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Fusion gene ID: 11996

FusionGeneSummary for ERGIC1_KCNIP1

Fusion gene summary

Fusion gene information	Fusion gene name: ERGIC1_KCNIP1
	Fusion gene ID: 11996
		Hgene	Tgene
	Gene symbol	ERGIC1	KCNIP1
	Gene ID	57222	30820
	Gene name	endoplasmic reticulum-golgi intermediate compartment 1	potassium voltage-gated channel interacting protein 1
	Synonyms	AMCN\|ERGIC-32\|ERGIC32\|NET24	KCHIP1\|VABP
	Cytomap	5q35.1	5q35.1
	Type of gene	protein-coding	protein-coding
	Description	endoplasmic reticulum-Golgi intermediate compartment protein 1ER-Golgi intermediate compartment 32 kDa proteinendoplasmic reticulum-golgi intermediate compartment (ERGIC) 1endoplasmic reticulum-golgi intermediate compartment 32 kDa protein	Kv channel-interacting protein 1A-type potassium channel modulatory protein 1Kv channel interacting protein 1potassium channel interacting protein 1vesicle APC-binding protein
	Modification date	20180523	20180522
	UniProtAcc	Q969X5	Q9NZI2
	Ensembl transtripts involved in fusion gene	ENST00000393784, ENST00000519860, ENST00000523291, ENST00000326654,	ENST00000518527, ENST00000377360, ENST00000328939, ENST00000390656, ENST00000520740, ENST00000434108, ENST00000411494,
Fusion gene scores	* DoF score	11 X 13 X 6=858	7 X 7 X 5=245
	# samples	20	10
	** MAII score	log2(20/858*10)=-2.10097764772482 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(10/245*10)=-1.29278174922785 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: ERGIC1 [Title/Abstract] AND KCNIP1 [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	ERGIC1	GO:0006888	ER to Golgi vesicle-mediated transport	15308636
Tgene	KCNIP1	GO:1901379	regulation of potassium ion transmembrane transport	10676964\|17187064

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	OV	TCGA-20-1684-01A	ERGIC1	chr5	172261436	+	KCNIP1	chr5	170145762	+

* 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
5CDS-intron	ENST00000393784	ENST00000518527	ERGIC1	chr5	172261436	+	KCNIP1	chr5	170145762	+
5CDS-intron	ENST00000393784	ENST00000377360	ERGIC1	chr5	172261436	+	KCNIP1	chr5	170145762	+
5CDS-intron	ENST00000393784	ENST00000328939	ERGIC1	chr5	172261436	+	KCNIP1	chr5	170145762	+
5CDS-intron	ENST00000393784	ENST00000390656	ERGIC1	chr5	172261436	+	KCNIP1	chr5	170145762	+
5CDS-5UTR	ENST00000393784	ENST00000520740	ERGIC1	chr5	172261436	+	KCNIP1	chr5	170145762	+
5CDS-5UTR	ENST00000393784	ENST00000434108	ERGIC1	chr5	172261436	+	KCNIP1	chr5	170145762	+
5CDS-5UTR	ENST00000393784	ENST00000411494	ERGIC1	chr5	172261436	+	KCNIP1	chr5	170145762	+
3UTR-intron	ENST00000519860	ENST00000518527	ERGIC1	chr5	172261436	+	KCNIP1	chr5	170145762	+
3UTR-intron	ENST00000519860	ENST00000377360	ERGIC1	chr5	172261436	+	KCNIP1	chr5	170145762	+
3UTR-intron	ENST00000519860	ENST00000328939	ERGIC1	chr5	172261436	+	KCNIP1	chr5	170145762	+
3UTR-intron	ENST00000519860	ENST00000390656	ERGIC1	chr5	172261436	+	KCNIP1	chr5	170145762	+
3UTR-5UTR	ENST00000519860	ENST00000520740	ERGIC1	chr5	172261436	+	KCNIP1	chr5	170145762	+
3UTR-5UTR	ENST00000519860	ENST00000434108	ERGIC1	chr5	172261436	+	KCNIP1	chr5	170145762	+
3UTR-5UTR	ENST00000519860	ENST00000411494	ERGIC1	chr5	172261436	+	KCNIP1	chr5	170145762	+
5CDS-intron	ENST00000523291	ENST00000518527	ERGIC1	chr5	172261436	+	KCNIP1	chr5	170145762	+
5CDS-intron	ENST00000523291	ENST00000377360	ERGIC1	chr5	172261436	+	KCNIP1	chr5	170145762	+
5CDS-intron	ENST00000523291	ENST00000328939	ERGIC1	chr5	172261436	+	KCNIP1	chr5	170145762	+
5CDS-intron	ENST00000523291	ENST00000390656	ERGIC1	chr5	172261436	+	KCNIP1	chr5	170145762	+
5CDS-5UTR	ENST00000523291	ENST00000520740	ERGIC1	chr5	172261436	+	KCNIP1	chr5	170145762	+
5CDS-5UTR	ENST00000523291	ENST00000434108	ERGIC1	chr5	172261436	+	KCNIP1	chr5	170145762	+
5CDS-5UTR	ENST00000523291	ENST00000411494	ERGIC1	chr5	172261436	+	KCNIP1	chr5	170145762	+
intron-intron	ENST00000326654	ENST00000518527	ERGIC1	chr5	172261436	+	KCNIP1	chr5	170145762	+
intron-intron	ENST00000326654	ENST00000377360	ERGIC1	chr5	172261436	+	KCNIP1	chr5	170145762	+
intron-intron	ENST00000326654	ENST00000328939	ERGIC1	chr5	172261436	+	KCNIP1	chr5	170145762	+
intron-intron	ENST00000326654	ENST00000390656	ERGIC1	chr5	172261436	+	KCNIP1	chr5	170145762	+
intron-5UTR	ENST00000326654	ENST00000520740	ERGIC1	chr5	172261436	+	KCNIP1	chr5	170145762	+
intron-5UTR	ENST00000326654	ENST00000434108	ERGIC1	chr5	172261436	+	KCNIP1	chr5	170145762	+
intron-5UTR	ENST00000326654	ENST00000411494	ERGIC1	chr5	172261436	+	KCNIP1	chr5	170145762	+

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FusionProtFeatures for ERGIC1_KCNIP1

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

Hgene	Tgene
ERGIC1 Q969X5	KCNIP1 Q9NZI2

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Fusion gene ID: 11996

FusionGeneSummary for ERGIC1_KCNIP1

FusionProtFeatures for ERGIC1_KCNIP1