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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 GREB1

check button Gene summary
Gene informationGene symbol

GREB1

Gene ID

9687

Gene namegrowth regulating estrogen receptor binding 1
Synonyms-
Cytomap

2p25.1

Type of geneprotein-coding
Descriptionprotein GREB1gene regulated by estrogen in breast cancergene regulated in breast cancer 1 proteingrowth regulation by estrogen in breast cancer 1
Modification date20180522
UniProtAcc

Q4ZG55

ContextPubMed: GREB1 [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 GREB1 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 GREB1

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 GREB1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_323531211679968:11680234:11696579:11696897:11702588:1170270811696579:11696897ENSG00000196208.9ENST00000263834.5
exon_skip_323539211682850:11682943:11696582:11696897:11702588:1170270811696582:11696897ENSG00000196208.9ENST00000381483.2
exon_skip_323544211696743:11696897:11702588:11702708:11706605:1170678211702588:11702708ENSG00000196208.9ENST00000381483.2,ENST00000263834.5,ENST00000381486.2,ENST00000234142.5
exon_skip_323547211702588:11702708:11706605:11706782:11716478:1171666111706605:11706782ENSG00000196208.9ENST00000381483.2,ENST00000263834.5,ENST00000381486.2,ENST00000234142.5,ENST00000389825.3
exon_skip_323549211706605:11706782:11716478:11716661:11718422:1171855711716478:11716661ENSG00000196208.9ENST00000381483.2,ENST00000263834.5,ENST00000381486.2,ENST00000234142.5,ENST00000389825.3
exon_skip_323555211740928:11741121:11742531:11742668:11750813:1175086811742531:11742668ENSG00000196208.9ENST00000432985.1,ENST00000381486.2,ENST00000234142.5
exon_skip_323559211758413:11759045:11761030:11761133:11765279:1176543811761030:11761133ENSG00000196208.9ENST00000381486.2,ENST00000234142.5,ENST00000396123.1
exon_skip_323564211761030:11761133:11765279:11765438:11767087:1176723011765279:11765438ENSG00000196208.9ENST00000381486.2,ENST00000234142.5,ENST00000396123.1
exon_skip_323572211767091:11767230:11770073:11770235:11772034:1177223911770073:11770235ENSG00000196208.9ENST00000381486.2,ENST00000234142.5,ENST00000396123.1
exon_skip_323574211770122:11770235:11772034:11772239:11773014:1177318911772034:11772239ENSG00000196208.9ENST00000381486.2,ENST00000234142.5,ENST00000396123.1
exon_skip_323576211773014:11773189:11774256:11774475:11775395:1177553111774256:11774475ENSG00000196208.9ENST00000381486.2,ENST00000234142.5,ENST00000396123.1
exon_skip_323577211777841:11778042:11778796:11778935:11780416:1178248911778796:11778935ENSG00000196208.9ENST00000381486.2,ENST00000234142.5,ENST00000396123.1

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

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Exon skipping events with PSIs in GTEx for GREB1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_323531211679968:11680234:11696579:11696897:11702588:1170270811696579:11696897ENSG00000196208.9ENST00000263834.5
exon_skip_323539211682850:11682943:11696582:11696897:11702588:1170270811696582:11696897ENSG00000196208.9ENST00000381483.2
exon_skip_323544211696743:11696897:11702588:11702708:11706605:1170678211702588:11702708ENSG00000196208.9ENST00000381486.2,ENST00000263834.5,ENST00000381483.2,ENST00000234142.5
exon_skip_323547211702588:11702708:11706605:11706782:11716478:1171666111706605:11706782ENSG00000196208.9ENST00000381486.2,ENST00000263834.5,ENST00000389825.3,ENST00000381483.2,ENST00000234142.5
exon_skip_323549211706605:11706782:11716478:11716661:11718422:1171855711716478:11716661ENSG00000196208.9ENST00000381486.2,ENST00000263834.5,ENST00000389825.3,ENST00000381483.2,ENST00000234142.5
exon_skip_323559211758413:11759045:11761030:11761133:11765279:1176543811761030:11761133ENSG00000196208.9ENST00000381486.2,ENST00000234142.5,ENST00000396123.1
exon_skip_323564211761030:11761133:11765279:11765438:11767087:1176723011765279:11765438ENSG00000196208.9ENST00000381486.2,ENST00000234142.5,ENST00000396123.1
exon_skip_323572211767091:11767230:11770073:11770235:11772034:1177223911770073:11770235ENSG00000196208.9ENST00000381486.2,ENST00000234142.5,ENST00000396123.1
exon_skip_323574211770122:11770235:11772034:11772239:11773014:1177318911772034:11772239ENSG00000196208.9ENST00000381486.2,ENST00000234142.5,ENST00000396123.1
exon_skip_323576211773014:11773189:11774256:11774475:11775395:1177553111774256:11774475ENSG00000196208.9ENST00000381486.2,ENST00000234142.5,ENST00000396123.1
exon_skip_323577211777841:11778042:11778796:11778935:11780416:1178248911778796:11778935ENSG00000196208.9ENST00000381486.2,ENST00000234142.5,ENST00000396123.1

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 GREB1

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
ENST000002341421174253111742668Frame-shift
ENST000003814861174253111742668Frame-shift
ENST000002341421176103011761133Frame-shift
ENST000003814861176103011761133Frame-shift
ENST000002341421177203411772239Frame-shift
ENST000003814861177203411772239Frame-shift
ENST000002341421177879611778935Frame-shift
ENST000003814861177879611778935Frame-shift
ENST000002341421170258811702708In-frame
ENST000003814861170258811702708In-frame
ENST000002341421170660511706782In-frame
ENST000003814861170660511706782In-frame
ENST000002341421171647811716661In-frame
ENST000003814861171647811716661In-frame
ENST000002341421176527911765438In-frame
ENST000003814861176527911765438In-frame
ENST000002341421177007311770235In-frame
ENST000003814861177007311770235In-frame
ENST000002341421177425611774475In-frame
ENST000003814861177425611774475In-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
ENST000002341421176103011761133Frame-shift
ENST000003814861176103011761133Frame-shift
ENST000002341421177203411772239Frame-shift
ENST000003814861177203411772239Frame-shift
ENST000002341421177879611778935Frame-shift
ENST000003814861177879611778935Frame-shift
ENST000002341421170258811702708In-frame
ENST000003814861170258811702708In-frame
ENST000002341421170660511706782In-frame
ENST000003814861170660511706782In-frame
ENST000002341421171647811716661In-frame
ENST000003814861171647811716661In-frame
ENST000002341421176527911765438In-frame
ENST000003814861176527911765438In-frame
ENST000002341421177007311770235In-frame
ENST000003814861177007311770235In-frame
ENST000002341421177425611774475In-frame
ENST000003814861177425611774475In-frame

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Infer the effects of exon skipping event on protein functional features for GREB1

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
ENST000002341428461194911702588117027084205395292
ENST000003814868501194911702588117027084585775292
ENST0000023414284611949117066051170678254071692151
ENST0000038148685011949117066051170678257875492151
ENST00000234142846119491171647811716661717899151212
ENST00000381486850119491171647811716661755937151212
ENST000002341428461194911765279117654384410456813821435
ENST000003814868501194911765279117654384448460613821435
ENST000002341428461194911770073117702354712487314831537
ENST000003814868501194911770073117702354750491114831537
ENST000002341428461194911774256117744755254547216641736
ENST000003814868501194911774256117744755292551016641736

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
ENST000002341428461194911702588117027084205395292
ENST000003814868501194911702588117027084585775292
ENST0000023414284611949117066051170678254071692151
ENST0000038148685011949117066051170678257875492151
ENST00000234142846119491171647811716661717899151212
ENST00000381486850119491171647811716661755937151212
ENST000002341428461194911765279117654384410456813821435
ENST000003814868501194911765279117654384448460613821435
ENST000002341428461194911770073117702354712487314831537
ENST000003814868501194911770073117702354750491114831537
ENST000002341428461194911774256117744755254547216641736
ENST000003814868501194911774256117744755292551016641736

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 GREB1

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-A1EG-01exon_skip_323544
11702589117027081170265311702653Frame_Shift_DelC-p.G74fs
LIHCTCGA-DD-A3A0-01exon_skip_323544
11702589117027081170265311702653Frame_Shift_DelC-p.G74fs
KIRPTCGA-G7-6790-01exon_skip_323547
11706606117067821170668811706688Frame_Shift_DelG-p.V120fs
STADTCGA-HU-A4H8-01exon_skip_323547
11706606117067821170669911706699Frame_Shift_DelC-p.S124fs
LIHCTCGA-G3-A3CJ-01exon_skip_323555
11742532117426681174261211742612Frame_Shift_DelC-p.L870fs
LIHCTCGA-DD-A39Y-01exon_skip_323574
11772035117722391177207711772077Frame_Shift_DelG-p.G1552fs
LIHCTCGA-G3-A3CJ-01exon_skip_323574
11772035117722391177213311772133Frame_Shift_DelT-p.H1570fs
LIHCTCGA-G3-A3CJ-01exon_skip_323574
11772035117722391177221111772211Frame_Shift_DelC-p.L1596fs
LGGTCGA-S9-A7J1-01exon_skip_323577
11778797117789351177883211778833Frame_Shift_DelTT-p.SL1861fs
LIHCTCGA-DD-A39Y-01exon_skip_323577
11778797117789351177889211778892Frame_Shift_DelT-p.S1881fs
LIHCTCGA-DD-A1EG-01exon_skip_323577
11778797117789351177890811778908Frame_Shift_DelT-p.F1887fs
LIHCTCGA-DD-A1EG-01exon_skip_323577
11778797117789351177892511778925Frame_Shift_DelT-p.H1892fs
BLCATCGA-ZF-A9R4-01exon_skip_323564
11765280117654381176535911765360Frame_Shift_Ins-Ap.F1410fs
COADTCGA-AA-3542-01exon_skip_323531
exon_skip_323539
11696580116968971169675511696755Nonsense_MutationCAp.Y5X
COADTCGA-AA-3542-01exon_skip_323531
exon_skip_323539
11696583116968971169675511696755Nonsense_MutationCAp.Y5X
COADTCGA-A6-6141-01exon_skip_323559
11761031117611331176109711761097Nonsense_MutationGTp.E1371X
ESCATCGA-IG-A97H-01exon_skip_323559
11761031117611331176109711761097Nonsense_MutationGTp.E1371*
ESCATCGA-IG-A97H-01exon_skip_323559
11761031117611331176109711761097Nonsense_MutationGTp.E1371X
COADTCGA-CA-6717-01exon_skip_323564
11765280117654381176528811765288Nonsense_MutationGTp.E1386X
STADTCGA-BR-6452-01exon_skip_323564
11765280117654381176530211765302Nonsense_MutationGAp.W1390*
STADTCGA-BR-6452-01exon_skip_323564
11765280117654381176530211765302Nonsense_MutationGAp.W1390X
UCECTCGA-B5-A11E-01exon_skip_323572
11770074117702351177021211770212Nonsense_MutationCTp.R1530*

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
LOVO_LARGE_INTESTINE11702589117027081170265311702653Frame_Shift_DelC-p.G74fs
SBC5_LUNG11696580116968971169677511696775Missense_MutationCTp.T12I
SBC5_LUNG11696583116968971169677511696775Missense_MutationCTp.T12I
A172_CENTRAL_NERVOUS_SYSTEM11696580116968971169679411696794Missense_MutationGTp.L18F
A172_CENTRAL_NERVOUS_SYSTEM11696583116968971169679411696794Missense_MutationGTp.L18F
HEC108_ENDOMETRIUM11706606117067821170662011706620Missense_MutationGAp.G98R
DU145_PROSTATE11706606117067821170662011706620Missense_MutationGCp.G98R
HCC1419_BREAST11706606117067821170670811706708Missense_MutationTCp.L127P
TUHR4TKB_KIDNEY11706606117067821170677711706777Missense_MutationTCp.L150P
SNU878_LIVER11716479117166611171651511716515Missense_MutationGTp.G164V
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE11716479117166611171660811716608Missense_MutationGAp.R195H
HEC1A_ENDOMETRIUM11716479117166611171660811716608Missense_MutationGAp.R195H
HEC1_ENDOMETRIUM11716479117166611171660811716608Missense_MutationGAp.R195H
DMS79_LUNG11716479117166611171663811716638Missense_MutationCGp.P205R
GP2D_LARGE_INTESTINE11742532117426681174253511742535Missense_MutationGAp.V845M
KYSE140_OESOPHAGUS11742532117426681174262811742628Missense_MutationGAp.D876N
HT1376_URINARY_TRACT11742532117426681174262811742628Missense_MutationGCp.D876H
OCILY132_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE11761031117611331176107411761074Missense_MutationCAp.S1363Y
SNU81_LARGE_INTESTINE11765280117654381176535011765350Missense_MutationGTp.K1406N
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE11770074117702351177013111770131Missense_MutationAGp.I1503V
CORL303_LUNG11770074117702351177014611770146Missense_MutationAGp.I1508V
COLO684_ENDOMETRIUM11770074117702351177021611770216Missense_MutationTCp.L1531P
EPLC272H_LUNG11772035117722391177207711772077Missense_MutationGAp.G1552S
SW1116_LARGE_INTESTINE11772035117722391177212211772122Missense_MutationGAp.G1567S
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE11774257117744751177436411774364Missense_MutationCTp.S1700F
NCIH520_LUNG11774257117744751177438311774383Missense_MutationCGp.S1706R
SNUC4_LARGE_INTESTINE11765280117654381176530211765302Nonsense_MutationGAp.W1390*
DU145_PROSTATE11770074117702351177016111770161Nonsense_MutationATp.K1513*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GREB1

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_323531211679968:11680234:11696579:11696897:11702588:1170270811696579:11696897ENST00000263834.5UCECrs79864132chr2:11696637G/A1.23e-04
exon_skip_323539211682850:11682943:11696582:11696897:11702588:1170270811696582:11696897ENST00000381483.2UCECrs79864132chr2:11696637G/A1.23e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GREB1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GREB1


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RelatedDrugs for GREB1

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 GREB1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
GREB1C0014175Endometriosis1CTD_human
GREB1C0033578Prostatic Neoplasms1CTD_human