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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 PRRC2B

check button Gene summary
Gene informationGene symbol

PRRC2B

Gene ID

84726

Gene nameproline rich coiled-coil 2B
SynonymsBAT2L|BAT2L1|KIAA0515|LQFBS-1
Cytomap

9q34.13

Type of geneprotein-coding
Descriptionprotein PRRC2BHLA-B associated transcript 2-likeHLA-B-associated transcript 2-like 1proline-rich coiled-coil protein 2Bprotein BAT2-like 1
Modification date20180523
UniProtAcc

Q5JSZ5

ContextPubMed: PRRC2B [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 PRRC2B 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 PRRC2B

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 PRRC2B

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_5004999134305531:134305646:134308003:134308181:134312006:134312109134308003:134308181ENSG00000130723.13ENST00000405995.1,ENST00000458550.1,ENST00000357304.4
exon_skip_5005009134308003:134308181:134312006:134312109:134314375:134314448134312006:134312109ENSG00000130723.13ENST00000405995.1,ENST00000458550.1,ENST00000357304.4
exon_skip_5005059134319612:134319715:134321787:134322029:134322471:134322593134321787:134322029ENSG00000130723.13ENST00000405995.1,ENST00000458550.1,ENST00000357304.4
exon_skip_5005069134322486:134322593:134323048:134323191:134330462:134330553134323048:134323191ENSG00000130723.13ENST00000405995.1,ENST00000458550.1,ENST00000372249.1,ENST00000357304.4
exon_skip_5005079134323048:134323191:134330462:134330553:134334550:134334743134330462:134330553ENSG00000130723.13ENST00000405995.1,ENST00000458550.1,ENST00000372249.1,ENST00000357304.4
exon_skip_5005109134330529:134330553:134334550:134334743:134340149:134340372134334550:134334743ENSG00000130723.13ENST00000405995.1,ENST00000458550.1,ENST00000372249.1,ENST00000357304.4
exon_skip_5005159134340152:134340465:134342949:134343140:134346174:134346178134342949:134343140ENSG00000130723.13ENST00000405995.1,ENST00000458550.1,ENST00000372249.1,ENST00000422467.1,ENST00000357304.4
exon_skip_5005189134346174:134346370:134348894:134349111:134353130:134353336134348894:134349111ENSG00000130723.13ENST00000405995.1,ENST00000458550.1
exon_skip_5005209134348980:134349111:134349840:134351922:134353130:134353291134349840:134351922ENSG00000130723.13ENST00000372249.1,ENST00000357304.4
exon_skip_5005229134353130:134353336:134353860:134354006:134354638:134354780134353860:134354006ENSG00000130723.13ENST00000405995.1,ENST00000458550.1,ENST00000451855.1,ENST00000372249.1,ENST00000357304.4
exon_skip_5005269134353860:134354006:134354638:134354780:134357112:134357195134354638:134354780ENSG00000130723.13ENST00000405995.1,ENST00000458550.1,ENST00000451855.1,ENST00000372249.1,ENST00000357304.4
exon_skip_5005279134357112:134357195:134357757:134357949:134358096:134358294134357757:134357949ENSG00000130723.13ENST00000405995.1,ENST00000458550.1,ENST00000372249.1,ENST00000357304.4
exon_skip_5005289134357112:134357195:134357760:134357949:134358096:134358294134357760:134357949ENSG00000130723.13ENST00000451855.1
exon_skip_5005319134360076:134360177:134360334:134360527:134361471:134361569134360334:134360527ENSG00000130723.13ENST00000405995.1,ENST00000458550.1,ENST00000372249.1,ENST00000357304.4
exon_skip_5005369134360334:134360527:134361471:134361569:134362553:134362681134361471:134361569ENSG00000130723.13ENST00000405995.1,ENST00000458550.1,ENST00000372249.1,ENST00000357304.4
exon_skip_5005449134362678:134362681:134363242:134363483:134366811:134366967134363242:134363483ENSG00000130723.13ENST00000405995.1,ENST00000458550.1,ENST00000320547.7,ENST00000372249.1,ENST00000357304.4
exon_skip_5005489134367555:134367647:134369791:134369873:134371126:134371250134369791:134369873ENSG00000130723.13ENST00000405995.1,ENST00000458550.1,ENST00000357304.4

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

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Exon skipping events with PSIs in GTEx for PRRC2B

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_5004999134305531:134305646:134308003:134308181:134312006:134312109134308003:134308181ENSG00000130723.13ENST00000405995.1,ENST00000357304.4,ENST00000458550.1
exon_skip_5005009134308003:134308181:134312006:134312109:134314375:134314448134312006:134312109ENSG00000130723.13ENST00000405995.1,ENST00000357304.4,ENST00000458550.1
exon_skip_5005059134319612:134319715:134321787:134322029:134322471:134322593134321787:134322029ENSG00000130723.13ENST00000405995.1,ENST00000357304.4,ENST00000458550.1
exon_skip_5005069134322486:134322593:134323048:134323191:134330462:134330553134323048:134323191ENSG00000130723.13ENST00000405995.1,ENST00000357304.4,ENST00000458550.1,ENST00000372249.1
exon_skip_5005079134323048:134323191:134330462:134330553:134334550:134334743134330462:134330553ENSG00000130723.13ENST00000405995.1,ENST00000357304.4,ENST00000458550.1,ENST00000372249.1
exon_skip_5005109134330529:134330553:134334550:134334743:134340149:134340372134334550:134334743ENSG00000130723.13ENST00000405995.1,ENST00000357304.4,ENST00000458550.1,ENST00000372249.1
exon_skip_5005159134340152:134340465:134342949:134343140:134346174:134346178134342949:134343140ENSG00000130723.13ENST00000405995.1,ENST00000357304.4,ENST00000458550.1,ENST00000372249.1,ENST00000422467.1
exon_skip_5005189134346174:134346370:134348894:134349111:134353130:134353336134348894:134349111ENSG00000130723.13ENST00000405995.1,ENST00000458550.1
exon_skip_5005209134348980:134349111:134349840:134351922:134353130:134353291134349840:134351922ENSG00000130723.13ENST00000357304.4,ENST00000372249.1
exon_skip_5005229134353130:134353336:134353860:134354006:134354638:134354780134353860:134354006ENSG00000130723.13ENST00000405995.1,ENST00000357304.4,ENST00000458550.1,ENST00000372249.1,ENST00000451855.1
exon_skip_5005269134353860:134354006:134354638:134354780:134357112:134357195134354638:134354780ENSG00000130723.13ENST00000405995.1,ENST00000357304.4,ENST00000458550.1,ENST00000372249.1,ENST00000451855.1
exon_skip_5005279134357112:134357195:134357757:134357949:134358096:134358294134357757:134357949ENSG00000130723.13ENST00000405995.1,ENST00000357304.4,ENST00000458550.1,ENST00000372249.1
exon_skip_5005289134357112:134357195:134357760:134357949:134358096:134358294134357760:134357949ENSG00000130723.13ENST00000451855.1
exon_skip_5005319134360076:134360177:134360334:134360527:134361471:134361569134360334:134360527ENSG00000130723.13ENST00000405995.1,ENST00000357304.4,ENST00000458550.1,ENST00000372249.1
exon_skip_5005369134360334:134360527:134361471:134361569:134362553:134362681134361471:134361569ENSG00000130723.13ENST00000405995.1,ENST00000357304.4,ENST00000458550.1,ENST00000372249.1
exon_skip_5005449134362678:134362681:134363242:134363483:134366811:134366967134363242:134363483ENSG00000130723.13ENST00000405995.1,ENST00000357304.4,ENST00000458550.1,ENST00000372249.1,ENST00000320547.7
exon_skip_5005489134367555:134367647:134369791:134369873:134371126:134371250134369791:134369873ENSG00000130723.13ENST00000405995.1,ENST00000357304.4,ENST00000458550.1

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 PRRC2B

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
ENST00000357304134308003134308181Frame-shift
ENST00000357304134312006134312109Frame-shift
ENST00000357304134321787134322029Frame-shift
ENST00000357304134323048134323191Frame-shift
ENST00000357304134330462134330553Frame-shift
ENST00000357304134334550134334743Frame-shift
ENST00000357304134342949134343140Frame-shift
ENST00000357304134353860134354006Frame-shift
ENST00000357304134354638134354780Frame-shift
ENST00000357304134360334134360527Frame-shift
ENST00000357304134361471134361569Frame-shift
ENST00000357304134363242134363483Frame-shift
ENST00000357304134369791134369873Frame-shift
ENST00000357304134349840134351922In-frame
ENST00000357304134357757134357949In-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
ENST00000357304134308003134308181Frame-shift
ENST00000357304134312006134312109Frame-shift
ENST00000357304134321787134322029Frame-shift
ENST00000357304134323048134323191Frame-shift
ENST00000357304134330462134330553Frame-shift
ENST00000357304134334550134334743Frame-shift
ENST00000357304134342949134343140Frame-shift
ENST00000357304134353860134354006Frame-shift
ENST00000357304134354638134354780Frame-shift
ENST00000357304134360334134360527Frame-shift
ENST00000357304134361471134361569Frame-shift
ENST00000357304134363242134363483Frame-shift
ENST00000357304134369791134369873Frame-shift
ENST00000357304134349840134351922In-frame
ENST00000357304134357757134357949In-frame

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Infer the effects of exon skipping event on protein functional features for PRRC2B

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
ENST00000357304110592229134349840134351922238044617751468
ENST000003573041105922291343577571343579495039523016611725

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
ENST00000357304110592229134349840134351922238044617751468
ENST000003573041105922291343577571343579495039523016611725

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
Q5JSZ5775146811903Alternative sequenceID=VSP_022760;Note=In isoform 2%2C isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:14702039,PMID:15489334
Q5JSZ577514687751468Alternative sequenceID=VSP_039905;Note=In isoform 1. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5JSZ5775146812229ChainID=PRO_0000274481;Note=Protein PRRC2B
Q5JSZ57751468963963Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25772364,ECO:0000244|PubMed:28112733;Dbxref=PMID:25772364,PMID:28112733
Q5JSZ5775146811321132Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
Q5JSZ5775146812311231Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
Q5JSZ57751468936936Sequence conflictNote=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5JSZ57751468981981Sequence conflictNote=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5JSZ5775146810441044Sequence conflictNote=M->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5JSZ5775146812761276Sequence conflictNote=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5JSZ51661172511903Alternative sequenceID=VSP_022760;Note=In isoform 2%2C isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:14702039,PMID:15489334
Q5JSZ51661172512229ChainID=PRO_0000274481;Note=Protein PRRC2B
Q5JSZ51661172516751675Natural variantID=VAR_030290;Note=L->P;Dbxref=dbSNP:rs10751478


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
Q5JSZ5775146811903Alternative sequenceID=VSP_022760;Note=In isoform 2%2C isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:14702039,PMID:15489334
Q5JSZ577514687751468Alternative sequenceID=VSP_039905;Note=In isoform 1. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5JSZ5775146812229ChainID=PRO_0000274481;Note=Protein PRRC2B
Q5JSZ57751468963963Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25772364,ECO:0000244|PubMed:28112733;Dbxref=PMID:25772364,PMID:28112733
Q5JSZ5775146811321132Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
Q5JSZ5775146812311231Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
Q5JSZ57751468936936Sequence conflictNote=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5JSZ57751468981981Sequence conflictNote=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5JSZ5775146810441044Sequence conflictNote=M->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5JSZ5775146812761276Sequence conflictNote=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q5JSZ51661172511903Alternative sequenceID=VSP_022760;Note=In isoform 2%2C isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:14702039,PMID:15489334
Q5JSZ51661172512229ChainID=PRO_0000274481;Note=Protein PRRC2B
Q5JSZ51661172516751675Natural variantID=VAR_030290;Note=L->P;Dbxref=dbSNP:rs10751478


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SNVs in the skipped exons for PRRC2B

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.
PRRC2B_ESCA_exon_skip_500520_psi_boxplot.png
boxplot
PRRC2B_HNSC_exon_skip_500520_psi_boxplot.png
boxplot
PRRC2B_LIHC_exon_skip_500520_psi_boxplot.png
boxplot
PRRC2B_PRAD_exon_skip_500520_psi_boxplot.png
boxplot
PRRC2B_SKCM_exon_skip_500520_psi_boxplot.png
boxplot
PRRC2B_STAD_exon_skip_500520_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_500499
134308004134308181134308161134308161Frame_Shift_DelG-p.Q91fs
LIHCTCGA-G3-A3CJ-01exon_skip_500507
134330463134330553134330548134330548Frame_Shift_DelA-p.P402fs
LIHCTCGA-G3-A3CJ-01exon_skip_500518
134348895134349111134348933134348933Frame_Shift_DelG-p.G716fs
LIHCTCGA-DD-A39Y-01exon_skip_500518
134348895134349111134348979134348979Frame_Shift_DelA-p.Q731fs
LIHCTCGA-DD-A39Y-01exon_skip_500518
134348895134349111134348994134348994Frame_Shift_DelC-p.T736fs
LUADTCGA-64-1678-01exon_skip_500520
134349841134351922134349850134349851Frame_Shift_DelCT-p.SS778fs
ESCATCGA-L5-A43J-01exon_skip_500520
134349841134351922134350640134350640Frame_Shift_DelC-p.M1044fs
ESCATCGA-L5-A43J-01exon_skip_500520
134349841134351922134350640134350640Frame_Shift_DelC-p.P1043fs
ESCATCGA-L5-A43J-01exon_skip_500520
134349841134351922134350640134350640Frame_Shift_DelC-p.V1041fs
LIHCTCGA-DD-A39Y-01exon_skip_500520
134349841134351922134350710134350710Frame_Shift_DelG-p.R1065fs
LIHCTCGA-DD-A3A0-01exon_skip_500520
134349841134351922134351189134351189Frame_Shift_DelC-p.P1225fs
STADTCGA-BR-6852-01exon_skip_500520
134349841134351922134351425134351425Frame_Shift_DelC-p.R1303fs
STADTCGA-HU-A4GU-01exon_skip_500520
134349841134351922134351425134351425Frame_Shift_DelC-p.R1303fs
UCECTCGA-D1-A17A-01exon_skip_500520
134349841134351922134351425134351425Frame_Shift_DelC-p.R1303fs
ESCATCGA-L5-A43J-01exon_skip_500520
134349841134351922134351550134351551Frame_Shift_DelTG-p.C1346fs
ESCATCGA-L5-A43J-01exon_skip_500520
134349841134351922134351550134351551Frame_Shift_DelTG-p.L1345fs
LUADTCGA-55-7903-01exon_skip_500522
134353861134354006134353948134353948Frame_Shift_DelC-p.T1567fs
LIHCTCGA-DD-A39Y-01exon_skip_500528
exon_skip_500527
134357758134357949134357760134357760Frame_Shift_DelG-p.Q1662fs
SKCMTCGA-FS-A1ZT-06exon_skip_500520
134349841134351922134350033134350034Frame_Shift_Ins-GCp.DR839fs
LIHCTCGA-DD-A4NF-01exon_skip_500520
134349841134351922134351321134351322Frame_Shift_Ins-Gp.G1269fs
LIHCTCGA-DD-A4NF-01exon_skip_500520
134349841134351922134351321134351322Frame_Shift_Ins-Gp.R1269fs
ACCTCGA-OR-A5J5-01exon_skip_500520
134349841134351922134351684134351685Frame_Shift_Ins-Gp.G1390fs
KIRPTCGA-PJ-A5Z9-01exon_skip_500520
134349841134351922134351684134351685Frame_Shift_Ins-Gp.R1390fs
SKCMTCGA-GN-A4U7-06exon_skip_500522
134353861134354006134353994134353995Frame_Shift_Ins-CAGGCp.EG1582fs
LIHCTCGA-BC-A112-01exon_skip_500526
134354639134354780134354688134354689Frame_Shift_Ins-Ap.E1603fs
HNSCTCGA-CR-7371-01exon_skip_500499
134308004134308181134308156134308156Nonsense_MutationATp.K90*
BLCATCGA-DK-A2I4-01exon_skip_500499
134308004134308181134308165134308165Nonsense_MutationCTp.Q93*
LUADTCGA-55-8085-01exon_skip_500500
134312007134312109134312026134312026Nonsense_MutationCTp.Q105*
SKCMTCGA-EE-A2MI-06exon_skip_500505
134321788134322029134321958134321958Nonsense_MutationCTp.R262*
SKCMTCGA-EE-A2MI-06exon_skip_500505
134321788134322029134321958134321958Nonsense_MutationCTp.R262X
UCECTCGA-AX-A0J0-01exon_skip_500520
134349841134351922134350019134350019Nonsense_MutationGTp.E835*
PRADTCGA-XK-AAIW-01exon_skip_500520
134349841134351922134351102134351102Nonsense_MutationCTp.R1196*
HNSCTCGA-CV-A461-01exon_skip_500520
134349841134351922134351501134351501Nonsense_MutationGTp.E1329*
LUADTCGA-78-7536-01exon_skip_500526
134354639134354780134354714134354714Nonsense_MutationGTp.E1612*
KIRCTCGA-CZ-5456-01exon_skip_500528
exon_skip_500527
134357758134357949134357757134357757Splice_SiteGA.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
PRRC2B_134348980_134349111_134349840_134351922_134353130_134353291_TCGA-XK-AAIW-01Sample: TCGA-XK-AAIW-01
Cancer type: PRAD
ESID: exon_skip_500520
Skipped exon start: 134349841
Skipped exon end: 134351922
Mutation start: 134351102
Mutation end: 134351102
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: T
AAchange: p.R1196*
exon_skip_101989_PRAD_TCGA-XK-AAIW-01.png
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exon_skip_123519_PRAD_TCGA-XK-AAIW-01.png
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exon_skip_141370_PRAD_TCGA-XK-AAIW-01.png
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exon_skip_307491_PRAD_TCGA-XK-AAIW-01.png
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exon_skip_312596_PRAD_TCGA-XK-AAIW-01.png
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exon_skip_312597_PRAD_TCGA-XK-AAIW-01.png
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exon_skip_312599_PRAD_TCGA-XK-AAIW-01.png
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exon_skip_382100_PRAD_TCGA-XK-AAIW-01.png
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exon_skip_500520_PRAD_TCGA-XK-AAIW-01.png
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exon_skip_66767_PRAD_TCGA-XK-AAIW-01.png
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exon_skip_74728_PRAD_TCGA-XK-AAIW-01.png
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PRRC2B_134348980_134349111_134349840_134351922_134353130_134353291_TCGA-AX-A0J0-01Sample: TCGA-AX-A0J0-01
Cancer type: UCEC
ESID: exon_skip_500520
Skipped exon start: 134349841
Skipped exon end: 134351922
Mutation start: 134350019
Mutation end: 134350019
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: T
AAchange: p.E835*
exon_skip_114672_UCEC_TCGA-AX-A0J0-01.png
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exon_skip_145114_UCEC_TCGA-AX-A0J0-01.png
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exon_skip_148176_UCEC_TCGA-AX-A0J0-01.png
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exon_skip_148178_UCEC_TCGA-AX-A0J0-01.png
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exon_skip_26303_UCEC_TCGA-AX-A0J0-01.png
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exon_skip_316320_UCEC_TCGA-AX-A0J0-01.png
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exon_skip_366628_UCEC_TCGA-AX-A0J0-01.png
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exon_skip_422781_UCEC_TCGA-AX-A0J0-01.png
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exon_skip_440271_UCEC_TCGA-AX-A0J0-01.png
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exon_skip_47562_UCEC_TCGA-AX-A0J0-01.png
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exon_skip_500520_UCEC_TCGA-AX-A0J0-01.png
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exon_skip_60290_UCEC_TCGA-AX-A0J0-01.png
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exon_skip_60294_UCEC_TCGA-AX-A0J0-01.png
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PRRC2B_134348980_134349111_134349840_134351922_134353130_134353291_TCGA-L5-A43J-01Sample: TCGA-L5-A43J-01
Cancer type: ESCA
ESID: exon_skip_500520
Skipped exon start: 134349841
Skipped exon end: 134351922
Mutation start: 134350640
Mutation end: 134350640
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.V1041fs
PRRC2B_134348980_134349111_134349840_134351922_134353130_134353291_TCGA-L5-A43J-01Sample: TCGA-L5-A43J-01
Cancer type: ESCA
ESID: exon_skip_500520
Skipped exon start: 134349841
Skipped exon end: 134351922
Mutation start: 134350640
Mutation end: 134350640
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.P1043fs
PRRC2B_134348980_134349111_134349840_134351922_134353130_134353291_TCGA-L5-A43J-01Sample: TCGA-L5-A43J-01
Cancer type: ESCA
ESID: exon_skip_500520
Skipped exon start: 134349841
Skipped exon end: 134351922
Mutation start: 134351550
Mutation end: 134351551
Mutation type: Frame_Shift_Del
Reference seq: TG
Mutation seq: -
AAchange: p.L1345fs
PRRC2B_134348980_134349111_134349840_134351922_134353130_134353291_TCGA-L5-A43J-01Sample: TCGA-L5-A43J-01
Cancer type: ESCA
ESID: exon_skip_500520
Skipped exon start: 134349841
Skipped exon end: 134351922
Mutation start: 134350640
Mutation end: 134350640
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.M1044fs
PRRC2B_134348980_134349111_134349840_134351922_134353130_134353291_TCGA-L5-A43J-01Sample: TCGA-L5-A43J-01
Cancer type: ESCA
ESID: exon_skip_500520
Skipped exon start: 134349841
Skipped exon end: 134351922
Mutation start: 134351550
Mutation end: 134351551
Mutation type: Frame_Shift_Del
Reference seq: TG
Mutation seq: -
AAchange: p.C1346fs
exon_skip_131502_ESCA_TCGA-L5-A43J-01.png
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exon_skip_142268_ESCA_TCGA-L5-A43J-01.png
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exon_skip_30909_ESCA_TCGA-L5-A43J-01.png
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exon_skip_30910_ESCA_TCGA-L5-A43J-01.png
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exon_skip_30912_ESCA_TCGA-L5-A43J-01.png
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exon_skip_319572_ESCA_TCGA-L5-A43J-01.png
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exon_skip_325050_ESCA_TCGA-L5-A43J-01.png
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exon_skip_342500_ESCA_TCGA-L5-A43J-01.png
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exon_skip_343170_ESCA_TCGA-L5-A43J-01.png
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exon_skip_344507_ESCA_TCGA-L5-A43J-01.png
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exon_skip_390317_ESCA_TCGA-L5-A43J-01.png
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exon_skip_390320_ESCA_TCGA-L5-A43J-01.png
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exon_skip_390321_ESCA_TCGA-L5-A43J-01.png
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exon_skip_445696_ESCA_TCGA-L5-A43J-01.png
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exon_skip_467372_ESCA_TCGA-L5-A43J-01.png
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exon_skip_489594_ESCA_TCGA-L5-A43J-01.png
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exon_skip_500520_ESCA_TCGA-L5-A43J-01.png
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exon_skip_504965_ESCA_TCGA-L5-A43J-01.png
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exon_skip_71341_ESCA_TCGA-L5-A43J-01.png
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PRRC2B_134348980_134349111_134349840_134351922_134353130_134353291_TCGA-DD-A4NF-01Sample: TCGA-DD-A4NF-01
Cancer type: LIHC
ESID: exon_skip_500520
Skipped exon start: 134349841
Skipped exon end: 134351922
Mutation start: 134351321
Mutation end: 134351322
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: G
AAchange: p.R1269fs
PRRC2B_134348980_134349111_134349840_134351922_134353130_134353291_TCGA-DD-A4NF-01Sample: TCGA-DD-A4NF-01
Cancer type: LIHC
ESID: exon_skip_500520
Skipped exon start: 134349841
Skipped exon end: 134351922
Mutation start: 134351321
Mutation end: 134351322
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: G
AAchange: p.G1269fs
exon_skip_500520_LIHC_TCGA-DD-A4NF-01.png
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PRRC2B_134348980_134349111_134349840_134351922_134353130_134353291_TCGA-FS-A1ZT-06Sample: TCGA-FS-A1ZT-06
Cancer type: SKCM
ESID: exon_skip_500520
Skipped exon start: 134349841
Skipped exon end: 134351922
Mutation start: 134350033
Mutation end: 134350034
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: GC
AAchange: p.DR839fs
exon_skip_500520_SKCM_TCGA-FS-A1ZT-06.png
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PRRC2B_134348980_134349111_134349840_134351922_134353130_134353291_TCGA-BR-6852-01Sample: TCGA-BR-6852-01
Cancer type: STAD
ESID: exon_skip_500520
Skipped exon start: 134349841
Skipped exon end: 134351922
Mutation start: 134351425
Mutation end: 134351425
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.R1303fs
exon_skip_347530_STAD_TCGA-BR-6852-01.png
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exon_skip_374468_STAD_TCGA-BR-6852-01.png
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exon_skip_374469_STAD_TCGA-BR-6852-01.png
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exon_skip_383994_STAD_TCGA-BR-6852-01.png
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exon_skip_425876_STAD_TCGA-BR-6852-01.png
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exon_skip_468121_STAD_TCGA-BR-6852-01.png
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exon_skip_500520_STAD_TCGA-BR-6852-01.png
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exon_skip_69752_STAD_TCGA-BR-6852-01.png
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PRRC2B_134348980_134349111_134349840_134351922_134353130_134353291_TCGA-HU-A4GU-01Sample: TCGA-HU-A4GU-01
Cancer type: STAD
ESID: exon_skip_500520
Skipped exon start: 134349841
Skipped exon end: 134351922
Mutation start: 134351425
Mutation end: 134351425
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.R1303fs
exon_skip_109771_STAD_TCGA-HU-A4GU-01.png
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exon_skip_133402_STAD_TCGA-HU-A4GU-01.png
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exon_skip_133403_STAD_TCGA-HU-A4GU-01.png
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exon_skip_146776_STAD_TCGA-HU-A4GU-01.png
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exon_skip_147024_STAD_TCGA-HU-A4GU-01.png
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exon_skip_149455_STAD_TCGA-HU-A4GU-01.png
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exon_skip_335090_STAD_TCGA-HU-A4GU-01.png
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exon_skip_382354_STAD_TCGA-HU-A4GU-01.png
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exon_skip_433982_STAD_TCGA-HU-A4GU-01.png
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exon_skip_433985_STAD_TCGA-HU-A4GU-01.png
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exon_skip_437417_STAD_TCGA-HU-A4GU-01.png
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exon_skip_437418_STAD_TCGA-HU-A4GU-01.png
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exon_skip_454428_STAD_TCGA-HU-A4GU-01.png
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exon_skip_454431_STAD_TCGA-HU-A4GU-01.png
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exon_skip_454433_STAD_TCGA-HU-A4GU-01.png
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exon_skip_465824_STAD_TCGA-HU-A4GU-01.png
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exon_skip_467518_STAD_TCGA-HU-A4GU-01.png
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exon_skip_480057_STAD_TCGA-HU-A4GU-01.png
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exon_skip_485377_STAD_TCGA-HU-A4GU-01.png
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exon_skip_500520_STAD_TCGA-HU-A4GU-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
EFO27_OVARY134321788134322029134321933134321934Frame_Shift_DelCT-p.S254fs
SNU520_STOMACH134349841134351922134349878134349878Frame_Shift_DelG-p.G789fs
BICR18_UPPER_AERODIGESTIVE_TRACT134349841134351922134350035134350036Frame_Shift_DelCA-p.A840fs
RCCJW_KIDNEY134349841134351922134351219134351223Frame_Shift_DelTCTTG-p.SW1235fs
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE134349841134351922134351425134351425Frame_Shift_DelC-p.R1303fs
BICR18_UPPER_AERODIGESTIVE_TRACT134349841134351922134350032134350033Frame_Shift_Ins-GGp.DA839fs
SNU324_PANCREAS134349841134351922134350786134350787Frame_Shift_Ins-Gp.G1091fs
LN215_CENTRAL_NERVOUS_SYSTEM134357761134357949134357869134357871In_Frame_DelGAG-p.E1700del
LN215_CENTRAL_NERVOUS_SYSTEM134357758134357949134357869134357871In_Frame_DelGAG-p.E1700del
A1207_CENTRAL_NERVOUS_SYSTEM134349841134351922134350707134350708In_Frame_Ins-CCGGGGp.1069_1070insGR
SKUT1_SOFT_TISSUE134308004134308181134308043134308043Missense_MutationCTp.A52V
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE134308004134308181134308055134308055Missense_MutationGAp.R56H
PANC0403_PANCREAS134312007134312109134312018134312018Missense_MutationCTp.T102M
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE134312007134312109134312042134312042Missense_MutationTAp.L110Q
BICR18_UPPER_AERODIGESTIVE_TRACT134312007134312109134312042134312042Missense_MutationTAp.L110Q
S117_SOFT_TISSUE134312007134312109134312042134312042Missense_MutationTAp.L110Q
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE134312007134312109134312090134312090Missense_MutationCTp.T126I
NCIH1581_LUNG134321788134322029134321856134321856Missense_MutationAGp.T228A
NCIH2077_LUNG134321788134322029134321856134321856Missense_MutationAGp.T228A
JHH7_LIVER134323049134323191134323083134323083Missense_MutationCTp.R338C
JMSU1_URINARY_TRACT134323049134323191134323135134323135Missense_MutationCTp.A355V
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE134323049134323191134323148134323148Missense_MutationGTp.K359N
NCIH2110_LUNG134334551134334743134334717134334717Missense_MutationGTp.G460C
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE134342950134343140134343118134343118Missense_MutationGAp.R630H
HCC44_LUNG134348895134349111134348907134348907Missense_MutationCAp.P707H
SNU840_OVARY134348895134349111134348946134348946Missense_MutationGAp.R720H
HS688AT_FIBROBLAST134348895134349111134348985134348985Missense_MutationGTp.R733I
GCT_SOFT_TISSUE134348895134349111134348996134348996Missense_MutationCTp.P737S
NCIH2087_LUNG134348895134349111134349105134349105Missense_MutationGCp.R773P
SNU324_PANCREAS134349841134351922134349858134349858Missense_MutationCGp.S781C
DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE134349841134351922134349884134349884Missense_MutationGAp.V790I
BE2M17_AUTONOMIC_GANGLIA134349841134351922134349897134349897Missense_MutationGAp.R794H
SKNBE2_AUTONOMIC_GANGLIA134349841134351922134349897134349897Missense_MutationGAp.R794H
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE134349841134351922134349927134349927Missense_MutationATp.Y804F
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE134349841134351922134349927134349927Missense_MutationATp.Y804F
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE134349841134351922134349927134349927Missense_MutationATp.Y804F
S117_SOFT_TISSUE134349841134351922134349927134349927Missense_MutationATp.Y804F
BICR18_UPPER_AERODIGESTIVE_TRACT134349841134351922134349927134349927Missense_MutationATp.Y804F
KYSE150_OESOPHAGUS134349841134351922134349930134349930Missense_MutationTCp.L805S
MORCPR_LUNG134349841134351922134350037134350037Missense_MutationGAp.G841S
NCIH661_LUNG134349841134351922134350047134350047Missense_MutationGCp.G844A
MORCPR_LUNG134349841134351922134350067134350067Missense_MutationAGp.R851G
COLO792_SKIN134349841134351922134350166134350166Missense_MutationCTp.H884Y
CAL33_UPPER_AERODIGESTIVE_TRACT134349841134351922134350430134350430Missense_MutationCTp.R972W
HEC108_ENDOMETRIUM134349841134351922134350493134350493Missense_MutationGAp.A993T
NCIH1573_LUNG134349841134351922134350502134350502Missense_MutationGAp.A996T
BICR16_UPPER_AERODIGESTIVE_TRACT134349841134351922134350550134350550Missense_MutationAGp.T1012A
STS0421_SOFT_TISSUE134349841134351922134350551134350551Missense_MutationCTp.T1012I
LU134A_LUNG134349841134351922134350559134350559Missense_MutationCTp.R1015C
HEC108_ENDOMETRIUM134349841134351922134350586134350586Missense_MutationGAp.E1024K
HEC151_ENDOMETRIUM134349841134351922134350600134350600Missense_MutationGTp.K1028N
SNU81_LARGE_INTESTINE134349841134351922134350653134350653Missense_MutationGTp.R1046I
OCILY12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE134349841134351922134350715134350715Missense_MutationCTp.R1067W
TE4_OESOPHAGUS134349841134351922134350716134350716Missense_MutationGAp.R1067Q
GP2D_LARGE_INTESTINE134349841134351922134350721134350721Missense_MutationCTp.R1069C
GP5D_LARGE_INTESTINE134349841134351922134350721134350721Missense_MutationCTp.R1069C
LS180_LARGE_INTESTINE134349841134351922134350751134350751Missense_MutationCTp.R1079W
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE134349841134351922134350752134350752Missense_MutationGTp.R1079L
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE134349841134351922134350806134350806Missense_MutationGAp.R1097H
C33A_CERVIX134349841134351922134350835134350835Missense_MutationGAp.G1107S
TGBC11TKB_STOMACH134349841134351922134350950134350950Missense_MutationCAp.P1145H
SW780_URINARY_TRACT134349841134351922134351070134351070Missense_MutationCGp.S1185C
RL952_ENDOMETRIUM134349841134351922134351084134351084Missense_MutationGAp.G1190S
MFM223_BREAST134349841134351922134351166134351166Missense_MutationGAp.R1217K
MCF7_BREAST134349841134351922134351270134351270Missense_MutationGAp.D1252N
CCK81_LARGE_INTESTINE134349841134351922134351309134351309Missense_MutationGAp.A1265T
NCIH1650_LUNG134349841134351922134351342134351342Missense_MutationGAp.A1276T
MCC13_SKIN134349841134351922134351409134351409Missense_MutationCTp.P1298L
HS751T_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE134349841134351922134351496134351496Missense_MutationGAp.G1327E
CCFSTTG1_CENTRAL_NERVOUS_SYSTEM134349841134351922134351568134351568Missense_MutationGAp.S1351N
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE134349841134351922134351586134351586Missense_MutationGTp.R1357M
CAPAN2_PANCREAS134349841134351922134351618134351618Missense_MutationGAp.D1368N
HMY1_SKIN134349841134351922134351733134351733Missense_MutationCTp.S1406L
SNU213_PANCREAS134349841134351922134351849134351849Missense_MutationGTp.V1445F
GP5D_LARGE_INTESTINE134349841134351922134351904134351904Missense_MutationCTp.T1463M
NCIH1417_LUNG134353861134354006134353881134353881Missense_MutationGTp.G1545W
K2_SKIN134353861134354006134353915134353915Missense_MutationCTp.S1556F
NCIH810_LUNG134353861134354006134353938134353938Missense_MutationGAp.E1564K
DU145_PROSTATE134353861134354006134353997134353997Missense_MutationGTp.Q1583H
HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE134353861134354006134354002134354002Missense_MutationTGp.V1585G
EN_ENDOMETRIUM134357761134357949134357816134357816Missense_MutationAGp.E1681G
EN_ENDOMETRIUM134357758134357949134357816134357816Missense_MutationAGp.E1681G
SNUC2A_LARGE_INTESTINE134357761134357949134357821134357821Missense_MutationTCp.S1683P
SNUC2A_LARGE_INTESTINE134357758134357949134357821134357821Missense_MutationTCp.S1683P
SNUC2B_LARGE_INTESTINE134357761134357949134357821134357821Missense_MutationTCp.S1683P
SNUC2B_LARGE_INTESTINE134357758134357949134357821134357821Missense_MutationTCp.S1683P
RCCER_KIDNEY134360335134360527134360446134360446Missense_MutationGAp.G1893R
CROAP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE134360335134360527134360497134360497Missense_MutationGAp.A1910T
IM95_STOMACH134363243134363483134363341134363341Missense_MutationTCp.M2028T
NCIH1105_LUNG134369792134369873134369802134369802Missense_MutationGTp.A2162S
MEG01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE134369792134369873134369820134369820Missense_MutationCGp.P2168A
HCT15_LARGE_INTESTINE134369792134369873134369829134369829Missense_MutationTCp.S2171P
SNU175_LARGE_INTESTINE134369792134369873134369865134369865Missense_MutationGAp.V2183M
HNT34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE134312007134312109134312104134312104Nonsense_MutationCTp.Q131*
KM12_LARGE_INTESTINE134342950134343140134343027134343027Nonsense_MutationCTp.Q600*
CW2_LARGE_INTESTINE134342950134343140134343108134343108Nonsense_MutationCTp.R627*
OE21_OESOPHAGUS134349841134351922134350622134350622Nonsense_MutationCTp.R1036*
RL952_ENDOMETRIUM134349841134351922134351605134351605Nonsense_MutationCGp.Y1363*
BICR18_UPPER_AERODIGESTIVE_TRACT134363243134363483134363243134363243Splice_SiteAGp.R1995R
S117_SOFT_TISSUE134363243134363483134363243134363243Splice_SiteAGp.R1995R
KM12_LARGE_INTESTINE134369792134369873134369793134369793Splice_SiteCTp.P2159S

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PRRC2B

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 PRRC2B


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PRRC2B


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RelatedDrugs for PRRC2B

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 PRRC2B

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