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Fusion gene ID: 7804

FusionGeneSummary for COBLL1_SMYD3

Fusion gene summary

Fusion gene information	Fusion gene name: COBLL1_SMYD3
	Fusion gene ID: 7804
		Hgene	Tgene
	Gene symbol	COBLL1	SMYD3
	Gene ID	22837	64754
	Gene name	cordon-bleu WH2 repeat protein like 1	SET and MYND domain containing 3
	Synonyms	COBLR1	KMT3E\|ZMYND1\|ZNFN3A1\|bA74P14.1
	Cytomap	2q24.3	1q44
	Type of gene	protein-coding	protein-coding
	Description	cordon-bleu protein-like 1COBL-like 1	histone-lysine N-methyltransferase SMYD3SET and MYND domain-containing protein 3bA74P14.1 (novel protein)zinc finger MYND domain-containing protein 1zinc finger protein, subfamily 3A (MYND domain containing), 1zinc finger, MYND domain containing 1
	Modification date	20180523	20180519
	UniProtAcc	Q53SF7	Q9H7B4
	Ensembl transtripts involved in fusion gene	ENST00000375458, ENST00000342193, ENST00000409184, ENST00000392717, ENST00000194871, ENST00000491126,	ENST00000541742, ENST00000490107, ENST00000388985, ENST00000366517, ENST00000403792,
Fusion gene scores	* DoF score	7 X 5 X 7=245	17 X 9 X 13=1989
	# samples	10	31
	** MAII score	log2(10/245*10)=-1.29278174922785 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(31/1989*10)=-2.68170315555951 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: COBLL1 [Title/Abstract] AND SMYD3 [Title/Abstract] AND fusion [Title/Abstract]
Functional or gene categories assigned by FusionGDB annotation

* 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	RV	LUSC	TCGA-22-5474-01A	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-

* 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
In-frame	ENST00000375458	ENST00000541742	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-
In-frame	ENST00000375458	ENST00000490107	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-
In-frame	ENST00000375458	ENST00000388985	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-
5CDS-5UTR	ENST00000375458	ENST00000366517	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-
5CDS-intron	ENST00000375458	ENST00000403792	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-
In-frame	ENST00000342193	ENST00000541742	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-
In-frame	ENST00000342193	ENST00000490107	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-
In-frame	ENST00000342193	ENST00000388985	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-
5CDS-5UTR	ENST00000342193	ENST00000366517	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-
5CDS-intron	ENST00000342193	ENST00000403792	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-
Frame-shift	ENST00000409184	ENST00000541742	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-
Frame-shift	ENST00000409184	ENST00000490107	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-
Frame-shift	ENST00000409184	ENST00000388985	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-
5CDS-5UTR	ENST00000409184	ENST00000366517	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-
5CDS-intron	ENST00000409184	ENST00000403792	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-
Frame-shift	ENST00000392717	ENST00000541742	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-
Frame-shift	ENST00000392717	ENST00000490107	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-
Frame-shift	ENST00000392717	ENST00000388985	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-
5CDS-5UTR	ENST00000392717	ENST00000366517	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-
5CDS-intron	ENST00000392717	ENST00000403792	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-
Frame-shift	ENST00000194871	ENST00000541742	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-
Frame-shift	ENST00000194871	ENST00000490107	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-
Frame-shift	ENST00000194871	ENST00000388985	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-
5CDS-5UTR	ENST00000194871	ENST00000366517	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-
5CDS-intron	ENST00000194871	ENST00000403792	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-
5UTR-3CDS	ENST00000491126	ENST00000541742	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-
5UTR-3CDS	ENST00000491126	ENST00000490107	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-
5UTR-3CDS	ENST00000491126	ENST00000388985	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-
5UTR-5UTR	ENST00000491126	ENST00000366517	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-
5UTR-intron	ENST00000491126	ENST00000403792	COBLL1	chr2	165697666	-	SMYD3	chr1	246093239	-

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FusionProtFeatures for COBLL1_SMYD3

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

Hgene	Tgene
COBLL1 Q53SF7	SMYD3 Q9H7B4

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Fusion gene ID: 7804

FusionGeneSummary for COBLL1_SMYD3

FusionProtFeatures for COBLL1_SMYD3