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Fusion gene ID: 22813

FusionGeneSummary for MTOR_CAMTA1

Fusion gene summary

Fusion gene information	Fusion gene name: MTOR_CAMTA1
	Fusion gene ID: 22813
		Hgene	Tgene
	Gene symbol	MTOR	CAMTA1
	Gene ID	2475	23261
	Gene name	mechanistic target of rapamycin kinase	calmodulin binding transcription activator 1
	Synonyms	FRAP\|FRAP1\|FRAP2\|RAFT1\|RAPT1\|SKS	CANPMR
	Cytomap	1p36.22	1p36.31-p36.23
	Type of gene	protein-coding	protein-coding
	Description	serine/threonine-protein kinase mTORFK506 binding protein 12-rapamycin associated protein 2FK506-binding protein 12-rapamycin complex-associated protein 1FKBP-rapamycin associated proteinFKBP12-rapamycin complex-associated protein 1mammalian target o	calmodulin-binding transcription activator 1
	Modification date	20180527	20180523
	UniProtAcc	P42345	Q9Y6Y1
	Ensembl transtripts involved in fusion gene	ENST00000361445, ENST00000376838, ENST00000495435,	ENST00000303635, ENST00000439411, ENST00000476163, ENST00000557126, ENST00000473578, ENST00000467404, ENST00000476864,
Fusion gene scores	* DoF score	8 X 7 X 6=336	15 X 13 X 5=975
	# samples	7	16
	** MAII score	log2(7/336*10)=-2.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(16/975*10)=-2.60733031374961 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: MTOR [Title/Abstract] AND CAMTA1 [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. Transcription factor involved fusion gene, inframe and retained DNA-binding 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	MTOR	GO:0001558	regulation of cell growth	18762023
Hgene	MTOR	GO:0001934	positive regulation of protein phosphorylation	20233713
Hgene	MTOR	GO:0006468	protein phosphorylation	12150926\|15467718\|18925875
Hgene	MTOR	GO:0009267	cellular response to starvation	28223137
Hgene	MTOR	GO:0016242	negative regulation of macroautophagy	25327288
Hgene	MTOR	GO:0016310	phosphorylation	11853878\|25327288
Hgene	MTOR	GO:0034198	cellular response to amino acid starvation	22424946
Hgene	MTOR	GO:0038202	TORC1 signaling	28223137
Hgene	MTOR	GO:0043200	response to amino acid	18497260
Hgene	MTOR	GO:0045727	positive regulation of translation	18762023
Hgene	MTOR	GO:0046777	protein autophosphorylation	15467718
Hgene	MTOR	GO:0071230	cellular response to amino acid stimulus	22424946
Hgene	MTOR	GO:0071233	cellular response to leucine	22424946
Hgene	MTOR	GO:1990253	cellular response to leucine starvation	22424946

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	GBM	TCGA-32-5222-01A	MTOR	chr1	11313896	-	CAMTA1	chr1	6880241	+

* 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	ENST00000361445	ENST00000303635	MTOR	chr1	11313896	-	CAMTA1	chr1	6880241	+
In-frame	ENST00000361445	ENST00000439411	MTOR	chr1	11313896	-	CAMTA1	chr1	6880241	+
5CDS-intron	ENST00000361445	ENST00000476163	MTOR	chr1	11313896	-	CAMTA1	chr1	6880241	+
5CDS-intron	ENST00000361445	ENST00000557126	MTOR	chr1	11313896	-	CAMTA1	chr1	6880241	+
5CDS-intron	ENST00000361445	ENST00000473578	MTOR	chr1	11313896	-	CAMTA1	chr1	6880241	+
5CDS-intron	ENST00000361445	ENST00000467404	MTOR	chr1	11313896	-	CAMTA1	chr1	6880241	+
5CDS-intron	ENST00000361445	ENST00000476864	MTOR	chr1	11313896	-	CAMTA1	chr1	6880241	+
intron-3CDS	ENST00000376838	ENST00000303635	MTOR	chr1	11313896	-	CAMTA1	chr1	6880241	+
intron-3CDS	ENST00000376838	ENST00000439411	MTOR	chr1	11313896	-	CAMTA1	chr1	6880241	+
intron-intron	ENST00000376838	ENST00000476163	MTOR	chr1	11313896	-	CAMTA1	chr1	6880241	+
intron-intron	ENST00000376838	ENST00000557126	MTOR	chr1	11313896	-	CAMTA1	chr1	6880241	+
intron-intron	ENST00000376838	ENST00000473578	MTOR	chr1	11313896	-	CAMTA1	chr1	6880241	+
intron-intron	ENST00000376838	ENST00000467404	MTOR	chr1	11313896	-	CAMTA1	chr1	6880241	+
intron-intron	ENST00000376838	ENST00000476864	MTOR	chr1	11313896	-	CAMTA1	chr1	6880241	+
intron-3CDS	ENST00000495435	ENST00000303635	MTOR	chr1	11313896	-	CAMTA1	chr1	6880241	+
intron-3CDS	ENST00000495435	ENST00000439411	MTOR	chr1	11313896	-	CAMTA1	chr1	6880241	+
intron-intron	ENST00000495435	ENST00000476163	MTOR	chr1	11313896	-	CAMTA1	chr1	6880241	+
intron-intron	ENST00000495435	ENST00000557126	MTOR	chr1	11313896	-	CAMTA1	chr1	6880241	+
intron-intron	ENST00000495435	ENST00000473578	MTOR	chr1	11313896	-	CAMTA1	chr1	6880241	+
intron-intron	ENST00000495435	ENST00000467404	MTOR	chr1	11313896	-	CAMTA1	chr1	6880241	+
intron-intron	ENST00000495435	ENST00000476864	MTOR	chr1	11313896	-	CAMTA1	chr1	6880241	+

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FusionProtFeatures for MTOR_CAMTA1

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

Hgene	Tgene
MTOR P42345	CAMTA1 Q9Y6Y1

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Fusion gene ID: 22813

FusionGeneSummary for MTOR_CAMTA1

FusionProtFeatures for MTOR_CAMTA1