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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:SASH1-MLLT4

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: SASH1-MLLT4
	FusionPDB ID: 79232
	FusionGDB2.0 ID: 79232
		Hgene	Tgene
	Gene symbol	SASH1	MLLT4
	Gene ID	23328	4301
	Gene name	SAM and SH3 domain containing 1	afadin, adherens junction formation factor
	Synonyms	CAPOK\|DUH1\|SH3D6A\|dJ323M4.1	AF6\|MLL-AF6\|MLLT4\|l-afadin
	Cytomap	6q24.3-q25.1	6q27
	Type of gene	protein-coding	protein-coding
	Description	SAM and SH3 domain-containing protein 1proline-glutamate repeat-containing protein	afadinALL1-fused gene from chromosome 6 proteinmyeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4myeloid/lymphoid or mixed-lineage leukemia; translocated to, 4protein AF-6
	Modification date	20200313	20200322
	UniProtAcc	O94885	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000367467, ENST00000367469, ENST00000470750,	ENST00000507679, ENST00000344191, ENST00000351017, ENST00000366806, ENST00000392108, ENST00000392112, ENST00000400822, ENST00000447894,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	9 X 6 X 6=324	8 X 5 X 6=240
	# samples	8	8
	** MAII score	log2(8/324*10)=-2.01792190799726 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(8/240*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: SASH1 [Title/Abstract] AND MLLT4 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	MLLT4(168281197)-SASH1(148711270), # samples:2 SASH1(148841029)-MLLT4(168343809), # samples:2
Anticipated loss of major functional domain due to fusion event.	MLLT4-SASH1 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. MLLT4-SASH1 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. SASH1-MLLT4 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. SASH1-MLLT4 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. SASH1-MLLT4 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. SASH1-MLLT4 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	SASH1	GO:0000209	protein polyubiquitination	23776175
Hgene	SASH1	GO:0010595	positive regulation of endothelial cell migration	23776175
Hgene	SASH1	GO:1900044	regulation of protein K63-linked ubiquitination	23776175
Hgene	SASH1	GO:1902498	regulation of protein autoubiquitination	23776175

Fusion gene breakpoints across SASH1 (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 MLLT4 (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	LGG	TCGA-HT-A5RC-01A	SASH1	chr6	148841029	-	MLLT4	chr6	168343809	+
ChimerDB4	LGG	TCGA-HT-A5RC	SASH1	chr6	148841029	+	MLLT4	chr6	168343809	+

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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)
ENST00000367467	SASH1	chr6	148841029	+	ENST00000344191	MLLT4	chr6	168343809	+	3683	1684	157	3603	1148
ENST00000367467	SASH1	chr6	148841029	+	ENST00000351017	MLLT4	chr6	168343809	+	4236	1684	157	4080	1307
ENST00000367467	SASH1	chr6	148841029	+	ENST00000392108	MLLT4	chr6	168343809	+	5276	1684	157	3561	1134
ENST00000367467	SASH1	chr6	148841029	+	ENST00000392112	MLLT4	chr6	168343809	+	5973	1684	157	3885	1242
ENST00000367467	SASH1	chr6	148841029	+	ENST00000366806	MLLT4	chr6	168343809	+	6168	1684	157	4080	1307
ENST00000367467	SASH1	chr6	148841029	+	ENST00000447894	MLLT4	chr6	168343809	+	4081	1684	157	4080	1308
ENST00000367467	SASH1	chr6	148841029	+	ENST00000400822	MLLT4	chr6	168343809	+	6202	1684	157	4113	1318

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
ENST00000367467	ENST00000344191	SASH1	chr6	148841029	+	MLLT4	chr6	168343809	+	0.0046147	0.99538535
ENST00000367467	ENST00000351017	SASH1	chr6	148841029	+	MLLT4	chr6	168343809	+	0.00539525	0.99460477
ENST00000367467	ENST00000392108	SASH1	chr6	148841029	+	MLLT4	chr6	168343809	+	0.001122104	0.99887794
ENST00000367467	ENST00000392112	SASH1	chr6	148841029	+	MLLT4	chr6	168343809	+	0.000500605	0.99949944
ENST00000367467	ENST00000366806	SASH1	chr6	148841029	+	MLLT4	chr6	168343809	+	0.000929331	0.9990707
ENST00000367467	ENST00000447894	SASH1	chr6	148841029	+	MLLT4	chr6	168343809	+	0.006776465	0.99322355
ENST00000367467	ENST00000400822	SASH1	chr6	148841029	+	MLLT4	chr6	168343809	+	0.000631416	0.9993686

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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

>79232_79232_1_SASH1-MLLT4_SASH1_chr6_148841029_ENST00000367467_MLLT4_chr6_168343809_ENST00000344191_length(amino acids)=1148AA_BP=509
MLLGRANSPPYNSVVRTLPPATLLLRRAGWESFWSCQSRSPWPPRPEVRAPAKGPRGVAGAAGACSAGARLGDAAGGDPASGQAARGCGA
RAPRGLGRTARARDTAMEDAGAAGPGPEPEPEPEPEPEPAPEPEPEPKPGAGTSEAFSRLWTDVMGILDGSLGNIDDLAQQYADYYNTCF
SDVCERMEELRKRRVSQDLEVEKPDASPTSLQLRSQIEESLGFCSAVSTPEVERKNPLHKSNSEDSSVGKGDWKKKNKYFWQNFRKNQKG
IMRQTSKGEDVGYVASEITMSDEERIQLMMMVKEKMITIEEALARLKEYEAQHRQSAALDPADWPDGSYPTFDGSSNCNSREQSDDETEE
SVKFKRLHKLVNSTRRVRKKLIRVEEMKKPSTEGGEEHVFENSPVLDERSALYSGVHKKPLFFDGSPEKPPEDDSDSLTTSPSSSSLDTW
GAGRKLVKTFSKGESRGLIKPPKKMGTFFSYPEEEKAQKVSRSLTEGEMKKGLGSLSHGGAGQDKLGIYVKSVVKGGAADVDGRLAAGDQ
LLSVDGRSLVGLSQERAAELMTRTSSVVTLEVAKQGAIYHGLATLLNQPSPMMQRISDRRGSGKPRPKSEGFELYNNSTQNGSPESPQLP
WAEYSEPKKLPGDDRLMKNRADHRSSPNVANQPPSPGGKSAYASGTTAKITSVSTGNLCTEEQTPPPRPEAYPIPTQTYTREYFTFPASK
SQDRMAPPQNQWPNYEEKPHMHTDSNHSSIAIQRVTRSQEELREDKAYQLERHRIEAAMDRKSDSDMWINQSSSLDSSTSSQEHLNHSSK
SVTPASTLTKSGPGRWKTPAAIPATPVAVSQPIRTDLPPPPPPPPVHYAGDFDGMSMDLPLPPPPSANQIGLPSAQVAAAERRKREEHQR
WYEKEKARLEEERERKRREQERKLGQMRTQSLNPAPFSPLTAQQMKPEKPSTLQRPQETVIRELQPQQQPRTIERRDLQYITVSKEELSS
GDSLSPDPWKRDAKEKLEKQQQMHIVDMLSKEIQELQSKPDRSAEESDRLRKLMLEWQFQKRLQESKQKDEDDEEEEDDDVDTMLIMQRL

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>79232_79232_2_SASH1-MLLT4_SASH1_chr6_148841029_ENST00000367467_MLLT4_chr6_168343809_ENST00000351017_length(amino acids)=1307AA_BP=509
MLLGRANSPPYNSVVRTLPPATLLLRRAGWESFWSCQSRSPWPPRPEVRAPAKGPRGVAGAAGACSAGARLGDAAGGDPASGQAARGCGA
RAPRGLGRTARARDTAMEDAGAAGPGPEPEPEPEPEPEPAPEPEPEPKPGAGTSEAFSRLWTDVMGILDGSLGNIDDLAQQYADYYNTCF
SDVCERMEELRKRRVSQDLEVEKPDASPTSLQLRSQIEESLGFCSAVSTPEVERKNPLHKSNSEDSSVGKGDWKKKNKYFWQNFRKNQKG
IMRQTSKGEDVGYVASEITMSDEERIQLMMMVKEKMITIEEALARLKEYEAQHRQSAALDPADWPDGSYPTFDGSSNCNSREQSDDETEE
SVKFKRLHKLVNSTRRVRKKLIRVEEMKKPSTEGGEEHVFENSPVLDERSALYSGVHKKPLFFDGSPEKPPEDDSDSLTTSPSSSSLDTW
GAGRKLVKTFSKGESRGLIKPPKKMGTFFSYPEEEKAQKVSRSLTEGEMKKGLGSLSHGGAGQDKLGIYVKSVVKGGAADVDGRLAAGDQ
LLSVDGRSLVGLSQERAAELMTRTSSVVTLEVAKQGAIYHGLATLLNQPSPMMQRISDRRGSGKPRPKSEGFELYNNSTQNGSPESPQLP
WAEYSEPKKLPGDDRLMKNRADHRSSPNVANQPPSPGGKSAYASGTTAKITSVSTGNLCTEEQTPPPRPEAYPIPTQTYTREYFTFPASK
SQDRMAPPQNQWPNYEEKPHMHTDSNHSSIAIQRVTRSQEELREDKAYQLERHRIEAAMDRKSDSDMWINQSSSLDSSTSSQEHLNHSSK
SVTPASTLTKSGPGRWKTPAAIPATPVAVSQPIRTDLPPPPPPPPVHYAGDFDGMSMDLPLPPPPSANQIGLPSAQVAAAERRKREEHQR
WYEKEKARLEEERERKRREQERKLGQMRTQSLNPAPFSPLTAQQMKPEKPSTLQRPQETVIRELQPQQQPRTIERRDLQYITVSKEELSS
GDSLSPDPWKRDAKEKLEKQQQMHIVDMLSKEIQELQSKPDRSAEESDRLRKLMLEWQFQKRLQESKQKDEDDEEEEDDDVDTMLIMQRL
EAERRARLQDEERRRQQQLEEMRKREAEDRARQEEERRRQEEERTKRDAEEKRRQEEGYYSRLEAERRRQHDEAARRLLEPEAPGLCRPP
LPRDYEPPSPSPAPGAPPPPPQRNASYLKTQVLSPDSLFTAKFVAYNEEEEEEDCSLAGPNSYPGSTGAAVGAHDACRDAKEKRSKSQDA

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>79232_79232_3_SASH1-MLLT4_SASH1_chr6_148841029_ENST00000367467_MLLT4_chr6_168343809_ENST00000366806_length(amino acids)=1307AA_BP=509
MLLGRANSPPYNSVVRTLPPATLLLRRAGWESFWSCQSRSPWPPRPEVRAPAKGPRGVAGAAGACSAGARLGDAAGGDPASGQAARGCGA
RAPRGLGRTARARDTAMEDAGAAGPGPEPEPEPEPEPEPAPEPEPEPKPGAGTSEAFSRLWTDVMGILDGSLGNIDDLAQQYADYYNTCF
SDVCERMEELRKRRVSQDLEVEKPDASPTSLQLRSQIEESLGFCSAVSTPEVERKNPLHKSNSEDSSVGKGDWKKKNKYFWQNFRKNQKG
IMRQTSKGEDVGYVASEITMSDEERIQLMMMVKEKMITIEEALARLKEYEAQHRQSAALDPADWPDGSYPTFDGSSNCNSREQSDDETEE
SVKFKRLHKLVNSTRRVRKKLIRVEEMKKPSTEGGEEHVFENSPVLDERSALYSGVHKKPLFFDGSPEKPPEDDSDSLTTSPSSSSLDTW
GAGRKLVKTFSKGESRGLIKPPKKMGTFFSYPEEEKAQKVSRSLTEGEMKKGLGSLSHGGAGQDKLGIYVKSVVKGGAADVDGRLAAGDQ
LLSVDGRSLVGLSQERAAELMTRTSSVVTLEVAKQGAIYHGLATLLNQPSPMMQRISDRRGSGKPRPKSEGFELYNNSTQNGSPESPQLP
WAEYSEPKKLPGDDRLMKNRADHRSSPNVANQPPSPGGKSAYASGTTAKITSVSTGNLCTEEQTPPPRPEAYPIPTQTYTREYFTFPASK
SQDRMAPPQNQWPNYEEKPHMHTDSNHSSIAIQRVTRSQEELREDKAYQLERHRIEAAMDRKSDSDMWINQSSSLDSSTSSQEHLNHSSK
SVTPASTLTKSGPGRWKTPAAIPATPVAVSQPIRTDLPPPPPPPPVHYAGDFDGMSMDLPLPPPPSANQIGLPSAQVAAAERRKREEHQR
WYEKEKARLEEERERKRREQERKLGQMRTQSLNPAPFSPLTAQQMKPEKPSTLQRPQETVIRELQPQQQPRTIERRDLQYITVSKEELSS
GDSLSPDPWKRDAKEKLEKQQQMHIVDMLSKEIQELQSKPDRSAEESDRLRKLMLEWQFQKRLQESKQKDEDDEEEEDDDVDTMLIMQRL
EAERRARLQDEERRRQQQLEEMRKREAEDRARQEEERRRQEEERTKRDAEEKRRQEEGYYSRLEAERRRQHDEAARRLLEPEAPGLCRPP
LPRDYEPPSPSPAPGAPPPPPQRNASYLKTQVLSPDSLFTAKFVAYNEEEEEEDCSLAGPNSYPGSTGAAVGAHDACRDAKEKRSKSQDA

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>79232_79232_4_SASH1-MLLT4_SASH1_chr6_148841029_ENST00000367467_MLLT4_chr6_168343809_ENST00000392108_length(amino acids)=1134AA_BP=509
MLLGRANSPPYNSVVRTLPPATLLLRRAGWESFWSCQSRSPWPPRPEVRAPAKGPRGVAGAAGACSAGARLGDAAGGDPASGQAARGCGA
RAPRGLGRTARARDTAMEDAGAAGPGPEPEPEPEPEPEPAPEPEPEPKPGAGTSEAFSRLWTDVMGILDGSLGNIDDLAQQYADYYNTCF
SDVCERMEELRKRRVSQDLEVEKPDASPTSLQLRSQIEESLGFCSAVSTPEVERKNPLHKSNSEDSSVGKGDWKKKNKYFWQNFRKNQKG
IMRQTSKGEDVGYVASEITMSDEERIQLMMMVKEKMITIEEALARLKEYEAQHRQSAALDPADWPDGSYPTFDGSSNCNSREQSDDETEE
SVKFKRLHKLVNSTRRVRKKLIRVEEMKKPSTEGGEEHVFENSPVLDERSALYSGVHKKPLFFDGSPEKPPEDDSDSLTTSPSSSSLDTW
GAGRKLVKTFSKGESRGLIKPPKKMGTFFSYPEEEKAQKVSRSLTEGEMKKGLGSLSHGGAGQDKLGIYVKSVVKGGAADVDGRLAAGDQ
LLSVDGRSLVGLSQERAAELMTRTSSVVTLEVAKQGAIYHGLATLLNQPSPMMQRISDRRGSGKPRPKSEGFELYNNSTQNGSPESPQLP
WAEYSEPKKLPGDDRLMKNRADHRSSPNVANQPPSPGGKSAYASGTTAKITSVSTGNLCTEEQTPPPRPEAYPIPTQTYTREYFTFPASK
SQDRMAPPQNQWPNYEEKPHMHTDSNHSSIAIQRVTRSQEELREDKAYQLERHRIEAAMDRKSDSDMWINQSSSLDSSTSSQEHLNHSSK
SVTPASTLTKSGPGRWKTPAAIPATPVAVSQPIRTDLPPPPPPPPVHYAGDFDGMSMDLPLPPPPSANQIGLPSAQVAAAERRKREEHQR
WYEKEKARLEEERERKRREQERKLGQMRTQSLNPAPFSPLTAQQMKPEKPSTLQRPQETVIRELQPQQQPRTIERRDLQYITVSKEELSS
GDSLSPDPWKRDAKEKLEKQQQMHIVDMLSKEIQELQSKPDRSAEESDRLRKLMLEWQFQKRLQESKQKDEDDEEEEDDDVDTMLIMQRL

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>79232_79232_5_SASH1-MLLT4_SASH1_chr6_148841029_ENST00000367467_MLLT4_chr6_168343809_ENST00000392112_length(amino acids)=1242AA_BP=509
MLLGRANSPPYNSVVRTLPPATLLLRRAGWESFWSCQSRSPWPPRPEVRAPAKGPRGVAGAAGACSAGARLGDAAGGDPASGQAARGCGA
RAPRGLGRTARARDTAMEDAGAAGPGPEPEPEPEPEPEPAPEPEPEPKPGAGTSEAFSRLWTDVMGILDGSLGNIDDLAQQYADYYNTCF
SDVCERMEELRKRRVSQDLEVEKPDASPTSLQLRSQIEESLGFCSAVSTPEVERKNPLHKSNSEDSSVGKGDWKKKNKYFWQNFRKNQKG
IMRQTSKGEDVGYVASEITMSDEERIQLMMMVKEKMITIEEALARLKEYEAQHRQSAALDPADWPDGSYPTFDGSSNCNSREQSDDETEE
SVKFKRLHKLVNSTRRVRKKLIRVEEMKKPSTEGGEEHVFENSPVLDERSALYSGVHKKPLFFDGSPEKPPEDDSDSLTTSPSSSSLDTW
GAGRKLVKTFSKGESRGLIKPPKKMGTFFSYPEEEKAQKVSRSLTEGEMKKGLGSLSHGGAGQDKLGIYVKSVVKGGAADDGRLAAGDQL
LSVDGRSLVGLSQERAAELMTRTSSVVTLEVAKQGAIYHGLATLLNQPSPMMQRISDRRGSGKPRPKSEGFELYNNSTQNGSPESPQLPW
AEYSEPKKLPGDDRLMKNRADHRSSPNVANQPPSPGGKSAYASGTTAKITSVSTGNLCTEEQTPPPRPEAYPIPTQTYTREYFTFPASKS
QDRMAPPQNQWPNYEEKPHMHTDSNHSSIAIQRVTRSQEELREDKAYQLERHRIEAAMDRKSDSDMWINQSSSLDSSTSSQEHLNHSSKS
VTPASTLTKSGPGRWKTPAAIPATPVAVSQPIRTDLPPPPPPPPVHYAGDFDGMSMDLPLPPPPSANQIGLPSAQVAAAERRKREEHQRW
YEKEKARLEEERERKRREQERKLGQMRTQSLNPAPFSPLTAQQMKPEKPSTLQRPQETVIRELQPQQQPRTIERRDLQYITVSKEELSSG
DSLSPDPWKRDAKEKLEKQQQMHIVDMLSKEIQELQSKPDRSAEESDRLRKLMLEWQFQKRLQESKQKDEDDEEEEDDDVDTMLIMQRLE
AERRARLQDEERRRQQQLEEMRKREAEDRARQEEERRRQEEERTKRDAEEKRRQEEGYYSRLEAERRRQHDEAARRLLEPEAPGPNSYPG

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>79232_79232_6_SASH1-MLLT4_SASH1_chr6_148841029_ENST00000367467_MLLT4_chr6_168343809_ENST00000400822_length(amino acids)=1318AA_BP=509
MLLGRANSPPYNSVVRTLPPATLLLRRAGWESFWSCQSRSPWPPRPEVRAPAKGPRGVAGAAGACSAGARLGDAAGGDPASGQAARGCGA
RAPRGLGRTARARDTAMEDAGAAGPGPEPEPEPEPEPEPAPEPEPEPKPGAGTSEAFSRLWTDVMGILDGSLGNIDDLAQQYADYYNTCF
SDVCERMEELRKRRVSQDLEVEKPDASPTSLQLRSQIEESLGFCSAVSTPEVERKNPLHKSNSEDSSVGKGDWKKKNKYFWQNFRKNQKG
IMRQTSKGEDVGYVASEITMSDEERIQLMMMVKEKMITIEEALARLKEYEAQHRQSAALDPADWPDGSYPTFDGSSNCNSREQSDDETEE
SVKFKRLHKLVNSTRRVRKKLIRVEEMKKPSTEGGEEHVFENSPVLDERSALYSGVHKKPLFFDGSPEKPPEDDSDSLTTSPSSSSLDTW
GAGRKLVKTFSKGESRGLIKPPKKMGTFFSYPEEEKAQKVSRSLTEGEMKKGLGSLSHGGAGQDKLGIYVKSVVKGGAADVDGRLAAGDQ
LLSVDGRSLVGLSQERAAELMTRTSSVVTLEVAKQGAIYHGLATLLNQPSPMMQRISDRRGSGKPRPKSEGFELYNNSTQNGSPESPQLP
WAEYSEPKKLPGDDRLMKNRADHRSSPNVANQPPSPGGKSAYASGTTAKITSVSTGNLCTEEQTPPPRPEAYPIPTQTYTREYFTFPASK
SQDRMAPPQNQWPNYEEKPHMHTDSNHSSIAIQRVTRSQEELREDKAYQLERHRIEAAMDRKSDSDMWINQSSSLDSSTSSQEHLNHSSK
SVTPASTLTKSGPGRWKTPAAIPATPVAVSQPIRTDLPPPPPPPPVHYAGDFDGMSMDLPLPPPPSANQIGLPSAQVAAAERRKREEHQR
WYEKEKARLEEERERKRREQERKLGQMRTQSLNPAPFSPLTAQQMKPEKPSTLQRPQETVIRELQPQQQPRTIERRDLQYITVSKEELSS
GDSLSPDPWKRDAKEKLEKQQQMHIVDMLSKEIQELQSKPDRSAEESDRLRKLMLEWQFQKRLQESKQKDEDDEEEEDDDVDTMLIMQRL
EAERRARTAMPAISVLDLLQDEERRRQQQLEEMRKREAEDRARQEEERRRQEEERTKRDAEEKRRQEEGYYSRLEAERRRQHDEAARRLL
EPEAPGLCRPPLPRDYEPPSPSPAPGAPPPPPQRNASYLKTQVLSPDSLFTAKFVAYNEEEEEEDCSLAGPNSYPGSTGAAVGAHDACRD

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>79232_79232_7_SASH1-MLLT4_SASH1_chr6_148841029_ENST00000367467_MLLT4_chr6_168343809_ENST00000447894_length(amino acids)=1308AA_BP=509
MLLGRANSPPYNSVVRTLPPATLLLRRAGWESFWSCQSRSPWPPRPEVRAPAKGPRGVAGAAGACSAGARLGDAAGGDPASGQAARGCGA
RAPRGLGRTARARDTAMEDAGAAGPGPEPEPEPEPEPEPAPEPEPEPKPGAGTSEAFSRLWTDVMGILDGSLGNIDDLAQQYADYYNTCF
SDVCERMEELRKRRVSQDLEVEKPDASPTSLQLRSQIEESLGFCSAVSTPEVERKNPLHKSNSEDSSVGKGDWKKKNKYFWQNFRKNQKG
IMRQTSKGEDVGYVASEITMSDEERIQLMMMVKEKMITIEEALARLKEYEAQHRQSAALDPADWPDGSYPTFDGSSNCNSREQSDDETEE
SVKFKRLHKLVNSTRRVRKKLIRVEEMKKPSTEGGEEHVFENSPVLDERSALYSGVHKKPLFFDGSPEKPPEDDSDSLTTSPSSSSLDTW
GAGRKLVKTFSKGESRGLIKPPKKMGTFFSYPEEEKAQKVSRSLTEGEMKKGLGSLSHGGAGQDKLGIYVKSVVKGGAADVDGRLAAGDQ
LLSVDGRSLVGLSQERAAELMTRTSSVVTLEVAKQGAIYHGLATLLNQPSPMMQRISDRRGSGKPRPKSEGFELYNNSTQNGSPESPQLP
WAEYSEPKKLPGDDRLMKNRADHRSSPNVANQPPSPGGKSAYASGTTAKITSVSTGNLCTEEQTPPPRPEAYPIPTQTYTREYFTFPASK
SQDRMAPPQNQWPNYEEKPHMHTDSNHSSIAIQRVTRSQEELREDKAYQLERHRIEAAMDRKSDSDMWINQSSSLDSSTSSQEHLNHSSK
SVTPASTLTKSGPGRWKTPAAIPATPVAVSQPIRTDLPPPPPPPPVHYAGDFDGMSMDLPLPPPPSANQIGLPSAQVAAAERRKREEHQR
WYEKEKARLEEERERKRREQERKLGQMRTQSLNPAPFSPLTAQQMKPEKPSTLQRPQETVIRELQPQQQPRTIERRDLQYITVSKEELSS
GDSLSPDPWKRDAKEKLEKQQQMHIVDMLSKEIQELQSKPDRSAEESDRLRKLMLEWQFQKRLQESKQKDEDDEEEEDDDVDTMLIMQRL
EAERRARLQDEERRRQQQLEEMRKREAEDRARQEEERRRQEEERTKRDAEEKRRQEEGYYSRLEAERRRQHDEAARRLLEPEAPGLCRPP
LPRDYEPPSPSPAPGAPPPPPQRNASYLKTQVLSPDSLFTAKFVAYNEEEEEEDCSLAGPNSYPGSTGAAVGAHDACRDAKEKRSKSQDA

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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/chr6:168281197/chr6:148711270)
- 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
SASH1 O94885	.
FUNCTION: Is a positive regulator of NF-kappa-B signaling downstream of TLR4 activation. It acts as a scaffold molecule to assemble a molecular complex that includes TRAF6, MAP3K7, CHUK and IKBKB, thereby facilitating NF-kappa-B signaling activation (PubMed:23776175). Regulates TRAF6 and MAP3K7 ubiquitination (PubMed:23776175). Involved in the regulation of cell mobility (PubMed:23333244, PubMed:23776175, PubMed:25315659). Regulates lipolysaccharide (LPS)-induced endothelial cell migration (PubMed:23776175). Is involved in the regulation of skin pigmentation through the control of melanocyte migration in the epidermis (PubMed:23333244). {ECO:0000269\|PubMed:23333244, ECO:0000269\|PubMed:23776175, ECO:0000269\|PubMed:25315659}.	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

Hgene

SASH1

chr6:148841029

chr6:168343809

ENST00000367467

9_33

403.0

1248.0

Compositional bias

Note=Pro-rich

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000392108

1408_1448

1026.0

1652.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000392108

1523_1667

1026.0

1652.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000400822

1408_1448

1025.0

1835.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000400822

1523_1667

1025.0

1835.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000447894

1408_1448

1026.0

1825.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000447894

1523_1667

1026.0

1825.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000392108

1346_1392

1026.0

1652.0

Compositional bias

Note=Pro-rich

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000392108

1578_1588

1026.0

1652.0

Compositional bias

Note=Asp/Glu-rich (acidic)

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000392108

1678_1708

1026.0

1652.0

Compositional bias

Note=Pro-rich

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000400822

1346_1392

1025.0

1835.0

Compositional bias

Note=Pro-rich

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000400822

1578_1588

1025.0

1835.0

Compositional bias

Note=Asp/Glu-rich (acidic)

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000400822

1678_1708

1025.0

1835.0

Compositional bias

Note=Pro-rich

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000447894

1346_1392

1026.0

1825.0

Compositional bias

Note=Pro-rich

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000447894

1578_1588

1026.0

1825.0

Compositional bias

Note=Asp/Glu-rich (acidic)

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000447894

1678_1708

1026.0

1825.0

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

SASH1

chr6:148841029

chr6:168343809

ENST00000367467

978_1059

403.0

1248.0

Compositional bias

Note=Pro-rich

Hgene

SASH1

chr6:148841029

chr6:168343809

ENST00000367467

1177_1241

403.0

1248.0

Domain

SAM 2

Hgene

SASH1

chr6:148841029

chr6:168343809

ENST00000367467

554_615

403.0

1248.0

Domain

SH3

Hgene

SASH1

chr6:148841029

chr6:168343809

ENST00000367467

633_697

403.0

1248.0

Domain

SAM 1

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000392108

146_185

1026.0

1652.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000400822

146_185

1025.0

1835.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000447894

146_185

1026.0

1825.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000392108

163_175

1026.0

1652.0

Compositional bias

Note=Glu/Lys-rich

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000400822

163_175

1025.0

1835.0

Compositional bias

Note=Glu/Lys-rich

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000447894

163_175

1026.0

1825.0

Compositional bias

Note=Glu/Lys-rich

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000392108

1007_1093

1026.0

1652.0

Domain

PDZ

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000392108

246_348

1026.0

1652.0

Domain

Ras-associating 2

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000392108

39_133

1026.0

1652.0

Domain

Ras-associating 1

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000392108

426_492

1026.0

1652.0

Domain

Note=FHA

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000392108

668_908

1026.0

1652.0

Domain

Dilute

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000400822

1007_1093

1025.0

1835.0

Domain

PDZ

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000400822

246_348

1025.0

1835.0

Domain

Ras-associating 2

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000400822

39_133

1025.0

1835.0

Domain

Ras-associating 1

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000400822

426_492

1025.0

1835.0

Domain

Note=FHA

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000400822

668_908

1025.0

1835.0

Domain

Dilute

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000447894

1007_1093

1026.0

1825.0

Domain

PDZ

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000447894

246_348

1026.0

1825.0

Domain

Ras-associating 2

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000447894

39_133

1026.0

1825.0

Domain

Ras-associating 1

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000447894

426_492

1026.0

1825.0

Domain

Note=FHA

Tgene

MLLT4

chr6:148841029

chr6:168343809

ENST00000447894

668_908

1026.0

1825.0

Domain

Dilute

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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 >>>2002_SASH1_148841029_MLLT4_168343809_ranked_0.pdb	SASH1	148841029	148841029	ENST00000400822	MLLT4	chr6	168343809	+	MLLGRANSPPYNSVVRTLPPATLLLRRAGWESFWSCQSRSPWPPRPEVRAPAKGPRGVAGAAGACSAGARLGDAAGGDPASGQAARGCGA RAPRGLGRTARARDTAMEDAGAAGPGPEPEPEPEPEPEPAPEPEPEPKPGAGTSEAFSRLWTDVMGILDGSLGNIDDLAQQYADYYNTCF SDVCERMEELRKRRVSQDLEVEKPDASPTSLQLRSQIEESLGFCSAVSTPEVERKNPLHKSNSEDSSVGKGDWKKKNKYFWQNFRKNQKG IMRQTSKGEDVGYVASEITMSDEERIQLMMMVKEKMITIEEALARLKEYEAQHRQSAALDPADWPDGSYPTFDGSSNCNSREQSDDETEE SVKFKRLHKLVNSTRRVRKKLIRVEEMKKPSTEGGEEHVFENSPVLDERSALYSGVHKKPLFFDGSPEKPPEDDSDSLTTSPSSSSLDTW GAGRKLVKTFSKGESRGLIKPPKKMGTFFSYPEEEKAQKVSRSLTEGEMKKGLGSLSHGGAGQDKLGIYVKSVVKGGAADVDGRLAAGDQ LLSVDGRSLVGLSQERAAELMTRTSSVVTLEVAKQGAIYHGLATLLNQPSPMMQRISDRRGSGKPRPKSEGFELYNNSTQNGSPESPQLP WAEYSEPKKLPGDDRLMKNRADHRSSPNVANQPPSPGGKSAYASGTTAKITSVSTGNLCTEEQTPPPRPEAYPIPTQTYTREYFTFPASK SQDRMAPPQNQWPNYEEKPHMHTDSNHSSIAIQRVTRSQEELREDKAYQLERHRIEAAMDRKSDSDMWINQSSSLDSSTSSQEHLNHSSK SVTPASTLTKSGPGRWKTPAAIPATPVAVSQPIRTDLPPPPPPPPVHYAGDFDGMSMDLPLPPPPSANQIGLPSAQVAAAERRKREEHQR WYEKEKARLEEERERKRREQERKLGQMRTQSLNPAPFSPLTAQQMKPEKPSTLQRPQETVIRELQPQQQPRTIERRDLQYITVSKEELSS GDSLSPDPWKRDAKEKLEKQQQMHIVDMLSKEIQELQSKPDRSAEESDRLRKLMLEWQFQKRLQESKQKDEDDEEEEDDDVDTMLIMQRL EAERRARTAMPAISVLDLLQDEERRRQQQLEEMRKREAEDRARQEEERRRQEEERTKRDAEEKRRQEEGYYSRLEAERRRQHDEAARRLL EPEAPGLCRPPLPRDYEPPSPSPAPGAPPPPPQRNASYLKTQVLSPDSLFTAKFVAYNEEEEEEDCSLAGPNSYPGSTGAAVGAHDACRD	1318

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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.

SASH1_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
SASH1
MLLT4

- 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 SASH1-MLLT4

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 SASH1-MLLT4

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
Hgene	SASH1	C2675711	Dyschromatosis Universalis Hereditaria 1	6	CTD_human;GENOMICS_ENGLAND;UNIPROT
Hgene	SASH1	C3492944	Lentiginosis Profusa	1	ORPHANET