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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:ZNF791-KMT2E (FusionGDB2 ID:102962)

Fusion Gene Summary for ZNF791-KMT2E

check button Fusion gene summary
Fusion gene informationFusion gene name: ZNF791-KMT2E
Fusion gene ID: 102962
HgeneTgene
Gene symbol

ZNF791

KMT2E

Gene ID

163049

55904

Gene namezinc finger protein 791lysine methyltransferase 2E (inactive)
Synonyms-HDCMC04P|MLL5|NKp44L|ODLURO
Cytomap

19p13.13

7q22.3

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein 791inactive 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 date2020031320200314
UniProtAcc.

Q8IZD2

Ensembl transtripts involved in fusion geneENST00000498389, ENST00000343325, 
ENST00000446165, ENST00000458122, 
ENST00000540038, 		ENST00000311117, 
ENST00000257745, ENST00000334877, 
ENST00000334914, ENST00000476671, 
ENST00000480368, 
Fusion gene scores* DoF score7 X 5 X 5=1757 X 10 X 3=210
# samples 910
** MAII scorelog2(9/175*10)=-0.959358015502654
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: ZNF791 [Title/Abstract] AND KMT2E [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointZNF791(12721896)-KMT2E(104714066), # samples:1
Anticipated loss of major functional domain due to fusion event.ZNF791-KMT2E seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
ZNF791-KMT2E seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
ZNF791-KMT2E seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
ZNF791-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 ZNF791 (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 KMT2E (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
ChimerDB4SKCMTCGA-ER-A1A1-06AZNF791chr19

12721896

+KMT2Echr7

104714066

+


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Fusion Gene ORF analysis for ZNF791-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
3UTR-3CDSENST00000498389ENST00000311117ZNF791chr19

12721896

+KMT2Echr7

104714066

+
3UTR-5UTRENST00000498389ENST00000257745ZNF791chr19

12721896

+KMT2Echr7

104714066

+
3UTR-5UTRENST00000498389ENST00000334877ZNF791chr19

12721896

+KMT2Echr7

104714066

+
3UTR-5UTRENST00000498389ENST00000334914ZNF791chr19

12721896

+KMT2Echr7

104714066

+
3UTR-5UTRENST00000498389ENST00000476671ZNF791chr19

12721896

+KMT2Echr7

104714066

+
3UTR-intronENST00000498389ENST00000480368ZNF791chr19

12721896

+KMT2Echr7

104714066

+
5CDS-5UTRENST00000343325ENST00000257745ZNF791chr19

12721896

+KMT2Echr7

104714066

+
5CDS-5UTRENST00000343325ENST00000334877ZNF791chr19

12721896

+KMT2Echr7

104714066

+
5CDS-5UTRENST00000343325ENST00000334914ZNF791chr19

12721896

+KMT2Echr7

104714066

+
5CDS-5UTRENST00000343325ENST00000476671ZNF791chr19

12721896

+KMT2Echr7

104714066

+
5CDS-5UTRENST00000446165ENST00000257745ZNF791chr19

12721896

+KMT2Echr7

104714066

+
5CDS-5UTRENST00000446165ENST00000334877ZNF791chr19

12721896

+KMT2Echr7

104714066

+
5CDS-5UTRENST00000446165ENST00000334914ZNF791chr19

12721896

+KMT2Echr7

104714066

+
5CDS-5UTRENST00000446165ENST00000476671ZNF791chr19

12721896

+KMT2Echr7

104714066

+
5CDS-intronENST00000343325ENST00000480368ZNF791chr19

12721896

+KMT2Echr7

104714066

+
5CDS-intronENST00000446165ENST00000480368ZNF791chr19

12721896

+KMT2Echr7

104714066

+
5UTR-3CDSENST00000458122ENST00000311117ZNF791chr19

12721896

+KMT2Echr7

104714066

+
5UTR-3CDSENST00000540038ENST00000311117ZNF791chr19

12721896

+KMT2Echr7

104714066

+
5UTR-5UTRENST00000458122ENST00000257745ZNF791chr19

12721896

+KMT2Echr7

104714066

+
5UTR-5UTRENST00000458122ENST00000334877ZNF791chr19

12721896

+KMT2Echr7

104714066

+
5UTR-5UTRENST00000458122ENST00000334914ZNF791chr19

12721896

+KMT2Echr7

104714066

+
5UTR-5UTRENST00000458122ENST00000476671ZNF791chr19

12721896

+KMT2Echr7

104714066

+
5UTR-5UTRENST00000540038ENST00000257745ZNF791chr19

12721896

+KMT2Echr7

104714066

+
5UTR-5UTRENST00000540038ENST00000334877ZNF791chr19

12721896

+KMT2Echr7

104714066

+
5UTR-5UTRENST00000540038ENST00000334914ZNF791chr19

12721896

+KMT2Echr7

104714066

+
5UTR-5UTRENST00000540038ENST00000476671ZNF791chr19

12721896

+KMT2Echr7

104714066

+
5UTR-intronENST00000458122ENST00000480368ZNF791chr19

12721896

+KMT2Echr7

104714066

+
5UTR-intronENST00000540038ENST00000480368ZNF791chr19

12721896

+KMT2Echr7

104714066

+
Frame-shiftENST00000343325ENST00000311117ZNF791chr19

12721896

+KMT2Echr7

104714066

+
Frame-shiftENST00000446165ENST00000311117ZNF791chr19

12721896

+KMT2Echr7

104714066

+

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 ZNF791-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)
ZNF791chr1912721896+KMT2Echr7104714065+3.53E-050.9999647
ZNF791chr1912721896+KMT2Echr7104714065+3.53E-050.9999647

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 ZNF791-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/:12721896/:104714066)
- 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

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.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

- 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 ZNF791-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 ZNF791-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 ZNF791-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 ZNF791-KMT2E


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