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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: 19086

FusionGeneSummary for KMT2A_CBL

check button Fusion gene summary
Fusion gene informationFusion gene name: KMT2A_CBL
Fusion gene ID: 19086
HgeneTgene
Gene symbol

KMT2A

CBL

Gene ID

4297

867

Gene namelysine methyltransferase 2ACbl proto-oncogene
SynonymsALL-1|CXXC7|HRX|HTRX1|MLL|MLL1|MLL1A|TRX1|WDSTSC-CBL|CBL2|FRA11B|NSLL|RNF55
Cytomap

11q23.3

11q23.3

Type of geneprotein-codingprotein-coding
Descriptionhistone-lysine N-methyltransferase 2ACXXC-type zinc finger protein 7lysine (K)-specific methyltransferase 2Alysine N-methyltransferase 2Amixed lineage leukemia 1myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)trithorax-likeE3 ubiquitin-protein ligase CBLCas-Br-M (murine) ecotropic retroviral transforming sequenceCbl proto-oncogene, E3 ubiquitin protein ligaseRING finger protein 55RING-type E3 ubiquitin transferase CBLcasitas B-lineage lymphoma proto-oncogenefragile si
Modification date2018051920180523
UniProtAcc

Q03164

P22681

Ensembl transtripts involved in fusion geneENST00000534358, ENST00000389506, 
ENST00000354520, ENST00000420751, 
ENST00000264033, 
Fusion gene scores* DoF score31 X 72 X 6=133923 X 3 X 2=18
# samples 1293
** MAII scorelog2(129/13392*10)=-3.37592846223973
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: KMT2A [Title/Abstract] AND CBL [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationOncogene involved fusion gene, in-frame and retained their domain.
Tumor suppressor gene involved fusion gene, in-frame but not retained their domain.
Tumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
Transcription factor involved fusion gene, inframe and retained DNA-binding 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
HgeneKMT2A

GO:0045944

positive regulation of transcription by RNA polymerase II

20861184

HgeneKMT2A

GO:0051568

histone H3-K4 methylation

19556245

HgeneKMT2A

GO:0065003

protein-containing complex assembly

15199122

HgeneKMT2A

GO:0080182

histone H3-K4 trimethylation

20861184


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
ChiTaRS3.1AY125965KMT2Achr11

118353213

+CBLchr11

119155677

+
* 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
In-frameENST00000534358ENST00000264033KMT2Achr11

118353213

+CBLchr11

119155677

+
In-frameENST00000389506ENST00000264033KMT2Achr11

118353213

+CBLchr11

119155677

+
In-frameENST00000354520ENST00000264033KMT2Achr11

118353213

+CBLchr11

119155677

+
intron-3CDSENST00000420751ENST00000264033KMT2Achr11

118353213

+CBLchr11

119155677

+

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FusionProtFeatures for KMT2A_CBL


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KMT2A

Q03164

CBL

P22681

Adapter protein that functions as a negative regulatorof many signaling pathways that are triggered by activation ofcell surface receptors. Acts as an E3 ubiquitin-protein ligase,which accepts ubiquitin from specific E2 ubiquitin-conjugatingenzymes, and then transfers it to substrates promoting theirdegradation by the proteasome. Recognizes activated receptortyrosine kinases, including KIT, FLT1, FGFR1, FGFR2, PDGFRA,PDGFRB, EGFR, CSF1R, EPHA8 and KDR and terminates signaling.Recognizes membrane-bound HCK, SRC and other kinases of the SRCfamily and mediates their ubiquitination and degradation.Participates in signal transduction in hematopoietic cells. Playsan important role in the regulation of osteoblast differentiationand apoptosis. Essential for osteoclastic bone resorption. The'Tyr-731' phosphorylated form induces the activation andrecruitment of phosphatidylinositol 3-kinase to the cell membranein a signaling pathway that is critical for osteoclast function.May be functionally coupled with the E2 ubiquitin-protein ligaseUB2D3. {ECO:0000269|PubMed:10514377, ECO:0000269|PubMed:11896602,ECO:0000269|PubMed:14661060, ECO:0000269|PubMed:14739300,ECO:0000269|PubMed:15190072, ECO:0000269|PubMed:17509076,ECO:0000269|PubMed:18374639, ECO:0000269|PubMed:19689429,ECO:0000269|PubMed:21596750}.

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
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+835137_14313623932Compositional biasNote=Poly-Gly
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+83517_10213623932Compositional biasNote=Ala/Gly/Ser-rich
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+835561_56413623932Compositional biasNote=Poly-Pro
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+835568_57113623932Compositional biasNote=Poly-Pro
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+836137_14313623970Compositional biasNote=Poly-Gly
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+83617_10213623970Compositional biasNote=Ala/Gly/Ser-rich
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+836561_56413623970Compositional biasNote=Poly-Pro
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+836568_57113623970Compositional biasNote=Poly-Pro
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+836137_14313623973Compositional biasNote=Poly-Gly
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+83617_10213623973Compositional biasNote=Ala/Gly/Ser-rich
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+836561_56413623973Compositional biasNote=Poly-Pro
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+836568_57113623973Compositional biasNote=Poly-Pro
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+835169_18013623932DNA bindingNote=A.T hook 1
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+835217_22713623932DNA bindingNote=A.T hook 2
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+835301_30913623932DNA bindingNote=A.T hook 3
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+836169_18013623970DNA bindingNote=A.T hook 1
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+836217_22713623970DNA bindingNote=A.T hook 2
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+836301_30913623970DNA bindingNote=A.T hook 3
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+836169_18013623973DNA bindingNote=A.T hook 1
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+836217_22713623973DNA bindingNote=A.T hook 2
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+836301_30913623973DNA bindingNote=A.T hook 3
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+8351147_119513623932Zinc fingerCXXC-type
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+8361147_119513623970Zinc fingerCXXC-type
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+8361147_119513623973Zinc fingerCXXC-type
TgeneCBLchr11:118353213chr11:119155677ENST00000264033+816477_688477907Compositional biasNote=Pro-rich
TgeneCBLchr11:118353213chr11:119155677ENST00000264033+816689_834477907Compositional biasNote=Asp/Glu-rich (acidic)
TgeneCBLchr11:118353213chr11:119155677ENST00000264033+816856_895477907DomainUBA

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+8351703_174813623932DomainBromo%3B divergent
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+8352018_207413623932DomainFYR N-terminal
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+8353666_374713623932DomainFYR C-terminal
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+8353829_394513623932DomainSET
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+8353953_396913623932DomainPost-SET
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+8361703_174813623970DomainBromo%3B divergent
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+8362018_207413623970DomainFYR N-terminal
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+8363666_374713623970DomainFYR C-terminal
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+8363829_394513623970DomainSET
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+8363953_396913623970DomainPost-SET
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+8361703_174813623973DomainBromo%3B divergent
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+8362018_207413623973DomainFYR N-terminal
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+8363666_374713623973DomainFYR C-terminal
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+8363829_394513623973DomainSET
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+8363953_396913623973DomainPost-SET
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+8353906_390713623932RegionS-adenosyl-L-methionine binding
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+8363906_390713623970RegionS-adenosyl-L-methionine binding
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+8363906_390713623973RegionS-adenosyl-L-methionine binding
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+8351431_148213623932Zinc fingerPHD-type 1
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+8351479_153313623932Zinc fingerPHD-type 2
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+8351566_162713623932Zinc fingerPHD-type 3
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+8351870_191013623932Zinc fingerC2HC pre-PHD-type
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+8351931_197813623932Zinc fingerPHD-type 4
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+8361431_148213623970Zinc fingerPHD-type 1
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+8361479_153313623970Zinc fingerPHD-type 2
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+8361566_162713623970Zinc fingerPHD-type 3
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+8361870_191013623970Zinc fingerC2HC pre-PHD-type
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+8361931_197813623970Zinc fingerPHD-type 4
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+8361431_148213623973Zinc fingerPHD-type 1
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+8361479_153313623973Zinc fingerPHD-type 2
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+8361566_162713623973Zinc fingerPHD-type 3
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+8361870_191013623973Zinc fingerC2HC pre-PHD-type
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+8361931_197813623973Zinc fingerPHD-type 4
TgeneCBLchr11:118353213chr11:119155677ENST00000264033+816227_240477907Calcium binding.
TgeneCBLchr11:118353213chr11:119155677ENST00000264033+816357_476477907Compositional biasNote=Asp/Glu-rich (acidic)
TgeneCBLchr11:118353213chr11:119155677ENST00000264033+81647_351477907DomainCbl-PTB
TgeneCBLchr11:118353213chr11:119155677ENST00000264033+816176_248477907RegionNote=EF-hand-like
TgeneCBLchr11:118353213chr11:119155677ENST00000264033+816249_351477907RegionNote=SH2-like
TgeneCBLchr11:118353213chr11:119155677ENST00000264033+816352_380477907RegionNote=Linker
TgeneCBLchr11:118353213chr11:119155677ENST00000264033+81647_175477907RegionNote=4H
TgeneCBLchr11:118353213chr11:119155677ENST00000264033+816381_420477907Zinc fingerRING-type


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FusionGeneSequence for KMT2A_CBL


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 KMT2A_CBL


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
KMT2APPIE, PPP1R15A, KMT2A, ASH2L, HCFC1, HCFC2, MEN1, RBBP5, WDR5, AVP, INS, OXT, MAP3K5, HDAC1, CTBP1, CBX4, BMI1, CREBBP, SMARCB1, CXXC1, MYB, CTNNB1, SNW1, E2F2, E2F4, E2F6, PSIP1, MLLT4, POLR2A, KAT8, RNF2, TP53, SBF1, MTM1, SET, HIST1H3A, HIST1H4A, KAT6A, ELL, AFF1, AFF4, CDK9, CCNT1, CTR9, LEO1, PAF1, CDC73, WDR61, MLLT3, DOT1L, SKP2, HIST3H3, SVIL, HIST2H3C, SIN3A, MLLT1, RUNX1, CBFB, H3F3A, SIRT7, ASB2, TCEB1, TCEB2, CBX8, TOP1, TAF6, NCL, HECW2, LGR4, CSNK2A2, SENP3, SYMPK, PKN1, PIH1D1, KRAS, TAF1, CHD3, SMARCA2, SMARCC2, SMARCC1, HDAC2, RBBP4, RBBP7, TBP, MBD3, SAP30, RAN, TAF9, TASP1, HIST1H2BG, EWSR1, DYNLT1, KIF11, ING4, ZNF131, ASB7CBLKRT18, MYO1C, ZAP70, PDGFRA, CRKL, GRB2, ARHGEF7, HCK, PTK2B, SORBS2, SORBS1, CD2AP, SH2B2, SH3KBP1, PIK3R2, YWHAQ, SLA, SH3BP2, EGFR, PTPN6, LCK, SPRY2, CSF1R, SH3GL3, MET, SYK, FRS2, UBE2L3, BTK, LYN, FYN, TYK2, YWHAB, YWHAZ, VAV1, LCP2, UBE2D2, FGR, ABL1, SLA2, INPPL1, SHC1, NCK1, PLCG1, SH3GL2, FLOT1, PIK3R1, CRK, CSK, ITK, CD5, LTK, IGF1R, PTPN11, UBE2D1, SPRY4, UBC, CBL, CSF1, GAPVD1, KDR, ITSN1, MST1R, UBE2M, AXL, ITGA5, KIT, LRIG1, UBASH3A, UBASH3B, GAPDH, EEF1A1, CDC42, SRC, NOTCH1, CD247, STAP2, TNFRSF10A, TNFRSF10B, FCGR2A, MYH9, ACTA1, ACTB, ACTG2, VIM, HSPA4, HSPA5, EPHA8, UBE4B, EPHB1, IL7R, CD33, NTRK1, CFTR, PSMC5, ITCH, TEK, BAG1, PTK2, PXN, VAV2, IRF8, RET, IRS1, ITSN2, HRAS, DBNL, ASAP1, TNFRSF1A, MAPK14, MAPK8, BLNK, INPP5D, TUBB, TUBA1A, SOS1, NOTCH3, SMAD3, CALM1, YES1, SFN, YWHAH, YWHAE, EPHA2, RAPGEF1, ABI1, GIF, TCN1, TCN2, MYH2, HTR2A, FYB, FGFR2, GBA, SORBS3, ITGAV, BCAR1, CD38, BCR, OSTF1, GRAP2, PIK3CA, CD40, BLK, SYNM, CUBN, SPRY1, LAT, SNX18, KRT10, KRT1, KRT2, HSPA8, PIK3CB, SPTBN1, KRT6C, KRT6B, KRT9, KRT14, KRT5, ACACA, KRT16, TUBB4B, KRT6A, TUBA1C, HSPA9, HSPA1L, MYH10, IQGAP1, KRT17, HSPA1B, SPTA1, SPTAN1, HSPA6, CCT8, KRT79, RPS19, CBLB, KRT84, CORO1C, TRIM21, KRT3, TUBA4B, CAD, ACTN1, POP1, PRKCA, PRKCQ, MAP3K11, EPOR, UBE2D3, TRPV1, USP21, PTPN22, ITGA4, STAT5A, PTEN, TNS4, CTNNB1, WAS, TRAF4, TRIM8, IRF1, FLT3, LOX, NCK2, ERBB2, CAPZA1, PRPSAP2, ERBB4, SIRT2, FRS3, FLT1, TGFBR2, SSFA2, SMAD7, PIK3R3, APPL1, EPS8, STAT3, MZF1, SERPINA5, CEP170, CEP128, FBF1, NPHP1, XPO1, PSMC1, XRCC5, ERBB2IP, SP7, ARHGEF6, TGM2, TSG101, IRF3, CDH1, RAB39B, TRIM25, TRAF2


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
TgeneCBLchr11:118353213chr11:119155677ENST00000264033+816648_906477907CD2AP


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+8351584_160013623932histone H3K4me3
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+8361584_160013623970histone H3K4me3
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+8361584_160013623973histone H3K4me3
HgeneKMT2Achr11:118353213chr11:119155677ENST00000354520+8353764_377113623932WDR5
HgeneKMT2Achr11:118353213chr11:119155677ENST00000389506+8363764_377113623970WDR5
HgeneKMT2Achr11:118353213chr11:119155677ENST00000534358+8363764_377113623973WDR5


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for KMT2A_CBL


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for KMT2A_CBL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKMT2AC0023418leukemia2CTD_human
HgeneKMT2AC0023467Leukemia, Myelocytic, Acute2CTD_human
HgeneKMT2AC0023470Myeloid Leukemia2CTD_human
HgeneKMT2AC1961102Precursor Cell Lymphoblastic Leukemia Lymphoma2CTD_human
HgeneKMT2AC0001418Adenocarcinoma1CTD_human
HgeneKMT2AC0005695Bladder Neoplasm1CTD_human
HgeneKMT2AC0007138Carcinoma, Transitional Cell1CTD_human
HgeneKMT2AC0008625Chromosome Aberrations1CTD_human
HgeneKMT2AC0023448Lymphoid leukemia1CTD_human
HgeneKMT2AC0023465Acute monocytic leukemia1CTD_human
HgeneKMT2AC0023479Acute myelomonocytic leukemia1CTD_human
HgeneKMT2AC0036341Schizophrenia1PSYGENET
HgeneKMT2AC0038356Stomach Neoplasms1CTD_human
HgeneKMT2AC0149925Small cell carcinoma of lung1CTD_human
HgeneKMT2AC2239176Liver carcinoma1CTD_human
TgeneCBLC0349639Juvenile Myelomonocytic Leukemia3CTD_human;HPO;ORPHANET
TgeneCBLC0008073Developmental Disabilities1CTD_human
TgeneCBLC0010417Cryptorchidism1CTD_human;HPO
TgeneCBLC0018273Growth Disorders1CTD_human
TgeneCBLC0042384Vasculitis1CTD_human
TgeneCBLC3150803NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA1CTD_human;ORPHANET;UNIPROT