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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-KMT2E (FusionGDB2 ID:43284)

Fusion Gene Summary for KMT2E-KMT2E

check button Fusion gene summary
Fusion gene informationFusion gene name: KMT2E-KMT2E
Fusion gene ID: 43284
HgeneTgene
Gene symbol

KMT2E

KMT2E

Gene ID

55904

55904

Gene namelysine methyltransferase 2E (inactive)lysine methyltransferase 2E (inactive)
SynonymsHDCMC04P|MLL5|NKp44L|ODLUROHDCMC04P|MLL5|NKp44L|ODLURO
Cytomap

7q22.3

7q22.3

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 (tritinactive 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 (trit
Modification date2020031420200314
UniProtAcc

Q8IZD2

Q8IZD2

Ensembl transtripts involved in fusion geneENST00000257745, ENST00000311117, 
ENST00000334877, ENST00000334914, 
ENST00000476671, ENST00000480368, 
ENST00000480368, ENST00000257745, 
ENST00000334877, ENST00000334914, 
ENST00000476671, ENST00000311117, 
Fusion gene scores* DoF score18 X 21 X 9=34027 X 10 X 3=210
# samples 2810
** MAII scorelog2(28/3402*10)=-3.60288440871842
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/210*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointKMT2E(104730648)-KMT2E(104742520), # samples:1
KMT2E(104752797)-KMT2E(104703868), # samples:1
KMT2E(104753631)-KMT2E(104678920), # samples:1
KMT2E(104627829)-KMT2E(104627146), # samples:1
Anticipated loss of major functional domain due to fusion event.KMT2E-KMT2E seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
KMT2E-KMT2E seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
KMT2E-KMT2E seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
KMT2E-KMT2E seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
KMT2E-KMT2E seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
KMT2E-KMT2E seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* 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

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.
all structure

check buttonFusion gene breakpoints across KMT2E (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChiTaRS5.0N/AAA603058KMT2Echr7

104730648

-KMT2Echr7

104742520

-
ChiTaRS5.0N/AAK024088KMT2Echr7

104752797

+KMT2Echr7

104703868

+
ChiTaRS5.0N/AAW592402KMT2Echr7

104753631

+KMT2Echr7

104678920

+
ChiTaRS5.0N/ADB358950KMT2Echr7

104627829

+KMT2Echr7

104627146

+


Top

Fusion Gene ORF analysis for KMT2E-KMT2E

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-3UTRENST00000257745ENST00000480368KMT2Echr7

104753631

+KMT2Echr7

104678920

+
5CDS-3UTRENST00000311117ENST00000480368KMT2Echr7

104753631

+KMT2Echr7

104678920

+
5CDS-3UTRENST00000334877ENST00000480368KMT2Echr7

104753631

+KMT2Echr7

104678920

+
5CDS-5UTRENST00000257745ENST00000257745KMT2Echr7

104730648

-KMT2Echr7

104742520

-
5CDS-5UTRENST00000257745ENST00000257745KMT2Echr7

104752797

+KMT2Echr7

104703868

+
5CDS-5UTRENST00000257745ENST00000334877KMT2Echr7

104730648

-KMT2Echr7

104742520

-
5CDS-5UTRENST00000257745ENST00000334877KMT2Echr7

104752797

+KMT2Echr7

104703868

+
5CDS-5UTRENST00000257745ENST00000334914KMT2Echr7

104730648

-KMT2Echr7

104742520

-
5CDS-5UTRENST00000257745ENST00000334914KMT2Echr7

104752797

+KMT2Echr7

104703868

+
5CDS-5UTRENST00000257745ENST00000476671KMT2Echr7

104752797

+KMT2Echr7

104703868

+
5CDS-5UTRENST00000311117ENST00000257745KMT2Echr7

104730648

-KMT2Echr7

104742520

-
5CDS-5UTRENST00000311117ENST00000257745KMT2Echr7

104752797

+KMT2Echr7

104703868

+
5CDS-5UTRENST00000311117ENST00000334877KMT2Echr7

104730648

-KMT2Echr7

104742520

-
5CDS-5UTRENST00000311117ENST00000334877KMT2Echr7

104752797

+KMT2Echr7

104703868

+
5CDS-5UTRENST00000311117ENST00000334914KMT2Echr7

104730648

-KMT2Echr7

104742520

-
5CDS-5UTRENST00000311117ENST00000334914KMT2Echr7

104752797

+KMT2Echr7

104703868

+
5CDS-5UTRENST00000311117ENST00000476671KMT2Echr7

104752797

+KMT2Echr7

104703868

+
5CDS-5UTRENST00000334877ENST00000257745KMT2Echr7

104730648

-KMT2Echr7

104742520

-
5CDS-5UTRENST00000334877ENST00000257745KMT2Echr7

104752797

+KMT2Echr7

104703868

+
5CDS-5UTRENST00000334877ENST00000334877KMT2Echr7

104730648

-KMT2Echr7

104742520

-
5CDS-5UTRENST00000334877ENST00000334877KMT2Echr7

104752797

+KMT2Echr7

104703868

+
5CDS-5UTRENST00000334877ENST00000334914KMT2Echr7

104730648

-KMT2Echr7

104742520

-
5CDS-5UTRENST00000334877ENST00000334914KMT2Echr7

104752797

+KMT2Echr7

104703868

+
5CDS-5UTRENST00000334877ENST00000476671KMT2Echr7

104752797

+KMT2Echr7

104703868

+
5CDS-5UTRENST00000334914ENST00000257745KMT2Echr7

104752797

+KMT2Echr7

104703868

+
5CDS-5UTRENST00000334914ENST00000334877KMT2Echr7

104752797

+KMT2Echr7

104703868

+
5CDS-5UTRENST00000334914ENST00000334914KMT2Echr7

104752797

+KMT2Echr7

104703868

+
5CDS-5UTRENST00000334914ENST00000476671KMT2Echr7

104752797

+KMT2Echr7

104703868

+
5CDS-5UTRENST00000476671ENST00000257745KMT2Echr7

104730648

-KMT2Echr7

104742520

-
5CDS-5UTRENST00000476671ENST00000334877KMT2Echr7

104730648

-KMT2Echr7

104742520

-
5CDS-5UTRENST00000476671ENST00000334914KMT2Echr7

104730648

-KMT2Echr7

104742520

-
5CDS-intronENST00000257745ENST00000257745KMT2Echr7

104753631

+KMT2Echr7

104678920

+
5CDS-intronENST00000257745ENST00000311117KMT2Echr7

104753631

+KMT2Echr7

104678920

+
5CDS-intronENST00000257745ENST00000334877KMT2Echr7

104753631

+KMT2Echr7

104678920

+
5CDS-intronENST00000257745ENST00000334914KMT2Echr7

104753631

+KMT2Echr7

104678920

+
5CDS-intronENST00000257745ENST00000476671KMT2Echr7

104730648

-KMT2Echr7

104742520

-
5CDS-intronENST00000257745ENST00000476671KMT2Echr7

104753631

+KMT2Echr7

104678920

+
5CDS-intronENST00000257745ENST00000480368KMT2Echr7

104730648

-KMT2Echr7

104742520

-
5CDS-intronENST00000257745ENST00000480368KMT2Echr7

104752797

+KMT2Echr7

104703868

+
5CDS-intronENST00000311117ENST00000257745KMT2Echr7

104753631

+KMT2Echr7

104678920

+
5CDS-intronENST00000311117ENST00000311117KMT2Echr7

104753631

+KMT2Echr7

104678920

+
5CDS-intronENST00000311117ENST00000334877KMT2Echr7

104753631

+KMT2Echr7

104678920

+
5CDS-intronENST00000311117ENST00000334914KMT2Echr7

104753631

+KMT2Echr7

104678920

+
5CDS-intronENST00000311117ENST00000476671KMT2Echr7

104730648

-KMT2Echr7

104742520

-
5CDS-intronENST00000311117ENST00000476671KMT2Echr7

104753631

+KMT2Echr7

104678920

+
5CDS-intronENST00000311117ENST00000480368KMT2Echr7

104730648

-KMT2Echr7

104742520

-
5CDS-intronENST00000311117ENST00000480368KMT2Echr7

104752797

+KMT2Echr7

104703868

+
5CDS-intronENST00000334877ENST00000257745KMT2Echr7

104753631

+KMT2Echr7

104678920

+
5CDS-intronENST00000334877ENST00000311117KMT2Echr7

104753631

+KMT2Echr7

104678920

+
5CDS-intronENST00000334877ENST00000334877KMT2Echr7

104753631

+KMT2Echr7

104678920

+
5CDS-intronENST00000334877ENST00000334914KMT2Echr7

104753631

+KMT2Echr7

104678920

+
5CDS-intronENST00000334877ENST00000476671KMT2Echr7

104730648

-KMT2Echr7

104742520

-
5CDS-intronENST00000334877ENST00000476671KMT2Echr7

104753631

+KMT2Echr7

104678920

+
5CDS-intronENST00000334877ENST00000480368KMT2Echr7

104730648

-KMT2Echr7

104742520

-
5CDS-intronENST00000334877ENST00000480368KMT2Echr7

104752797

+KMT2Echr7

104703868

+
5CDS-intronENST00000334914ENST00000480368KMT2Echr7

104752797

+KMT2Echr7

104703868

+
5CDS-intronENST00000476671ENST00000476671KMT2Echr7

104730648

-KMT2Echr7

104742520

-
5CDS-intronENST00000476671ENST00000480368KMT2Echr7

104730648

-KMT2Echr7

104742520

-
5UTR-3CDSENST00000334914ENST00000311117KMT2Echr7

104730648

-KMT2Echr7

104742520

-
5UTR-5UTRENST00000334914ENST00000257745KMT2Echr7

104730648

-KMT2Echr7

104742520

-
5UTR-5UTRENST00000334914ENST00000334877KMT2Echr7

104730648

-KMT2Echr7

104742520

-
5UTR-5UTRENST00000334914ENST00000334914KMT2Echr7

104730648

-KMT2Echr7

104742520

-
5UTR-intronENST00000334914ENST00000476671KMT2Echr7

104730648

-KMT2Echr7

104742520

-
5UTR-intronENST00000334914ENST00000480368KMT2Echr7

104730648

-KMT2Echr7

104742520

-
Frame-shiftENST00000257745ENST00000311117KMT2Echr7

104752797

+KMT2Echr7

104703868

+
Frame-shiftENST00000311117ENST00000311117KMT2Echr7

104752797

+KMT2Echr7

104703868

+
Frame-shiftENST00000334877ENST00000311117KMT2Echr7

104752797

+KMT2Echr7

104703868

+
Frame-shiftENST00000334914ENST00000311117KMT2Echr7

104752797

+KMT2Echr7

104703868

+
In-frameENST00000257745ENST00000311117KMT2Echr7

104730648

-KMT2Echr7

104742520

-
In-frameENST00000311117ENST00000311117KMT2Echr7

104730648

-KMT2Echr7

104742520

-
In-frameENST00000334877ENST00000311117KMT2Echr7

104730648

-KMT2Echr7

104742520

-
In-frameENST00000476671ENST00000311117KMT2Echr7

104730648

-KMT2Echr7

104742520

-
intron-3CDSENST00000476671ENST00000311117KMT2Echr7

104752797

+KMT2Echr7

104703868

+
intron-3CDSENST00000480368ENST00000311117KMT2Echr7

104730648

-KMT2Echr7

104742520

-
intron-3CDSENST00000480368ENST00000311117KMT2Echr7

104752797

+KMT2Echr7

104703868

+
intron-3UTRENST00000334914ENST00000480368KMT2Echr7

104753631

+KMT2Echr7

104678920

+
intron-3UTRENST00000476671ENST00000480368KMT2Echr7

104753631

+KMT2Echr7

104678920

+
intron-3UTRENST00000480368ENST00000480368KMT2Echr7

104753631

+KMT2Echr7

104678920

+
intron-5UTRENST00000476671ENST00000257745KMT2Echr7

104752797

+KMT2Echr7

104703868

+
intron-5UTRENST00000476671ENST00000334877KMT2Echr7

104752797

+KMT2Echr7

104703868

+
intron-5UTRENST00000476671ENST00000334914KMT2Echr7

104752797

+KMT2Echr7

104703868

+
intron-5UTRENST00000476671ENST00000476671KMT2Echr7

104752797

+KMT2Echr7

104703868

+
intron-5UTRENST00000480368ENST00000257745KMT2Echr7

104730648

-KMT2Echr7

104742520

-
intron-5UTRENST00000480368ENST00000257745KMT2Echr7

104752797

+KMT2Echr7

104703868

+
intron-5UTRENST00000480368ENST00000334877KMT2Echr7

104730648

-KMT2Echr7

104742520

-
intron-5UTRENST00000480368ENST00000334877KMT2Echr7

104752797

+KMT2Echr7

104703868

+
intron-5UTRENST00000480368ENST00000334914KMT2Echr7

104730648

-KMT2Echr7

104742520

-
intron-5UTRENST00000480368ENST00000334914KMT2Echr7

104752797

+KMT2Echr7

104703868

+
intron-5UTRENST00000480368ENST00000476671KMT2Echr7

104752797

+KMT2Echr7

104703868

+
intron-intronENST00000257745ENST00000257745KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000257745ENST00000311117KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000257745ENST00000334877KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000257745ENST00000334914KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000257745ENST00000476671KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000257745ENST00000480368KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000311117ENST00000257745KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000311117ENST00000311117KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000311117ENST00000334877KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000311117ENST00000334914KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000311117ENST00000476671KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000311117ENST00000480368KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000334877ENST00000257745KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000334877ENST00000311117KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000334877ENST00000334877KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000334877ENST00000334914KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000334877ENST00000476671KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000334877ENST00000480368KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000334914ENST00000257745KMT2Echr7

104753631

+KMT2Echr7

104678920

+
intron-intronENST00000334914ENST00000257745KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000334914ENST00000311117KMT2Echr7

104753631

+KMT2Echr7

104678920

+
intron-intronENST00000334914ENST00000311117KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000334914ENST00000334877KMT2Echr7

104753631

+KMT2Echr7

104678920

+
intron-intronENST00000334914ENST00000334877KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000334914ENST00000334914KMT2Echr7

104753631

+KMT2Echr7

104678920

+
intron-intronENST00000334914ENST00000334914KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000334914ENST00000476671KMT2Echr7

104753631

+KMT2Echr7

104678920

+
intron-intronENST00000334914ENST00000476671KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000334914ENST00000480368KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000476671ENST00000257745KMT2Echr7

104753631

+KMT2Echr7

104678920

+
intron-intronENST00000476671ENST00000257745KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000476671ENST00000311117KMT2Echr7

104753631

+KMT2Echr7

104678920

+
intron-intronENST00000476671ENST00000311117KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000476671ENST00000334877KMT2Echr7

104753631

+KMT2Echr7

104678920

+
intron-intronENST00000476671ENST00000334877KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000476671ENST00000334914KMT2Echr7

104753631

+KMT2Echr7

104678920

+
intron-intronENST00000476671ENST00000334914KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000476671ENST00000476671KMT2Echr7

104753631

+KMT2Echr7

104678920

+
intron-intronENST00000476671ENST00000476671KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000476671ENST00000480368KMT2Echr7

104752797

+KMT2Echr7

104703868

+
intron-intronENST00000476671ENST00000480368KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000480368ENST00000257745KMT2Echr7

104753631

+KMT2Echr7

104678920

+
intron-intronENST00000480368ENST00000257745KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000480368ENST00000311117KMT2Echr7

104753631

+KMT2Echr7

104678920

+
intron-intronENST00000480368ENST00000311117KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000480368ENST00000334877KMT2Echr7

104753631

+KMT2Echr7

104678920

+
intron-intronENST00000480368ENST00000334877KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000480368ENST00000334914KMT2Echr7

104753631

+KMT2Echr7

104678920

+
intron-intronENST00000480368ENST00000334914KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000480368ENST00000476671KMT2Echr7

104730648

-KMT2Echr7

104742520

-
intron-intronENST00000480368ENST00000476671KMT2Echr7

104753631

+KMT2Echr7

104678920

+
intron-intronENST00000480368ENST00000476671KMT2Echr7

104627829

+KMT2Echr7

104627146

+
intron-intronENST00000480368ENST00000480368KMT2Echr7

104730648

-KMT2Echr7

104742520

-
intron-intronENST00000480368ENST00000480368KMT2Echr7

104752797

+KMT2Echr7

104703868

+
intron-intronENST00000480368ENST00000480368KMT2Echr7

104627829

+KMT2Echr7

104627146

+

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-KMT2E


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)

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.
genomic feature

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.

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Fusion Protein Features for KMT2E-KMT2E


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/chr7:104730648/chr7:104742520)
- 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

KMT2E

Q8IZD2

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: 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}.

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
TgeneKMT2Echr7:104730648chr7:104742520ENST00000257745026559_61501859.0Coiled coilOntology_term=ECO:0000255
TgeneKMT2Echr7:104730648chr7:104742520ENST00000311117027559_61501859.0Coiled coilOntology_term=ECO:0000255
TgeneKMT2Echr7:104730648chr7:104742520ENST00000334877026559_61501817.0Coiled coilOntology_term=ECO:0000255
TgeneKMT2Echr7:104730648chr7:104742520ENST00000476671015559_6150610.0Coiled coilOntology_term=ECO:0000255
TgeneKMT2Echr7:104730648chr7:104742520ENST000002577450261433_184601859.0Compositional biasPro-rich
TgeneKMT2Echr7:104730648chr7:104742520ENST000003111170271433_184601859.0Compositional biasPro-rich
TgeneKMT2Echr7:104730648chr7:104742520ENST000003348770261433_184601817.0Compositional biasPro-rich
TgeneKMT2Echr7:104730648chr7:104742520ENST000004766710151433_18460610.0Compositional biasPro-rich
TgeneKMT2Echr7:104730648chr7:104742520ENST00000257745026330_44701859.0DomainSET
TgeneKMT2Echr7:104730648chr7:104742520ENST00000311117027330_44701859.0DomainSET
TgeneKMT2Echr7:104730648chr7:104742520ENST00000334877026330_44701817.0DomainSET
TgeneKMT2Echr7:104730648chr7:104742520ENST00000476671015330_4470610.0DomainSET
TgeneKMT2Echr7:104730648chr7:104742520ENST00000257745026118_16601859.0Zinc fingerPHD-type
TgeneKMT2Echr7:104730648chr7:104742520ENST00000311117027118_16601859.0Zinc fingerPHD-type
TgeneKMT2Echr7:104730648chr7:104742520ENST00000334877026118_16601817.0Zinc fingerPHD-type
TgeneKMT2Echr7:104730648chr7:104742520ENST00000476671015118_1660610.0Zinc fingerPHD-type

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneKMT2Echr7:104730648chr7:104742520ENST00000257745-126559_61501859.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Echr7:104730648chr7:104742520ENST00000311117-127559_61501859.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Echr7:104730648chr7:104742520ENST00000334877-126559_61501817.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Echr7:104730648chr7:104742520ENST00000476671-115559_6150610.0Coiled coilOntology_term=ECO:0000255
HgeneKMT2Echr7:104730648chr7:104742520ENST00000257745-1261433_184601859.0Compositional biasPro-rich
HgeneKMT2Echr7:104730648chr7:104742520ENST00000311117-1271433_184601859.0Compositional biasPro-rich
HgeneKMT2Echr7:104730648chr7:104742520ENST00000334877-1261433_184601817.0Compositional biasPro-rich
HgeneKMT2Echr7:104730648chr7:104742520ENST00000476671-1151433_18460610.0Compositional biasPro-rich
HgeneKMT2Echr7:104730648chr7:104742520ENST00000257745-126330_44701859.0DomainSET
HgeneKMT2Echr7:104730648chr7:104742520ENST00000311117-127330_44701859.0DomainSET
HgeneKMT2Echr7:104730648chr7:104742520ENST00000334877-126330_44701817.0DomainSET
HgeneKMT2Echr7:104730648chr7:104742520ENST00000476671-115330_4470610.0DomainSET
HgeneKMT2Echr7:104730648chr7:104742520ENST00000257745-126118_16601859.0Zinc fingerPHD-type
HgeneKMT2Echr7:104730648chr7:104742520ENST00000311117-127118_16601859.0Zinc fingerPHD-type
HgeneKMT2Echr7:104730648chr7:104742520ENST00000334877-126118_16601817.0Zinc fingerPHD-type
HgeneKMT2Echr7:104730648chr7:104742520ENST00000476671-115118_1660610.0Zinc fingerPHD-type


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Fusion Gene Sequence for KMT2E-KMT2E


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-KMT2E


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-KMT2E


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-KMT2E


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