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Fusion gene ID: 40797 |
FusionGeneSummary for UNC13D_FBF1 |
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Fusion gene information | Fusion gene name: UNC13D_FBF1 | Fusion gene ID: 40797 | Hgene | Tgene | Gene symbol | UNC13D | FBF1 | Gene ID | 201294 | 85302 |
Gene name | unc-13 homolog D | Fas binding factor 1 | |
Synonyms | FHL3|HLH3|HPLH3|Munc13-4 | Alb|FBF-1 | |
Cytomap | 17q25.1 | 17q25.1 | |
Type of gene | protein-coding | protein-coding | |
Description | protein unc-13 homolog D | fas-binding factor 1Fas (TNFRSF6) binding factor 1Fas binding protein 1albatrossprotein albatross | |
Modification date | 20180522 | 20180519 | |
UniProtAcc | Q70J99 | Q8TES7 | |
Ensembl transtripts involved in fusion gene | ENST00000207549, ENST00000412096, ENST00000587504, | ENST00000586717, ENST00000319129, ENST00000389570, ENST00000586631, ENST00000588478, | |
Fusion gene scores | * DoF score | 5 X 6 X 6=180 | 1 X 2 X 2=4 |
# samples | 6 | 2 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | LUSC | TCGA-94-8491-01A | UNC13D | chr17 | 73838514 | - | FBF1 | chr17 | 73919719 | - |
TCGA | RV | UCS | TCGA-N5-A4RJ-01A | UNC13D | chr17 | 73826109 | - | FBF1 | chr17 | 73914350 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
In-frame | ENST00000207549 | ENST00000586717 | UNC13D | chr17 | 73838514 | - | FBF1 | chr17 | 73919719 | - |
In-frame | ENST00000207549 | ENST00000319129 | UNC13D | chr17 | 73838514 | - | FBF1 | chr17 | 73919719 | - |
In-frame | ENST00000207549 | ENST00000389570 | UNC13D | chr17 | 73838514 | - | FBF1 | chr17 | 73919719 | - |
5CDS-intron | ENST00000207549 | ENST00000586631 | UNC13D | chr17 | 73838514 | - | FBF1 | chr17 | 73919719 | - |
5CDS-intron | ENST00000207549 | ENST00000588478 | UNC13D | chr17 | 73838514 | - | FBF1 | chr17 | 73919719 | - |
In-frame | ENST00000412096 | ENST00000586717 | UNC13D | chr17 | 73838514 | - | FBF1 | chr17 | 73919719 | - |
In-frame | ENST00000412096 | ENST00000319129 | UNC13D | chr17 | 73838514 | - | FBF1 | chr17 | 73919719 | - |
In-frame | ENST00000412096 | ENST00000389570 | UNC13D | chr17 | 73838514 | - | FBF1 | chr17 | 73919719 | - |
5CDS-intron | ENST00000412096 | ENST00000586631 | UNC13D | chr17 | 73838514 | - | FBF1 | chr17 | 73919719 | - |
5CDS-intron | ENST00000412096 | ENST00000588478 | UNC13D | chr17 | 73838514 | - | FBF1 | chr17 | 73919719 | - |
5UTR-3CDS | ENST00000587504 | ENST00000586717 | UNC13D | chr17 | 73838514 | - | FBF1 | chr17 | 73919719 | - |
5UTR-3CDS | ENST00000587504 | ENST00000319129 | UNC13D | chr17 | 73838514 | - | FBF1 | chr17 | 73919719 | - |
5UTR-3CDS | ENST00000587504 | ENST00000389570 | UNC13D | chr17 | 73838514 | - | FBF1 | chr17 | 73919719 | - |
5UTR-intron | ENST00000587504 | ENST00000586631 | UNC13D | chr17 | 73838514 | - | FBF1 | chr17 | 73919719 | - |
5UTR-intron | ENST00000587504 | ENST00000588478 | UNC13D | chr17 | 73838514 | - | FBF1 | chr17 | 73919719 | - |
In-frame | ENST00000207549 | ENST00000586717 | UNC13D | chr17 | 73826109 | - | FBF1 | chr17 | 73914350 | - |
In-frame | ENST00000207549 | ENST00000319129 | UNC13D | chr17 | 73826109 | - | FBF1 | chr17 | 73914350 | - |
In-frame | ENST00000207549 | ENST00000389570 | UNC13D | chr17 | 73826109 | - | FBF1 | chr17 | 73914350 | - |
5CDS-intron | ENST00000207549 | ENST00000586631 | UNC13D | chr17 | 73826109 | - | FBF1 | chr17 | 73914350 | - |
5CDS-intron | ENST00000207549 | ENST00000588478 | UNC13D | chr17 | 73826109 | - | FBF1 | chr17 | 73914350 | - |
In-frame | ENST00000412096 | ENST00000586717 | UNC13D | chr17 | 73826109 | - | FBF1 | chr17 | 73914350 | - |
In-frame | ENST00000412096 | ENST00000319129 | UNC13D | chr17 | 73826109 | - | FBF1 | chr17 | 73914350 | - |
In-frame | ENST00000412096 | ENST00000389570 | UNC13D | chr17 | 73826109 | - | FBF1 | chr17 | 73914350 | - |
5CDS-intron | ENST00000412096 | ENST00000586631 | UNC13D | chr17 | 73826109 | - | FBF1 | chr17 | 73914350 | - |
5CDS-intron | ENST00000412096 | ENST00000588478 | UNC13D | chr17 | 73826109 | - | FBF1 | chr17 | 73914350 | - |
intron-3CDS | ENST00000587504 | ENST00000586717 | UNC13D | chr17 | 73826109 | - | FBF1 | chr17 | 73914350 | - |
intron-3CDS | ENST00000587504 | ENST00000319129 | UNC13D | chr17 | 73826109 | - | FBF1 | chr17 | 73914350 | - |
intron-3CDS | ENST00000587504 | ENST00000389570 | UNC13D | chr17 | 73826109 | - | FBF1 | chr17 | 73914350 | - |
intron-intron | ENST00000587504 | ENST00000586631 | UNC13D | chr17 | 73826109 | - | FBF1 | chr17 | 73914350 | - |
intron-intron | ENST00000587504 | ENST00000588478 | UNC13D | chr17 | 73826109 | - | FBF1 | chr17 | 73914350 | - |
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FusionProtFeatures for UNC13D_FBF1 |
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Hgene | Tgene |
UNC13D | FBF1 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | UNC13D | chr17:73826109 | chr17:73914350 | ENST00000207549 | - | 30 | 32 | 557_677 | 984 | 1091 | Domain | MHD1 |
Hgene | UNC13D | chr17:73826109 | chr17:73914350 | ENST00000207549 | - | 30 | 32 | 788_895 | 984 | 1091 | Domain | MHD2 |
Hgene | UNC13D | chr17:73826109 | chr17:73914350 | ENST00000207549 | - | 30 | 32 | 98_221 | 984 | 1091 | Domain | C2 1 |
Hgene | UNC13D | chr17:73826109 | chr17:73914350 | ENST00000412096 | - | 30 | 33 | 557_677 | 984 | 1143 | Domain | MHD1 |
Hgene | UNC13D | chr17:73826109 | chr17:73914350 | ENST00000412096 | - | 30 | 33 | 788_895 | 984 | 1143 | Domain | MHD2 |
Hgene | UNC13D | chr17:73826109 | chr17:73914350 | ENST00000412096 | - | 30 | 33 | 98_221 | 984 | 1143 | Domain | C2 1 |
Tgene | >FBF1 | chr17:73826109 | chr17:73914350 | ENST00000319129 | - | 18 | 29 | 773_870 | 697 | 1134 | Coiled coil | Ontology_term=ECO:0000255 |
Tgene | >FBF1 | chr17:73826109 | chr17:73914350 | ENST00000586717 | - | 18 | 29 | 773_870 | 698 | 1134 | Coiled coil | Ontology_term=ECO:0000255 |
Tgene | >FBF1 | chr17:73838514 | chr17:73919719 | ENST00000319129 | - | 11 | 29 | 577_727 | 308 | 1134 | Coiled coil | Ontology_term=ECO:0000255 |
Tgene | >FBF1 | chr17:73838514 | chr17:73919719 | ENST00000319129 | - | 11 | 29 | 773_870 | 308 | 1134 | Coiled coil | Ontology_term=ECO:0000255 |
Tgene | >FBF1 | chr17:73838514 | chr17:73919719 | ENST00000586717 | - | 11 | 29 | 577_727 | 308 | 1134 | Coiled coil | Ontology_term=ECO:0000255 |
Tgene | >FBF1 | chr17:73838514 | chr17:73919719 | ENST00000586717 | - | 11 | 29 | 773_870 | 308 | 1134 | Coiled coil | Ontology_term=ECO:0000255 |
Tgene | >FBF1 | chr17:73826109 | chr17:73914350 | ENST00000319129 | - | 18 | 29 | 999_1045 | 697 | 1134 | Compositional bias | Note=Gln-rich |
Tgene | >FBF1 | chr17:73826109 | chr17:73914350 | ENST00000586717 | - | 18 | 29 | 999_1045 | 698 | 1134 | Compositional bias | Note=Gln-rich |
Tgene | >FBF1 | chr17:73838514 | chr17:73919719 | ENST00000319129 | - | 11 | 29 | 999_1045 | 308 | 1134 | Compositional bias | Note=Gln-rich |
Tgene | >FBF1 | chr17:73838514 | chr17:73919719 | ENST00000586717 | - | 11 | 29 | 999_1045 | 308 | 1134 | Compositional bias | Note=Gln-rich |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | >UNC13D | chr17:73826109 | chr17:73914350 | ENST00000207549 | - | 30 | 32 | 912_1019 | 984 | 1091 | Domain | C2 2 |
Hgene | >UNC13D | chr17:73826109 | chr17:73914350 | ENST00000412096 | - | 30 | 33 | 912_1019 | 984 | 1143 | Domain | C2 2 |
Hgene | >UNC13D | chr17:73838514 | chr17:73919719 | ENST00000207549 | - | 6 | 32 | 557_677 | 189 | 1091 | Domain | MHD1 |
Hgene | >UNC13D | chr17:73838514 | chr17:73919719 | ENST00000207549 | - | 6 | 32 | 788_895 | 189 | 1091 | Domain | MHD2 |
Hgene | >UNC13D | chr17:73838514 | chr17:73919719 | ENST00000207549 | - | 6 | 32 | 912_1019 | 189 | 1091 | Domain | C2 2 |
Hgene | >UNC13D | chr17:73838514 | chr17:73919719 | ENST00000207549 | - | 6 | 32 | 98_221 | 189 | 1091 | Domain | C2 1 |
Hgene | >UNC13D | chr17:73838514 | chr17:73919719 | ENST00000412096 | - | 6 | 33 | 557_677 | 189 | 1143 | Domain | MHD1 |
Hgene | >UNC13D | chr17:73838514 | chr17:73919719 | ENST00000412096 | - | 6 | 33 | 788_895 | 189 | 1143 | Domain | MHD2 |
Hgene | >UNC13D | chr17:73838514 | chr17:73919719 | ENST00000412096 | - | 6 | 33 | 912_1019 | 189 | 1143 | Domain | C2 2 |
Hgene | >UNC13D | chr17:73838514 | chr17:73919719 | ENST00000412096 | - | 6 | 33 | 98_221 | 189 | 1143 | Domain | C2 1 |
Tgene | FBF1 | chr17:73826109 | chr17:73914350 | ENST00000319129 | - | 18 | 29 | 577_727 | 697 | 1134 | Coiled coil | Ontology_term=ECO:0000255 |
Tgene | FBF1 | chr17:73826109 | chr17:73914350 | ENST00000586717 | - | 18 | 29 | 577_727 | 698 | 1134 | Coiled coil | Ontology_term=ECO:0000255 |
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FusionGeneSequence for UNC13D_FBF1 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
UNC13D | RAB27A, LMNA, XRN2, VPS37B, CUL5, ANXA5, DPYSL2, AACS, G6PD, PICALM | FBF1 | CALCOCO2, 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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
Hgene | UNC13D | chr17:73826109 | chr17:73914350 | ENST00000207549 | - | 30 | 32 | 240_543 | 984 | 1091 | RAB27A |
Hgene | UNC13D | chr17:73826109 | chr17:73914350 | ENST00000412096 | - | 30 | 33 | 240_543 | 984 | 1143 | RAB27A |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Hgene | UNC13D | chr17:73838514 | chr17:73919719 | ENST00000207549 | - | 6 | 32 | 240_543 | 189 | 1091 | RAB27A |
Hgene | UNC13D | chr17:73838514 | chr17:73919719 | ENST00000412096 | - | 6 | 33 | 240_543 | 189 | 1143 | RAB27A |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for UNC13D_FBF1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for UNC13D_FBF1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |