Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:FGFR3-TPRG1 (FusionGDB2 ID:HG2261TG285386)

Fusion Gene Summary for FGFR3-TPRG1

check button Fusion gene summary
Fusion gene informationFusion gene name: FGFR3-TPRG1
Fusion gene ID: hg2261tg285386
HgeneTgene
Gene symbol

FGFR3

TPRG1

Gene ID

2261

285386

Gene namefibroblast growth factor receptor 3tumor protein p63 regulated 1
SynonymsACH|CD333|CEK2|HSFGFR3EX|JTK4FAM79B
Cytomap('FGFR3')('TPRG1')

4p16.3

3q28

Type of geneprotein-codingprotein-coding
Descriptionfibroblast growth factor receptor 3FGFR-3fibroblast growth factor receptor 3 variant 4fibroblast growth factor receptor 3-Shydroxyaryl-protein kinasetyrosine kinase JTK4tumor protein p63-regulated gene 1 proteinfamily with sequence similarity 79, member B
Modification date2020031320200313
UniProtAcc

P22607

.
Ensembl transtripts involved in fusion geneENST00000260795, ENST00000340107, 
ENST00000352904, ENST00000412135, 
ENST00000440486, ENST00000481110, 
ENST00000474521, 
Fusion gene scores* DoF score10 X 22 X 14=308012 X 7 X 6=504
# samples 3316
** MAII scorelog2(33/3080*10)=-3.22239242133645
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/504*10)=-1.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FGFR3 [Title/Abstract] AND TPRG1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFGFR3(1795770)-TPRG1(189028175), # samples:1
Anticipated loss of major functional domain due to fusion event.FGFR3-TPRG1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
FGFR3-TPRG1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
FGFR3-TPRG1 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF.
* 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
HgeneFGFR3

GO:0008543

fibroblast growth factor receptor signaling pathway

8663044

HgeneFGFR3

GO:0018108

peptidyl-tyrosine phosphorylation

11294897

HgeneFGFR3

GO:0046777

protein autophosphorylation

11294897



check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4HNSCTCGA-CV-7177-01AFGFR3chr4

1795770

-TPRG1chr3

189028175

+


Top

Fusion Gene ORF analysis for FGFR3-TPRG1

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
5CDS-intronENST00000260795ENST00000488841FGFR3chr4

1795770

-TPRG1chr3

189028175

+
5CDS-intronENST00000340107ENST00000488841FGFR3chr4

1795770

-TPRG1chr3

189028175

+
5CDS-intronENST00000352904ENST00000488841FGFR3chr4

1795770

-TPRG1chr3

189028175

+
5CDS-intronENST00000412135ENST00000488841FGFR3chr4

1795770

-TPRG1chr3

189028175

+
5CDS-intronENST00000440486ENST00000488841FGFR3chr4

1795770

-TPRG1chr3

189028175

+
5CDS-intronENST00000481110ENST00000488841FGFR3chr4

1795770

-TPRG1chr3

189028175

+
Frame-shiftENST00000260795ENST00000345063FGFR3chr4

1795770

-TPRG1chr3

189028175

+
Frame-shiftENST00000260795ENST00000433971FGFR3chr4

1795770

-TPRG1chr3

189028175

+
Frame-shiftENST00000340107ENST00000345063FGFR3chr4

1795770

-TPRG1chr3

189028175

+
Frame-shiftENST00000340107ENST00000433971FGFR3chr4

1795770

-TPRG1chr3

189028175

+
Frame-shiftENST00000352904ENST00000345063FGFR3chr4

1795770

-TPRG1chr3

189028175

+
Frame-shiftENST00000352904ENST00000433971FGFR3chr4

1795770

-TPRG1chr3

189028175

+
Frame-shiftENST00000412135ENST00000345063FGFR3chr4

1795770

-TPRG1chr3

189028175

+
Frame-shiftENST00000412135ENST00000433971FGFR3chr4

1795770

-TPRG1chr3

189028175

+
Frame-shiftENST00000440486ENST00000345063FGFR3chr4

1795770

-TPRG1chr3

189028175

+
Frame-shiftENST00000440486ENST00000433971FGFR3chr4

1795770

-TPRG1chr3

189028175

+
Frame-shiftENST00000481110ENST00000345063FGFR3chr4

1795770

-TPRG1chr3

189028175

+
Frame-shiftENST00000481110ENST00000433971FGFR3chr4

1795770

-TPRG1chr3

189028175

+
intron-3CDSENST00000474521ENST00000345063FGFR3chr4

1795770

-TPRG1chr3

189028175

+
intron-3CDSENST00000474521ENST00000433971FGFR3chr4

1795770

-TPRG1chr3

189028175

+
intron-intronENST00000474521ENST00000488841FGFR3chr4

1795770

-TPRG1chr3

189028175

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

Top

Fusion Genomic Features for FGFR3-TPRG1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


Top

Fusion Protein Features for FGFR3-TPRG1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:1795770/:189028175)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FGFR3

P22607

.
FUNCTION: Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis. Plays an essential role in the regulation of chondrocyte differentiation, proliferation and apoptosis, and is required for normal skeleton development. Regulates both osteogenesis and postnatal bone mineralization by osteoblasts. Promotes apoptosis in chondrocytes, but can also promote cancer cell proliferation. Required for normal development of the inner ear. Phosphorylates PLCG1, CBL and FRS2. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Plays a role in the regulation of vitamin D metabolism. Mutations that lead to constitutive kinase activation or impair normal FGFR3 maturation, internalization and degradation lead to aberrant signaling. Over-expressed or constitutively activated FGFR3 promotes activation of PTPN11/SHP2, STAT1, STAT5A and STAT5B. Secreted isoform 3 retains its capacity to bind FGF1 and FGF2 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}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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


Top

Fusion Gene Sequence for FGFR3-TPRG1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

Top

Fusion Gene PPI Analysis for FGFR3-TPRG1


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


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


Top

Related Drugs for FGFR3-TPRG1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneFGFR3P22607DB06589PazopanibInhibitorSmall moleculeApproved
HgeneFGFR3P22607DB06589PazopanibInhibitorSmall moleculeApproved
HgeneFGFR3P22607DB09079NintedanibInhibitorSmall moleculeApproved
HgeneFGFR3P22607DB09079NintedanibInhibitorSmall moleculeApproved
HgeneFGFR3P22607DB08901PonatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB08901PonatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB09078LenvatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB09078LenvatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB12147ErdafitinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB12147ErdafitinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB15102PemigatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB15102PemigatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB15685SelpercatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB15685SelpercatinibInhibitorSmall moleculeApproved|Investigational

Top

Related Diseases for FGFR3-TPRG1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFGFR3C0001080Achondroplasia13CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR3C0410529Hypochondroplasia (disorder)10CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR3C1864436Muenke Syndrome9CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR3C1868678THANATOPHORIC DYSPLASIA, TYPE I (disorder)9CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneFGFR3C2677099CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)7CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneFGFR3C0005684Malignant neoplasm of urinary bladder6CGI;CTD_human;UNIPROT
HgeneFGFR3C0005695Bladder Neoplasm4CGI;CTD_human
HgeneFGFR3C1300257Thanatophoric dysplasia, type 24CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneFGFR3C1864852CATSHL syndrome4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR3C2674173Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR3C0265269Lacrimoauriculodentodigital syndrome2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR3C0007138Carcinoma, Transitional Cell1CTD_human
HgeneFGFR3C0008924Cleft upper lip1CTD_human
HgeneFGFR3C0008925Cleft Palate1CTD_human
HgeneFGFR3C0014544Epilepsy1GENOMICS_ENGLAND
HgeneFGFR3C0014547Epilepsies, Partial1GENOMICS_ENGLAND
HgeneFGFR3C0022603Seborrheic keratosis1UNIPROT
HgeneFGFR3C0026764Multiple Myeloma1CGI;CTD_human
HgeneFGFR3C0036631Seminoma1CTD_human
HgeneFGFR3C0039743Thanatophoric Dysplasia1CTD_human
HgeneFGFR3C0152423Congenital small ears1GENOMICS_ENGLAND
HgeneFGFR3C0206726gliosarcoma1ORPHANET
HgeneFGFR3C0221356Brachycephaly1ORPHANET
HgeneFGFR3C0265529Plagiocephaly1ORPHANET
HgeneFGFR3C0334082NEVUS, EPIDERMAL (disorder)1CTD_human;UNIPROT
HgeneFGFR3C0334588Giant Cell Glioblastoma1ORPHANET
HgeneFGFR3C0406803Syringocystadenoma Papilliferum1GENOMICS_ENGLAND
HgeneFGFR3C1336708Testicular Germ Cell Tumor1CTD_human;UNIPROT
HgeneFGFR3C1837218Cleft palate, isolated1CTD_human
HgeneFGFR3C4048328cervical cancer1CTD_human;UNIPROT