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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:MAGEA4-SMPD1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: MAGEA4-SMPD1
	FusionPDB ID: 50744
	FusionGDB2.0 ID: 50744
		Hgene	Tgene
	Gene symbol	MAGEA4	SMPD1
	Gene ID	4104	6609
	Gene name	MAGE family member A5	sphingomyelin phosphodiesterase 1
	Synonyms	CT1.5\|MAGE5\|MAGEA4	ASM\|ASMASE\|NPD
	Cytomap	Xq28	11p15.4
	Type of gene	protein-coding	protein-coding
	Description	melanoma-associated antigen 5MAGE-5 antigenMAGE-5a antigenMAGE-5b antigencancer/testis antigen 1.5cancer/testis antigen family 1, member 5melanoma antigen family A, 5melanoma antigen family A5	sphingomyelin phosphodiesteraseacid sphingomyelinasesphingomyelin phosphodiesterase 1, acid lysosomal
	Modification date	20200313	20200313
	UniProtAcc	P43358	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000276344, ENST00000360243, ENST00000370335, ENST00000370337, ENST00000370340, ENST00000393920, ENST00000393921,	ENST00000527275, ENST00000533196, ENST00000299397, ENST00000342245, ENST00000356761,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	1 X 1 X 1=1	5 X 5 X 2=50
	# samples	1	5
	** MAII score	log2(1/1*10)=3.32192809488736	log2(5/50*10)=0
Context (manual curation of fusion genes in FusionPDB)	PubMed: MAGEA4 [Title/Abstract] AND SMPD1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	MAGEA4(151092837)-SMPD1(6413115), # samples:2
Anticipated loss of major functional domain due to fusion event.	MAGEA4-SMPD1 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. MAGEA4-SMPD1 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. MAGEA4-SMPD1 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. MAGEA4-SMPD1 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	SMPD1	GO:0006685	sphingomyelin catabolic process	18815062
Tgene	SMPD1	GO:0046513	ceramide biosynthetic process	18815062

Fusion gene breakpoints across MAGEA4 (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 SMPD1 (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	AA378043	MAGEA4	chrX	151092837	+	SMPD1	chr11	6413115	+
ChiTaRS5.0	N/A	AW951504	MAGEA4	chrX	151092837	+	SMPD1	chr11	6413115	+

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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)
ENST00000276344	MAGEA4	chrX	151092837	+	ENST00000356761	SMPD1	chr11	6413115	+	2254	958	2066	954	370
ENST00000276344	MAGEA4	chrX	151092837	+	ENST00000299397	SMPD1	chr11	6413115	+	2290	958	951	1901	316
ENST00000276344	MAGEA4	chrX	151092837	+	ENST00000342245	SMPD1	chr11	6413115	+	2422	958	2234	954	426
ENST00000393921	MAGEA4	chrX	151092837	+	ENST00000356761	SMPD1	chr11	6413115	+	2257	961	2069	957	370
ENST00000393921	MAGEA4	chrX	151092837	+	ENST00000299397	SMPD1	chr11	6413115	+	2293	961	954	1904	316
ENST00000393921	MAGEA4	chrX	151092837	+	ENST00000342245	SMPD1	chr11	6413115	+	2425	961	2237	957	426
ENST00000370337	MAGEA4	chrX	151092837	+	ENST00000356761	SMPD1	chr11	6413115	+	2257	961	2069	957	370
ENST00000370337	MAGEA4	chrX	151092837	+	ENST00000299397	SMPD1	chr11	6413115	+	2293	961	954	1904	316
ENST00000370337	MAGEA4	chrX	151092837	+	ENST00000342245	SMPD1	chr11	6413115	+	2425	961	2237	957	426
ENST00000393920	MAGEA4	chrX	151092837	+	ENST00000356761	SMPD1	chr11	6413115	+	2251	955	2063	951	370
ENST00000393920	MAGEA4	chrX	151092837	+	ENST00000299397	SMPD1	chr11	6413115	+	2287	955	948	1898	316
ENST00000393920	MAGEA4	chrX	151092837	+	ENST00000342245	SMPD1	chr11	6413115	+	2419	955	2231	951	426
ENST00000370340	MAGEA4	chrX	151092837	+	ENST00000356761	SMPD1	chr11	6413115	+	2303	1007	2115	1003	370
ENST00000370340	MAGEA4	chrX	151092837	+	ENST00000299397	SMPD1	chr11	6413115	+	2339	1007	1000	1950	316
ENST00000370340	MAGEA4	chrX	151092837	+	ENST00000342245	SMPD1	chr11	6413115	+	2471	1007	2283	1003	426
ENST00000370335	MAGEA4	chrX	151092837	+	ENST00000356761	SMPD1	chr11	6413115	+	2303	1007	2115	1003	370
ENST00000370335	MAGEA4	chrX	151092837	+	ENST00000299397	SMPD1	chr11	6413115	+	2339	1007	1000	1950	316
ENST00000370335	MAGEA4	chrX	151092837	+	ENST00000342245	SMPD1	chr11	6413115	+	2471	1007	2283	1003	426
ENST00000360243	MAGEA4	chrX	151092837	+	ENST00000356761	SMPD1	chr11	6413115	+	2303	1007	2115	1003	370
ENST00000360243	MAGEA4	chrX	151092837	+	ENST00000299397	SMPD1	chr11	6413115	+	2339	1007	1000	1950	316
ENST00000360243	MAGEA4	chrX	151092837	+	ENST00000342245	SMPD1	chr11	6413115	+	2471	1007	2283	1003	426

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
ENST00000276344	ENST00000356761	MAGEA4	chrX	151092837	+	SMPD1	chr11	6413115	+	0.10870709	0.89129287
ENST00000276344	ENST00000299397	MAGEA4	chrX	151092837	+	SMPD1	chr11	6413115	+	0.059996203	0.9400038
ENST00000276344	ENST00000342245	MAGEA4	chrX	151092837	+	SMPD1	chr11	6413115	+	0.035840962	0.9641591
ENST00000393921	ENST00000356761	MAGEA4	chrX	151092837	+	SMPD1	chr11	6413115	+	0.105039164	0.8949609
ENST00000393921	ENST00000299397	MAGEA4	chrX	151092837	+	SMPD1	chr11	6413115	+	0.05494631	0.94505364
ENST00000393921	ENST00000342245	MAGEA4	chrX	151092837	+	SMPD1	chr11	6413115	+	0.03254706	0.9674529
ENST00000370337	ENST00000356761	MAGEA4	chrX	151092837	+	SMPD1	chr11	6413115	+	0.105039164	0.8949609
ENST00000370337	ENST00000299397	MAGEA4	chrX	151092837	+	SMPD1	chr11	6413115	+	0.05494631	0.94505364
ENST00000370337	ENST00000342245	MAGEA4	chrX	151092837	+	SMPD1	chr11	6413115	+	0.03254706	0.9674529
ENST00000393920	ENST00000356761	MAGEA4	chrX	151092837	+	SMPD1	chr11	6413115	+	0.10276157	0.89723843
ENST00000393920	ENST00000299397	MAGEA4	chrX	151092837	+	SMPD1	chr11	6413115	+	0.056871507	0.94312847
ENST00000393920	ENST00000342245	MAGEA4	chrX	151092837	+	SMPD1	chr11	6413115	+	0.03239407	0.9676059
ENST00000370340	ENST00000356761	MAGEA4	chrX	151092837	+	SMPD1	chr11	6413115	+	0.086658634	0.9133414
ENST00000370340	ENST00000299397	MAGEA4	chrX	151092837	+	SMPD1	chr11	6413115	+	0.0459897	0.9540103
ENST00000370340	ENST00000342245	MAGEA4	chrX	151092837	+	SMPD1	chr11	6413115	+	0.028660899	0.9713391
ENST00000370335	ENST00000356761	MAGEA4	chrX	151092837	+	SMPD1	chr11	6413115	+	0.086658634	0.9133414
ENST00000370335	ENST00000299397	MAGEA4	chrX	151092837	+	SMPD1	chr11	6413115	+	0.0459897	0.9540103
ENST00000370335	ENST00000342245	MAGEA4	chrX	151092837	+	SMPD1	chr11	6413115	+	0.028660899	0.9713391
ENST00000360243	ENST00000356761	MAGEA4	chrX	151092837	+	SMPD1	chr11	6413115	+	0.086658634	0.9133414
ENST00000360243	ENST00000299397	MAGEA4	chrX	151092837	+	SMPD1	chr11	6413115	+	0.0459897	0.9540103
ENST00000360243	ENST00000342245	MAGEA4	chrX	151092837	+	SMPD1	chr11	6413115	+	0.028660899	0.9713391

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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

>50744_50744_1_MAGEA4-SMPD1_MAGEA4_chrX_151092837_ENST00000276344_SMPD1_chr11_6413115_ENST00000299397_length(amino acids)=316AA_BP=2
MLMVYWTGDIPAHDVWHQTRQDQLRALTTVTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKAWEPWLPAEALR
TLRYLSSVETQEGKRKVHIIGHIPPGHCLKSWSWNYYRIVARYENTLAAQFFGHTHVDEFEVFYDEETLSRPLAVAFLAPSATTYIGLNP
GYRVYQIDGNYSGSSHVVLDHETYILNLTQANIPGAIPHWQLLYRARETYGLPNTLPTAWHNLVYRMRGDMQLFQTFWFLYHKGHPPSEP

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

>50744_50744_2_MAGEA4-SMPD1_MAGEA4_chrX_151092837_ENST00000276344_SMPD1_chr11_6413115_ENST00000342245_length(amino acids)=426AA_BP=1
MGTGSQTPSHIQLNQLQERRRSCFPGILGAQGLVLSPDDLAWLNHSSIWAFSPFPTSRTFPNVGPGALAKQWPWPQALGLWEAPIWHQVA
AQSRAVSTGRELGTKSSQTAGRATGLRGWVALMVEKPEGLEKLHVAPHAIYQVVPGGRQCVGQPIGFSSPVEKLPVRYGSRYVCLGQIQD
VGLMVQDHVRAPGVVSIYLVHTVTRIKADVGSCTGCQEGYSQRPAQSLFIIEDLKFIHMSVAKELSSQGVLIPGYNSVIIPAPALQTVPW
GNVANYMHFVSSILSSLKLPHQPLELSCGIRGVDQEPEVLTGTKIHIERDEAETGVWGKSIEPPNSEGAQGFGRQPGLPSLGHRFIEPAG

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

>50744_50744_3_MAGEA4-SMPD1_MAGEA4_chrX_151092837_ENST00000276344_SMPD1_chr11_6413115_ENST00000356761_length(amino acids)=370AA_BP=1
MGTGSQTPSHIQLNQLQERRRSCFPGILGAQGLVLSPDDLAWLNHSSIWAFSPFPTSRTFPNVGPGALAKQWPWPQALGLWEAPIWHQVA
AQSRAVSTGRELGTKSSQTAGRATGLRGWVALMVEKPEGLEKLHVAPHAIYQVVPGGRQCVGQPIGFSSPVEKLPVRYGSRYVCLGQIQD
VGLMVQDHVRAPGVVSIYLVHTVTRIKADVGSCTGCQEGYSQRPAQSLFIIEDLKFIHMSVAKELSSQGVLIPGYNSVIIPAPALQTVPW
GNVANYMHLSEGAQGFGRQPGLPSLGHRFIEPAGGVVALNEGGREAIDRCAFMVTHSRVHWHWPQELPHKCCDGGQGPQLVLTSLVPDIM

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

>50744_50744_4_MAGEA4-SMPD1_MAGEA4_chrX_151092837_ENST00000360243_SMPD1_chr11_6413115_ENST00000299397_length(amino acids)=316AA_BP=2
MLMVYWTGDIPAHDVWHQTRQDQLRALTTVTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKAWEPWLPAEALR
TLRYLSSVETQEGKRKVHIIGHIPPGHCLKSWSWNYYRIVARYENTLAAQFFGHTHVDEFEVFYDEETLSRPLAVAFLAPSATTYIGLNP
GYRVYQIDGNYSGSSHVVLDHETYILNLTQANIPGAIPHWQLLYRARETYGLPNTLPTAWHNLVYRMRGDMQLFQTFWFLYHKGHPPSEP

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

>50744_50744_5_MAGEA4-SMPD1_MAGEA4_chrX_151092837_ENST00000360243_SMPD1_chr11_6413115_ENST00000342245_length(amino acids)=426AA_BP=1
MGTGSQTPSHIQLNQLQERRRSCFPGILGAQGLVLSPDDLAWLNHSSIWAFSPFPTSRTFPNVGPGALAKQWPWPQALGLWEAPIWHQVA
AQSRAVSTGRELGTKSSQTAGRATGLRGWVALMVEKPEGLEKLHVAPHAIYQVVPGGRQCVGQPIGFSSPVEKLPVRYGSRYVCLGQIQD
VGLMVQDHVRAPGVVSIYLVHTVTRIKADVGSCTGCQEGYSQRPAQSLFIIEDLKFIHMSVAKELSSQGVLIPGYNSVIIPAPALQTVPW
GNVANYMHFVSSILSSLKLPHQPLELSCGIRGVDQEPEVLTGTKIHIERDEAETGVWGKSIEPPNSEGAQGFGRQPGLPSLGHRFIEPAG

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

>50744_50744_6_MAGEA4-SMPD1_MAGEA4_chrX_151092837_ENST00000360243_SMPD1_chr11_6413115_ENST00000356761_length(amino acids)=370AA_BP=1
MGTGSQTPSHIQLNQLQERRRSCFPGILGAQGLVLSPDDLAWLNHSSIWAFSPFPTSRTFPNVGPGALAKQWPWPQALGLWEAPIWHQVA
AQSRAVSTGRELGTKSSQTAGRATGLRGWVALMVEKPEGLEKLHVAPHAIYQVVPGGRQCVGQPIGFSSPVEKLPVRYGSRYVCLGQIQD
VGLMVQDHVRAPGVVSIYLVHTVTRIKADVGSCTGCQEGYSQRPAQSLFIIEDLKFIHMSVAKELSSQGVLIPGYNSVIIPAPALQTVPW
GNVANYMHLSEGAQGFGRQPGLPSLGHRFIEPAGGVVALNEGGREAIDRCAFMVTHSRVHWHWPQELPHKCCDGGQGPQLVLTSLVPDIM

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

>50744_50744_7_MAGEA4-SMPD1_MAGEA4_chrX_151092837_ENST00000370335_SMPD1_chr11_6413115_ENST00000299397_length(amino acids)=316AA_BP=2
MLMVYWTGDIPAHDVWHQTRQDQLRALTTVTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKAWEPWLPAEALR
TLRYLSSVETQEGKRKVHIIGHIPPGHCLKSWSWNYYRIVARYENTLAAQFFGHTHVDEFEVFYDEETLSRPLAVAFLAPSATTYIGLNP
GYRVYQIDGNYSGSSHVVLDHETYILNLTQANIPGAIPHWQLLYRARETYGLPNTLPTAWHNLVYRMRGDMQLFQTFWFLYHKGHPPSEP

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

>50744_50744_8_MAGEA4-SMPD1_MAGEA4_chrX_151092837_ENST00000370335_SMPD1_chr11_6413115_ENST00000342245_length(amino acids)=426AA_BP=1
MGTGSQTPSHIQLNQLQERRRSCFPGILGAQGLVLSPDDLAWLNHSSIWAFSPFPTSRTFPNVGPGALAKQWPWPQALGLWEAPIWHQVA
AQSRAVSTGRELGTKSSQTAGRATGLRGWVALMVEKPEGLEKLHVAPHAIYQVVPGGRQCVGQPIGFSSPVEKLPVRYGSRYVCLGQIQD
VGLMVQDHVRAPGVVSIYLVHTVTRIKADVGSCTGCQEGYSQRPAQSLFIIEDLKFIHMSVAKELSSQGVLIPGYNSVIIPAPALQTVPW
GNVANYMHFVSSILSSLKLPHQPLELSCGIRGVDQEPEVLTGTKIHIERDEAETGVWGKSIEPPNSEGAQGFGRQPGLPSLGHRFIEPAG

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

>50744_50744_9_MAGEA4-SMPD1_MAGEA4_chrX_151092837_ENST00000370335_SMPD1_chr11_6413115_ENST00000356761_length(amino acids)=370AA_BP=1
MGTGSQTPSHIQLNQLQERRRSCFPGILGAQGLVLSPDDLAWLNHSSIWAFSPFPTSRTFPNVGPGALAKQWPWPQALGLWEAPIWHQVA
AQSRAVSTGRELGTKSSQTAGRATGLRGWVALMVEKPEGLEKLHVAPHAIYQVVPGGRQCVGQPIGFSSPVEKLPVRYGSRYVCLGQIQD
VGLMVQDHVRAPGVVSIYLVHTVTRIKADVGSCTGCQEGYSQRPAQSLFIIEDLKFIHMSVAKELSSQGVLIPGYNSVIIPAPALQTVPW
GNVANYMHLSEGAQGFGRQPGLPSLGHRFIEPAGGVVALNEGGREAIDRCAFMVTHSRVHWHWPQELPHKCCDGGQGPQLVLTSLVPDIM

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

>50744_50744_10_MAGEA4-SMPD1_MAGEA4_chrX_151092837_ENST00000370337_SMPD1_chr11_6413115_ENST00000299397_length(amino acids)=316AA_BP=2
MLMVYWTGDIPAHDVWHQTRQDQLRALTTVTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKAWEPWLPAEALR
TLRYLSSVETQEGKRKVHIIGHIPPGHCLKSWSWNYYRIVARYENTLAAQFFGHTHVDEFEVFYDEETLSRPLAVAFLAPSATTYIGLNP
GYRVYQIDGNYSGSSHVVLDHETYILNLTQANIPGAIPHWQLLYRARETYGLPNTLPTAWHNLVYRMRGDMQLFQTFWFLYHKGHPPSEP

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

>50744_50744_11_MAGEA4-SMPD1_MAGEA4_chrX_151092837_ENST00000370337_SMPD1_chr11_6413115_ENST00000342245_length(amino acids)=426AA_BP=1
MGTGSQTPSHIQLNQLQERRRSCFPGILGAQGLVLSPDDLAWLNHSSIWAFSPFPTSRTFPNVGPGALAKQWPWPQALGLWEAPIWHQVA
AQSRAVSTGRELGTKSSQTAGRATGLRGWVALMVEKPEGLEKLHVAPHAIYQVVPGGRQCVGQPIGFSSPVEKLPVRYGSRYVCLGQIQD
VGLMVQDHVRAPGVVSIYLVHTVTRIKADVGSCTGCQEGYSQRPAQSLFIIEDLKFIHMSVAKELSSQGVLIPGYNSVIIPAPALQTVPW
GNVANYMHFVSSILSSLKLPHQPLELSCGIRGVDQEPEVLTGTKIHIERDEAETGVWGKSIEPPNSEGAQGFGRQPGLPSLGHRFIEPAG

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

>50744_50744_12_MAGEA4-SMPD1_MAGEA4_chrX_151092837_ENST00000370337_SMPD1_chr11_6413115_ENST00000356761_length(amino acids)=370AA_BP=1
MGTGSQTPSHIQLNQLQERRRSCFPGILGAQGLVLSPDDLAWLNHSSIWAFSPFPTSRTFPNVGPGALAKQWPWPQALGLWEAPIWHQVA
AQSRAVSTGRELGTKSSQTAGRATGLRGWVALMVEKPEGLEKLHVAPHAIYQVVPGGRQCVGQPIGFSSPVEKLPVRYGSRYVCLGQIQD
VGLMVQDHVRAPGVVSIYLVHTVTRIKADVGSCTGCQEGYSQRPAQSLFIIEDLKFIHMSVAKELSSQGVLIPGYNSVIIPAPALQTVPW
GNVANYMHLSEGAQGFGRQPGLPSLGHRFIEPAGGVVALNEGGREAIDRCAFMVTHSRVHWHWPQELPHKCCDGGQGPQLVLTSLVPDIM

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

>50744_50744_13_MAGEA4-SMPD1_MAGEA4_chrX_151092837_ENST00000370340_SMPD1_chr11_6413115_ENST00000299397_length(amino acids)=316AA_BP=2
MLMVYWTGDIPAHDVWHQTRQDQLRALTTVTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKAWEPWLPAEALR
TLRYLSSVETQEGKRKVHIIGHIPPGHCLKSWSWNYYRIVARYENTLAAQFFGHTHVDEFEVFYDEETLSRPLAVAFLAPSATTYIGLNP
GYRVYQIDGNYSGSSHVVLDHETYILNLTQANIPGAIPHWQLLYRARETYGLPNTLPTAWHNLVYRMRGDMQLFQTFWFLYHKGHPPSEP

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

>50744_50744_14_MAGEA4-SMPD1_MAGEA4_chrX_151092837_ENST00000370340_SMPD1_chr11_6413115_ENST00000342245_length(amino acids)=426AA_BP=1
MGTGSQTPSHIQLNQLQERRRSCFPGILGAQGLVLSPDDLAWLNHSSIWAFSPFPTSRTFPNVGPGALAKQWPWPQALGLWEAPIWHQVA
AQSRAVSTGRELGTKSSQTAGRATGLRGWVALMVEKPEGLEKLHVAPHAIYQVVPGGRQCVGQPIGFSSPVEKLPVRYGSRYVCLGQIQD
VGLMVQDHVRAPGVVSIYLVHTVTRIKADVGSCTGCQEGYSQRPAQSLFIIEDLKFIHMSVAKELSSQGVLIPGYNSVIIPAPALQTVPW
GNVANYMHFVSSILSSLKLPHQPLELSCGIRGVDQEPEVLTGTKIHIERDEAETGVWGKSIEPPNSEGAQGFGRQPGLPSLGHRFIEPAG

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

>50744_50744_15_MAGEA4-SMPD1_MAGEA4_chrX_151092837_ENST00000370340_SMPD1_chr11_6413115_ENST00000356761_length(amino acids)=370AA_BP=1
MGTGSQTPSHIQLNQLQERRRSCFPGILGAQGLVLSPDDLAWLNHSSIWAFSPFPTSRTFPNVGPGALAKQWPWPQALGLWEAPIWHQVA
AQSRAVSTGRELGTKSSQTAGRATGLRGWVALMVEKPEGLEKLHVAPHAIYQVVPGGRQCVGQPIGFSSPVEKLPVRYGSRYVCLGQIQD
VGLMVQDHVRAPGVVSIYLVHTVTRIKADVGSCTGCQEGYSQRPAQSLFIIEDLKFIHMSVAKELSSQGVLIPGYNSVIIPAPALQTVPW
GNVANYMHLSEGAQGFGRQPGLPSLGHRFIEPAGGVVALNEGGREAIDRCAFMVTHSRVHWHWPQELPHKCCDGGQGPQLVLTSLVPDIM

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

>50744_50744_16_MAGEA4-SMPD1_MAGEA4_chrX_151092837_ENST00000393920_SMPD1_chr11_6413115_ENST00000299397_length(amino acids)=316AA_BP=2
MLMVYWTGDIPAHDVWHQTRQDQLRALTTVTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKAWEPWLPAEALR
TLRYLSSVETQEGKRKVHIIGHIPPGHCLKSWSWNYYRIVARYENTLAAQFFGHTHVDEFEVFYDEETLSRPLAVAFLAPSATTYIGLNP
GYRVYQIDGNYSGSSHVVLDHETYILNLTQANIPGAIPHWQLLYRARETYGLPNTLPTAWHNLVYRMRGDMQLFQTFWFLYHKGHPPSEP

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

>50744_50744_17_MAGEA4-SMPD1_MAGEA4_chrX_151092837_ENST00000393920_SMPD1_chr11_6413115_ENST00000342245_length(amino acids)=426AA_BP=1
MGTGSQTPSHIQLNQLQERRRSCFPGILGAQGLVLSPDDLAWLNHSSIWAFSPFPTSRTFPNVGPGALAKQWPWPQALGLWEAPIWHQVA
AQSRAVSTGRELGTKSSQTAGRATGLRGWVALMVEKPEGLEKLHVAPHAIYQVVPGGRQCVGQPIGFSSPVEKLPVRYGSRYVCLGQIQD
VGLMVQDHVRAPGVVSIYLVHTVTRIKADVGSCTGCQEGYSQRPAQSLFIIEDLKFIHMSVAKELSSQGVLIPGYNSVIIPAPALQTVPW
GNVANYMHFVSSILSSLKLPHQPLELSCGIRGVDQEPEVLTGTKIHIERDEAETGVWGKSIEPPNSEGAQGFGRQPGLPSLGHRFIEPAG

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

>50744_50744_18_MAGEA4-SMPD1_MAGEA4_chrX_151092837_ENST00000393920_SMPD1_chr11_6413115_ENST00000356761_length(amino acids)=370AA_BP=1
MGTGSQTPSHIQLNQLQERRRSCFPGILGAQGLVLSPDDLAWLNHSSIWAFSPFPTSRTFPNVGPGALAKQWPWPQALGLWEAPIWHQVA
AQSRAVSTGRELGTKSSQTAGRATGLRGWVALMVEKPEGLEKLHVAPHAIYQVVPGGRQCVGQPIGFSSPVEKLPVRYGSRYVCLGQIQD
VGLMVQDHVRAPGVVSIYLVHTVTRIKADVGSCTGCQEGYSQRPAQSLFIIEDLKFIHMSVAKELSSQGVLIPGYNSVIIPAPALQTVPW
GNVANYMHLSEGAQGFGRQPGLPSLGHRFIEPAGGVVALNEGGREAIDRCAFMVTHSRVHWHWPQELPHKCCDGGQGPQLVLTSLVPDIM

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

>50744_50744_19_MAGEA4-SMPD1_MAGEA4_chrX_151092837_ENST00000393921_SMPD1_chr11_6413115_ENST00000299397_length(amino acids)=316AA_BP=2
MLMVYWTGDIPAHDVWHQTRQDQLRALTTVTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKAWEPWLPAEALR
TLRYLSSVETQEGKRKVHIIGHIPPGHCLKSWSWNYYRIVARYENTLAAQFFGHTHVDEFEVFYDEETLSRPLAVAFLAPSATTYIGLNP
GYRVYQIDGNYSGSSHVVLDHETYILNLTQANIPGAIPHWQLLYRARETYGLPNTLPTAWHNLVYRMRGDMQLFQTFWFLYHKGHPPSEP

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

>50744_50744_20_MAGEA4-SMPD1_MAGEA4_chrX_151092837_ENST00000393921_SMPD1_chr11_6413115_ENST00000342245_length(amino acids)=426AA_BP=1
MGTGSQTPSHIQLNQLQERRRSCFPGILGAQGLVLSPDDLAWLNHSSIWAFSPFPTSRTFPNVGPGALAKQWPWPQALGLWEAPIWHQVA
AQSRAVSTGRELGTKSSQTAGRATGLRGWVALMVEKPEGLEKLHVAPHAIYQVVPGGRQCVGQPIGFSSPVEKLPVRYGSRYVCLGQIQD
VGLMVQDHVRAPGVVSIYLVHTVTRIKADVGSCTGCQEGYSQRPAQSLFIIEDLKFIHMSVAKELSSQGVLIPGYNSVIIPAPALQTVPW
GNVANYMHFVSSILSSLKLPHQPLELSCGIRGVDQEPEVLTGTKIHIERDEAETGVWGKSIEPPNSEGAQGFGRQPGLPSLGHRFIEPAG

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

>50744_50744_21_MAGEA4-SMPD1_MAGEA4_chrX_151092837_ENST00000393921_SMPD1_chr11_6413115_ENST00000356761_length(amino acids)=370AA_BP=1
MGTGSQTPSHIQLNQLQERRRSCFPGILGAQGLVLSPDDLAWLNHSSIWAFSPFPTSRTFPNVGPGALAKQWPWPQALGLWEAPIWHQVA
AQSRAVSTGRELGTKSSQTAGRATGLRGWVALMVEKPEGLEKLHVAPHAIYQVVPGGRQCVGQPIGFSSPVEKLPVRYGSRYVCLGQIQD
VGLMVQDHVRAPGVVSIYLVHTVTRIKADVGSCTGCQEGYSQRPAQSLFIIEDLKFIHMSVAKELSSQGVLIPGYNSVIIPAPALQTVPW
GNVANYMHLSEGAQGFGRQPGLPSLGHRFIEPAGGVVALNEGGREAIDRCAFMVTHSRVHWHWPQELPHKCCDGGQGPQLVLTSLVPDIM

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

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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:151092837/chr11:6413115)
- 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
MAGEA4 P43358	.
FUNCTION: Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor progression.	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

SMPD1

chrX:151092837

chr11:6413115

ENST00000342245

87_171

632.0

Domain

Saposin B-type

Tgene

SMPD1

chrX:151092837

chr11:6413115

ENST00000527275

87_171

631.0

Domain

Saposin B-type

- 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

MAGEA4

chrX:151092837

chr11:6413115

ENST00000276344

41_44

318.0

Compositional bias

Note=Poly-Ser

Hgene

MAGEA4

chrX:151092837

chr11:6413115

ENST00000360243

41_44

318.0

Compositional bias

Note=Poly-Ser

Hgene

MAGEA4

chrX:151092837

chr11:6413115

ENST00000370335

41_44

318.0

Compositional bias

Note=Poly-Ser

Hgene

MAGEA4

chrX:151092837

chr11:6413115

ENST00000370337

41_44

318.0

Compositional bias

Note=Poly-Ser

Hgene

MAGEA4

chrX:151092837

chr11:6413115

ENST00000370340

41_44

318.0

Compositional bias

Note=Poly-Ser

Hgene

MAGEA4

chrX:151092837

chr11:6413115

ENST00000393920

41_44

318.0

Compositional bias

Note=Poly-Ser

Hgene

MAGEA4

chrX:151092837

chr11:6413115

ENST00000393921

41_44

318.0

Compositional bias

Note=Poly-Ser

Hgene

MAGEA4

chrX:151092837

chr11:6413115

ENST00000276344

110_309

318.0

Domain

MAGE

Hgene

MAGEA4

chrX:151092837

chr11:6413115

ENST00000360243

110_309

318.0

Domain

MAGE

Hgene

MAGEA4

chrX:151092837

chr11:6413115

ENST00000370335

110_309

318.0

Domain

MAGE

Hgene

MAGEA4

chrX:151092837

chr11:6413115

ENST00000370337

110_309

318.0

Domain

MAGE

Hgene

MAGEA4

chrX:151092837

chr11:6413115

ENST00000370340

110_309

318.0

Domain

MAGE

Hgene

MAGEA4

chrX:151092837

chr11:6413115

ENST00000393920

110_309

318.0

Domain

MAGE

Hgene

MAGEA4

chrX:151092837

chr11:6413115

ENST00000393921

110_309

318.0

Domain

MAGE

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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 >>>888_MAGEA4_151092837_SMPD1_6413115_888_MAGEA4_151092837_SMPD1_6413115_ranked_0.pdb	MAGEA4	151092837	151092837	ENST00000342245	SMPD1	chr11	6413115	+	MGTGSQTPSHIQLNQLQERRRSCFPGILGAQGLVLSPDDLAWLNHSSIWAFSPFPTSRTFPNVGPGALAKQWPWPQALGLWEAPIWHQVA AQSRAVSTGRELGTKSSQTAGRATGLRGWVALMVEKPEGLEKLHVAPHAIYQVVPGGRQCVGQPIGFSSPVEKLPVRYGSRYVCLGQIQD VGLMVQDHVRAPGVVSIYLVHTVTRIKADVGSCTGCQEGYSQRPAQSLFIIEDLKFIHMSVAKELSSQGVLIPGYNSVIIPAPALQTVPW GNVANYMHFVSSILSSLKLPHQPLELSCGIRGVDQEPEVLTGTKIHIERDEAETGVWGKSIEPPNSEGAQGFGRQPGLPSLGHRFIEPAG	426

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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.

MAGEA4_pLDDT.png

SMPD1_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
MAGEA4
SMPD1

- 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 MAGEA4-SMPD1

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 MAGEA4-SMPD1

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