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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: 40881

FusionGeneSummary for UQCRC1_FNIP2

check button Fusion gene summary
Fusion gene informationFusion gene name: UQCRC1_FNIP2
Fusion gene ID: 40881
HgeneTgene
Gene symbol

UQCRC1

FNIP2

Gene ID

7384

57600

Gene nameubiquinol-cytochrome c reductase core protein 1folliculin interacting protein 2
SynonymsD3S3191|QCR1|UQCR1FNIPL|MAPO1
Cytomap

3p21.31

4q32.1

Type of geneprotein-codingprotein-coding
Descriptioncytochrome b-c1 complex subunit 1, mitochondrialcomplex III subunit 1core protein Iubiquinol-cytochrome c reductase core protein Iubiquinol-cytochrome-c reductase complex core protein 1folliculin-interacting protein 2FNIP1-like proteinO6-methylguanine-induced apoptosis 1 protein
Modification date2018052320180519
UniProtAcc

P31930

Q9P278

Ensembl transtripts involved in fusion geneENST00000203407, ENST00000493806, 
ENST00000264433, ENST00000379346, 
ENST00000505445, 
Fusion gene scores* DoF score4 X 4 X 4=644 X 4 X 2=32
# samples 44
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneFNIP2

GO:0000122

negative regulation of transcription by RNA polymerase II

21209915

TgeneFNIP2

GO:0001932

regulation of protein phosphorylation

18663353

TgeneFNIP2

GO:0006468

protein phosphorylation

18663353

TgeneFNIP2

GO:0031334

positive regulation of protein complex assembly

25126726

TgeneFNIP2

GO:0033138

positive regulation of peptidyl-serine phosphorylation

19914239


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
TCGARVPRADTCGA-HC-7744-01AUQCRC1chr3

48636436

-FNIP2chr4

159750231

+
* 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
Frame-shiftENST00000203407ENST00000264433UQCRC1chr3

48636436

-FNIP2chr4

159750231

+
Frame-shiftENST00000203407ENST00000379346UQCRC1chr3

48636436

-FNIP2chr4

159750231

+
5CDS-3UTRENST00000203407ENST00000505445UQCRC1chr3

48636436

-FNIP2chr4

159750231

+
intron-3CDSENST00000493806ENST00000264433UQCRC1chr3

48636436

-FNIP2chr4

159750231

+
intron-3CDSENST00000493806ENST00000379346UQCRC1chr3

48636436

-FNIP2chr4

159750231

+
intron-3UTRENST00000493806ENST00000505445UQCRC1chr3

48636436

-FNIP2chr4

159750231

+

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FusionProtFeatures for UQCRC1_FNIP2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
UQCRC1

P31930

FNIP2

Q9P278

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}.

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 UQCRC1_FNIP2


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 UQCRC1_FNIP2


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
UQCRC1RUVBL2, 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, VDAC1FNIP2FLCN, GABARAP, HSP90AA1, HSPA1B, STIP1, CDC37, PTGES3, NR3C1, CDK4, BRAF, FNIP2, FNIP1


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 UQCRC1_FNIP2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for UQCRC1_FNIP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource