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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:KMT2E-MAPT (FusionGDB2 ID:43289)

Fusion Gene Summary for KMT2E-MAPT

check button Fusion gene summary
Fusion gene informationFusion gene name: KMT2E-MAPT
Fusion gene ID: 43289
HgeneTgene
Gene symbol

KMT2E

MAPT

Gene ID

55904

4137

Gene namelysine methyltransferase 2E (inactive)microtubule associated protein tau
SynonymsHDCMC04P|MLL5|NKp44L|ODLURODDPAC|FTDP-17|MAPTL|MSTD|MTBT1|MTBT2|PPND|PPP1R103|TAU
Cytomap

7q22.3

17q21.31

Type of geneprotein-codingprotein-coding
Descriptioninactive histone-lysine N-methyltransferase 2Ehistone-lysine N-methyltransferase 2Ehistone-lysine N-methyltransferase MLL5inactive lysine N-methyltransferase 2Elysine (K)-specific methyltransferase 2Emyeloid/lymphoid or mixed-lineage leukemia 5 (tritmicrotubule-associated protein tauG protein beta1/gamma2 subunit-interacting factor 1PHF-tauneurofibrillary tangle proteinpaired helical filament-tauprotein phosphatase 1, regulatory subunit 103
Modification date2020031420200329
UniProtAcc

Q8IZD2

P10636

Ensembl transtripts involved in fusion geneENST00000257745, ENST00000311117, 
ENST00000334877, ENST00000476671, 
ENST00000334914, ENST00000480368, 
ENST00000570299, ENST00000262410, 
ENST00000334239, ENST00000340799, 
ENST00000344290, ENST00000347967, 
ENST00000351559, ENST00000446361, 
ENST00000535772, ENST00000415613, 
ENST00000420682, ENST00000431008, 
ENST00000571987, ENST00000574436, 
ENST00000576518, 
Fusion gene scores* DoF score18 X 21 X 9=34025 X 7 X 4=140
# samples 285
** MAII scorelog2(28/3402*10)=-3.60288440871842
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/140*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KMT2E [Title/Abstract] AND MAPT [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKMT2E(104707254)-MAPT(44039687), # samples:2
Anticipated loss of major functional domain due to fusion event.
* 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
TgeneMAPT

GO:0000226

microtubule cytoskeleton organization

1057175

TgeneMAPT

GO:0031116

positive regulation of microtubule polymerization

1421571|7706316

TgeneMAPT

GO:0045773

positive regulation of axon extension

1389180

TgeneMAPT

GO:0050848

regulation of calcium-mediated signaling

18272392

TgeneMAPT

GO:0097435

supramolecular fiber organization

15654759


check buttonFusion gene breakpoints across KMT2E (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4STADTCGA-CD-8535-01AKMT2Echr7

104707254

+MAPTchr17

44039687

+


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Fusion Gene ORF analysis for KMT2E-MAPT

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-3UTRENST00000257745ENST00000570299KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-3UTRENST00000311117ENST00000570299KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-3UTRENST00000334877ENST00000570299KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-3UTRENST00000476671ENST00000570299KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000257745ENST00000262410KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000257745ENST00000334239KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000257745ENST00000340799KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000257745ENST00000344290KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000257745ENST00000347967KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000257745ENST00000351559KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000257745ENST00000446361KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000257745ENST00000535772KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000311117ENST00000262410KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000311117ENST00000334239KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000311117ENST00000340799KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000311117ENST00000344290KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000311117ENST00000347967KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000311117ENST00000351559KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000311117ENST00000446361KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000311117ENST00000535772KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000334877ENST00000262410KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000334877ENST00000334239KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000334877ENST00000340799KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000334877ENST00000344290KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000334877ENST00000347967KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000334877ENST00000351559KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000334877ENST00000446361KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000334877ENST00000535772KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000476671ENST00000262410KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000476671ENST00000334239KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000476671ENST00000340799KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000476671ENST00000344290KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000476671ENST00000347967KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000476671ENST00000351559KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000476671ENST00000446361KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-5UTRENST00000476671ENST00000535772KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000257745ENST00000415613KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000257745ENST00000420682KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000257745ENST00000431008KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000257745ENST00000571987KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000257745ENST00000574436KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000257745ENST00000576518KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000311117ENST00000415613KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000311117ENST00000420682KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000311117ENST00000431008KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000311117ENST00000571987KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000311117ENST00000574436KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000311117ENST00000576518KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000334877ENST00000415613KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000334877ENST00000420682KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000334877ENST00000431008KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000334877ENST00000571987KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000334877ENST00000574436KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000334877ENST00000576518KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000476671ENST00000415613KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000476671ENST00000420682KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000476671ENST00000431008KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000476671ENST00000571987KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000476671ENST00000574436KMT2Echr7

104707254

+MAPTchr17

44039687

+
5CDS-intronENST00000476671ENST00000576518KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-3UTRENST00000334914ENST00000570299KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-5UTRENST00000334914ENST00000262410KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-5UTRENST00000334914ENST00000334239KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-5UTRENST00000334914ENST00000340799KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-5UTRENST00000334914ENST00000344290KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-5UTRENST00000334914ENST00000347967KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-5UTRENST00000334914ENST00000351559KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-5UTRENST00000334914ENST00000446361KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-5UTRENST00000334914ENST00000535772KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-intronENST00000334914ENST00000415613KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-intronENST00000334914ENST00000420682KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-intronENST00000334914ENST00000431008KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-intronENST00000334914ENST00000571987KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-intronENST00000334914ENST00000574436KMT2Echr7

104707254

+MAPTchr17

44039687

+
5UTR-intronENST00000334914ENST00000576518KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-3UTRENST00000480368ENST00000570299KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-5UTRENST00000480368ENST00000262410KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-5UTRENST00000480368ENST00000334239KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-5UTRENST00000480368ENST00000340799KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-5UTRENST00000480368ENST00000344290KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-5UTRENST00000480368ENST00000347967KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-5UTRENST00000480368ENST00000351559KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-5UTRENST00000480368ENST00000446361KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-5UTRENST00000480368ENST00000535772KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-intronENST00000480368ENST00000415613KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-intronENST00000480368ENST00000420682KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-intronENST00000480368ENST00000431008KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-intronENST00000480368ENST00000571987KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-intronENST00000480368ENST00000574436KMT2Echr7

104707254

+MAPTchr17

44039687

+
intron-intronENST00000480368ENST00000576518KMT2Echr7

104707254

+MAPTchr17

44039687

+

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

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Fusion Genomic Features for KMT2E-MAPT


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)
KMT2Echr7104707254+MAPTchr1744039686+1.70E-121
KMT2Echr7104707254+MAPTchr1744039686+1.70E-121

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for KMT2E-MAPT


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/:104707254/:44039687)
- 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
KMT2E

Q8IZD2

MAPT

P10636

FUNCTION: Associates with chromatin regions downstream of transcriptional start sites of active genes and thus regulates gene transcription (PubMed:23629655, PubMed:24130829, PubMed:23798402). Chromatin interaction is mediated via the binding to tri-methylated histone H3 at 'Lys-4' (H3K4me3) (PubMed:24130829, PubMed:23798402). Key regulator of hematopoiesis involved in terminal myeloid differentiation and in the regulation of hematopoietic stem cell (HSCs) self-renewal by a mechanism that involves DNA methylation (By similarity). Also acts as an important cell cycle regulator, participating in cell cycle regulatory network machinery at multiple cell cycle stages including G1/S transition, S phase progression and mitotic entry (PubMed:14718661, PubMed:18573682, PubMed:19264965, PubMed:23629655). Recruited to E2F1 responsive promoters by HCFC1 where it stimulates tri-methylation of histone H3 at 'Lys-4' and transcriptional activation and thereby facilitates G1 to S phase transition (PubMed:23629655). During myoblast differentiation, required to suppress inappropriate expression of S-phase-promoting genes and maintain expression of determination genes in quiescent cells (By similarity). {ECO:0000250|UniProtKB:Q3UG20, ECO:0000269|PubMed:14718661, ECO:0000269|PubMed:18573682, ECO:0000269|PubMed:23629655, ECO:0000269|PubMed:23798402, ECO:0000269|PubMed:24130829}.; FUNCTION: [Isoform NKp44L]: Cellular ligand for NCR2/NKp44, may play a role as a danger signal in cytotoxicity and NK-cell-mediated innate immunity. {ECO:0000269|PubMed:23958951}.FUNCTION: Promotes microtubule assembly and stability, and might be involved in the establishment and maintenance of neuronal polarity (PubMed:21985311). The C-terminus binds axonal microtubules while the N-terminus binds neural plasma membrane components, suggesting that tau functions as a linker protein between both (PubMed:21985311, PubMed:32961270). Axonal polarity is predetermined by TAU/MAPT localization (in the neuronal cell) in the domain of the cell body defined by the centrosome. The short isoforms allow plasticity of the cytoskeleton whereas the longer isoforms may preferentially play a role in its stabilization. {ECO:0000269|PubMed:21985311, ECO:0000269|PubMed:32961270}.

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


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Fusion Gene Sequence for KMT2E-MAPT


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.

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Fusion Gene PPI Analysis for KMT2E-MAPT


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


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Related Drugs for KMT2E-MAPT


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for KMT2E-MAPT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource