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Fusion gene ID: 34860

FusionGeneSummary for SMC3_MXI1

Fusion gene summary

Fusion gene information	Fusion gene name: SMC3_MXI1
	Fusion gene ID: 34860
		Hgene	Tgene
	Gene symbol	SMC3	MXI1
	Gene ID	9126	4601
	Gene name	structural maintenance of chromosomes 3	MAX interactor 1, dimerization protein
	Synonyms	BAM\|BMH\|CDLS3\|CSPG6\|HCAP\|SMC3L1	MAD2\|MXD2\|MXI\|bHLHc11
	Cytomap	10q25.2	10q25.2
	Type of gene	protein-coding	protein-coding
	Description	structural maintenance of chromosomes protein 3SMC protein 3basement membrane-associated chondroitin proteoglycanchondroitin sulfate proteoglycan 6 (bamacan)chromosome-associated polypeptide	max-interacting protein 1MAX dimerization protein 2Max-related transcription factorclass C basic helix-loop-helix protein 11
	Modification date	20180522	20180519
	UniProtAcc	Q9UQE7	P50539
	Ensembl transtripts involved in fusion gene	ENST00000361804, ENST00000462899,	ENST00000332674, ENST00000361248, ENST00000239007, ENST00000393134, ENST00000485566, ENST00000369612,
Fusion gene scores	* DoF score	4 X 4 X 2=32	5 X 5 X 4=100
	# samples	4	5
	** MAII score	log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: SMC3 [Title/Abstract] AND MXI1 [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. 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
Hgene	SMC3	GO:0044791	positive regulation by host of viral release from host cell	19444697
Hgene	SMC3	GO:0051321	meiotic cell cycle	12498344
Hgene	SMC3	GO:0051702	interaction with symbiont	19444697
Tgene	MXI1	GO:0000122	negative regulation of transcription by RNA polymerase II	11875718

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	ESCA	TCGA-L5-A4OQ-01A	SMC3	chr10	112350330	+	MXI1	chr10	112038938	+

* 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	ENST00000361804	ENST00000332674	SMC3	chr10	112350330	+	MXI1	chr10	112038938	+
In-frame	ENST00000361804	ENST00000361248	SMC3	chr10	112350330	+	MXI1	chr10	112038938	+
In-frame	ENST00000361804	ENST00000239007	SMC3	chr10	112350330	+	MXI1	chr10	112038938	+
In-frame	ENST00000361804	ENST00000393134	SMC3	chr10	112350330	+	MXI1	chr10	112038938	+
5CDS-3UTR	ENST00000361804	ENST00000485566	SMC3	chr10	112350330	+	MXI1	chr10	112038938	+
5CDS-3UTR	ENST00000361804	ENST00000369612	SMC3	chr10	112350330	+	MXI1	chr10	112038938	+
intron-3CDS	ENST00000462899	ENST00000332674	SMC3	chr10	112350330	+	MXI1	chr10	112038938	+
intron-3CDS	ENST00000462899	ENST00000361248	SMC3	chr10	112350330	+	MXI1	chr10	112038938	+
intron-3CDS	ENST00000462899	ENST00000239007	SMC3	chr10	112350330	+	MXI1	chr10	112038938	+
intron-3CDS	ENST00000462899	ENST00000393134	SMC3	chr10	112350330	+	MXI1	chr10	112038938	+
intron-3UTR	ENST00000462899	ENST00000485566	SMC3	chr10	112350330	+	MXI1	chr10	112038938	+
intron-3UTR	ENST00000462899	ENST00000369612	SMC3	chr10	112350330	+	MXI1	chr10	112038938	+

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FusionProtFeatures for SMC3_MXI1

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

Hgene	Tgene
SMC3 Q9UQE7	MXI1 P50539

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Fusion gene ID: 34860

FusionGeneSummary for SMC3_MXI1

FusionProtFeatures for SMC3_MXI1