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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 PARPBP

check button Gene summary
Gene informationGene symbol

PARPBP

Gene ID

55010

Gene namePARP1 binding protein
SynonymsAROM|C12orf48|PARI
Cytomap

12q23.2

Type of geneprotein-coding
DescriptionPCNA-interacting partner
Modification date20180519
UniProtAcc

Q9NWS1

ContextPubMed: PARPBP [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 PARPBP 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 PARPBP

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 PARPBP

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_8631012102514024:102514064:102517663:102517819:102542007:102542241102517663:102517819ENSG00000185480.7ENST00000392909.3,ENST00000358383.5,ENST00000537257.1,ENST00000541394.1
exon_skip_8631112102514024:102514064:102517663:102517819:102542012:102542241102517663:102517819ENSG00000185480.7ENST00000392911.2
exon_skip_8631512102517765:102517819:102530914:102531022:102542007:102542241102530914:102531022ENSG00000185480.7ENST00000327680.2
exon_skip_8631712102517765:102517819:102542007:102542241:102547646:102547754102542007:102542241ENSG00000185480.7ENST00000412715.2,ENST00000378128.3,ENST00000358383.5,ENST00000541668.1,ENST00000417507.2
exon_skip_8632012102517765:102517819:102542012:102542241:102547646:102547754102542012:102542241ENSG00000185480.7ENST00000392911.2
exon_skip_8632812102517765:102517819:102547646:102547767:102559506:102559661102547646:102547767ENSG00000185480.7ENST00000457614.2
exon_skip_8632912102517765:102517819:102558215:102558386:102559506:102559661102558215:102558386ENSG00000185480.7ENST00000543784.1
exon_skip_8633412102542012:102542241:102544041:102544149:102545347:102545578102544041:102544149ENSG00000185480.7ENST00000392909.3
exon_skip_8633712102542012:102542241:102545347:102545578:102547646:102547754102545347:102545578ENSG00000185480.7ENST00000541394.1
exon_skip_8633912102542012:102542241:102547646:102547754:102558215:102558386102547646:102547754ENSG00000185480.7ENST00000327680.2,ENST00000412715.2,ENST00000378128.3,ENST00000358383.5,ENST00000392911.2,ENST00000417507.2
exon_skip_8634612102547646:102547754:102558215:102558386:102559506:102559661102558215:102558386ENSG00000185480.7ENST00000327680.2,ENST00000412715.2,ENST00000378128.3,ENST00000358383.5,ENST00000541394.1,ENST00000392911.2,ENST00000417507.2
exon_skip_8635212102559506:102559661:102569260:102569444:102572369:102572548102569260:102569444ENSG00000185480.7ENST00000457614.2,ENST00000327680.2,ENST00000358383.5,ENST00000541394.1,ENST00000392911.2
exon_skip_8636112102559506:102559661:102576326:102576405:102589728:102589865102576326:102576405ENSG00000185480.7ENST00000417507.2
exon_skip_8636412102569260:102569444:102572369:102572548:102576326:102576405102572369:102572548ENSG00000185480.7ENST00000457614.2,ENST00000327680.2,ENST00000358383.5,ENST00000541394.1,ENST00000392911.2
exon_skip_8637012102572369:102572548:102576326:102576405:102589089:102589225102576326:102576405ENSG00000185480.7ENST00000457614.2,ENST00000327680.2,ENST00000358383.5,ENST00000541394.1,ENST00000392911.2
exon_skip_8637312102576326:102576405:102589089:102589225:102589728:102589865102589089:102589225ENSG00000185480.7ENST00000457614.2,ENST00000327680.2,ENST00000358383.5,ENST00000541394.1,ENST00000392911.2

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

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Exon skipping events with PSIs in GTEx for PARPBP

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_8631012102514024:102514064:102517663:102517819:102542007:102542241102517663:102517819ENSG00000185480.7ENST00000541394.1,ENST00000392909.3,ENST00000537257.1,ENST00000358383.5
exon_skip_8631112102514024:102514064:102517663:102517819:102542012:102542241102517663:102517819ENSG00000185480.7ENST00000392911.2
exon_skip_8631512102517765:102517819:102530914:102531022:102542007:102542241102530914:102531022ENSG00000185480.7ENST00000327680.2
exon_skip_8631712102517765:102517819:102542007:102542241:102547646:102547754102542007:102542241ENSG00000185480.7ENST00000378128.3,ENST00000358383.5,ENST00000541668.1,ENST00000417507.2,ENST00000412715.2
exon_skip_8632012102517765:102517819:102542012:102542241:102547646:102547754102542012:102542241ENSG00000185480.7ENST00000392911.2
exon_skip_8632812102517765:102517819:102547646:102547767:102559506:102559661102547646:102547767ENSG00000185480.7ENST00000457614.2
exon_skip_8632912102517765:102517819:102558215:102558386:102559506:102559661102558215:102558386ENSG00000185480.7ENST00000543784.1
exon_skip_8633412102542012:102542241:102544041:102544149:102545347:102545578102544041:102544149ENSG00000185480.7ENST00000392909.3
exon_skip_8633712102542012:102542241:102545347:102545578:102547646:102547754102545347:102545578ENSG00000185480.7ENST00000541394.1
exon_skip_8633912102542012:102542241:102547646:102547754:102558215:102558386102547646:102547754ENSG00000185480.7ENST00000378128.3,ENST00000327680.2,ENST00000358383.5,ENST00000392911.2,ENST00000417507.2,ENST00000412715.2
exon_skip_8634612102547646:102547754:102558215:102558386:102559506:102559661102558215:102558386ENSG00000185480.7ENST00000378128.3,ENST00000327680.2,ENST00000541394.1,ENST00000358383.5,ENST00000392911.2,ENST00000417507.2,ENST00000412715.2
exon_skip_8635212102559506:102559661:102569260:102569444:102572369:102572548102569260:102569444ENSG00000185480.7ENST00000327680.2,ENST00000541394.1,ENST00000358383.5,ENST00000392911.2,ENST00000457614.2
exon_skip_8636112102559506:102559661:102576326:102576405:102589728:102589865102576326:102576405ENSG00000185480.7ENST00000417507.2
exon_skip_8636412102569260:102569444:102572369:102572548:102576326:102576405102572369:102572548ENSG00000185480.7ENST00000327680.2,ENST00000541394.1,ENST00000358383.5,ENST00000392911.2,ENST00000457614.2
exon_skip_8637012102572369:102572548:102576326:102576405:102589089:102589225102576326:102576405ENSG00000185480.7ENST00000327680.2,ENST00000541394.1,ENST00000358383.5,ENST00000392911.2,ENST00000457614.2
exon_skip_8637312102576326:102576405:102589089:102589225:102589728:102589865102589089:102589225ENSG00000185480.7ENST00000327680.2,ENST00000541394.1,ENST00000358383.5,ENST00000392911.2,ENST00000457614.2

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 PARPBP

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
ENST000003276801025309141025310225UTR-5UTR
ENST00000327680102569260102569444Frame-shift
ENST00000327680102572369102572548Frame-shift
ENST00000327680102576326102576405Frame-shift
ENST00000327680102589089102589225Frame-shift
ENST00000327680102547646102547754In-frame
ENST00000327680102558215102558386In-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
ENST000003276801025309141025310225UTR-5UTR
ENST00000327680102569260102569444Frame-shift
ENST00000327680102572369102572548Frame-shift
ENST00000327680102576326102576405Frame-shift
ENST00000327680102589089102589225Frame-shift
ENST00000327680102547646102547754In-frame
ENST00000327680102558215102558386In-frame

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

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
ENST0000032768032065791025476461025477546087154884
ENST00000327680320657910255821510255838671688684141

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
ENST0000032768032065791025476461025477546087154884
ENST00000327680320657910255821510255838671688684141

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 PARPBP

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.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
UCECTCGA-BG-A0LX-01exon_skip_86339
102547647102547754102547674102547674Frame_Shift_DelA-p.K216fs
UCECTCGA-BG-A0LX-01exon_skip_86339
102547647102547754102547674102547674Frame_Shift_DelA-p.K58fs
UCECTCGA-BG-A0LX-01exon_skip_86328
102547647102547767102547674102547674Frame_Shift_DelA-p.K216fs
UCECTCGA-BG-A0LX-01exon_skip_86328
102547647102547767102547674102547674Frame_Shift_DelA-p.K58fs
LIHCTCGA-DD-A3A0-01exon_skip_86364
102572370102572548102572523102572523Frame_Shift_DelG-p.G306fs
COADTCGA-A6-6142-01exon_skip_86370
exon_skip_86361
102576327102576405102576394102576394Frame_Shift_DelA-p.E417fs
LIHCTCGA-DD-A39Y-01exon_skip_86370
exon_skip_86361
102576327102576405102576394102576394Frame_Shift_DelA-p.K338fs
LIHCTCGA-G3-A3CJ-01exon_skip_86370
exon_skip_86361
102576327102576405102576394102576394Frame_Shift_DelA-p.K338fs
CESCTCGA-IR-A3LH-01exon_skip_86346
exon_skip_86329
102558216102558386102558365102558366Frame_Shift_Ins-Ap.Q216fs
ESCATCGA-LN-A49L-01exon_skip_86346
exon_skip_86329
102558216102558386102558360102558360Nonsense_MutationCTp.R133*
ESCATCGA-LN-A49L-01exon_skip_86346
exon_skip_86329
102558216102558386102558360102558360Nonsense_MutationCTp.R214*
ESCATCGA-LN-A49L-01exon_skip_86346
exon_skip_86329
102558216102558386102558360102558360Nonsense_MutationCTp.R214X
THYMTCGA-XU-A92W-01exon_skip_86339
102547647102547754102547755102547755Splice_SiteGT.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
NCIH1793_LUNG102569261102569444102569329102569330Frame_Shift_Ins-Tp.PF297fs
SNU1040_LARGE_INTESTINE102576327102576405102576393102576394Frame_Shift_Ins-Ap.K418fs
HT115_LARGE_INTESTINE102517664102517819102517716102517716Missense_MutationGAp.R17Q
JHUEM7_ENDOMETRIUM102517664102517819102517716102517716Missense_MutationGAp.R17Q
NCIH441_LUNG102542008102542241102542133102542133Missense_MutationGTp.K93N
NCIH441_LUNG102542013102542241102542133102542133Missense_MutationGTp.K93N
MYM12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE102542008102542241102542194102542194Missense_MutationTCp.C114R
MYM12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE102542013102542241102542194102542194Missense_MutationTCp.C114R
PC9_LUNG102547647102547754102547650102547650Missense_MutationCAp.Q131K
PC9_LUNG102547647102547767102547650102547650Missense_MutationCAp.Q131K
2313287_STOMACH102547647102547754102547730102547730Missense_MutationTAp.S157R
2313287_STOMACH102547647102547767102547730102547730Missense_MutationTAp.S157R
JHUEM7_ENDOMETRIUM102558216102558386102558235102558235Missense_MutationACp.K172T
SKMES1_LUNG102558216102558386102558324102558324Missense_MutationGAp.G202R
RKN_SOFT_TISSUE102569261102569444102569271102569271Missense_MutationGTp.G278C
HEC108_ENDOMETRIUM102569261102569444102569302102569302Missense_MutationTCp.L288P
SNU1040_LARGE_INTESTINE102572370102572548102572434102572434Missense_MutationTCp.L357S
HCC2998_LARGE_INTESTINE102572370102572548102572448102572448Missense_MutationGAp.E362K
PEDS005TPFAD_KIDNEY102576327102576405102576350102576350Missense_MutationCTp.S403L
CJM_SKIN102576327102576405102576350102576350Missense_MutationCGp.S403W
RH1_SOFT_TISSUE102589090102589225102589152102589152Missense_MutationCAp.S442R
DJM1_SKIN102589090102589225102589215102589215Missense_MutationTGp.N463K
OVTOKO_OVARY102517664102517819102517682102517682Nonsense_MutationCTp.Q6*
KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE102572370102572548102572491102572491Nonsense_MutationTGp.L376*
HEPG2_LIVER102569261102569444102569443102569443Splice_SiteGAp.R335Q
C3A_LIVER102569261102569444102569443102569443Splice_SiteGAp.R335Q

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

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_8631012102514024:102514064:102517663:102517819:102542007:102542241102517663:102517819ENST00000392909.3,ENST00000358383.5,ENST00000537257.1,ENST00000541394.1BLCArs2036772chr12:102517753T/C5.25e-04
exon_skip_8631012102514024:102514064:102517663:102517819:102542007:102542241102517663:102517819ENST00000392909.3,ENST00000358383.5,ENST00000537257.1,ENST00000541394.1BLCArs2036772chr12:102517753T/C9.55e-04
exon_skip_8631012102514024:102514064:102517663:102517819:102542007:102542241102517663:102517819ENST00000392909.3,ENST00000358383.5,ENST00000537257.1,ENST00000541394.1HNSCrs2036771chr12:102517804A/G2.12e-03
exon_skip_8631012102514024:102514064:102517663:102517819:102542007:102542241102517663:102517819ENST00000392909.3,ENST00000358383.5,ENST00000537257.1,ENST00000541394.1HNSCrs2036771chr12:102517804A/G2.32e-03
exon_skip_8631012102514024:102514064:102517663:102517819:102542007:102542241102517663:102517819ENST00000392909.3,ENST00000358383.5,ENST00000537257.1,ENST00000541394.1HNSCrs2036772chr12:102517753T/C2.96e-03
exon_skip_8631012102514024:102514064:102517663:102517819:102542007:102542241102517663:102517819ENST00000392909.3,ENST00000358383.5,ENST00000537257.1,ENST00000541394.1BRCArs2036772chr12:102517753T/C1.58e-06
exon_skip_8631012102514024:102514064:102517663:102517819:102542007:102542241102517663:102517819ENST00000392909.3,ENST00000358383.5,ENST00000537257.1,ENST00000541394.1BRCArs2036772chr12:102517753T/C3.83e-04
exon_skip_8631012102514024:102514064:102517663:102517819:102542007:102542241102517663:102517819ENST00000392909.3,ENST00000358383.5,ENST00000537257.1,ENST00000541394.1LGGrs2036771chr12:102517804A/G6.70e-05
exon_skip_8631012102514024:102514064:102517663:102517819:102542007:102542241102517663:102517819ENST00000392909.3,ENST00000358383.5,ENST00000537257.1,ENST00000541394.1LGGrs2036772chr12:102517753T/C1.39e-03
exon_skip_8631012102514024:102514064:102517663:102517819:102542007:102542241102517663:102517819ENST00000392909.3,ENST00000358383.5,ENST00000537257.1,ENST00000541394.1LGGrs2036771chr12:102517804A/G1.62e-03
exon_skip_8631012102514024:102514064:102517663:102517819:102542007:102542241102517663:102517819ENST00000392909.3,ENST00000358383.5,ENST00000537257.1,ENST00000541394.1LGGrs2036772chr12:102517753T/C2.74e-03
exon_skip_8631012102514024:102514064:102517663:102517819:102542007:102542241102517663:102517819ENST00000392909.3,ENST00000358383.5,ENST00000537257.1,ENST00000541394.1KIRCrs2036772chr12:102517753T/C2.35e-03
exon_skip_8631012102514024:102514064:102517663:102517819:102542007:102542241102517663:102517819ENST00000392909.3,ENST00000358383.5,ENST00000537257.1,ENST00000541394.1STADrs2036772chr12:102517753T/C1.59e-06
exon_skip_8631012102514024:102514064:102517663:102517819:102542007:102542241102517663:102517819ENST00000392909.3,ENST00000358383.5,ENST00000537257.1,ENST00000541394.1STADrs2036772chr12:102517753T/C8.55e-06
exon_skip_8631112102514024:102514064:102517663:102517819:102542012:102542241102517663:102517819ENST00000392911.2BLCArs2036772chr12:102517753T/C5.25e-04
exon_skip_8631112102514024:102514064:102517663:102517819:102542012:102542241102517663:102517819ENST00000392911.2BLCArs2036772chr12:102517753T/C9.55e-04
exon_skip_8631112102514024:102514064:102517663:102517819:102542012:102542241102517663:102517819ENST00000392911.2HNSCrs2036771chr12:102517804A/G2.12e-03
exon_skip_8631112102514024:102514064:102517663:102517819:102542012:102542241102517663:102517819ENST00000392911.2HNSCrs2036771chr12:102517804A/G2.32e-03
exon_skip_8631112102514024:102514064:102517663:102517819:102542012:102542241102517663:102517819ENST00000392911.2HNSCrs2036772chr12:102517753T/C2.96e-03
exon_skip_8631112102514024:102514064:102517663:102517819:102542012:102542241102517663:102517819ENST00000392911.2BRCArs2036772chr12:102517753T/C1.58e-06
exon_skip_8631112102514024:102514064:102517663:102517819:102542012:102542241102517663:102517819ENST00000392911.2BRCArs2036772chr12:102517753T/C3.83e-04
exon_skip_8631112102514024:102514064:102517663:102517819:102542012:102542241102517663:102517819ENST00000392911.2LGGrs2036771chr12:102517804A/G6.70e-05
exon_skip_8631112102514024:102514064:102517663:102517819:102542012:102542241102517663:102517819ENST00000392911.2LGGrs2036772chr12:102517753T/C1.39e-03
exon_skip_8631112102514024:102514064:102517663:102517819:102542012:102542241102517663:102517819ENST00000392911.2LGGrs2036771chr12:102517804A/G1.62e-03
exon_skip_8631112102514024:102514064:102517663:102517819:102542012:102542241102517663:102517819ENST00000392911.2LGGrs2036772chr12:102517753T/C2.74e-03
exon_skip_8631112102514024:102514064:102517663:102517819:102542012:102542241102517663:102517819ENST00000392911.2KIRCrs2036772chr12:102517753T/C2.35e-03
exon_skip_8631112102514024:102514064:102517663:102517819:102542012:102542241102517663:102517819ENST00000392911.2STADrs2036772chr12:102517753T/C1.59e-06
exon_skip_8631112102514024:102514064:102517663:102517819:102542012:102542241102517663:102517819ENST00000392911.2STADrs2036772chr12:102517753T/C8.55e-06
exon_skip_8633712102542012:102542241:102545347:102545578:102547646:102547754102545347:102545578ENST00000541394.1HNSCrs55772007chr12:102545563A/G2.30e-03
exon_skip_8633712102542012:102542241:102545347:102545578:102547646:102547754102545347:102545578ENST00000541394.1HNSCrs55772007chr12:102545563A/G2.51e-03
exon_skip_8633712102542012:102542241:102545347:102545578:102547646:102547754102545347:102545578ENST00000541394.1LGGrs55772007chr12:102545563A/G1.70e-04
exon_skip_8633712102542012:102542241:102545347:102545578:102547646:102547754102545347:102545578ENST00000541394.1LGGrs55772007chr12:102545563A/G3.23e-03

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


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


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RelatedDrugs for PARPBP

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 PARPBP

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