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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:SBF1-MLC1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: SBF1-MLC1
	FusionPDB ID: 79286
	FusionGDB2.0 ID: 79286
		Hgene	Tgene
	Gene symbol	SBF1	MLC1
	Gene ID	6305	23209
	Gene name	SET binding factor 1	modulator of VRAC current 1
	Synonyms	CMT4B3\|DENND7A\|MTMR5	LVM\|MLC\|VL
	Cytomap	22q13.33	22q13.33
	Type of gene	protein-coding	protein-coding
	Description	myotubularin-related protein 5DENN/MADD domain containing 7Ainactive phosphatidylinositol 3-phosphatase 5	membrane protein MLC1megalencephalic leukoencephalopathy with subcortical cysts 1
	Modification date	20200328	20200313
	UniProtAcc	.	Q15049
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000348911, ENST00000380817, ENST00000390679, ENST00000476293,	ENST00000483836, ENST00000311597, ENST00000395876, ENST00000431262, ENST00000450140, ENST00000535444, ENST00000538737,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	8 X 7 X 8=448	3 X 3 X 3=27
	# samples	10	3
	** MAII score	log2(10/448*10)=-2.16349873228288 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)	PubMed: SBF1 [Title/Abstract] AND MLC1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	SBF1(50913215)-MLC1(50506984), # samples:2
Anticipated loss of major functional domain due to fusion event.	SBF1-MLC1 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. SBF1-MLC1 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
Tgene	MLC1	GO:0032388	positive regulation of intracellular transport	19931615

Fusion gene breakpoints across SBF1 (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 MLC1 (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	PAAD	TCGA-HV-A5A6-01A	SBF1	chr22	50913215	-	MLC1	chr22	50506984	-
ChimerDB4	PAAD	TCGA-HV-A5A6	SBF1	chr22	50913215	-	MLC1	chr22	50506984	-

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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)
ENST00000380817	SBF1	chr22	50913215	-	ENST00000395876	MLC1	chr22	50506984	-	2794	239	992	1582	196
ENST00000380817	SBF1	chr22	50913215	-	ENST00000311597	MLC1	chr22	50506984	-	2794	239	992	1582	196
ENST00000380817	SBF1	chr22	50913215	-	ENST00000538737	MLC1	chr22	50506984	-	1130	239	26	601	191
ENST00000380817	SBF1	chr22	50913215	-	ENST00000431262	MLC1	chr22	50506984	-	1022	239	26	601	191
ENST00000380817	SBF1	chr22	50913215	-	ENST00000535444	MLC1	chr22	50506984	-	917	239	26	601	191
ENST00000380817	SBF1	chr22	50913215	-	ENST00000450140	MLC1	chr22	50506984	-	731	239	26	601	191
ENST00000348911	SBF1	chr22	50913215	-	ENST00000395876	MLC1	chr22	50506984	-	2712	157	910	1500	196
ENST00000348911	SBF1	chr22	50913215	-	ENST00000311597	MLC1	chr22	50506984	-	2712	157	910	1500	196
ENST00000348911	SBF1	chr22	50913215	-	ENST00000538737	MLC1	chr22	50506984	-	1048	157	28	519	163
ENST00000348911	SBF1	chr22	50913215	-	ENST00000431262	MLC1	chr22	50506984	-	940	157	28	519	163
ENST00000348911	SBF1	chr22	50913215	-	ENST00000535444	MLC1	chr22	50506984	-	835	157	28	519	163
ENST00000348911	SBF1	chr22	50913215	-	ENST00000450140	MLC1	chr22	50506984	-	649	157	28	519	163
ENST00000390679	SBF1	chr22	50913215	-	ENST00000395876	MLC1	chr22	50506984	-	2795	240	993	1583	196
ENST00000390679	SBF1	chr22	50913215	-	ENST00000311597	MLC1	chr22	50506984	-	2795	240	993	1583	196
ENST00000390679	SBF1	chr22	50913215	-	ENST00000538737	MLC1	chr22	50506984	-	1131	240	27	602	191
ENST00000390679	SBF1	chr22	50913215	-	ENST00000431262	MLC1	chr22	50506984	-	1023	240	27	602	191
ENST00000390679	SBF1	chr22	50913215	-	ENST00000535444	MLC1	chr22	50506984	-	918	240	27	602	191
ENST00000390679	SBF1	chr22	50913215	-	ENST00000450140	MLC1	chr22	50506984	-	732	240	27	602	191

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
ENST00000380817	ENST00000395876	SBF1	chr22	50913215	-	MLC1	chr22	50506984	-	0.4644129	0.53558713
ENST00000380817	ENST00000311597	SBF1	chr22	50913215	-	MLC1	chr22	50506984	-	0.4644129	0.53558713
ENST00000380817	ENST00000538737	SBF1	chr22	50913215	-	MLC1	chr22	50506984	-	0.51174486	0.48825514
ENST00000380817	ENST00000431262	SBF1	chr22	50913215	-	MLC1	chr22	50506984	-	0.45746347	0.54253656
ENST00000380817	ENST00000535444	SBF1	chr22	50913215	-	MLC1	chr22	50506984	-	0.3353436	0.66465634
ENST00000380817	ENST00000450140	SBF1	chr22	50913215	-	MLC1	chr22	50506984	-	0.36397657	0.63602346
ENST00000348911	ENST00000395876	SBF1	chr22	50913215	-	MLC1	chr22	50506984	-	0.44345537	0.5565446
ENST00000348911	ENST00000311597	SBF1	chr22	50913215	-	MLC1	chr22	50506984	-	0.44345537	0.5565446
ENST00000348911	ENST00000538737	SBF1	chr22	50913215	-	MLC1	chr22	50506984	-	0.6284268	0.37157318
ENST00000348911	ENST00000431262	SBF1	chr22	50913215	-	MLC1	chr22	50506984	-	0.61421174	0.3857882
ENST00000348911	ENST00000535444	SBF1	chr22	50913215	-	MLC1	chr22	50506984	-	0.45483288	0.54516715
ENST00000348911	ENST00000450140	SBF1	chr22	50913215	-	MLC1	chr22	50506984	-	0.52496886	0.4750311
ENST00000390679	ENST00000395876	SBF1	chr22	50913215	-	MLC1	chr22	50506984	-	0.45221823	0.54778177
ENST00000390679	ENST00000311597	SBF1	chr22	50913215	-	MLC1	chr22	50506984	-	0.45221823	0.54778177
ENST00000390679	ENST00000538737	SBF1	chr22	50913215	-	MLC1	chr22	50506984	-	0.49607846	0.50392157
ENST00000390679	ENST00000431262	SBF1	chr22	50913215	-	MLC1	chr22	50506984	-	0.43872035	0.5612797
ENST00000390679	ENST00000535444	SBF1	chr22	50913215	-	MLC1	chr22	50506984	-	0.3159259	0.6840741
ENST00000390679	ENST00000450140	SBF1	chr22	50913215	-	MLC1	chr22	50506984	-	0.35642582	0.6435741

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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

>79286_79286_1_SBF1-MLC1_SBF1_chr22_50913215_ENST00000348911_MLC1_chr22_50506984_ENST00000311597_length(amino acids)=196AA_BP=118
MRLLPTLTGLPPSTLRVCPGYSVSPVGSYPLPCKVHLPQAQAAQRLFLDSESRAGRLCPGPGAAGAPPPEPGRKRHRLPLLSQVKSTPVH
AGSPALSPYLDPVILEGSTATLAGPRPGCCHAQLGVPRGRCPRPGHCHAQLGVPHGRCPRPGHCHAQLGVPRGRCCDRQCSWGWGCIQGF

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

>79286_79286_2_SBF1-MLC1_SBF1_chr22_50913215_ENST00000348911_MLC1_chr22_50506984_ENST00000395876_length(amino acids)=196AA_BP=118
MRLLPTLTGLPPSTLRVCPGYSVSPVGSYPLPCKVHLPQAQAAQRLFLDSESRAGRLCPGPGAAGAPPPEPGRKRHRLPLLSQVKSTPVH
AGSPALSPYLDPVILEGSTATLAGPRPGCCHAQLGVPRGRCPRPGHCHAQLGVPHGRCPRPGHCHAQLGVPRGRCCDRQCSWGWGCIQGF

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

>79286_79286_3_SBF1-MLC1_SBF1_chr22_50913215_ENST00000348911_MLC1_chr22_50506984_ENST00000431262_length(amino acids)=163AA_BP=0
MSAPSSSPRAAEPARAPRAAPRPSPWRGSRTTSCWWRSGRTRAVEVLIAISSLTSPLLFTASGYLSFSIMRIVEMFKDYPPAIKPSYDVL

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

>79286_79286_4_SBF1-MLC1_SBF1_chr22_50913215_ENST00000348911_MLC1_chr22_50506984_ENST00000450140_length(amino acids)=163AA_BP=0
MSAPSSSPRAAEPARAPRAAPRPSPWRGSRTTSCWWRSGRTRAVEVLIAISSLTSPLLFTASGYLSFSIMRIVEMFKDYPPAIKPSYDVL

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

>79286_79286_5_SBF1-MLC1_SBF1_chr22_50913215_ENST00000348911_MLC1_chr22_50506984_ENST00000535444_length(amino acids)=163AA_BP=0
MSAPSSSPRAAEPARAPRAAPRPSPWRGSRTTSCWWRSGRTRAVEVLIAISSLTSPLLFTASGYLSFSIMRIVEMFKDYPPAIKPSYDVL

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

>79286_79286_6_SBF1-MLC1_SBF1_chr22_50913215_ENST00000348911_MLC1_chr22_50506984_ENST00000538737_length(amino acids)=163AA_BP=0
MSAPSSSPRAAEPARAPRAAPRPSPWRGSRTTSCWWRSGRTRAVEVLIAISSLTSPLLFTASGYLSFSIMRIVEMFKDYPPAIKPSYDVL

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

>79286_79286_7_SBF1-MLC1_SBF1_chr22_50913215_ENST00000380817_MLC1_chr22_50506984_ENST00000311597_length(amino acids)=196AA_BP=118
MRLLPTLTGLPPSTLRVCPGYSVSPVGSYPLPCKVHLPQAQAAQRLFLDSESRAGRLCPGPGAAGAPPPEPGRKRHRLPLLSQVKSTPVH
AGSPALSPYLDPVILEGSTATLAGPRPGCCHAQLGVPRGRCPRPGHCHAQLGVPHGRCPRPGHCHAQLGVPRGRCCDRQCSWGWGCIQGF

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

>79286_79286_8_SBF1-MLC1_SBF1_chr22_50913215_ENST00000380817_MLC1_chr22_50506984_ENST00000395876_length(amino acids)=196AA_BP=118
MRLLPTLTGLPPSTLRVCPGYSVSPVGSYPLPCKVHLPQAQAAQRLFLDSESRAGRLCPGPGAAGAPPPEPGRKRHRLPLLSQVKSTPVH
AGSPALSPYLDPVILEGSTATLAGPRPGCCHAQLGVPRGRCPRPGHCHAQLGVPHGRCPRPGHCHAQLGVPRGRCCDRQCSWGWGCIQGF

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

>79286_79286_9_SBF1-MLC1_SBF1_chr22_50913215_ENST00000380817_MLC1_chr22_50506984_ENST00000431262_length(amino acids)=191AA_BP=1
MGRRRRRRRRRGANQGCPGCAVQGRGRAMSAPSSSPRAAEPARAPRAAPRPSPWRGSRTTSCWWRSGRTRAVEVLIAISSLTSPLLFTAS
GYLSFSIMRIVEMFKDYPPAIKPSYDVLLLLLLLVLLLQAGLNTGTAIQCVRFKVSARLQGASWDTQNGPQERLAGEVARSPLKEFDKEK

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

>79286_79286_10_SBF1-MLC1_SBF1_chr22_50913215_ENST00000380817_MLC1_chr22_50506984_ENST00000450140_length(amino acids)=191AA_BP=1
MGRRRRRRRRRGANQGCPGCAVQGRGRAMSAPSSSPRAAEPARAPRAAPRPSPWRGSRTTSCWWRSGRTRAVEVLIAISSLTSPLLFTAS
GYLSFSIMRIVEMFKDYPPAIKPSYDVLLLLLLLVLLLQAGLNTGTAIQCVRFKVSARLQGASWDTQNGPQERLAGEVARSPLKEFDKEK

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

>79286_79286_11_SBF1-MLC1_SBF1_chr22_50913215_ENST00000380817_MLC1_chr22_50506984_ENST00000535444_length(amino acids)=191AA_BP=1
MGRRRRRRRRRGANQGCPGCAVQGRGRAMSAPSSSPRAAEPARAPRAAPRPSPWRGSRTTSCWWRSGRTRAVEVLIAISSLTSPLLFTAS
GYLSFSIMRIVEMFKDYPPAIKPSYDVLLLLLLLVLLLQAGLNTGTAIQCVRFKVSARLQGASWDTQNGPQERLAGEVARSPLKEFDKEK

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

>79286_79286_12_SBF1-MLC1_SBF1_chr22_50913215_ENST00000380817_MLC1_chr22_50506984_ENST00000538737_length(amino acids)=191AA_BP=1
MGRRRRRRRRRGANQGCPGCAVQGRGRAMSAPSSSPRAAEPARAPRAAPRPSPWRGSRTTSCWWRSGRTRAVEVLIAISSLTSPLLFTAS
GYLSFSIMRIVEMFKDYPPAIKPSYDVLLLLLLLVLLLQAGLNTGTAIQCVRFKVSARLQGASWDTQNGPQERLAGEVARSPLKEFDKEK

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

>79286_79286_13_SBF1-MLC1_SBF1_chr22_50913215_ENST00000390679_MLC1_chr22_50506984_ENST00000311597_length(amino acids)=196AA_BP=118
MRLLPTLTGLPPSTLRVCPGYSVSPVGSYPLPCKVHLPQAQAAQRLFLDSESRAGRLCPGPGAAGAPPPEPGRKRHRLPLLSQVKSTPVH
AGSPALSPYLDPVILEGSTATLAGPRPGCCHAQLGVPRGRCPRPGHCHAQLGVPHGRCPRPGHCHAQLGVPRGRCCDRQCSWGWGCIQGF

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

>79286_79286_14_SBF1-MLC1_SBF1_chr22_50913215_ENST00000390679_MLC1_chr22_50506984_ENST00000395876_length(amino acids)=196AA_BP=118
MRLLPTLTGLPPSTLRVCPGYSVSPVGSYPLPCKVHLPQAQAAQRLFLDSESRAGRLCPGPGAAGAPPPEPGRKRHRLPLLSQVKSTPVH
AGSPALSPYLDPVILEGSTATLAGPRPGCCHAQLGVPRGRCPRPGHCHAQLGVPHGRCPRPGHCHAQLGVPRGRCCDRQCSWGWGCIQGF

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

>79286_79286_15_SBF1-MLC1_SBF1_chr22_50913215_ENST00000390679_MLC1_chr22_50506984_ENST00000431262_length(amino acids)=191AA_BP=1
MGRRRRRRRRRGANQGCPGCAVQGRGRAMSAPSSSPRAAEPARAPRAAPRPSPWRGSRTTSCWWRSGRTRAVEVLIAISSLTSPLLFTAS
GYLSFSIMRIVEMFKDYPPAIKPSYDVLLLLLLLVLLLQAGLNTGTAIQCVRFKVSARLQGASWDTQNGPQERLAGEVARSPLKEFDKEK

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

>79286_79286_16_SBF1-MLC1_SBF1_chr22_50913215_ENST00000390679_MLC1_chr22_50506984_ENST00000450140_length(amino acids)=191AA_BP=1
MGRRRRRRRRRGANQGCPGCAVQGRGRAMSAPSSSPRAAEPARAPRAAPRPSPWRGSRTTSCWWRSGRTRAVEVLIAISSLTSPLLFTAS
GYLSFSIMRIVEMFKDYPPAIKPSYDVLLLLLLLVLLLQAGLNTGTAIQCVRFKVSARLQGASWDTQNGPQERLAGEVARSPLKEFDKEK

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

>79286_79286_17_SBF1-MLC1_SBF1_chr22_50913215_ENST00000390679_MLC1_chr22_50506984_ENST00000535444_length(amino acids)=191AA_BP=1
MGRRRRRRRRRGANQGCPGCAVQGRGRAMSAPSSSPRAAEPARAPRAAPRPSPWRGSRTTSCWWRSGRTRAVEVLIAISSLTSPLLFTAS
GYLSFSIMRIVEMFKDYPPAIKPSYDVLLLLLLLVLLLQAGLNTGTAIQCVRFKVSARLQGASWDTQNGPQERLAGEVARSPLKEFDKEK

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

>79286_79286_18_SBF1-MLC1_SBF1_chr22_50913215_ENST00000390679_MLC1_chr22_50506984_ENST00000538737_length(amino acids)=191AA_BP=1
MGRRRRRRRRRGANQGCPGCAVQGRGRAMSAPSSSPRAAEPARAPRAAPRPSPWRGSRTTSCWWRSGRTRAVEVLIAISSLTSPLLFTAS
GYLSFSIMRIVEMFKDYPPAIKPSYDVLLLLLLLVLLLQAGLNTGTAIQCVRFKVSARLQGASWDTQNGPQERLAGEVARSPLKEFDKEK

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

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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/chr22:50913215/chr22:50506984)
- 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
.	MLC1 Q15049
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.	FUNCTION: Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx. {ECO:0000269\|PubMed:22328087}.

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

MLC1

chr22:50913215

chr22:50506984

ENST00000311597

257_277

257.0

378.0

Transmembrane

Helical

Tgene

MLC1

chr22:50913215

chr22:50506984

ENST00000311597

304_324

257.0

378.0

Transmembrane

Helical

Tgene

MLC1

chr22:50913215

chr22:50506984

ENST00000395876

257_277

257.0

378.0

Transmembrane

Helical

Tgene

MLC1

chr22:50913215

chr22:50506984

ENST00000395876

304_324

257.0

378.0

Transmembrane

Helical

- 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

SBF1

chr22:50913215

chr22:50506984

ENST00000380817

1121_1597

18.333333333333332

1894.0

Domain

Myotubularin phosphatase

Hgene

SBF1

chr22:50913215

chr22:50506984

ENST00000380817

1762_1866

18.333333333333332

1894.0

Domain

Hgene

SBF1

chr22:50913215

chr22:50506984

ENST00000380817

204_337

18.333333333333332

1894.0

Domain

cDENN

Hgene

SBF1

chr22:50913215

chr22:50506984

ENST00000380817

339_440

18.333333333333332

1894.0

Domain

dDENN

Hgene

SBF1

chr22:50913215

chr22:50506984

ENST00000380817

7_185

18.333333333333332

1894.0

Domain

uDENN

Hgene

SBF1

chr22:50913215

chr22:50506984

ENST00000380817

881_969

18.333333333333332

1894.0

Domain

GRAM

Hgene

SBF1

chr22:50913215

chr22:50506984

ENST00000390679

1121_1597

18.333333333333332

1868.0

Domain

Myotubularin phosphatase

Hgene

SBF1

chr22:50913215

chr22:50506984

ENST00000390679

1762_1866

18.333333333333332

1868.0

Domain

Hgene

SBF1

chr22:50913215

chr22:50506984

ENST00000390679

204_337

18.333333333333332

1868.0

Domain

cDENN

Hgene

SBF1

chr22:50913215

chr22:50506984

ENST00000390679

339_440

18.333333333333332

1868.0

Domain

dDENN

Hgene

SBF1

chr22:50913215

chr22:50506984

ENST00000390679

7_185

18.333333333333332

1868.0

Domain

uDENN

Hgene

SBF1

chr22:50913215

chr22:50506984

ENST00000390679

881_969

18.333333333333332

1868.0

Domain

GRAM

Tgene

MLC1

chr22:50913215

chr22:50506984

ENST00000311597

173_176

257.0

378.0

Compositional bias

Note=Poly-Lys

Tgene

MLC1

chr22:50913215

chr22:50506984

ENST00000395876

173_176

257.0

378.0

Compositional bias

Note=Poly-Lys

Tgene

MLC1

chr22:50913215

chr22:50506984

ENST00000311597

111_131

257.0

378.0

Transmembrane

Helical

Tgene

MLC1

chr22:50913215

chr22:50506984

ENST00000311597

144_164

257.0

378.0

Transmembrane

Helical

Tgene

MLC1

chr22:50913215

chr22:50506984

ENST00000311597

199_219

257.0

378.0

Transmembrane

Helical

Tgene

MLC1

chr22:50913215

chr22:50506984

ENST00000311597

230_250

257.0

378.0

Transmembrane

Helical

Tgene

MLC1

chr22:50913215

chr22:50506984

ENST00000311597

52_72

257.0

378.0

Transmembrane

Helical

Tgene

MLC1

chr22:50913215

chr22:50506984

ENST00000311597

82_100

257.0

378.0

Transmembrane

Helical

Tgene

MLC1

chr22:50913215

chr22:50506984

ENST00000395876

111_131

257.0

378.0

Transmembrane

Helical

Tgene

MLC1

chr22:50913215

chr22:50506984

ENST00000395876

144_164

257.0

378.0

Transmembrane

Helical

Tgene

MLC1

chr22:50913215

chr22:50506984

ENST00000395876

199_219

257.0

378.0

Transmembrane

Helical

Tgene

MLC1

chr22:50913215

chr22:50506984

ENST00000395876

230_250

257.0

378.0

Transmembrane

Helical

Tgene

MLC1

chr22:50913215

chr22:50506984

ENST00000395876

52_72

257.0

378.0

Transmembrane

Helical

Tgene

MLC1

chr22:50913215

chr22:50506984

ENST00000395876

82_100

257.0

378.0

Transmembrane

Helical

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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 >>>256_SBF1_50913215_MLC1_50506984_ranked_0.pdb	SBF1	50913215	50913215	ENST00000450140	MLC1	chr22	50506984	-	MRLLPTLTGLPPSTLRVCPGYSVSPVGSYPLPCKVHLPQAQAAQRLFLDSESRAGRLCPGPGAAGAPPPEPGRKRHRLPLLSQVKSTPVH AGSPALSPYLDPVILEGSTATLAGPRPGCCHAQLGVPRGRCPRPGHCHAQLGVPHGRCPRPGHCHAQLGVPRGRCCDRQCSWGWGCIQGF	196

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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.

SBF1_pLDDT.png

MLC1_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
SBF1
MLC1

- 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 SBF1-MLC1

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

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to SBF1-MLC1

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