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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 TBCK

check button Gene summary
Gene informationGene symbol

TBCK

Gene ID

93627

Gene nameTBC1 domain containing kinase
SynonymsHSPC302|IHPRF3|TBCKL
Cytomap

4q24

Type of geneprotein-coding
DescriptionTBC domain-containing protein kinase-like protein
Modification date20180523
UniProtAcc

Q8TEA7

ContextPubMed: TBCK [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 TBCK 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 TBCK

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 TBCK

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4317164107037475:107037535:107092251:107092427:107114765:107114927107092251:107092427ENSG00000145348.12ENST00000467183.2,ENST00000394708.2,ENST00000432496.2,ENST00000514689.1,ENST00000510927.1,ENST00000394706.3,ENST00000515705.1,ENST00000361687.4,ENST00000273980.5
exon_skip_4317214107092397:107092427:107114765:107114927:107133906:107133992107114765:107114927ENSG00000145348.12ENST00000514689.1
exon_skip_4317254107114765:107114927:107115874:107115911:107133906:107133992107115874:107115911ENSG00000145348.12ENST00000467183.2,ENST00000394708.2,ENST00000432496.2,ENST00000510927.1,ENST00000394706.3,ENST00000515705.1,ENST00000361687.4,ENST00000511011.1,ENST00000273980.5
exon_skip_4317264107151519:107151603:107152885:107152936:107154094:107154221107152885:107152936ENSG00000145348.12ENST00000467183.2,ENST00000394708.2,ENST00000432496.2,ENST00000510927.1,ENST00000394706.3,ENST00000361687.4,ENST00000273980.5
exon_skip_4317274107154154:107154221:107154744:107154807:107156425:107156524107154744:107154807ENSG00000145348.12ENST00000467183.2,ENST00000394708.2,ENST00000432496.2,ENST00000510927.1,ENST00000394706.3,ENST00000361687.4,ENST00000503516.1,ENST00000508666.1,ENST00000273980.5
exon_skip_4317284107157915:107157965:107158647:107158695:107163626:107163726107158647:107158695ENSG00000145348.12ENST00000508666.1
exon_skip_4317314107165841:107165921:107168295:107168444:107171574:107171627107168295:107168444ENSG00000145348.12ENST00000505574.1
exon_skip_4317344107168295:107168444:107169401:107169463:107170077:107170139107169401:107169463ENSG00000145348.12ENST00000467183.2,ENST00000394708.2,ENST00000432496.2,ENST00000394706.3,ENST00000361687.4,ENST00000273980.5
exon_skip_4317374107171574:107171635:107172235:107172351:107173022:107173164107172235:107172351ENSG00000145348.12ENST00000503832.1
exon_skip_4317384107173140:107173164:107176103:107176204:107181593:107181667107176103:107176204ENSG00000145348.12ENST00000467183.2,ENST00000506280.1
exon_skip_4317404107181593:107181667:107183254:107183369:107216250:107216323107183254:107183369ENSG00000145348.12ENST00000467183.2,ENST00000394708.2,ENST00000509532.1,ENST00000432496.2,ENST00000394706.3,ENST00000506280.1,ENST00000273980.5
exon_skip_4317424107229924:107230146:107231083:107231124:107237087:107237392107231083:107231124ENSG00000145348.12ENST00000507696.1

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

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Exon skipping events with PSIs in GTEx for TBCK

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4317164107037475:107037535:107092251:107092427:107114765:107114927107092251:107092427ENSG00000145348.12ENST00000273980.5,ENST00000432496.2,ENST00000510927.1,ENST00000361687.4,ENST00000394706.3,ENST00000467183.2,ENST00000394708.2,ENST00000514689.1,ENST00000515705.1
exon_skip_4317214107092397:107092427:107114765:107114927:107133906:107133992107114765:107114927ENSG00000145348.12ENST00000514689.1
exon_skip_4317254107114765:107114927:107115874:107115911:107133906:107133992107115874:107115911ENSG00000145348.12ENST00000273980.5,ENST00000432496.2,ENST00000510927.1,ENST00000361687.4,ENST00000394706.3,ENST00000467183.2,ENST00000394708.2,ENST00000515705.1,ENST00000511011.1
exon_skip_4317264107151519:107151603:107152885:107152936:107154094:107154221107152885:107152936ENSG00000145348.12ENST00000273980.5,ENST00000432496.2,ENST00000510927.1,ENST00000361687.4,ENST00000394706.3,ENST00000467183.2,ENST00000394708.2
exon_skip_4317274107154154:107154221:107154744:107154807:107156425:107156524107154744:107154807ENSG00000145348.12ENST00000273980.5,ENST00000432496.2,ENST00000510927.1,ENST00000361687.4,ENST00000394706.3,ENST00000467183.2,ENST00000394708.2,ENST00000508666.1,ENST00000503516.1
exon_skip_4317284107157915:107157965:107158647:107158695:107163626:107163726107158647:107158695ENSG00000145348.12ENST00000508666.1
exon_skip_4317314107165841:107165921:107168295:107168444:107171574:107171627107168295:107168444ENSG00000145348.12ENST00000505574.1
exon_skip_4317344107168295:107168444:107169401:107169463:107170077:107170139107169401:107169463ENSG00000145348.12ENST00000273980.5,ENST00000432496.2,ENST00000361687.4,ENST00000394706.3,ENST00000467183.2,ENST00000394708.2
exon_skip_4317384107173140:107173164:107176103:107176204:107181593:107181667107176103:107176204ENSG00000145348.12ENST00000467183.2,ENST00000506280.1
exon_skip_4317404107181593:107181667:107183254:107183369:107216250:107216323107183254:107183369ENSG00000145348.12ENST00000273980.5,ENST00000432496.2,ENST00000394706.3,ENST00000467183.2,ENST00000394708.2,ENST00000506280.1,ENST00000509532.1
exon_skip_4317424107229924:107230146:107231083:107231124:107237087:107237392107231083:107231124ENSG00000145348.12ENST00000507696.1

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 TBCK

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
ENST00000273980107092251107092427Frame-shift
ENST00000394708107092251107092427Frame-shift
ENST00000432496107092251107092427Frame-shift
ENST00000273980107115874107115911Frame-shift
ENST00000394708107115874107115911Frame-shift
ENST00000432496107115874107115911Frame-shift
ENST00000273980107169401107169463Frame-shift
ENST00000394708107169401107169463Frame-shift
ENST00000432496107169401107169463Frame-shift
ENST00000273980107183254107183369Frame-shift
ENST00000394708107183254107183369Frame-shift
ENST00000432496107183254107183369Frame-shift
ENST00000273980107152885107152936In-frame
ENST00000394708107152885107152936In-frame
ENST00000432496107152885107152936In-frame
ENST00000273980107154744107154807In-frame
ENST00000394708107154744107154807In-frame
ENST00000432496107154744107154807In-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
ENST00000273980107092251107092427Frame-shift
ENST00000394708107092251107092427Frame-shift
ENST00000432496107092251107092427Frame-shift
ENST00000273980107115874107115911Frame-shift
ENST00000394708107115874107115911Frame-shift
ENST00000432496107115874107115911Frame-shift
ENST00000273980107169401107169463Frame-shift
ENST00000394708107169401107169463Frame-shift
ENST00000432496107169401107169463Frame-shift
ENST00000273980107183254107183369Frame-shift
ENST00000394708107183254107183369Frame-shift
ENST00000432496107183254107183369Frame-shift
ENST00000273980107152885107152936In-frame
ENST00000394708107152885107152936In-frame
ENST00000432496107152885107152936In-frame
ENST00000273980107154744107154807In-frame
ENST00000394708107154744107154807In-frame
ENST00000432496107154744107154807In-frame

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

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
ENST00000273980811889310715474410715480718981960483504
ENST00000394708306489310715474410715480718151877483504
ENST00000432496337989310715474410715480716361698483504
ENST00000273980811889310715288510715293620882138546563
ENST00000394708306489310715288510715293620052055546563
ENST00000432496337989310715288510715293618261876546563

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
ENST00000273980811889310715474410715480718981960483504
ENST00000394708306489310715474410715480718151877483504
ENST00000432496337989310715474410715480716361698483504
ENST00000273980811889310715288510715293620882138546563
ENST00000394708306489310715288510715293620052055546563
ENST00000432496337989310715288510715293618261876546563

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 TBCK

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
LIHCTCGA-DD-A3A0-01exon_skip_431716
107092252107092427107092289107092289Frame_Shift_DelA-p.F733fs
HNSCTCGA-CV-6939-01exon_skip_431716
107092252107092427107092375107092382Frame_Shift_DelAGTCCAAC-p.C702fs
HNSCTCGA-CV-6939-01exon_skip_431716
107092252107092427107092375107092382Frame_Shift_DelAGTCCAAC-p.CWT702fs
LIHCTCGA-DD-A1EG-01exon_skip_431716
107092252107092427107092383107092383Frame_Shift_DelA-p.C702fs
LIHCTCGA-G3-A3CJ-01exon_skip_431716
107092252107092427107092383107092383Frame_Shift_DelA-p.C702fs
LIHCTCGA-DD-A3A0-01exon_skip_431721
107114766107114927107114813107114813Frame_Shift_DelA-p.L671fs
COADTCGA-AY-6197-01exon_skip_431725
107115875107115911107115874107115874Splice_SiteCT.

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
CCK81_LARGE_INTESTINE107092252107092427107092301107092301Missense_MutationGAp.S729L
HCC2998_LARGE_INTESTINE107092252107092427107092301107092301Missense_MutationGAp.S729L
SNU886_LIVER107092252107092427107092319107092319Missense_MutationCTp.S723N
SNUC5_LARGE_INTESTINE107092252107092427107092320107092320Missense_MutationTCp.S723G
NCIH2227_LUNG107092252107092427107092418107092418Missense_MutationAGp.I690T
HEC251_ENDOMETRIUM107114766107114927107114772107114772Missense_MutationACp.L685V
SW756_CERVIX107114766107114927107114820107114820Missense_MutationGAp.R669W
NCIH250_LUNG107114766107114927107114823107114823Missense_MutationCAp.D668Y
HS600T_FIBROBLAST107114766107114927107114837107114837Missense_MutationAGp.L663P
TK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE107168296107168444107168356107168356Missense_MutationAGp.S291P
MDAMB330_BREAST107169402107169463107169408107169408Missense_MutationGCp.S259C
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE107183255107183369107183344107183344Missense_MutationATp.F98I
T24_URINARY_TRACT107168296107168444107168397107168397Nonsense_MutationGTp.S277*
SLR20_KIDNEY107168296107168444107168397107168397Nonsense_MutationGTp.S277*
ACCS_URINARY_TRACT107168296107168444107168397107168397Nonsense_MutationGTp.S277*
HCT15_LARGE_INTESTINE107154745107154807107154745107154745Splice_SiteTGp.Q504H
HRT18_LARGE_INTESTINE107154745107154807107154745107154745Splice_SiteTGp.Q504H

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

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_4317424107229924:107230146:107231083:107231124:107237087:107237392107231083:107231124ENST00000507696.1KIRCrs3109959chr4:107231078A/G5.71e-04
exon_skip_4317384107173140:107173164:107176103:107176204:107181593:107181667107176103:107176204ENST00000467183.2,ENST00000506280.1BLCArs12639869chr4:107176104C/A1.58e-06
exon_skip_4317384107173140:107173164:107176103:107176204:107181593:107181667107176103:107176204ENST00000467183.2,ENST00000506280.1BLCArs12639869chr4:107176104C/A1.58e-06
exon_skip_4317384107173140:107173164:107176103:107176204:107181593:107181667107176103:107176204ENST00000467183.2,ENST00000506280.1ESCArs12639869chr4:107176104C/A1.62e-16
exon_skip_4317384107173140:107173164:107176103:107176204:107181593:107181667107176103:107176204ENST00000467183.2,ENST00000506280.1HNSCrs12639869chr4:107176104C/A8.16e-06
exon_skip_4317384107173140:107173164:107176103:107176204:107181593:107181667107176103:107176204ENST00000467183.2,ENST00000506280.1HNSCrs12639869chr4:107176104C/A8.16e-06
exon_skip_4317384107173140:107173164:107176103:107176204:107181593:107181667107176103:107176204ENST00000467183.2,ENST00000506280.1BRCArs12639869chr4:107176104C/A7.85e-11
exon_skip_4317384107173140:107173164:107176103:107176204:107181593:107181667107176103:107176204ENST00000467183.2,ENST00000506280.1BRCArs12639869chr4:107176104C/A7.85e-11
exon_skip_4317384107173140:107173164:107176103:107176204:107181593:107181667107176103:107176204ENST00000467183.2,ENST00000506280.1LAMLrs12639869chr4:107176104C/A6.06e-11
exon_skip_4317384107173140:107173164:107176103:107176204:107181593:107181667107176103:107176204ENST00000467183.2,ENST00000506280.1KIRPrs12639869chr4:107176104C/A1.26e-06
exon_skip_4317384107173140:107173164:107176103:107176204:107181593:107181667107176103:107176204ENST00000467183.2,ENST00000506280.1KIRPrs12639869chr4:107176104C/A1.26e-06
exon_skip_4317384107173140:107173164:107176103:107176204:107181593:107181667107176103:107176204ENST00000467183.2,ENST00000506280.1LGGrs12639869chr4:107176104C/A4.37e-05
exon_skip_4317384107173140:107173164:107176103:107176204:107181593:107181667107176103:107176204ENST00000467183.2,ENST00000506280.1LGGrs12639869chr4:107176104C/A4.37e-05
exon_skip_4317384107173140:107173164:107176103:107176204:107181593:107181667107176103:107176204ENST00000467183.2,ENST00000506280.1KIRCrs12639869chr4:107176104C/A4.26e-24
exon_skip_4317384107173140:107173164:107176103:107176204:107181593:107181667107176103:107176204ENST00000467183.2,ENST00000506280.1KIRCrs12639869chr4:107176104C/A6.94e-06
exon_skip_4317384107173140:107173164:107176103:107176204:107181593:107181667107176103:107176204ENST00000467183.2,ENST00000506280.1KIRCrs12639869chr4:107176104C/A1.64e-04
exon_skip_4317384107173140:107173164:107176103:107176204:107181593:107181667107176103:107176204ENST00000467183.2,ENST00000506280.1LUADrs12639869chr4:107176104C/A6.58e-05
exon_skip_4317384107173140:107173164:107176103:107176204:107181593:107181667107176103:107176204ENST00000467183.2,ENST00000506280.1LUADrs12639869chr4:107176104C/A6.58e-05
exon_skip_4317384107173140:107173164:107176103:107176204:107181593:107181667107176103:107176204ENST00000467183.2,ENST00000506280.1PCPGrs12639869chr4:107176104C/A7.47e-05
exon_skip_4317384107173140:107173164:107176103:107176204:107181593:107181667107176103:107176204ENST00000467183.2,ENST00000506280.1PCPGrs12639869chr4:107176104C/A7.47e-05
exon_skip_4317384107173140:107173164:107176103:107176204:107181593:107181667107176103:107176204ENST00000467183.2,ENST00000506280.1PRADrs12639869chr4:107176104C/A1.88e-06
exon_skip_4317384107173140:107173164:107176103:107176204:107181593:107181667107176103:107176204ENST00000467183.2,ENST00000506280.1PRADrs12639869chr4:107176104C/A1.88e-06
exon_skip_4317384107173140:107173164:107176103:107176204:107181593:107181667107176103:107176204ENST00000467183.2,ENST00000506280.1SARCrs12639869chr4:107176104C/A3.14e-04
exon_skip_4317384107173140:107173164:107176103:107176204:107181593:107181667107176103:107176204ENST00000467183.2,ENST00000506280.1SARCrs12639869chr4:107176104C/A3.14e-04
exon_skip_4317384107173140:107173164:107176103:107176204:107181593:107181667107176103:107176204ENST00000467183.2,ENST00000506280.1STADrs12639869chr4:107176104C/A8.37e-21
exon_skip_4317384107173140:107173164:107176103:107176204:107181593:107181667107176103:107176204ENST00000467183.2,ENST00000506280.1THCArs12639869chr4:107176104C/A1.00e-08
exon_skip_4317384107173140:107173164:107176103:107176204:107181593:107181667107176103:107176204ENST00000467183.2,ENST00000506280.1THCArs12639869chr4:107176104C/A1.02e-08

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


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


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RelatedDrugs for TBCK

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 TBCK

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
TBCKC4225161HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 32UNIPROT