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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 CUL7

check button Gene summary
Gene informationGene symbol

CUL7

Gene ID

9820

Gene namecullin 7
Synonyms3M1|CUL-7|KIAA0076|dJ20C7.5
Cytomap

6p21.1

Type of geneprotein-coding
Descriptioncullin-7
Modification date20180519
UniProtAcc

Q14999

ContextPubMed: CUL7 [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
CUL7

GO:0001837

epithelial to mesenchymal transition

20139075

CUL7

GO:0001890

placenta development

20139075

CUL7

GO:0016567

protein ubiquitination

18498745


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Exon skipping events across known transcript of Ensembl for CUL7 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 CUL7

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 CUL7

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_459636643006004:43006210:43006303:43006430:43006579:4300672543006303:43006430ENSG00000044090.4ENST00000535468.1,ENST00000265348.3
exon_skip_459642643006579:43006725:43007893:43008164:43008267:4300848443007893:43008164ENSG00000044090.4ENST00000535468.1,ENST00000265348.3
exon_skip_459644643008652:43008813:43010539:43010722:43010811:4301091843010539:43010722ENSG00000044090.4ENST00000535468.1,ENST00000265348.3
exon_skip_459647643010811:43010918:43011185:43011368:43012489:4301262343011185:43011368ENSG00000044090.4ENST00000535468.1,ENST00000265348.3
exon_skip_459651643012489:43012623:43012964:43013140:43013324:4301342043012964:43013140ENSG00000044090.4ENST00000535468.1,ENST00000265348.3
exon_skip_459653643013973:43014145:43014248:43014339:43014617:4301484543014248:43014339ENSG00000044090.4ENST00000478630.1,ENST00000535468.1,ENST00000265348.3
exon_skip_459659643014617:43014845:43015684:43015727:43015885:4301589843015684:43015727ENSG00000044090.4ENST00000478630.1
exon_skip_459660643014617:43014845:43015885:43015991:43016069:4301630743015885:43015991ENSG00000044090.4ENST00000535468.1,ENST00000265348.3
exon_skip_459662643017700:43017897:43017997:43018136:43018705:4301920643017997:43018136ENSG00000044090.4ENST00000535468.1,ENST00000265348.3

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

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Exon skipping events with PSIs in GTEx for CUL7

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_459636643006004:43006210:43006303:43006430:43006579:4300672543006303:43006430ENSG00000044090.4ENST00000265348.3,ENST00000535468.1
exon_skip_459642643006579:43006725:43007893:43008164:43008267:4300848443007893:43008164ENSG00000044090.4ENST00000265348.3,ENST00000535468.1
exon_skip_459644643008652:43008813:43010539:43010722:43010811:4301091843010539:43010722ENSG00000044090.4ENST00000265348.3,ENST00000535468.1
exon_skip_459647643010811:43010918:43011185:43011368:43012489:4301262343011185:43011368ENSG00000044090.4ENST00000265348.3,ENST00000535468.1
exon_skip_459651643012489:43012623:43012964:43013140:43013324:4301342043012964:43013140ENSG00000044090.4ENST00000265348.3,ENST00000535468.1
exon_skip_459653643013973:43014145:43014248:43014339:43014617:4301484543014248:43014339ENSG00000044090.4ENST00000265348.3,ENST00000535468.1,ENST00000478630.1
exon_skip_459659643014617:43014845:43015684:43015727:43015885:4301589843015684:43015727ENSG00000044090.4ENST00000478630.1
exon_skip_459660643014617:43014845:43015885:43015991:43016069:4301630743015885:43015991ENSG00000044090.4ENST00000265348.3,ENST00000535468.1
exon_skip_459662643017700:43017897:43017997:43018136:43018705:4301920643017997:43018136ENSG00000044090.4ENST00000265348.3,ENST00000535468.1

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 CUL7

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
ENST000002653484300630343006430Frame-shift
ENST000002653484300789343008164Frame-shift
ENST000002653484301296443013140Frame-shift
ENST000002653484301424843014339Frame-shift
ENST000002653484301588543015991Frame-shift
ENST000002653484301799743018136Frame-shift
ENST000002653484301053943010722In-frame
ENST000002653484301118543011368In-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
ENST000002653484300630343006430Frame-shift
ENST000002653484300789343008164Frame-shift
ENST000002653484301296443013140Frame-shift
ENST000002653484301424843014339Frame-shift
ENST000002653484301588543015991Frame-shift
ENST000002653484301799743018136Frame-shift
ENST000002653484301053943010722In-frame
ENST000002653484301118543011368In-frame

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Infer the effects of exon skipping event on protein functional features for CUL7

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
ENST000002653485271169843011185430113683259344110571118
ENST000002653485271169843010539430107223549373111541215

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
ENST000002653485271169843011185430113683259344110571118
ENST000002653485271169843010539430107223549373111541215

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
Q149991057111811698ChainID=PRO_0000119802;Note=Cullin-7
Q149991154121511698ChainID=PRO_0000119802;Note=Cullin-7


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
Q149991057111811698ChainID=PRO_0000119802;Note=Cullin-7
Q149991154121511698ChainID=PRO_0000119802;Note=Cullin-7


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SNVs in the skipped exons for CUL7

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
SARCTCGA-IW-A3M5-01exon_skip_459636
43006304430064304300638243006385Frame_Shift_DelTGTC-p.D1580fs
SARCTCGA-IW-A3M5-01exon_skip_459636
43006304430064304300638243006385Frame_Shift_DelTGTC-p.DM1580fs
LIHCTCGA-DD-A39Y-01exon_skip_459642
43007894430081644300792343007923Frame_Shift_DelA-p.L1506fs
LIHCTCGA-DD-A39Y-01exon_skip_459642
43007894430081644300795843007958Frame_Shift_DelG-p.P1494fs
LUADTCGA-55-8506-01exon_skip_459647
43011186430113684301124743011250Frame_Shift_DelGTGA-p.TH1181fs
LIHCTCGA-DD-A1EG-01exon_skip_459651
43012965430131404301311443013114Frame_Shift_DelC-p.G1047fs
LIHCTCGA-G3-A3CJ-01exon_skip_459651
43012965430131404301311443013114Frame_Shift_DelC-p.G1047fs
LIHCTCGA-DD-A3A0-01exon_skip_459660
43015886430159914301590243015902Frame_Shift_DelG-p.P802fs
LIHCTCGA-DD-A39Y-01exon_skip_459660
43015886430159914301591243015912Frame_Shift_DelG-p.L799fs
STADTCGA-BR-A4QL-01exon_skip_459662
43017998430181364301813043018130Frame_Shift_DelA-p.W414fs
STADTCGA-BR-A4QL-01exon_skip_459662
43017998430181364301813043018130Frame_Shift_DelA-p.W498fs
SKCMTCGA-BF-A3DM-01exon_skip_459653
43014249430143394301425243014252Nonsense_MutationGAp.Q829X
SKCMTCGA-BF-A3DM-01exon_skip_459653
43014249430143394301425243014252Nonsense_MutationGAp.Q913*
BRCATCGA-BH-A0DZ-01exon_skip_459644
43010540430107224301072443010724Splice_SiteTGe18-2
COADTCGA-AD-5900-01exon_skip_459660
43015886430159914301599343015993Splice_SiteTC.

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
EW11_BONE43006304430064304300641943006420Frame_Shift_DelCA-p.V1484fs
SKUT1_SOFT_TISSUE43006304430064304300632543006325Missense_MutationCTp.E1516K
HCC1806_BREAST43006304430064304300632543006325Missense_MutationCTp.E1516K
DAOY_CENTRAL_NERVOUS_SYSTEM43006304430064304300641443006414Missense_MutationCAp.S1486I
LS411N_LARGE_INTESTINE43007894430081644300790643007906Missense_MutationAGp.F1428L
NCIH1155_LUNG43007894430081644300802843008028Missense_MutationGAp.P1387L
HSC1_SKIN43007894430081644300811943008119Missense_MutationCTp.E1357K
KE39_STOMACH43007894430081644300811943008119Missense_MutationCTp.E1357K
LMSU_STOMACH43007894430081644300811943008119Missense_MutationCTp.E1357K
HEC1A_ENDOMETRIUM43007894430081644300811943008119Missense_MutationCTp.E1357K
LU99_LUNG43007894430081644300811943008119Missense_MutationCTp.E1357K
HEC1_ENDOMETRIUM43007894430081644300811943008119Missense_MutationCTp.E1357K
HEC1B_ENDOMETRIUM43007894430081644300811943008119Missense_MutationCTp.E1357K
KMS18_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE43007894430081644300811943008119Missense_MutationCTp.E1357K
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE43010540430107224301054243010542Missense_MutationGAp.H1215Y
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE43010540430107224301067443010674Missense_MutationGAp.R1171C
SNU1040_LARGE_INTESTINE43011186430113684301119443011194Missense_MutationGTp.P1116H
TOV21G_OVARY43011186430113684301126643011266Missense_MutationCTp.R1092Q
RS5_FIBROBLAST43011186430113684301126743011267Missense_MutationGAp.R1092W
RCCFG2_KIDNEY43011186430113684301126743011267Missense_MutationGAp.R1092W
HEC108_ENDOMETRIUM43011186430113684301132343011323Missense_MutationAGp.L1073P
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE43012965430131404301299243012992Missense_MutationCTp.R1004H
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE43012965430131404301299743012997Missense_MutationCAp.E1002D
KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE43012965430131404301312243013122Missense_MutationTAp.I961F
EN_ENDOMETRIUM43015886430159914301593843015938Missense_MutationTCp.E706G
SAOS2_BONE43017998430181364301810443018104Missense_MutationCGp.W422C
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE43006304430064304300637343006373Nonsense_MutationGAp.Q1500*
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE43007894430081644300811943008119Nonsense_MutationCAp.E1357*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CUL7

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_459659643014617:43014845:43015684:43015727:43015885:4301589843015684:43015727ENST00000478630.1SARCrs1079325chr6:43015706G/A5.42e-05

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CUL7


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CUL7


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RelatedDrugs for CUL7

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 CUL7

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
CUL7C2678312Three M Syndrome 12UNIPROT
CUL7C0004352Autistic Disorder1CTD_human
CUL7C0007134Renal Cell Carcinoma1CTD_human