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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 EXOC6

check button Gene summary
Gene informationGene symbol

EXOC6

Gene ID

54536

Gene nameexocyst complex component 6
SynonymsEXOC6A|SEC15|SEC15L|SEC15L1|SEC15L3|Sec15p
Cytomap

10q23.33

Type of geneprotein-coding
Descriptionexocyst complex component 6SEC15-like 1SEC15-like protein 3exocyst complex component Sec15Arsec15-like protein
Modification date20180523
UniProtAcc

Q8TAG9

ContextPubMed: EXOC6 [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 EXOC6 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 EXOC6

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 EXOC6

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_438811094653105:94653277:94654550:94654598:94654686:9465477794654550:94654598ENSG00000138190.12ENST00000443748.2,ENST00000260762.6,ENST00000371552.4,ENST00000371547.4,ENST00000371543.1
exon_skip_438821094654686:94654777:94659355:94659401:94669183:9466938894659355:94659401ENSG00000138190.12ENST00000443748.2,ENST00000260762.6,ENST00000371552.4,ENST00000371547.4
exon_skip_438831094659355:94659401:94669183:94669388:94675514:9467567094669183:94669388ENSG00000138190.12ENST00000443748.2,ENST00000260762.6,ENST00000371552.4,ENST00000371547.4
exon_skip_438841094669240:94669388:94675514:94675670:94679738:9467980794675514:94675670ENSG00000138190.12ENST00000260762.6,ENST00000371552.4,ENST00000371547.4
exon_skip_438851094669240:94669388:94675514:94675670:94688095:9468817994675514:94675670ENSG00000138190.12ENST00000443748.2
exon_skip_438891094675514:94675670:94679738:94679807:94688095:9468817994679738:94679807ENSG00000138190.12ENST00000260762.6,ENST00000371552.4,ENST00000371547.4
exon_skip_438911094688130:94688179:94693900:94693947:94694066:9469418794693900:94693947ENSG00000138190.12ENST00000495132.1,ENST00000260762.6,ENST00000371552.4,ENST00000371547.4
exon_skip_438961094693900:94693947:94694066:94694187:94695570:9469564294694066:94694187ENSG00000138190.12ENST00000495132.1,ENST00000260762.6,ENST00000371552.4,ENST00000371547.4
exon_skip_438971094694066:94694187:94695570:94695642:94700483:9470058194695570:94695642ENSG00000138190.12ENST00000495132.1,ENST00000260762.6,ENST00000371552.4,ENST00000371547.4
exon_skip_438981094695570:94695642:94700483:94700581:94708030:9470813694700483:94700581ENSG00000138190.12ENST00000495132.1,ENST00000260762.6,ENST00000371552.4,ENST00000371547.4
exon_skip_438991094715336:94715471:94733809:94733989:94757230:9475737294733809:94733989ENSG00000138190.12ENST00000495132.1,ENST00000443748.2,ENST00000260762.6,ENST00000371552.4,ENST00000371547.4
exon_skip_439011094733809:94733989:94757230:94757372:94773950:9477402494757230:94757372ENSG00000138190.12ENST00000443748.2,ENST00000260762.6,ENST00000371552.4,ENST00000371547.4
exon_skip_439041094757230:94757372:94759006:94759144:94773950:9477402494759006:94759144ENSG00000138190.12ENST00000495132.1

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

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Exon skipping events with PSIs in GTEx for EXOC6

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_438811094653105:94653277:94654550:94654598:94654686:9465477794654550:94654598ENSG00000138190.12ENST00000371547.4,ENST00000371552.4,ENST00000371543.1,ENST00000443748.2,ENST00000260762.6
exon_skip_438821094654686:94654777:94659355:94659401:94669183:9466938894659355:94659401ENSG00000138190.12ENST00000371547.4,ENST00000371552.4,ENST00000443748.2,ENST00000260762.6
exon_skip_438831094659355:94659401:94669183:94669388:94675514:9467567094669183:94669388ENSG00000138190.12ENST00000371547.4,ENST00000371552.4,ENST00000443748.2,ENST00000260762.6
exon_skip_438841094669240:94669388:94675514:94675670:94679738:9467980794675514:94675670ENSG00000138190.12ENST00000371547.4,ENST00000371552.4,ENST00000260762.6
exon_skip_438851094669240:94669388:94675514:94675670:94688095:9468817994675514:94675670ENSG00000138190.12ENST00000443748.2
exon_skip_438891094675514:94675670:94679738:94679807:94688095:9468817994679738:94679807ENSG00000138190.12ENST00000371547.4,ENST00000371552.4,ENST00000260762.6
exon_skip_438911094688130:94688179:94693900:94693947:94694066:9469418794693900:94693947ENSG00000138190.12ENST00000371547.4,ENST00000371552.4,ENST00000260762.6,ENST00000495132.1
exon_skip_438961094693900:94693947:94694066:94694187:94695570:9469564294694066:94694187ENSG00000138190.12ENST00000371547.4,ENST00000371552.4,ENST00000260762.6,ENST00000495132.1
exon_skip_438971094694066:94694187:94695570:94695642:94700483:9470058194695570:94695642ENSG00000138190.12ENST00000371547.4,ENST00000371552.4,ENST00000260762.6,ENST00000495132.1
exon_skip_438981094695570:94695642:94700483:94700581:94708030:9470813694700483:94700581ENSG00000138190.12ENST00000371547.4,ENST00000371552.4,ENST00000260762.6,ENST00000495132.1
exon_skip_438991094715336:94715471:94733809:94733989:94757230:9475737294733809:94733989ENSG00000138190.12ENST00000371547.4,ENST00000371552.4,ENST00000443748.2,ENST00000260762.6,ENST00000495132.1
exon_skip_439011094733809:94733989:94757230:94757372:94773950:9477402494757230:94757372ENSG00000138190.12ENST00000371547.4,ENST00000371552.4,ENST00000443748.2,ENST00000260762.6
exon_skip_439041094757230:94757372:94759006:94759144:94773950:9477402494759006:94759144ENSG00000138190.12ENST00000495132.1

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 EXOC6

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
ENST000002607629465935594659401Frame-shift
ENST000002607629466918394669388Frame-shift
ENST000002607629469390094693947Frame-shift
ENST000002607629469406694694187Frame-shift
ENST000002607629470048394700581Frame-shift
ENST000002607629475723094757372Frame-shift
ENST000002607629465455094654598In-frame
ENST000002607629467551494675670In-frame
ENST000002607629467973894679807In-frame
ENST000002607629469557094695642In-frame
ENST000002607629473380994733989In-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
ENST000002607629465935594659401Frame-shift
ENST000002607629466918394669388Frame-shift
ENST000002607629469390094693947Frame-shift
ENST000002607629469406694694187Frame-shift
ENST000002607629470048394700581Frame-shift
ENST000002607629475723094757372Frame-shift
ENST000002607629465455094654598In-frame
ENST000002607629467551494675670In-frame
ENST000002607629467973894679807In-frame
ENST000002607629469557094695642In-frame
ENST000002607629473380994733989In-frame

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Infer the effects of exon skipping event on protein functional features for EXOC6

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
ENST000002607623581804946545509465459828833591107
ENST0000026076235818049467551494675670678833221273
ENST0000026076235818049467973894679807834902273296
ENST000002607623581804946955709469564211551226380404
ENST000002607623581804947338099473398917881967591651

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
ENST000002607623581804946545509465459828833591107
ENST0000026076235818049467551494675670678833221273
ENST0000026076235818049467973894679807834902273296
ENST000002607623581804946955709469564211551226380404
ENST000002607623581804947338099473398917881967591651

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
Q8TAG9911071804ChainID=PRO_0000118951;Note=Exocyst complex component 6
Q8TAG92212731804ChainID=PRO_0000118951;Note=Exocyst complex component 6
Q8TAG92732961804ChainID=PRO_0000118951;Note=Exocyst complex component 6
Q8TAG93804041804ChainID=PRO_0000118951;Note=Exocyst complex component 6
Q8TAG9380404396396Natural variantID=VAR_044522;Note=T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs1326331,PMID:15489334
Q8TAG95916511804ChainID=PRO_0000118951;Note=Exocyst complex component 6


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
Q8TAG9911071804ChainID=PRO_0000118951;Note=Exocyst complex component 6
Q8TAG92212731804ChainID=PRO_0000118951;Note=Exocyst complex component 6
Q8TAG92732961804ChainID=PRO_0000118951;Note=Exocyst complex component 6
Q8TAG93804041804ChainID=PRO_0000118951;Note=Exocyst complex component 6
Q8TAG9380404396396Natural variantID=VAR_044522;Note=T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs1326331,PMID:15489334
Q8TAG95916511804ChainID=PRO_0000118951;Note=Exocyst complex component 6


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SNVs in the skipped exons for EXOC6

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-A39Y-01exon_skip_43901
94757231947573729475732994757329Frame_Shift_DelG-p.M679fs
LIHCTCGA-BC-A112-01exon_skip_43883
94669184946693889466937894669379Frame_Shift_Ins-Ap.D213fs
COADTCGA-CK-5913-01exon_skip_43881
94654551946545989465457294654572Nonsense_MutationCTp.R94X
CESCTCGA-EK-A2PG-01exon_skip_43885
exon_skip_43884
94675515946756709467565694675656Nonsense_MutationGTp.E285*
STADTCGA-BR-4257-01exon_skip_43899
94733810947339899473380994733809Splice_SiteGT.
STADTCGA-BR-4257-01exon_skip_43899
94733810947339899473380994733809Splice_SiteGTp.D592_splice

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
HEC59_ENDOMETRIUM94669184946693889466919994669199Frame_Shift_DelA-p.L158fs
HCC1569_BREAST94669184946693889466919994669199Frame_Shift_DelA-p.L158fs
SALE_LUNG94733810947339899473396594733969Frame_Shift_DelCTTTC-p.FQ644fs
SET2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE94659356946594019465939194659391Missense_MutationACp.S150R
JHOS4_OVARY94669184946693889466918894669188Missense_MutationTCp.Y155H
P32ISH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE94669184946693889466929094669290Missense_MutationCTp.R189C
HOP92_LUNG94669184946693889466937794669377Missense_MutationGAp.A218T
TE617T_SOFT_TISSUE94675515946756709467558194675581Missense_MutationAGp.M244V
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE94675515946756709467559294675592Missense_MutationTAp.N247K
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE94675515946756709467562694675626Missense_MutationGAp.V259I
A427_LUNG94675515946756709467563094675630Missense_MutationTGp.L260W
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE94693901946939479469392894693928Missense_MutationTCp.Y334H
LCLC103H_LUNG94694067946941879469410894694108Missense_MutationGAp.G354E
NCIH1838_LUNG94694067946941879469414894694148Missense_MutationGTp.M367I
SNU175_LARGE_INTESTINE94694067946941879469414994694149Missense_MutationGAp.A368T
HS606T_FIBROBLAST94695571946956429469562994695629Missense_MutationCTp.A400V
SHP77_LUNG94733810947339899473393894733938Missense_MutationGAp.M634I
SNU1040_LARGE_INTESTINE94757231947573729475727694757276Missense_MutationTCp.S667P
RKO_LARGE_INTESTINE94757231947573729475732894757328Missense_MutationTCp.M684T
NCIH250_LUNG94757231947573729475734094757340Missense_MutationATp.Q688L
CW2_LARGE_INTESTINE94757231947573729475734994757349Missense_MutationAGp.N691S
JHUEM7_ENDOMETRIUM94757231947573729475735494757354Missense_MutationGTp.D693Y
JHUEM7_ENDOMETRIUM94669184946693889466930594669305Nonsense_MutationGTp.E194*
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE94700484947005819470050594700505Nonsense_MutationCTp.R412*
PACADD188_PANCREAS94659356946594019465940194659401Splice_SiteGAp.R153K
LNCAPCLONEFGC_PROSTATE94733810947339899473398894733988Splice_SiteCAp.P651H

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EXOC6

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 EXOC6


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EXOC6


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RelatedDrugs for EXOC6

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 EXOC6

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