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Fusion gene ID: 5783

FusionGeneSummary for CCDC127_SDHA

Fusion gene summary

Fusion gene information	Fusion gene name: CCDC127_SDHA
	Fusion gene ID: 5783
		Hgene	Tgene
	Gene symbol	CCDC127	SDHA
	Gene ID	133957	6389
	Gene name	coiled-coil domain containing 127	succinate dehydrogenase complex flavoprotein subunit A
	Synonyms	-	CMD1GG\|FP\|PGL5\|SDH1\|SDH2\|SDHF
	Cytomap	5p15.33	5p15.33
	Type of gene	protein-coding	protein-coding
	Description	coiled-coil domain-containing protein 127	succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrialflavoprotein subunit of complex IIsuccinate dehydrogenase complex, subunit A, flavoprotein (Fp)
	Modification date	20180519	20180523
	UniProtAcc	Q96BQ5	P31040
	Ensembl transtripts involved in fusion gene	ENST00000296824,	ENST00000264932, ENST00000504309, ENST00000510361, ENST00000507522,
Fusion gene scores	* DoF score	3 X 2 X 4=24	4 X 5 X 4=80
	# samples	4	5
	** MAII score	log2(4/24*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: CCDC127 [Title/Abstract] AND SDHA [Title/Abstract] AND fusion [Title/Abstract]
Functional or gene categories assigned by FusionGDB annotation	Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. 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
Tgene	SDHA	GO:0006105	succinate metabolic process	7550341
Tgene	SDHA	GO:0022904	respiratory electron transport chain	7550341
Tgene	SDHA	GO:0055114	oxidation-reduction process	7550341

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	LGG	TCGA-S9-A6UA-01A	CCDC127	chr5	216844	-	SDHA	chr5	233592	+
TCGA	RV	LUSC	TCGA-96-7544-01A	CCDC127	chr5	218208	-	SDHA	chr5	223597	+

* 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	ENST00000296824	ENST00000264932	CCDC127	chr5	216844	-	SDHA	chr5	233592	+
In-frame	ENST00000296824	ENST00000504309	CCDC127	chr5	216844	-	SDHA	chr5	233592	+
In-frame	ENST00000296824	ENST00000510361	CCDC127	chr5	216844	-	SDHA	chr5	233592	+
5CDS-intron	ENST00000296824	ENST00000507522	CCDC127	chr5	216844	-	SDHA	chr5	233592	+
5UTR-3CDS	ENST00000296824	ENST00000264932	CCDC127	chr5	218208	-	SDHA	chr5	223597	+
5UTR-3CDS	ENST00000296824	ENST00000504309	CCDC127	chr5	218208	-	SDHA	chr5	223597	+
5UTR-3CDS	ENST00000296824	ENST00000510361	CCDC127	chr5	218208	-	SDHA	chr5	223597	+
5UTR-intron	ENST00000296824	ENST00000507522	CCDC127	chr5	218208	-	SDHA	chr5	223597	+

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FusionProtFeatures for CCDC127_SDHA

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

Hgene	Tgene
CCDC127 Q96BQ5	SDHA P31040

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Fusion gene ID: 5783

FusionGeneSummary for CCDC127_SDHA

FusionProtFeatures for CCDC127_SDHA