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Fusion gene ID: 19118

FusionGeneSummary for KMT2C_CNTNAP2

Fusion gene summary

Fusion gene information	Fusion gene name: KMT2C_CNTNAP2
	Fusion gene ID: 19118
		Hgene	Tgene
	Gene symbol	KMT2C	CNTNAP2
	Gene ID	58508	26047
	Gene name	lysine methyltransferase 2C	contactin associated protein like 2
	Synonyms	HALR\|KLEFS2\|MLL3	AUTS15\|CASPR2\|CDFE\|NRXN4\|PTHSL1
	Cytomap	7q36.1	7q35-q36.1
	Type of gene	protein-coding	protein-coding
	Description	histone-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 le	contactin-associated protein-like 2cell recognition molecule Caspr2homolog of Drosophila neurexin IV
	Modification date	20180523	20180519
	UniProtAcc	Q8NEZ4	Q9UHC6
	Ensembl transtripts involved in fusion gene	ENST00000262189, ENST00000355193, ENST00000485655, ENST00000485241,	ENST00000361727, ENST00000538075, ENST00000463592,
Fusion gene scores	* DoF score	18 X 16 X 10=2880	8 X 8 X 7=448
	# samples	22	9
	** MAII score	log2(22/2880*10)=-3.71049338280502 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(9/448*10)=-2.31550182572793 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: KMT2C [Title/Abstract] AND CNTNAP2 [Title/Abstract] AND fusion [Title/Abstract]
Functional or gene categories assigned by FusionGDB annotation	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.

* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner

Gene

GO ID

GO term

PubMed ID

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 type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
TCGA	LD	BRCA	TCGA-BH-A0DI-01A	KMT2C	chr7	152027686	-	CNTNAP2	chr7	146740999	+
TCGA	LD	BRCA	TCGA-C8-A273-01A	KMT2C	chr7	152132711	-	CNTNAP2	chr7	146471363	+

* LD: Li Ding group's fusion gene list
RV: Roel Verhaak group's fusion gene list
ChiTaRs fusion database

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
Frame-shift	ENST00000262189	ENST00000361727	KMT2C	chr7	152027686	-	CNTNAP2	chr7	146740999	+
5CDS-intron	ENST00000262189	ENST00000538075	KMT2C	chr7	152027686	-	CNTNAP2	chr7	146740999	+
5CDS-intron	ENST00000262189	ENST00000463592	KMT2C	chr7	152027686	-	CNTNAP2	chr7	146740999	+
Frame-shift	ENST00000355193	ENST00000361727	KMT2C	chr7	152027686	-	CNTNAP2	chr7	146740999	+
5CDS-intron	ENST00000355193	ENST00000538075	KMT2C	chr7	152027686	-	CNTNAP2	chr7	146740999	+
5CDS-intron	ENST00000355193	ENST00000463592	KMT2C	chr7	152027686	-	CNTNAP2	chr7	146740999	+
intron-3CDS	ENST00000485655	ENST00000361727	KMT2C	chr7	152027686	-	CNTNAP2	chr7	146740999	+
intron-intron	ENST00000485655	ENST00000538075	KMT2C	chr7	152027686	-	CNTNAP2	chr7	146740999	+
intron-intron	ENST00000485655	ENST00000463592	KMT2C	chr7	152027686	-	CNTNAP2	chr7	146740999	+
intron-3CDS	ENST00000485241	ENST00000361727	KMT2C	chr7	152027686	-	CNTNAP2	chr7	146740999	+
intron-intron	ENST00000485241	ENST00000538075	KMT2C	chr7	152027686	-	CNTNAP2	chr7	146740999	+
intron-intron	ENST00000485241	ENST00000463592	KMT2C	chr7	152027686	-	CNTNAP2	chr7	146740999	+
Frame-shift	ENST00000262189	ENST00000361727	KMT2C	chr7	152132711	-	CNTNAP2	chr7	146471363	+
5CDS-intron	ENST00000262189	ENST00000538075	KMT2C	chr7	152132711	-	CNTNAP2	chr7	146471363	+
5CDS-intron	ENST00000262189	ENST00000463592	KMT2C	chr7	152132711	-	CNTNAP2	chr7	146471363	+
Frame-shift	ENST00000355193	ENST00000361727	KMT2C	chr7	152132711	-	CNTNAP2	chr7	146471363	+
5CDS-intron	ENST00000355193	ENST00000538075	KMT2C	chr7	152132711	-	CNTNAP2	chr7	146471363	+
5CDS-intron	ENST00000355193	ENST00000463592	KMT2C	chr7	152132711	-	CNTNAP2	chr7	146471363	+
intron-3CDS	ENST00000485655	ENST00000361727	KMT2C	chr7	152132711	-	CNTNAP2	chr7	146471363	+
intron-intron	ENST00000485655	ENST00000538075	KMT2C	chr7	152132711	-	CNTNAP2	chr7	146471363	+
intron-intron	ENST00000485655	ENST00000463592	KMT2C	chr7	152132711	-	CNTNAP2	chr7	146471363	+
intron-3CDS	ENST00000485241	ENST00000361727	KMT2C	chr7	152132711	-	CNTNAP2	chr7	146471363	+
intron-intron	ENST00000485241	ENST00000538075	KMT2C	chr7	152132711	-	CNTNAP2	chr7	146471363	+
intron-intron	ENST00000485241	ENST00000463592	KMT2C	chr7	152132711	-	CNTNAP2	chr7	146471363	+

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FusionProtFeatures for KMT2C_CNTNAP2

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
KMT2C Q8NEZ4	CNTNAP2 Q9UHC6

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Fusion gene ID: 19118

FusionGeneSummary for KMT2C_CNTNAP2

FusionProtFeatures for KMT2C_CNTNAP2