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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:ELL_INSR

Kinase Fusion Protein Summary

check button Kinase Fusion gene summary
Kinase Fusion partner gene informationKinase Fusion gene name: ELL_INSR
KinaseFusionDB ID: KFG1955
FusionGDB2.0 ID: KFG1955
HgeneTgene
Gene symbol

ELL

INSR

Gene ID

8178

3643

Gene nameelongation factor for RNA polymerase IIinsulin receptor
SynonymsC19orf17|ELL1|MEN|PPP1R68CD220|HHF5
Cytomap

19p13.11

19p13.2

Type of geneprotein-codingprotein-coding
DescriptionRNA polymerase II elongation factor ELLELL gene (11-19 lysine-rich leukemia gene)ELL/KMT2A fusion proteinKMT2A/ELL fusion proteineleven-nineteen lysine-rich leukemia proteinelongation factor RNA polymerase IIprotein phosphatase 1, regulatory subunitinsulin receptorIR
Modification date2024040720240413
UniProtAcc

P55199

P14616

Ensembl transtripts involved in fusion geneENST idsENST00000262809, ENST00000596124, 
ENST00000302850, ENST00000341500, 
Context (manual curation of fusion genes in KinaseFusionDB)

PubMed: ELL [Title/Abstract] AND INSR [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ELL(18632731)-INSR(7267907), # samples:3
check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneINSR

GO:0001934

positive regulation of protein phosphorylation

7556070

TgeneINSR

GO:0002092

positive regulation of receptor internalization

25401701

TgeneINSR

GO:0007186

G protein-coupled receptor signaling pathway

9092559

TgeneINSR

GO:0008284

positive regulation of cell population proliferation

17925406

TgeneINSR

GO:0008286

insulin receptor signaling pathway

6849137|8440175|20455999|38056462

TgeneINSR

GO:0018108

peptidyl-tyrosine phosphorylation

8496180

TgeneINSR

GO:0032148

activation of protein kinase B activity

7556070

TgeneINSR

GO:0032869

cellular response to insulin stimulus

8440175

TgeneINSR

GO:0043410

positive regulation of MAPK cascade

20455999

TgeneINSR

GO:0045725

positive regulation of glycogen biosynthetic process

17925406

TgeneINSR

GO:0046326

positive regulation of glucose import

3518947

TgeneINSR

GO:0046777

protein autophosphorylation

6849137|8496180

TgeneINSR

GO:0060267

positive regulation of respiratory burst

9092559


check buttonKinase Fusion gene breakpoints across ELL (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 INSR (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-AC-A7VB-01AELLchr19

18632731

INSRchr19

7267907



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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/:18632731/:7267907)
- 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
ELL

P55199

INSR

P14616

FUNCTION: Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Elongation factor component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:22195968, PubMed:23932780). Specifically required for stimulating the elongation step of RNA polymerase II- and III-dependent snRNA gene transcription (PubMed:23932780). ELL also plays an early role before its assembly into in the SEC complex by stabilizing RNA polymerase II recruitment/initiation and entry into the pause site. Required to stabilize the pre-initiation complex and early elongation. {ECO:0000269|PubMed:16006523, ECO:0000269|PubMed:20159561, ECO:0000269|PubMed:20471948, ECO:0000269|PubMed:22195968, ECO:0000269|PubMed:22252557, ECO:0000269|PubMed:23932780, ECO:0000269|PubMed:8596958}.FUNCTION: Receptor with tyrosine-protein kinase activity. Functions as a pH sensing receptor which is activated by increased extracellular pH. Activates an intracellular signaling pathway that involves IRS1 and AKT1/PKB. {ECO:0000269|PubMed:21641549}.

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 ELL_INSR


check button Phosphorylation target of the kinase
(phosphosite, 03-17-2024)
KinaseKinase UniProt AccKinase speciesSubstrateSubstrate UniProt AccSubstrate phosphorylated residuesSubstrate phosphorylated sites (+/-7AA)Domain
INSRP06213humanIRS1P35568Y989VPssRGDyMTMQMSC
INSRP06213humanINSRP06213-2Y1173FGMTRDIyETDyyRKPK_Tyr_Ser-Thr
INSRP06213humanINSRP06213-2S1302EENKAPEsEELEMEF
INSRP06213humanGAB1Q13480Y242FFQQQMIyDsPPSRA
INSRP06213humanBLVRAP53004Y291LAEEIQkyCCSRK__
INSRP06213humanPTENP60484Y174TIPSQRRyVyyysyL
INSRP06213humanPIK3R3Q92569Y341NEDADENyFINEEDE
INSRP06213humanINSRP06213S1348GGRDGGSsLGFkRsy
INSRP06213humanINSRP06213-2Y1343sLGFKRSyEEHIPyT
INSRP06213humanIRS1P35568Y896EPKsPGEyVNIEFGS
INSRP06213humanDOK1Q99704Y362DPKEDPIyDEPEGLA
INSRP06213humanPTENP60484Y27GFDLDLTyIYPNIIA
INSRP06213humanGAB1Q13480Y659VADERVDyVVVDQQK
INSRP06213humanGAB1Q13480Y373AsDtDssyCIPTAGM
INSRP06213humanINSRP06213Y999yASSNPEyLSASDVF
INSRP06213humanIRS1P35568Y1179GLENGLNyIDLDLVk
INSRP06213humanINSRP06213S1314EENKAPEsEELEMEF
INSRP06213humanGAB1Q13480Y589SHDSEENyVPMNPNL
INSRP06213humanPPP2CAP67775Y307VTRRtPDyFl_____
INSRP06213humanINSRP06213Y1355sLGFkRsyEEHIPyt
INSRP06213humanINSRP06213Y1189RDIyEtDyyRkGGkGPK_Tyr_Ser-Thr
INSRP06213humanBLVRAP53004Y198EERKEDQyMKMtVCLBiliv-reduc_cat
INSRP06213humanBLVRAP53004Y228PGLKRNRyLsFHFksBiliv-reduc_cat
INSRP06213humanPIK3R1P27986Y607NENtEDQysLVEDDE
INSRP06213humanARHGAP5Q13017Y306NHPDYEEyINLEGTRRhoGAP-FF1
INSRP06213humanDOK1Q99704Y398ARVkEEGyELPyNPA
INSRP06213humanINSRP06213-2Y1177RDIyETDyyRKGGKGPK_Tyr_Ser-Thr
INSRP06213humanGAB1Q13480Y447SEELDENyVPMNPNs
INSRP06213humanGAB1Q13480Y472EPIQEANyVPMtPGT
INSRP06213humanINSRP06213Y992DGPLGPLyASSNPEy
INSRP06213humanINSRP06213-2Y1349SyEEHIPyTHMNGGK
INSRP06213humanINSRP06213-2Y1178DIyETDyyRKGGKGLPK_Tyr_Ser-Thr
INSRP06213humanPTPN6P29350Y536QkGQEsEyGNItyPP
INSRP06213humanPHB1P35232Y114FtsIGEDyDERVLPsBand_7
INSRP06213humanPIK3R1P27986Y368STKMHGDytLTLRKGSH2
INSRP06213humanCCDC88CQ9P219Y2025PQTVWyEyGCV____
INSRP06213humanNFKBIAP25963Y42DsMkDEEyEQMVkEL
INSRP06213humanGAB1Q13480Y285TEADGELyVFNTPSG
INSRP06213humanINSRP06213-2S1336GGRDGGSsLGFKRSy
INSRP06213humanINSRP06213Y1011DVFPCSVyVPDEWEV
INSRP06213humanINSRP06213Y1361syEEHIPytHMNGGK
INSRP06213humanPIK3R1P27986Y580LRKtRDQyLMWLTQKPI3K_P85_iSH2
INSRP06213humanINSRP06213Y1185FGMTRDIyEtDyyRkPK_Tyr_Ser-Thr
INSRP06213humanGAB1Q13480Y627KGDKQVEyLDLDLDs
INSRP06213humanINSRP06213Y1190DIyEtDyyRkGGkGLPK_Tyr_Ser-Thr


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
INSRIDDescription0.00e+00
INSRGO:0043491phosphatidylinositol 3-kinase/protein kinase B signal transduction7.50e-09
INSRGO:0008286insulin receptor signaling pathway1.07e-05
INSRGO:0032869cellular response to insulin stimulus8.71e-05
INSRGO:0051896regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction1.64e-04
INSRGO:0032868response to insulin1.96e-04
INSRGO:0071375cellular response to peptide hormone stimulus3.28e-04
INSRGO:0046326positive regulation of glucose import3.40e-04
INSRGO:0043550regulation of lipid kinase activity3.50e-04
INSRGO:0010828positive regulation of glucose transmembrane transport4.50e-04
INSRGO:1901653cellular response to peptide4.92e-04
INSRGO:0051347positive regulation of transferase activity7.34e-04
INSRGO:0045088regulation of innate immune response7.42e-04
INSRGO:0043434response to peptide hormone7.42e-04
INSRGO:0046324regulation of glucose import7.42e-04
INSRGO:0002757immune response-activating signaling pathway1.03e-03
INSRGO:0002764immune response-regulating signaling pathway1.21e-03
INSRGO:0002221pattern recognition receptor signaling pathway1.21e-03
INSRGO:0046323glucose import1.21e-03
INSRGO:0010827regulation of glucose transmembrane transport1.21e-03
INSRGO:0002758innate immune response-activating signaling pathway1.40e-03
INSRGO:0002218activation of innate immune response1.79e-03
INSRGO:0042113B cell activation1.79e-03
INSRGO:0045725positive regulation of glycogen biosynthetic process2.22e-03
INSRGO:0070875positive regulation of glycogen metabolic process2.75e-03
INSRGO:0031647regulation of protein stability2.89e-03
INSRGO:1904659glucose transmembrane transport2.96e-03
INSRGO:0008645hexose transmembrane transport2.97e-03
INSRGO:0033674positive regulation of kinase activity2.97e-03
INSRGO:0045089positive regulation of innate immune response2.98e-03
INSRGO:0015749monosaccharide transmembrane transport2.98e-03
INSRGO:0006661phosphatidylinositol biosynthetic process3.47e-03
INSRGO:0002833positive regulation of response to biotic stimulus3.65e-03
INSRGO:0034219carbohydrate transmembrane transport3.65e-03
INSRGO:0043467regulation of generation of precursor metabolites and energy3.78e-03
INSRGO:0002753cytosolic pattern recognition receptor signaling pathway4.24e-03
INSRGO:0030183B cell differentiation4.74e-03
INSRGO:0046488phosphatidylinositol metabolic process4.79e-03
INSRGO:0008643carbohydrate transport5.03e-03
INSRGO:0005979regulation of glycogen biosynthetic process5.62e-03
INSRGO:0010962regulation of glucan biosynthetic process5.62e-03
INSRGO:0051897positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction5.77e-03
INSRGO:0043409negative regulation of MAPK cascade6.13e-03
INSRGO:2000045regulation of G1/S transition of mitotic cell cycle6.72e-03
INSRGO:0006109regulation of carbohydrate metabolic process7.11e-03
INSRGO:0031349positive regulation of defense response7.19e-03
INSRGO:0070873regulation of glycogen metabolic process7.36e-03
INSRGO:0032885regulation of polysaccharide biosynthetic process7.59e-03
INSRGO:0001953negative regulation of cell-matrix adhesion7.82e-03
INSRGO:0006470protein dephosphorylation7.99e-03

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Related Drugs to ELL_INSR


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 ELL-INSR 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 ELL_INSR


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


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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