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Fusion gene ID: 13628

FusionGeneSummary for FMR1_AFF2

Fusion gene summary

Fusion gene information	Fusion gene name: FMR1_AFF2
	Fusion gene ID: 13628
		Hgene	Tgene
	Gene symbol	FMR1	AFF2
	Gene ID	2332	2334
	Gene name	fragile X mental retardation 1	AF4/FMR2 family member 2
	Synonyms	FMRP\|FRAXA\|POF\|POF1	FMR2\|FMR2P\|FRAXE\|MRX2\|OX19
	Cytomap	Xq27.3	Xq28
	Type of gene	protein-coding	protein-coding
	Description	synaptic functional regulator FMR1fragile X mental retardation protein 1	AF4/FMR2 family member 2fragile X E mental retardation syndrome proteinfragile X mental retardation 2 proteinprotein FMR-2
	Modification date	20180523	20180523
	UniProtAcc	Q06787	P51816
	Ensembl transtripts involved in fusion gene	ENST00000218200, ENST00000370471, ENST00000370477, ENST00000334557, ENST00000439526, ENST00000370475, ENST00000370470, ENST00000440235, ENST00000492846,	ENST00000370460, ENST00000370457, ENST00000342251, ENST00000370458, ENST00000286437,
Fusion gene scores	* DoF score	1 X 1 X 1=1	2 X 2 X 2=8
	# samples	1	2
	** MAII score	log2(1/1*10)=3.32192809488736	log2(2/8*10)=1.32192809488736
Context	PubMed: FMR1 [Title/Abstract] AND AFF2 [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	FMR1	GO:0000381	regulation of alternative mRNA splicing, via spliceosome	18653529
Hgene	FMR1	GO:0002092	positive regulation of receptor internalization	25561520
Hgene	FMR1	GO:0006974	cellular response to DNA damage stimulus	24813610
Hgene	FMR1	GO:0033129	positive regulation of histone phosphorylation	24813610
Hgene	FMR1	GO:0045727	positive regulation of translation	19097999\|19166269
Hgene	FMR1	GO:0051489	regulation of filopodium assembly	16631377
Hgene	FMR1	GO:0060998	regulation of dendritic spine development	16631377
Hgene	FMR1	GO:0098586	cellular response to virus	24514761
Hgene	FMR1	GO:0098908	regulation of neuronal action potential	25561520
Hgene	FMR1	GO:1902416	positive regulation of mRNA binding	25464849
Hgene	FMR1	GO:2000637	positive regulation of gene silencing by miRNA	17057366
Hgene	FMR1	GO:2001022	positive regulation of response to DNA damage stimulus	24813610

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	LGG	TCGA-CS-4942-01A	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+

* 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	ENST00000218200	ENST00000370460	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
In-frame	ENST00000218200	ENST00000370457	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
In-frame	ENST00000218200	ENST00000342251	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
In-frame	ENST00000218200	ENST00000370458	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
5CDS-intron	ENST00000218200	ENST00000286437	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
In-frame	ENST00000370471	ENST00000370460	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
In-frame	ENST00000370471	ENST00000370457	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
In-frame	ENST00000370471	ENST00000342251	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
In-frame	ENST00000370471	ENST00000370458	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
5CDS-intron	ENST00000370471	ENST00000286437	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
In-frame	ENST00000370477	ENST00000370460	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
In-frame	ENST00000370477	ENST00000370457	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
In-frame	ENST00000370477	ENST00000342251	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
In-frame	ENST00000370477	ENST00000370458	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
5CDS-intron	ENST00000370477	ENST00000286437	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
In-frame	ENST00000334557	ENST00000370460	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
In-frame	ENST00000334557	ENST00000370457	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
In-frame	ENST00000334557	ENST00000342251	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
In-frame	ENST00000334557	ENST00000370458	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
5CDS-intron	ENST00000334557	ENST00000286437	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
In-frame	ENST00000439526	ENST00000370460	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
In-frame	ENST00000439526	ENST00000370457	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
In-frame	ENST00000439526	ENST00000342251	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
In-frame	ENST00000439526	ENST00000370458	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
5CDS-intron	ENST00000439526	ENST00000286437	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
In-frame	ENST00000370475	ENST00000370460	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
In-frame	ENST00000370475	ENST00000370457	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
In-frame	ENST00000370475	ENST00000342251	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
In-frame	ENST00000370475	ENST00000370458	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
5CDS-intron	ENST00000370475	ENST00000286437	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
In-frame	ENST00000370470	ENST00000370460	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
In-frame	ENST00000370470	ENST00000370457	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
In-frame	ENST00000370470	ENST00000342251	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
In-frame	ENST00000370470	ENST00000370458	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
5CDS-intron	ENST00000370470	ENST00000286437	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
intron-3CDS	ENST00000440235	ENST00000370460	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
intron-3CDS	ENST00000440235	ENST00000370457	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
intron-3CDS	ENST00000440235	ENST00000342251	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
intron-3CDS	ENST00000440235	ENST00000370458	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
intron-intron	ENST00000440235	ENST00000286437	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
intron-3CDS	ENST00000492846	ENST00000370460	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
intron-3CDS	ENST00000492846	ENST00000370457	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
intron-3CDS	ENST00000492846	ENST00000342251	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
intron-3CDS	ENST00000492846	ENST00000370458	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+
intron-intron	ENST00000492846	ENST00000286437	FMR1	chrX	147003503	+	AFF2	chrX	147733520	+

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FusionProtFeatures for FMR1_AFF2

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

Hgene	Tgene
FMR1 Q06787	AFF2 P51816

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Fusion gene ID: 13628

FusionGeneSummary for FMR1_AFF2

FusionProtFeatures for FMR1_AFF2