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Fusion gene ID: 24096

FusionGeneSummary for NF1_LRRC37B

Fusion gene summary

Fusion gene information	Fusion gene name: NF1_LRRC37B
	Fusion gene ID: 24096
		Hgene	Tgene
	Gene symbol	NF1	LRRC37B
	Gene ID	4763	114659
	Gene name	neurofibromin 1	leucine rich repeat containing 37B
	Synonyms	NFNS\|VRNF\|WSS	LRRC37
	Cytomap	17q11.2	17q11.2
	Type of gene	protein-coding	protein-coding
	Description	neurofibrominneurofibromatosis 1neurofibromatosis-related protein NF-1truncated neurofibromin 1	leucine-rich repeat-containing protein 37BC66 SLIT-like testicular protein
	Modification date	20180527	20180519
	UniProtAcc	P21359	Q96QE4
	Ensembl transtripts involved in fusion gene	ENST00000356175, ENST00000358273, ENST00000431387, ENST00000581113, ENST00000417592, ENST00000444181,	ENST00000543378, ENST00000327564, ENST00000394713, ENST00000584368, ENST00000341671, ENST00000581786,
Fusion gene scores	* DoF score	35 X 18 X 19=11970	6 X 6 X 6=216
	# samples	46	6
	** MAII score	log2(46/11970*10)=-4.70164548088649 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(6/216*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: NF1 [Title/Abstract] AND LRRC37B [Title/Abstract] AND fusion [Title/Abstract]
Functional or gene categories assigned by FusionGDB annotation	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.

* 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	NF1	GO:0043547	positive regulation of GTPase activity	2121371

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	LAML	TCGA-AB-2952-03B	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+

* 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	ENST00000356175	ENST00000543378	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
Frame-shift	ENST00000356175	ENST00000327564	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
Frame-shift	ENST00000356175	ENST00000394713	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
Frame-shift	ENST00000356175	ENST00000584368	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
Frame-shift	ENST00000356175	ENST00000341671	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
5CDS-intron	ENST00000356175	ENST00000581786	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
Frame-shift	ENST00000358273	ENST00000543378	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
Frame-shift	ENST00000358273	ENST00000327564	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
Frame-shift	ENST00000358273	ENST00000394713	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
Frame-shift	ENST00000358273	ENST00000584368	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
Frame-shift	ENST00000358273	ENST00000341671	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
5CDS-intron	ENST00000358273	ENST00000581786	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
Frame-shift	ENST00000431387	ENST00000543378	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
Frame-shift	ENST00000431387	ENST00000327564	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
Frame-shift	ENST00000431387	ENST00000394713	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
Frame-shift	ENST00000431387	ENST00000584368	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
Frame-shift	ENST00000431387	ENST00000341671	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
5CDS-intron	ENST00000431387	ENST00000581786	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
intron-3CDS	ENST00000581113	ENST00000543378	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
intron-3CDS	ENST00000581113	ENST00000327564	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
intron-3CDS	ENST00000581113	ENST00000394713	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
intron-3CDS	ENST00000581113	ENST00000584368	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
intron-3CDS	ENST00000581113	ENST00000341671	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
intron-intron	ENST00000581113	ENST00000581786	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
intron-3CDS	ENST00000417592	ENST00000543378	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
intron-3CDS	ENST00000417592	ENST00000327564	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
intron-3CDS	ENST00000417592	ENST00000394713	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
intron-3CDS	ENST00000417592	ENST00000584368	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
intron-3CDS	ENST00000417592	ENST00000341671	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
intron-intron	ENST00000417592	ENST00000581786	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
intron-3CDS	ENST00000444181	ENST00000543378	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
intron-3CDS	ENST00000444181	ENST00000327564	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
intron-3CDS	ENST00000444181	ENST00000394713	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
intron-3CDS	ENST00000444181	ENST00000584368	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
intron-3CDS	ENST00000444181	ENST00000341671	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+
intron-intron	ENST00000444181	ENST00000581786	NF1	chr17	29422387	+	LRRC37B	chr17	30372719	+

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FusionProtFeatures for NF1_LRRC37B

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

Hgene	Tgene
NF1 P21359	LRRC37B Q96QE4

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Fusion gene ID: 24096

FusionGeneSummary for NF1_LRRC37B

FusionProtFeatures for NF1_LRRC37B