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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:GFM1-SMARCA2

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: GFM1-SMARCA2
	FusionPDB ID: 32948
	FusionGDB2.0 ID: 32948
		Hgene	Tgene
	Gene symbol	GFM1	SMARCA2
	Gene ID	85476	6595
	Gene name	G elongation factor mitochondrial 1	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
	Synonyms	COXPD1\|EFG\|EFG1\|EFGM\|EGF1\|GFM\|hEFG1\|mtEF-G1	BAF190\|BRM\|NCBRS\|SNF2\|SNF2L2\|SNF2LA\|SWI2\|Sth1p\|hBRM\|hSNF2a
	Cytomap	3q25.32	9p24.3
	Type of gene	protein-coding	protein-coding
	Description	elongation factor G, mitochondrialG translation elongation factor, mitochondrialmitochondrial elongation factor Gmitochondrial elongation factor G1	probable global transcription activator SNF2L2ATP-dependent helicase SMARCA2BAF190BBRG1-associated factor 190BSNF2-alphaSNF2/SWI2-like protein 2SWI/SNF-related matrix-associated actin-dependent regulator of chromatin a2brahma homologglobal transcr
	Modification date	20200313	20200315
	UniProtAcc	Q96RP9	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000264263, ENST00000478576, ENST00000486715, ENST00000490261,	ENST00000302401, ENST00000324954, ENST00000382185, ENST00000382186, ENST00000491574, ENST00000349721, ENST00000357248, ENST00000382194, ENST00000382203,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	7 X 7 X 5=245	15 X 14 X 8=1680
	# samples	7	16
	** MAII score	log2(7/245*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(16/1680*10)=-3.39231742277876 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: GFM1 [Title/Abstract] AND SMARCA2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	GFM1(158362483)-SMARCA2(2086981), # samples:1
Anticipated loss of major functional domain due to fusion event.	GFM1-SMARCA2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. GFM1-SMARCA2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. GFM1-SMARCA2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. GFM1-SMARCA2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.

* 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	GFM1	GO:0070125	mitochondrial translational elongation	19716793
Tgene	SMARCA2	GO:0008285	negative regulation of cell proliferation	14660596
Tgene	SMARCA2	GO:0045892	negative regulation of transcription, DNA-templated	12065415
Tgene	SMARCA2	GO:0045893	positive regulation of transcription, DNA-templated	17984088
Tgene	SMARCA2	GO:0045944	positive regulation of transcription by RNA polymerase II	15774904

Fusion gene breakpoints across GFM1 (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 SMARCA2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

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
ChiTaRS5.0	N/A	DA528491	GFM1	chr3	158362483	+	SMARCA2	chr9	2086981	+

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Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

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)
ENST00000486715	GFM1	chr3	158362483	+	ENST00000357248	SMARCA2	chr9	2086981	+	2946	21	96	2060	654
ENST00000486715	GFM1	chr3	158362483	+	ENST00000349721	SMARCA2	chr9	2086981	+	3000	21	96	2114	672
ENST00000486715	GFM1	chr3	158362483	+	ENST00000382203	SMARCA2	chr9	2086981	+	3000	21	96	2114	672
ENST00000486715	GFM1	chr3	158362483	+	ENST00000382194	SMARCA2	chr9	2086981	+	2899	21	96	2060	654
ENST00000478576	GFM1	chr3	158362483	+	ENST00000357248	SMARCA2	chr9	2086981	+	2946	21	96	2060	654
ENST00000478576	GFM1	chr3	158362483	+	ENST00000349721	SMARCA2	chr9	2086981	+	3000	21	96	2114	672
ENST00000478576	GFM1	chr3	158362483	+	ENST00000382203	SMARCA2	chr9	2086981	+	3000	21	96	2114	672
ENST00000478576	GFM1	chr3	158362483	+	ENST00000382194	SMARCA2	chr9	2086981	+	2899	21	96	2060	654
ENST00000264263	GFM1	chr3	158362483	+	ENST00000357248	SMARCA2	chr9	2086981	+	2946	21	96	2060	654
ENST00000264263	GFM1	chr3	158362483	+	ENST00000349721	SMARCA2	chr9	2086981	+	3000	21	96	2114	672
ENST00000264263	GFM1	chr3	158362483	+	ENST00000382203	SMARCA2	chr9	2086981	+	3000	21	96	2114	672
ENST00000264263	GFM1	chr3	158362483	+	ENST00000382194	SMARCA2	chr9	2086981	+	2899	21	96	2060	654

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
ENST00000486715	ENST00000357248	GFM1	chr3	158362483	+	SMARCA2	chr9	2086981	+	0.000470642	0.99952936
ENST00000486715	ENST00000349721	GFM1	chr3	158362483	+	SMARCA2	chr9	2086981	+	0.000513498	0.99948645
ENST00000486715	ENST00000382203	GFM1	chr3	158362483	+	SMARCA2	chr9	2086981	+	0.000513498	0.99948645
ENST00000486715	ENST00000382194	GFM1	chr3	158362483	+	SMARCA2	chr9	2086981	+	0.000591693	0.99940836
ENST00000478576	ENST00000357248	GFM1	chr3	158362483	+	SMARCA2	chr9	2086981	+	0.000470642	0.99952936
ENST00000478576	ENST00000349721	GFM1	chr3	158362483	+	SMARCA2	chr9	2086981	+	0.000513498	0.99948645
ENST00000478576	ENST00000382203	GFM1	chr3	158362483	+	SMARCA2	chr9	2086981	+	0.000513498	0.99948645
ENST00000478576	ENST00000382194	GFM1	chr3	158362483	+	SMARCA2	chr9	2086981	+	0.000591693	0.99940836
ENST00000264263	ENST00000357248	GFM1	chr3	158362483	+	SMARCA2	chr9	2086981	+	0.000470642	0.99952936
ENST00000264263	ENST00000349721	GFM1	chr3	158362483	+	SMARCA2	chr9	2086981	+	0.000513498	0.99948645
ENST00000264263	ENST00000382203	GFM1	chr3	158362483	+	SMARCA2	chr9	2086981	+	0.000513498	0.99948645
ENST00000264263	ENST00000382194	GFM1	chr3	158362483	+	SMARCA2	chr9	2086981	+	0.000591693	0.99940836

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Fusion Amino Acid Sequences

For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>32948_32948_1_GFM1-SMARCA2_GFM1_chr3_158362483_ENST00000264263_SMARCA2_chr9_2086981_ENST00000349721_length(amino acids)=672AA_BP=
MTGERVDLNEEETILIIRRLHKVLRPFLLRRLKKEVESQLPEKVEYVIKCDMSALQKILYRHMQAKGILLTDGSEKDKKGKGGAKTLMNT
IMQLRKICNHPYMFQHIEESFAEHLGYSNGVINGAELYRASGKFELLDRILPKLRATNHRVLLFCQMTSLMTIMEDYFAFRNFLYLRLDG
TTKSEDRAALLKKFNEPGSQYFIFLLSTRAGGLGLNLQAADTVVIFDSDWNPHQDLQAQDRAHRIGQQNEVRVLRLCTVNSVEEKILAAA
KYKLNVDQKVIQAGMFDQKSSSHERRAFLQAILEHEEENEEEDEVPDDETLNQMIARREEEFDLFMRMDMDRRREDARNPKRKPRLMEED
ELPSWIIKDDAEVERLTCEEEEEKIFGRGSRQRRDVDYSDALTEKQWLRAIEDGNLEEMEEEVRLKKRKRRRNVDKDPAKEDVEKAKKRR
GRPPAEKLSPNPPKLTKQMNAIIDTVINYKDRCNVEKVPSNSQLEIEGNSSGRQLSEVFIQLPSRKELPEYYELIRKPVDFKKIKERIRN
HKYRSLGDLEKDVMLLCHNAQTFNLEGSQIYEDSIVLQSVFKSARQKIAKEEESEDESNEEEEEEDEEESESEAKSVKVKIKLNKKDDKG

--------------------------------------------------------------

>32948_32948_2_GFM1-SMARCA2_GFM1_chr3_158362483_ENST00000264263_SMARCA2_chr9_2086981_ENST00000357248_length(amino acids)=654AA_BP=
MTGERVDLNEEETILIIRRLHKVLRPFLLRRLKKEVESQLPEKVEYVIKCDMSALQKILYRHMQAKGILLTDGSEKDKKGKGGAKTLMNT
IMQLRKICNHPYMFQHIEESFAEHLGYSNGVINGAELYRASGKFELLDRILPKLRATNHRVLLFCQMTSLMTIMEDYFAFRNFLYLRLDG
TTKSEDRAALLKKFNEPGSQYFIFLLSTRAGGLGLNLQAADTVVIFDSDWNPHQDLQAQDRAHRIGQQNEVRVLRLCTVNSVEEKILAAA
KYKLNVDQKVIQAGMFDQKSSSHERRAFLQAILEHEEENEEEDEVPDDETLNQMIARREEEFDLFMRMDMDRRREDARNPKRKPRLMEED
ELPSWIIKDDAEVERLTCEEEEEKIFGRGSRQRRDVDYSDALTEKQWLRAIEDGNLEEMEEEVRLKKRKRRRNVDKDPAKEDVEKAKKRR
GRPPAEKLSPNPPKLTKQMNAIIDTVINYKDSSGRQLSEVFIQLPSRKELPEYYELIRKPVDFKKIKERIRNHKYRSLGDLEKDVMLLCH
NAQTFNLEGSQIYEDSIVLQSVFKSARQKIAKEEESEDESNEEEEEEDEEESESEAKSVKVKIKLNKKDDKGRDKGKGKKRPNRGKAKPV

--------------------------------------------------------------

>32948_32948_3_GFM1-SMARCA2_GFM1_chr3_158362483_ENST00000264263_SMARCA2_chr9_2086981_ENST00000382194_length(amino acids)=654AA_BP=
MTGERVDLNEEETILIIRRLHKVLRPFLLRRLKKEVESQLPEKVEYVIKCDMSALQKILYRHMQAKGILLTDGSEKDKKGKGGAKTLMNT
IMQLRKICNHPYMFQHIEESFAEHLGYSNGVINGAELYRASGKFELLDRILPKLRATNHRVLLFCQMTSLMTIMEDYFAFRNFLYLRLDG
TTKSEDRAALLKKFNEPGSQYFIFLLSTRAGGLGLNLQAADTVVIFDSDWNPHQDLQAQDRAHRIGQQNEVRVLRLCTVNSVEEKILAAA
KYKLNVDQKVIQAGMFDQKSSSHERRAFLQAILEHEEENEEEDEVPDDETLNQMIARREEEFDLFMRMDMDRRREDARNPKRKPRLMEED
ELPSWIIKDDAEVERLTCEEEEEKIFGRGSRQRRDVDYSDALTEKQWLRAIEDGNLEEMEEEVRLKKRKRRRNVDKDPAKEDVEKAKKRR
GRPPAEKLSPNPPKLTKQMNAIIDTVINYKDSSGRQLSEVFIQLPSRKELPEYYELIRKPVDFKKIKERIRNHKYRSLGDLEKDVMLLCH
NAQTFNLEGSQIYEDSIVLQSVFKSARQKIAKEEESEDESNEEEEEEDEEESESEAKSVKVKIKLNKKDDKGRDKGKGKKRPNRGKAKPV

--------------------------------------------------------------

>32948_32948_4_GFM1-SMARCA2_GFM1_chr3_158362483_ENST00000264263_SMARCA2_chr9_2086981_ENST00000382203_length(amino acids)=672AA_BP=
MTGERVDLNEEETILIIRRLHKVLRPFLLRRLKKEVESQLPEKVEYVIKCDMSALQKILYRHMQAKGILLTDGSEKDKKGKGGAKTLMNT
IMQLRKICNHPYMFQHIEESFAEHLGYSNGVINGAELYRASGKFELLDRILPKLRATNHRVLLFCQMTSLMTIMEDYFAFRNFLYLRLDG
TTKSEDRAALLKKFNEPGSQYFIFLLSTRAGGLGLNLQAADTVVIFDSDWNPHQDLQAQDRAHRIGQQNEVRVLRLCTVNSVEEKILAAA
KYKLNVDQKVIQAGMFDQKSSSHERRAFLQAILEHEEENEEEDEVPDDETLNQMIARREEEFDLFMRMDMDRRREDARNPKRKPRLMEED
ELPSWIIKDDAEVERLTCEEEEEKIFGRGSRQRRDVDYSDALTEKQWLRAIEDGNLEEMEEEVRLKKRKRRRNVDKDPAKEDVEKAKKRR
GRPPAEKLSPNPPKLTKQMNAIIDTVINYKDRCNVEKVPSNSQLEIEGNSSGRQLSEVFIQLPSRKELPEYYELIRKPVDFKKIKERIRN
HKYRSLGDLEKDVMLLCHNAQTFNLEGSQIYEDSIVLQSVFKSARQKIAKEEESEDESNEEEEEEDEEESESEAKSVKVKIKLNKKDDKG

--------------------------------------------------------------

>32948_32948_5_GFM1-SMARCA2_GFM1_chr3_158362483_ENST00000478576_SMARCA2_chr9_2086981_ENST00000349721_length(amino acids)=672AA_BP=
MTGERVDLNEEETILIIRRLHKVLRPFLLRRLKKEVESQLPEKVEYVIKCDMSALQKILYRHMQAKGILLTDGSEKDKKGKGGAKTLMNT
IMQLRKICNHPYMFQHIEESFAEHLGYSNGVINGAELYRASGKFELLDRILPKLRATNHRVLLFCQMTSLMTIMEDYFAFRNFLYLRLDG
TTKSEDRAALLKKFNEPGSQYFIFLLSTRAGGLGLNLQAADTVVIFDSDWNPHQDLQAQDRAHRIGQQNEVRVLRLCTVNSVEEKILAAA
KYKLNVDQKVIQAGMFDQKSSSHERRAFLQAILEHEEENEEEDEVPDDETLNQMIARREEEFDLFMRMDMDRRREDARNPKRKPRLMEED
ELPSWIIKDDAEVERLTCEEEEEKIFGRGSRQRRDVDYSDALTEKQWLRAIEDGNLEEMEEEVRLKKRKRRRNVDKDPAKEDVEKAKKRR
GRPPAEKLSPNPPKLTKQMNAIIDTVINYKDRCNVEKVPSNSQLEIEGNSSGRQLSEVFIQLPSRKELPEYYELIRKPVDFKKIKERIRN
HKYRSLGDLEKDVMLLCHNAQTFNLEGSQIYEDSIVLQSVFKSARQKIAKEEESEDESNEEEEEEDEEESESEAKSVKVKIKLNKKDDKG

--------------------------------------------------------------

>32948_32948_6_GFM1-SMARCA2_GFM1_chr3_158362483_ENST00000478576_SMARCA2_chr9_2086981_ENST00000357248_length(amino acids)=654AA_BP=
MTGERVDLNEEETILIIRRLHKVLRPFLLRRLKKEVESQLPEKVEYVIKCDMSALQKILYRHMQAKGILLTDGSEKDKKGKGGAKTLMNT
IMQLRKICNHPYMFQHIEESFAEHLGYSNGVINGAELYRASGKFELLDRILPKLRATNHRVLLFCQMTSLMTIMEDYFAFRNFLYLRLDG
TTKSEDRAALLKKFNEPGSQYFIFLLSTRAGGLGLNLQAADTVVIFDSDWNPHQDLQAQDRAHRIGQQNEVRVLRLCTVNSVEEKILAAA
KYKLNVDQKVIQAGMFDQKSSSHERRAFLQAILEHEEENEEEDEVPDDETLNQMIARREEEFDLFMRMDMDRRREDARNPKRKPRLMEED
ELPSWIIKDDAEVERLTCEEEEEKIFGRGSRQRRDVDYSDALTEKQWLRAIEDGNLEEMEEEVRLKKRKRRRNVDKDPAKEDVEKAKKRR
GRPPAEKLSPNPPKLTKQMNAIIDTVINYKDSSGRQLSEVFIQLPSRKELPEYYELIRKPVDFKKIKERIRNHKYRSLGDLEKDVMLLCH
NAQTFNLEGSQIYEDSIVLQSVFKSARQKIAKEEESEDESNEEEEEEDEEESESEAKSVKVKIKLNKKDDKGRDKGKGKKRPNRGKAKPV

--------------------------------------------------------------

>32948_32948_7_GFM1-SMARCA2_GFM1_chr3_158362483_ENST00000478576_SMARCA2_chr9_2086981_ENST00000382194_length(amino acids)=654AA_BP=
MTGERVDLNEEETILIIRRLHKVLRPFLLRRLKKEVESQLPEKVEYVIKCDMSALQKILYRHMQAKGILLTDGSEKDKKGKGGAKTLMNT
IMQLRKICNHPYMFQHIEESFAEHLGYSNGVINGAELYRASGKFELLDRILPKLRATNHRVLLFCQMTSLMTIMEDYFAFRNFLYLRLDG
TTKSEDRAALLKKFNEPGSQYFIFLLSTRAGGLGLNLQAADTVVIFDSDWNPHQDLQAQDRAHRIGQQNEVRVLRLCTVNSVEEKILAAA
KYKLNVDQKVIQAGMFDQKSSSHERRAFLQAILEHEEENEEEDEVPDDETLNQMIARREEEFDLFMRMDMDRRREDARNPKRKPRLMEED
ELPSWIIKDDAEVERLTCEEEEEKIFGRGSRQRRDVDYSDALTEKQWLRAIEDGNLEEMEEEVRLKKRKRRRNVDKDPAKEDVEKAKKRR
GRPPAEKLSPNPPKLTKQMNAIIDTVINYKDSSGRQLSEVFIQLPSRKELPEYYELIRKPVDFKKIKERIRNHKYRSLGDLEKDVMLLCH
NAQTFNLEGSQIYEDSIVLQSVFKSARQKIAKEEESEDESNEEEEEEDEEESESEAKSVKVKIKLNKKDDKGRDKGKGKKRPNRGKAKPV

--------------------------------------------------------------

>32948_32948_8_GFM1-SMARCA2_GFM1_chr3_158362483_ENST00000478576_SMARCA2_chr9_2086981_ENST00000382203_length(amino acids)=672AA_BP=
MTGERVDLNEEETILIIRRLHKVLRPFLLRRLKKEVESQLPEKVEYVIKCDMSALQKILYRHMQAKGILLTDGSEKDKKGKGGAKTLMNT
IMQLRKICNHPYMFQHIEESFAEHLGYSNGVINGAELYRASGKFELLDRILPKLRATNHRVLLFCQMTSLMTIMEDYFAFRNFLYLRLDG
TTKSEDRAALLKKFNEPGSQYFIFLLSTRAGGLGLNLQAADTVVIFDSDWNPHQDLQAQDRAHRIGQQNEVRVLRLCTVNSVEEKILAAA
KYKLNVDQKVIQAGMFDQKSSSHERRAFLQAILEHEEENEEEDEVPDDETLNQMIARREEEFDLFMRMDMDRRREDARNPKRKPRLMEED
ELPSWIIKDDAEVERLTCEEEEEKIFGRGSRQRRDVDYSDALTEKQWLRAIEDGNLEEMEEEVRLKKRKRRRNVDKDPAKEDVEKAKKRR
GRPPAEKLSPNPPKLTKQMNAIIDTVINYKDRCNVEKVPSNSQLEIEGNSSGRQLSEVFIQLPSRKELPEYYELIRKPVDFKKIKERIRN
HKYRSLGDLEKDVMLLCHNAQTFNLEGSQIYEDSIVLQSVFKSARQKIAKEEESEDESNEEEEEEDEEESESEAKSVKVKIKLNKKDDKG

--------------------------------------------------------------

>32948_32948_9_GFM1-SMARCA2_GFM1_chr3_158362483_ENST00000486715_SMARCA2_chr9_2086981_ENST00000349721_length(amino acids)=672AA_BP=
MTGERVDLNEEETILIIRRLHKVLRPFLLRRLKKEVESQLPEKVEYVIKCDMSALQKILYRHMQAKGILLTDGSEKDKKGKGGAKTLMNT
IMQLRKICNHPYMFQHIEESFAEHLGYSNGVINGAELYRASGKFELLDRILPKLRATNHRVLLFCQMTSLMTIMEDYFAFRNFLYLRLDG
TTKSEDRAALLKKFNEPGSQYFIFLLSTRAGGLGLNLQAADTVVIFDSDWNPHQDLQAQDRAHRIGQQNEVRVLRLCTVNSVEEKILAAA
KYKLNVDQKVIQAGMFDQKSSSHERRAFLQAILEHEEENEEEDEVPDDETLNQMIARREEEFDLFMRMDMDRRREDARNPKRKPRLMEED
ELPSWIIKDDAEVERLTCEEEEEKIFGRGSRQRRDVDYSDALTEKQWLRAIEDGNLEEMEEEVRLKKRKRRRNVDKDPAKEDVEKAKKRR
GRPPAEKLSPNPPKLTKQMNAIIDTVINYKDRCNVEKVPSNSQLEIEGNSSGRQLSEVFIQLPSRKELPEYYELIRKPVDFKKIKERIRN
HKYRSLGDLEKDVMLLCHNAQTFNLEGSQIYEDSIVLQSVFKSARQKIAKEEESEDESNEEEEEEDEEESESEAKSVKVKIKLNKKDDKG

--------------------------------------------------------------

>32948_32948_10_GFM1-SMARCA2_GFM1_chr3_158362483_ENST00000486715_SMARCA2_chr9_2086981_ENST00000357248_length(amino acids)=654AA_BP=
MTGERVDLNEEETILIIRRLHKVLRPFLLRRLKKEVESQLPEKVEYVIKCDMSALQKILYRHMQAKGILLTDGSEKDKKGKGGAKTLMNT
IMQLRKICNHPYMFQHIEESFAEHLGYSNGVINGAELYRASGKFELLDRILPKLRATNHRVLLFCQMTSLMTIMEDYFAFRNFLYLRLDG
TTKSEDRAALLKKFNEPGSQYFIFLLSTRAGGLGLNLQAADTVVIFDSDWNPHQDLQAQDRAHRIGQQNEVRVLRLCTVNSVEEKILAAA
KYKLNVDQKVIQAGMFDQKSSSHERRAFLQAILEHEEENEEEDEVPDDETLNQMIARREEEFDLFMRMDMDRRREDARNPKRKPRLMEED
ELPSWIIKDDAEVERLTCEEEEEKIFGRGSRQRRDVDYSDALTEKQWLRAIEDGNLEEMEEEVRLKKRKRRRNVDKDPAKEDVEKAKKRR
GRPPAEKLSPNPPKLTKQMNAIIDTVINYKDSSGRQLSEVFIQLPSRKELPEYYELIRKPVDFKKIKERIRNHKYRSLGDLEKDVMLLCH
NAQTFNLEGSQIYEDSIVLQSVFKSARQKIAKEEESEDESNEEEEEEDEEESESEAKSVKVKIKLNKKDDKGRDKGKGKKRPNRGKAKPV

--------------------------------------------------------------

>32948_32948_11_GFM1-SMARCA2_GFM1_chr3_158362483_ENST00000486715_SMARCA2_chr9_2086981_ENST00000382194_length(amino acids)=654AA_BP=
MTGERVDLNEEETILIIRRLHKVLRPFLLRRLKKEVESQLPEKVEYVIKCDMSALQKILYRHMQAKGILLTDGSEKDKKGKGGAKTLMNT
IMQLRKICNHPYMFQHIEESFAEHLGYSNGVINGAELYRASGKFELLDRILPKLRATNHRVLLFCQMTSLMTIMEDYFAFRNFLYLRLDG
TTKSEDRAALLKKFNEPGSQYFIFLLSTRAGGLGLNLQAADTVVIFDSDWNPHQDLQAQDRAHRIGQQNEVRVLRLCTVNSVEEKILAAA
KYKLNVDQKVIQAGMFDQKSSSHERRAFLQAILEHEEENEEEDEVPDDETLNQMIARREEEFDLFMRMDMDRRREDARNPKRKPRLMEED
ELPSWIIKDDAEVERLTCEEEEEKIFGRGSRQRRDVDYSDALTEKQWLRAIEDGNLEEMEEEVRLKKRKRRRNVDKDPAKEDVEKAKKRR
GRPPAEKLSPNPPKLTKQMNAIIDTVINYKDSSGRQLSEVFIQLPSRKELPEYYELIRKPVDFKKIKERIRNHKYRSLGDLEKDVMLLCH
NAQTFNLEGSQIYEDSIVLQSVFKSARQKIAKEEESEDESNEEEEEEDEEESESEAKSVKVKIKLNKKDDKGRDKGKGKKRPNRGKAKPV

--------------------------------------------------------------

>32948_32948_12_GFM1-SMARCA2_GFM1_chr3_158362483_ENST00000486715_SMARCA2_chr9_2086981_ENST00000382203_length(amino acids)=672AA_BP=
MTGERVDLNEEETILIIRRLHKVLRPFLLRRLKKEVESQLPEKVEYVIKCDMSALQKILYRHMQAKGILLTDGSEKDKKGKGGAKTLMNT
IMQLRKICNHPYMFQHIEESFAEHLGYSNGVINGAELYRASGKFELLDRILPKLRATNHRVLLFCQMTSLMTIMEDYFAFRNFLYLRLDG
TTKSEDRAALLKKFNEPGSQYFIFLLSTRAGGLGLNLQAADTVVIFDSDWNPHQDLQAQDRAHRIGQQNEVRVLRLCTVNSVEEKILAAA
KYKLNVDQKVIQAGMFDQKSSSHERRAFLQAILEHEEENEEEDEVPDDETLNQMIARREEEFDLFMRMDMDRRREDARNPKRKPRLMEED
ELPSWIIKDDAEVERLTCEEEEEKIFGRGSRQRRDVDYSDALTEKQWLRAIEDGNLEEMEEEVRLKKRKRRRNVDKDPAKEDVEKAKKRR
GRPPAEKLSPNPPKLTKQMNAIIDTVINYKDRCNVEKVPSNSQLEIEGNSSGRQLSEVFIQLPSRKELPEYYELIRKPVDFKKIKERIRN
HKYRSLGDLEKDVMLLCHNAQTFNLEGSQIYEDSIVLQSVFKSARQKIAKEEESEDESNEEEEEEDEEESESEAKSVKVKIKLNKKDDKG

--------------------------------------------------------------

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Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr3:158362483/chr9:2086981)
- 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
GFM1 Q96RP9	.
FUNCTION: Mitochondrial GTPase that catalyzes the GTP-dependent ribosomal translocation step during translation elongation. During this step, the ribosome changes from the pre-translocational (PRE) to the post-translocational (POST) state as the newly formed A-site-bound peptidyl-tRNA and P-site-bound deacylated tRNA move to the P and E sites, respectively. Catalyzes the coordinated movement of the two tRNA molecules, the mRNA and conformational changes in the ribosome. Does not mediate the disassembly of ribosomes from messenger RNA at the termination of mitochondrial protein biosynthesis. {ECO:0000255\|HAMAP-Rule:MF_03061, ECO:0000269\|PubMed:19716793}.	FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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.

- 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

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000349721

1297_1301

1591.0

Compositional bias

Note=Poly-Glu

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000349721

1518_1529

1591.0

Compositional bias

Note=Poly-Glu

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000349721

216_238

1591.0

Compositional bias

Note=Poly-Gln

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000349721

245_253

1591.0

Compositional bias

Note=Poly-Gln

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000349721

559_562

1591.0

Compositional bias

Note=Poly-Arg

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000349721

643_650

1591.0

Compositional bias

Note=Poly-Glu

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000357248

1297_1301

1573.0

Compositional bias

Note=Poly-Glu

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000357248

1518_1529

1573.0

Compositional bias

Note=Poly-Glu

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000357248

216_238

1573.0

Compositional bias

Note=Poly-Gln

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000357248

245_253

1573.0

Compositional bias

Note=Poly-Gln

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000357248

559_562

1573.0

Compositional bias

Note=Poly-Arg

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000357248

643_650

1573.0

Compositional bias

Note=Poly-Glu

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000382194

1297_1301

1573.0

Compositional bias

Note=Poly-Glu

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000382194

1518_1529

1573.0

Compositional bias

Note=Poly-Glu

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000382194

216_238

1573.0

Compositional bias

Note=Poly-Gln

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000382194

245_253

1573.0

Compositional bias

Note=Poly-Gln

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000382194

559_562

1573.0

Compositional bias

Note=Poly-Arg

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000382194

643_650

1573.0

Compositional bias

Note=Poly-Glu

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000382203

1297_1301

1591.0

Compositional bias

Note=Poly-Glu

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000382203

1518_1529

1591.0

Compositional bias

Note=Poly-Glu

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000382203

216_238

1591.0

Compositional bias

Note=Poly-Gln

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000382203

245_253

1591.0

Compositional bias

Note=Poly-Gln

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000382203

559_562

1591.0

Compositional bias

Note=Poly-Arg

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000382203

643_650

1591.0

Compositional bias

Note=Poly-Glu

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000349721

1054_1216

1591.0

Domain

Helicase C-terminal

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000349721

1419_1489

1591.0

Domain

Bromo

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000349721

173_208

1591.0

Domain

QLQ

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000349721

436_508

1591.0

Domain

HSA

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000349721

736_901

1591.0

Domain

Helicase ATP-binding

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000357248

1054_1216

1573.0

Domain

Helicase C-terminal

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000357248

1419_1489

1573.0

Domain

Bromo

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000357248

173_208

1573.0

Domain

QLQ

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000357248

436_508

1573.0

Domain

HSA

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000357248

736_901

1573.0

Domain

Helicase ATP-binding

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000382194

1054_1216

1573.0

Domain

Helicase C-terminal

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000382194

1419_1489

1573.0

Domain

Bromo

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000382194

173_208

1573.0

Domain

QLQ

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000382194

436_508

1573.0

Domain

HSA

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000382194

736_901

1573.0

Domain

Helicase ATP-binding

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000382203

1054_1216

1591.0

Domain

Helicase C-terminal

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000382203

1419_1489

1591.0

Domain

Bromo

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000382203

173_208

1591.0

Domain

QLQ

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000382203

436_508

1591.0

Domain

HSA

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000382203

736_901

1591.0

Domain

Helicase ATP-binding

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000349721

851_854

1591.0

Motif

Note=DEGH box

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000357248

851_854

1573.0

Motif

Note=DEGH box

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000382194

851_854

1573.0

Motif

Note=DEGH box

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000382203

851_854

1591.0

Motif

Note=DEGH box

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000349721

749_756

1591.0

Nucleotide binding

ATP

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000357248

749_756

1573.0

Nucleotide binding

ATP

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000382194

749_756

1573.0

Nucleotide binding

ATP

Tgene

SMARCA2

chr3:158362483

chr9:2086981

ENST00000382203

749_756

1591.0

Nucleotide binding

ATP

- 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

Hgene

GFM1

chr3:158362483

chr9:2086981

ENST00000264263

44_321

771.0

Domain

Note=tr-type G

Hgene

GFM1

chr3:158362483

chr9:2086981

ENST00000486715

44_321

752.0

Domain

Note=tr-type G

Hgene

GFM1

chr3:158362483

chr9:2086981

ENST00000264263

120_124

771.0

Nucleotide binding

GTP

Hgene

GFM1

chr3:158362483

chr9:2086981

ENST00000264263

174_177

771.0

Nucleotide binding

GTP

Hgene

GFM1

chr3:158362483

chr9:2086981

ENST00000264263

53_60

771.0

Nucleotide binding

GTP

Hgene

GFM1

chr3:158362483

chr9:2086981

ENST00000486715

120_124

752.0

Nucleotide binding

GTP

Hgene

GFM1

chr3:158362483

chr9:2086981

ENST00000486715

174_177

752.0

Nucleotide binding

GTP

Hgene

GFM1

chr3:158362483

chr9:2086981

ENST00000486715

53_60

752.0

Nucleotide binding

GTP

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Fusion Protein-Protein Interaction

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 from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
GFM1
SMARCA2

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs to GFM1-SMARCA2

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to GFM1-SMARCA2

Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source