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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:FGFR1_IFT74

Kinase Fusion Protein Summary

check button Kinase Fusion gene summary
Kinase Fusion partner gene informationKinase Fusion gene name: FGFR1_IFT74
KinaseFusionDB ID: KFG2307
FusionGDB2.0 ID: KFG2307
HgeneTgene
Gene symbol

FGFR1

IFT74

Gene ID

2260

80173

Gene namefibroblast growth factor receptor 1intraflagellar transport 74
SynonymsBFGFR|CD331|CEK|ECCL|FGFBR|FGFR-1|FLG|FLT-2|FLT2|HBGFR|HH2|HRTFDS|KAL2|N-SAM|OGD|bFGF-R-1BBS22|CCDC2|CMG-1|CMG1|JBTS40|SPGF58
Cytomap

8p11.23

9p21.2

Type of geneprotein-codingprotein-coding
Descriptionfibroblast growth factor receptor 1FGFR1/PLAG1 fusionFMS-like tyrosine kinase 2basic fibroblast growth factor receptor 1fms-related tyrosine kinase 2heparin-binding growth factor receptorhydroxyaryl-protein kinaseproto-oncogene c-Fgrintraflagellar transport protein 74 homologcapillary morphogenesis gene 1 proteincapillary morphogenesis protein 1coiled-coil domain containing 2coiled-coil domain-containing protein 2intraflagellar transport 74 homolog
Modification date2024041620240305
UniProtAcc

Q9NVK5

Q96LB3

Ensembl transtripts involved in fusion geneENST idsENST00000326324, ENST00000335922, 
ENST00000356207, ENST00000397113, 
ENST00000341462, ENST00000397091, 
ENST00000397103, ENST00000397108, 
ENST00000425967, ENST00000447712, 
ENST00000496629, ENST00000532791, 
ENST00000380062, ENST00000429045, 
ENST00000433700, ENST00000443698, 
Context (manual curation of fusion genes in KinaseFusionDB)

PubMed: FGFR1 [Title/Abstract] AND IFT74 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)FGFR1(38270248)-IFT74(27011665), # 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
HgeneFGFR1

GO:0008284

positive regulation of cell population proliferation

8663044

HgeneFGFR1

GO:0008543

fibroblast growth factor receptor signaling pathway

8663044|21885851

HgeneFGFR1

GO:0010863

positive regulation of phospholipase C activity

18480409

HgeneFGFR1

GO:0018108

peptidyl-tyrosine phosphorylation

8622701|18480409

HgeneFGFR1

GO:0043406

positive regulation of MAP kinase activity

8622701|18480409

HgeneFGFR1

GO:0044344

cellular response to fibroblast growth factor stimulus

21885851

HgeneFGFR1

GO:0046777

protein autophosphorylation

8622701

HgeneFGFR1

GO:2001028

positive regulation of endothelial cell chemotaxis

21885851


check buttonKinase Fusion gene breakpoints across FGFR1 (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 IFT74 (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
ChiTaRS5.0AW023458FGFR1chr8

38270248

IFT74chr9

27011665



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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/:38270248/:27011665)
- 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
FGFR1

Q9NVK5

IFT74

Q96LB3

FUNCTION: May be involved in wound healing pathway. {ECO:0000250}.FUNCTION: Component of the intraflagellar transport (IFT) complex B: together with IFT81, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium (PubMed:23990561). Binds beta-tubulin via its basic region (PubMed:23990561). Required for ciliogenesis (PubMed:23990561). Essential for flagellogenesis during spermatogenesis (PubMed:33689014). {ECO:0000269|PubMed:23990561, ECO:0000269|PubMed:33689014}.

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 FGFR1_IFT74


check button Phosphorylation target of the kinase
(phosphosite, 03-17-2024)
KinaseKinase UniProt AccKinase speciesSubstrateSubstrate UniProt AccSubstrate phosphorylated residuesSubstrate phosphorylated sites (+/-7AA)Domain
FGFR1P11362humanIDH1O75874Y42VELDLHsyDLGIENRIso_dh
FGFR1P11362humanPDP1Q9P0J1Y94SILkANEySFkVPEF
FGFR1P11362humanFGFR1P11362Y653RDIHHIDyykKTTNGPK_Tyr_Ser-Thr
FGFR1P11362humanFGFR1P11362Y583RRPPGLEyCyNPsHNPK_Tyr_Ser-Thr
FGFR1P11362humanAMOTL2Q9Y2J4Y107kGEELPTyEEAKAHS
FGFR1P11362humanZMYM2Q9UBW7Y680KLHCIVTyCEyCQEE
FGFR1P11362humanZMYM2Q9UBW7Y683CIVTyCEyCQEEKTL
FGFR1P11362humanFGFR1P11362Y585PPGLEyCyNPsHNPEPK_Tyr_Ser-Thr
FGFR1P11362humanZMYM2Q9UBW7Y557QCIGPNGyMEPYCStzf-FCS
FGFR1P11362humanPDK1Q15118Y136AEDAkAIyDFTDTVIBCDHK_Adom3
FGFR1P11362humanZMYM2Q9UBW7Y502CQSCVSEykQVGSHPzf-FCS
FGFR1P11362humanSTAT3P40763Y705DPGsAAPyLktKFIC
FGFR1P11362humanLDHAP00338Y83kIVSGkDyNVTANskLdh_1_N
FGFR1P11362humanPDK1Q15118Y244RRLCDLyyINSPELE
FGFR1P11362humanFGFR1P11362Y730SNCTNELyMMMRDCWPK_Tyr_Ser-Thr
FGFR1P11362humanZMYM2Q9UBW7Y729LRCVTCNyCSQLCKkzf-FCS
FGFR1P11362humanFGFR1P11362Y654DIHHIDyykKTTNGRPK_Tyr_Ser-Thr
FGFR1P11362humanITGB4P16144Y1564LQGYSVEyQLLNGGEfn3
FGFR1P11362humanZMYM2Q9UBW7Y595KRNsLPQyQATMPDG
FGFR1P11362humanFGFR1P11362Y154NRMPVAPyWTSPEKM
FGFR1P11362humanFGFR1P11362Y766ALTSNQEyLDLSMPL
FGFR1P11362humanFGFR1P11362Y463MLAGVSEyELPEDPR
FGFR1P11362humanPDP1Q9P0J1Y381DQLNDNEyTkFIPPNPP2C
FGFR1P11362humanPLCG1P19174Y783EGRNPGFyVEANPMP
FGFR1P11362humanLDHAP00338Y10tLkDQLIyNLLkEEQ
FGFR1P11362humanPDHA1P08559Y301MsDPGVsyRtREEIQE1_dh
FGFR1P11362humanPDK1Q15118Y243ARRLCDLyyINSPEL
FGFR1P11362humanACAT1P24752Y407HALKQGEyGLASICNThiolase_C
FGFR1P11362humanZMYM2Q9UBW7Y605TMPDGkLyNFCNsSC


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
FGFR1IDDescription0.00e+00
FGFR1GO:0006085acetyl-CoA biosynthetic process8.15e-05
FGFR1GO:1905564positive regulation of vascular endothelial cell proliferation1.18e-04
FGFR1GO:0006090pyruvate metabolic process1.18e-04
FGFR1GO:0006084acetyl-CoA metabolic process1.35e-04
FGFR1GO:0035384thioester biosynthetic process2.67e-04
FGFR1GO:0071616acyl-CoA biosynthetic process2.67e-04
FGFR1GO:0101023vascular endothelial cell proliferation2.73e-04
FGFR1GO:1905562regulation of vascular endothelial cell proliferation2.73e-04
FGFR1GO:0033866nucleoside bisphosphate biosynthetic process2.76e-04
FGFR1GO:0034030ribonucleoside bisphosphate biosynthetic process2.76e-04
FGFR1GO:0034033purine nucleoside bisphosphate biosynthetic process2.76e-04
FGFR1GO:0006086acetyl-CoA biosynthetic process from pyruvate8.66e-04
FGFR1GO:0006637acyl-CoA metabolic process9.91e-04
FGFR1GO:0035383thioester metabolic process9.91e-04
FGFR1GO:0001938positive regulation of endothelial cell proliferation1.43e-03
FGFR1GO:0033865nucleoside bisphosphate metabolic process1.70e-03
FGFR1GO:0033875ribonucleoside bisphosphate metabolic process1.70e-03
FGFR1GO:0034032purine nucleoside bisphosphate metabolic process1.70e-03
FGFR1GO:0046434organophosphate catabolic process2.55e-03
FGFR1GO:0048015phosphatidylinositol-mediated signaling3.05e-03
FGFR1GO:0044272sulfur compound biosynthetic process3.08e-03
FGFR1GO:0006163purine nucleotide metabolic process3.52e-03
FGFR1GO:0001936regulation of endothelial cell proliferation3.91e-03
FGFR1GO:0072521purine-containing compound metabolic process3.91e-03
FGFR1GO:0006099tricarboxylic acid cycle3.91e-03
FGFR1GO:0001667ameboidal-type cell migration3.91e-03
FGFR1GO:0001935endothelial cell proliferation4.69e-03
FGFR1GO:0009152purine ribonucleotide biosynthetic process5.28e-03
FGFR1GO:0050679positive regulation of epithelial cell proliferation5.46e-03
FGFR1GO:0044242cellular lipid catabolic process5.64e-03
FGFR1GO:0009260ribonucleotide biosynthetic process5.82e-03
FGFR1GO:0046390ribose phosphate biosynthetic process6.17e-03
FGFR1GO:0006164purine nucleotide biosynthetic process7.83e-03
FGFR1GO:0009395phospholipid catabolic process7.83e-03
FGFR1GO:0072522purine-containing compound biosynthetic process8.19e-03
FGFR1GO:0009165nucleotide biosynthetic process1.06e-02
FGFR1GO:1901293nucleoside phosphate biosynthetic process1.06e-02
FGFR1GO:0006790sulfur compound metabolic process1.24e-02
FGFR1GO:0043536positive regulation of blood vessel endothelial cell migration1.35e-02
FGFR1GO:0016042lipid catabolic process1.37e-02
FGFR1GO:0009150purine ribonucleotide metabolic process1.71e-02
FGFR1GO:0006096glycolytic process1.71e-02
FGFR1GO:0009259ribonucleotide metabolic process1.92e-02
FGFR1GO:0019693ribose phosphate metabolic process1.99e-02
FGFR1GO:0050678regulation of epithelial cell proliferation2.15e-02
FGFR1GO:0010595positive regulation of endothelial cell migration3.30e-02
FGFR1GO:0050673epithelial cell proliferation3.30e-02
FGFR1GO:0043535regulation of blood vessel endothelial cell migration4.35e-02
FGFR1GO:0016052carbohydrate catabolic process4.80e-02

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Related Drugs to FGFR1_IFT74


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 FGFR1-IFT74 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 FGFR1_IFT74


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
HgeneFGFR1C1563720Kallmann Syndrome 2 (disorder)18CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneFGFR1C1845146Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate6GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR1C0011570Mental Depression5PSYGENET
HgeneFGFR1C0011581Depressive disorder5CTD_human;PSYGENET
HgeneFGFR1C0220658Pfeiffer Syndrome5GENOMICS_ENGLAND;UNIPROT
HgeneFGFR1C0432283Osteoglophonic dwarfism5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR1C0041696Unipolar Depression4CTD_human;PSYGENET
HgeneFGFR1C0406612Encephalocraniocutaneous lipomatosis4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR1C0005586Bipolar Disorder3PSYGENET
HgeneFGFR1C0795998JACKSON-WEISS SYNDROME3CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneFGFR1C1269683Major Depressive Disorder3PSYGENET
HgeneFGFR1C0006142Malignant neoplasm of breast2CGI;CTD_human
HgeneFGFR1C0007131Non-Small Cell Lung Carcinoma2CTD_human
HgeneFGFR1C0007137Squamous cell carcinoma2CTD_human
HgeneFGFR1C0027022Myeloproliferative disease2CTD_human
HgeneFGFR1C0162809Kallmann Syndrome2CTD_human;ORPHANET
HgeneFGFR1C0432122Interfrontal craniofaciosynostosis2GENOMICS_ENGLAND;UNIPROT
HgeneFGFR1C0678222Breast Carcinoma2CGI;CTD_human
HgeneFGFR1C1257931Mammary Neoplasms, Human2CTD_human
HgeneFGFR1C1458155Mammary Neoplasms2CTD_human
HgeneFGFR1C4704874Mammary Carcinoma, Human2CTD_human


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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