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Fusion gene ID: 30863

FusionGeneSummary for RCC1_PCMT1

Fusion gene summary

Fusion gene information	Fusion gene name: RCC1_PCMT1
	Fusion gene ID: 30863
		Hgene	Tgene
	Gene symbol	RCC1	PCMT1
	Gene ID	1104	5110
	Gene name	regulator of chromosome condensation 1	protein-L-isoaspartate (D-aspartate) O-methyltransferase
	Synonyms	CHC1\|RCC1-I\|SNHG3-RCC1	PIMT
	Cytomap	1p35.3	6q25.1
	Type of gene	protein-coding	protein-coding
	Description	regulator of chromosome condensationSNHG3-RCC1 readthroughcell cycle regulatory proteinguanine nucleotide-releasing protein	protein-L-isoaspartate(D-aspartate) O-methyltransferaseL-isoaspartyl protein carboxyl methyltransferaseprotein L-isoaspartyl/D-aspartyl methyltransferaseprotein-beta-aspartate methyltransferase
	Modification date	20180522	20180523
	UniProtAcc	P18754	P22061
	Ensembl transtripts involved in fusion gene	ENST00000398958, ENST00000373833, ENST00000373832, ENST00000373831, ENST00000429051,	ENST00000367384, ENST00000367378, ENST00000464889, ENST00000367380, ENST00000544496, ENST00000480010,
Fusion gene scores	* DoF score	9 X 6 X 10=540	3 X 2 X 3=18
	# samples	11	3
	** MAII score	log2(11/540*10)=-2.29545588352617 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context	PubMed: RCC1 [Title/Abstract] AND PCMT1 [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	RCC1	GO:0007052	mitotic spindle organization	15014043
Hgene	RCC1	GO:0007088	regulation of mitotic nuclear division	15014043
Hgene	RCC1	GO:0051290	protein heterotetramerization	11336674

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	TGCT	TCGA-2G-AAG0-01A	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+

* 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	ENST00000398958	ENST00000367384	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+
5UTR-3CDS	ENST00000398958	ENST00000367378	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+
5UTR-3CDS	ENST00000398958	ENST00000464889	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+
5UTR-3CDS	ENST00000398958	ENST00000367380	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+
5UTR-3CDS	ENST00000398958	ENST00000544496	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+
5UTR-intron	ENST00000398958	ENST00000480010	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+
5UTR-3CDS	ENST00000373833	ENST00000367384	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+
5UTR-3CDS	ENST00000373833	ENST00000367378	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+
5UTR-3CDS	ENST00000373833	ENST00000464889	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+
5UTR-3CDS	ENST00000373833	ENST00000367380	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+
5UTR-3CDS	ENST00000373833	ENST00000544496	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+
5UTR-intron	ENST00000373833	ENST00000480010	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+
intron-3CDS	ENST00000373832	ENST00000367384	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+
intron-3CDS	ENST00000373832	ENST00000367378	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+
intron-3CDS	ENST00000373832	ENST00000464889	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+
intron-3CDS	ENST00000373832	ENST00000367380	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+
intron-3CDS	ENST00000373832	ENST00000544496	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+
intron-intron	ENST00000373832	ENST00000480010	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+
intron-3CDS	ENST00000373831	ENST00000367384	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+
intron-3CDS	ENST00000373831	ENST00000367378	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+
intron-3CDS	ENST00000373831	ENST00000464889	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+
intron-3CDS	ENST00000373831	ENST00000367380	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+
intron-3CDS	ENST00000373831	ENST00000544496	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+
intron-intron	ENST00000373831	ENST00000480010	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+
intron-3CDS	ENST00000429051	ENST00000367384	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+
intron-3CDS	ENST00000429051	ENST00000367378	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+
intron-3CDS	ENST00000429051	ENST00000464889	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+
intron-3CDS	ENST00000429051	ENST00000367380	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+
intron-3CDS	ENST00000429051	ENST00000544496	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+
intron-intron	ENST00000429051	ENST00000480010	RCC1	chr1	28834672	+	PCMT1	chr6	150111090	+

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FusionProtFeatures for RCC1_PCMT1

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

Hgene	Tgene
RCC1 P18754	PCMT1 P22061

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Fusion gene ID: 30863

FusionGeneSummary for RCC1_PCMT1

FusionProtFeatures for RCC1_PCMT1