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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 38327

FusionGeneSummary for TMED2_PPIA

check button Fusion gene summary
Fusion gene informationFusion gene name: TMED2_PPIA
Fusion gene ID: 38327
HgeneTgene
Gene symbol

TMED2

PPIA

Gene ID

10959

5478

Gene nametransmembrane p24 trafficking protein 2peptidylprolyl isomerase A
SynonymsP24A|RNP24|p24|p24b1|p24beta1CYPA|CYPH|HEL-S-69p
Cytomap

12q24.31

7p13

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane emp24 domain-containing protein 2coated vesicle membrane proteinmembrane protein p24Ap24 family protein beta-1transmembrane emp24 domain trafficking protein 2peptidyl-prolyl cis-trans isomerase APPIase AT cell cyclophilincyclosporin A-binding proteinepididymis secretory sperm binding protein Li 69ppeptidylprolyl isomerase A (cyclophilin A)rotamase A
Modification date2018052320180523
UniProtAcc

Q15363

P62937

Ensembl transtripts involved in fusion geneENST00000262225, ENST00000509052, 
ENST00000451562, ENST00000468812, 
ENST00000489459, ENST00000355968, 
ENST00000480603, 
Fusion gene scores* DoF score4 X 5 X 1=206 X 6 X 2=72
# samples 57
** MAII scorelog2(5/20*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(7/72*10)=-0.0406419844973459
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TMED2 [Title/Abstract] AND PPIA [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneTMED2

GO:0006886

intracellular protein transport

20427317

HgeneTMED2

GO:0034260

negative regulation of GTPase activity

10761932

HgeneTMED2

GO:0072659

protein localization to plasma membrane

20361938

TgenePPIA

GO:0000413

protein peptidyl-prolyl isomerization

14993672|20676357


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BM752192TMED2chr12

124082124

+PPIAchr7

44836280

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
3UTR-3CDSENST00000262225ENST00000451562TMED2chr12

124082124

+PPIAchr7

44836280

+
3UTR-3CDSENST00000262225ENST00000468812TMED2chr12

124082124

+PPIAchr7

44836280

+
3UTR-3CDSENST00000262225ENST00000489459TMED2chr12

124082124

+PPIAchr7

44836280

+
3UTR-3CDSENST00000262225ENST00000355968TMED2chr12

124082124

+PPIAchr7

44836280

+
3UTR-intronENST00000262225ENST00000480603TMED2chr12

124082124

+PPIAchr7

44836280

+
intron-3CDSENST00000509052ENST00000451562TMED2chr12

124082124

+PPIAchr7

44836280

+
intron-3CDSENST00000509052ENST00000468812TMED2chr12

124082124

+PPIAchr7

44836280

+
intron-3CDSENST00000509052ENST00000489459TMED2chr12

124082124

+PPIAchr7

44836280

+
intron-3CDSENST00000509052ENST00000355968TMED2chr12

124082124

+PPIAchr7

44836280

+
intron-intronENST00000509052ENST00000480603TMED2chr12

124082124

+PPIAchr7

44836280

+

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FusionProtFeatures for TMED2_PPIA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TMED2

Q15363

PPIA

P62937

Involved in vesicular protein trafficking. Mainlyfunctions in the early secretory pathway but also in post-Golgimembranes. Thought to act as cargo receptor at the lumenal sidefor incorporation of secretory cargo molecules into transportvesicles and to be involved in vesicle coat formation at thecytoplasmic side. In COPII vesicle-mediated anterograde transportinvolved in the transport of GPI-anchored proteins and proposed toact together with TMED10 as their cargo receptor; the functionspecifically implies SEC24C and SEC24D of the COPII vesicle coatand lipid raft-like microdomains of the ER. Recognizes GPI anchorsstructural remodeled in the ER by PGAP1 and MPPE1. In COPIvesicle-mediated retrograde transport inhibits the GTPase-activating activity of ARFGAP1 towards ARF1 thus preventingimmature uncoating and allowing cargo selection to take place.Involved in trafficking of G protein-coupled receptors (GPCRs).Regulates F2RL1, OPRM1 and P2RY4 exocytic trafficking from theGolgi to the plasma membrane thus contributing to receptorresensitization. Facilitates CASR maturation and stabilization inthe early secretory pathway and increases CASR plasma membranetargeting. Proposed to be involved in organization ofintracellular membranes such as the maintenance of the Golgiapparatus. May also play a role in the biosynthesis of secretedcargo such as eventual processing. {ECO:0000269|PubMed:10761932,ECO:0000269|PubMed:17693410, ECO:0000269|PubMed:20361938,ECO:0000269|PubMed:20427317, ECO:0000269|PubMed:21219331}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for TMED2_PPIA


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for TMED2_PPIA


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for TMED2_PPIA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgenePPIAP62937DB11638ArtenimolPeptidyl-prolyl cis-trans isomerase Asmall moleculeapproved|investigational
TgenePPIAP62937DB00091CyclosporinePeptidyl-prolyl cis-trans isomerase Asmall moleculeapproved|investigational|vet_approved

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RelatedDiseases for TMED2_PPIA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTMED2C0151744Myocardial Ischemia1CTD_human
TgenePPIAC0007131Non-Small Cell Lung Carcinoma1CTD_human
TgenePPIAC0007137Squamous cell carcinoma1CTD_human
TgenePPIAC0026640Mouth Neoplasms1CTD_human
TgenePPIAC0027627Neoplasm Metastasis1CTD_human
TgenePPIAC0036341Schizophrenia1PSYGENET
TgenePPIAC0038356Stomach Neoplasms1CTD_human