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Fusion gene ID: 5534

FusionGeneSummary for CARD8_MYH14

Fusion gene summary

Fusion gene information	Fusion gene name: CARD8_MYH14
	Fusion gene ID: 5534
		Hgene	Tgene
	Gene symbol	CARD8	MYH14
	Gene ID	22900	79784
	Gene name	caspase recruitment domain family member 8	myosin heavy chain 14
	Synonyms	CARDINAL\|DACAR\|DAKAR\|NDPP\|NDPP1\|TUCAN	DFNA4\|DFNA4A\|FP17425\|MHC16\|MYH17\|NMHC II-C\|NMHC-II-C\|PNMHH\|myosin
	Cytomap	19q13.33	19q13.33
	Type of gene	protein-coding	protein-coding
	Description	caspase recruitment domain-containing protein 8CARD inhibitor of NF-kappaB-activating ligandsapoptotic protein NDPP1tumor up-regulated CARD-containing antagonist of CASP9tumor up-regulated CARD-containing antagonist of caspase nine	myosin-14MYH14 variant proteinmyosin heavy chain, non-muscle IIcmyosin, heavy chain 14, non-musclemyosin, heavy polypeptide 14non-muscle myosin heavy chain IIcnonmuscle myosin heavy chain II-C
	Modification date	20180523	20180519
	UniProtAcc	Q9Y2G2	Q7Z406
	Ensembl transtripts involved in fusion gene	ENST00000520753, ENST00000521613, ENST00000519940, ENST00000519332, ENST00000520007, ENST00000600800, ENST00000357778, ENST00000391898, ENST00000359009, ENST00000447740, ENST00000520153, ENST00000520015, ENST00000522431,	ENST00000598205, ENST00000376970, ENST00000425460, ENST00000440075, ENST00000601313, ENST00000262269, ENST00000596571,
Fusion gene scores	* DoF score	7 X 7 X 4=196	7 X 8 X 6=336
	# samples	7	8
	** MAII score	log2(7/196*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(8/336*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: CARD8 [Title/Abstract] AND MYH14 [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
Hgene	CARD8	GO:0031665	negative regulation of lipopolysaccharide-mediated signaling pathway	11821383
Hgene	CARD8	GO:0043124	negative regulation of I-kappaB kinase/NF-kappaB signaling	11551959
Hgene	CARD8	GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	11821383\|15030775
Hgene	CARD8	GO:0050713	negative regulation of interleukin-1 beta secretion	11821383
Hgene	CARD8	GO:0050718	positive regulation of interleukin-1 beta secretion	15030775
Hgene	CARD8	GO:0097340	inhibition of cysteine-type endopeptidase activity	11821383
Tgene	MYH14	GO:0031032	actomyosin structure organization	24072716

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	ESCA	TCGA-L5-A891-01A	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+

* 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
5UTR-3CDS	ENST00000520753	ENST00000598205	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000520753	ENST00000376970	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000520753	ENST00000425460	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000520753	ENST00000440075	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000520753	ENST00000601313	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000520753	ENST00000262269	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000520753	ENST00000596571	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000521613	ENST00000598205	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000521613	ENST00000376970	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000521613	ENST00000425460	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000521613	ENST00000440075	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000521613	ENST00000601313	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000521613	ENST00000262269	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000521613	ENST00000596571	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000519940	ENST00000598205	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000519940	ENST00000376970	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000519940	ENST00000425460	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000519940	ENST00000440075	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000519940	ENST00000601313	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000519940	ENST00000262269	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000519940	ENST00000596571	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000519332	ENST00000598205	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000519332	ENST00000376970	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000519332	ENST00000425460	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000519332	ENST00000440075	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000519332	ENST00000601313	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000519332	ENST00000262269	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000519332	ENST00000596571	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000520007	ENST00000598205	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000520007	ENST00000376970	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000520007	ENST00000425460	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000520007	ENST00000440075	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000520007	ENST00000601313	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000520007	ENST00000262269	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
5UTR-3CDS	ENST00000520007	ENST00000596571	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000600800	ENST00000598205	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000600800	ENST00000376970	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000600800	ENST00000425460	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000600800	ENST00000440075	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000600800	ENST00000601313	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000600800	ENST00000262269	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000600800	ENST00000596571	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000357778	ENST00000598205	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000357778	ENST00000376970	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000357778	ENST00000425460	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000357778	ENST00000440075	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000357778	ENST00000601313	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000357778	ENST00000262269	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000357778	ENST00000596571	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000391898	ENST00000598205	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000391898	ENST00000376970	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000391898	ENST00000425460	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000391898	ENST00000440075	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000391898	ENST00000601313	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000391898	ENST00000262269	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000391898	ENST00000596571	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000359009	ENST00000598205	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000359009	ENST00000376970	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000359009	ENST00000425460	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000359009	ENST00000440075	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000359009	ENST00000601313	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000359009	ENST00000262269	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000359009	ENST00000596571	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000447740	ENST00000598205	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000447740	ENST00000376970	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000447740	ENST00000425460	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000447740	ENST00000440075	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000447740	ENST00000601313	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000447740	ENST00000262269	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000447740	ENST00000596571	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000520153	ENST00000598205	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000520153	ENST00000376970	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000520153	ENST00000425460	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000520153	ENST00000440075	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000520153	ENST00000601313	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000520153	ENST00000262269	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000520153	ENST00000596571	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000520015	ENST00000598205	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000520015	ENST00000376970	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000520015	ENST00000425460	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000520015	ENST00000440075	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000520015	ENST00000601313	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000520015	ENST00000262269	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000520015	ENST00000596571	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000522431	ENST00000598205	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000522431	ENST00000376970	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000522431	ENST00000425460	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000522431	ENST00000440075	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000522431	ENST00000601313	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000522431	ENST00000262269	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+
intron-3CDS	ENST00000522431	ENST00000596571	CARD8	chr19	48759049	-	MYH14	chr19	50752244	+

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FusionProtFeatures for CARD8_MYH14

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

Hgene	Tgene
CARD8 Q9Y2G2	MYH14 Q7Z406

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Fusion gene ID: 5534

FusionGeneSummary for CARD8_MYH14

FusionProtFeatures for CARD8_MYH14