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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for DSP

check button Gene summary
Gene informationGene symbol

DSP

Gene ID

1832

Gene namedesmoplakin
SynonymsDCWHKTA|DP
Cytomap

6p24.3

Type of geneprotein-coding
Descriptiondesmoplakin250/210 kDa paraneoplastic pemphigus antigen
Modification date20180523
UniProtAcc

P15924

ContextPubMed: DSP [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
DSP

GO:0018149

peptide cross-linking

10908733

DSP

GO:0030216

keratinocyte differentiation

10908733


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

check buttonSkipped 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.
all structure

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Gene isoform structures and expression levels for DSP

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for DSP

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_44781667558348:7558497:7559458:7559633:7562884:75630137559458:7559633ENSG00000096696.9ENST00000418664.2,ENST00000379802.3
exon_skip_44781767559518:7559633:7562884:7563013:7563968:75640197562884:7563013ENSG00000096696.9ENST00000418664.2,ENST00000506617.1,ENST00000379802.3
exon_skip_44782067578696:7578795:7579507:7580005:7582874:75836167579507:7580005ENSG00000096696.9ENST00000418664.2
exon_skip_44782267578696:7578795:7579507:7581802:7582874:75836167579507:7581802ENSG00000096696.9ENST00000379802.3

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for DSP

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_44781667558348:7558497:7559458:7559633:7562884:75630137559458:7559633ENSG00000096696.9ENST00000379802.3,ENST00000418664.2
exon_skip_44781767559518:7559633:7562884:7563013:7563968:75640197562884:7563013ENSG00000096696.9ENST00000379802.3,ENST00000418664.2,ENST00000506617.1
exon_skip_44782067578696:7578795:7579507:7580005:7582874:75836167579507:7580005ENSG00000096696.9ENST00000418664.2
exon_skip_44782267578696:7578795:7579507:7581802:7582874:75836167579507:7581802ENSG00000096696.9ENST00000379802.3

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000037980275594587559633Frame-shift
ENST0000037980275628847563013In-frame
ENST0000037980275795077581802In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000037980275594587559633Frame-shift
ENST0000037980275628847563013In-frame
ENST0000037980275795077581802In-frame

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

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

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000037980298132871756288475630139391067199242
ENST0000037980298132871757950775818023426572010281793

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000037980298132871756288475630139391067199242
ENST0000037980298132871757950775818023426572010281793

check button 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 featureDescription of feature
P1592419924212871ChainID=PRO_0000078144;Note=Desmoplakin
P15924199242182201HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3R6N
P15924199242211241HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3R6N
P1592419924211056RegionNote=Globular 1
P159241992421584RegionNote=Interaction with plakophilin 1 and junction plakoglobin
P15924199242178271RepeatNote=Spectrin 1
P159241028179311951793Alternative sequenceID=VSP_005070;Note=In isoform DPII. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P159241028179313511793Alternative sequenceID=VSP_053769;Note=In isoform DSPIa. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:20524011;Dbxref=PMID:20524011
P159241028179312871ChainID=PRO_0000078144;Note=Desmoplakin
P159241028179310181945Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
P159241028179316581658Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P159241028179317081708Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569
P159241028179312551255Natural variantID=VAR_023814;Note=In ARVD8. R->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15941723,ECO:0000269|PubMed:20031617;Dbxref=dbSNP:rs777407386,PMID:15941723,PMID:20031617
P159241028179315051505Natural variantID=VAR_065694;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20031617;Dbxref=dbSNP:rs375919492,PMID:20031617
P159241028179315121512Natural variantID=VAR_020468;Note=Y->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19863551,ECO:0000269|PubMed:20031617;Dbxref=dbSNP:rs2076299,PMID:19863551,PMID:20031617
P159241028179315261526Natural variantID=VAR_065695;Note=N->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19863551,ECO:0000269|PubMed:20031617;Dbxref=dbSNP:rs28763966,PMID:19863551,PMID:20031617
P159241028179315371537Natural variantID=VAR_065696;Note=R->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19863551,ECO:0000269|PubMed:20031617;Dbxref=dbSNP:rs28763967,PMID:19863551,PMID:20031617
P159241028179317381738Natural variantID=VAR_023815;Note=R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19863551,ECO:0000269|PubMed:20031617;Dbxref=dbSNP:rs6929069,PMID:19863551,PMID:20031617
P159241028179317751775Natural variantID=VAR_023816;Note=In ARVD8%3B unknown pathological significance. R->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15941723,ECO:0000269|PubMed:20031617;Dbxref=dbSNP:rs34738426,PMID:15941723,PMID:20031617
P159241028179311056RegionNote=Globular 1
P159241028179310571945RegionNote=Central fibrous rod domain
P159241028179311201120Sequence conflictNote=D->R;Ontology_term=ECO:0000305;evidence=ECO:0000305


check button 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 featureDescription of feature
P1592419924212871ChainID=PRO_0000078144;Note=Desmoplakin
P15924199242182201HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3R6N
P15924199242211241HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3R6N
P1592419924211056RegionNote=Globular 1
P159241992421584RegionNote=Interaction with plakophilin 1 and junction plakoglobin
P15924199242178271RepeatNote=Spectrin 1
P159241028179311951793Alternative sequenceID=VSP_005070;Note=In isoform DPII. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P159241028179313511793Alternative sequenceID=VSP_053769;Note=In isoform DSPIa. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:20524011;Dbxref=PMID:20524011
P159241028179312871ChainID=PRO_0000078144;Note=Desmoplakin
P159241028179310181945Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
P159241028179316581658Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P159241028179317081708Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569
P159241028179312551255Natural variantID=VAR_023814;Note=In ARVD8. R->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15941723,ECO:0000269|PubMed:20031617;Dbxref=dbSNP:rs777407386,PMID:15941723,PMID:20031617
P159241028179315051505Natural variantID=VAR_065694;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20031617;Dbxref=dbSNP:rs375919492,PMID:20031617
P159241028179315121512Natural variantID=VAR_020468;Note=Y->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19863551,ECO:0000269|PubMed:20031617;Dbxref=dbSNP:rs2076299,PMID:19863551,PMID:20031617
P159241028179315261526Natural variantID=VAR_065695;Note=N->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19863551,ECO:0000269|PubMed:20031617;Dbxref=dbSNP:rs28763966,PMID:19863551,PMID:20031617
P159241028179315371537Natural variantID=VAR_065696;Note=R->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19863551,ECO:0000269|PubMed:20031617;Dbxref=dbSNP:rs28763967,PMID:19863551,PMID:20031617
P159241028179317381738Natural variantID=VAR_023815;Note=R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19863551,ECO:0000269|PubMed:20031617;Dbxref=dbSNP:rs6929069,PMID:19863551,PMID:20031617
P159241028179317751775Natural variantID=VAR_023816;Note=In ARVD8%3B unknown pathological significance. R->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15941723,ECO:0000269|PubMed:20031617;Dbxref=dbSNP:rs34738426,PMID:15941723,PMID:20031617
P159241028179311056RegionNote=Globular 1
P159241028179310571945RegionNote=Central fibrous rod domain
P159241028179311201120Sequence conflictNote=D->R;Ontology_term=ECO:0000305;evidence=ECO:0000305


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SNVs in the skipped exons for DSP

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

check button - Differential PSIs between mutated versus non-mutated samples.
DSP_CESC_exon_skip_447822_psi_boxplot.png
boxplot
DSP_HNSC_exon_skip_447822_psi_boxplot.png
boxplot
DSP_LIHC_exon_skip_447822_psi_boxplot.png
boxplot
DSP_LUSC_exon_skip_447822_psi_boxplot.png
boxplot
DSP_SKCM_exon_skip_447822_psi_boxplot.png
boxplot
DSP_STAD_exon_skip_447822_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A39Y-01exon_skip_447816
7559459755963375595897559589Frame_Shift_DelA-p.K185fs
KIRPTCGA-B9-A44B-01exon_skip_447817
7562885756301375629967562996Frame_Shift_DelA-p.D236fs
STADTCGA-BR-4361-01exon_skip_447822
7579508758180275801037580103Frame_Shift_DelA-p.Q1227fs
LIHCTCGA-DD-A39Y-01exon_skip_447822
7579508758180275801577580157Frame_Shift_DelA-p.E1245fs
LIHCTCGA-G3-A3CJ-01exon_skip_447822
7579508758180275801577580157Frame_Shift_DelA-p.E1245fs
STADTCGA-BR-4361-01exon_skip_447822
7579508758180275805097580509Frame_Shift_DelA-p.L1362fs
STADTCGA-BR-4361-01exon_skip_447822
7579508758180275805097580509Frame_Shift_DelA-p.L1362X
STADTCGA-CG-5723-01exon_skip_447822
7579508758180275805097580509Frame_Shift_DelA-p.L1362fs
STADTCGA-CG-5723-01exon_skip_447822
7579508758180275805097580509Frame_Shift_DelA-p.L1362X
LIHCTCGA-DD-A39Y-01exon_skip_447822
7579508758180275806467580646Frame_Shift_DelA-p.E1408fs
LIHCTCGA-G3-A3CJ-01exon_skip_447822
7579508758180275807217580721Frame_Shift_DelA-p.Q1433fs
UCSTCGA-N5-A4RT-01exon_skip_447822
7579508758180275810437581043Frame_Shift_DelC-p.I1540fs
LUSCTCGA-34-5240-01exon_skip_447822
7579508758180275811277581142Frame_Shift_DelGCAGAAGCAGAAGGTG-p.L1568fs
ESCATCGA-VR-AA7B-01exon_skip_447822
7579508758180275800477580048Frame_Shift_Ins-AAGTp.N1208fs
ESCATCGA-VR-AA7B-01exon_skip_447822
7579508758180275800477580048Frame_Shift_Ins-AAGTp.V1209fs
ESCATCGA-VR-AA7B-01exon_skip_447822
7579508758180275800477580048Frame_Shift_Ins-AAGTp.Y1209fs
CESCTCGA-C5-A1M6-01exon_skip_447822
7579508758180275805517580552Frame_Shift_Ins-AGp.I1376fs
CESCTCGA-C5-A1M6-01exon_skip_447822
7579508758180275805517580552Frame_Shift_Ins-AGp.P1377fs
BLCATCGA-GU-A766-01exon_skip_447816
7559459755963375595147559514Nonsense_MutationCTp.R160*
KIRPTCGA-BQ-5877-01exon_skip_447817
7562885756301375629807562980Nonsense_MutationTAp.Y231*
KIRPTCGA-BQ-5877-01exon_skip_447817
7562885756301375629807562980Nonsense_MutationTAp.Y231X
UCECTCGA-B5-A0JY-01exon_skip_447820
7579508758000575797397579739Nonsense_MutationGTp.E1106*
UCECTCGA-B5-A0JY-01exon_skip_447822
7579508758180275797397579739Nonsense_MutationGTp.E1106*
UCECTCGA-AX-A0J0-01exon_skip_447820
7579508758000575797847579784Nonsense_MutationGTp.E1121*
UCECTCGA-AX-A0J0-01exon_skip_447822
7579508758180275797847579784Nonsense_MutationGTp.E1121*
SKCMTCGA-EE-A2MD-06exon_skip_447822
7579508758180275801627580162Nonsense_MutationCTp.R1247*
SKCMTCGA-EE-A2MD-06exon_skip_447822
7579508758180275801627580162Nonsense_MutationCTp.R1247X
HNSCTCGA-CV-A45O-01exon_skip_447822
7579508758180275802497580249Nonsense_MutationCTp.Q1276*
UCECTCGA-D1-A174-01exon_skip_447822
7579508758180275803247580324Nonsense_MutationCTp.Q1301*
SKCMTCGA-EE-A2MR-06exon_skip_447822
7579508758180275804487580448Nonsense_MutationGAp.W1342*
SKCMTCGA-FR-A8YC-06exon_skip_447822
7579508758180275804497580449Nonsense_MutationGAp.W1342*
SKCMTCGA-BF-A5EQ-01exon_skip_447822
7579508758180275805167580516Nonsense_MutationCTp.Q1365*
SKCMTCGA-BF-A5EQ-01exon_skip_447822
7579508758180275805167580516Nonsense_MutationCTp.Q1365X
THYMTCGA-X7-A8DF-01exon_skip_447822
7579508758180275806247580624Nonsense_MutationGTp.E1401X
BLCATCGA-ZF-A9RC-01exon_skip_447822
7579508758180275807477580747Nonsense_MutationCTp.Q1442*
LGGTCGA-WH-A86K-01exon_skip_447822
7579508758180275810507581050Nonsense_MutationGTp.E1543*
SKCMTCGA-FS-A1ZK-06exon_skip_447822
7579508758180275811017581101Nonsense_MutationCTp.Q1560*
SKCMTCGA-FS-A1ZK-06exon_skip_447822
7579508758180275811017581101Nonsense_MutationCTp.Q1560X
OVTCGA-13-0760-01exon_skip_447816
7559459755963375594577559457Splice_SiteAGe4-2
PAADTCGA-IB-7651-01exon_skip_447817
7562885756301375630147563014Splice_SiteGA.
GBMTCGA-06-0214-01exon_skip_447822
7579508758180275818047581804Splice_SiteTAp.E1793_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
DSP_7578696_7578795_7579507_7581802_7582874_7583616_TCGA-CV-A45O-01Sample: TCGA-CV-A45O-01
Cancer type: HNSC
ESID: exon_skip_447822
Skipped exon start: 7579508
Skipped exon end: 7581802
Mutation start: 7580249
Mutation end: 7580249
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: T
AAchange: p.Q1276*
exon_skip_447822_HNSC_TCGA-CV-A45O-01.png
boxplot
exon_skip_479756_HNSC_TCGA-CV-A45O-01.png
boxplot
exon_skip_507415_HNSC_TCGA-CV-A45O-01.png
boxplot
DSP_7578696_7578795_7579507_7581802_7582874_7583616_TCGA-EE-A2MD-06Sample: TCGA-EE-A2MD-06
Cancer type: SKCM
ESID: exon_skip_447822
Skipped exon start: 7579508
Skipped exon end: 7581802
Mutation start: 7580162
Mutation end: 7580162
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: T
AAchange: p.R1247X
DSP_7578696_7578795_7579507_7581802_7582874_7583616_TCGA-EE-A2MD-06Sample: TCGA-EE-A2MD-06
Cancer type: SKCM
ESID: exon_skip_447822
Skipped exon start: 7579508
Skipped exon end: 7581802
Mutation start: 7580162
Mutation end: 7580162
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: T
AAchange: p.R1247*
exon_skip_141897_SKCM_TCGA-EE-A2MD-06.png
boxplot
exon_skip_295454_SKCM_TCGA-EE-A2MD-06.png
boxplot
exon_skip_447822_SKCM_TCGA-EE-A2MD-06.png
boxplot
DSP_7578696_7578795_7579507_7581802_7582874_7583616_TCGA-C5-A1M6-01Sample: TCGA-C5-A1M6-01
Cancer type: CESC
ESID: exon_skip_447822
Skipped exon start: 7579508
Skipped exon end: 7581802
Mutation start: 7580551
Mutation end: 7580552
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: AG
AAchange: p.I1376fs
DSP_7578696_7578795_7579507_7581802_7582874_7583616_TCGA-C5-A1M6-01Sample: TCGA-C5-A1M6-01
Cancer type: CESC
ESID: exon_skip_447822
Skipped exon start: 7579508
Skipped exon end: 7581802
Mutation start: 7580551
Mutation end: 7580552
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: AG
AAchange: p.P1377fs
exon_skip_447822_CESC_TCGA-C5-A1M6-01.png
boxplot
DSP_7578696_7578795_7579507_7581802_7582874_7583616_TCGA-34-5240-01Sample: TCGA-34-5240-01
Cancer type: LUSC
ESID: exon_skip_447822
Skipped exon start: 7579508
Skipped exon end: 7581802
Mutation start: 7581127
Mutation end: 7581142
Mutation type: Frame_Shift_Del
Reference seq: GCAGAAGCAGAAGGTG
Mutation seq: -
AAchange: p.L1568fs
exon_skip_129795_LUSC_TCGA-34-5240-01.png
boxplot
exon_skip_447822_LUSC_TCGA-34-5240-01.png
boxplot
DSP_7578696_7578795_7579507_7581802_7582874_7583616_TCGA-BR-4361-01Sample: TCGA-BR-4361-01
Cancer type: STAD
ESID: exon_skip_447822
Skipped exon start: 7579508
Skipped exon end: 7581802
Mutation start: 7580103
Mutation end: 7580103
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.Q1227fs
DSP_7578696_7578795_7579507_7581802_7582874_7583616_TCGA-BR-4361-01Sample: TCGA-BR-4361-01
Cancer type: STAD
ESID: exon_skip_447822
Skipped exon start: 7579508
Skipped exon end: 7581802
Mutation start: 7580509
Mutation end: 7580509
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.L1362X
DSP_7578696_7578795_7579507_7581802_7582874_7583616_TCGA-BR-4361-01Sample: TCGA-BR-4361-01
Cancer type: STAD
ESID: exon_skip_447822
Skipped exon start: 7579508
Skipped exon end: 7581802
Mutation start: 7580509
Mutation end: 7580509
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.L1362fs
exon_skip_110606_STAD_TCGA-BR-4361-01.png
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DSP_7578696_7578795_7579507_7581802_7582874_7583616_TCGA-CG-5723-01Sample: TCGA-CG-5723-01
Cancer type: STAD
ESID: exon_skip_447822
Skipped exon start: 7579508
Skipped exon end: 7581802
Mutation start: 7580509
Mutation end: 7580509
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.L1362X
DSP_7578696_7578795_7579507_7581802_7582874_7583616_TCGA-CG-5723-01Sample: TCGA-CG-5723-01
Cancer type: STAD
ESID: exon_skip_447822
Skipped exon start: 7579508
Skipped exon end: 7581802
Mutation start: 7580509
Mutation end: 7580509
Mutation type: Frame_Shift_Del
Reference seq: A
Mutation seq: -
AAchange: p.L1362fs
exon_skip_101055_STAD_TCGA-CG-5723-01.png
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check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
NCIH1651_LUNG7579508758000575798667579866Frame_Shift_DelG-p.C1148fs
NCIH1651_LUNG7579508758180275798667579866Frame_Shift_DelG-p.C1148fs
LNCAPCLONEFGC_PROSTATE7579508758180275803907580390Frame_Shift_DelA-p.K1323fs
SNU1040_LARGE_INTESTINE7579508758180275808817580881Frame_Shift_DelA-p.L1486fs
SW780_URINARY_TRACT7579508758180275816617581661Frame_Shift_DelT-p.N1746fs
RL952_ENDOMETRIUM7579508758000575795837579585In_Frame_DelAAG-p.K1054del
RL952_ENDOMETRIUM7579508758180275795837579585In_Frame_DelAAG-p.K1054del
NCIH292_LUNG7559459755963375595207559520Missense_MutationCTp.R162C
KMRC3_KIDNEY7559459755963375595207559520Missense_MutationCTp.R162C
HCC44_LUNG7559459755963375595617559561Missense_MutationGCp.Q175H
P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE7559459755963375595867559586Missense_MutationAGp.T184A
SW684_SOFT_TISSUE7562885756301375629607562960Missense_MutationCTp.H225Y
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE7562885756301375629827562982Missense_MutationGAp.R232H
RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE7579508758000575795267579526Missense_MutationGAp.E1035K
RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE7579508758180275795267579526Missense_MutationGAp.E1035K
NCIH28_PLEURA7579508758000575795927579592Missense_MutationTGp.F1057V
NCIH28_PLEURA7579508758180275795927579592Missense_MutationTGp.F1057V
WIL2NS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE7579508758000575797487579748Missense_MutationGAp.E1109K
WIL2NS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE7579508758180275797487579748Missense_MutationGAp.E1109K
KMBC2_URINARY_TRACT7579508758000575797617579761Missense_MutationGAp.R1113Q
KMBC2_URINARY_TRACT7579508758180275797617579761Missense_MutationGAp.R1113Q
SNU201_CENTRAL_NERVOUS_SYSTEM7579508758000575797617579761Missense_MutationGAp.R1113Q
SNU201_CENTRAL_NERVOUS_SYSTEM7579508758180275797617579761Missense_MutationGAp.R1113Q
LU65_LUNG7579508758000575797617579761Missense_MutationGAp.R1113Q
LU65_LUNG7579508758180275797617579761Missense_MutationGAp.R1113Q
NCIH520_LUNG7579508758000575798397579839Missense_MutationAGp.Y1139C
NCIH520_LUNG7579508758180275798397579839Missense_MutationAGp.Y1139C
CHL1_SKIN7579508758000575798847579884Missense_MutationGAp.G1154D
CHL1_SKIN7579508758180275798847579884Missense_MutationGAp.G1154D
HMCB_SKIN7579508758000575798847579884Missense_MutationGAp.G1154D
HMCB_SKIN7579508758180275798847579884Missense_MutationGAp.G1154D
HEC1A_ENDOMETRIUM7579508758000575799597579959Missense_MutationAGp.Q1179R
HEC1A_ENDOMETRIUM7579508758180275799597579959Missense_MutationAGp.Q1179R
HEC1_ENDOMETRIUM7579508758000575799597579959Missense_MutationAGp.Q1179R
HEC1_ENDOMETRIUM7579508758180275799597579959Missense_MutationAGp.Q1179R
HEC1B_ENDOMETRIUM7579508758000575799597579959Missense_MutationAGp.Q1179R
HEC1B_ENDOMETRIUM7579508758180275799597579959Missense_MutationAGp.Q1179R
HCC1359_LUNG7579508758000575799787579978Missense_MutationGCp.K1185N
HCC1359_LUNG7579508758180275799787579978Missense_MutationGCp.K1185N
NCIH1573_LUNG7579508758000575799817579981Missense_MutationATp.R1186S
NCIH1573_LUNG7579508758180275799817579981Missense_MutationATp.R1186S
639V_URINARY_TRACT7579508758180275801147580114Missense_MutationGAp.D1231N
ASH3_THYROID7579508758180275801957580195Missense_MutationGTp.D1258Y
YKG1_CENTRAL_NERVOUS_SYSTEM7579508758180275802207580220Missense_MutationACp.Q1266P
CHAGOK1_LUNG7579508758180275802437580243Missense_MutationGAp.A1274T
HT115_LARGE_INTESTINE7579508758180275803287580328Missense_MutationGAp.R1302H
ES1_BONE7579508758180275803907580390Missense_MutationACp.K1323Q
LNZTA3WT4_CENTRAL_NERVOUS_SYSTEM7579508758180275804327580432Missense_MutationGCp.E1337Q
SNU878_LIVER7579508758180275804667580466Missense_MutationTGp.L1348R
HMY1_SKIN7579508758180275804697580469Missense_MutationGCp.S1349T
WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE7579508758180275805567580556Missense_MutationAGp.H1378R
KYSE140_OESOPHAGUS7579508758180275806227580622Missense_MutationGAp.R1400Q
HCET_UPPER_AERODIGESTIVE_TRACT7579508758180275806227580622Missense_MutationGAp.R1400Q
WM278_SKIN7579508758180275806727580672Missense_MutationAGp.T1417A
U698M_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE7579508758180275808087580809Missense_MutationGCTTp.S1462I
LN464_CENTRAL_NERVOUS_SYSTEM7579508758180275808937580893Missense_MutationCGp.I1490M
ACN_AUTONOMIC_GANGLIA7579508758180275808937580893Missense_MutationCGp.I1490M
VMRCRCW_KIDNEY7579508758180275808947580894Missense_MutationGAp.D1491N
SW1783_CENTRAL_NERVOUS_SYSTEM7579508758180275809887580988Missense_MutationCTp.T1522M
D566MG_CENTRAL_NERVOUS_SYSTEM7579508758180275809887580988Missense_MutationCTp.T1522M
T84_LARGE_INTESTINE7579508758180275810067581006Missense_MutationTGp.L1528R
SF295_CENTRAL_NERVOUS_SYSTEM7579508758180275810117581011Missense_MutationGAp.V1530I
MERO83_LUNG7579508758180275811027581102Missense_MutationAGp.Q1560R
WM35_SKIN7579508758180275811587581158Missense_MutationCTp.R1579W
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM7579508758180275811597581159Missense_MutationGAp.R1579Q
HCT15_LARGE_INTESTINE7579508758180275812527581252Missense_MutationTCp.I1610T
HCC2157_BREAST7579508758180275812537581253Missense_MutationCGp.I1610M
IM9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE7579508758180275813177581317Missense_MutationGAp.D1632N
MM370_SKIN7579508758180275813727581372Missense_MutationCTp.T1650I
MMACSF_SKIN7579508758180275814867581486Missense_MutationCTp.A1688V
HCC2157_BREAST7579508758180275816207581620Missense_MutationGAp.D1733N
HCC2157_MATCHED_NORMAL_TISSUE7579508758180275816207581620Missense_MutationGAp.D1733N
T3M10_LUNG7579508758180275816217581621Missense_MutationAGp.D1733G
EGI1_BILIARY_TRACT7579508758180275817077581707Missense_MutationCTp.R1762W
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE7579508758180275817697581769Missense_MutationGTp.Q1782H
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE7579508758180275802797580279Nonsense_MutationCTp.Q1286*
MDST8_LARGE_INTESTINE7579508758180275803037580303Nonsense_MutationGTp.E1294*
KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE7579508758180275810837581083Nonsense_MutationCTp.Q1554*
NCIH446_LUNG7579508758180275815697581569Nonsense_MutationGTp.E1716*
SW1783_CENTRAL_NERVOUS_SYSTEM7579508758180275816357581635Nonsense_MutationCTp.R1738*
JHUEM7_ENDOMETRIUM7579508758180275817417581741Nonsense_MutationTGp.L1773*
LC1F_LUNG7559459755963375596327559632Splice_SiteGAp.R199K
SKMEL5_SKIN7559459755963375596327559632Splice_SiteGAp.R199K
LC1SQSF_LUNG7559459755963375596327559632Splice_SiteGAp.R199K
TE6_OESOPHAGUS7559459755963375596327559632Splice_SiteGTp.R199M
LC1SQ_LUNG7559459755963375596327559632Splice_SiteGAp.R199K

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

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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


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


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RelatedDrugs for DSP

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
P15924DB01593ZincDesmoplakinsmall moleculeapproved|investigational
P15924DB14487Zinc acetateDesmoplakinsmall moleculeapproved|investigational
P15924DB14533Zinc chlorideDesmoplakinsmall moleculeapproved|investigational

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RelatedDiseases for DSP

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
DSPC1843896Arrhythmogenic Right Ventricular Dysplasia, Familial, 83CTD_human;UNIPROT
DSPC4014393CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS2UNIPROT
DSPC0085298Sudden Cardiac Death1CTD_human;HPO
DSPC1800706Idiopathic Pulmonary Fibrosis1CTD_human;ORPHANET
DSPC1843292Skin Fragility-Woolly Hair Syndrome1CTD_human;ORPHANET;UNIPROT
DSPC1854063Cardiomyopathy dilated with Woolly hair and keratoderma1CTD_human;ORPHANET