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Fusion gene ID: 20720

FusionGeneSummary for MAML3_SCOC

Fusion gene summary

Fusion gene information	Fusion gene name: MAML3_SCOC
	Fusion gene ID: 20720
		Hgene	Tgene
	Gene symbol	MAML3	SCOC
	Gene ID	55534	60592
	Gene name	mastermind like transcriptional coactivator 3	short coiled-coil protein
	Synonyms	CAGH3\|ERDA3\|GDN\|MAM-2\|MAM2\|TNRC3\|mam-3	HRIHFB2072\|SCOCO\|UNC-69
	Cytomap	4q31.1	4q31.1
	Type of gene	protein-coding	protein-coding
	Description	mastermind-like protein 3CAG repeat containing (glia-derived nexin I alpha)expanded repeat domain, CAG/CTG 3polyglutamine richtrinucleotide repeat containing 3	short coiled-coil protein
	Modification date	20180524	20180519
	UniProtAcc	Q96JK9	Q9UIL1
	Ensembl transtripts involved in fusion gene	ENST00000509479, ENST00000327122, ENST00000398940,	ENST00000394205, ENST00000338517, ENST00000394203, ENST00000506322, ENST00000512749, ENST00000608372, ENST00000506597, ENST00000394201, ENST00000510586, ENST00000502535,
Fusion gene scores	* DoF score	14 X 7 X 6=588	1 X 1 X 1=1
	# samples	14	1
	** MAII score	log2(14/588*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(1/1*10)=3.32192809488736
Context	PubMed: MAML3 [Title/Abstract] AND SCOC [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	MAML3	GO:0007219	Notch signaling pathway	12370315
Hgene	MAML3	GO:0045944	positive regulation of transcription by RNA polymerase II	12370315
Tgene	SCOC	GO:0016239	positive regulation of macroautophagy	22354037

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	PRAD	TCGA-2A-A8VV-01A	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+

* 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	ENST00000509479	ENST00000394205	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+
Frame-shift	ENST00000509479	ENST00000338517	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+
Frame-shift	ENST00000509479	ENST00000394203	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+
5CDS-5UTR	ENST00000509479	ENST00000506322	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+
5CDS-5UTR	ENST00000509479	ENST00000512749	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+
5CDS-5UTR	ENST00000509479	ENST00000608372	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+
5CDS-5UTR	ENST00000509479	ENST00000506597	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+
5CDS-5UTR	ENST00000509479	ENST00000394201	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+
5CDS-5UTR	ENST00000509479	ENST00000510586	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+
5CDS-5UTR	ENST00000509479	ENST00000502535	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+
intron-3CDS	ENST00000327122	ENST00000394205	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+
intron-3CDS	ENST00000327122	ENST00000338517	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+
intron-3CDS	ENST00000327122	ENST00000394203	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+
intron-5UTR	ENST00000327122	ENST00000506322	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+
intron-5UTR	ENST00000327122	ENST00000512749	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+
intron-5UTR	ENST00000327122	ENST00000608372	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+
intron-5UTR	ENST00000327122	ENST00000506597	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+
intron-5UTR	ENST00000327122	ENST00000394201	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+
intron-5UTR	ENST00000327122	ENST00000510586	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+
intron-5UTR	ENST00000327122	ENST00000502535	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+
intron-3CDS	ENST00000398940	ENST00000394205	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+
intron-3CDS	ENST00000398940	ENST00000338517	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+
intron-3CDS	ENST00000398940	ENST00000394203	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+
intron-5UTR	ENST00000398940	ENST00000506322	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+
intron-5UTR	ENST00000398940	ENST00000512749	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+
intron-5UTR	ENST00000398940	ENST00000608372	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+
intron-5UTR	ENST00000398940	ENST00000506597	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+
intron-5UTR	ENST00000398940	ENST00000394201	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+
intron-5UTR	ENST00000398940	ENST00000510586	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+
intron-5UTR	ENST00000398940	ENST00000502535	MAML3	chr4	141074014	-	SCOC	chr4	141300275	+

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FusionProtFeatures for MAML3_SCOC

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

Hgene	Tgene
MAML3 Q96JK9	SCOC Q9UIL1

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Fusion gene ID: 20720

FusionGeneSummary for MAML3_SCOC

FusionProtFeatures for MAML3_SCOC