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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 DNAJC13

check button Gene summary
Gene informationGene symbol

DNAJC13

Gene ID

23317

Gene nameDnaJ heat shock protein family (Hsp40) member C13
SynonymsPARK21|RME8
Cytomap

3q22.1

Type of geneprotein-coding
DescriptiondnaJ homolog subfamily C member 13DnaJ (Hsp40) homolog, subfamily C, member 13DnaJ domain-containing protein RME-8required for receptor-mediated endocytosis 8
Modification date20180523
UniProtAcc

O75165

ContextPubMed: DNAJC13 [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

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Exon skipping events across known transcript of Ensembl for DNAJC13 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 DNAJC13

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 DNAJC13

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3777383132136552:132136604:132153381:132153462:132165318:132165394132153381:132153462ENSG00000138246.11ENST00000486798.1
exon_skip_3777393132153381:132153462:132165318:132165394:132166164:132166314132165318:132165394ENSG00000138246.11ENST00000260818.6,ENST00000486798.1
exon_skip_3777403132166741:132166783:132169490:132169691:132172141:132172348132169490:132169691ENSG00000138246.11ENST00000260818.6,ENST00000486798.1
exon_skip_3777423132172442:132172538:132172909:132173001:132175078:132175245132172909:132173001ENSG00000138246.11ENST00000260818.6,ENST00000486798.1
exon_skip_3777433132179093:132179201:132179893:132180049:132181310:132181367132179893:132180049ENSG00000138246.11ENST00000260818.6,ENST00000486798.1
exon_skip_3777453132179893:132180049:132181310:132181367:132182539:132182661132181310:132181367ENSG00000138246.11ENST00000260818.6,ENST00000486798.1
exon_skip_3777463132181310:132181367:132182539:132182661:132184838:132184914132182539:132182661ENSG00000138246.11ENST00000260818.6,ENST00000486798.1
exon_skip_3777483132184838:132184914:132185142:132185238:132186013:132186157132185142:132185238ENSG00000138246.11ENST00000260818.6,ENST00000486798.1
exon_skip_3777543132202218:132202421:132203206:132203337:132203431:132203516132203206:132203337ENSG00000138246.11ENST00000506813.1
exon_skip_3777573132203431:132203516:132207141:132207296:132207819:132207865132207141:132207296ENSG00000138246.11ENST00000260818.6
exon_skip_3777593132212987:132213103:132213931:132214010:132215371:132215507132213931:132214010ENSG00000138246.11ENST00000260818.6
exon_skip_3777603132217969:132218154:132218577:132218652:132219637:132219757132218577:132218652ENSG00000138246.11ENST00000260818.6
exon_skip_3777613132222057:132222225:132224145:132224259:132226080:132226197132224145:132224259ENSG00000138246.11ENST00000260818.6
exon_skip_3777623132233414:132233514:132235265:132235340:132235547:132235660132235265:132235340ENSG00000138246.11ENST00000260818.6
exon_skip_3777633132241816:132241841:132242000:132242043:132242383:132242557132242000:132242043ENSG00000138246.11ENST00000463038.1,ENST00000260818.6
exon_skip_3777643132242000:132242043:132242383:132242557:132244453:132244633132242383:132242557ENSG00000138246.11ENST00000260818.6
exon_skip_3777653132249869:132249941:132256001:132256110:132257019:132257352132256001:132256110ENSG00000138246.11ENST00000509279.1

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

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Exon skipping events with PSIs in GTEx for DNAJC13

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3777383132136552:132136604:132153381:132153462:132165318:132165394132153381:132153462ENSG00000138246.11ENST00000486798.1
exon_skip_3777393132153381:132153462:132165318:132165394:132166164:132166314132165318:132165394ENSG00000138246.11ENST00000260818.6,ENST00000486798.1
exon_skip_3777403132166741:132166783:132169490:132169691:132172141:132172348132169490:132169691ENSG00000138246.11ENST00000260818.6,ENST00000486798.1
exon_skip_3777423132172442:132172538:132172909:132173001:132175078:132175245132172909:132173001ENSG00000138246.11ENST00000260818.6,ENST00000486798.1
exon_skip_3777433132179093:132179201:132179893:132180049:132181310:132181367132179893:132180049ENSG00000138246.11ENST00000260818.6,ENST00000486798.1
exon_skip_3777453132179893:132180049:132181310:132181367:132182539:132182661132181310:132181367ENSG00000138246.11ENST00000260818.6,ENST00000486798.1
exon_skip_3777463132181310:132181367:132182539:132182661:132184838:132184914132182539:132182661ENSG00000138246.11ENST00000260818.6,ENST00000486798.1
exon_skip_3777483132184838:132184914:132185142:132185238:132186013:132186157132185142:132185238ENSG00000138246.11ENST00000260818.6,ENST00000486798.1
exon_skip_3777543132202218:132202421:132203206:132203337:132203431:132203516132203206:132203337ENSG00000138246.11ENST00000506813.1
exon_skip_3777573132203431:132203516:132207141:132207296:132207819:132207865132207141:132207296ENSG00000138246.11ENST00000260818.6
exon_skip_3777593132212987:132213103:132213931:132214010:132215371:132215507132213931:132214010ENSG00000138246.11ENST00000260818.6
exon_skip_3777603132217969:132218154:132218577:132218652:132219637:132219757132218577:132218652ENSG00000138246.11ENST00000260818.6
exon_skip_3777613132222057:132222225:132224145:132224259:132226080:132226197132224145:132224259ENSG00000138246.11ENST00000260818.6
exon_skip_3777623132233414:132233514:132235265:132235340:132235547:132235660132235265:132235340ENSG00000138246.11ENST00000260818.6
exon_skip_3777633132241816:132241841:132242000:132242043:132242383:132242557132242000:132242043ENSG00000138246.11ENST00000260818.6,ENST00000463038.1
exon_skip_3777643132242000:132242043:132242383:132242557:132244453:132244633132242383:132242557ENSG00000138246.11ENST00000260818.6
exon_skip_3777653132249869:132249941:132256001:132256110:132257019:132257352132256001:132256110ENSG00000138246.11ENST00000509279.1

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 DNAJC13

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
ENST00000260818132165318132165394Frame-shift
ENST00000260818132172909132173001Frame-shift
ENST00000260818132182539132182661Frame-shift
ENST00000260818132207141132207296Frame-shift
ENST00000260818132213931132214010Frame-shift
ENST00000260818132242000132242043Frame-shift
ENST00000260818132169490132169691In-frame
ENST00000260818132179893132180049In-frame
ENST00000260818132181310132181367In-frame
ENST00000260818132185142132185238In-frame
ENST00000260818132218577132218652In-frame
ENST00000260818132224145132224259In-frame
ENST00000260818132235265132235340In-frame
ENST00000260818132242383132242557In-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
ENST00000260818132165318132165394Frame-shift
ENST00000260818132172909132173001Frame-shift
ENST00000260818132182539132182661Frame-shift
ENST00000260818132207141132207296Frame-shift
ENST00000260818132213931132214010Frame-shift
ENST00000260818132242000132242043Frame-shift
ENST00000260818132169490132169691In-frame
ENST00000260818132179893132180049In-frame
ENST00000260818132181310132181367In-frame
ENST00000260818132185142132185238In-frame
ENST00000260818132218577132218652In-frame
ENST00000260818132224145132224259In-frame
ENST00000260818132235265132235340In-frame
ENST00000260818132242383132242557In-frame

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Infer the effects of exon skipping event on protein functional features for DNAJC13

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
ENST0000026081877472243132169490132169691585785112179
ENST000002608187747224313217989313218004918061961519571
ENST000002608187747224313218131013218136719622018571590
ENST000002608187747224313218514213218523822172312656688
ENST00000260818774722431322185771322186524590466414471472
ENST00000260818774722431322241451322242595133524616281666
ENST00000260818774722431322352651322353405734580818281853
ENST00000260818774722431322423831322425576135630819622020

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
ENST0000026081877472243132169490132169691585785112179
ENST000002608187747224313217989313218004918061961519571
ENST000002608187747224313218131013218136719622018571590
ENST000002608187747224313218514213218523822172312656688
ENST00000260818774722431322185771322186524590466414471472
ENST00000260818774722431322241451322242595133524616281666
ENST00000260818774722431322352651322353405734580818281853
ENST00000260818774722431322423831322425576135630819622020

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


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


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SNVs in the skipped exons for DNAJC13

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.
DNAJC13_LUSC_exon_skip_377740_psi_boxplot.png
boxplot
DNAJC13_PAAD_exon_skip_377740_psi_boxplot.png
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check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
COADTCGA-AD-5900-01exon_skip_377738
132153382132153462132153456132153456Frame_Shift_DelG-p.R21fs
LIHCTCGA-DD-A39Y-01exon_skip_377742
132172910132173001132172935132172935Frame_Shift_DelA-p.E289fs
LIHCTCGA-DD-A1EG-01exon_skip_377742
132172910132173001132172947132172947Frame_Shift_DelT-p.L293fs
LIHCTCGA-G3-A3CJ-01exon_skip_377743
132179894132180049132180038132180038Frame_Shift_DelA-p.K568fs
LIHCTCGA-DD-A1EG-01exon_skip_377748
132185143132185238132185227132185227Frame_Shift_DelA-p.K685fs
LIHCTCGA-DD-A3A0-01exon_skip_377757
132207142132207296132207190132207190Frame_Shift_DelT-p.L1106fs
LIHCTCGA-G3-A3CJ-01exon_skip_377759
132213932132214010132213976132213976Frame_Shift_DelA-p.Q1329fs
LIHCTCGA-G3-A3CJ-01exon_skip_377759
132213932132214010132213983132213983Frame_Shift_DelC-p.Y1331fs
LIHCTCGA-G3-A3CJ-01exon_skip_377759
132213932132214010132214005132214005Frame_Shift_DelG-p.G1339fs
LIHCTCGA-DD-A1EG-01exon_skip_377761
132224146132224259132224243132224243Frame_Shift_DelA-p.E1661fs
LIHCTCGA-G3-A3CJ-01exon_skip_377761
132224146132224259132224243132224243Frame_Shift_DelA-p.E1661fs
COADTCGA-G4-6586-01exon_skip_377761
132224146132224259132224254132224254Frame_Shift_DelA-p.I1664fs
LIHCTCGA-DD-A1EG-01exon_skip_377761
132224146132224259132224254132224254Frame_Shift_DelA-p.K1666fs
LIHCTCGA-DD-A3A0-01exon_skip_377761
132224146132224259132224254132224254Frame_Shift_DelA-p.K1666fs
LIHCTCGA-G3-A3CJ-01exon_skip_377761
132224146132224259132224254132224254Frame_Shift_DelA-p.K1666fs
LIHCTCGA-BC-A112-01exon_skip_377759
132213932132214010132213958132213959Frame_Shift_Ins-Tp.V1323fs
UCECTCGA-AP-A051-01exon_skip_377743
132179894132180049132179925132179925Nonsense_MutationCAp.S530*
HNSCTCGA-CQ-6228-01exon_skip_377748
132185143132185238132185174132185174Nonsense_MutationCGp.S667*
BLCATCGA-CF-A9FF-01exon_skip_377762
132235266132235340132235271132235271Nonsense_MutationCTp.Q1831*
UCECTCGA-AX-A05Z-01exon_skip_377764
132242384132242557132242498132242498Nonsense_MutationGTp.E2001*
PRADTCGA-G9-6377-01exon_skip_377739
132165319132165394132165395132165395Splice_SiteGT.
LUSCTCGA-46-3768-01exon_skip_377740
132169491132169691132169490132169490Splice_SiteGCp.R113_splice
PAADTCGA-IB-7651-01exon_skip_377740
132169491132169691132169692132169692Splice_SiteGA.
LUADTCGA-05-5429-01exon_skip_377746
132182540132182661132182659132182662Splice_SiteTAGG-p.K630_splice
LUADTCGA-05-5429-01exon_skip_377746
132182540132182661132182659132182662Splice_SiteTAGG-p.R631_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
DNAJC13_132166741_132166783_132169490_132169691_132172141_132172348_TCGA-IB-7651-01Sample: TCGA-IB-7651-01
Cancer type: PAAD
ESID: exon_skip_377740
Skipped exon start: 132169491
Skipped exon end: 132169691
Mutation start: 132169692
Mutation end: 132169692
Mutation type: Splice_Site
Reference seq: G
Mutation seq: A
AAchange: .
exon_skip_113241_PAAD_TCGA-IB-7651-01.png
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exon_skip_115380_PAAD_TCGA-IB-7651-01.png
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exon_skip_124564_PAAD_TCGA-IB-7651-01.png
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exon_skip_135806_PAAD_TCGA-IB-7651-01.png
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exon_skip_139341_PAAD_TCGA-IB-7651-01.png
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exon_skip_153733_PAAD_TCGA-IB-7651-01.png
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exon_skip_155805_PAAD_TCGA-IB-7651-01.png
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exon_skip_18053_PAAD_TCGA-IB-7651-01.png
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exon_skip_18056_PAAD_TCGA-IB-7651-01.png
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exon_skip_23067_PAAD_TCGA-IB-7651-01.png
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exon_skip_287059_PAAD_TCGA-IB-7651-01.png
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exon_skip_294631_PAAD_TCGA-IB-7651-01.png
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exon_skip_298512_PAAD_TCGA-IB-7651-01.png
boxplot
exon_skip_306900_PAAD_TCGA-IB-7651-01.png
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exon_skip_307723_PAAD_TCGA-IB-7651-01.png
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exon_skip_315960_PAAD_TCGA-IB-7651-01.png
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exon_skip_324675_PAAD_TCGA-IB-7651-01.png
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exon_skip_330351_PAAD_TCGA-IB-7651-01.png
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exon_skip_334330_PAAD_TCGA-IB-7651-01.png
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exon_skip_341784_PAAD_TCGA-IB-7651-01.png
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exon_skip_343314_PAAD_TCGA-IB-7651-01.png
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exon_skip_348329_PAAD_TCGA-IB-7651-01.png
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exon_skip_354232_PAAD_TCGA-IB-7651-01.png
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exon_skip_370626_PAAD_TCGA-IB-7651-01.png
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exon_skip_377740_PAAD_TCGA-IB-7651-01.png
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exon_skip_385032_PAAD_TCGA-IB-7651-01.png
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exon_skip_390031_PAAD_TCGA-IB-7651-01.png
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exon_skip_422548_PAAD_TCGA-IB-7651-01.png
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exon_skip_424536_PAAD_TCGA-IB-7651-01.png
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exon_skip_431753_PAAD_TCGA-IB-7651-01.png
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exon_skip_432982_PAAD_TCGA-IB-7651-01.png
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exon_skip_435489_PAAD_TCGA-IB-7651-01.png
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exon_skip_435729_PAAD_TCGA-IB-7651-01.png
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exon_skip_441705_PAAD_TCGA-IB-7651-01.png
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exon_skip_448879_PAAD_TCGA-IB-7651-01.png
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exon_skip_468347_PAAD_TCGA-IB-7651-01.png
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exon_skip_494000_PAAD_TCGA-IB-7651-01.png
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exon_skip_494029_PAAD_TCGA-IB-7651-01.png
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exon_skip_499410_PAAD_TCGA-IB-7651-01.png
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exon_skip_499695_PAAD_TCGA-IB-7651-01.png
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exon_skip_499697_PAAD_TCGA-IB-7651-01.png
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exon_skip_79905_PAAD_TCGA-IB-7651-01.png
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exon_skip_80096_PAAD_TCGA-IB-7651-01.png
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exon_skip_95924_PAAD_TCGA-IB-7651-01.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
MERO84_LUNG132224146132224259132224167132224167Frame_Shift_DelA-p.N1636fs
SNU1040_LARGE_INTESTINE132224146132224259132224254132224254Frame_Shift_DelA-p.K1666fs
DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE132153382132153462132153398132153398Missense_MutationACp.N2H
SNU81_LARGE_INTESTINE132153382132153462132153444132153444Missense_MutationACp.K17T
NCIH1573_LUNG132169491132169691132169573132169573Missense_MutationTGp.I140S
MCC13_SKIN132169491132169691132169653132169653Missense_MutationGAp.G167R
SNU761_LIVER132179894132180049132179918132179918Missense_MutationAGp.I528V
SMZ1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE132179894132180049132179925132179925Missense_MutationCTp.S530L
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE132179894132180049132179960132179960Missense_MutationCAp.P542T
A549_LUNG132179894132180049132179971132179971Missense_MutationGTp.E545D
NCIH524_LUNG132179894132180049132180032132180032Missense_MutationCAp.L566I
NCIH2803_PLEURA132181311132181367132181361132181361Missense_MutationAGp.I588M
LS411N_LARGE_INTESTINE132182540132182661132182569132182569Missense_MutationGAp.M600I
OC316_OVARY132182540132182661132182619132182619Missense_MutationCTp.A617V
OC314_OVARY132182540132182661132182619132182619Missense_MutationCTp.A617V
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE132185143132185238132185201132185201Missense_MutationAGp.D676G
SW626_OVARY132207142132207296132207278132207278Missense_MutationAGp.N1135S
NCIH2066_LUNG132218578132218652132218641132218641Missense_MutationAGp.M1469V
ABC1_LUNG132224146132224259132224169132224169Missense_MutationCAp.N1636K
HT1376_URINARY_TRACT132224146132224259132224187132224187Missense_MutationGCp.L1642F
HCT15_LARGE_INTESTINE132224146132224259132224207132224207Missense_MutationGTp.R1649I
BT16_SOFT_TISSUE132235266132235340132235296132235296Missense_MutationCTp.A1839V
HEC251_ENDOMETRIUM132235266132235340132235313132235313Missense_MutationACp.K1845Q
OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE132242001132242043132242018132242018Missense_MutationAGp.Q1954R
KARPAS1106P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE132242384132242557132242405132242405Missense_MutationGAp.V1970M
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE132242384132242557132242445132242445Missense_MutationTCp.V1983A
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE132242384132242557132242511132242511Missense_MutationCTp.A2005V
SHP77_LUNG132242384132242557132242513132242513Missense_MutationCGp.L2006V
NCIH2087_LUNG132165319132165394132165392132165392Nonsense_MutationCTp.Q48*
HEC59_ENDOMETRIUM132224146132224259132224254132224254Nonsense_MutationATp.K1665*
CCK81_LARGE_INTESTINE132224146132224259132224254132224254Nonsense_MutationATp.K1665*
BICR18_UPPER_AERODIGESTIVE_TRACT132207142132207296132207142132207142Splice_SiteCTp.L1090L

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DNAJC13

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 DNAJC13


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DNAJC13


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RelatedDrugs for DNAJC13

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for DNAJC13

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource