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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: 40888

FusionGeneSummary for UQCRFS1_ANXA3

check button Fusion gene summary
Fusion gene informationFusion gene name: UQCRFS1_ANXA3
Fusion gene ID: 40888
HgeneTgene
Gene symbol

UQCRFS1

ANXA3

Gene ID

7386

306

Gene nameubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1annexin A3
SynonymsRIP1|RIS1|RISP|UQCR5ANX3
Cytomap

19q12

4q21.21

Type of geneprotein-codingprotein-coding
Descriptioncytochrome b-c1 complex subunit Rieske, mitochondrialRieske iron-sulfur proteinRieske protein UQCRFS1complex III subunit 5cytochrome b-c1 complex subunit 5ubiquinol-cytochrome c reductase iron-sulfur subunitannexin A335-alpha calcimedinAnnexin III (lipocortin III)PAP-IIIannexin III (lipocortin III, 1,2-cyclic-inositol-phosphate phosphodiesterase, placental anticoagulant protein III, calcimedin 35-alpha)annexin-3calcimedin 35-alphainositol 1,2-cyclic p
Modification date2018052320180519
UniProtAcc

P47985

P12429

Ensembl transtripts involved in fusion geneENST00000304863, ENST00000264908, 
ENST00000512884, ENST00000503570, 
Fusion gene scores* DoF score3 X 3 X 2=182 X 2 X 2=8
# samples 32
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/8*10)=1.32192809488736
Context

PubMed: UQCRFS1 [Title/Abstract] AND ANXA3 [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
TgeneANXA3

GO:0006909

phagocytosis

9497492

TgeneANXA3

GO:0010595

positive regulation of endothelial cell migration

16236264

TgeneANXA3

GO:0042742

defense response to bacterium

9497492

TgeneANXA3

GO:0043312

neutrophil degranulation

9550422

TgeneANXA3

GO:0045766

positive regulation of angiogenesis

16236264

TgeneANXA3

GO:0051091

positive regulation of DNA binding transcription factor activity

16236264


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
ChiTaRS3.1BI032173UQCRFS1chr19

29703613

+ANXA3chr4

79502926

-
* 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
intron-intronENST00000304863ENST00000264908UQCRFS1chr19

29703613

+ANXA3chr4

79502926

-
intron-intronENST00000304863ENST00000512884UQCRFS1chr19

29703613

+ANXA3chr4

79502926

-
intron-intronENST00000304863ENST00000503570UQCRFS1chr19

29703613

+ANXA3chr4

79502926

-

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FusionProtFeatures for UQCRFS1_ANXA3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
UQCRFS1

P47985

ANXA3

P12429

Cytochrome b-c1 complex subunit Rieske, mitochondrial:Component of the mitochondrial ubiquinol-cytochrome c reductasecomplex dimer (complex III dimer), which is a respiratory chainthat generates an electrochemical potential coupled to ATPsynthesis (PubMed:28673544). Incorporation of UQCRFS1 is thepenultimate step in complex III assembly (By similarity).{ECO:0000250|UniProtKB:P47985, ECO:0000269|PubMed:28673544}. Cytochrome b-c1 complex subunit 9: Possible component ofthe mitochondrial ubiquinol-cytochrome c reductase complex dimer(complex III dimer), which is a respiratory chain that generatesan electrochemical potential coupled to ATP synthesis(PubMed:28673544). UQCRFS1 undergoes proteolytic processing onceit is incorporated in the complex III dimer, including thisfragment, called subunit 9, which corresponds to the transitpeptide (PubMed:28673544). The proteolytic processing is necessaryfor the correct insertion of UQCRFS1 in the complex III dimer, butthe persistence of UQCRFS1-derived fragments may prevent newlyimported UQCRFS1 to be processed and assembled into complex IIIand is detrimental for the complex III structure and function(PubMed:28673544). It is therefore unsure whether the UQCRFS1fragments, including this fragment, are structural subunits(PubMed:28673544). {ECO:0000269|PubMed:28673544}. Inhibitor of phospholipase A2, also possesses anti-coagulant properties. Also cleaves the cyclic bond of inositol1,2-cyclic phosphate to form inositol 1-phosphate.

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 UQCRFS1_ANXA3


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 UQCRFS1_ANXA3


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 UQCRFS1_ANXA3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneANXA3P12429DB09095DifluocortoloneAnnexin A3small moleculeapproved|investigational|withdrawn

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RelatedDiseases for UQCRFS1_ANXA3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneUQCRFS1C0151744Myocardial Ischemia1CTD_human
TgeneANXA3C0003873Rheumatoid Arthritis1CTD_human
TgeneANXA3C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneANXA3C0024141Lupus Erythematosus, Systemic1CTD_human
TgeneANXA3C0033578Prostatic Neoplasms1CTD_human
TgeneANXA3C0919267ovarian neoplasm1CTD_human