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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 IBTK

check button Gene summary
Gene informationGene symbol

IBTK

Gene ID

25998

Gene nameinhibitor of Bruton tyrosine kinase
SynonymsBTBD26|BTKI
Cytomap

6q14.1

Type of geneprotein-coding
Descriptioninhibitor of Bruton tyrosine kinaseBTK-binding proteinBruton agammaglobulinemia tyrosine kinase inhibitorinhibitor of Bruton's tyrosine kinase-alphainhibitor of Bruton's tyrosine kinase-betainhibitor of Bruton's tyrosine kinase-gamma
Modification date20180519
UniProtAcc

Q9P2D0

ContextPubMed: IBTK [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
IBTK

GO:0001933

negative regulation of protein phosphorylation

11577348

IBTK

GO:0051209

release of sequestered calcium ion into cytosol

11577348


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Exon skipping events across known transcript of Ensembl for IBTK 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 IBTK

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 IBTK

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_460687682882096:82882229:82883083:82883155:82891595:8289174582883083:82883155ENSG00000005700.10ENST00000306270.7,ENST00000503400.1,ENST00000510291.1,ENST00000445419.2,ENST00000505222.1,ENST00000503631.1
exon_skip_460688682883083:82883155:82884614:82884719:82891595:8289174582884614:82884719ENSG00000005700.10ENST00000471036.1
exon_skip_460693682883083:82883155:82891595:82891745:82900789:8290093382891595:82891745ENSG00000005700.10ENST00000306270.7,ENST00000503400.1,ENST00000510291.1,ENST00000445419.2,ENST00000505222.1,ENST00000503631.1
exon_skip_460698682891595:82891745:82900789:82900933:82901503:8290157182900789:82900933ENSG00000005700.10ENST00000306270.7,ENST00000503400.1,ENST00000471036.1,ENST00000510291.1,ENST00000445419.2,ENST00000503631.1
exon_skip_460702682904195:82904359:82906014:82906118:82909857:8290997082906014:82906118ENSG00000005700.10ENST00000510291.1
exon_skip_460704682904195:82904359:82906014:82906163:82909857:8290997082906014:82906163ENSG00000005700.10ENST00000306270.7,ENST00000503400.1,ENST00000369751.2,ENST00000505222.1,ENST00000503631.1
exon_skip_460706682906014:82906163:82909857:82909970:82910303:8291042582909857:82909970ENSG00000005700.10ENST00000306270.7,ENST00000503400.1,ENST00000445419.2,ENST00000369751.2,ENST00000505222.1,ENST00000503631.1
exon_skip_460709682921083:82921121:82921206:82921289:82922423:8292250582921206:82921289ENSG00000005700.10ENST00000306270.7,ENST00000503400.1,ENST00000510291.1,ENST00000369751.2,ENST00000505222.1,ENST00000503631.1
exon_skip_460711682922423:82922510:82923943:82924546:82925792:8292590682923943:82924546ENSG00000005700.10ENST00000306270.7,ENST00000503400.1,ENST00000510291.1,ENST00000369751.2
exon_skip_460714682923943:82924546:82925792:82925967:82927676:8292785482925792:82925967ENSG00000005700.10ENST00000306270.7,ENST00000503400.1,ENST00000510291.1,ENST00000369751.2
exon_skip_460716682941434:82941559:82943875:82943972:82949882:8295028282943875:82943972ENSG00000005700.10ENST00000306270.7,ENST00000503400.1,ENST00000510291.1,ENST00000369751.2,ENST00000505222.1,ENST00000503631.1
exon_skip_460720682943875:82943972:82949882:82950560:82957278:8295738882949882:82950560ENSG00000005700.10ENST00000503400.1,ENST00000369751.2

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

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Exon skipping events with PSIs in GTEx for IBTK

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_460687682882096:82882229:82883083:82883155:82891595:8289174582883083:82883155ENSG00000005700.10ENST00000306270.7,ENST00000505222.1,ENST00000445419.2,ENST00000503400.1,ENST00000503631.1,ENST00000510291.1
exon_skip_460688682883083:82883155:82884614:82884719:82891595:8289174582884614:82884719ENSG00000005700.10ENST00000471036.1
exon_skip_460693682883083:82883155:82891595:82891745:82900789:8290093382891595:82891745ENSG00000005700.10ENST00000306270.7,ENST00000505222.1,ENST00000445419.2,ENST00000503400.1,ENST00000503631.1,ENST00000510291.1
exon_skip_460698682891595:82891745:82900789:82900933:82901503:8290157182900789:82900933ENSG00000005700.10ENST00000306270.7,ENST00000445419.2,ENST00000503400.1,ENST00000503631.1,ENST00000510291.1,ENST00000471036.1
exon_skip_460702682904195:82904359:82906014:82906118:82909857:8290997082906014:82906118ENSG00000005700.10ENST00000510291.1
exon_skip_460704682904195:82904359:82906014:82906163:82909857:8290997082906014:82906163ENSG00000005700.10ENST00000306270.7,ENST00000505222.1,ENST00000503400.1,ENST00000503631.1,ENST00000369751.2
exon_skip_460706682906014:82906163:82909857:82909970:82910303:8291042582909857:82909970ENSG00000005700.10ENST00000306270.7,ENST00000505222.1,ENST00000445419.2,ENST00000503400.1,ENST00000503631.1,ENST00000369751.2
exon_skip_460709682921083:82921121:82921206:82921289:82922423:8292250582921206:82921289ENSG00000005700.10ENST00000306270.7,ENST00000505222.1,ENST00000503400.1,ENST00000503631.1,ENST00000510291.1,ENST00000369751.2
exon_skip_460711682922423:82922510:82923943:82924546:82925792:8292590682923943:82924546ENSG00000005700.10ENST00000306270.7,ENST00000503400.1,ENST00000510291.1,ENST00000369751.2
exon_skip_460714682923943:82924546:82925792:82925967:82927676:8292785482925792:82925967ENSG00000005700.10ENST00000306270.7,ENST00000503400.1,ENST00000510291.1,ENST00000369751.2
exon_skip_460716682941434:82941559:82943875:82943972:82949882:8295028282943875:82943972ENSG00000005700.10ENST00000306270.7,ENST00000505222.1,ENST00000503400.1,ENST00000503631.1,ENST00000510291.1,ENST00000369751.2
exon_skip_460720682943875:82943972:82949882:82950560:82957278:8295738882949882:82950560ENSG00000005700.10ENST00000503400.1,ENST00000369751.2

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 IBTK

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

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

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

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

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

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 IBTK

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.
IBTK_COAD_exon_skip_460711_psi_boxplot.png
boxplot
IBTK_GBM_exon_skip_460711_psi_boxplot.png
boxplot
IBTK_LIHC_exon_skip_460711_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-4R-AA8I-01exon_skip_460693
82891596828917458289168382891683Frame_Shift_DelT-p.K1213fs
STADTCGA-BR-4370-01exon_skip_460693
82891596828917458289168382891683Frame_Shift_DelT-p.K1213fs
STADTCGA-CG-4442-01exon_skip_460693
82891596828917458289168382891683Frame_Shift_DelT-p.K1213fs
STADTCGA-HU-8602-01exon_skip_460693
82891596828917458289168382891683Frame_Shift_DelT-p.K1213fs
UCECTCGA-AP-A0LG-01exon_skip_460693
82891596828917458289168382891683Frame_Shift_DelT-p.K1213fs
LIHCTCGA-DD-A39Y-01exon_skip_460698
82900790829009338290082982900829Frame_Shift_DelA-p.L1179fs
LIHCTCGA-DD-A39Y-01exon_skip_460698
82900790829009338290088782900887Frame_Shift_DelT-p.M1160fs
LIHCTCGA-G3-A3CJ-01exon_skip_460706
82909858829099708290994582909945Frame_Shift_DelT-p.T980fs
LIHCTCGA-DD-A3A0-01exon_skip_460711
82923944829245468292401982924019Frame_Shift_DelT-p.N710fs
LIHCTCGA-G3-A3CJ-01exon_skip_460711
82923944829245468292401982924019Frame_Shift_DelT-p.N710fs
LIHCTCGA-DD-A39Y-01exon_skip_460711
82923944829245468292402782924027Frame_Shift_DelT-p.K707fs
LIHCTCGA-DD-A3A0-01exon_skip_460711
82923944829245468292402782924027Frame_Shift_DelT-p.K707fs
GBMTCGA-76-4926-01exon_skip_460711
82923944829245468292406382924066Frame_Shift_DelACTA-p.V694fs
LIHCTCGA-DD-A3A0-01exon_skip_460711
82923944829245468292408682924086Frame_Shift_DelT-p.S688fs
LIHCTCGA-DD-A1EG-01exon_skip_460711
82923944829245468292438182924381Frame_Shift_DelA-p.F589fs
LIHCTCGA-DD-A3A0-01exon_skip_460711
82923944829245468292438182924381Frame_Shift_DelA-p.F589fs
LIHCTCGA-G3-A3CJ-01exon_skip_460711
82923944829245468292449282924492Frame_Shift_DelT-p.K552fs
LIHCTCGA-DD-A3A0-01exon_skip_460714
82925793829259678292579782925797Frame_Shift_DelT-p.T533fs
LIHCTCGA-G3-A3CJ-01exon_skip_460720
82949883829505608294991882949918Frame_Shift_DelA-p.Y96fs
STADTCGA-CG-5728-01exon_skip_460720
82949883829505608294995582949956Frame_Shift_DelTT-p.83_84del
STADTCGA-CG-5728-01exon_skip_460720
82949883829505608294995582949956Frame_Shift_DelTT-p.K83fs
STADTCGA-BR-4368-01exon_skip_460693
82891596828917458289164382891644Frame_Shift_Ins-Tp.K1226fs
STADTCGA-CG-5733-01exon_skip_460711
82923944829245468292402682924027Frame_Shift_Ins-Tp.G708fs
STADTCGA-CG-5733-01exon_skip_460711
82923944829245468292402782924028Frame_Shift_Ins-Tp.K707fs
COADTCGA-AZ-6598-01exon_skip_460711
82923944829245468292438082924381Frame_Shift_Ins-Ap.Q590fs
LIHCTCGA-BC-A112-01exon_skip_460714
82925793829259678292579682925797Frame_Shift_Ins-Tp.K533fs
UCECTCGA-BG-A0LX-01exon_skip_460698
82900790829009338290091782900917Nonsense_MutationCAp.G1150*
LUSCTCGA-37-4133-01exon_skip_460711
82923944829245468292428782924287Nonsense_MutationCAp.E621*
UCECTCGA-AX-A0J0-01exon_skip_460711
82923944829245468292432082924320Nonsense_MutationCAp.E610*
UCECTCGA-D1-A16X-01exon_skip_460711
82923944829245468292447382924473Nonsense_MutationCAp.E559*
STADTCGA-CG-4476-01exon_skip_460714
82925793829259678292589082925890Nonsense_MutationGAp.R502*
STADTCGA-CG-4476-01exon_skip_460714
82925793829259678292589082925890Nonsense_MutationGAp.R502X
UCECTCGA-BS-A0UF-01exon_skip_460716
82943876829439728294394282943942Nonsense_MutationCAp.E118*
HNSCTCGA-MT-A67F-01exon_skip_460716
82943876829439728294395182943951Nonsense_MutationGAp.Q115*
LUSCTCGA-66-2734-01exon_skip_460706
82909858829099708290985682909856Splice_SiteACp.G1009_splice
LUSCTCGA-60-2722-01exon_skip_460706
82909858829099708290985782909857Splice_SiteCAp.G1009_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
IBTK_82922423_82922510_82923943_82924546_82925792_82925906_TCGA-76-4926-01Sample: TCGA-76-4926-01
Cancer type: GBM
ESID: exon_skip_460711
Skipped exon start: 82923944
Skipped exon end: 82924546
Mutation start: 82924063
Mutation end: 82924066
Mutation type: Frame_Shift_Del
Reference seq: ACTA
Mutation seq: -
AAchange: p.V694fs
exon_skip_460711_GBM_TCGA-76-4926-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
IM95_STOMACH82891596828917458289168382891683Frame_Shift_DelT-p.K1213fs
RL952_ENDOMETRIUM82891596828917458289168382891683Frame_Shift_DelT-p.K1213fs
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE82891596828917458289168382891683Frame_Shift_DelT-p.K1213fs
HEC6_ENDOMETRIUM82923944829245468292402782924027Frame_Shift_DelT-p.K707fs
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE82923944829245468292450782924507Frame_Shift_DelA-p.F547fs
AN3CA_ENDOMETRIUM82949883829505608294991882949918Frame_Shift_DelA-p.Y96fs
EN_ENDOMETRIUM82923944829245468292438082924381Frame_Shift_Ins-AAp.Q590fs
CCK81_LARGE_INTESTINE82891596828917458289169582891695Missense_MutationAGp.L1209P
HEC1A_ENDOMETRIUM82891596828917458289171082891710Missense_MutationAGp.F1204S
HEC108_ENDOMETRIUM82906015829061188290603082906030Missense_MutationATp.H1053Q
HEC108_ENDOMETRIUM82906015829061638290603082906030Missense_MutationATp.H1053Q
JHUEM7_ENDOMETRIUM82909858829099708290987282909872Missense_MutationCTp.S1004N
LS180_LARGE_INTESTINE82909858829099708290988282909882Missense_MutationTCp.I1001V
LS180_LARGE_INTESTINE82909858829099708290989382909893Missense_MutationTCp.N997S
BT16_SOFT_TISSUE82923944829245468292402582924026Missense_MutationCCTTp.G708K
CME1_SOFT_TISSUE82923944829245468292402582924025Missense_MutationCTp.G708E
LS411N_LARGE_INTESTINE82923944829245468292404482924044Missense_MutationGAp.P702S
NCIH358_LUNG82923944829245468292411482924114Missense_MutationGTp.N678K
TGW_AUTONOMIC_GANGLIA82923944829245468292418582924185Missense_MutationTCp.K655E
HS746T_STOMACH82923944829245468292421982924219Missense_MutationTGp.L643F
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE82923944829245468292426082924260Missense_MutationAGp.Y630H
SNU1040_LARGE_INTESTINE82923944829245468292427182924271Missense_MutationTGp.D626A
KU1919_URINARY_TRACT82923944829245468292443082924430Missense_MutationCGp.R573T
ROS50_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE82923944829245468292445882924458Missense_MutationGAp.H564Y
MFE319_ENDOMETRIUM82923944829245468292452482924524Missense_MutationAGp.S542P
SW1271_LUNG82925793829259678292584482925844Missense_MutationGAp.T517I
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE82925793829259678292586682925866Missense_MutationGAp.H510Y
GAK_SKIN82925793829259678292586682925866Missense_MutationGTp.H510N
KM12_LARGE_INTESTINE82949883829505608295002882950028Missense_MutationACp.V59G
BICR18_UPPER_AERODIGESTIVE_TRACT82949883829505608295007082950070Missense_MutationGTp.A45E
BT16_SOFT_TISSUE82923944829245468292403382924033Nonsense_MutationATp.C705*
SW948_LARGE_INTESTINE82923944829245468292403382924033Nonsense_MutationATp.C705*
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE82923944829245468292394482923944Splice_SiteCAp.R735M

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

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_460698682891595:82891745:82900789:82900933:82901503:8290157182900789:82900933ENST00000306270.7,ENST00000503400.1,ENST00000471036.1,ENST00000510291.1,ENST00000445419.2,ENST00000503631.1PRADrs9449444chr6:82900811G/A1.48e-04

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


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


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RelatedDrugs for IBTK

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 IBTK

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