	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

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
Inhibits NF-kappa-B activation. May participate in aregulatory mechanism that coordinates cellular responsescontrolled by NF-kappa-B transcription factor. May be a componentof the inflammasome, a protein complex which also includes PYCARD,NALP2 and CASP1 and whose function would be the activation ofproinflammatory caspases.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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FusionGeneSequence for CARD8_MYH14

For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for CARD8_MYH14

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page
.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene	Hgene's interactors	Tgene	Tgene's interactors
CARD8	CARD6, IKBKG, ELAVL1, FLNA, FLNC, CSRP2BP, DMAP1, BRCA2, YEATS2, TAB1, BCOR, CEP192, NFRKB, SRCAP, ZZZ3, ZNF318, LRIF1, MGA, MBIP, SETX, ZNHIT6, ATXN2, SALL2, ACTR6, TADA2A, PEAK1, VPS72, CHD8, WDR74, HDAC3, E2F6, TAB2, DPH1, HOXA5, MAP3K7, HOXD13, NPRL3, C15orf39, USP54, LHX6, PCGF6, CCDC101, LRCH2, TADA3	MYH14	SIRT7, SP1, FBXO25, GFI1B, PIK3R2, SHC1, ESR1, MDC1, PAN2, CDC73, CHUK, COG3, CTR9, MYH9, MYL12A, MYL6, MYL9, OTUD6B, PAF1, RABL6, LGR4, CCDC8, SUZ12, C7orf25, MGC39584, SGK1, ZBTB44, ETV5, FAM58A, MED20, DNMT1, ECH1, ABCD3, SRI, SSR3, NUP155, CEPT1, CHMP2B, GAN, MCM2, ZNF746, MYL3, UNC45A, FCF1, DLST, BRCA1

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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RelatedDrugs for CARD8_MYH14

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for CARD8_MYH14

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	CARD8	C0018099	Gout	1	CTD_human
Hgene	CARD8	C0028797	Occupational Diseases	1	CTD_human
Hgene	CARD8	C0032226	Pleural Diseases	1	CTD_human
Tgene	MYH14	C1833503	Deafness, Autosomal Dominant 4	2	CTD_human;UNIPROT
Tgene	MYH14	C0033578	Prostatic Neoplasms	1	CTD_human
Tgene	MYH14	C3280556	PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS	1	ORPHANET;UNIPROT

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Fusion gene ID: 5534

FusionGeneSummary for CARD8_MYH14

FusionProtFeatures for CARD8_MYH14

FusionGeneSequence for CARD8_MYH14

FusionGenePPI for CARD8_MYH14

RelatedDrugs for CARD8_MYH14

RelatedDiseases for CARD8_MYH14