664	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	629	708	672	675	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5ERP
Q02487	629	708	136	901	Chain	ID=PRO_0000003870;Note=Desmocollin-2
Q02487	629	708	580	694	Domain	Note=Cadherin 5;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00043
Q02487	629	708	629	629	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16740002;Dbxref=PMID:16740002
Q02487	629	708	638	638	Natural variant	ID=VAR_065692;Note=Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20031617;Dbxref=dbSNP:rs147742157,PMID:20031617
Q02487	629	708	136	694	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q02487	629	708	695	715	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for DSC2

- 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-DD-A39Y-01	exon_skip_298704	28651571	28651807	28651672	28651672	Frame_Shift_Del	T	-	p.N675fs
LIHC	TCGA-DD-AAD1-01	exon_skip_298708	28662204	28662389	28662231	28662231	Frame_Shift_Del	G	-	p.N413fs
LIHC	TCGA-DD-A3A0-01	exon_skip_298708	28662204	28662389	28662251	28662251	Frame_Shift_Del	T	-	p.I406fs
LIHC	TCGA-DD-A3A0-01	exon_skip_298709	28662892	28663026	28662997	28662997	Frame_Shift_Del	T	-	p.K324fs
SKCM	TCGA-D3-A3MV-06	exon_skip_298704	28651571	28651807	28651784	28651784	Nonsense_Mutation	G	A	p.Q638*
SKCM	TCGA-D3-A3MV-06	exon_skip_298704	28651571	28651807	28651784	28651784	Nonsense_Mutation	G	A	p.Q638X
LUAD	TCGA-05-4382-01	exon_skip_298708	28662204	28662389	28662236	28662236	Nonsense_Mutation	T	A	p.K411*
LUAD	TCGA-NJ-A4YI-01	exon_skip_298708	28662204	28662389	28662387	28662387	Nonsense_Mutation	A	T	p.Y360*

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

Depth of coverage in three exons

Mutation description

- 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
DOV13_OVARY	28662204	28662389	28662232	28662233	Frame_Shift_Ins	-	T	p.T412fs
HS294T_SKIN	28662204	28662389	28662232	28662233	Frame_Shift_Ins	-	T	p.T412fs
SKNAS_AUTONOMIC_GANGLIA	28651571	28651807	28651607	28651607	Missense_Mutation	T	C	p.I697V
LNCAPCLONEFGC_PROSTATE	28651571	28651807	28651613	28651613	Missense_Mutation	A	G	p.W695R
HEC59_ENDOMETRIUM	28651571	28651807	28651628	28651628	Missense_Mutation	C	T	p.V690I
KU1919_URINARY_TRACT	28651571	28651807	28651646	28651646	Missense_Mutation	T	A	p.R684W
MM386_SKIN	28651571	28651807	28651648	28651648	Missense_Mutation	G	A	p.P683L
SW684_SOFT_TISSUE	28651571	28651807	28651658	28651658	Missense_Mutation	G	A	p.R680C
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	28651571	28651807	28651793	28651793	Missense_Mutation	G	T	p.L635I
NCIH1651_LUNG	28654649	28654873	28654675	28654675	Missense_Mutation	C	A	p.R621I
NCIH1836_LUNG	28654649	28654873	28654693	28654693	Missense_Mutation	G	T	p.S615Y
NCIH1793_LUNG	28654649	28654873	28654830	28654830	Missense_Mutation	G	T	p.D569E
K029AX_SKIN	28662892	28663026	28662936	28662936	Missense_Mutation	T	C	p.I345V
OC316_OVARY	28662892	28663026	28662981	28662981	Missense_Mutation	C	A	p.G330C
MEWO_SKIN	28670991	28671110	28671013	28671013	Missense_Mutation	G	A	p.P151L
MDST8_LARGE_INTESTINE	28670991	28671110	28671058	28671058	Missense_Mutation	C	T	p.R136K
SNU1_STOMACH	28670991	28671110	28671070	28671070	Missense_Mutation	C	T	p.R132H
CORL24_LUNG	28670991	28671110	28671071	28671071	Missense_Mutation	G	A	p.R132C
MEG01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	28670991	28671110	28671102	28671102	Missense_Mutation	C	G	p.K121N
JEG3_PLACENTA	28670991	28671110	28671086	28671086	Nonsense_Mutation	C	A	p.E127*
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	28651571	28651807	28651806	28651806	Splice_Site	A	G	p.D630D
SKMEL28_SKIN	28662204	28662389	28662204	28662204	Splice_Site	C	A	p.K421N

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DSC2

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 DSC2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DSC2

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RelatedDrugs for DSC2

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 DSC2

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
DSC2	C1864850	Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	2	CTD_human;UNIPROT
DSC2	C4277682	Chemical and Drug Induced Liver Injury	1	CTD_human

	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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