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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 SUPT6H

check button Gene summary
Gene informationGene symbol

SUPT6H

Gene ID

6830

Gene nameSPT6 homolog, histone chaperone
SynonymsSPT6|SPT6H|emb-5
Cytomap

17q11.2

Type of geneprotein-coding
Descriptiontranscription elongation factor SPT6histone chaperone suppressor of Ty6suppressor of Ty 6 homologtat-CT2 proteintat-cotransactivator 2 protein
Modification date20180523
UniProtAcc

Q7KZ85

ContextPubMed: SUPT6H [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 SUPT6H 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 SUPT6H

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 SUPT6H

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1503341726989215:26989360:26999774:26999876:27000388:2700052826999774:26999876ENSG00000109111.10ENST00000347486.4
exon_skip_1503381727004732:27004834:27005093:27005210:27005562:2700565227005093:27005210ENSG00000109111.10ENST00000347486.4,ENST00000314616.6
exon_skip_1503391727005562:27005652:27005838:27005981:27008273:2700842227005838:27005981ENSG00000109111.10ENST00000347486.4,ENST00000314616.6
exon_skip_1503411727009744:27009874:27009959:27010110:27010285:2701044027009959:27010110ENSG00000109111.10ENST00000347486.4,ENST00000314616.6
exon_skip_1503431727011861:27011979:27013356:27013433:27013671:2701380727013356:27013433ENSG00000109111.10ENST00000347486.4,ENST00000314616.6
exon_skip_1503441727014367:27014489:27015108:27015236:27016371:2701644527015108:27015236ENSG00000109111.10ENST00000347486.4,ENST00000314616.6,ENST00000581908.1
exon_skip_1503491727017099:27017247:27017938:27018081:27020713:2702085427017938:27018081ENSG00000109111.10ENST00000347486.4,ENST00000314616.6
exon_skip_1503511727017938:27018081:27020713:27020854:27022369:2702256527020713:27020854ENSG00000109111.10ENST00000347486.4,ENST00000314616.6
exon_skip_1503531727024637:27024751:27024923:27025048:27026798:2702691127024923:27025048ENSG00000109111.10ENST00000347486.4,ENST00000314616.6
exon_skip_1503591727027363:27027530:27027958:27028146:27028456:2702855727027958:27028146ENSG00000109111.10ENST00000347486.4,ENST00000314616.6

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

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Exon skipping events with PSIs in GTEx for SUPT6H

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1503341726989215:26989360:26999774:26999876:27000388:2700052826999774:26999876ENSG00000109111.10ENST00000347486.4
exon_skip_1503381727004732:27004834:27005093:27005210:27005562:2700565227005093:27005210ENSG00000109111.10ENST00000314616.6,ENST00000347486.4
exon_skip_1503391727005562:27005652:27005838:27005981:27008273:2700842227005838:27005981ENSG00000109111.10ENST00000314616.6,ENST00000347486.4
exon_skip_1503411727009744:27009874:27009959:27010110:27010285:2701044027009959:27010110ENSG00000109111.10ENST00000314616.6,ENST00000347486.4
exon_skip_1503431727011861:27011979:27013356:27013433:27013671:2701380727013356:27013433ENSG00000109111.10ENST00000314616.6,ENST00000347486.4
exon_skip_1503441727014367:27014489:27015108:27015236:27016371:2701644527015108:27015236ENSG00000109111.10ENST00000314616.6,ENST00000347486.4,ENST00000581908.1
exon_skip_1503491727017099:27017247:27017938:27018081:27020713:2702085427017938:27018081ENSG00000109111.10ENST00000314616.6,ENST00000347486.4
exon_skip_1503511727017938:27018081:27020713:27020854:27022369:2702256527020713:27020854ENSG00000109111.10ENST00000314616.6,ENST00000347486.4
exon_skip_1503531727024637:27024751:27024923:27025048:27026798:2702691127024923:27025048ENSG00000109111.10ENST00000314616.6,ENST00000347486.4
exon_skip_1503591727027363:27027530:27027958:27028146:27028456:2702855727027958:27028146ENSG00000109111.10ENST00000314616.6,ENST00000347486.4

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 SUPT6H

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
ENST0000034748626999774269998765UTR-5UTR
ENST000003146162700583827005981Frame-shift
ENST000003474862700583827005981Frame-shift
ENST000003146162700995927010110Frame-shift
ENST000003474862700995927010110Frame-shift
ENST000003146162701335627013433Frame-shift
ENST000003474862701335627013433Frame-shift
ENST000003146162701510827015236Frame-shift
ENST000003474862701510827015236Frame-shift
ENST000003146162701793827018081Frame-shift
ENST000003474862701793827018081Frame-shift
ENST000003146162702492327025048Frame-shift
ENST000003474862702492327025048Frame-shift
ENST000003146162702795827028146Frame-shift
ENST000003474862702795827028146Frame-shift
ENST000003146162700509327005210In-frame
ENST000003474862700509327005210In-frame
ENST000003146162702071327020854In-frame
ENST000003474862702071327020854In-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
ENST0000034748626999774269998765UTR-5UTR
ENST000003146162700583827005981Frame-shift
ENST000003474862700583827005981Frame-shift
ENST000003146162700995927010110Frame-shift
ENST000003474862700995927010110Frame-shift
ENST000003146162701335627013433Frame-shift
ENST000003474862701335627013433Frame-shift
ENST000003146162701510827015236Frame-shift
ENST000003474862701510827015236Frame-shift
ENST000003146162701793827018081Frame-shift
ENST000003474862701793827018081Frame-shift
ENST000003146162702492327025048Frame-shift
ENST000003474862702492327025048Frame-shift
ENST000003146162702795827028146Frame-shift
ENST000003474862702795827028146Frame-shift
ENST000003146162700509327005210In-frame
ENST000003474862700509327005210In-frame
ENST000003146162702071327020854In-frame
ENST000003474862702071327020854In-frame

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Infer the effects of exon skipping event on protein functional features for SUPT6H

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
ENST0000031461665351726270050932700521012831399333372
ENST0000034748655861726270050932700521012781394333372
ENST000003146166535172627020713270208543917405712111258
ENST000003474865586172627020713270208543912405212111258

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
ENST0000031461665351726270050932700521012831399333372
ENST0000034748655861726270050932700521012781394333372
ENST000003146166535172627020713270208543917405712111258
ENST000003474865586172627020713270208543912405212111258

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 SUPT6H

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_150341
27009960270101102701008827010088Frame_Shift_DelC-p.T619fs
LUADTCGA-50-5931-01exon_skip_150344
27015109270152362701514327015143Frame_Shift_DelG-p.R1014fs
LIHCTCGA-DD-A3A0-01exon_skip_150359
27027959270281462702796427027964Frame_Shift_DelC-p.F1604fs
PAADTCGA-HV-AA8X-01exon_skip_150359
27027959270281462702814327028144Frame_Shift_Ins-AAp.P1664fs
LGGTCGA-DU-6392-01exon_skip_150351
27020714270208542702084627020846Nonsense_MutationCTp.R1256*
UCECTCGA-DI-A0WH-01exon_skip_150359
27027959270281462702798027027980Nonsense_MutationCTp.Q1610*
KICHTCGA-KN-8432-01exon_skip_150359
27027959270281462702805227028052Nonsense_MutationCTp.Q1634X
BLCATCGA-FD-A3B6-01exon_skip_150359
27027959270281462702813927028139Nonsense_MutationCTp.Q1663*

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
OC316_OVARY27005094270052102700513327005133Missense_MutationAGp.S347G
OC314_OVARY27005094270052102700513327005133Missense_MutationAGp.S347G
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE27005094270052102700517927005179Missense_MutationCTp.A362V
UACC812_BREAST27005094270052102700518227005182Missense_MutationTAp.L363Q
C4I_CERVIX27005094270052102700520827005208Missense_MutationGCp.E372Q
NCIH596_LUNG27005839270059812700588427005884Missense_MutationGCp.E418Q
NCIH378_LUNG27005839270059812700591827005918Missense_MutationCTp.S429F
NCIH596_LUNG27005839270059812700597127005971Missense_MutationGAp.D447N
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE27009960270101102700998527009985Missense_MutationCAp.L585I
NCIH522_LUNG27009960270101102701003327010033Missense_MutationCTp.L601F
MERO84_LUNG27009960270101102701009127010091Missense_MutationCTp.P620L
TE9_OESOPHAGUS27013357270134332701342627013426Missense_MutationGAp.E853K
LP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE27015109270152362701515427015154Missense_MutationGCp.V1018L
SNU175_LARGE_INTESTINE27017939270180812701798127017981Missense_MutationGAp.R1178H
2313287_STOMACH27017939270180812701801427018014Missense_MutationGAp.R1189H
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE27020714270208542702073927020739Missense_MutationCTp.S1220L
TGBC11TKB_STOMACH27020714270208542702074727020747Missense_MutationGTp.G1223C
647V_URINARY_TRACT27024924270250482702500927025009Missense_MutationGAp.G1470D
HCC1833_LUNG27027959270281462702806027028060Missense_MutationCAp.H1636Q
SNU1040_LARGE_INTESTINE27027959270281462702812527028125Missense_MutationGAp.R1658Q
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE27020714270208542702085327020853Splice_SiteAGp.K1258R

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SUPT6H

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 SUPT6H


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SUPT6H


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RelatedDrugs for SUPT6H

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 SUPT6H

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