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Fusion gene ID: 14811 |
FusionGeneSummary for GMPR2_STOML2 |
Fusion gene summary |
Fusion gene information | Fusion gene name: GMPR2_STOML2 | Fusion gene ID: 14811 | Hgene | Tgene | Gene symbol | GMPR2 | STOML2 | Gene ID | 51292 | 30968 |
Gene name | guanosine monophosphate reductase 2 | stomatin like 2 | |
Synonyms | GMPR 2 | HSPC108|SLP-2 | |
Cytomap | 14q12 | 9p13.3 | |
Type of gene | protein-coding | protein-coding | |
Description | GMP reductase 2guanosine 5'-monophosphate oxidoreductase 2guanosine monophosphate reductase isolog | stomatin-like protein 2, mitochondrialEPB72-like 2EPB72-like protein 2paraprotein target 7paratarg-7stomatin (EPB72)-like 2 | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | Q9P2T1 | Q9UJZ1 | |
Ensembl transtripts involved in fusion gene | ENST00000355299, ENST00000559836, ENST00000559910, ENST00000399440, ENST00000420554, ENST00000348719, ENST00000557854, ENST00000559104, ENST00000456667, ENST00000560517, | ENST00000356493, ENST00000452248, ENST00000487490, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 2 X 2 X 1=4 |
# samples | 1 | 2 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(2/4*10)=2.32192809488736 | |
Context | PubMed: GMPR2 [Title/Abstract] AND STOML2 [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 | GMPR2 | GO:0046037 | GMP metabolic process | 22037469 |
Tgene | STOML2 | GO:0051259 | protein complex oligomerization | 17121834 |
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 | AK075025 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
* 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 |
intron-3CDS | ENST00000355299 | ENST00000356493 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
intron-intron | ENST00000355299 | ENST00000452248 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
intron-intron | ENST00000355299 | ENST00000487490 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
intron-3CDS | ENST00000559836 | ENST00000356493 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
intron-intron | ENST00000559836 | ENST00000452248 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
intron-intron | ENST00000559836 | ENST00000487490 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
intron-3CDS | ENST00000559910 | ENST00000356493 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
intron-intron | ENST00000559910 | ENST00000452248 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
intron-intron | ENST00000559910 | ENST00000487490 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
intron-3CDS | ENST00000399440 | ENST00000356493 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
intron-intron | ENST00000399440 | ENST00000452248 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
intron-intron | ENST00000399440 | ENST00000487490 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
intron-3CDS | ENST00000420554 | ENST00000356493 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
intron-intron | ENST00000420554 | ENST00000452248 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
intron-intron | ENST00000420554 | ENST00000487490 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
Frame-shift | ENST00000348719 | ENST00000356493 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
5CDS-intron | ENST00000348719 | ENST00000452248 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
5CDS-intron | ENST00000348719 | ENST00000487490 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
Frame-shift | ENST00000557854 | ENST00000356493 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
5CDS-intron | ENST00000557854 | ENST00000452248 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
5CDS-intron | ENST00000557854 | ENST00000487490 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
intron-3CDS | ENST00000559104 | ENST00000356493 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
intron-intron | ENST00000559104 | ENST00000452248 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
intron-intron | ENST00000559104 | ENST00000487490 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
intron-3CDS | ENST00000456667 | ENST00000356493 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
intron-intron | ENST00000456667 | ENST00000452248 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
intron-intron | ENST00000456667 | ENST00000487490 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
intron-3CDS | ENST00000560517 | ENST00000356493 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
intron-intron | ENST00000560517 | ENST00000452248 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
intron-intron | ENST00000560517 | ENST00000487490 | GMPR2 | chr14 | 24707667 | + | STOML2 | chr9 | 35101490 | - |
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FusionProtFeatures for GMPR2_STOML2 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
GMPR2 | STOML2 |
Catalyzes the irreversible NADPH-dependent deaminationof GMP to IMP. It functions in the conversion of nucleobase,nucleoside and nucleotide derivatives of G to A nucleotides, andin maintaining the intracellular balance of A and G nucleotides(PubMed:12009299, PubMed:12669231, PubMed:16359702,PubMed:22037469). Plays a role in modulating cellulardifferentiation (PubMed:12669231). {ECO:0000255|HAMAP-Rule:MF_03195, ECO:0000269|PubMed:12009299,ECO:0000269|PubMed:12669231, ECO:0000269|PubMed:16359702,ECO:0000269|PubMed:22037469}. | Mitochondrial protein that probably regulates thebiogenesis and the activity of mitochondria. Stimulatescardiolipin biosynthesis, binds cardiolipin-enriched membraneswhere it recruits and stabilizes some proteins includingprohibitin and may therefore act in the organization of functionalmicrodomains in mitochondrial membranes. Through regulation of themitochondrial function may play a role into several biologicalprocesses including cell migration, cell proliferation, T-cellactivation, calcium homeostasis and cellular response to stress.May play a role in calcium homeostasis through negative regulationof calcium efflux from mitochondria. Required for mitochondrialhyperfusion a pro-survival cellular response to stress whichresults in increased ATP production by mitochondria. May alsoregulate the organization of functional domains at the plasmamembrane and play a role in T-cell activation through associationwith the T-cell receptor signaling complex and its regulation.{ECO:0000269|PubMed:17121834, ECO:0000269|PubMed:18641330,ECO:0000269|PubMed:19597348, ECO:0000269|PubMed:19944461,ECO:0000269|PubMed:21746876, ECO:0000269|PubMed:22623988}. |
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 GMPR2_STOML2 |
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 GMPR2_STOML2 |
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 GMPR2_STOML2 |
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 |
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RelatedDiseases for GMPR2_STOML2 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | GMPR2 | C0001418 | Adenocarcinoma | 1 | CTD_human |
Hgene | GMPR2 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Tgene | STOML2 | C0011616 | Contact Dermatitis | 1 | CTD_human |