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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein Structure
	pLDDT scores
	Ramachandran Plot of Fusion Protein Structure
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:MTMR1-HS1BP3

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: MTMR1-HS1BP3
	FusionPDB ID: 55743
	FusionGDB2.0 ID: 55743
		Hgene	Tgene
	Gene symbol	MTMR1	HS1BP3
	Gene ID	8776	64342
	Gene name	myotubularin related protein 1	HCLS1 binding protein 3
	Synonyms	-	ETM2\|HS1-BP3
	Cytomap	Xq28	2p24.1
	Type of gene	protein-coding	protein-coding
	Description	myotubularin-related protein 1phosphatidylinositol-3,5-bisphosphate 3-phosphatasephosphatidylinositol-3-phosphate phosphatase	HCLS1-binding protein 3HS1-binding protein 3HSP1BP-3
	Modification date	20200313	20200313
	UniProtAcc	Q8NCE2	Q53T59
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000538506, ENST00000370390, ENST00000445323, ENST00000541925, ENST00000544228, ENST00000451863, ENST00000542156,	ENST00000304031, ENST00000402541, ENST00000406618,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	7 X 6 X 5=210	9 X 9 X 6=486
	# samples	7	10
	** MAII score	log2(7/210*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(10/486*10)=-2.28095631383106 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: MTMR1 [Title/Abstract] AND HS1BP3 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	MTMR1(149924337)-HS1BP3(20840940), # samples:5
Anticipated loss of major functional domain due to fusion event.	MTMR1-HS1BP3 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. MTMR1-HS1BP3 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. MTMR1-HS1BP3 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. MTMR1-HS1BP3 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. MTMR1-HS1BP3 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. MTMR1-HS1BP3 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted 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	MTMR1	GO:0046856	phosphatidylinositol dephosphorylation	11733541\|27018598
Hgene	MTMR1	GO:0060304	regulation of phosphatidylinositol dephosphorylation	16787938

Fusion gene breakpoints across MTMR1 (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 HS1BP3 (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
ChimerDB4	BRCA	TCGA-OL-A5D7-01A	MTMR1	chrX	149924337	-	HS1BP3	chr2	20840940	-
ChimerDB4	BRCA	TCGA-OL-A5D7-01A	MTMR1	chrX	149924337	+	HS1BP3	chr2	20840940	-
ChimerDB4	BRCA	TCGA-OL-A5D7	MTMR1	chrX	149924337	+	HS1BP3	chr2	20840940	-

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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)
ENST00000541925	MTMR1	chrX	149924337	+	ENST00000304031	HS1BP3	chr2	20840940	-	3965	1819	103	2799	898
ENST00000541925	MTMR1	chrX	149924337	+	ENST00000402541	HS1BP3	chr2	20840940	-	5964	1819	103	2262	719
ENST00000370390	MTMR1	chrX	149924337	+	ENST00000304031	HS1BP3	chr2	20840940	-	4136	1990	157	2970	937
ENST00000370390	MTMR1	chrX	149924337	+	ENST00000402541	HS1BP3	chr2	20840940	-	6135	1990	157	2433	758
ENST00000544228	MTMR1	chrX	149924337	+	ENST00000304031	HS1BP3	chr2	20840940	-	4100	1954	121	2934	937
ENST00000544228	MTMR1	chrX	149924337	+	ENST00000402541	HS1BP3	chr2	20840940	-	6099	1954	121	2397	758
ENST00000445323	MTMR1	chrX	149924337	+	ENST00000304031	HS1BP3	chr2	20840940	-	4124	1978	121	2958	945
ENST00000445323	MTMR1	chrX	149924337	+	ENST00000402541	HS1BP3	chr2	20840940	-	6123	1978	121	2421	766

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
ENST00000541925	ENST00000304031	MTMR1	chrX	149924337	+	HS1BP3	chr2	20840940	-	0.000810813	0.9991892
ENST00000541925	ENST00000402541	MTMR1	chrX	149924337	+	HS1BP3	chr2	20840940	-	0.000794533	0.9992055
ENST00000370390	ENST00000304031	MTMR1	chrX	149924337	+	HS1BP3	chr2	20840940	-	0.000480897	0.9995191
ENST00000370390	ENST00000402541	MTMR1	chrX	149924337	+	HS1BP3	chr2	20840940	-	0.000623548	0.9993765
ENST00000544228	ENST00000304031	MTMR1	chrX	149924337	+	HS1BP3	chr2	20840940	-	0.000495193	0.9995048
ENST00000544228	ENST00000402541	MTMR1	chrX	149924337	+	HS1BP3	chr2	20840940	-	0.000630687	0.9993693
ENST00000445323	ENST00000304031	MTMR1	chrX	149924337	+	HS1BP3	chr2	20840940	-	0.000475349	0.9995247
ENST00000445323	ENST00000402541	MTMR1	chrX	149924337	+	HS1BP3	chr2	20840940	-	0.000727853	0.99927217

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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

>55743_55743_1_MTMR1-HS1BP3_MTMR1_chrX_149924337_ENST00000370390_HS1BP3_chr2_20840940_ENST00000304031_length(amino acids)=937AA_BP=610
MDRPAAAAAAGCEGGGGPNPGPAGGRRPPRAAGGATAGSRQPSVETLDSPTGSHVEWCKQLIAATISSQISGSVTSENVSRDYKALRDGN
KLAQMEEAPLFPGESIKAIVKDVMYICPFMGAVSGTLTVTDFKLYFKNVERDPHFILDVPLGVISRVEKIGAQSHGDNSCGIEIVCKDMR
NLRLAYKQEEQSKLGIFENLNKHAFPLSNGQALFAFSYKEKFPINGWKVYDPVSEYKRQGLPNESWKISKINSNYEFCDTYPAIIVVPTS
VKDDDLSKVAAFRAKGRVPVLSWIHPESQATITRCSQPLVGPNDKRCKEDEKYLQTIMDANAQSHKLIIFDARQNSVADTNKTKGGGYES
ESAYPNAELVFLEIHNIHVMRESLRKLKEIVYPSIDEARWLSNVDGTHWLEYIRMLLAGAVRIADKIESGKTSVVVHCSDGWDRTAQLTS
LAMLMLDSYYRTIKGFETLVEKEWISFGHRFALRVGHGNDNHADADRSPIFLQFVDCVWQMTRQFPSAFEFNELFLITILDHLYSCLFGT
FLCNCEQQRFKEDVYTKTISLWSYINSQLDEFSNPFFVNYENHVLYPVASLSHLELWVNYYVRWNPRMRPQVSKKYSEIEEFYQKLSSRY
AAASLPPLPRKVLFVGESDIRERRAVFNEILRCVSKDAELAGSPELLEFLGTRSPGAAGLTSRDSSVLDGTDSQTGNDEEAFDFFEEQDQ
VAEEGPPVQSLKGEDAEESLEEEEALDPLGIMRSKKPKKHPKVAVKAKPSPRLTIFDEEVDPDEGLFGPGRKLSPQDPSEDVSSVDPLKL
FDDPDLGGAIPLGDSLLLPAACESGGPTPSLSHRDASKELFRVEEDLDQILNLGAEPKPKPQLKPKPPVAAKPVIPRKPAVPPKAGPAEA

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

>55743_55743_2_MTMR1-HS1BP3_MTMR1_chrX_149924337_ENST00000370390_HS1BP3_chr2_20840940_ENST00000402541_length(amino acids)=758AA_BP=610
MDRPAAAAAAGCEGGGGPNPGPAGGRRPPRAAGGATAGSRQPSVETLDSPTGSHVEWCKQLIAATISSQISGSVTSENVSRDYKALRDGN
KLAQMEEAPLFPGESIKAIVKDVMYICPFMGAVSGTLTVTDFKLYFKNVERDPHFILDVPLGVISRVEKIGAQSHGDNSCGIEIVCKDMR
NLRLAYKQEEQSKLGIFENLNKHAFPLSNGQALFAFSYKEKFPINGWKVYDPVSEYKRQGLPNESWKISKINSNYEFCDTYPAIIVVPTS
VKDDDLSKVAAFRAKGRVPVLSWIHPESQATITRCSQPLVGPNDKRCKEDEKYLQTIMDANAQSHKLIIFDARQNSVADTNKTKGGGYES
ESAYPNAELVFLEIHNIHVMRESLRKLKEIVYPSIDEARWLSNVDGTHWLEYIRMLLAGAVRIADKIESGKTSVVVHCSDGWDRTAQLTS
LAMLMLDSYYRTIKGFETLVEKEWISFGHRFALRVGHGNDNHADADRSPIFLQFVDCVWQMTRQFPSAFEFNELFLITILDHLYSCLFGT
FLCNCEQQRFKEDVYTKTISLWSYINSQLDEFSNPFFVNYENHVLYPVASLSHLELWVNYYVRWNPRMRPQVSKKYSEIEEFYQKLSSRY
AAASLPPLPRKVLFVGESDIRERRAVFNEILRCVSKDAELAGSPELLEFLGTRSPGAAGLTSRDSSVLDGTDSQTGNDEEAFDFFEEQDQ

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

>55743_55743_3_MTMR1-HS1BP3_MTMR1_chrX_149924337_ENST00000445323_HS1BP3_chr2_20840940_ENST00000304031_length(amino acids)=945AA_BP=618
MDRPAAAAAAGCEGGGGPNPGPAGGRRPPRAAGGATAGSRQPSVETLDSPTGSHVEWCKQLIAATISSQISGSVTSENVSRDYKVFRRPD
LRALRDGNKLAQMEEAPLFPGESIKAIVKDVMYICPFMGAVSGTLTVTDFKLYFKNVERDPHFILDVPLGVISRVEKIGAQSHGDNSCGI
EIVCKDMRNLRLAYKQEEQSKLGIFENLNKHAFPLSNGQALFAFSYKEKFPINGWKVYDPVSEYKRQGLPNESWKISKINSNYEFCDTYP
AIIVVPTSVKDDDLSKVAAFRAKGRVPVLSWIHPESQATITRCSQPLVGPNDKRCKEDEKYLQTIMDANAQSHKLIIFDARQNSVADTNK
TKGGGYESESAYPNAELVFLEIHNIHVMRESLRKLKEIVYPSIDEARWLSNVDGTHWLEYIRMLLAGAVRIADKIESGKTSVVVHCSDGW
DRTAQLTSLAMLMLDSYYRTIKGFETLVEKEWISFGHRFALRVGHGNDNHADADRSPIFLQFVDCVWQMTRQFPSAFEFNELFLITILDH
LYSCLFGTFLCNCEQQRFKEDVYTKTISLWSYINSQLDEFSNPFFVNYENHVLYPVASLSHLELWVNYYVRWNPRMRPQVSKKYSEIEEF
YQKLSSRYAAASLPPLPRKVLFVGESDIRERRAVFNEILRCVSKDAELAGSPELLEFLGTRSPGAAGLTSRDSSVLDGTDSQTGNDEEAF
DFFEEQDQVAEEGPPVQSLKGEDAEESLEEEEALDPLGIMRSKKPKKHPKVAVKAKPSPRLTIFDEEVDPDEGLFGPGRKLSPQDPSEDV
SSVDPLKLFDDPDLGGAIPLGDSLLLPAACESGGPTPSLSHRDASKELFRVEEDLDQILNLGAEPKPKPQLKPKPPVAAKPVIPRKPAVP

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

>55743_55743_4_MTMR1-HS1BP3_MTMR1_chrX_149924337_ENST00000445323_HS1BP3_chr2_20840940_ENST00000402541_length(amino acids)=766AA_BP=618
MDRPAAAAAAGCEGGGGPNPGPAGGRRPPRAAGGATAGSRQPSVETLDSPTGSHVEWCKQLIAATISSQISGSVTSENVSRDYKVFRRPD
LRALRDGNKLAQMEEAPLFPGESIKAIVKDVMYICPFMGAVSGTLTVTDFKLYFKNVERDPHFILDVPLGVISRVEKIGAQSHGDNSCGI
EIVCKDMRNLRLAYKQEEQSKLGIFENLNKHAFPLSNGQALFAFSYKEKFPINGWKVYDPVSEYKRQGLPNESWKISKINSNYEFCDTYP
AIIVVPTSVKDDDLSKVAAFRAKGRVPVLSWIHPESQATITRCSQPLVGPNDKRCKEDEKYLQTIMDANAQSHKLIIFDARQNSVADTNK
TKGGGYESESAYPNAELVFLEIHNIHVMRESLRKLKEIVYPSIDEARWLSNVDGTHWLEYIRMLLAGAVRIADKIESGKTSVVVHCSDGW
DRTAQLTSLAMLMLDSYYRTIKGFETLVEKEWISFGHRFALRVGHGNDNHADADRSPIFLQFVDCVWQMTRQFPSAFEFNELFLITILDH
LYSCLFGTFLCNCEQQRFKEDVYTKTISLWSYINSQLDEFSNPFFVNYENHVLYPVASLSHLELWVNYYVRWNPRMRPQVSKKYSEIEEF
YQKLSSRYAAASLPPLPRKVLFVGESDIRERRAVFNEILRCVSKDAELAGSPELLEFLGTRSPGAAGLTSRDSSVLDGTDSQTGNDEEAF

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

>55743_55743_5_MTMR1-HS1BP3_MTMR1_chrX_149924337_ENST00000541925_HS1BP3_chr2_20840940_ENST00000304031_length(amino acids)=898AA_BP=571
MSPTGSHVEWCKQLIAATISSQISGSVTSENVSRDYKVFRRPDLRALRDGNKLAQMEEAPLFPGESIKAIVKDVMYICPFMGAVSGTLTV
TDFKLYFKNVERDPHFILDVPLGVISRVEKIGAQSHGDNSCGIEIVCKDMRNLRLAYKQEEQSKLGIFENLNKHAFPLSNGQALFAFSYK
EKFPINGWKVYDPVSEYKRQGLPNESWKISKINSNYEFCDTYPAIIVVPTSVKDDDLSKVAAFRAKGRVPVLSWIHPESQATITRCSQPL
VGPNDKRCKEDEKYLQTIMDANAQSHKLIIFDARQNSVADTNKTKGGGYESESAYPNAELVFLEIHNIHVMRESLRKLKEIVYPSIDEAR
WLSNVDGTHWLEYIRMLLAGAVRIADKIESGKTSVVVHCSDGWDRTAQLTSLAMLMLDSYYRTIKGFETLVEKEWISFGHRFALRVGHGN
DNHADADRSPIFLQFVDCVWQMTRQFPSAFEFNELFLITILDHLYSCLFGTFLCNCEQQRFKEDVYTKTISLWSYINSQLDEFSNPFFVN
YENHVLYPVASLSHLELWVNYYVRWNPRMRPQVSKKYSEIEEFYQKLSSRYAAASLPPLPRKVLFVGESDIRERRAVFNEILRCVSKDAE
LAGSPELLEFLGTRSPGAAGLTSRDSSVLDGTDSQTGNDEEAFDFFEEQDQVAEEGPPVQSLKGEDAEESLEEEEALDPLGIMRSKKPKK
HPKVAVKAKPSPRLTIFDEEVDPDEGLFGPGRKLSPQDPSEDVSSVDPLKLFDDPDLGGAIPLGDSLLLPAACESGGPTPSLSHRDASKE

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

>55743_55743_6_MTMR1-HS1BP3_MTMR1_chrX_149924337_ENST00000541925_HS1BP3_chr2_20840940_ENST00000402541_length(amino acids)=719AA_BP=571
MSPTGSHVEWCKQLIAATISSQISGSVTSENVSRDYKVFRRPDLRALRDGNKLAQMEEAPLFPGESIKAIVKDVMYICPFMGAVSGTLTV
TDFKLYFKNVERDPHFILDVPLGVISRVEKIGAQSHGDNSCGIEIVCKDMRNLRLAYKQEEQSKLGIFENLNKHAFPLSNGQALFAFSYK
EKFPINGWKVYDPVSEYKRQGLPNESWKISKINSNYEFCDTYPAIIVVPTSVKDDDLSKVAAFRAKGRVPVLSWIHPESQATITRCSQPL
VGPNDKRCKEDEKYLQTIMDANAQSHKLIIFDARQNSVADTNKTKGGGYESESAYPNAELVFLEIHNIHVMRESLRKLKEIVYPSIDEAR
WLSNVDGTHWLEYIRMLLAGAVRIADKIESGKTSVVVHCSDGWDRTAQLTSLAMLMLDSYYRTIKGFETLVEKEWISFGHRFALRVGHGN
DNHADADRSPIFLQFVDCVWQMTRQFPSAFEFNELFLITILDHLYSCLFGTFLCNCEQQRFKEDVYTKTISLWSYINSQLDEFSNPFFVN
YENHVLYPVASLSHLELWVNYYVRWNPRMRPQVSKKYSEIEEFYQKLSSRYAAASLPPLPRKVLFVGESDIRERRAVFNEILRCVSKDAE

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

>55743_55743_7_MTMR1-HS1BP3_MTMR1_chrX_149924337_ENST00000544228_HS1BP3_chr2_20840940_ENST00000304031_length(amino acids)=937AA_BP=610
MDRPAAAAAAGCEGGGGPNPGPAGGRRPPRAAGGATAGSRQPSVETLDSPTGSHVEWCKQLIAATISSQISGSVTSENVSRDYKALRDGN
KLAQMEEAPLFPGESIKAIVKDVMYICPFMGAVSGTLTVTDFKLYFKNVERDPHFILDVPLGVISRVEKIGAQSHGDNSCGIEIVCKDMR
NLRLAYKQEEQSKLGIFENLNKHAFPLSNGQALFAFSYKEKFPINGWKVYDPVSEYKRQGLPNESWKISKINSNYEFCDTYPAIIVVPTS
VKDDDLSKVAAFRAKGRVPVLSWIHPESQATITRCSQPLVGPNDKRCKEDEKYLQTIMDANAQSHKLIIFDARQNSVADTNKTKGGGYES
ESAYPNAELVFLEIHNIHVMRESLRKLKEIVYPSIDEARWLSNVDGTHWLEYIRMLLAGAVRIADKIESGKTSVVVHCSDGWDRTAQLTS
LAMLMLDSYYRTIKGFETLVEKEWISFGHRFALRVGHGNDNHADADRSPIFLQFVDCVWQMTRQFPSAFEFNELFLITILDHLYSCLFGT
FLCNCEQQRFKEDVYTKTISLWSYINSQLDEFSNPFFVNYENHVLYPVASLSHLELWVNYYVRWNPRMRPQVSKKYSEIEEFYQKLSSRY
AAASLPPLPRKVLFVGESDIRERRAVFNEILRCVSKDAELAGSPELLEFLGTRSPGAAGLTSRDSSVLDGTDSQTGNDEEAFDFFEEQDQ
VAEEGPPVQSLKGEDAEESLEEEEALDPLGIMRSKKPKKHPKVAVKAKPSPRLTIFDEEVDPDEGLFGPGRKLSPQDPSEDVSSVDPLKL
FDDPDLGGAIPLGDSLLLPAACESGGPTPSLSHRDASKELFRVEEDLDQILNLGAEPKPKPQLKPKPPVAAKPVIPRKPAVPPKAGPAEA

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

>55743_55743_8_MTMR1-HS1BP3_MTMR1_chrX_149924337_ENST00000544228_HS1BP3_chr2_20840940_ENST00000402541_length(amino acids)=758AA_BP=610
MDRPAAAAAAGCEGGGGPNPGPAGGRRPPRAAGGATAGSRQPSVETLDSPTGSHVEWCKQLIAATISSQISGSVTSENVSRDYKALRDGN
KLAQMEEAPLFPGESIKAIVKDVMYICPFMGAVSGTLTVTDFKLYFKNVERDPHFILDVPLGVISRVEKIGAQSHGDNSCGIEIVCKDMR
NLRLAYKQEEQSKLGIFENLNKHAFPLSNGQALFAFSYKEKFPINGWKVYDPVSEYKRQGLPNESWKISKINSNYEFCDTYPAIIVVPTS
VKDDDLSKVAAFRAKGRVPVLSWIHPESQATITRCSQPLVGPNDKRCKEDEKYLQTIMDANAQSHKLIIFDARQNSVADTNKTKGGGYES
ESAYPNAELVFLEIHNIHVMRESLRKLKEIVYPSIDEARWLSNVDGTHWLEYIRMLLAGAVRIADKIESGKTSVVVHCSDGWDRTAQLTS
LAMLMLDSYYRTIKGFETLVEKEWISFGHRFALRVGHGNDNHADADRSPIFLQFVDCVWQMTRQFPSAFEFNELFLITILDHLYSCLFGT
FLCNCEQQRFKEDVYTKTISLWSYINSQLDEFSNPFFVNYENHVLYPVASLSHLELWVNYYVRWNPRMRPQVSKKYSEIEEFYQKLSSRY
AAASLPPLPRKVLFVGESDIRERRAVFNEILRCVSKDAELAGSPELLEFLGTRSPGAAGLTSRDSSVLDGTDSQTGNDEEAFDFFEEQDQ

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

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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/chrX:149924337/chr2:20840940)
- 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
MTMR1 Q8NCE2	HS1BP3 Q53T59
FUNCTION: Lipid phosphatase which efficiently dephosphorylates phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2; inactive toward PtdIns4P, PtdIns(3,4)P2, PtdIns(4,5)P2 and PtdIns(3,4,5)P3. {ECO:0000269\|PubMed:17008356}.	FUNCTION: May be a modulator of IL-2 signaling. {ECO:0000250}.

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

Hgene

MTMR1

chrX:149924337

chr2:20840940

ENST00000370390

14_17

611.0

762.3333333333334

Compositional bias

Note=Poly-Gly

Hgene

MTMR1

chrX:149924337

chr2:20840940

ENST00000370390

5_10

611.0

762.3333333333334

Compositional bias

Note=Poly-Ala

Hgene

MTMR1

chrX:149924337

chr2:20840940

ENST00000544228

14_17

611.0

666.0

Compositional bias

Note=Poly-Gly

Hgene

MTMR1

chrX:149924337

chr2:20840940

ENST00000544228

5_10

611.0

666.0

Compositional bias

Note=Poly-Ala

Hgene

MTMR1

chrX:149924337

chr2:20840940

ENST00000370390

226_601

611.0

762.3333333333334

Domain

Myotubularin phosphatase

Hgene

MTMR1

chrX:149924337

chr2:20840940

ENST00000370390

90_161

611.0

762.3333333333334

Domain

Note=GRAM

Hgene

MTMR1

chrX:149924337

chr2:20840940

ENST00000544228

226_601

611.0

666.0

Domain

Myotubularin phosphatase

Hgene

MTMR1

chrX:149924337

chr2:20840940

ENST00000544228

90_161

611.0

666.0

Domain

Note=GRAM

Hgene

MTMR1

chrX:149924337

chr2:20840940

ENST00000370390

351_354

611.0

762.3333333333334

Region

Substrate binding

Hgene

MTMR1

chrX:149924337

chr2:20840940

ENST00000370390

376_377

611.0

762.3333333333334

Region

Substrate binding

Hgene

MTMR1

chrX:149924337

chr2:20840940

ENST00000370390

438_444

611.0

762.3333333333334

Region

Substrate binding

Hgene

MTMR1

chrX:149924337

chr2:20840940

ENST00000544228

351_354

611.0

666.0

Region

Substrate binding

Hgene

MTMR1

chrX:149924337

chr2:20840940

ENST00000544228

376_377

611.0

666.0

Region

Substrate binding

Hgene

MTMR1

chrX:149924337

chr2:20840940

ENST00000544228

438_444

611.0

666.0

Region

Substrate binding

Tgene

HS1BP3

chrX:149924337

chr2:20840940

ENST00000304031

196_199

66.0

393.0

Compositional bias

Note=Poly-Glu

Tgene

HS1BP3

chrX:149924337

chr2:20840940

ENST00000304031

212_237

66.0

393.0

Compositional bias

Note=Pro-rich

Tgene

HS1BP3

chrX:149924337

chr2:20840940

ENST00000304031

324_352

66.0

393.0

Compositional bias

Note=Pro-rich

- 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

MTMR1

chrX:149924337

chr2:20840940

ENST00000370390

645_648

611.0

762.3333333333334

Compositional bias

Note=Poly-Ser

Hgene

MTMR1

chrX:149924337

chr2:20840940

ENST00000451863

14_17

569.0

Compositional bias

Note=Poly-Gly

Hgene

MTMR1

chrX:149924337

chr2:20840940

ENST00000451863

5_10

569.0

Compositional bias

Note=Poly-Ala

Hgene

MTMR1

chrX:149924337

chr2:20840940

ENST00000451863

645_648

569.0

Compositional bias

Note=Poly-Ser

Hgene

MTMR1

chrX:149924337

chr2:20840940

ENST00000544228

645_648

611.0

666.0

Compositional bias

Note=Poly-Ser

Hgene

MTMR1

chrX:149924337

chr2:20840940

ENST00000451863

226_601

569.0

Domain

Myotubularin phosphatase

Hgene

MTMR1

chrX:149924337

chr2:20840940

ENST00000451863

90_161

569.0

Domain

Note=GRAM

Hgene

MTMR1

chrX:149924337

chr2:20840940

ENST00000370390

608_665

611.0

762.3333333333334

Region

Required for dimerization

Hgene

MTMR1

chrX:149924337

chr2:20840940

ENST00000451863

351_354

569.0

Region

Substrate binding

Hgene

MTMR1

chrX:149924337

chr2:20840940

ENST00000451863

376_377

569.0

Region

Substrate binding

Hgene

MTMR1

chrX:149924337

chr2:20840940

ENST00000451863

438_444

569.0

Region

Substrate binding

Hgene

MTMR1

chrX:149924337

chr2:20840940

ENST00000451863

608_665

569.0

Region

Required for dimerization

Hgene

MTMR1

chrX:149924337

chr2:20840940

ENST00000544228

608_665

611.0

666.0

Region

Required for dimerization

Tgene

HS1BP3

chrX:149924337

chr2:20840940

ENST00000304031

19_142

66.0

393.0

Domain

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Fusion Protein Structures

PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.

Fusion protein PDB link (fusion AA seq ID in FusionPDB)	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	AA seq	Len(AA seq)
PDB file >>>1741_MTMR1_149924337_HS1BP3_20840940_ranked_0.pdb	MTMR1	149924337	149924337	ENST00000402541	HS1BP3	chr2	20840940	-	MDRPAAAAAAGCEGGGGPNPGPAGGRRPPRAAGGATAGSRQPSVETLDSPTGSHVEWCKQLIAATISSQISGSVTSENVSRDYKVFRRPD LRALRDGNKLAQMEEAPLFPGESIKAIVKDVMYICPFMGAVSGTLTVTDFKLYFKNVERDPHFILDVPLGVISRVEKIGAQSHGDNSCGI EIVCKDMRNLRLAYKQEEQSKLGIFENLNKHAFPLSNGQALFAFSYKEKFPINGWKVYDPVSEYKRQGLPNESWKISKINSNYEFCDTYP AIIVVPTSVKDDDLSKVAAFRAKGRVPVLSWIHPESQATITRCSQPLVGPNDKRCKEDEKYLQTIMDANAQSHKLIIFDARQNSVADTNK TKGGGYESESAYPNAELVFLEIHNIHVMRESLRKLKEIVYPSIDEARWLSNVDGTHWLEYIRMLLAGAVRIADKIESGKTSVVVHCSDGW DRTAQLTSLAMLMLDSYYRTIKGFETLVEKEWISFGHRFALRVGHGNDNHADADRSPIFLQFVDCVWQMTRQFPSAFEFNELFLITILDH LYSCLFGTFLCNCEQQRFKEDVYTKTISLWSYINSQLDEFSNPFFVNYENHVLYPVASLSHLELWVNYYVRWNPRMRPQVSKKYSEIEEF YQKLSSRYAAASLPPLPRKVLFVGESDIRERRAVFNEILRCVSKDAELAGSPELLEFLGTRSPGAAGLTSRDSSVLDGTDSQTGNDEEAF DFFEEQDQVAEEGPPVQSLKGEDAEESLEEEEALDPLGIMRSKKPKKHPKVAVKAKPSPRLTIFDEEVDPDEGLFGPGRKLSPQDPSEDV SSVDPLKLFDDPDLGGAIPLGDSLLLPAACESGGPTPSLSHRDASKELFRVEEDLDQILNLGAEPKPKPQLKPKPPVAAKPVIPRKPAVP	945

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pLDDT score distribution

pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

MTMR1_pLDDT.png

HS1BP3_pLDDT.png

pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

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Ramachandran Plot of Fusion Protein Structure

Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.

Fusion AA seq ID in FusionPDB and their Ramachandran plots

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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
MTMR1
HS1BP3

- 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 MTMR1-HS1BP3

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 MTMR1-HS1BP3

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