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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 TMEM87A

check button Gene summary
Gene informationGene symbol

TMEM87A

Gene ID

25963

Gene nametransmembrane protein 87A
Synonyms-
Cytomap

15q15.1

Type of geneprotein-coding
Descriptiontransmembrane protein 87A
Modification date20180519
UniProtAcc

Q8NBN3

ContextPubMed: TMEM87A [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 TMEM87A 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 TMEM87A

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 TMEM87A

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1263561542512259:42512333:42519003:42519107:42519908:4251996742519003:42519107ENSG00000103978.11ENST00000389834.4,ENST00000448392.1
exon_skip_1263611542523389:42523458:42525410:42525504:42528517:4252861742525410:42525504ENSG00000103978.11ENST00000389834.4,ENST00000562946.1,ENST00000448392.1
exon_skip_1263641542525410:42525504:42528517:42528617:42529629:4252967342528517:42528617ENSG00000103978.11ENST00000566014.1,ENST00000389834.4,ENST00000562946.1,ENST00000569075.1,ENST00000448392.1
exon_skip_1263651542529742:42529813:42531867:42531929:42536247:4253636542531867:42531929ENSG00000103978.11ENST00000389834.4,ENST00000562946.1,ENST00000563371.1,ENST00000569075.1,ENST00000448392.1,ENST00000568400.1
exon_skip_1263681542531867:42531929:42536247:42536365:42553155:4255320042536247:42536365ENSG00000103978.11ENST00000389834.4,ENST00000562946.1,ENST00000563371.1,ENST00000569075.1,ENST00000561578.1,ENST00000448392.1,ENST00000568400.1
exon_skip_1263691542536329:42536365:42553155:42553200:42553393:4255344742553155:42553200ENSG00000103978.11ENST00000566474.1,ENST00000389834.4,ENST00000562946.1,ENST00000563371.1,ENST00000569075.1,ENST00000561578.1,ENST00000448392.1,ENST00000568400.1
exon_skip_1263701542553393:42553447:42554320:42554441:42556287:4255640142554320:42554441ENSG00000103978.11ENST00000563371.1
exon_skip_1263721542560144:42560230:42564260:42564321:42565452:4256551342564260:42564321ENSG00000103978.11ENST00000307216.6,ENST00000562946.1

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

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Exon skipping events with PSIs in GTEx for TMEM87A

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1263561542512259:42512333:42519003:42519107:42519908:4251996742519003:42519107ENSG00000103978.11ENST00000389834.4,ENST00000448392.1
exon_skip_1263611542523389:42523458:42525410:42525504:42528517:4252861742525410:42525504ENSG00000103978.11ENST00000389834.4,ENST00000448392.1,ENST00000562946.1
exon_skip_1263641542525410:42525504:42528517:42528617:42529629:4252967342528517:42528617ENSG00000103978.11ENST00000389834.4,ENST00000448392.1,ENST00000566014.1,ENST00000562946.1,ENST00000569075.1
exon_skip_1263651542529742:42529813:42531867:42531929:42536247:4253636542531867:42531929ENSG00000103978.11ENST00000389834.4,ENST00000448392.1,ENST00000562946.1,ENST00000569075.1,ENST00000568400.1,ENST00000563371.1
exon_skip_1263681542531867:42531929:42536247:42536365:42553155:4255320042536247:42536365ENSG00000103978.11ENST00000389834.4,ENST00000448392.1,ENST00000562946.1,ENST00000569075.1,ENST00000568400.1,ENST00000563371.1,ENST00000561578.1
exon_skip_1263691542536329:42536365:42553155:42553200:42553393:4255344742553155:42553200ENSG00000103978.11ENST00000389834.4,ENST00000448392.1,ENST00000562946.1,ENST00000569075.1,ENST00000568400.1,ENST00000563371.1,ENST00000561578.1,ENST00000566474.1
exon_skip_1263701542553393:42553447:42554320:42554441:42556287:4255640142554320:42554441ENSG00000103978.11ENST00000563371.1
exon_skip_1263721542560144:42560230:42564260:42564321:42565452:4256551342564260:42564321ENSG00000103978.11ENST00000562946.1,ENST00000307216.6

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 TMEM87A

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
ENST000003898344251900342519107Frame-shift
ENST000003898344252541042525504Frame-shift
ENST000003898344252851742528617Frame-shift
ENST000003898344253186742531929Frame-shift
ENST000003898344253624742536365Frame-shift
ENST000003898344255315542553200In-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
ENST000003898344251900342519107Frame-shift
ENST000003898344252541042525504Frame-shift
ENST000003898344252851742528617Frame-shift
ENST000003898344253186742531929Frame-shift
ENST000003898344253624742536365Frame-shift
ENST000003898344255315542553200In-frame

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Infer the effects of exon skipping event on protein functional features for TMEM87A

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
ENST0000038983431265554255315542553200725769153168

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
ENST0000038983431265554255315542553200725769153168

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
Q8NBN315316822555ChainID=PRO_0000270751;Note=Transmembrane protein 87A
Q8NBN3153168157157GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19349973;Dbxref=PMID:19349973
Q8NBN3153168160160GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19349973;Dbxref=PMID:19349973
Q8NBN315316822225Topological domainNote=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305


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
Q8NBN315316822555ChainID=PRO_0000270751;Note=Transmembrane protein 87A
Q8NBN3153168157157GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19349973;Dbxref=PMID:19349973
Q8NBN3153168160160GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19349973;Dbxref=PMID:19349973
Q8NBN315316822225Topological domainNote=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305


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SNVs in the skipped exons for TMEM87A

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_126368
42536248425363654253627142536271Frame_Shift_DelT-p.N200fs
LIHCTCGA-DD-A1EG-01exon_skip_126372
42564261425643214256430142564301Frame_Shift_DelA-p.F55fs
COADTCGA-D5-6930-01exon_skip_126372
42564261425643214256431442564314Frame_Shift_DelT-p.N51fs
KICHTCGA-KN-8428-01exon_skip_126372
42564261425643214256431442564314Frame_Shift_DelT-p.N51fs
CESCTCGA-FU-A2QG-01exon_skip_126365
42531868425319294253188842531888Nonsense_MutationCAp.E222*
LIHCTCGA-DD-A119-01exon_skip_126365
42531868425319294253186642531866Splice_SiteAG.

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
HEC151_ENDOMETRIUM42564261425643214256431442564314Frame_Shift_DelT-p.N51fs
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE42519004425191074251910042519100Missense_MutationCTp.R436Q
MDAMB231_BREAST42519004425191074251910042519100Missense_MutationCTp.R436Q
COLO684_ENDOMETRIUM42525411425255044252550042525500Missense_MutationGAp.R325C
NUDUL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE42528518425286174252854742528547Missense_MutationGCp.I313M
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE42536248425363654253632642536326Missense_MutationAGp.Y182H
ML2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE42525411425255044252545342525453Nonsense_MutationACp.Y340*
MOGGCCM_CENTRAL_NERVOUS_SYSTEM42553156425532004255320042553200Splice_SiteCTp.A154T

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TMEM87A

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 TMEM87A


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TMEM87A


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RelatedDrugs for TMEM87A

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 TMEM87A

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