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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:FGFR1-LETM2 (FusionGDB2 ID:30246)

Fusion Gene Summary for FGFR1-LETM2

Fusion gene summary

Fusion gene information	Fusion gene name: FGFR1-LETM2
	Fusion gene ID: 30246
		Hgene	Tgene
	Gene symbol	FGFR1	LETM2
	Gene ID	2260	137994
	Gene name	fibroblast growth factor receptor 1	leucine zipper and EF-hand containing transmembrane protein 2
	Synonyms	BFGFR\|CD331\|CEK\|ECCL\|FGFBR\|FGFR-1\|FLG\|FLT-2\|FLT2\|HBGFR\|HH2\|HRTFDS\|KAL2\|N-SAM\|OGD\|bFGF-R-1	SLC55A2
	Cytomap	8p11.23	8p11.23
	Type of gene	protein-coding	protein-coding
	Description	fibroblast growth factor receptor 1FGFR1/PLAG1 fusionFMS-like tyrosine kinase 2basic fibroblast growth factor receptor 1fms-related tyrosine kinase 2heparin-binding growth factor receptorhydroxyaryl-protein kinaseproto-oncogene c-Fgr	LETM1 domain-containing protein LETM2, mitochondrialLETM1 and EF-hand domain-containing protein 2leucine zipper-EF-hand containing transmembrane protein 1-like proteinleucine zipper-EF-hand containing transmembrane protein 2
	Modification date	20200329	20200313
	UniProtAcc	P11362	Q2VYF4
	Ensembl transtripts involved in fusion gene	ENST00000326324, ENST00000335922, ENST00000341462, ENST00000356207, ENST00000397091, ENST00000447712, ENST00000532791, ENST00000397103, ENST00000397108, ENST00000397113, ENST00000425967, ENST00000496629,	ENST00000297720, ENST00000379957, ENST00000519476, ENST00000523983, ENST00000524874, ENST00000527710, ENST00000528827,
Fusion gene scores	* DoF score	17 X 24 X 9=3672	13 X 8 X 8=832
	# samples	20	16
	** MAII score	log2(20/3672*10)=-4.19849415363908 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(16/832*10)=-2.37851162325373 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: FGFR1 [Title/Abstract] AND LETM2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	FGFR1(38325499)-LETM2(38245468), # samples:1 FGFR1(38269136)-LETM2(38249223), # samples:1
Anticipated loss of major functional domain due to fusion event.

* 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	FGFR1	GO:0008284	positive regulation of cell proliferation	8663044
Hgene	FGFR1	GO:0008543	fibroblast growth factor receptor signaling pathway	8663044
Hgene	FGFR1	GO:0010863	positive regulation of phospholipase C activity	18480409
Hgene	FGFR1	GO:0018108	peptidyl-tyrosine phosphorylation	8622701\|18480409
Hgene	FGFR1	GO:0043406	positive regulation of MAP kinase activity	8622701\|18480409
Hgene	FGFR1	GO:0046777	protein autophosphorylation	8622701
Hgene	FGFR1	GO:2000546	positive regulation of endothelial cell chemotaxis to fibroblast growth factor	21885851

Fusion gene breakpoints across FGFR1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across LETM2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	LUSC	TCGA-22-5480-01A	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
ChiTaRS5.0	N/A	AF173898	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-

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Fusion Gene ORF analysis for FGFR1-LETM2

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
5UTR-5UTR	ENST00000326324	ENST00000297720	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000326324	ENST00000379957	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000326324	ENST00000519476	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000326324	ENST00000523983	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000326324	ENST00000524874	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000335922	ENST00000297720	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000335922	ENST00000379957	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000335922	ENST00000519476	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000335922	ENST00000523983	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000335922	ENST00000524874	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000341462	ENST00000297720	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000341462	ENST00000379957	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000341462	ENST00000519476	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000341462	ENST00000523983	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000341462	ENST00000524874	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000356207	ENST00000297720	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000356207	ENST00000379957	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000356207	ENST00000519476	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000356207	ENST00000523983	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000356207	ENST00000524874	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000397091	ENST00000297720	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000397091	ENST00000379957	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000397091	ENST00000519476	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000397091	ENST00000523983	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000397091	ENST00000524874	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000447712	ENST00000297720	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000447712	ENST00000379957	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000447712	ENST00000519476	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000447712	ENST00000523983	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000447712	ENST00000524874	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000532791	ENST00000297720	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000532791	ENST00000379957	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000532791	ENST00000519476	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000532791	ENST00000523983	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-5UTR	ENST00000532791	ENST00000524874	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-intron	ENST00000326324	ENST00000527710	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-intron	ENST00000326324	ENST00000528827	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-intron	ENST00000335922	ENST00000527710	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-intron	ENST00000335922	ENST00000528827	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-intron	ENST00000341462	ENST00000527710	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-intron	ENST00000341462	ENST00000528827	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-intron	ENST00000356207	ENST00000527710	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-intron	ENST00000356207	ENST00000528827	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-intron	ENST00000397091	ENST00000527710	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-intron	ENST00000397091	ENST00000528827	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-intron	ENST00000447712	ENST00000527710	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-intron	ENST00000447712	ENST00000528827	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-intron	ENST00000532791	ENST00000527710	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
5UTR-intron	ENST00000532791	ENST00000528827	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-5UTR	ENST00000397103	ENST00000297720	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-5UTR	ENST00000397103	ENST00000379957	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-5UTR	ENST00000397103	ENST00000519476	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-5UTR	ENST00000397103	ENST00000523983	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-5UTR	ENST00000397103	ENST00000524874	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-5UTR	ENST00000397108	ENST00000297720	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-5UTR	ENST00000397108	ENST00000379957	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-5UTR	ENST00000397108	ENST00000519476	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-5UTR	ENST00000397108	ENST00000523983	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-5UTR	ENST00000397108	ENST00000524874	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-5UTR	ENST00000397113	ENST00000297720	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-5UTR	ENST00000397113	ENST00000379957	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-5UTR	ENST00000397113	ENST00000519476	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-5UTR	ENST00000397113	ENST00000523983	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-5UTR	ENST00000397113	ENST00000524874	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-5UTR	ENST00000425967	ENST00000297720	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-5UTR	ENST00000425967	ENST00000379957	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-5UTR	ENST00000425967	ENST00000519476	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-5UTR	ENST00000425967	ENST00000523983	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-5UTR	ENST00000425967	ENST00000524874	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-5UTR	ENST00000496629	ENST00000297720	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-5UTR	ENST00000496629	ENST00000379957	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-5UTR	ENST00000496629	ENST00000519476	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-5UTR	ENST00000496629	ENST00000523983	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-5UTR	ENST00000496629	ENST00000524874	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-intron	ENST00000326324	ENST00000297720	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000326324	ENST00000379957	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000326324	ENST00000519476	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000326324	ENST00000523983	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000326324	ENST00000524874	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000326324	ENST00000527710	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000326324	ENST00000528827	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000335922	ENST00000297720	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000335922	ENST00000379957	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000335922	ENST00000519476	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000335922	ENST00000523983	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000335922	ENST00000524874	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000335922	ENST00000527710	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000335922	ENST00000528827	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000341462	ENST00000297720	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000341462	ENST00000379957	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000341462	ENST00000519476	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000341462	ENST00000523983	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000341462	ENST00000524874	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000341462	ENST00000527710	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000341462	ENST00000528827	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000356207	ENST00000297720	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000356207	ENST00000379957	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000356207	ENST00000519476	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000356207	ENST00000523983	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000356207	ENST00000524874	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000356207	ENST00000527710	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000356207	ENST00000528827	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000397091	ENST00000297720	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000397091	ENST00000379957	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000397091	ENST00000519476	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000397091	ENST00000523983	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000397091	ENST00000524874	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000397091	ENST00000527710	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000397091	ENST00000528827	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000397103	ENST00000297720	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000397103	ENST00000379957	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000397103	ENST00000519476	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000397103	ENST00000523983	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000397103	ENST00000524874	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000397103	ENST00000527710	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-intron	ENST00000397103	ENST00000527710	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000397103	ENST00000528827	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-intron	ENST00000397103	ENST00000528827	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000397108	ENST00000297720	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000397108	ENST00000379957	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000397108	ENST00000519476	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000397108	ENST00000523983	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000397108	ENST00000524874	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000397108	ENST00000527710	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-intron	ENST00000397108	ENST00000527710	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000397108	ENST00000528827	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-intron	ENST00000397108	ENST00000528827	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000397113	ENST00000297720	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000397113	ENST00000379957	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000397113	ENST00000519476	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000397113	ENST00000523983	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000397113	ENST00000524874	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000397113	ENST00000527710	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-intron	ENST00000397113	ENST00000527710	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000397113	ENST00000528827	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-intron	ENST00000397113	ENST00000528827	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000425967	ENST00000297720	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000425967	ENST00000379957	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000425967	ENST00000519476	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000425967	ENST00000523983	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000425967	ENST00000524874	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000425967	ENST00000527710	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-intron	ENST00000425967	ENST00000527710	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000425967	ENST00000528827	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-intron	ENST00000425967	ENST00000528827	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000447712	ENST00000297720	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000447712	ENST00000379957	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000447712	ENST00000519476	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000447712	ENST00000523983	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000447712	ENST00000524874	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000447712	ENST00000527710	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000447712	ENST00000528827	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000496629	ENST00000297720	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000496629	ENST00000379957	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000496629	ENST00000519476	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000496629	ENST00000523983	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000496629	ENST00000524874	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000496629	ENST00000527710	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-intron	ENST00000496629	ENST00000527710	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000496629	ENST00000528827	FGFR1	chr8	38325499	-	LETM2	chr8	38245468	+
intron-intron	ENST00000496629	ENST00000528827	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000532791	ENST00000297720	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000532791	ENST00000379957	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000532791	ENST00000519476	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000532791	ENST00000523983	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000532791	ENST00000524874	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000532791	ENST00000527710	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-
intron-intron	ENST00000532791	ENST00000528827	FGFR1	chr8	38269136	-	LETM2	chr8	38249223	-

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

No-coding score

Coding score

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Fusion Genomic Features for FGFR1-LETM2

FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.

Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	1-p	p (fusion gene breakpoint)
FGFR1	chr8	38325498	-	LETM2	chr8	38245467	+	1.18E-05	0.9999882
FGFR1	chr8	38325498	-	LETM2	chr8	38245467	+	1.18E-05	0.9999882

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for FGFR1-LETM2

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:38325499/:38245468)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.

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

Hgene	Tgene
FGFR1 P11362	LETM2 Q2VYF4
FUNCTION: Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration. Required for normal mesoderm patterning and correct axial organization during embryonic development, normal skeletogenesis and normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Phosphorylates PLCG1, FRS2, GAB1 and SHB. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Promotes phosphorylation of SHC1, STAT1 and PTPN11/SHP2. In the nucleus, enhances RPS6KA1 and CREB1 activity and contributes to the regulation of transcription. FGFR1 signaling is down-regulated by IL17RD/SEF, and by FGFR1 ubiquitination, internalization and degradation. {ECO:0000250\|UniProtKB:P16092, ECO:0000269\|PubMed:10830168, ECO:0000269\|PubMed:11353842, ECO:0000269\|PubMed:12181353, ECO:0000269\|PubMed:1379697, ECO:0000269\|PubMed:1379698, ECO:0000269\|PubMed:15117958, ECO:0000269\|PubMed:16597617, ECO:0000269\|PubMed:17311277, ECO:0000269\|PubMed:17623664, ECO:0000269\|PubMed:18480409, ECO:0000269\|PubMed:19224897, ECO:0000269\|PubMed:19261810, ECO:0000269\|PubMed:19665973, ECO:0000269\|PubMed:20133753, ECO:0000269\|PubMed:20139426, ECO:0000269\|PubMed:21765395, ECO:0000269\|PubMed:8622701, ECO:0000269\|PubMed:8663044}.

Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at
download page

* Minus value of BPloci means that the break pointn is located before the CDS.

- In-frame and retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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Fusion Gene Sequence for FGFR1-LETM2

For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for FGFR1-LETM2

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for FGFR1-LETM2

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for FGFR1-LETM2

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source