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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 SZT2

check button Gene summary
Gene informationGene symbol

SZT2

Gene ID

23334

Gene nameSZT2, KICSTOR complex subunit
SynonymsC1orf84|EIEE18|KIAA0467|SZT2A|SZT2B
Cytomap

1p34.2

Type of geneprotein-coding
DescriptionKICSTOR complex protein SZT2protein SZT2seizure threshold 2 homologseizure threshold 2 protein homolog
Modification date20180523
UniProtAcc

Q5T011

ContextPubMed: SZT2 [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 SZT2 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 SZT2

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 SZT2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_5060143869277:43869445:43870050:43870221:43871953:4387256443870050:43870221ENSG00000198198.9ENST00000310739.4,ENST00000372450.4
exon_skip_5061143869277:43869445:43870050:43870221:43875163:4387599243870050:43870221ENSG00000198198.9ENST00000406439.2,ENST00000357658.3
exon_skip_5062143869277:43869445:43870050:43870221:43880752:4388088443870050:43870221ENSG00000198198.9ENST00000562955.1
exon_skip_5071143880752:43880884:43881630:43881772:43882205:4388231243881630:43881772ENSG00000198198.9ENST00000562955.1
exon_skip_5074143882205:43882312:43885404:43885615:43885823:4388599443885404:43885615ENSG00000198198.9ENST00000562955.1
exon_skip_5076143886844:43886974:43887753:43887896:43888150:4388830343887753:43887896ENSG00000198198.9ENST00000470139.1,ENST00000562955.1
exon_skip_5077143887753:43887896:43888150:43888303:43888439:4388855443888150:43888303ENSG00000198198.9ENST00000470139.1,ENST00000562955.1
exon_skip_5080143891708:43891822:43892108:43892209:43892385:4389248043892108:43892209ENSG00000198198.9ENST00000470139.1
exon_skip_5082143892385:43892480:43892726:43892850:43892951:4389311643892726:43892850ENSG00000198198.9ENST00000470139.1,ENST00000562955.1,ENST00000372442.1
exon_skip_5088143898187:43898275:43898398:43898470:43898659:4389886143898398:43898470ENSG00000198198.9ENST00000562955.1,ENST00000372442.1
exon_skip_5092143898659:43898861:43900056:43900156:43900870:4390100043900056:43900156ENSG00000198198.9ENST00000562955.1,ENST00000372442.1
exon_skip_5095143903461:43903573:43904369:43904488:43904599:4390476443904369:43904488ENSG00000198198.9ENST00000562955.1,ENST00000372442.1
exon_skip_5096143909022:43909148:43909267:43909467:43911564:4391165543909267:43909467ENSG00000198198.9ENST00000562955.1,ENST00000372442.1
exon_skip_5097143909267:43909467:43911564:43911655:43911849:4391193043911564:43911655ENSG00000198198.9ENST00000562955.1,ENST00000372442.1
exon_skip_5098143911849:43911930:43912012:43912087:43912625:4391283943912012:43912087ENSG00000198198.9ENST00000460536.1,ENST00000562955.1,ENST00000372442.1

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

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Exon skipping events with PSIs in GTEx for SZT2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_5060143869277:43869445:43870050:43870221:43871953:4387256443870050:43870221ENSG00000198198.9ENST00000372450.4,ENST00000310739.4
exon_skip_5061143869277:43869445:43870050:43870221:43875163:4387599243870050:43870221ENSG00000198198.9ENST00000357658.3,ENST00000406439.2
exon_skip_5062143869277:43869445:43870050:43870221:43880752:4388088443870050:43870221ENSG00000198198.9ENST00000562955.1
exon_skip_5071143880752:43880884:43881630:43881772:43882205:4388231243881630:43881772ENSG00000198198.9ENST00000562955.1
exon_skip_5074143882205:43882312:43885404:43885615:43885823:4388599443885404:43885615ENSG00000198198.9ENST00000562955.1
exon_skip_5076143886844:43886974:43887753:43887896:43888150:4388830343887753:43887896ENSG00000198198.9ENST00000562955.1,ENST00000470139.1
exon_skip_5077143887753:43887896:43888150:43888303:43888439:4388855443888150:43888303ENSG00000198198.9ENST00000562955.1,ENST00000470139.1
exon_skip_5080143891708:43891822:43892108:43892209:43892385:4389248043892108:43892209ENSG00000198198.9ENST00000470139.1
exon_skip_5082143892385:43892480:43892726:43892850:43892951:4389311643892726:43892850ENSG00000198198.9ENST00000562955.1,ENST00000470139.1,ENST00000372442.1
exon_skip_5088143898187:43898275:43898398:43898470:43898659:4389886143898398:43898470ENSG00000198198.9ENST00000562955.1,ENST00000372442.1
exon_skip_5092143898659:43898861:43900056:43900156:43900870:4390100043900056:43900156ENSG00000198198.9ENST00000562955.1,ENST00000372442.1
exon_skip_5095143903461:43903573:43904369:43904488:43904599:4390476443904369:43904488ENSG00000198198.9ENST00000562955.1,ENST00000372442.1
exon_skip_5096143909022:43909148:43909267:43909467:43911564:4391165543909267:43909467ENSG00000198198.9ENST00000562955.1,ENST00000372442.1
exon_skip_5097143909267:43909467:43911564:43911655:43911849:4391193043911564:43911655ENSG00000198198.9ENST00000562955.1,ENST00000372442.1
exon_skip_5098143911849:43911930:43912012:43912087:43912625:4391283943912012:43912087ENSG00000198198.9ENST00000562955.1,ENST00000372442.1,ENST00000460536.1

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 SZT2

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 SZT2

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 SZT2

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_5082
43892727438928504389277243892772Frame_Shift_DelC-p.P1063fs
LIHCTCGA-G3-A3CJ-01exon_skip_5082
43892727438928504389277243892772Frame_Shift_DelC-p.P1063fs
LIHCTCGA-DD-A39Y-01exon_skip_5088
43898399438984704389842043898420Frame_Shift_DelG-p.R1794fs
UCECTCGA-B5-A0K9-01exon_skip_5092
43900057439001564390007643900076Frame_Shift_DelG-p.G1043fs
UCECTCGA-D1-A0ZS-01exon_skip_5092
43900057439001564390007643900076Frame_Shift_DelG-p.G1043fs
READTCGA-AG-3731-01exon_skip_5092
43900057439001564390012843900128Frame_Shift_DelT-p.V1902fs
UCSTCGA-N7-A4Y0-01exon_skip_5096
43909268439094674390934043909340Frame_Shift_DelC-p.P2844fs
UCSTCGA-N7-A4Y0-01exon_skip_5096
43909268439094674390934043909340Frame_Shift_DelC-p.S2842fs
LIHCTCGA-DD-A3A0-01exon_skip_5096
43909268439094674390944843909448Frame_Shift_DelC-p.P2880fs
LGGTCGA-HW-A5KJ-01exon_skip_5098
43912013439120874391203043912033Frame_Shift_DelCAAA-p.2948_2949del
LGGTCGA-HW-A5KJ-01exon_skip_5098
43912013439120874391203043912033Frame_Shift_DelCAAA-p.VK2948fs
LUADTCGA-17-Z041-01exon_skip_5071
43881631438817724388175843881758Nonsense_MutationCAp.S253*
BLCATCGA-MV-A51V-01exon_skip_5088
43898399438984704389845943898459Nonsense_MutationCGp.S1807*
UCECTCGA-D1-A15X-01exon_skip_5096
43909268439094674390940643909406Nonsense_MutationCTp.Q2023*

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
H3118_UPPER_AERODIGESTIVE_TRACT43887754438878964388776443887764Frame_Shift_DelT-p.L546fs
SKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE43887754438878964388786943887869Frame_Shift_DelG-p.R581fs
MFE319_ENDOMETRIUM43909268439094674390934043909340Frame_Shift_DelC-p.P2844fs
SKUT1_SOFT_TISSUE43909268439094674390934043909340Frame_Shift_DelC-p.P2844fs
CAL51_BREAST43900057439001564390007543900076Frame_Shift_Ins-Gp.G1885fs
SKMEL3_SKIN43870051438702214387012343870123Missense_MutationCTp.R134W
JVM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE43870051438702214387018443870184Missense_MutationATp.Q154L
NCIH740_LUNG43870051438702214387019343870193Missense_MutationCTp.S157F
MDAMB415_BREAST43885405438856154388542643885426Missense_MutationGTp.D301Y
MCF7_BREAST43885405438856154388547543885475Missense_MutationCGp.A317G
KPL1_BREAST43885405438856154388547543885475Missense_MutationCGp.A317G
HEC6_ENDOMETRIUM43885405438856154388558043885580Missense_MutationGAp.R352H
2313287_STOMACH43885405438856154388558043885580Missense_MutationGAp.R352H
WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE43887754438878964388779143887791Missense_MutationAGp.H555R
NCIH1155_LUNG43887754438878964388786943887869Missense_MutationGAp.R581H
MEC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE43888151438883034388819243888192Missense_MutationGAp.R604H
TE15_OESOPHAGUS43898399438984704389842043898420Missense_MutationGAp.R1794Q
KYSE70_OESOPHAGUS43900057439001564390009543900095Missense_MutationGTp.C1891F
HCT15_LARGE_INTESTINE43904370439044884390437743904377Missense_MutationGTp.E2115D
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE43904370439044884390438243904382Missense_MutationCTp.T2117M
SISO_CERVIX43904370439044884390442243904422Missense_MutationGTp.E2130D
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE43904370439044884390442243904422Missense_MutationGTp.E2130D
SNU1040_LARGE_INTESTINE43904370439044884390445643904456Missense_MutationCTp.R2142W
LS411N_LARGE_INTESTINE43904370439044884390446343904463Missense_MutationGAp.C2144Y
NUGC3_STOMACH43904370439044884390448343904483Missense_MutationGAp.V2151M
KYSE450_OESOPHAGUS43909268439094674390934743909347Missense_MutationGTp.G2845V
MEWO_SKIN43909268439094674390935243909352Missense_MutationCTp.R2847C
GI1_CENTRAL_NERVOUS_SYSTEM43909268439094674390935343909353Missense_MutationGAp.R2847H
HCC1599_BREAST43909268439094674390938443909384Missense_MutationGCp.L2857F
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE43909268439094674390941943909419Missense_MutationGAp.S2869N
SNUC2A_LARGE_INTESTINE43909268439094674390943043909430Missense_MutationGCp.V2873L
SNUC2B_LARGE_INTESTINE43909268439094674390943043909430Missense_MutationGCp.V2873L
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE43911565439116554391158843911588Missense_MutationCTp.A2893V
TK10_KIDNEY43887754438878964388779643887796Nonsense_MutationCTp.Q557*
BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE43898399438984704389840043898400Splice_SiteGAp.G1787G

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SZT2

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_5096143909022:43909148:43909267:43909467:43911564:4391165543909267:43909467ENST00000562955.1,ENST00000372442.1HNSCrs2255632chr1:43909265C/T3.52e-04
exon_skip_5096143909022:43909148:43909267:43909467:43911564:4391165543909267:43909467ENST00000562955.1,ENST00000372442.1BRCArs2255632chr1:43909265C/T3.69e-03
exon_skip_5096143909022:43909148:43909267:43909467:43911564:4391165543909267:43909467ENST00000562955.1,ENST00000372442.1KIRCrs2255632chr1:43909265C/T1.92e-05
exon_skip_5096143909022:43909148:43909267:43909467:43911564:4391165543909267:43909467ENST00000562955.1,ENST00000372442.1KIRCrs2255632chr1:43909265C/T6.62e-05
exon_skip_5080143891708:43891822:43892108:43892209:43892385:4389248043892108:43892209ENST00000470139.1HNSCrs2782646chr1:43892189G/A6.86e-05
exon_skip_5080143891708:43891822:43892108:43892209:43892385:4389248043892108:43892209ENST00000470139.1BRCArs2782646chr1:43892189G/A1.04e-03
exon_skip_5080143891708:43891822:43892108:43892209:43892385:4389248043892108:43892209ENST00000470139.1KIRCrs2782646chr1:43892189G/A4.09e-05
exon_skip_5080143891708:43891822:43892108:43892209:43892385:4389248043892108:43892209ENST00000470139.1KIRCrs2782646chr1:43892189G/A4.37e-05
exon_skip_5080143891708:43891822:43892108:43892209:43892385:4389248043892108:43892209ENST00000470139.1LUADrs2782646chr1:43892189G/A8.67e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SZT2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SZT2


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RelatedDrugs for SZT2

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 SZT2

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