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Fusion gene ID: 35580

FusionGeneSummary for SPATA5_MMRN1

Fusion gene summary

Fusion gene information	Fusion gene name: SPATA5_MMRN1
	Fusion gene ID: 35580
		Hgene	Tgene
	Gene symbol	SPATA5	MMRN1
	Gene ID	166378	22915
	Gene name	spermatogenesis associated 5	multimerin 1
	Synonyms	AFG2\|EHLMRS\|SPAF	ECM\|EMILIN4\|GPIa*\|MMRN
	Cytomap	4q28.1	4q22.1
	Type of gene	protein-coding	protein-coding
	Description	spermatogenesis-associated protein 5ATPase family gene 2 homologATPase family protein 2 homologspermatogenesis associated factor SPAFspermatogenesis-associated factor protein	multimerin-1EMILIN-4elastin microfibril interface located protein 4elastin microfibril interfacer 4endothelial cell multimeringlycoprotein Ia*
	Modification date	20180523	20180523
	UniProtAcc	Q8NB90	Q13201
	Ensembl transtripts involved in fusion gene	ENST00000274008, ENST00000422835,	ENST00000394980, ENST00000264790, ENST00000394981, ENST00000508372,
Fusion gene scores	* DoF score	3 X 4 X 2=24	1 X 1 X 1=1
	# samples	3	1
	** MAII score	log2(3/24*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(1/1*10)=3.32192809488736
Context	PubMed: SPATA5 [Title/Abstract] AND MMRN1 [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

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	BRCA	TCGA-EW-A6SA-01A	SPATA5	chr4	123868643	+	MMRN1	chr4	90872756	+
TCGA	LD	BRCA	TCGA-EW-A6SA-01A	SPATA5	chr4	123949550	+	MMRN1	chr4	90872756	+

* 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	ENST00000274008	ENST00000394980	SPATA5	chr4	123868643	+	MMRN1	chr4	90872756	+
In-frame	ENST00000274008	ENST00000264790	SPATA5	chr4	123868643	+	MMRN1	chr4	90872756	+
In-frame	ENST00000274008	ENST00000394981	SPATA5	chr4	123868643	+	MMRN1	chr4	90872756	+
In-frame	ENST00000274008	ENST00000508372	SPATA5	chr4	123868643	+	MMRN1	chr4	90872756	+
3UTR-3CDS	ENST00000422835	ENST00000394980	SPATA5	chr4	123868643	+	MMRN1	chr4	90872756	+
3UTR-3CDS	ENST00000422835	ENST00000264790	SPATA5	chr4	123868643	+	MMRN1	chr4	90872756	+
3UTR-3CDS	ENST00000422835	ENST00000394981	SPATA5	chr4	123868643	+	MMRN1	chr4	90872756	+
3UTR-3CDS	ENST00000422835	ENST00000508372	SPATA5	chr4	123868643	+	MMRN1	chr4	90872756	+
Frame-shift	ENST00000274008	ENST00000394980	SPATA5	chr4	123949550	+	MMRN1	chr4	90872756	+
Frame-shift	ENST00000274008	ENST00000264790	SPATA5	chr4	123949550	+	MMRN1	chr4	90872756	+
Frame-shift	ENST00000274008	ENST00000394981	SPATA5	chr4	123949550	+	MMRN1	chr4	90872756	+
Frame-shift	ENST00000274008	ENST00000508372	SPATA5	chr4	123949550	+	MMRN1	chr4	90872756	+
3UTR-3CDS	ENST00000422835	ENST00000394980	SPATA5	chr4	123949550	+	MMRN1	chr4	90872756	+
3UTR-3CDS	ENST00000422835	ENST00000264790	SPATA5	chr4	123949550	+	MMRN1	chr4	90872756	+
3UTR-3CDS	ENST00000422835	ENST00000394981	SPATA5	chr4	123949550	+	MMRN1	chr4	90872756	+
3UTR-3CDS	ENST00000422835	ENST00000508372	SPATA5	chr4	123949550	+	MMRN1	chr4	90872756	+

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FusionProtFeatures for SPATA5_MMRN1

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

Hgene	Tgene
SPATA5 Q8NB90	MMRN1 Q13201

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Fusion gene ID: 35580

FusionGeneSummary for SPATA5_MMRN1

FusionProtFeatures for SPATA5_MMRN1