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Fusion gene ID: 40881 |
FusionGeneSummary for UQCRC1_FNIP2 |
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Fusion gene information | Fusion gene name: UQCRC1_FNIP2 | Fusion gene ID: 40881 | Hgene | Tgene | Gene symbol | UQCRC1 | FNIP2 | Gene ID | 7384 | 57600 |
Gene name | ubiquinol-cytochrome c reductase core protein 1 | folliculin interacting protein 2 | |
Synonyms | D3S3191|QCR1|UQCR1 | FNIPL|MAPO1 | |
Cytomap | 3p21.31 | 4q32.1 | |
Type of gene | protein-coding | protein-coding | |
Description | cytochrome b-c1 complex subunit 1, mitochondrialcomplex III subunit 1core protein Iubiquinol-cytochrome c reductase core protein Iubiquinol-cytochrome-c reductase complex core protein 1 | folliculin-interacting protein 2FNIP1-like proteinO6-methylguanine-induced apoptosis 1 protein | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | P31930 | Q9P278 | |
Ensembl transtripts involved in fusion gene | ENST00000203407, ENST00000493806, | ENST00000264433, ENST00000379346, ENST00000505445, | |
Fusion gene scores | * DoF score | 4 X 4 X 4=64 | 4 X 4 X 2=32 |
# samples | 4 | 4 | |
** MAII score | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: UQCRC1 [Title/Abstract] AND FNIP2 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | FNIP2 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 21209915 |
Tgene | FNIP2 | GO:0001932 | regulation of protein phosphorylation | 18663353 |
Tgene | FNIP2 | GO:0006468 | protein phosphorylation | 18663353 |
Tgene | FNIP2 | GO:0031334 | positive regulation of protein complex assembly | 25126726 |
Tgene | FNIP2 | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 19914239 |
![]() (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 |
TCGA | RV | PRAD | TCGA-HC-7744-01A | UQCRC1 | chr3 | 48636436 | - | FNIP2 | chr4 | 159750231 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
Frame-shift | ENST00000203407 | ENST00000264433 | UQCRC1 | chr3 | 48636436 | - | FNIP2 | chr4 | 159750231 | + |
Frame-shift | ENST00000203407 | ENST00000379346 | UQCRC1 | chr3 | 48636436 | - | FNIP2 | chr4 | 159750231 | + |
5CDS-3UTR | ENST00000203407 | ENST00000505445 | UQCRC1 | chr3 | 48636436 | - | FNIP2 | chr4 | 159750231 | + |
intron-3CDS | ENST00000493806 | ENST00000264433 | UQCRC1 | chr3 | 48636436 | - | FNIP2 | chr4 | 159750231 | + |
intron-3CDS | ENST00000493806 | ENST00000379346 | UQCRC1 | chr3 | 48636436 | - | FNIP2 | chr4 | 159750231 | + |
intron-3UTR | ENST00000493806 | ENST00000505445 | UQCRC1 | chr3 | 48636436 | - | FNIP2 | chr4 | 159750231 | + |
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FusionProtFeatures for UQCRC1_FNIP2 |
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Hgene | Tgene |
UQCRC1 | FNIP2 |
This is a component of the ubiquinol-cytochrome creductase complex (complex III or cytochrome b-c1 complex), whichis part of the mitochondrial respiratory chain. This protein maymediate formation of the complex between cytochromes c and c1. | Acts as a co-chaperone of HSP90AA1. Inhibits the ATPaseactivity of HSP90AA1 leading to reduction in its chaperoneactivity. Facilitates the binding of client protein FLCN toHSP90AA1 (PubMed:27353360). May play a role in the signaltransduction pathway of apoptosis induced by O6-methylguanine-mispaired lesions (By similarity). May be involved in energyand/or nutrient sensing through the AMPK and mTOR signalingpathways (PubMed:18403135). May regulate phosphorylation ofRPS6KB1 (PubMed:18663353). {ECO:0000250|UniProtKB:Q80TD3,ECO:0000269|PubMed:18403135, ECO:0000269|PubMed:18663353,ECO:0000269|PubMed:27353360}. |
![]() * 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 UQCRC1_FNIP2 |
![]() (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 UQCRC1_FNIP2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
UQCRC1 | RUVBL2, UQCRC2, SNRPF, SRPRB, DNAJA1, RTN4, CYCS, TRIM63, UBC, ICT1, SIRT7, ATP5C1, NDUFV2, ATP5B, SLC25A4, HSPA1L, PHB2, ILF3, FKBP8, DLD, HSP90AA5P, SURF1, ABCB7, PLEC, SLC25A6, ATF2, UBL4A, HNRNPD, MOV10, NXF1, UQCRB, LMAN1, PMPCA, NTRK1, KRAS, NPHP1, DCTN1, POC5, NDUFA12, NDUFS5, VAPA, GOLT1B, MMGT1, FOXH1, FOXI2, MCM2, NLGN3, UQCRQ, UQCRH, STOM, SOAT1, PDHA1, SDHA, VDAC1 | FNIP2 | FLCN, GABARAP, HSP90AA1, HSPA1B, STIP1, CDC37, PTGES3, NR3C1, CDK4, BRAF, FNIP2, FNIP1 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for UQCRC1_FNIP2 |
![]() (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 UQCRC1_FNIP2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |