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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: 13121

FusionGeneSummary for FBXL3_MYCBP2

check button Fusion gene summary
Fusion gene informationFusion gene name: FBXL3_MYCBP2
Fusion gene ID: 13121
HgeneTgene
Gene symbol

FBXL3

MYCBP2

Gene ID

26224

23077

Gene nameF-box and leucine rich repeat protein 3MYC binding protein 2, E3 ubiquitin protein ligase
SynonymsFBL3|FBL3A|FBXL3AMyc-bp2|PAM|Phr
Cytomap

13q22.3

13q22.3

Type of geneprotein-codingprotein-coding
DescriptionF-box/LRR-repeat protein 3F-box and leucine-rich repeat protein 3AF-box protein Fbl3aF-box/LRR-repeat protein 3AE3 ubiquitin-protein ligase MYCBP2HighwireRING-type E3 ubiquitin transferase MYCBP2myc-binding protein 2pam/highwire/rpm-1 proteinprotein associated with Myc
Modification date2018052320180523
UniProtAcc

Q9UKT7

O75592

Ensembl transtripts involved in fusion geneENST00000355619, ENST00000477982, 
ENST00000544440, ENST00000407578, 
ENST00000357337, ENST00000360084, 
ENST00000482517, 
Fusion gene scores* DoF score5 X 4 X 5=1002 X 4 X 2=16
# samples 73
** MAII scorelog2(7/100*10)=-0.514573172829758
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/16*10)=0.906890595608518
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: FBXL3 [Title/Abstract] AND MYCBP2 [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
HgeneFBXL3

GO:0031146

SCF-dependent proteasomal ubiquitin-dependent protein catabolic process

17463251


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-V1-A8WV-01AFBXL3chr13

77589544

-MYCBP2chr13

77625297

-
TCGALDSTADTCGA-RD-A8N9-01AFBXL3chr13

77600962

-MYCBP2chr13

77752089

-
* 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-shiftENST00000355619ENST00000544440FBXL3chr13

77589544

-MYCBP2chr13

77625297

-
Frame-shiftENST00000355619ENST00000407578FBXL3chr13

77589544

-MYCBP2chr13

77625297

-
Frame-shiftENST00000355619ENST00000357337FBXL3chr13

77589544

-MYCBP2chr13

77625297

-
5CDS-intronENST00000355619ENST00000360084FBXL3chr13

77589544

-MYCBP2chr13

77625297

-
5CDS-intronENST00000355619ENST00000482517FBXL3chr13

77589544

-MYCBP2chr13

77625297

-
5UTR-3CDSENST00000477982ENST00000544440FBXL3chr13

77589544

-MYCBP2chr13

77625297

-
5UTR-3CDSENST00000477982ENST00000407578FBXL3chr13

77589544

-MYCBP2chr13

77625297

-
5UTR-3CDSENST00000477982ENST00000357337FBXL3chr13

77589544

-MYCBP2chr13

77625297

-
5UTR-intronENST00000477982ENST00000360084FBXL3chr13

77589544

-MYCBP2chr13

77625297

-
5UTR-intronENST00000477982ENST00000482517FBXL3chr13

77589544

-MYCBP2chr13

77625297

-
5UTR-3CDSENST00000355619ENST00000544440FBXL3chr13

77600962

-MYCBP2chr13

77752089

-
5UTR-3CDSENST00000355619ENST00000407578FBXL3chr13

77600962

-MYCBP2chr13

77752089

-
5UTR-3CDSENST00000355619ENST00000357337FBXL3chr13

77600962

-MYCBP2chr13

77752089

-
5UTR-5UTRENST00000355619ENST00000360084FBXL3chr13

77600962

-MYCBP2chr13

77752089

-
5UTR-intronENST00000355619ENST00000482517FBXL3chr13

77600962

-MYCBP2chr13

77752089

-
intron-3CDSENST00000477982ENST00000544440FBXL3chr13

77600962

-MYCBP2chr13

77752089

-
intron-3CDSENST00000477982ENST00000407578FBXL3chr13

77600962

-MYCBP2chr13

77752089

-
intron-3CDSENST00000477982ENST00000357337FBXL3chr13

77600962

-MYCBP2chr13

77752089

-
intron-5UTRENST00000477982ENST00000360084FBXL3chr13

77600962

-MYCBP2chr13

77752089

-
intron-intronENST00000477982ENST00000482517FBXL3chr13

77600962

-MYCBP2chr13

77752089

-

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FusionProtFeatures for FBXL3_MYCBP2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FBXL3

Q9UKT7

MYCBP2

O75592

Substrate-recognition component of the SCF(FBXL3) E3ubiquitin ligase complex involved in circadian rhythm function.Plays a key role in the maintenance of both the speed and therobustness of the circadian clock oscillation (PubMed:17463251,PubMed:23452855, PubMed:27565346). The SCF(FBXL3) complex mainlyacts in the nucleus and mediates ubiquitination and subsequentdegradation of CRY1 and CRY2 (PubMed:17463251, PubMed:23452855,PubMed:27565346). Activity of the SCF(FBXL3) complex iscounteracted by the SCF(FBXL21) complex (PubMed:23452855).{ECO:0000269|PubMed:17463251, ECO:0000269|PubMed:23452855,ECO:0000269|PubMed:27565346}. Atypical E3 ubiquitin-protein ligase which specificallymediates ubiquitination of threonine and serine residues on targetproteins, instead of ubiquitinating lysine residues(PubMed:29643511). Shows esterification activity towards boththreonine and serine, with a preference for threonine, and actsvia two essential catalytic cysteine residues that relay ubiquitinto its substrate via thioester intermediates (PubMed:29643511).Interacts with the E2 enzymes UBE2D1, UBE2D3, UBE2E1 and UBE2L3(PubMed:18308511, PubMed:29643511). Plays a key role in neuraldevelopment, probably by mediating ubiquitination of threonineresidues on target proteins (Probable). Involved in differentprocesses such as regulation of neurite outgrowth, synapticgrowth, synaptogenesis and axon degeneration (By similarity).Required for the formation of major central nervous system axontracts (By similarity). Required for proper axon growth byregulating axon navigation and axon branching: acts by regulatingthe subcellular location and stability of MAP3K12/DLK (Bysimilarity). Required for proper localization of retinogeniculateprojections but not for eye-specific segregation (By similarity).Regulates axon guidance in the olfactory system (By similarity).Involved in Wallerian axon degeneration, an evolutionarilyconserved process that drives the loss of damaged axons: acts bypromoting destabilization of NMNAT2, probably via ubiquitinationof NMNAT2 (By similarity). Catalyzes ubiquitination of threonineand/or serine residues on NMNAT2, consequences of threonine and/orserine ubiquitination are however unknown (PubMed:29643511).Regulates the internalization of TRPV1 in peripheral sensoryneurons (By similarity). May mediate ubiquitination and subsequentproteasomal degradation of TSC2/tuberin (PubMed:18308511).Independently of the E3 ubiquitin-protein ligase activity, alsoacts as a guanosine exchange factor (GEF) for RAN in neurons ofdorsal root ganglia (PubMed:26304119). May function as afacilitator or regulator of transcriptional activation by MYC(PubMed:9689053). {ECO:0000250|UniProtKB:Q7TPH6,ECO:0000269|PubMed:18308511, ECO:0000269|PubMed:26304119,ECO:0000269|PubMed:29643511, ECO:0000269|PubMed:9689053}.

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 FBXL3_MYCBP2


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 FBXL3_MYCBP2


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
FBXL3CUL1, SKP1, UBE2D2, CDC34, BTG1, BTG2, HSP90AA1, CAND1, CRY1, CRY2, RFX2, RFX1, PPP2R5DMYCBP2BAK1, SFN, MYC, USP11, RAE1, WDR48, NR1D1, UBC, UBE3A, YWHAB, YWHAG, CALM1, SIRT7, FBXO45, CUL4B, ATP13A2, YWHAQ, NOS2, CBX2, CBX4, ROBO2, HDAC11, LGR4, CCDC8, CCDC158, TDGF1, SESN3, DEF6, SKAP1, CLEC11A, CASQ2, LILRA3, ALDH1L2, WHSC1, PLK4, MED4, SRPK2, LGALS3BP, YWHAH, YWHAZ, SLAIN2, VPS26B, SKA1, HEY1, CRY1, CRY2, FBXW7, MEX3C, FAF1, ATOH1, CDC14A, STAT2, DOCK5, CETN1, TXNIP, CDH19, CCDC65, GUCY1B3, GDF10, PAPL, MYLIP, PGBD1, PDGFB, CTNNA3, PCDHA3, NEURL4


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 FBXL3_MYCBP2


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 FBXL3_MYCBP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFBXL3C0005586Bipolar Disorder1PSYGENET