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Center for Computational Systems Medicine
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Kinase Fusion Gene Summary

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Kinase Fusion Gene Sample Information

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Kinase Fusion ORF Analysis

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Kinase Fusion Amino Acid Sequences

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Multiple Sequence Alignment of All Fusion Protein Isoforms

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Kinase Fusion Protein Functional Features

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Kinase Fusion Protein Structures

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Comparison of Fusion Protein Isoforms

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Comparison of Fusion Protein Sequences/Structures with Known Sequences/Structures from PDB

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pLDDT Scores and Difference Analysis of pLDDT Scores Between the Active Sites (Best) and Non-Active Sites.

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Ramachandran Plot of Kinase Fusion Protein Structure

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Potential Active Site Information

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Virtual Screening Results

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Kinase-Substrate Information

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Related Drugs with This Kinase Fusion Protein

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Related Disease with This Kinase Fusion Protein

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Clinical Trials of the Found Drugs/Small Molecules

Kinase Fusion Gene:FAM193A_FGFR3

Kinase Fusion Protein Summary

check button Kinase Fusion gene summary
Kinase Fusion partner gene informationKinase Fusion gene name: FAM193A_FGFR3
KinaseFusionDB ID: KFG2233
FusionGDB2.0 ID: KFG2233
HgeneTgene
Gene symbol

FAM193A

FGFR3

Gene ID

8603

2261

Gene namefamily with sequence similarity 193 member Afibroblast growth factor receptor 3
SynonymsC4orf8|RES4-22ACH|CD333|CEK2|HSFGFR3EX|JTK4
Cytomap

4p16.3

4p16.3

Type of geneprotein-codingprotein-coding
Descriptionprotein FAM193Afibroblast growth factor receptor 3FGFR-3fibroblast growth factor receptor 3-Shydroxyaryl-protein kinasetyrosine kinase JTK4
Modification date2024040320240413
UniProtAcc

P78312

P22607

Ensembl transtripts involved in fusion geneENST idsENST00000324666, ENST00000382839, 
ENST00000502458, ENST00000505311, 
ENST00000545951, 		ENST00000260795, 
ENST00000340107, ENST00000352904, 
ENST00000412135, ENST00000440486, 
ENST00000481110, ENST00000474521, 
Context (manual curation of fusion genes in KinaseFusionDB)

PubMed: FAM193A [Title/Abstract] AND FGFR3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)FAM193A(2538897)-FGFR3(1803347), # samples:1
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


check buttonKinase Fusion gene breakpoints across FAM193A (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonKinase Fusion gene breakpoints across FGFR3 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.


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Kinase Fusion Gene Sample Information

check buttonKinase Fusion gene information.
check button Kinase Fusion gene information from four resources (ChiTars 5.0, ChimerDB 4.0, COSMIC, and CCLE)
* 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.
SourceSampleHgeneHchrHbpTgeneTchrTbp
ChimerDB4TCGA-D9-A1X3-06AFAM193Achr4

2538897

FGFR3chr4

1803347



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Kinase Fusion ORF Analysis


check buttonKinase Fusion information from ORFfinder translation from full-length transcript sequence from KinaseFusionDB.
HenstTenstHgeneHchrHbpTgeneTchrTbpSeq length
(transcript)		Seq length
(amino acids)

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Kinase Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from KinaseFusionDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>Henst_Tenst_Hgene_Hchr_Hbp_Tgene_Tchr_Tbp_length(fusion AA)_AAseq

Multiple Sequence Alignment of All Fusion Protein Isoforms



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Kinase Fusion Protein Functional Features


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/:2538897/:1803347)
- 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
FAM193A

P78312

FGFR3

P22607

FUNCTION: Tyrosine-protein kinase that acts as a 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}.

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.

check button - Retained domain in the 5'-partner of fusion protein (protein functional feature from UniProt).
PartnerHgeneeneHbpTgeneeneTbpENSTBPexonTotalExonProtein feature lociBPlociTotalLenFeatureNote


check button - Retained domain in the 3'-partner of fusion protein (protein functional feature from UniProt).
PartnerHgeneeneHbpTgeneeneTbpENSTBPexonTotalExonProtein feature lociBPlociTotalLenFeatureNote


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Kinase-Substrate Information of FAM193A_FGFR3


check button Phosphorylation target of the kinase
(phosphosite, 03-17-2024)
KinaseKinase UniProt AccKinase speciesSubstrateSubstrate UniProt AccSubstrate phosphorylated residuesSubstrate phosphorylated sites (+/-7AA)Domain
FGFR3P22607humanFGFR3P22607Y724ANCTHDLyMIMRECWPK_Tyr_Ser-Thr
FGFR3P22607humanCTNNB1P35222Y142AVVNLINyQDDAELA
FGFR3P22607humanPTENP60484Y240RREDKFMyFEFPQPLPTEN_C2
FGFR3P22607humanFGFR3P22607Y648DVHNLDyyKKTTNGRPK_Tyr_Ser-Thr
FGFR3P22607humanFGFR3P22607Y647RDVHNLDyyKKTTNGPK_Tyr_Ser-Thr
FGFR3P22607humanGLO1Q04760Y136GIAVPDVysACkRFEGlyoxalase
FGFR3P22607humanTET2Q6N021Y1902TRISLVFyQHKSMNETet_JBP
FGFR3P22607humanRPS6KA3P51812Y529TITKTVEyLHAQGVVPkinase
FGFR3P22607humanCILK1Q9UPZ9Y15RQLGDGtyGsVLLGRPkinase
FGFR3P22607humanRPS6KA3P51812Y488DVyDDGKyVYVVTELPkinase
FGFR3P22607humanSTAT1P42224Y701DGPkGtGyIktELIs


check button Biological Network Integration of This Kinase and Substrates
(GeneMANIA website)

check button Enriched GO biological processes of the phosphorylation target genes of the kinase
KinaseGOIDGO termP.adjust
FGFR3IDDescription0.00e+00
FGFR3GO:0003337mesenchymal to epithelial transition involved in metanephros morphogenesis2.21e-03
FGFR3GO:0072182regulation of nephron tubule epithelial cell differentiation2.21e-03
FGFR3GO:0072160nephron tubule epithelial cell differentiation2.21e-03
FGFR3GO:0072283metanephric renal vesicle morphogenesis2.21e-03
FGFR3GO:0030099myeloid cell differentiation2.21e-03
FGFR3GO:0097091synaptic vesicle clustering2.21e-03
FGFR3GO:2000696regulation of epithelial cell differentiation involved in kidney development2.21e-03
FGFR3GO:0072077renal vesicle morphogenesis2.21e-03
FGFR3GO:0072087renal vesicle development2.21e-03
FGFR3GO:0060231mesenchymal to epithelial transition2.22e-03
FGFR3GO:0048660regulation of smooth muscle cell proliferation2.56e-03
FGFR3GO:0072202cell differentiation involved in metanephros development2.56e-03
FGFR3GO:0048659smooth muscle cell proliferation2.56e-03
FGFR3GO:0072273metanephric nephron morphogenesis2.56e-03
FGFR3GO:0002053positive regulation of mesenchymal cell proliferation2.59e-03
FGFR3GO:0003338metanephros morphogenesis3.77e-03
FGFR3GO:0010464regulation of mesenchymal cell proliferation3.78e-03
FGFR3GO:0033002muscle cell proliferation5.44e-03
FGFR3GO:0072210metanephric nephron development5.58e-03
FGFR3GO:0048762mesenchymal cell differentiation5.82e-03
FGFR3GO:0010463mesenchymal cell proliferation5.82e-03
FGFR3GO:0035850epithelial cell differentiation involved in kidney development6.35e-03
FGFR3GO:0097479synaptic vesicle localization8.02e-03
FGFR3GO:0030857negative regulation of epithelial cell differentiation8.23e-03
FGFR3GO:0061005cell differentiation involved in kidney development8.23e-03
FGFR3GO:0060485mesenchyme development8.54e-03
FGFR3GO:0021700developmental maturation8.54e-03
FGFR3GO:0072088nephron epithelium morphogenesis1.41e-02
FGFR3GO:0072028nephron morphogenesis1.43e-02
FGFR3GO:0051347positive regulation of transferase activity1.49e-02
FGFR3GO:0008543fibroblast growth factor receptor signaling pathway1.51e-02
FGFR3GO:0001656metanephros development1.75e-02
FGFR3GO:0060993kidney morphogenesis1.84e-02
FGFR3GO:0072080nephron tubule development1.86e-02
FGFR3GO:0061326renal tubule development1.92e-02
FGFR3GO:0030316osteoclast differentiation1.92e-02
FGFR3GO:0048709oligodendrocyte differentiation1.92e-02
FGFR3GO:0010717regulation of epithelial to mesenchymal transition2.05e-02
FGFR3GO:0044344cellular response to fibroblast growth factor stimulus2.07e-02
FGFR3GO:0048640negative regulation of developmental growth2.07e-02
FGFR3GO:0002062chondrocyte differentiation2.07e-02
FGFR3GO:0072009nephron epithelium development2.16e-02
FGFR3GO:0021761limbic system development2.17e-02
FGFR3GO:0071774response to fibroblast growth factor2.17e-02
FGFR3GO:0042552myelination2.82e-02
FGFR3GO:0007272ensheathment of neurons2.82e-02
FGFR3GO:0008366axon ensheathment2.82e-02
FGFR3GO:0050768negative regulation of neurogenesis2.82e-02
FGFR3GO:0016525negative regulation of angiogenesis2.82e-02

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Related Drugs to FAM193A_FGFR3


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

check button Distribution of the number of studies mentioning FAM193A-FGFR3 and kinase inhibitors the PubMed Abstract (04-01-2024)

Fusion gene - drug pair 1Fusion gene - drug pair 2PMIDPublication dateDOIStudy title

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Related Diseases to FAM193A_FGFR3


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Related diseases from the literature mentioned this fusion gene and drug.
(PubMed, 04-01-2024)
MeSH IDMeSH term

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneFGFR3C0001080Achondroplasia13CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneFGFR3C0410529Hypochondroplasia (disorder)10CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneFGFR3C1864436Muenke Syndrome9CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneFGFR3C1868678THANATOPHORIC DYSPLASIA, TYPE I (disorder)9CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneFGFR3C2677099CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)7CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneFGFR3C0005684Malignant neoplasm of urinary bladder6CGI;CTD_human;UNIPROT
TgeneFGFR3C0005695Bladder Neoplasm4CGI;CTD_human
TgeneFGFR3C1300257Thanatophoric dysplasia, type 24CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneFGFR3C1864852CATSHL syndrome4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneFGFR3C2674173Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneFGFR3C0265269Lacrimoauriculodentodigital syndrome2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT


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Clinical Trials of the Found Drugs/Small Molecules


check button Statistics of the Clinical Trials of the Found Kinase Inibitors from clinicaltrials.gov (06-17-2024)

check button Clinical Trials from clinicaltrials.gov (06-17-2024)

Fusion GeneKinase InhibitorNCT IDStudy StatusPhasesDisease# EnrolmentDate