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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: 9690

FusionGeneSummary for DEF8_FBXO31

check button Fusion gene summary
Fusion gene informationFusion gene name: DEF8_FBXO31
Fusion gene ID: 9690
HgeneTgene
Gene symbol

DEF8

FBXO31

Gene ID

54849

79791

Gene namedifferentially expressed in FDCP 8 homologF-box protein 31
Synonyms-FBX14|FBXO14|Fbx31|MRT45|pp2386
Cytomap

16q24.3

16q24.2

Type of geneprotein-codingprotein-coding
Descriptiondifferentially expressed in FDCP 8 homologDEF-8F-box only protein 31SCF ubiquitin ligase specificity factorputative breast cancer tumor-suppressor
Modification date2018051920180523
UniProtAcc

Q6ZN54

Q5XUX0

Ensembl transtripts involved in fusion geneENST00000563594, ENST00000268676, 
ENST00000569453, ENST00000418391, 
ENST00000567874, ENST00000570182, 
ENST00000563795, ENST00000563848, 
ENST00000311635, ENST00000563956, 
Fusion gene scores* DoF score2 X 2 X 2=83 X 3 X 3=27
# samples 23
** MAII scorelog2(2/8*10)=1.32192809488736log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: DEF8 [Title/Abstract] AND FBXO31 [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
TgeneFBXO31

GO:0006974

cellular response to DNA damage stimulus

19412162

TgeneFBXO31

GO:0031146

SCF-dependent proteasomal ubiquitin-dependent protein catabolic process

19412162


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
TCGARVLUADTCGA-50-6591-01ADEF8chr16

90030983

+FBXO31chr16

87365116

-
* 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-shitENST00000563594ENST00000311635DEF8chr16

90030983

+FBXO31chr16

87365116

-
5CDS-intronENST00000563594ENST00000563956DEF8chr16

90030983

+FBXO31chr16

87365116

-
Frame-shitENST00000268676ENST00000311635DEF8chr16

90030983

+FBXO31chr16

87365116

-
5CDS-intronENST00000268676ENST00000563956DEF8chr16

90030983

+FBXO31chr16

87365116

-
Frame-shitENST00000569453ENST00000311635DEF8chr16

90030983

+FBXO31chr16

87365116

-
5CDS-intronENST00000569453ENST00000563956DEF8chr16

90030983

+FBXO31chr16

87365116

-
intron-3CDSENST00000418391ENST00000311635DEF8chr16

90030983

+FBXO31chr16

87365116

-
intron-intronENST00000418391ENST00000563956DEF8chr16

90030983

+FBXO31chr16

87365116

-
Frame-shitENST00000567874ENST00000311635DEF8chr16

90030983

+FBXO31chr16

87365116

-
5CDS-intronENST00000567874ENST00000563956DEF8chr16

90030983

+FBXO31chr16

87365116

-
Frame-shitENST00000570182ENST00000311635DEF8chr16

90030983

+FBXO31chr16

87365116

-
5CDS-intronENST00000570182ENST00000563956DEF8chr16

90030983

+FBXO31chr16

87365116

-
Frame-shitENST00000563795ENST00000311635DEF8chr16

90030983

+FBXO31chr16

87365116

-
5CDS-intronENST00000563795ENST00000563956DEF8chr16

90030983

+FBXO31chr16

87365116

-
intron-3CDSENST00000563848ENST00000311635DEF8chr16

90030983

+FBXO31chr16

87365116

-
intron-intronENST00000563848ENST00000563956DEF8chr16

90030983

+FBXO31chr16

87365116

-

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FusionProtFeatures for DEF8_FBXO31


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DEF8

Q6ZN54

FBXO31

Q5XUX0

Positively regulates lysosome peripheral distributionand ruffled border formation in osteoclasts. Involved in boneresorption. {ECO:0000250|UniProtKB:Q99J78}. Component of some SCF (SKP1-cullin-F-box) protein ligasecomplex that plays a central role in G1 arrest following DNAdamage. Specifically recognizes phosphorylated cyclin-D1 (CCND1),promoting its ubiquitination and degradation by the proteasome,resulting in G1 arrest. May act as a tumor suppressor.{ECO:0000269|PubMed:16357137, ECO:0000269|PubMed:19412162}.

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 DEF8_FBXO31


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 DEF8_FBXO31


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
DEF8WDFY3, PKN3, APAF1, PLCB1, RADIL, HPS5, KDM5C, MSTO1, ZMYM6, STIL, MCM8, C5orf22, TUBE1, PPIP5K2, NRD1, IFT122, EIF2AK4, DTL, GFER, PKN2, DMXL2, TRIP6, DPYSL4, TUBB3, DSTYK, ALMS1, ATG2B, PASK, ZNHIT2, UHRF1BP1, TRIM25FBXO31CUL1, SKP1, RBX1, CCND1, COPS5, PARD6A, MAP2K6, CDT1, STX3, PDLIM1, MRPS27, EFR3A, EDRF1, MYH6, PRPS1, CEP170P1, QSER1, C18orf21, ZCCHC9, FAM58A, DNAJC19, GHR, MDM2, ZNF131, FOXM1, FAM98A, STYX, SNAI2, SNAI1


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 DEF8_FBXO31


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 DEF8_FBXO31


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