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Fusion gene ID: 3017

FusionGeneSummary for ASPH_EIF4EBP1

Fusion gene summary

Fusion gene information	Fusion gene name: ASPH_EIF4EBP1
	Fusion gene ID: 3017
		Hgene	Tgene
	Gene symbol	ASPH	EIF4EBP1
	Gene ID	444	1978
	Gene name	aspartate beta-hydroxylase	eukaryotic translation initiation factor 4E binding protein 1
	Synonyms	AAH\|BAH\|CASQ2BP1\|FDLAB\|HAAH\|JCTN\|junctin	4E-BP1\|4EBP1\|BP-1\|PHAS-I
	Cytomap	8q12.3	8p11.23
	Type of gene	protein-coding	protein-coding
	Description	aspartyl/asparaginyl beta-hydroxylaseA beta H-J-JASP beta-hydroxylasecardiac junctinhumbugjunctatepeptide-aspartate beta-dioxygenase	eukaryotic translation initiation factor 4E-binding protein 1eIF4E-binding protein 1phosphorylated heat- and acid-stable protein regulated by insulin 1
	Modification date	20180519	20180523
	UniProtAcc	Q12797	Q13541
	Ensembl transtripts involved in fusion gene	ENST00000541428, ENST00000379454, ENST00000523897, ENST00000522919, ENST00000356457, ENST00000518068, ENST00000517903, ENST00000445642, ENST00000517847, ENST00000522835, ENST00000517856, ENST00000389204, ENST00000522603, ENST00000379449, ENST00000517661,	ENST00000338825, ENST00000520657,
Fusion gene scores	* DoF score	11 X 9 X 6=594	9 X 1 X 5=45
	# samples	12	9
	** MAII score	log2(12/594*10)=-2.30742852519225 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(9/45*10)=1 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context	PubMed: ASPH [Title/Abstract] AND EIF4EBP1 [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	ASPH	GO:0045862	positive regulation of proteolysis	18387192
Hgene	ASPH	GO:0097202	activation of cysteine-type endopeptidase activity	18387192
Tgene	EIF4EBP1	GO:0031929	TOR signaling	12150926\|22578813
Tgene	EIF4EBP1	GO:0045947	negative regulation of translational initiation	22578813

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	LIHC	TCGA-KR-A7K8-01A	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+

* 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
Frame-shift	ENST00000541428	ENST00000338825	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+
5CDS-3UTR	ENST00000541428	ENST00000520657	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+
Frame-shift	ENST00000379454	ENST00000338825	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+
5CDS-3UTR	ENST00000379454	ENST00000520657	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+
intron-3CDS	ENST00000523897	ENST00000338825	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+
intron-3UTR	ENST00000523897	ENST00000520657	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+
intron-3CDS	ENST00000522919	ENST00000338825	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+
intron-3UTR	ENST00000522919	ENST00000520657	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+
intron-3CDS	ENST00000356457	ENST00000338825	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+
intron-3UTR	ENST00000356457	ENST00000520657	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+
intron-3CDS	ENST00000518068	ENST00000338825	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+
intron-3UTR	ENST00000518068	ENST00000520657	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+
intron-3CDS	ENST00000517903	ENST00000338825	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+
intron-3UTR	ENST00000517903	ENST00000520657	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+
intron-3CDS	ENST00000445642	ENST00000338825	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+
intron-3UTR	ENST00000445642	ENST00000520657	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+
intron-3CDS	ENST00000517847	ENST00000338825	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+
intron-3UTR	ENST00000517847	ENST00000520657	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+
intron-3CDS	ENST00000522835	ENST00000338825	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+
intron-3UTR	ENST00000522835	ENST00000520657	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+
intron-3CDS	ENST00000517856	ENST00000338825	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+
intron-3UTR	ENST00000517856	ENST00000520657	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+
intron-3CDS	ENST00000389204	ENST00000338825	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+
intron-3UTR	ENST00000389204	ENST00000520657	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+
intron-3CDS	ENST00000522603	ENST00000338825	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+
intron-3UTR	ENST00000522603	ENST00000520657	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+
intron-3CDS	ENST00000379449	ENST00000338825	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+
intron-3UTR	ENST00000379449	ENST00000520657	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+
intron-3CDS	ENST00000517661	ENST00000338825	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+
intron-3UTR	ENST00000517661	ENST00000520657	ASPH	chr8	62430087	-	EIF4EBP1	chr8	37914599	+

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FusionProtFeatures for ASPH_EIF4EBP1

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

Hgene	Tgene
ASPH Q12797	EIF4EBP1 Q13541

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Fusion gene ID: 3017

FusionGeneSummary for ASPH_EIF4EBP1

FusionProtFeatures for ASPH_EIF4EBP1