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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: 37047

FusionGeneSummary for TACC3_FGFR3

check button Fusion gene summary
Fusion gene informationFusion gene name: TACC3_FGFR3
Fusion gene ID: 37047
HgeneTgene
Gene symbol

TACC3

FGFR3

Gene ID

10460

2261

Gene nametransforming acidic coiled-coil containing protein 3fibroblast growth factor receptor 3
SynonymsERIC-1|ERIC1ACH|CD333|CEK2|HSFGFR3EX|JTK4
Cytomap

4p16.3

4p16.3

Type of geneprotein-codingprotein-coding
Descriptiontransforming acidic coiled-coil-containing protein 3fibroblast growth factor receptor 3FGFR-3fibroblast growth factor receptor 3 variant 4hydroxyaryl-protein kinasetyrosine kinase JTK4
Modification date2018052320180523
UniProtAcc

Q9Y6A5

P22607

Ensembl transtripts involved in fusion geneENST00000313288, ENST00000481110, 
ENST00000440486, ENST00000412135, 
ENST00000340107, ENST00000260795, 
ENST00000352904, ENST00000474521, 
Fusion gene scores* DoF score2 X 5 X 5=503 X 6 X 6=108
# samples 56
** MAII scorelog2(5/50*10)=0log2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TACC3 [Title/Abstract] AND FGFR3 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationOncogene involved fusion gene, in-frame and retained their domain.
Kinase involved fusion gene, inframe and retained kinase domain.
* 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
TgeneFGFR3

GO:0008543

fibroblast growth factor receptor signaling pathway

8663044

TgeneFGFR3

GO:0018108

peptidyl-tyrosine phosphorylation

11294897

TgeneFGFR3

GO:0046777

protein autophosphorylation

11294897


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
TCGALDCESCTCGA-WL-A834-01ATACC3chr4

1737559

+FGFR3chr4

1803092

+
TCGALDGBMTCGA-27-1835-01ATACC3chr4

1741494

+FGFR3chr4

1808629

+
TCGALDLGGTCGA-P5-A72U-01ATACC3chr4

1737035

+FGFR3chr4

1808585

+
TCGALDLUSCTCGA-66-2786-01ATACC3chr4

1741455

+FGFR3chr4

1808373

+
* 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-shiftENST00000313288ENST00000481110TACC3chr4

1737559

+FGFR3chr4

1803092

+
Frame-shiftENST00000313288ENST00000440486TACC3chr4

1737559

+FGFR3chr4

1803092

+
Frame-shiftENST00000313288ENST00000412135TACC3chr4

1737559

+FGFR3chr4

1803092

+
Frame-shiftENST00000313288ENST00000340107TACC3chr4

1737559

+FGFR3chr4

1803092

+
Frame-shiftENST00000313288ENST00000260795TACC3chr4

1737559

+FGFR3chr4

1803092

+
Frame-shiftENST00000313288ENST00000352904TACC3chr4

1737559

+FGFR3chr4

1803092

+
5CDS-intronENST00000313288ENST00000474521TACC3chr4

1737559

+FGFR3chr4

1803092

+
Frame-shiftENST00000313288ENST00000481110TACC3chr4

1741494

+FGFR3chr4

1808629

+
In-frameENST00000313288ENST00000440486TACC3chr4

1741494

+FGFR3chr4

1808629

+
In-frameENST00000313288ENST00000412135TACC3chr4

1741494

+FGFR3chr4

1808629

+
In-frameENST00000313288ENST00000340107TACC3chr4

1741494

+FGFR3chr4

1808629

+
In-frameENST00000313288ENST00000260795TACC3chr4

1741494

+FGFR3chr4

1808629

+
In-frameENST00000313288ENST00000352904TACC3chr4

1741494

+FGFR3chr4

1808629

+
5CDS-intronENST00000313288ENST00000474521TACC3chr4

1741494

+FGFR3chr4

1808629

+
In-frameENST00000313288ENST00000481110TACC3chr4

1737035

+FGFR3chr4

1808585

+
Frame-shiftENST00000313288ENST00000440486TACC3chr4

1737035

+FGFR3chr4

1808585

+
Frame-shiftENST00000313288ENST00000412135TACC3chr4

1737035

+FGFR3chr4

1808585

+
Frame-shiftENST00000313288ENST00000340107TACC3chr4

1737035

+FGFR3chr4

1808585

+
Frame-shiftENST00000313288ENST00000260795TACC3chr4

1737035

+FGFR3chr4

1808585

+
Frame-shiftENST00000313288ENST00000352904TACC3chr4

1737035

+FGFR3chr4

1808585

+
5CDS-intronENST00000313288ENST00000474521TACC3chr4

1737035

+FGFR3chr4

1808585

+
Frame-shiftENST00000313288ENST00000481110TACC3chr4

1741455

+FGFR3chr4

1808373

+
In-frameENST00000313288ENST00000440486TACC3chr4

1741455

+FGFR3chr4

1808373

+
In-frameENST00000313288ENST00000412135TACC3chr4

1741455

+FGFR3chr4

1808373

+
In-frameENST00000313288ENST00000340107TACC3chr4

1741455

+FGFR3chr4

1808373

+
In-frameENST00000313288ENST00000260795TACC3chr4

1741455

+FGFR3chr4

1808373

+
In-frameENST00000313288ENST00000352904TACC3chr4

1741455

+FGFR3chr4

1808373

+
5CDS-intronENST00000313288ENST00000474521TACC3chr4

1741455

+FGFR3chr4

1808373

+

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FusionProtFeatures for TACC3_FGFR3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TACC3

Q9Y6A5

FGFR3

P22607

Plays a role in the microtubule-dependent coupling ofthe nucleus and the centrosome. Involved in the processes thatregulate centrosome-mediated interkinetic nuclear migration (INM)of neural progenitors (By similarity). Acts as component of theTACC3/ch-TOG/clathrin complex proposed to contribute tostabilization of kinetochore fibers of the mitotic spindle byacting as inter-microtubule bridge. The TACC3/ch-TOG/clathrincomplex is required for the maintenance of kinetochore fibertension (PubMed:21297582, PubMed:23532825). May be involved in thecontrol of cell growth and differentiation. May contribute tocancer (PubMed:14767476). {ECO:0000250|UniProtKB:Q9JJ11,ECO:0000269|PubMed:14767476, ECO:0000269|PubMed:21297582,ECO:0000269|PubMed:23532825}. Tyrosine-protein kinase that acts as cell-surfacereceptor for fibroblast growth factors and plays an essential rolein the regulation of cell proliferation, differentiation andapoptosis. Plays an essential role in the regulation ofchondrocyte differentiation, proliferation and apoptosis, and isrequired for normal skeleton development. Regulates bothosteogenesis and postnatal bone mineralization by osteoblasts.Promotes apoptosis in chondrocytes, but can also promote cancercell proliferation. Required for normal development of the innerear. Phosphorylates PLCG1, CBL and FRS2. Ligand binding leads tothe activation of several signaling cascades. Activation of PLCG1leads to the production of the cellular signaling moleculesdiacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylationof FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, andmediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAPkinase signaling pathway, as well as of the AKT1 signalingpathway. Plays a role in the regulation of vitamin D metabolism.Mutations that lead to constitutive kinase activation or impairnormal FGFR3 maturation, internalization and degradation lead toaberrant signaling. Over-expressed or constitutively activatedFGFR3 promotes activation of PTPN11/SHP2, STAT1, STAT5A andSTAT5B. Secreted isoform 3 retains its capacity to bind FGF1 andFGF2 and hence may interfere with FGF signaling.{ECO:0000269|PubMed:10611230, ECO:0000269|PubMed:11294897,ECO:0000269|PubMed:11703096, ECO:0000269|PubMed:14534538,ECO:0000269|PubMed:16410555, ECO:0000269|PubMed:16597617,ECO:0000269|PubMed:17145761, ECO:0000269|PubMed:17311277,ECO:0000269|PubMed:17509076, ECO:0000269|PubMed:17561467,ECO:0000269|PubMed:19088846, ECO:0000269|PubMed:19286672,ECO:0000269|PubMed:8663044}.

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
TgeneFGFR3chr4:1737035chr4:1808585ENST00000260795+017151_244-34807DomainNote=Ig-like C2-type 2
TgeneFGFR3chr4:1737035chr4:1808585ENST00000260795+01724_126-34807DomainNote=Ig-like C2-type 1
TgeneFGFR3chr4:1737035chr4:1808585ENST00000260795+017253_355-34807DomainNote=Ig-like C2-type 3
TgeneFGFR3chr4:1737035chr4:1808585ENST00000260795+017472_761-34807DomainProtein kinase
TgeneFGFR3chr4:1737035chr4:1808585ENST00000340107+018151_244-86809DomainNote=Ig-like C2-type 2
TgeneFGFR3chr4:1737035chr4:1808585ENST00000340107+01824_126-86809DomainNote=Ig-like C2-type 1
TgeneFGFR3chr4:1737035chr4:1808585ENST00000340107+018253_355-86809DomainNote=Ig-like C2-type 3
TgeneFGFR3chr4:1737035chr4:1808585ENST00000340107+018472_761-86809DomainProtein kinase
TgeneFGFR3chr4:1737035chr4:1808585ENST00000352904+015151_244-13695DomainNote=Ig-like C2-type 2
TgeneFGFR3chr4:1737035chr4:1808585ENST00000352904+01524_126-13695DomainNote=Ig-like C2-type 1
TgeneFGFR3chr4:1737035chr4:1808585ENST00000352904+015253_355-13695DomainNote=Ig-like C2-type 3
TgeneFGFR3chr4:1737035chr4:1808585ENST00000352904+015472_761-13695DomainProtein kinase
TgeneFGFR3chr4:1737035chr4:1808585ENST00000412135+016151_244-86695DomainNote=Ig-like C2-type 2
TgeneFGFR3chr4:1737035chr4:1808585ENST00000412135+01624_126-86695DomainNote=Ig-like C2-type 1
TgeneFGFR3chr4:1737035chr4:1808585ENST00000412135+016253_355-86695DomainNote=Ig-like C2-type 3
TgeneFGFR3chr4:1737035chr4:1808585ENST00000412135+016472_761-86695DomainProtein kinase
TgeneFGFR3chr4:1737035chr4:1808585ENST00000440486+018151_244-86807DomainNote=Ig-like C2-type 2
TgeneFGFR3chr4:1737035chr4:1808585ENST00000440486+01824_126-86807DomainNote=Ig-like C2-type 1
TgeneFGFR3chr4:1737035chr4:1808585ENST00000440486+018253_355-86807DomainNote=Ig-like C2-type 3
TgeneFGFR3chr4:1737035chr4:1808585ENST00000440486+018472_761-86807DomainProtein kinase
TgeneFGFR3chr4:1737035chr4:1808585ENST00000260795+017478_486-34807Nucleotide bindingATP
TgeneFGFR3chr4:1737035chr4:1808585ENST00000340107+018478_486-86809Nucleotide bindingATP
TgeneFGFR3chr4:1737035chr4:1808585ENST00000352904+015478_486-13695Nucleotide bindingATP
TgeneFGFR3chr4:1737035chr4:1808585ENST00000412135+016478_486-86695Nucleotide bindingATP
TgeneFGFR3chr4:1737035chr4:1808585ENST00000440486+018478_486-86807Nucleotide bindingATP
TgeneFGFR3chr4:1737035chr4:1808585ENST00000260795+01723_375-34807Topological domainExtracellular
TgeneFGFR3chr4:1737035chr4:1808585ENST00000260795+017397_806-34807Topological domainCytoplasmic
TgeneFGFR3chr4:1737035chr4:1808585ENST00000340107+01823_375-86809Topological domainExtracellular
TgeneFGFR3chr4:1737035chr4:1808585ENST00000340107+018397_806-86809Topological domainCytoplasmic
TgeneFGFR3chr4:1737035chr4:1808585ENST00000352904+01523_375-13695Topological domainExtracellular
TgeneFGFR3chr4:1737035chr4:1808585ENST00000352904+015397_806-13695Topological domainCytoplasmic
TgeneFGFR3chr4:1737035chr4:1808585ENST00000412135+01623_375-86695Topological domainExtracellular
TgeneFGFR3chr4:1737035chr4:1808585ENST00000412135+016397_806-86695Topological domainCytoplasmic
TgeneFGFR3chr4:1737035chr4:1808585ENST00000440486+01823_375-86807Topological domainExtracellular
TgeneFGFR3chr4:1737035chr4:1808585ENST00000440486+018397_806-86807Topological domainCytoplasmic
TgeneFGFR3chr4:1737035chr4:1808585ENST00000260795+017376_396-34807TransmembraneHelical
TgeneFGFR3chr4:1737035chr4:1808585ENST00000340107+018376_396-86809TransmembraneHelical
TgeneFGFR3chr4:1737035chr4:1808585ENST00000352904+015376_396-13695TransmembraneHelical
TgeneFGFR3chr4:1737035chr4:1808585ENST00000412135+016376_396-86695TransmembraneHelical
TgeneFGFR3chr4:1737035chr4:1808585ENST00000440486+018376_396-86807TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTACC3chr4:1737035chr4:1808585ENST00000313288+116637_837-36839Coiled coilOntology_term=ECO:0000255
HgeneTACC3chr4:1737035chr4:1808585ENST00000313288+116155_160-36839Compositional biasNote=Poly-Ser
HgeneTACC3chr4:1737035chr4:1808585ENST00000313288+116522_577-36839RegionNecessary but not sufficient for spindle localization
HgeneTACC3chr4:1737035chr4:1808585ENST00000313288+116594_838-36839RegionNecessary but not sufficient for spindle localization


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FusionGeneSequence for TACC3_FGFR3


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 TACC3_FGFR3


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
TACC3AKAP9, TTF2, NDEL1, MBD2, CKAP5, KAT2A, KAT2B, RAE1, AHCYL1, SRXN1, SEC23A, RAD23B, CPLX1, UBA2, RAD23A, RAB14, SSSCA1, PAICS, SEC24A, AURKA, ARNT2, VPS37C, TBC1D22B, KIZ, ASPSCR1, CIB3, SNX20, FZR1, SNAP29, PLEKHO2, C17orf59, MRE11A, NTRK1, ADAR, CALD1, CUX1, KIF11, PCDH7, VASP, SLBP, NFS1, XPR1, DHRS2, ZER1, SLAIN2, ARX, BOD1L1, ORC3, ENAH, METTL14, RNF123, PDF, PANK2, RNF135, KIAA1804, PRMT9, DEPDC7, RNF168, WDR90, C2orf69, PRR14L, FRYL, FAM111B, MIA3, CRISP2, CORO6, SPERT, EVL, HSPA8, MVK, HSPBP1, OIP5, GTF2E2, ZFC3H1, CDC27FGFR3C6orf47, SMG7, BORA, CCDC17, HBZ, HNRNPL, NDUFS6, RNF130, ATF3, ARAP1, CHGB, CTSK, RADIL, GTF3C1, KRT8, POLA2, KIAA1377, RPL8, SLC25A6, SH2B1, FGF9, FGF1, GRB2, FGF8, HSP90AA1, HSP90AB1, HSPA1B, HSPA8, CDC37, HSPA4, SOCS1, SOCS3, FGFR3, SNX11, TMEM231, ILKAP, SRPK2, PVRL1, BRD4, VHL, FNTA, CDK6, FGFR2, TMEM30B, ARRDC3, SDC2


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 TACC3_FGFR3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneFGFR3P22607DB00039PaliferminFibroblast growth factor receptor 3biotechapproved
TgeneFGFR3P22607DB06589PazopanibFibroblast growth factor receptor 3small moleculeapproved
TgeneFGFR3P22607DB09079NintedanibFibroblast growth factor receptor 3small moleculeapproved
TgeneFGFR3P22607DB08901PonatinibFibroblast growth factor receptor 3small moleculeapproved|investigational
TgeneFGFR3P22607DB09078LenvatinibFibroblast growth factor receptor 3small moleculeapproved|investigational

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RelatedDiseases for TACC3_FGFR3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTACC3C0005695Bladder Neoplasm1CTD_human
HgeneTACC3C0007138Carcinoma, Transitional Cell1CTD_human
TgeneFGFR3C0022603Seborrheic keratosis21UNIPROT
TgeneFGFR3C0001080Achondroplasia8CTD_human;ORPHANET;UNIPROT
TgeneFGFR3C0410529Hypochondroplasia (disorder)8CTD_human;ORPHANET;UNIPROT
TgeneFGFR3C0334082NEVUS, EPIDERMAL (disorder)7CTD_human;UNIPROT
TgeneFGFR3C0005695Bladder Neoplasm4CTD_human
TgeneFGFR3C1864436Muenke Syndrome4CTD_human;ORPHANET;UNIPROT
TgeneFGFR3C0005684Malignant neoplasm of urinary bladder3UNIPROT
TgeneFGFR3C2677099CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)3CTD_human;ORPHANET;UNIPROT
TgeneFGFR3C0007138Carcinoma, Transitional Cell1CTD_human
TgeneFGFR3C0008924Cleft Lip1CTD_human
TgeneFGFR3C0008925Cleft Palate1CTD_human
TgeneFGFR3C0026764Multiple Myeloma1CTD_human
TgeneFGFR3C0036631Seminoma1CTD_human
TgeneFGFR3C0039743Thanatophoric Dysplasia1CTD_human
TgeneFGFR3C0265269Lacrimoauriculodentodigital syndrome1CTD_human;ORPHANET;UNIPROT
TgeneFGFR3C1864852CATSHL syndrome1CTD_human;ORPHANET;UNIPROT