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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 GSE1

check button Gene summary
Gene informationGene symbol

GSE1

Gene ID

23199

Gene nameGse1 coiled-coil protein
SynonymsCRHSP24|KIAA0182
Cytomap

16q24.1

Type of geneprotein-coding
Descriptiongenetic suppressor element 1CTC-786C10.1Gse1 coiled-coil protein homolog
Modification date20180519
UniProtAcc

Q14687

ContextPubMed: GSE1 [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 GSE1 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 GSE1

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 GSE1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1391971685646957:85647004:85667519:85667738:85682157:8568235785667519:85667738ENSG00000131149.13ENST00000253458.7
exon_skip_1392001685667519:85667738:85682157:85682357:85687883:8568805685682157:85682357ENSG00000131149.13ENST00000253458.7
exon_skip_1392031685690882:85691210:85694751:85695371:85696586:8569669985694751:85695371ENSG00000131149.13ENST00000393243.1,ENST00000253458.7,ENST00000405402.2,ENST00000412692.1
exon_skip_1392061685696991:85697220:85698620:85698734:85699581:8569961085698620:85698734ENSG00000131149.13ENST00000438180.1,ENST00000393243.1,ENST00000253458.7,ENST00000405402.2
exon_skip_1392081685696991:85697220:85699581:85699953:85701745:8570203085699581:85699953ENSG00000131149.13ENST00000469381.1,ENST00000412692.1
exon_skip_1392121685704600:85704704:85705787:85705915:85706010:8570610285705787:85705915ENSG00000131149.13ENST00000438180.1

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

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Exon skipping events with PSIs in GTEx for GSE1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1391971685646957:85647004:85667519:85667738:85682157:8568235785667519:85667738ENSG00000131149.13ENST00000253458.7
exon_skip_1392001685667519:85667738:85682157:85682357:85687883:8568805685682157:85682357ENSG00000131149.13ENST00000253458.7
exon_skip_1392031685690882:85691210:85694751:85695371:85696586:8569669985694751:85695371ENSG00000131149.13ENST00000405402.2,ENST00000253458.7,ENST00000393243.1,ENST00000412692.1
exon_skip_1392061685696991:85697220:85698620:85698734:85699581:8569961085698620:85698734ENSG00000131149.13ENST00000405402.2,ENST00000253458.7,ENST00000393243.1,ENST00000438180.1
exon_skip_1392081685696991:85697220:85699581:85699953:85701745:8570203085699581:85699953ENSG00000131149.13ENST00000412692.1,ENST00000469381.1
exon_skip_1392121685704600:85704704:85705787:85705915:85706010:8570610285705787:85705915ENSG00000131149.13ENST00000438180.1

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 GSE1

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
ENST000002534588568215785682357Frame-shift
ENST000002534588569475185695371Frame-shift
ENST000002534588566751985667738In-frame
ENST000002534588569862085698734In-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
ENST000002534588568215785682357Frame-shift
ENST000002534588569475185695371Frame-shift
ENST000002534588566751985667738In-frame
ENST000002534588569862085698734In-frame

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Infer the effects of exon skipping event on protein functional features for GSE1

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
ENST00000253458751212178566751985667738184402275
ENST0000025345875121217856986208569873428212934881919

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
ENST00000253458751212178566751985667738184402275
ENST0000025345875121217856986208569873428212934881919

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
Q146872751104Alternative sequenceID=VSP_021820;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q14687275375Alternative sequenceID=VSP_021821;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8724849;Dbxref=PMID:8724849
Q1468727511217ChainID=PRO_0000050730;Note=Genetic suppressor element 1
Q146872751010Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q1468788191911217ChainID=PRO_0000050730;Note=Genetic suppressor element 1
Q14687881919907907Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332
Q14687881919909909Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:1


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
Q146872751104Alternative sequenceID=VSP_021820;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q14687275375Alternative sequenceID=VSP_021821;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8724849;Dbxref=PMID:8724849
Q1468727511217ChainID=PRO_0000050730;Note=Genetic suppressor element 1
Q146872751010Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q1468788191911217ChainID=PRO_0000050730;Note=Genetic suppressor element 1
Q14687881919907907Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332
Q14687881919909909Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:1


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SNVs in the skipped exons for GSE1

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
UCSTCGA-N7-A4Y0-01exon_skip_139200
85682158856823578568226185682261Frame_Shift_DelC-p.V110fs
LGGTCGA-HT-7687-01exon_skip_139200
85682158856823578568229085682290Frame_Shift_DelC-p.T120fs
PCPGTCGA-QR-A7IP-01exon_skip_139200
85682158856823578568229085682290Frame_Shift_DelC-p.T120fs
THYMTCGA-4V-A9QX-01exon_skip_139200
85682158856823578568229085682290Frame_Shift_DelC-p.T120fs
LIHCTCGA-DD-A3A0-01exon_skip_139203
85694752856953718569501985695019Frame_Shift_DelG-p.E636fs
LIHCTCGA-DD-A1EG-01exon_skip_139203
85694752856953718569525185695251Frame_Shift_DelC-p.P715fs
LIHCTCGA-DD-A39Y-01exon_skip_139203
85694752856953718569525185695251Frame_Shift_DelC-p.P715fs
THYMTCGA-4X-A9F9-01exon_skip_139203
85694752856953718569525185695251Frame_Shift_DelC-p.P715fs
LIHCTCGA-G3-A3CJ-01exon_skip_139208
85699582856999538569982285699822Frame_Shift_DelT-p.I1000fs
CESCTCGA-EA-A3HU-01exon_skip_139200
85682158856823578568228985682290Frame_Shift_Ins-Cp.V123fs
ESCATCGA-L5-A8NQ-01exon_skip_139200
85682158856823578568228985682290Frame_Shift_Ins-Cp.V123fs
LGGTCGA-HT-A74K-01exon_skip_139200
85682158856823578568228985682290Frame_Shift_Ins-Cp.P120fs
STADTCGA-CD-A4MJ-01exon_skip_139200
85682158856823578568228985682290Frame_Shift_Ins-CCp.T120fs
THCATCGA-CE-A27D-01exon_skip_139200
85682158856823578568228985682290Frame_Shift_Ins-Cp.P120fs
SARCTCGA-SG-A6Z4-01exon_skip_139203
85694752856953718569491285694912Nonsense_MutationGTp.E601*
LIHCTCGA-DD-AAD1-01exon_skip_139208
85699582856999538569991285699912Nonsense_MutationCGp.S1030X

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
AN3CA_ENDOMETRIUM85682158856823578568228985682290Frame_Shift_Ins-CCp.T120fs
SNU407_LARGE_INTESTINE85682158856823578568228985682290Frame_Shift_Ins-CCp.T120fs
22RV1_PROSTATE85682158856823578568228985682290Frame_Shift_Ins-CCp.T120fs
SNU324_PANCREAS85682158856823578568228985682290Frame_Shift_Ins-CCp.T120fs
639V_URINARY_TRACT85667520856677388566753485667534Missense_MutationCTp.P8S
BICR18_UPPER_AERODIGESTIVE_TRACT85667520856677388566754885667549Missense_MutationGCCAp.L13I
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE85667520856677388566754885667549Missense_MutationGCCAp.L13I
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE85667520856677388566754885667549Missense_MutationGCCAp.L13I
BICR18_UPPER_AERODIGESTIVE_TRACT85667520856677388566754985667549Missense_MutationCAp.L13I
MFE296_ENDOMETRIUM85667520856677388566756785667567Missense_MutationGAp.A19T
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE85667520856677388566764585667645Missense_MutationGAp.A45T
HEC6_ENDOMETRIUM85682158856823578568222085682220Missense_MutationGAp.A97T
HDQP1_BREAST85682158856823578568222085682220Missense_MutationGAp.A97T
JEG3_PLACENTA85682158856823578568222085682220Missense_MutationGAp.A97T
KYSE270_OESOPHAGUS85682158856823578568223685682236Missense_MutationGTp.R102L
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE85682158856823578568226685682266Missense_MutationCTp.P112L
HEC1A_ENDOMETRIUM85682158856823578568232585682325Missense_MutationGAp.V132M
HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE85694752856953718569480785694807Missense_MutationGTp.G566W
SKMEL3_SKIN85694752856953718569483585694835Missense_MutationCAp.P575H
RKO_LARGE_INTESTINE85694752856953718569487785694877Missense_MutationCTp.S589F
CPCN_LUNG85694752856953718569489785694897Missense_MutationGCp.E596Q
FTC238_THYROID85694752856953718569490185694901Missense_MutationCTp.T597M
SNUC2A_LARGE_INTESTINE85694752856953718569496985694969Missense_MutationGAp.V620M
SNUC2B_LARGE_INTESTINE85694752856953718569496985694969Missense_MutationGAp.V620M
COLO783_SKIN85694752856953718569498385694984Missense_MutationGGAAp.V625M
DMS114_LUNG85694752856953718569498485694984Missense_MutationGAp.V625M
COLO783_SKIN85694752856953718569498485694984Missense_MutationGAp.V625M
LIM1215_LARGE_INTESTINE85694752856953718569510685695106Missense_MutationGCp.Q665H
NCIH1435_LUNG85694752856953718569514385695143Missense_MutationCAp.L678I
NCIH1781_LUNG85694752856953718569514685695146Missense_MutationGAp.E679K
LS180_LARGE_INTESTINE85694752856953718569517085695170Missense_MutationGTp.G687C
DV90_LUNG85694752856953718569523285695232Missense_MutationGTp.K707N
SKMEL2_SKIN85694752856953718569525585695255Missense_MutationCTp.P715L
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE85694752856953718569526685695266Missense_MutationGAp.A719T
TTC642_SOFT_TISSUE85694752856953718569529985695299Missense_MutationCGp.L730V
EN_ENDOMETRIUM85694752856953718569531185695311Missense_MutationCTp.R734W
OCIMY5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE85694752856953718569535685695356Missense_MutationGAp.E749K
P32ISH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE85698621856987348569864785698647Missense_MutationCTp.R891C
SKNO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE85698621856987348569869085698690Missense_MutationCGp.S905C
MCAS_OVARY85698621856987348569871485698714Missense_MutationGAp.S913N
SISO_CERVIX85699582856999538569959185699591Missense_MutationCTp.T923M
MDAPCA2B_PROSTATE85699582856999538569966385699663Missense_MutationCTp.A947V
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE85699582856999538569980985699809Missense_MutationGAp.A996T
HS616T_FIBROBLAST85699582856999538569982185699821Missense_MutationAGp.I1000V
NEC8_TESTIS85699582856999538569985885699858Missense_MutationGTp.S1012I
HEC108_ENDOMETRIUM85682158856823578568235585682355Nonsense_MutationCTp.Q142*
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE85694752856953718569500185695001Nonsense_MutationCAp.C630*
RERFLCFM_LUNG85667520856677388566752185667521Splice_SiteCGp.G3G

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GSE1

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 GSE1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GSE1


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RelatedDrugs for GSE1

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 GSE1

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