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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 SHKBP1

check button Gene summary
Gene informationGene symbol

SHKBP1

Gene ID

92799

Gene nameSH3KBP1 binding protein 1
SynonymsPP203|Sb1
Cytomap

19q13.2

Type of geneprotein-coding
DescriptionSH3KBP1-binding protein 1SETA-binding protein 1
Modification date20180523
UniProtAcc

Q8TBC3

ContextPubMed: SHKBP1 [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 SHKBP1 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 SHKBP1

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 SHKBP1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3072021941082821:41082891:41083136:41083190:41083301:4108334741083136:41083190ENSG00000160410.10ENST00000595803.1,ENST00000599575.1,ENST00000595945.1,ENST00000600718.1,ENST00000599716.1,ENST00000600733.1
exon_skip_3072041941083462:41083536:41084002:41084118:41084367:4108444841084002:41084118ENSG00000160410.10ENST00000595523.1
exon_skip_3072071941083462:41083536:41084028:41084118:41084367:4108444841084028:41084118ENSG00000160410.10ENST00000599575.1,ENST00000600552.1
exon_skip_3072091941083462:41083536:41084059:41084118:41084353:4108444841084059:41084118ENSG00000160410.10ENST00000595945.1
exon_skip_3072101941083462:41083536:41084059:41084118:41084367:4108444841084059:41084118ENSG00000160410.10ENST00000291842.5,ENST00000594973.1,ENST00000600718.1,ENST00000600733.1
exon_skip_3072121941083462:41083615:41084059:41084118:41084367:4108444841084059:41084118ENSG00000160410.10ENST00000595803.1
exon_skip_3072131941086229:41086391:41086471:41086562:41086651:4108674441086471:41086562ENSG00000160410.10ENST00000291842.5,ENST00000599575.1,ENST00000595945.1,ENST00000594973.1,ENST00000600718.1,ENST00000600733.1,ENST00000598907.1,ENST00000598201.1
exon_skip_3072201941088331:41088372:41089303:41089391:41089506:4108962341089303:41089391ENSG00000160410.10ENST00000291842.5,ENST00000594973.1,ENST00000600718.1,ENST00000600733.1,ENST00000598201.1
exon_skip_3072281941089554:41089623:41092679:41092850:41094529:4109456041092679:41092850ENSG00000160410.10ENST00000291842.5,ENST00000594973.1,ENST00000600718.1,ENST00000600320.1,ENST00000600733.1,ENST00000598201.1,ENST00000600791.1,ENST00000593764.1
exon_skip_3072361941092801:41092850:41094529:41094685:41094987:4109508441094529:41094685ENSG00000160410.10ENST00000291842.5,ENST00000594973.1,ENST00000599833.1,ENST00000596163.1,ENST00000600733.1,ENST00000598201.1,ENST00000597396.1,ENST00000597649.1
exon_skip_3072371941092801:41092850:41094529:41094685:41096635:4109671241094529:41094685ENSG00000160410.10ENST00000600718.1,ENST00000600320.1
exon_skip_3072381941092801:41092850:41094529:41094685:41096638:4109675941094529:41094685ENSG00000160410.10ENST00000593764.1
exon_skip_3072421941092801:41092850:41096635:41096759:41096881:4109699341096635:41096759ENSG00000160410.10ENST00000594298.1
exon_skip_3072481941094644:41094685:41094987:41095084:41096635:4109671241094987:41095084ENSG00000160410.10ENST00000595726.1
exon_skip_3072491941094644:41094685:41094987:41095084:41096638:4109675941094987:41095084ENSG00000160410.10ENST00000596163.1
exon_skip_3072531941095006:41095084:41096149:41096328:41096635:4109671241096149:41096328ENSG00000160410.10ENST00000291842.5,ENST00000594973.1,ENST00000599833.1,ENST00000600733.1,ENST00000598201.1,ENST00000602011.1
exon_skip_3072541941095006:41095084:41096149:41096328:41096638:4109675941096149:41096328ENSG00000160410.10ENST00000597396.1
exon_skip_3072561941095006:41095084:41096635:41096759:41096881:4109699341096635:41096759ENSG00000160410.10ENST00000595726.1
exon_skip_3072571941095006:41095084:41096638:41096759:41096881:4109699341096638:41096759ENSG00000160410.10ENST00000596163.1,ENST00000594862.1

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

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Exon skipping events with PSIs in GTEx for SHKBP1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3072021941082821:41082891:41083136:41083190:41083301:4108334741083136:41083190ENSG00000160410.10ENST00000595803.1,ENST00000600733.1,ENST00000595945.1,ENST00000599575.1,ENST00000599716.1,ENST00000600718.1
exon_skip_3072041941083462:41083536:41084002:41084118:41084367:4108444841084002:41084118ENSG00000160410.10ENST00000595523.1
exon_skip_3072071941083462:41083536:41084028:41084118:41084367:4108444841084028:41084118ENSG00000160410.10ENST00000599575.1,ENST00000600552.1
exon_skip_3072091941083462:41083536:41084059:41084118:41084353:4108444841084059:41084118ENSG00000160410.10ENST00000595945.1
exon_skip_3072101941083462:41083536:41084059:41084118:41084367:4108444841084059:41084118ENSG00000160410.10ENST00000291842.5,ENST00000600733.1,ENST00000600718.1,ENST00000594973.1
exon_skip_3072121941083462:41083615:41084059:41084118:41084367:4108444841084059:41084118ENSG00000160410.10ENST00000595803.1
exon_skip_3072131941086229:41086391:41086471:41086562:41086651:4108674441086471:41086562ENSG00000160410.10ENST00000291842.5,ENST00000600733.1,ENST00000595945.1,ENST00000599575.1,ENST00000600718.1,ENST00000594973.1,ENST00000598907.1,ENST00000598201.1
exon_skip_3072201941088331:41088372:41089303:41089391:41089506:4108962341089303:41089391ENSG00000160410.10ENST00000291842.5,ENST00000600733.1,ENST00000600718.1,ENST00000594973.1,ENST00000598201.1
exon_skip_3072281941089554:41089623:41092679:41092850:41094529:4109456041092679:41092850ENSG00000160410.10ENST00000291842.5,ENST00000600733.1,ENST00000600718.1,ENST00000594973.1,ENST00000598201.1,ENST00000600791.1,ENST00000593764.1,ENST00000600320.1
exon_skip_3072361941092801:41092850:41094529:41094685:41094987:4109508441094529:41094685ENSG00000160410.10ENST00000291842.5,ENST00000600733.1,ENST00000594973.1,ENST00000598201.1,ENST00000597649.1,ENST00000599833.1,ENST00000596163.1,ENST00000597396.1
exon_skip_3072371941092801:41092850:41094529:41094685:41096635:4109671241094529:41094685ENSG00000160410.10ENST00000600718.1,ENST00000600320.1
exon_skip_3072381941092801:41092850:41094529:41094685:41096638:4109675941094529:41094685ENSG00000160410.10ENST00000593764.1
exon_skip_3072421941092801:41092850:41096635:41096759:41096881:4109699341096635:41096759ENSG00000160410.10ENST00000594298.1
exon_skip_3072481941094644:41094685:41094987:41095084:41096635:4109671241094987:41095084ENSG00000160410.10ENST00000595726.1
exon_skip_3072491941094644:41094685:41094987:41095084:41096638:4109675941094987:41095084ENSG00000160410.10ENST00000596163.1
exon_skip_3072531941095006:41095084:41096149:41096328:41096635:4109671241096149:41096328ENSG00000160410.10ENST00000291842.5,ENST00000600733.1,ENST00000594973.1,ENST00000598201.1,ENST00000602011.1,ENST00000599833.1
exon_skip_3072541941095006:41095084:41096149:41096328:41096638:4109675941096149:41096328ENSG00000160410.10ENST00000597396.1
exon_skip_3072561941095006:41095084:41096635:41096759:41096881:4109699341096635:41096759ENSG00000160410.10ENST00000595726.1
exon_skip_3072571941095006:41095084:41096638:41096759:41096881:4109699341096638:41096759ENSG00000160410.10ENST00000596163.1,ENST00000594862.1

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 SHKBP1

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
ENST000002918424108405941084118Frame-shift
ENST000002918424108647141086562Frame-shift
ENST000002918424108930341089391Frame-shift
ENST000002918424109614941096328Frame-shift
ENST000002918424109267941092850In-frame
ENST000002918424109452941094685In-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
ENST000002918424108405941084118Frame-shift
ENST000002918424108647141086562Frame-shift
ENST000002918424108930341089391Frame-shift
ENST000002918424109614941096328Frame-shift
ENST000002918424109267941092850In-frame
ENST000002918424109452941094685In-frame

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Infer the effects of exon skipping event on protein functional features for SHKBP1

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
ENST000002918422380707410926794109285012151385388445
ENST000002918422380707410945294109468513861541445497

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
ENST000002918422380707410926794109285012151385388445
ENST000002918422380707410945294109468513861541445497

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
Q8TBC3388445306707Alternative sequenceID=VSP_028874;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8TBC33884452707ChainID=PRO_0000307932;Note=SH3KBP1-binding protein 1
Q8TBC3388445363420RepeatNote=WD 5
Q8TBC3388445421466RepeatNote=WD 6
Q8TBC3445497306707Alternative sequenceID=VSP_028874;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8TBC34454972707ChainID=PRO_0000307932;Note=SH3KBP1-binding protein 1
Q8TBC3445497421466RepeatNote=WD 6
Q8TBC3445497467518RepeatNote=WD 7


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
Q8TBC3388445306707Alternative sequenceID=VSP_028874;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8TBC33884452707ChainID=PRO_0000307932;Note=SH3KBP1-binding protein 1
Q8TBC3388445363420RepeatNote=WD 5
Q8TBC3388445421466RepeatNote=WD 6
Q8TBC3445497306707Alternative sequenceID=VSP_028874;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8TBC34454972707ChainID=PRO_0000307932;Note=SH3KBP1-binding protein 1
Q8TBC3445497421466RepeatNote=WD 6
Q8TBC3445497467518RepeatNote=WD 7


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SNVs in the skipped exons for SHKBP1

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
HNSCTCGA-CV-7416-01exon_skip_307213
41086472410865624108652341086527Frame_Shift_DelGGATC-p.W205fs
HNSCTCGA-CV-7416-01exon_skip_307213
41086472410865624108652341086527Frame_Shift_DelGGATC-p.WI205fs
LIHCTCGA-DD-A3A0-01exon_skip_307238
exon_skip_307236
exon_skip_307237
41094530410946854109463041094630Frame_Shift_DelC-p.I479fs
HNSCTCGA-CV-A6JM-01exon_skip_307242
exon_skip_307256
exon_skip_307257
41096636410967594109668041096681Frame_Shift_DelTG-p.C605fs
HNSCTCGA-CV-A6JM-01exon_skip_307242
exon_skip_307256
exon_skip_307257
41096639410967594109668041096681Frame_Shift_DelTG-p.C605fs
LIHCTCGA-DD-A39Y-01exon_skip_307242
exon_skip_307256
exon_skip_307257
41096636410967594109672741096727Frame_Shift_DelC-p.L620fs
LIHCTCGA-DD-A39Y-01exon_skip_307242
exon_skip_307256
exon_skip_307257
41096639410967594109672741096727Frame_Shift_DelC-p.L620fs
COADTCGA-A6-6781-01exon_skip_307242
exon_skip_307256
exon_skip_307257
41096636410967594109673641096737Frame_Shift_Ins-Ap.P623fs
COADTCGA-A6-6781-01exon_skip_307242
exon_skip_307256
exon_skip_307257
41096639410967594109673641096737Frame_Shift_Ins-Ap.P623fs
BLCATCGA-ZF-AA4W-01exon_skip_307202
41083137410831904108316741083167Nonsense_MutationGAp.W39*

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
GP2D_LARGE_INTESTINE41084060410841184108410241084103Frame_Shift_Ins-Gp.G102fs
GP2D_LARGE_INTESTINE41084029410841184108410241084103Frame_Shift_Ins-Gp.G102fs
GP2D_LARGE_INTESTINE41084003410841184108410241084103Frame_Shift_Ins-Gp.G102fs
GP5D_LARGE_INTESTINE41084060410841184108410241084103Frame_Shift_Ins-Gp.G102fs
GP5D_LARGE_INTESTINE41084029410841184108410241084103Frame_Shift_Ins-Gp.G102fs
GP5D_LARGE_INTESTINE41084003410841184108410241084103Frame_Shift_Ins-Gp.G102fs
NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE41083137410831904108317441083174Missense_MutationGAp.D42N
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM41086472410865624108649541086495Missense_MutationGTp.V196L
DMS53_LUNG41086472410865624108649841086498Missense_MutationCTp.R197C
NCIH1048_LUNG41086472410865624108655641086556Missense_MutationGTp.C216F
SNU1040_LARGE_INTESTINE41092680410928504109270641092706Missense_MutationGAp.A398T
KM12_LARGE_INTESTINE41092680410928504109273341092733Missense_MutationCTp.R407W
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE41092680410928504109274241092742Missense_MutationGAp.V410M
RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE41092680410928504109278741092787Missense_MutationAGp.T425A
SNU1_STOMACH41092680410928504109280341092803Missense_MutationGAp.R430H
SKGT2_STOMACH41092680410928504109282241092822Missense_MutationCGp.I436M
MFE319_ENDOMETRIUM41092680410928504109283941092839Missense_MutationAGp.H442R
SNU81_LARGE_INTESTINE41094530410946854109455441094554Missense_MutationGAp.R454Q
LN18_CENTRAL_NERVOUS_SYSTEM41094530410946854109457241094572Missense_MutationGTp.R460L
SNU1040_LARGE_INTESTINE41094530410946854109458041094580Missense_MutationGAp.G463S
T47D_BREAST41094530410946854109460241094602Missense_MutationGCp.G470A
DBTRG05MG_CENTRAL_NERVOUS_SYSTEM41094530410946854109460541094605Missense_MutationCTp.S471F
HEC6_ENDOMETRIUM41094530410946854109461641094616Missense_MutationGAp.A475T
MKN45_STOMACH41094530410946854109466841094668Missense_MutationGAp.S492N
639V_URINARY_TRACT41094988410950844109505941095059Missense_MutationGAp.V522M
SNU175_LARGE_INTESTINE41094988410950844109506241095062Missense_MutationCTp.R523C
HCT116_LARGE_INTESTINE41096150410963284109615441096154Missense_MutationTCp.C532R
LN340_CENTRAL_NERVOUS_SYSTEM41096150410963284109616041096160Missense_MutationGAp.V534M
MDAMB361_BREAST41096150410963284109620541096205Missense_MutationGCp.E549Q
DOV13_OVARY41096150410963284109620941096209Missense_MutationGAp.C550Y
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE41096150410963284109622041096220Missense_MutationCTp.R554W
SNU1040_LARGE_INTESTINE41096150410963284109624541096245Missense_MutationGAp.R562H
SNU520_STOMACH41096150410963284109627141096271Missense_MutationGAp.G571S
HEC59_ENDOMETRIUM41096150410963284109628541096285Missense_MutationGAp.M575I
DOV13_OVARY41096150410963284109631641096316Missense_MutationGAp.G586S
HS294T_SKIN41096150410963284109631641096316Missense_MutationGAp.G586S
NCIH128_LUNG41096150410963284109631941096319Missense_MutationCAp.Q587K
IGR1_SKIN41096636410967594109669041096690Missense_MutationCTp.A608V
IGR1_SKIN41096639410967594109669041096690Missense_MutationCTp.A608V
IGR1_SKIN41096636410967594109669041096691Missense_MutationCCTTp.A608V
IGR1_SKIN41096639410967594109669041096691Missense_MutationCCTTp.A608V
MEWO_SKIN41096636410967594109670141096701Missense_MutationCTp.P612S
MEWO_SKIN41096639410967594109670141096701Missense_MutationCTp.P612S
FEPD_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE41096636410967594109670241096702Missense_MutationCTp.P612L
FEPD_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE41096639410967594109670241096702Missense_MutationCTp.P612L
A431_SKIN41096636410967594109672541096725Missense_MutationCGp.L620V
A431_SKIN41096639410967594109672541096725Missense_MutationCGp.L620V
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE41083137410831904108316641083166Nonsense_MutationGAp.W39*
JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE41089304410893914108931041089310Nonsense_MutationGTp.E323*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SHKBP1

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 SHKBP1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SHKBP1


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RelatedDrugs for SHKBP1

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 SHKBP1

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