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Fusion gene ID: 3846

FusionGeneSummary for BAX_DHDH

Fusion gene summary

Fusion gene information	Fusion gene name: BAX_DHDH
	Fusion gene ID: 3846
		Hgene	Tgene
	Gene symbol	BAX	DHDH
	Gene ID	581	27294
	Gene name	BCL2 associated X, apoptosis regulator	dihydrodiol dehydrogenase
	Synonyms	BCL2L4	2DD\|HUM2DD
	Cytomap	19q13.33	19q13.33
	Type of gene	protein-coding	protein-coding
	Description	apoptosis regulator BAXBCL2 associated X proteinBCL2-associated X protein omegaBaxdelta2G9Baxdelta2G9omegaBaxdelta2omegabcl-2-like protein 4bcl2-L-4	trans-1,2-dihydrobenzene-1,2-diol dehydrogenase3-deoxyglucosone reductaseD-xylose 1-dehydrogenaseD-xylose-NADP dehydrogenasedihydrodiol dehydrogenase (dimeric)
	Modification date	20180527	20180523
	UniProtAcc	Q07812	Q9UQ10
	Ensembl transtripts involved in fusion gene	ENST00000539787, ENST00000345358, ENST00000391871, ENST00000415969, ENST00000354470, ENST00000293288,	ENST00000221403, ENST00000523250, ENST00000522614,
Fusion gene scores	* DoF score	5 X 3 X 4=60	3 X 2 X 2=12
	# samples	5	3
	** MAII score	log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context	PubMed: BAX [Title/Abstract] AND DHDH [Title/Abstract] AND fusion [Title/Abstract]
Functional or gene categories assigned by FusionGDB annotation	Oncogene involved fusion gene, in-frame and retained their domain. Tumor suppressor 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
Hgene	BAX	GO:0001783	B cell apoptotic process	15214043\|16424160
Hgene	BAX	GO:0001836	release of cytochrome c from mitochondria	9843949\|16199525\|17052454
Hgene	BAX	GO:0006915	apoptotic process	9660918
Hgene	BAX	GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	11912183
Hgene	BAX	GO:0008053	mitochondrial fusion	14769861
Hgene	BAX	GO:0008635	activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	15214043
Hgene	BAX	GO:0008637	apoptotic mitochondrial changes	9843949
Hgene	BAX	GO:0009636	response to toxic substance	16307838
Hgene	BAX	GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	9843949
Hgene	BAX	GO:0032091	negative regulation of protein binding	9388232
Hgene	BAX	GO:0032461	positive regulation of protein oligomerization	19805544
Hgene	BAX	GO:0032976	release of matrix enzymes from mitochondria	9843949
Hgene	BAX	GO:0043065	positive regulation of apoptotic process	17464193
Hgene	BAX	GO:0043496	regulation of protein homodimerization activity	9111042
Hgene	BAX	GO:0043525	positive regulation of neuron apoptotic process	15637643
Hgene	BAX	GO:0043653	mitochondrial fragmentation involved in apoptotic process	12499352
Hgene	BAX	GO:0051259	protein complex oligomerization	19074440
Hgene	BAX	GO:0051260	protein homooligomerization	14522999\|19767770
Hgene	BAX	GO:0051881	regulation of mitochondrial membrane potential	9843949
Hgene	BAX	GO:0090200	positive regulation of release of cytochrome c from mitochondria	14963330
Hgene	BAX	GO:0097190	apoptotic signaling pathway	16424160
Hgene	BAX	GO:0097191	extrinsic apoptotic signaling pathway	15214043
Hgene	BAX	GO:0097193	intrinsic apoptotic signaling pathway	9219694\|16462759
Hgene	BAX	GO:1990117	B cell receptor apoptotic signaling pathway	15214043

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-EW-A2FS-01A	BAX	chr19	49459590	+	DHDH	chr19	49438257	+

* 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	ENST00000539787	ENST00000221403	BAX	chr19	49459590	+	DHDH	chr19	49438257	+
In-frame	ENST00000539787	ENST00000523250	BAX	chr19	49459590	+	DHDH	chr19	49438257	+
In-frame	ENST00000539787	ENST00000522614	BAX	chr19	49459590	+	DHDH	chr19	49438257	+
In-frame	ENST00000345358	ENST00000221403	BAX	chr19	49459590	+	DHDH	chr19	49438257	+
In-frame	ENST00000345358	ENST00000523250	BAX	chr19	49459590	+	DHDH	chr19	49438257	+
In-frame	ENST00000345358	ENST00000522614	BAX	chr19	49459590	+	DHDH	chr19	49438257	+
3UTR-3CDS	ENST00000391871	ENST00000221403	BAX	chr19	49459590	+	DHDH	chr19	49438257	+
3UTR-3CDS	ENST00000391871	ENST00000523250	BAX	chr19	49459590	+	DHDH	chr19	49438257	+
3UTR-3CDS	ENST00000391871	ENST00000522614	BAX	chr19	49459590	+	DHDH	chr19	49438257	+
In-frame	ENST00000415969	ENST00000221403	BAX	chr19	49459590	+	DHDH	chr19	49438257	+
In-frame	ENST00000415969	ENST00000523250	BAX	chr19	49459590	+	DHDH	chr19	49438257	+
In-frame	ENST00000415969	ENST00000522614	BAX	chr19	49459590	+	DHDH	chr19	49438257	+
In-frame	ENST00000354470	ENST00000221403	BAX	chr19	49459590	+	DHDH	chr19	49438257	+
In-frame	ENST00000354470	ENST00000523250	BAX	chr19	49459590	+	DHDH	chr19	49438257	+
In-frame	ENST00000354470	ENST00000522614	BAX	chr19	49459590	+	DHDH	chr19	49438257	+
In-frame	ENST00000293288	ENST00000221403	BAX	chr19	49459590	+	DHDH	chr19	49438257	+
In-frame	ENST00000293288	ENST00000523250	BAX	chr19	49459590	+	DHDH	chr19	49438257	+
In-frame	ENST00000293288	ENST00000522614	BAX	chr19	49459590	+	DHDH	chr19	49438257	+

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FusionProtFeatures for BAX_DHDH

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

Hgene	Tgene
BAX Q07812	DHDH Q9UQ10

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Fusion gene ID: 3846

FusionGeneSummary for BAX_DHDH

FusionProtFeatures for BAX_DHDH