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Fusion gene ID: 38327 |
FusionGeneSummary for TMED2_PPIA |
Fusion gene summary |
Fusion gene information | Fusion gene name: TMED2_PPIA | Fusion gene ID: 38327 | Hgene | Tgene | Gene symbol | TMED2 | PPIA | Gene ID | 10959 | 5478 |
Gene name | transmembrane p24 trafficking protein 2 | peptidylprolyl isomerase A | |
Synonyms | P24A|RNP24|p24|p24b1|p24beta1 | CYPA|CYPH|HEL-S-69p | |
Cytomap | 12q24.31 | 7p13 | |
Type of gene | protein-coding | protein-coding | |
Description | transmembrane emp24 domain-containing protein 2coated vesicle membrane proteinmembrane protein p24Ap24 family protein beta-1transmembrane emp24 domain trafficking protein 2 | peptidyl-prolyl cis-trans isomerase APPIase AT cell cyclophilincyclosporin A-binding proteinepididymis secretory sperm binding protein Li 69ppeptidylprolyl isomerase A (cyclophilin A)rotamase A | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q15363 | P62937 | |
Ensembl transtripts involved in fusion gene | ENST00000262225, ENST00000509052, | ENST00000451562, ENST00000468812, ENST00000489459, ENST00000355968, ENST00000480603, | |
Fusion gene scores | * DoF score | 4 X 5 X 1=20 | 6 X 6 X 2=72 |
# samples | 5 | 7 | |
** MAII score | log2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | TMED2 | GO:0006886 | intracellular protein transport | 20427317 |
Hgene | TMED2 | GO:0034260 | negative regulation of GTPase activity | 10761932 |
Hgene | TMED2 | GO:0072659 | protein localization to plasma membrane | 20361938 |
Tgene | PPIA | GO:0000413 | protein peptidyl-prolyl isomerization | 14993672|20676357 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BM752192 | TMED2 | chr12 | 124082124 | + | PPIA | chr7 | 44836280 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
3UTR-3CDS | ENST00000262225 | ENST00000451562 | TMED2 | chr12 | 124082124 | + | PPIA | chr7 | 44836280 | + |
3UTR-3CDS | ENST00000262225 | ENST00000468812 | TMED2 | chr12 | 124082124 | + | PPIA | chr7 | 44836280 | + |
3UTR-3CDS | ENST00000262225 | ENST00000489459 | TMED2 | chr12 | 124082124 | + | PPIA | chr7 | 44836280 | + |
3UTR-3CDS | ENST00000262225 | ENST00000355968 | TMED2 | chr12 | 124082124 | + | PPIA | chr7 | 44836280 | + |
3UTR-intron | ENST00000262225 | ENST00000480603 | TMED2 | chr12 | 124082124 | + | PPIA | chr7 | 44836280 | + |
intron-3CDS | ENST00000509052 | ENST00000451562 | TMED2 | chr12 | 124082124 | + | PPIA | chr7 | 44836280 | + |
intron-3CDS | ENST00000509052 | ENST00000468812 | TMED2 | chr12 | 124082124 | + | PPIA | chr7 | 44836280 | + |
intron-3CDS | ENST00000509052 | ENST00000489459 | TMED2 | chr12 | 124082124 | + | PPIA | chr7 | 44836280 | + |
intron-3CDS | ENST00000509052 | ENST00000355968 | TMED2 | chr12 | 124082124 | + | PPIA | chr7 | 44836280 | + |
intron-intron | ENST00000509052 | ENST00000480603 | TMED2 | chr12 | 124082124 | + | PPIA | chr7 | 44836280 | + |
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FusionProtFeatures for TMED2_PPIA |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
TMED2 | PPIA |
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}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for TMED2_PPIA |
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 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for TMED2_PPIA |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | PPIA | P62937 | DB11638 | Artenimol | Peptidyl-prolyl cis-trans isomerase A | small molecule | approved|investigational |
Tgene | PPIA | P62937 | DB00091 | Cyclosporine | Peptidyl-prolyl cis-trans isomerase A | small molecule | approved|investigational|vet_approved |
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RelatedDiseases for TMED2_PPIA |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | TMED2 | C0151744 | Myocardial Ischemia | 1 | CTD_human |
Tgene | PPIA | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
Tgene | PPIA | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
Tgene | PPIA | C0026640 | Mouth Neoplasms | 1 | CTD_human |
Tgene | PPIA | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
Tgene | PPIA | C0036341 | Schizophrenia | 1 | PSYGENET |
Tgene | PPIA | C0038356 | Stomach Neoplasms | 1 | CTD_human |