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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: 21055

FusionGeneSummary for MAPRE1_UQCC1

check button Fusion gene summary
Fusion gene informationFusion gene name: MAPRE1_UQCC1
Fusion gene ID: 21055
HgeneTgene
Gene symbol

MAPRE1

UQCC1

Gene ID

22919

55245

Gene namemicrotubule associated protein RP/EB family member 1ubiquinol-cytochrome c reductase complex assembly factor 1
SynonymsEB1BFZB|C20orf44|CBP3|UQCC
Cytomap

20q11.21

20q11.22

Type of geneprotein-codingprotein-coding
Descriptionmicrotubule-associated protein RP/EB family member 1APC-binding protein EB1adenomatous polyposis coli-binding protein EB1end-binding protein 1ubiquinol-cytochrome-c reductase complex assembly factor 1bFGF-repressed Zic-binding proteinbasic FGF-repressed Zic-binding proteincytochrome B protein synthesis 3 homologubiquinol-cytochrome c reductase complex chaperone CBP3 homolog
Modification date2018052320180519
UniProtAcc

Q15691

Q9NVA1

Ensembl transtripts involved in fusion geneENST00000375571, ENST00000349714, 
ENST00000359226, ENST00000374384, 
ENST00000374380, ENST00000374385, 
ENST00000374377, ENST00000397556, 
ENST00000407996, ENST00000540457, 
ENST00000542501, ENST00000397554, 
ENST00000491125, 
Fusion gene scores* DoF score8 X 6 X 6=2884 X 3 X 3=36
# samples 84
** MAII scorelog2(8/288*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: MAPRE1 [Title/Abstract] AND UQCC1 [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
HgeneMAPRE1

GO:0031115

negative regulation of microtubule polymerization

11943150

HgeneMAPRE1

GO:0035372

protein localization to microtubule

19632184|21820309

TgeneUQCC1

GO:0034551

mitochondrial respiratory chain complex III assembly

24385928

TgeneUQCC1

GO:0070131

positive regulation of mitochondrial translation

24385928


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
TCGALDBLCATCGA-YC-A89H-01AMAPRE1chr20

31413854

+UQCC1chr20

33935075

-
* 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-shiftENST00000375571ENST00000349714MAPRE1chr20

31413854

+UQCC1chr20

33935075

-
5CDS-intronENST00000375571ENST00000359226MAPRE1chr20

31413854

+UQCC1chr20

33935075

-
5CDS-intronENST00000375571ENST00000374384MAPRE1chr20

31413854

+UQCC1chr20

33935075

-
5CDS-intronENST00000375571ENST00000374380MAPRE1chr20

31413854

+UQCC1chr20

33935075

-
5CDS-intronENST00000375571ENST00000374385MAPRE1chr20

31413854

+UQCC1chr20

33935075

-
5CDS-intronENST00000375571ENST00000374377MAPRE1chr20

31413854

+UQCC1chr20

33935075

-
5CDS-intronENST00000375571ENST00000397556MAPRE1chr20

31413854

+UQCC1chr20

33935075

-
5CDS-intronENST00000375571ENST00000407996MAPRE1chr20

31413854

+UQCC1chr20

33935075

-
5CDS-5UTRENST00000375571ENST00000540457MAPRE1chr20

31413854

+UQCC1chr20

33935075

-
5CDS-5UTRENST00000375571ENST00000542501MAPRE1chr20

31413854

+UQCC1chr20

33935075

-
5CDS-5UTRENST00000375571ENST00000397554MAPRE1chr20

31413854

+UQCC1chr20

33935075

-
5CDS-5UTRENST00000375571ENST00000491125MAPRE1chr20

31413854

+UQCC1chr20

33935075

-

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FusionProtFeatures for MAPRE1_UQCC1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MAPRE1

Q15691

UQCC1

Q9NVA1

Plus-end tracking protein (+TIP) that binds to the plus-end of microtubules and regulates the dynamics of the microtubulecytoskeleton (PubMed:12388762, PubMed:16109370, PubMed:19632184,PubMed:21646404, PubMed:28726242, PubMed:28814570). Promotescytoplasmic microtubule nucleation and elongation(PubMed:12388762, PubMed:16109370, PubMed:19632184,PubMed:21646404, PubMed:28726242, PubMed:28814570). May beinvolved in spindle function by stabilizing microtubules andanchoring them at centrosomes (PubMed:12388762). Also acts as aregulator of minus-end microtubule organization: interacts withthe complex formed by AKAP9 and PDE4DIP, leading to recruitCAMSAP2 to the Golgi apparatus, thereby tethering non-centrosomalminus-end microtubules to the Golgi, an important step forpolarized cell movement (PubMed:28814570). Promotes elongation ofCAMSAP2-decorated microtubule stretches on the minus-end ofmicrotubules (PubMed:28814570). Acts as a regulator ofautophagosome transport via interaction with CAMSAP2(PubMed:28726242). May play a role in cell migration (Bysimilarity). {ECO:0000250|UniProtKB:Q61166,ECO:0000269|PubMed:12388762, ECO:0000269|PubMed:16109370,ECO:0000269|PubMed:19632184, ECO:0000269|PubMed:21646404,ECO:0000269|PubMed:28726242, ECO:0000269|PubMed:28814570}.

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 MAPRE1_UQCC1


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 MAPRE1_UQCC1


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
MAPRE1APC, TERF1, COPS5, COPS8, CSN3, COPS7A, HDAC6, LRP1, APP, CDK2, AURKA, AURKB, TUBB, SPTAN1, FN1, VCAM1, IQCB1, ITGA4, CLIP1, TUBA1A, BAG3, CDK5RAP2, OLA1, SNRPD2, SNRPE, SNRPF, TBCB, YWHAZ, PAFAH1B1, PRKACA, PRKACB, STIM1, NAV1, NAV2, NAV3, TRIO, LMO2, POLE2, PSMA1, PDE4DIP, TROAP, PQBP1, MAPRE2, MAPRE1, MAPRE3, SPDYE2, CYLD, IKBKG, HSPA1A, TRAF2, ABCB1, STK11, BCL3, KAT2B, KAT5, MTUS2, KIF2C, MACF1, CLASP1, CLASP2, NUPR1, ABCE1, GAS2L1, DST, PPP1R13L, AKAP9, KIF18B, UNK, CKAP5, SUMO3, UCHL3, NTRK1, EWSR1, SRPK2, CEP135, CEP290, LCA5, OFD1, CEP170, CEP104, DCTN1, CEP19, ACTN4, ACTN1, ADD1, ADD3, BLMH, CALM1, CALML3, CAPZA1, CD59, CLTA, CLTB, CLTC, CPM, CTNNA1, CTNNB1, DAB2, DBN1, DYNC1H1, DYNC1I2, EPS15, FLNA, FYN, GNAI2, HSP90AB1, ABLIM1, MYO1E, PCM1, PCNT, PLEC, PRKAR2A, QARS, SPTBN1, SSFA2, SVIL, TMOD1, TPM4, CLIP2, YES1, LUZP1, AXIN1, SORBS2, TAOK2, CEP350, SEC16A, WDR1, ACTR1A, PIBF1, DCTN2, SPAG5, RAB35, FGFR1OP, SYNPO, CEP162, CEP131, ERC1, COBL, LIMA1, SYBU, CEP72, MIB1, AFAP1, HYI, DYNLRB1, CCDC77, KNSTRN, NEXN, SPECC1, TBC1D31, SSX2IP, MISP, CD109, WDR90, TPRN, U2AF2, CDH1, KLHL21, PRKAR2B, HSPA5, PSMB1, TANC2, PPP1CA, IFT52, G3BP1UQCC1BRCA2, UQCC2, ECHDC2, LRRC46, MRM1, COX20, LPAR1, OXLD1, TRUB2, NDUFA4, SBF1, TM2D2, P3H1, CSNK1E, FADS1, MRPL10, CDH13, YARS2, FECH, CLPP, NDUFA13, CDIPT, SLX1A, C3AR1, CDR2, TRIM25


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 MAPRE1_UQCC1


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 MAPRE1_UQCC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMAPRE1C0043094Weight Gain1CTD_human
HgeneMAPRE1C0151744Myocardial Ischemia1CTD_human