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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: 40797

FusionGeneSummary for UNC13D_FBF1

check button Fusion gene summary
Fusion gene informationFusion gene name: UNC13D_FBF1
Fusion gene ID: 40797
HgeneTgene
Gene symbol

UNC13D

FBF1

Gene ID

201294

85302

Gene nameunc-13 homolog DFas binding factor 1
SynonymsFHL3|HLH3|HPLH3|Munc13-4Alb|FBF-1
Cytomap

17q25.1

17q25.1

Type of geneprotein-codingprotein-coding
Descriptionprotein unc-13 homolog Dfas-binding factor 1Fas (TNFRSF6) binding factor 1Fas binding protein 1albatrossprotein albatross
Modification date2018052220180519
UniProtAcc

Q70J99

Q8TES7

Ensembl transtripts involved in fusion geneENST00000207549, ENST00000412096, 
ENST00000587504, 
ENST00000586717, 
ENST00000319129, ENST00000389570, 
ENST00000586631, ENST00000588478, 
Fusion gene scores* DoF score5 X 6 X 6=1801 X 2 X 2=4
# samples 62
** MAII scorelog2(6/180*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: UNC13D [Title/Abstract] AND FBF1 [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

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
TCGARVLUSCTCGA-94-8491-01AUNC13Dchr17

73838514

-FBF1chr17

73919719

-
TCGARVUCSTCGA-N5-A4RJ-01AUNC13Dchr17

73826109

-FBF1chr17

73914350

-
* 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
In-frameENST00000207549ENST00000586717UNC13Dchr17

73838514

-FBF1chr17

73919719

-
In-frameENST00000207549ENST00000319129UNC13Dchr17

73838514

-FBF1chr17

73919719

-
In-frameENST00000207549ENST00000389570UNC13Dchr17

73838514

-FBF1chr17

73919719

-
5CDS-intronENST00000207549ENST00000586631UNC13Dchr17

73838514

-FBF1chr17

73919719

-
5CDS-intronENST00000207549ENST00000588478UNC13Dchr17

73838514

-FBF1chr17

73919719

-
In-frameENST00000412096ENST00000586717UNC13Dchr17

73838514

-FBF1chr17

73919719

-
In-frameENST00000412096ENST00000319129UNC13Dchr17

73838514

-FBF1chr17

73919719

-
In-frameENST00000412096ENST00000389570UNC13Dchr17

73838514

-FBF1chr17

73919719

-
5CDS-intronENST00000412096ENST00000586631UNC13Dchr17

73838514

-FBF1chr17

73919719

-
5CDS-intronENST00000412096ENST00000588478UNC13Dchr17

73838514

-FBF1chr17

73919719

-
5UTR-3CDSENST00000587504ENST00000586717UNC13Dchr17

73838514

-FBF1chr17

73919719

-
5UTR-3CDSENST00000587504ENST00000319129UNC13Dchr17

73838514

-FBF1chr17

73919719

-
5UTR-3CDSENST00000587504ENST00000389570UNC13Dchr17

73838514

-FBF1chr17

73919719

-
5UTR-intronENST00000587504ENST00000586631UNC13Dchr17

73838514

-FBF1chr17

73919719

-
5UTR-intronENST00000587504ENST00000588478UNC13Dchr17

73838514

-FBF1chr17

73919719

-
In-frameENST00000207549ENST00000586717UNC13Dchr17

73826109

-FBF1chr17

73914350

-
In-frameENST00000207549ENST00000319129UNC13Dchr17

73826109

-FBF1chr17

73914350

-
In-frameENST00000207549ENST00000389570UNC13Dchr17

73826109

-FBF1chr17

73914350

-
5CDS-intronENST00000207549ENST00000586631UNC13Dchr17

73826109

-FBF1chr17

73914350

-
5CDS-intronENST00000207549ENST00000588478UNC13Dchr17

73826109

-FBF1chr17

73914350

-
In-frameENST00000412096ENST00000586717UNC13Dchr17

73826109

-FBF1chr17

73914350

-
In-frameENST00000412096ENST00000319129UNC13Dchr17

73826109

-FBF1chr17

73914350

-
In-frameENST00000412096ENST00000389570UNC13Dchr17

73826109

-FBF1chr17

73914350

-
5CDS-intronENST00000412096ENST00000586631UNC13Dchr17

73826109

-FBF1chr17

73914350

-
5CDS-intronENST00000412096ENST00000588478UNC13Dchr17

73826109

-FBF1chr17

73914350

-
intron-3CDSENST00000587504ENST00000586717UNC13Dchr17

73826109

-FBF1chr17

73914350

-
intron-3CDSENST00000587504ENST00000319129UNC13Dchr17

73826109

-FBF1chr17

73914350

-
intron-3CDSENST00000587504ENST00000389570UNC13Dchr17

73826109

-FBF1chr17

73914350

-
intron-intronENST00000587504ENST00000586631UNC13Dchr17

73826109

-FBF1chr17

73914350

-
intron-intronENST00000587504ENST00000588478UNC13Dchr17

73826109

-FBF1chr17

73914350

-

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FusionProtFeatures for UNC13D_FBF1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
UNC13D

Q70J99

FBF1

Q8TES7

Plays a role in cytotoxic granule exocytosis inlymphocytes. Required for both granule maturation and granuledocking and priming at the immunologic synapse. Regulates assemblyof recycling and late endosomal structures, leading to theformation of an endosomal exocytic compartment that fuses withperforin-containing granules at the immunologic synapse andlicences them for exocytosis. Regulates Ca(2+)-dependent secretorylysosome exocytosis in mast cells. {ECO:0000269|PubMed:15548590,ECO:0000269|PubMed:17237785}. Keratin-binding protein required for epithelial cellpolarization. Involved in apical junction complex (AJC) assemblyvia its interaction with PARD3. Required for ciliogenesis.{ECO:0000269|PubMed:18838552, ECO:0000269|PubMed:23348840}.

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
HgeneUNC13Dchr17:73826109chr17:73914350ENST00000207549-3032557_6779841091DomainMHD1
HgeneUNC13Dchr17:73826109chr17:73914350ENST00000207549-3032788_8959841091DomainMHD2
HgeneUNC13Dchr17:73826109chr17:73914350ENST00000207549-303298_2219841091DomainC2 1
HgeneUNC13Dchr17:73826109chr17:73914350ENST00000412096-3033557_6779841143DomainMHD1
HgeneUNC13Dchr17:73826109chr17:73914350ENST00000412096-3033788_8959841143DomainMHD2
HgeneUNC13Dchr17:73826109chr17:73914350ENST00000412096-303398_2219841143DomainC2 1
TgeneFBF1chr17:73826109chr17:73914350ENST00000319129-1829773_8706971134Coiled coilOntology_term=ECO:0000255
TgeneFBF1chr17:73826109chr17:73914350ENST00000586717-1829773_8706981134Coiled coilOntology_term=ECO:0000255
TgeneFBF1chr17:73838514chr17:73919719ENST00000319129-1129577_7273081134Coiled coilOntology_term=ECO:0000255
TgeneFBF1chr17:73838514chr17:73919719ENST00000319129-1129773_8703081134Coiled coilOntology_term=ECO:0000255
TgeneFBF1chr17:73838514chr17:73919719ENST00000586717-1129577_7273081134Coiled coilOntology_term=ECO:0000255
TgeneFBF1chr17:73838514chr17:73919719ENST00000586717-1129773_8703081134Coiled coilOntology_term=ECO:0000255
TgeneFBF1chr17:73826109chr17:73914350ENST00000319129-1829999_10456971134Compositional biasNote=Gln-rich
TgeneFBF1chr17:73826109chr17:73914350ENST00000586717-1829999_10456981134Compositional biasNote=Gln-rich
TgeneFBF1chr17:73838514chr17:73919719ENST00000319129-1129999_10453081134Compositional biasNote=Gln-rich
TgeneFBF1chr17:73838514chr17:73919719ENST00000586717-1129999_10453081134Compositional biasNote=Gln-rich

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneUNC13Dchr17:73826109chr17:73914350ENST00000207549-3032912_10199841091DomainC2 2
HgeneUNC13Dchr17:73826109chr17:73914350ENST00000412096-3033912_10199841143DomainC2 2
HgeneUNC13Dchr17:73838514chr17:73919719ENST00000207549-632557_6771891091DomainMHD1
HgeneUNC13Dchr17:73838514chr17:73919719ENST00000207549-632788_8951891091DomainMHD2
HgeneUNC13Dchr17:73838514chr17:73919719ENST00000207549-632912_10191891091DomainC2 2
HgeneUNC13Dchr17:73838514chr17:73919719ENST00000207549-63298_2211891091DomainC2 1
HgeneUNC13Dchr17:73838514chr17:73919719ENST00000412096-633557_6771891143DomainMHD1
HgeneUNC13Dchr17:73838514chr17:73919719ENST00000412096-633788_8951891143DomainMHD2
HgeneUNC13Dchr17:73838514chr17:73919719ENST00000412096-633912_10191891143DomainC2 2
HgeneUNC13Dchr17:73838514chr17:73919719ENST00000412096-63398_2211891143DomainC2 1
TgeneFBF1chr17:73826109chr17:73914350ENST00000319129-1829577_7276971134Coiled coilOntology_term=ECO:0000255
TgeneFBF1chr17:73826109chr17:73914350ENST00000586717-1829577_7276981134Coiled coilOntology_term=ECO:0000255


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FusionGeneSequence for UNC13D_FBF1


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 UNC13D_FBF1


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
UNC13DRAB27A, LMNA, XRN2, VPS37B, CUL5, ANXA5, DPYSL2, AACS, G6PD, PICALMFBF1CALCOCO2, TRIM27, CCDC85B, RHOXF2, USHBP1, HIF1AN, IFT20, GCC1, ACCS, TUBGCP4, TRAF2, TRIM29, TCEA2, FAS, CUL3, CUL4B, CUL2, CUL1, DCUN1D1, CAND1, APP, ANKRD28, DGCR6, VCP, AES, TRIM23, GATA1, GOLGA2, KRT13, KRT31, MEOX2, TADA2A, TRAF1, SUMO1, BLZF1, PNMA1, TMCC2, RBPMS, MID2, IKZF3, ABI3, CINP, FAM208B, CEP55, TEX11, TRIM54, VPS37B, CCDC102B, CEP63, TSGA10, LZTS2, SSX2IP, KRT40, TTC32, MIPOL1, CCDC67, USP7, CLK1, CEP128, ABLIM1, ACADSB, ADSL, AGK, CEP131, BCAS3, TMEM256, CBL, CC2D1A, CCDC85C, CCNB1, CEP170, CEP85, CLTC, CPVL, CSPP1, CTBP1, CTSB, DNM2, DNMBP, EIF4ENIF1, ERC1, FAM21A, FLOT1, GARS, GPATCH1, GRB2, HAUS3, HAUS6, HAUS8, HK1, HYOU1, IFT74, IFT81, IGF2BP2, ITSN2, LASP1, MGST3, MYCBPAP, NEDD1, NMT1, NNT, NRBF2, NT5C2, PCM1, PEA15, PLK1, PRKRA, RBM14-RBM4, SCFD1, SCLT1, SDCCAG3, SDHC, SEC24B, SIRT2, SNX9, SORBS1, SRSF2, STAM, STAM2, STT3B, TIMM23B, TJP1, TJP2, TNIP1, TNRC6B, TP53BP2, TRIM26, TSFM, TTLL12, TXLNA, TXLNG, UNC45A, VCL, WDR83, YARS2, CARHSP1, CEP192, FKBP15, OFD1, PDIA3, PRKACA, PSMD7, RAB2A, RAB7A, SCRIB, SPTBN5


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
HgeneUNC13Dchr17:73826109chr17:73914350ENST00000207549-3032240_5439841091RAB27A
HgeneUNC13Dchr17:73826109chr17:73914350ENST00000412096-3033240_5439841143RAB27A


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneUNC13Dchr17:73838514chr17:73919719ENST00000207549-632240_5431891091RAB27A
HgeneUNC13Dchr17:73838514chr17:73919719ENST00000412096-633240_5431891143RAB27A


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for UNC13D_FBF1


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 UNC13D_FBF1


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