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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 GCSAM

check button Gene summary
Gene informationGene symbol

GCSAM

Gene ID

257144

Gene namegerminal center associated signaling and motility
SynonymsGCAT2|GCET2|HGAL
Cytomap

3q13.2

Type of geneprotein-coding
Descriptiongerminal center-associated signaling and motility proteingerminal center B-cell-expressed transcript 2 proteingerminal center expressed transcript 2germinal center-associated lymphoma proteinhuman germinal center-associated lymphoma
Modification date20180519
UniProtAcc

Q8N6F7

ContextPubMed: GCSAM [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 GCSAM 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 GCSAM

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 GCSAM

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3864713111842453:111842619:111844072:111844101:111845833:111845880111844072:111844101ENSG00000174500.8ENST00000487901.1,ENST00000460387.2,ENST00000470085.1,ENST00000488580.1,ENST00000484193.1,ENST00000308910.4
exon_skip_3864733111845833:111845880:111846863:111846908:111849291:111849360111846863:111846908ENSG00000174500.8ENST00000487901.1,ENST00000488580.1,ENST00000484193.1,ENST00000308910.4
exon_skip_3864753111845833:111845880:111846863:111847075:111849291:111849360111846863:111847075ENSG00000174500.8ENST00000470085.1,ENST00000495418.1
exon_skip_3864773111846863:111846908:111849291:111849366:111851938:111852013111849291:111849366ENSG00000174500.8ENST00000484193.1
exon_skip_3864793111846863:111847075:111849291:111849360:111851938:111852013111849291:111849360ENSG00000174500.8ENST00000470085.1,ENST00000495418.1
exon_skip_3864823111849291:111849360:111851483:111851757:111851938:111852013111851483:111851757ENSG00000174500.8ENST00000487901.1
exon_skip_3864833111849291:111849366:111851483:111851757:111851938:111852013111851483:111851757ENSG00000174500.8ENST00000488580.1

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

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Exon skipping events with PSIs in GTEx for GCSAM

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3864713111842453:111842619:111844072:111844101:111845833:111845880111844072:111844101ENSG00000174500.8ENST00000308910.4,ENST00000484193.1,ENST00000470085.1,ENST00000460387.2,ENST00000488580.1,ENST00000487901.1
exon_skip_3864733111845833:111845880:111846863:111846908:111849291:111849360111846863:111846908ENSG00000174500.8ENST00000308910.4,ENST00000484193.1,ENST00000488580.1,ENST00000487901.1
exon_skip_3864753111845833:111845880:111846863:111847075:111849291:111849360111846863:111847075ENSG00000174500.8ENST00000470085.1,ENST00000495418.1
exon_skip_3864773111846863:111846908:111849291:111849366:111851938:111852013111849291:111849366ENSG00000174500.8ENST00000484193.1
exon_skip_3864793111846863:111847075:111849291:111849360:111851938:111852013111849291:111849360ENSG00000174500.8ENST00000470085.1,ENST00000495418.1
exon_skip_3864823111849291:111849360:111851483:111851757:111851938:111852013111851483:111851757ENSG00000174500.8ENST00000487901.1
exon_skip_3864833111849291:111849366:111851483:111851757:111851938:111852013111851483:111851757ENSG00000174500.8ENST00000488580.1

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 GCSAM

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

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

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

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

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

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 GCSAM

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.
GCSAM_DLBC_exon_skip_386471_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
KIRPTCGA-Y8-A8RZ-01exon_skip_386479
111849292111849360111849299111849306Frame_Shift_DelTTCTCTGT-p.31_33del
KIRPTCGA-Y8-A8RZ-01exon_skip_386477
111849292111849366111849299111849306Frame_Shift_DelTTCTCTGT-p.31_33del
LIHCTCGA-DD-A3A0-01exon_skip_386479
111849292111849360111849332111849332Frame_Shift_DelA-p.W20fs
LIHCTCGA-DD-A3A0-01exon_skip_386477
111849292111849366111849332111849332Frame_Shift_DelA-p.W20fs
DLBCTCGA-G8-6909-01exon_skip_386471
111844073111844101111844089111844089Nonsense_MutationGTp.S70X

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
GCSAM_111842453_111842619_111844072_111844101_111845833_111845880_TCGA-G8-6909-01Sample: TCGA-G8-6909-01
Cancer type: DLBC
ESID: exon_skip_386471
Skipped exon start: 111844073
Skipped exon end: 111844101
Mutation start: 111844089
Mutation end: 111844089
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: T
AAchange: p.S70X
exon_skip_386471_DLBC_TCGA-G8-6909-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
HCC2450_LUNG111844073111844101111844086111844086Missense_MutationGCp.S69C
F36P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE111846864111847075111846879111846879Missense_MutationCTp.C43Y
F36P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE111846864111846908111846879111846879Missense_MutationCTp.C43Y
T3M10_LUNG111846864111847075111846879111846879Missense_MutationCTp.C43Y
T3M10_LUNG111846864111846908111846879111846879Missense_MutationCTp.C43Y
LU134A_LUNG111846864111847075111846879111846879Missense_MutationCTp.C43Y
LU134A_LUNG111846864111846908111846879111846879Missense_MutationCTp.C43Y
HCET_UPPER_AERODIGESTIVE_TRACT111846864111847075111846879111846879Missense_MutationCTp.C43Y
HCET_UPPER_AERODIGESTIVE_TRACT111846864111846908111846879111846879Missense_MutationCTp.C43Y
OC316_OVARY111846864111847075111846902111846902Missense_MutationCAp.W35C
OC316_OVARY111846864111846908111846902111846902Missense_MutationCAp.W35C
OC314_OVARY111846864111847075111846902111846902Missense_MutationCAp.W35C
OC314_OVARY111846864111846908111846902111846902Missense_MutationCAp.W35C
NCIH2126_LUNG111849292111849360111849303111849303Missense_MutationCAp.Q29H
NCIH2126_LUNG111849292111849366111849303111849303Missense_MutationCAp.Q29H

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

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 GCSAM


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


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RelatedDrugs for GCSAM

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 GCSAM

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