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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 TMEM245

check button Gene summary
Gene informationGene symbol

TMEM245

Gene ID

23731

Gene nametransmembrane protein 245
SynonymsC9orf5|CG-2|CG2
Cytomap

9q31.3

Type of geneprotein-coding
Descriptiontransmembrane protein 245protein CG-2transmembrane protein C9orf5
Modification date20180519
UniProtAcc

Q9H330

ContextPubMed: TMEM245 [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 TMEM245 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 TMEM245

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 TMEM245

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_5055519111782367:111782785:111795586:111795781:111798485:111798660111795586:111795781ENSG00000106771.8ENST00000374586.3,ENST00000472207.1,ENST00000491854.1,ENST00000413712.2
exon_skip_5055539111798485:111798660:111800296:111800397:111812562:111812708111800296:111800397ENSG00000106771.8ENST00000374586.3,ENST00000491854.1,ENST00000413712.2
exon_skip_5055549111812849:111812972:111819470:111819602:111822633:111822732111819470:111819602ENSG00000106771.8ENST00000374586.3,ENST00000491854.1,ENST00000413712.2
exon_skip_5055559111819470:111819602:111822633:111822732:111826756:111826847111822633:111822732ENSG00000106771.8ENST00000374586.3,ENST00000491854.1,ENST00000413712.2
exon_skip_5055569111826756:111826847:111835527:111835718:111843118:111843223111835527:111835718ENSG00000106771.8ENST00000491854.1
exon_skip_5055579111826756:111826847:111835635:111835718:111843118:111843223111835635:111835718ENSG00000106771.8ENST00000374586.3,ENST00000413712.2
exon_skip_5055589111835635:111835718:111843118:111843223:111848276:111848300111843118:111843223ENSG00000106771.8ENST00000374586.3
exon_skip_5055599111835635:111835718:111843118:111843223:111849452:111849573111843118:111843223ENSG00000106771.8ENST00000491854.1,ENST00000413712.2
exon_skip_5055639111843118:111843223:111848276:111848300:111849452:111849573111848276:111848300ENSG00000106771.8ENST00000374586.3
exon_skip_5055729111849452:111849622:111853201:111853435:111855754:111855865111853201:111853435ENSG00000106771.8ENST00000374586.3,ENST00000491854.1
exon_skip_5055799111853201:111853435:111855754:111855871:111868787:111868889111855754:111855871ENSG00000106771.8ENST00000374586.3,ENST00000491854.1

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

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Exon skipping events with PSIs in GTEx for TMEM245

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_5055519111782367:111782785:111795586:111795781:111798485:111798660111795586:111795781ENSG00000106771.8ENST00000374586.3,ENST00000472207.1,ENST00000413712.2,ENST00000491854.1
exon_skip_5055539111798485:111798660:111800296:111800397:111812562:111812708111800296:111800397ENSG00000106771.8ENST00000374586.3,ENST00000413712.2,ENST00000491854.1
exon_skip_5055549111812849:111812972:111819470:111819602:111822633:111822732111819470:111819602ENSG00000106771.8ENST00000374586.3,ENST00000413712.2,ENST00000491854.1
exon_skip_5055559111819470:111819602:111822633:111822732:111826756:111826847111822633:111822732ENSG00000106771.8ENST00000374586.3,ENST00000413712.2,ENST00000491854.1
exon_skip_5055569111826756:111826847:111835527:111835718:111843118:111843223111835527:111835718ENSG00000106771.8ENST00000491854.1
exon_skip_5055579111826756:111826847:111835635:111835718:111843118:111843223111835635:111835718ENSG00000106771.8ENST00000374586.3,ENST00000413712.2
exon_skip_5055589111835635:111835718:111843118:111843223:111848276:111848300111843118:111843223ENSG00000106771.8ENST00000374586.3
exon_skip_5055599111835635:111835718:111843118:111843223:111849452:111849573111843118:111843223ENSG00000106771.8ENST00000413712.2,ENST00000491854.1
exon_skip_5055639111843118:111843223:111848276:111848300:111849452:111849573111848276:111848300ENSG00000106771.8ENST00000374586.3
exon_skip_5055729111849452:111849622:111853201:111853435:111855754:111855865111853201:111853435ENSG00000106771.8ENST00000374586.3,ENST00000491854.1
exon_skip_5055799111853201:111853435:111855754:111855871:111868787:111868889111855754:111855871ENSG00000106771.8ENST00000374586.3,ENST00000491854.1

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 TMEM245

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 TMEM245

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 TMEM245

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
COADTCGA-AM-5820-01exon_skip_505553
111800297111800397111800329111800330Frame_Shift_DelAT-p.731_731del
LIHCTCGA-G3-A3CJ-01exon_skip_505555
111822634111822732111822690111822690Frame_Shift_DelT-p.I556fs
BLCATCGA-LT-A5Z6-01exon_skip_505551
111795587111795781111795591111795591Nonsense_MutationGAp.Q864*
GBMTCGA-41-6646-01exon_skip_505555
111822634111822732111822726111822726Nonsense_MutationTAp.K544*
KIRPTCGA-IZ-8195-01exon_skip_505572
111853202111853435111853340111853340Nonsense_MutationGAp.R338*
KIRPTCGA-IZ-8195-01exon_skip_505572
111853202111853435111853340111853340Nonsense_MutationGAp.R338X
LIHCTCGA-CC-A5UD-01exon_skip_505572
111853202111853435111853343111853343Nonsense_MutationTAp.R337*
LIHCTCGA-CC-A5UD-01exon_skip_505572
111853202111853435111853343111853343Nonsense_MutationTAp.R337X

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
BC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE111843119111843223111843141111843141Frame_Shift_DelA-p.L476fs
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE111795587111795781111795659111795659Missense_MutationCTp.S841N
MFE319_ENDOMETRIUM111795587111795781111795686111795686Missense_MutationAGp.I832T
BICR18_UPPER_AERODIGESTIVE_TRACT111800297111800397111800328111800328Missense_MutationCTp.M731I
HEC108_ENDOMETRIUM111800297111800397111800395111800395Missense_MutationCAp.G709V
SNU407_LARGE_INTESTINE111819471111819602111819553111819553Missense_MutationCTp.R591H
SNGM_ENDOMETRIUM111819471111819602111819587111819587Missense_MutationCTp.G580R
OCIMY5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE111819471111819602111819589111819589Missense_MutationGCp.S579C
NCIH128_LUNG111819471111819602111819600111819600Missense_MutationACp.N575K
PACADD135_PANCREAS111822634111822732111822669111822669Missense_MutationGAp.L563F
MDAMB361_BREAST111843119111843223111843148111843148Missense_MutationGAp.L474F
JHUEM7_ENDOMETRIUM111853202111853435111853303111853303Missense_MutationTGp.K350T
MFE319_ENDOMETRIUM111853202111853435111853405111853405Missense_MutationGTp.T316K
LNCAPCLONEFGC_PROSTATE111853202111853435111853430111853430Missense_MutationCTp.V308M

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TMEM245

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 TMEM245


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TMEM245


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RelatedDrugs for TMEM245

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 TMEM245

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
TMEM245C0036341Schizophrenia1PSYGENET