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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:KMT2C-SEMA6D (FusionGDB2 ID:43260)

Fusion Gene Summary for KMT2C-SEMA6D

check button Fusion gene summary
Fusion gene informationFusion gene name: KMT2C-SEMA6D
Fusion gene ID: 43260
HgeneTgene
Gene symbol

KMT2C

SEMA6D

Gene ID

58508

80031

Gene namelysine methyltransferase 2Csemaphorin 6D
SynonymsHALR|KLEFS2|MLL3-
Cytomap

7q36.1

15q21.1

Type of geneprotein-codingprotein-coding
Descriptionhistone-lysine N-methyltransferase 2CALR-like proteinhistone-lysine N-methyltransferase MLL3histone-lysine N-methyltransferase, H3 lysine-4 specifichomologous to ALR proteinlysine (K)-specific methyltransferase 2Cmyeloid/lymphoid or mixed-lineage lesemaphorin-6Dsema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D
Modification date2020032020200313
UniProtAcc

Q8NEZ4

.
Ensembl transtripts involved in fusion geneENST00000262189, ENST00000355193, 
ENST00000485241, ENST00000485655, 
ENST00000316364, ENST00000354744, 
ENST00000355997, ENST00000358066, 
ENST00000389425, ENST00000389428, 
ENST00000389432, ENST00000389433, 
ENST00000536845, ENST00000537942, 
ENST00000558014, ENST00000558816, 
Fusion gene scores* DoF score26 X 23 X 12=71768 X 8 X 2=128
# samples 328
** MAII scorelog2(32/7176*10)=-4.4870360800319
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/128*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KMT2C [Title/Abstract] AND SEMA6D [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKMT2C(151950330)-SEMA6D(47698553), # samples:1
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
HgeneKMT2C

GO:0097692

histone H3-K4 monomethylation

26324722


check buttonFusion gene breakpoints across KMT2C (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 SEMA6D (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
ChiTaRS5.0N/ABM148577KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+


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Fusion Gene ORF analysis for KMT2C-SEMA6D

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
intron-intronENST00000262189ENST00000316364KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000262189ENST00000354744KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000262189ENST00000355997KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000262189ENST00000358066KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000262189ENST00000389425KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000262189ENST00000389428KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000262189ENST00000389432KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000262189ENST00000389433KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000262189ENST00000536845KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000262189ENST00000537942KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000262189ENST00000558014KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000262189ENST00000558816KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000355193ENST00000316364KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000355193ENST00000354744KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000355193ENST00000355997KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000355193ENST00000358066KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000355193ENST00000389425KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000355193ENST00000389428KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000355193ENST00000389432KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000355193ENST00000389433KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000355193ENST00000536845KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000355193ENST00000537942KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000355193ENST00000558014KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000355193ENST00000558816KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000485241ENST00000316364KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000485241ENST00000354744KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000485241ENST00000355997KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000485241ENST00000358066KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000485241ENST00000389425KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000485241ENST00000389428KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000485241ENST00000389432KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000485241ENST00000389433KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000485241ENST00000536845KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000485241ENST00000537942KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000485241ENST00000558014KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000485241ENST00000558816KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000485655ENST00000316364KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000485655ENST00000354744KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000485655ENST00000355997KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000485655ENST00000358066KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000485655ENST00000389425KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000485655ENST00000389428KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000485655ENST00000389432KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000485655ENST00000389433KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000485655ENST00000536845KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000485655ENST00000537942KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000485655ENST00000558014KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+
intron-intronENST00000485655ENST00000558816KMT2Cchr7

151950330

-SEMA6Dchr15

47698553

+

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 KMT2C-SEMA6D


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.

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 KMT2C-SEMA6D


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/:151950330/:47698553)
- 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
KMT2C

Q8NEZ4

.
FUNCTION: Histone methyltransferase that methylates 'Lys-4' of histone H3 (PubMed:22266653). H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Central component of the MLL2/3 complex, a coactivator complex of nuclear receptors, involved in transcriptional coactivation. KMT2C/MLL3 may be a catalytic subunit of this complex. May be involved in leukemogenesis and developmental disorder. {ECO:0000269|PubMed:17500065, ECO:0000269|PubMed:22266653}.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}.

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 KMT2C-SEMA6D


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 KMT2C-SEMA6D


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 KMT2C-SEMA6D


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 KMT2C-SEMA6D


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