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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:MLLT4-SASH1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: MLLT4-SASH1
	FusionPDB ID: 54313
	FusionGDB2.0 ID: 54313
		Hgene	Tgene
	Gene symbol	MLLT4	SASH1
	Gene ID	4301	23328
	Gene name	afadin, adherens junction formation factor	SAM and SH3 domain containing 1
	Synonyms	AF6\|MLL-AF6\|MLLT4\|l-afadin	CAPOK\|DUH1\|SH3D6A\|dJ323M4.1
	Cytomap	6q27	6q24.3-q25.1
	Type of gene	protein-coding	protein-coding
	Description	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	SAM and SH3 domain-containing protein 1proline-glutamate repeat-containing protein
	Modification date	20200322	20200313
	UniProtAcc	.	O94885
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000344191, ENST00000351017, ENST00000366806, ENST00000392108, ENST00000392112, ENST00000400822, ENST00000447894, ENST00000507679,	ENST00000470750, ENST00000367467, ENST00000367469,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	15 X 7 X 10=1050	10 X 8 X 7=560
	# samples	16	12
	** MAII score	log2(16/1050*10)=-2.71424551766612 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(12/560*10)=-2.22239242133645 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: MLLT4 [Title/Abstract] AND SASH1 [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 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. 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 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	SASH1	GO:0000209	protein polyubiquitination	23776175
Tgene	SASH1	GO:0010595	positive regulation of endothelial cell migration	23776175
Tgene	SASH1	GO:1900044	regulation of protein K63-linked ubiquitination	23776175
Tgene	SASH1	GO:1902498	regulation of protein autoubiquitination	23776175

Fusion gene breakpoints across MLLT4 (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 SASH1 (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	MLLT4	chr6	168281197	-	SASH1	chr6	148711270	+
ChimerDB4	LGG	TCGA-HT-A5RC	MLLT4	chr6	168281197	+	SASH1	chr6	148711270	+

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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)
ENST00000344191	MLLT4	chr6	168281197	+	ENST00000367469	SASH1	chr6	148711270	+	1586	1069	172	1302	376
ENST00000344191	MLLT4	chr6	168281197	+	ENST00000367467	SASH1	chr6	148711270	+	8149	1069	172	4656	1494
ENST00000351017	MLLT4	chr6	168281197	+	ENST00000367469	SASH1	chr6	148711270	+	1586	1069	172	1302	376
ENST00000351017	MLLT4	chr6	168281197	+	ENST00000367467	SASH1	chr6	148711270	+	8149	1069	172	4656	1494
ENST00000392108	MLLT4	chr6	168281197	+	ENST00000367469	SASH1	chr6	148711270	+	1556	1039	142	1272	376
ENST00000392108	MLLT4	chr6	168281197	+	ENST00000367467	SASH1	chr6	148711270	+	8119	1039	142	4626	1494
ENST00000392112	MLLT4	chr6	168281197	+	ENST00000367469	SASH1	chr6	148711270	+	1553	1036	142	1269	375
ENST00000392112	MLLT4	chr6	168281197	+	ENST00000367467	SASH1	chr6	148711270	+	8116	1036	142	4623	1493
ENST00000366806	MLLT4	chr6	168281197	+	ENST00000367469	SASH1	chr6	148711270	+	1556	1039	142	1272	376
ENST00000366806	MLLT4	chr6	168281197	+	ENST00000367467	SASH1	chr6	148711270	+	8119	1039	142	4626	1494
ENST00000447894	MLLT4	chr6	168281197	+	ENST00000367469	SASH1	chr6	148711270	+	1414	897	0	1130	376
ENST00000447894	MLLT4	chr6	168281197	+	ENST00000367467	SASH1	chr6	148711270	+	7977	897	0	4484	1494
ENST00000400822	MLLT4	chr6	168281197	+	ENST00000367469	SASH1	chr6	148711270	+	1411	894	0	1127	375
ENST00000400822	MLLT4	chr6	168281197	+	ENST00000367467	SASH1	chr6	148711270	+	7974	894	0	4481	1493

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
ENST00000344191	ENST00000367469	MLLT4	chr6	168281197	+	SASH1	chr6	148711270	+	0.003189951	0.99681
ENST00000344191	ENST00000367467	MLLT4	chr6	168281197	+	SASH1	chr6	148711270	+	0.000356838	0.9996432
ENST00000351017	ENST00000367469	MLLT4	chr6	168281197	+	SASH1	chr6	148711270	+	0.003189951	0.99681
ENST00000351017	ENST00000367467	MLLT4	chr6	168281197	+	SASH1	chr6	148711270	+	0.000356838	0.9996432
ENST00000392108	ENST00000367469	MLLT4	chr6	168281197	+	SASH1	chr6	148711270	+	0.003006762	0.9969932
ENST00000392108	ENST00000367467	MLLT4	chr6	168281197	+	SASH1	chr6	148711270	+	0.000341025	0.99965894
ENST00000392112	ENST00000367469	MLLT4	chr6	168281197	+	SASH1	chr6	148711270	+	0.002818986	0.99718106
ENST00000392112	ENST00000367467	MLLT4	chr6	168281197	+	SASH1	chr6	148711270	+	0.000339698	0.99966025
ENST00000366806	ENST00000367469	MLLT4	chr6	168281197	+	SASH1	chr6	148711270	+	0.003006762	0.9969932
ENST00000366806	ENST00000367467	MLLT4	chr6	168281197	+	SASH1	chr6	148711270	+	0.000341025	0.99965894
ENST00000447894	ENST00000367469	MLLT4	chr6	168281197	+	SASH1	chr6	148711270	+	0.003041011	0.996959
ENST00000447894	ENST00000367467	MLLT4	chr6	168281197	+	SASH1	chr6	148711270	+	0.000271001	0.999729
ENST00000400822	ENST00000367469	MLLT4	chr6	168281197	+	SASH1	chr6	148711270	+	0.002801785	0.9971982
ENST00000400822	ENST00000367467	MLLT4	chr6	168281197	+	SASH1	chr6	148711270	+	0.000270287	0.9997297

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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

>54313_54313_1_MLLT4-SASH1_MLLT4_chr6_168281197_ENST00000344191_SASH1_chr6_148711270_ENST00000367467_length(amino acids)=1494AA_BP=299
MSAGGRDEERRKLADIIHHWNANRLDLFEISQPTEDLEFHGVMRFYFQDKAAGNFATKCIRVSSTATTQDVIETLAEKFRPDMRMLSSPK
YSLYEVHVSGERRLDIDEKPLVVQLNWNKDDREGRFVLKNENDAIPPKKAQSNGPEKQEKEGVIQNFKRTLSKKEKKEKKKREKEALRQA
SDKDDRPFQGEDVENSRLAAEVYKDMPETSFTRTISNPEVVMKRRRQQKLEKRMQEFRSSDGRPDSGGTLRIYADSLKPNIPYKTILLST
TDPADFAVAEALEKYGLEKENPKDYCIARDGSLGNIDDLAQQYADYYNTCFSDVCERMEELRKRRVSQDLEVEKPDASPTSLQLRSQIEE
SLGFCSAVSTPEVERKNPLHKSNSEDSSVGKGDWKKKNKYFWQNFRKNQKGIMRQTSKGEDVGYVASEITMSDEERIQLMMMVKEKMITI
EEALARLKEYEAQHRQSAALDPADWPDGSYPTFDGSSNCNSREQSDDETEESVKFKRLHKLVNSTRRVRKKLIRVEEMKKPSTEGGEEHV
FENSPVLDERSALYSGVHKKPLFFDGSPEKPPEDDSDSLTTSPSSSSLDTWGAGRKLVKTFSKGESRGLIKPPKKMGTFFSYPEEEKAQK
VSRSLTEGEMKKGLGSLSHGRTCSFGGFDLTNRSLHVGSNNSDPMGKEGDFVYKEVIKSPTASRISLGKKVKSVKETMRKRMSKKYSSSV
SEQDSGLDGMPGSPPPSQPDPEHLDKPKLKAGGSVESLRSSLSGQSSMSGQTVSTTDSSTSNRESVKSEDGDDEEPPYRGPFCGRARVHT
DFTPSPYDTDSLKLKKGDIIDIISKPPMGTWMGLLNNKVGTFKFIYVDVLSEDEEKPKRPTRRRRKGRPPQPKSVEDLLDRINLKEHMPT
FLFNGYEDLDTFKLLEEEDLDELNIRDPEHRAVLLTAVELLQEYDSNSDQSGSQEKLLVDSQGLSGCSPRDSGCYESSENLENGKTRKAS
LLSAKSSTEPSLKSFSRNQLGNYPTLPLMKSGDALKQGQEEGRLGGGLAPDTSKSCDPPGVTGLNKNRRSLPVSICRSCETLEGPQTVDT
WPRSHSLDDLQVEPGAEQDVPTEVTEPPPQIVPEVPQKTTASSTKAQPLEQDSAVDNALLLTQSKRFSEPQKLTTKKLEGSIAASGRGLS
PPQCLPRNYDAQPPGAKHGLARTPLEGHRKGHEFEGTHHPLGTKEGVDAEQRMQPKIPSQPPPVPAKKSRERLANGLHPVPMGPSGALPS
PDAPCLPVKRGSPASPTSPSDCPPALAPRPLSGQAPGSPPSTRPPPWLSELPENTSLQEHGVKLGPALTRKVSCARGVDLETLTENKLHA
EGIDLTEEPYSDKHGRCGIPEALVQRYAEDLDQPERDVAANMDQIRVKQLRKQHRMAIPSGGLTEICRKPVSPGCISSVSDWLISIGLPM

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

>54313_54313_2_MLLT4-SASH1_MLLT4_chr6_168281197_ENST00000344191_SASH1_chr6_148711270_ENST00000367469_length(amino acids)=376AA_BP=299
MSAGGRDEERRKLADIIHHWNANRLDLFEISQPTEDLEFHGVMRFYFQDKAAGNFATKCIRVSSTATTQDVIETLAEKFRPDMRMLSSPK
YSLYEVHVSGERRLDIDEKPLVVQLNWNKDDREGRFVLKNENDAIPPKKAQSNGPEKQEKEGVIQNFKRTLSKKEKKEKKKREKEALRQA
SDKDDRPFQGEDVENSRLAAEVYKDMPETSFTRTISNPEVVMKRRRQQKLEKRMQEFRSSDGRPDSGGTLRIYADSLKPNIPYKTILLST
TDPADFAVAEALEKYGLEKENPKDYCIARDGSLGNIDDLAQQYADYYNTCFSDVCERMEELRKRRVSQDLEVEKPDASPTSLQLRSQIEE

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

>54313_54313_3_MLLT4-SASH1_MLLT4_chr6_168281197_ENST00000351017_SASH1_chr6_148711270_ENST00000367467_length(amino acids)=1494AA_BP=299
MSAGGRDEERRKLADIIHHWNANRLDLFEISQPTEDLEFHGVMRFYFQDKAAGNFATKCIRVSSTATTQDVIETLAEKFRPDMRMLSSPK
YSLYEVHVSGERRLDIDEKPLVVQLNWNKDDREGRFVLKNENDAIPPKKAQSNGPEKQEKEGVIQNFKRTLSKKEKKEKKKREKEALRQA
SDKDDRPFQGEDVENSRLAAEVYKDMPETSFTRTISNPEVVMKRRRQQKLEKRMQEFRSSDGRPDSGGTLRIYADSLKPNIPYKTILLST
TDPADFAVAEALEKYGLEKENPKDYCIARDGSLGNIDDLAQQYADYYNTCFSDVCERMEELRKRRVSQDLEVEKPDASPTSLQLRSQIEE
SLGFCSAVSTPEVERKNPLHKSNSEDSSVGKGDWKKKNKYFWQNFRKNQKGIMRQTSKGEDVGYVASEITMSDEERIQLMMMVKEKMITI
EEALARLKEYEAQHRQSAALDPADWPDGSYPTFDGSSNCNSREQSDDETEESVKFKRLHKLVNSTRRVRKKLIRVEEMKKPSTEGGEEHV
FENSPVLDERSALYSGVHKKPLFFDGSPEKPPEDDSDSLTTSPSSSSLDTWGAGRKLVKTFSKGESRGLIKPPKKMGTFFSYPEEEKAQK
VSRSLTEGEMKKGLGSLSHGRTCSFGGFDLTNRSLHVGSNNSDPMGKEGDFVYKEVIKSPTASRISLGKKVKSVKETMRKRMSKKYSSSV
SEQDSGLDGMPGSPPPSQPDPEHLDKPKLKAGGSVESLRSSLSGQSSMSGQTVSTTDSSTSNRESVKSEDGDDEEPPYRGPFCGRARVHT
DFTPSPYDTDSLKLKKGDIIDIISKPPMGTWMGLLNNKVGTFKFIYVDVLSEDEEKPKRPTRRRRKGRPPQPKSVEDLLDRINLKEHMPT
FLFNGYEDLDTFKLLEEEDLDELNIRDPEHRAVLLTAVELLQEYDSNSDQSGSQEKLLVDSQGLSGCSPRDSGCYESSENLENGKTRKAS
LLSAKSSTEPSLKSFSRNQLGNYPTLPLMKSGDALKQGQEEGRLGGGLAPDTSKSCDPPGVTGLNKNRRSLPVSICRSCETLEGPQTVDT
WPRSHSLDDLQVEPGAEQDVPTEVTEPPPQIVPEVPQKTTASSTKAQPLEQDSAVDNALLLTQSKRFSEPQKLTTKKLEGSIAASGRGLS
PPQCLPRNYDAQPPGAKHGLARTPLEGHRKGHEFEGTHHPLGTKEGVDAEQRMQPKIPSQPPPVPAKKSRERLANGLHPVPMGPSGALPS
PDAPCLPVKRGSPASPTSPSDCPPALAPRPLSGQAPGSPPSTRPPPWLSELPENTSLQEHGVKLGPALTRKVSCARGVDLETLTENKLHA
EGIDLTEEPYSDKHGRCGIPEALVQRYAEDLDQPERDVAANMDQIRVKQLRKQHRMAIPSGGLTEICRKPVSPGCISSVSDWLISIGLPM

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

>54313_54313_4_MLLT4-SASH1_MLLT4_chr6_168281197_ENST00000351017_SASH1_chr6_148711270_ENST00000367469_length(amino acids)=376AA_BP=299
MSAGGRDEERRKLADIIHHWNANRLDLFEISQPTEDLEFHGVMRFYFQDKAAGNFATKCIRVSSTATTQDVIETLAEKFRPDMRMLSSPK
YSLYEVHVSGERRLDIDEKPLVVQLNWNKDDREGRFVLKNENDAIPPKKAQSNGPEKQEKEGVIQNFKRTLSKKEKKEKKKREKEALRQA
SDKDDRPFQGEDVENSRLAAEVYKDMPETSFTRTISNPEVVMKRRRQQKLEKRMQEFRSSDGRPDSGGTLRIYADSLKPNIPYKTILLST
TDPADFAVAEALEKYGLEKENPKDYCIARDGSLGNIDDLAQQYADYYNTCFSDVCERMEELRKRRVSQDLEVEKPDASPTSLQLRSQIEE

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

>54313_54313_5_MLLT4-SASH1_MLLT4_chr6_168281197_ENST00000366806_SASH1_chr6_148711270_ENST00000367467_length(amino acids)=1494AA_BP=299
MSAGGRDEERRKLADIIHHWNANRLDLFEISQPTEDLEFHGVMRFYFQDKAAGNFATKCIRVSSTATTQDVIETLAEKFRPDMRMLSSPK
YSLYEVHVSGERRLDIDEKPLVVQLNWNKDDREGRFVLKNENDAIPPKKAQSNGPEKQEKEGVIQNFKRTLSKKEKKEKKKREKEALRQA
SDKDDRPFQGEDVENSRLAAEVYKDMPETSFTRTISNPEVVMKRRRQQKLEKRMQEFRSSDGRPDSGGTLRIYADSLKPNIPYKTILLST
TDPADFAVAEALEKYGLEKENPKDYCIARDGSLGNIDDLAQQYADYYNTCFSDVCERMEELRKRRVSQDLEVEKPDASPTSLQLRSQIEE
SLGFCSAVSTPEVERKNPLHKSNSEDSSVGKGDWKKKNKYFWQNFRKNQKGIMRQTSKGEDVGYVASEITMSDEERIQLMMMVKEKMITI
EEALARLKEYEAQHRQSAALDPADWPDGSYPTFDGSSNCNSREQSDDETEESVKFKRLHKLVNSTRRVRKKLIRVEEMKKPSTEGGEEHV
FENSPVLDERSALYSGVHKKPLFFDGSPEKPPEDDSDSLTTSPSSSSLDTWGAGRKLVKTFSKGESRGLIKPPKKMGTFFSYPEEEKAQK
VSRSLTEGEMKKGLGSLSHGRTCSFGGFDLTNRSLHVGSNNSDPMGKEGDFVYKEVIKSPTASRISLGKKVKSVKETMRKRMSKKYSSSV
SEQDSGLDGMPGSPPPSQPDPEHLDKPKLKAGGSVESLRSSLSGQSSMSGQTVSTTDSSTSNRESVKSEDGDDEEPPYRGPFCGRARVHT
DFTPSPYDTDSLKLKKGDIIDIISKPPMGTWMGLLNNKVGTFKFIYVDVLSEDEEKPKRPTRRRRKGRPPQPKSVEDLLDRINLKEHMPT
FLFNGYEDLDTFKLLEEEDLDELNIRDPEHRAVLLTAVELLQEYDSNSDQSGSQEKLLVDSQGLSGCSPRDSGCYESSENLENGKTRKAS
LLSAKSSTEPSLKSFSRNQLGNYPTLPLMKSGDALKQGQEEGRLGGGLAPDTSKSCDPPGVTGLNKNRRSLPVSICRSCETLEGPQTVDT
WPRSHSLDDLQVEPGAEQDVPTEVTEPPPQIVPEVPQKTTASSTKAQPLEQDSAVDNALLLTQSKRFSEPQKLTTKKLEGSIAASGRGLS
PPQCLPRNYDAQPPGAKHGLARTPLEGHRKGHEFEGTHHPLGTKEGVDAEQRMQPKIPSQPPPVPAKKSRERLANGLHPVPMGPSGALPS
PDAPCLPVKRGSPASPTSPSDCPPALAPRPLSGQAPGSPPSTRPPPWLSELPENTSLQEHGVKLGPALTRKVSCARGVDLETLTENKLHA
EGIDLTEEPYSDKHGRCGIPEALVQRYAEDLDQPERDVAANMDQIRVKQLRKQHRMAIPSGGLTEICRKPVSPGCISSVSDWLISIGLPM

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

>54313_54313_6_MLLT4-SASH1_MLLT4_chr6_168281197_ENST00000366806_SASH1_chr6_148711270_ENST00000367469_length(amino acids)=376AA_BP=299
MSAGGRDEERRKLADIIHHWNANRLDLFEISQPTEDLEFHGVMRFYFQDKAAGNFATKCIRVSSTATTQDVIETLAEKFRPDMRMLSSPK
YSLYEVHVSGERRLDIDEKPLVVQLNWNKDDREGRFVLKNENDAIPPKKAQSNGPEKQEKEGVIQNFKRTLSKKEKKEKKKREKEALRQA
SDKDDRPFQGEDVENSRLAAEVYKDMPETSFTRTISNPEVVMKRRRQQKLEKRMQEFRSSDGRPDSGGTLRIYADSLKPNIPYKTILLST
TDPADFAVAEALEKYGLEKENPKDYCIARDGSLGNIDDLAQQYADYYNTCFSDVCERMEELRKRRVSQDLEVEKPDASPTSLQLRSQIEE

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

>54313_54313_7_MLLT4-SASH1_MLLT4_chr6_168281197_ENST00000392108_SASH1_chr6_148711270_ENST00000367467_length(amino acids)=1494AA_BP=299
MSAGGRDEERRKLADIIHHWNANRLDLFEISQPTEDLEFHGVMRFYFQDKAAGNFATKCIRVSSTATTQDVIETLAEKFRPDMRMLSSPK
YSLYEVHVSGERRLDIDEKPLVVQLNWNKDDREGRFVLKNENDAIPPKKAQSNGPEKQEKEGVIQNFKRTLSKKEKKEKKKREKEALRQA
SDKDDRPFQGEDVENSRLAAEVYKDMPETSFTRTISNPEVVMKRRRQQKLEKRMQEFRSSDGRPDSGGTLRIYADSLKPNIPYKTILLST
TDPADFAVAEALEKYGLEKENPKDYCIARDGSLGNIDDLAQQYADYYNTCFSDVCERMEELRKRRVSQDLEVEKPDASPTSLQLRSQIEE
SLGFCSAVSTPEVERKNPLHKSNSEDSSVGKGDWKKKNKYFWQNFRKNQKGIMRQTSKGEDVGYVASEITMSDEERIQLMMMVKEKMITI
EEALARLKEYEAQHRQSAALDPADWPDGSYPTFDGSSNCNSREQSDDETEESVKFKRLHKLVNSTRRVRKKLIRVEEMKKPSTEGGEEHV
FENSPVLDERSALYSGVHKKPLFFDGSPEKPPEDDSDSLTTSPSSSSLDTWGAGRKLVKTFSKGESRGLIKPPKKMGTFFSYPEEEKAQK
VSRSLTEGEMKKGLGSLSHGRTCSFGGFDLTNRSLHVGSNNSDPMGKEGDFVYKEVIKSPTASRISLGKKVKSVKETMRKRMSKKYSSSV
SEQDSGLDGMPGSPPPSQPDPEHLDKPKLKAGGSVESLRSSLSGQSSMSGQTVSTTDSSTSNRESVKSEDGDDEEPPYRGPFCGRARVHT
DFTPSPYDTDSLKLKKGDIIDIISKPPMGTWMGLLNNKVGTFKFIYVDVLSEDEEKPKRPTRRRRKGRPPQPKSVEDLLDRINLKEHMPT
FLFNGYEDLDTFKLLEEEDLDELNIRDPEHRAVLLTAVELLQEYDSNSDQSGSQEKLLVDSQGLSGCSPRDSGCYESSENLENGKTRKAS
LLSAKSSTEPSLKSFSRNQLGNYPTLPLMKSGDALKQGQEEGRLGGGLAPDTSKSCDPPGVTGLNKNRRSLPVSICRSCETLEGPQTVDT
WPRSHSLDDLQVEPGAEQDVPTEVTEPPPQIVPEVPQKTTASSTKAQPLEQDSAVDNALLLTQSKRFSEPQKLTTKKLEGSIAASGRGLS
PPQCLPRNYDAQPPGAKHGLARTPLEGHRKGHEFEGTHHPLGTKEGVDAEQRMQPKIPSQPPPVPAKKSRERLANGLHPVPMGPSGALPS
PDAPCLPVKRGSPASPTSPSDCPPALAPRPLSGQAPGSPPSTRPPPWLSELPENTSLQEHGVKLGPALTRKVSCARGVDLETLTENKLHA
EGIDLTEEPYSDKHGRCGIPEALVQRYAEDLDQPERDVAANMDQIRVKQLRKQHRMAIPSGGLTEICRKPVSPGCISSVSDWLISIGLPM

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

>54313_54313_8_MLLT4-SASH1_MLLT4_chr6_168281197_ENST00000392108_SASH1_chr6_148711270_ENST00000367469_length(amino acids)=376AA_BP=299
MSAGGRDEERRKLADIIHHWNANRLDLFEISQPTEDLEFHGVMRFYFQDKAAGNFATKCIRVSSTATTQDVIETLAEKFRPDMRMLSSPK
YSLYEVHVSGERRLDIDEKPLVVQLNWNKDDREGRFVLKNENDAIPPKKAQSNGPEKQEKEGVIQNFKRTLSKKEKKEKKKREKEALRQA
SDKDDRPFQGEDVENSRLAAEVYKDMPETSFTRTISNPEVVMKRRRQQKLEKRMQEFRSSDGRPDSGGTLRIYADSLKPNIPYKTILLST
TDPADFAVAEALEKYGLEKENPKDYCIARDGSLGNIDDLAQQYADYYNTCFSDVCERMEELRKRRVSQDLEVEKPDASPTSLQLRSQIEE

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

>54313_54313_9_MLLT4-SASH1_MLLT4_chr6_168281197_ENST00000392112_SASH1_chr6_148711270_ENST00000367467_length(amino acids)=1493AA_BP=298
MSAGGRDEERRKLADIIHHWNANRLDLFEISQPTEDLEFHGVMRFYFQDKAAGNFATKCIRVSSTATTQDVIETLAEKFRPDMRMLSSPK
YSLYEVHVSGERRLDIDEKPLVVQLNWNKDDREGRFVLKNENDAIPPKAQSNGPEKQEKEGVIQNFKRTLSKKEKKEKKKREKEALRQAS
DKDDRPFQGEDVENSRLAAEVYKDMPETSFTRTISNPEVVMKRRRQQKLEKRMQEFRSSDGRPDSGGTLRIYADSLKPNIPYKTILLSTT
DPADFAVAEALEKYGLEKENPKDYCIARDGSLGNIDDLAQQYADYYNTCFSDVCERMEELRKRRVSQDLEVEKPDASPTSLQLRSQIEES
LGFCSAVSTPEVERKNPLHKSNSEDSSVGKGDWKKKNKYFWQNFRKNQKGIMRQTSKGEDVGYVASEITMSDEERIQLMMMVKEKMITIE
EALARLKEYEAQHRQSAALDPADWPDGSYPTFDGSSNCNSREQSDDETEESVKFKRLHKLVNSTRRVRKKLIRVEEMKKPSTEGGEEHVF
ENSPVLDERSALYSGVHKKPLFFDGSPEKPPEDDSDSLTTSPSSSSLDTWGAGRKLVKTFSKGESRGLIKPPKKMGTFFSYPEEEKAQKV
SRSLTEGEMKKGLGSLSHGRTCSFGGFDLTNRSLHVGSNNSDPMGKEGDFVYKEVIKSPTASRISLGKKVKSVKETMRKRMSKKYSSSVS
EQDSGLDGMPGSPPPSQPDPEHLDKPKLKAGGSVESLRSSLSGQSSMSGQTVSTTDSSTSNRESVKSEDGDDEEPPYRGPFCGRARVHTD
FTPSPYDTDSLKLKKGDIIDIISKPPMGTWMGLLNNKVGTFKFIYVDVLSEDEEKPKRPTRRRRKGRPPQPKSVEDLLDRINLKEHMPTF
LFNGYEDLDTFKLLEEEDLDELNIRDPEHRAVLLTAVELLQEYDSNSDQSGSQEKLLVDSQGLSGCSPRDSGCYESSENLENGKTRKASL
LSAKSSTEPSLKSFSRNQLGNYPTLPLMKSGDALKQGQEEGRLGGGLAPDTSKSCDPPGVTGLNKNRRSLPVSICRSCETLEGPQTVDTW
PRSHSLDDLQVEPGAEQDVPTEVTEPPPQIVPEVPQKTTASSTKAQPLEQDSAVDNALLLTQSKRFSEPQKLTTKKLEGSIAASGRGLSP
PQCLPRNYDAQPPGAKHGLARTPLEGHRKGHEFEGTHHPLGTKEGVDAEQRMQPKIPSQPPPVPAKKSRERLANGLHPVPMGPSGALPSP
DAPCLPVKRGSPASPTSPSDCPPALAPRPLSGQAPGSPPSTRPPPWLSELPENTSLQEHGVKLGPALTRKVSCARGVDLETLTENKLHAE
GIDLTEEPYSDKHGRCGIPEALVQRYAEDLDQPERDVAANMDQIRVKQLRKQHRMAIPSGGLTEICRKPVSPGCISSVSDWLISIGLPMY

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

>54313_54313_10_MLLT4-SASH1_MLLT4_chr6_168281197_ENST00000392112_SASH1_chr6_148711270_ENST00000367469_length(amino acids)=375AA_BP=298
MSAGGRDEERRKLADIIHHWNANRLDLFEISQPTEDLEFHGVMRFYFQDKAAGNFATKCIRVSSTATTQDVIETLAEKFRPDMRMLSSPK
YSLYEVHVSGERRLDIDEKPLVVQLNWNKDDREGRFVLKNENDAIPPKAQSNGPEKQEKEGVIQNFKRTLSKKEKKEKKKREKEALRQAS
DKDDRPFQGEDVENSRLAAEVYKDMPETSFTRTISNPEVVMKRRRQQKLEKRMQEFRSSDGRPDSGGTLRIYADSLKPNIPYKTILLSTT
DPADFAVAEALEKYGLEKENPKDYCIARDGSLGNIDDLAQQYADYYNTCFSDVCERMEELRKRRVSQDLEVEKPDASPTSLQLRSQIEES

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

>54313_54313_11_MLLT4-SASH1_MLLT4_chr6_168281197_ENST00000400822_SASH1_chr6_148711270_ENST00000367467_length(amino acids)=1493AA_BP=298
MSAGGRDEERRKLADIIHHWNANRLDLFEISQPTEDLEFHGVMRFYFQDKAAGNFATKCIRVSSTATTQDVIETLAEKFRPDMRMLSSPK
YSLYEVHVSGERRLDIDEKPLVVQLNWNKDDREGRFVLKNENDAIPPKAQSNGPEKQEKEGVIQNFKRTLSKKEKKEKKKREKEALRQAS
DKDDRPFQGEDVENSRLAAEVYKDMPETSFTRTISNPEVVMKRRRQQKLEKRMQEFRSSDGRPDSGGTLRIYADSLKPNIPYKTILLSTT
DPADFAVAEALEKYGLEKENPKDYCIARDGSLGNIDDLAQQYADYYNTCFSDVCERMEELRKRRVSQDLEVEKPDASPTSLQLRSQIEES
LGFCSAVSTPEVERKNPLHKSNSEDSSVGKGDWKKKNKYFWQNFRKNQKGIMRQTSKGEDVGYVASEITMSDEERIQLMMMVKEKMITIE
EALARLKEYEAQHRQSAALDPADWPDGSYPTFDGSSNCNSREQSDDETEESVKFKRLHKLVNSTRRVRKKLIRVEEMKKPSTEGGEEHVF
ENSPVLDERSALYSGVHKKPLFFDGSPEKPPEDDSDSLTTSPSSSSLDTWGAGRKLVKTFSKGESRGLIKPPKKMGTFFSYPEEEKAQKV
SRSLTEGEMKKGLGSLSHGRTCSFGGFDLTNRSLHVGSNNSDPMGKEGDFVYKEVIKSPTASRISLGKKVKSVKETMRKRMSKKYSSSVS
EQDSGLDGMPGSPPPSQPDPEHLDKPKLKAGGSVESLRSSLSGQSSMSGQTVSTTDSSTSNRESVKSEDGDDEEPPYRGPFCGRARVHTD
FTPSPYDTDSLKLKKGDIIDIISKPPMGTWMGLLNNKVGTFKFIYVDVLSEDEEKPKRPTRRRRKGRPPQPKSVEDLLDRINLKEHMPTF
LFNGYEDLDTFKLLEEEDLDELNIRDPEHRAVLLTAVELLQEYDSNSDQSGSQEKLLVDSQGLSGCSPRDSGCYESSENLENGKTRKASL
LSAKSSTEPSLKSFSRNQLGNYPTLPLMKSGDALKQGQEEGRLGGGLAPDTSKSCDPPGVTGLNKNRRSLPVSICRSCETLEGPQTVDTW
PRSHSLDDLQVEPGAEQDVPTEVTEPPPQIVPEVPQKTTASSTKAQPLEQDSAVDNALLLTQSKRFSEPQKLTTKKLEGSIAASGRGLSP
PQCLPRNYDAQPPGAKHGLARTPLEGHRKGHEFEGTHHPLGTKEGVDAEQRMQPKIPSQPPPVPAKKSRERLANGLHPVPMGPSGALPSP
DAPCLPVKRGSPASPTSPSDCPPALAPRPLSGQAPGSPPSTRPPPWLSELPENTSLQEHGVKLGPALTRKVSCARGVDLETLTENKLHAE
GIDLTEEPYSDKHGRCGIPEALVQRYAEDLDQPERDVAANMDQIRVKQLRKQHRMAIPSGGLTEICRKPVSPGCISSVSDWLISIGLPMY

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

>54313_54313_12_MLLT4-SASH1_MLLT4_chr6_168281197_ENST00000400822_SASH1_chr6_148711270_ENST00000367469_length(amino acids)=375AA_BP=298
MSAGGRDEERRKLADIIHHWNANRLDLFEISQPTEDLEFHGVMRFYFQDKAAGNFATKCIRVSSTATTQDVIETLAEKFRPDMRMLSSPK
YSLYEVHVSGERRLDIDEKPLVVQLNWNKDDREGRFVLKNENDAIPPKAQSNGPEKQEKEGVIQNFKRTLSKKEKKEKKKREKEALRQAS
DKDDRPFQGEDVENSRLAAEVYKDMPETSFTRTISNPEVVMKRRRQQKLEKRMQEFRSSDGRPDSGGTLRIYADSLKPNIPYKTILLSTT
DPADFAVAEALEKYGLEKENPKDYCIARDGSLGNIDDLAQQYADYYNTCFSDVCERMEELRKRRVSQDLEVEKPDASPTSLQLRSQIEES

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

>54313_54313_13_MLLT4-SASH1_MLLT4_chr6_168281197_ENST00000447894_SASH1_chr6_148711270_ENST00000367467_length(amino acids)=1494AA_BP=299
MSAGGRDEERRKLADIIHHWNANRLDLFEISQPTEDLEFHGVMRFYFQDKAAGNFATKCIRVSSTATTQDVIETLAEKFRPDMRMLSSPK
YSLYEVHVSGERRLDIDEKPLVVQLNWNKDDREGRFVLKNENDAIPPKKAQSNGPEKQEKEGVIQNFKRTLSKKEKKEKKKREKEALRQA
SDKDDRPFQGEDVENSRLAAEVYKDMPETSFTRTISNPEVVMKRRRQQKLEKRMQEFRSSDGRPDSGGTLRIYADSLKPNIPYKTILLST
TDPADFAVAEALEKYGLEKENPKDYCIARDGSLGNIDDLAQQYADYYNTCFSDVCERMEELRKRRVSQDLEVEKPDASPTSLQLRSQIEE
SLGFCSAVSTPEVERKNPLHKSNSEDSSVGKGDWKKKNKYFWQNFRKNQKGIMRQTSKGEDVGYVASEITMSDEERIQLMMMVKEKMITI
EEALARLKEYEAQHRQSAALDPADWPDGSYPTFDGSSNCNSREQSDDETEESVKFKRLHKLVNSTRRVRKKLIRVEEMKKPSTEGGEEHV
FENSPVLDERSALYSGVHKKPLFFDGSPEKPPEDDSDSLTTSPSSSSLDTWGAGRKLVKTFSKGESRGLIKPPKKMGTFFSYPEEEKAQK
VSRSLTEGEMKKGLGSLSHGRTCSFGGFDLTNRSLHVGSNNSDPMGKEGDFVYKEVIKSPTASRISLGKKVKSVKETMRKRMSKKYSSSV
SEQDSGLDGMPGSPPPSQPDPEHLDKPKLKAGGSVESLRSSLSGQSSMSGQTVSTTDSSTSNRESVKSEDGDDEEPPYRGPFCGRARVHT
DFTPSPYDTDSLKLKKGDIIDIISKPPMGTWMGLLNNKVGTFKFIYVDVLSEDEEKPKRPTRRRRKGRPPQPKSVEDLLDRINLKEHMPT
FLFNGYEDLDTFKLLEEEDLDELNIRDPEHRAVLLTAVELLQEYDSNSDQSGSQEKLLVDSQGLSGCSPRDSGCYESSENLENGKTRKAS
LLSAKSSTEPSLKSFSRNQLGNYPTLPLMKSGDALKQGQEEGRLGGGLAPDTSKSCDPPGVTGLNKNRRSLPVSICRSCETLEGPQTVDT
WPRSHSLDDLQVEPGAEQDVPTEVTEPPPQIVPEVPQKTTASSTKAQPLEQDSAVDNALLLTQSKRFSEPQKLTTKKLEGSIAASGRGLS
PPQCLPRNYDAQPPGAKHGLARTPLEGHRKGHEFEGTHHPLGTKEGVDAEQRMQPKIPSQPPPVPAKKSRERLANGLHPVPMGPSGALPS
PDAPCLPVKRGSPASPTSPSDCPPALAPRPLSGQAPGSPPSTRPPPWLSELPENTSLQEHGVKLGPALTRKVSCARGVDLETLTENKLHA
EGIDLTEEPYSDKHGRCGIPEALVQRYAEDLDQPERDVAANMDQIRVKQLRKQHRMAIPSGGLTEICRKPVSPGCISSVSDWLISIGLPM

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

>54313_54313_14_MLLT4-SASH1_MLLT4_chr6_168281197_ENST00000447894_SASH1_chr6_148711270_ENST00000367469_length(amino acids)=376AA_BP=299
MSAGGRDEERRKLADIIHHWNANRLDLFEISQPTEDLEFHGVMRFYFQDKAAGNFATKCIRVSSTATTQDVIETLAEKFRPDMRMLSSPK
YSLYEVHVSGERRLDIDEKPLVVQLNWNKDDREGRFVLKNENDAIPPKKAQSNGPEKQEKEGVIQNFKRTLSKKEKKEKKKREKEALRQA
SDKDDRPFQGEDVENSRLAAEVYKDMPETSFTRTISNPEVVMKRRRQQKLEKRMQEFRSSDGRPDSGGTLRIYADSLKPNIPYKTILLST
TDPADFAVAEALEKYGLEKENPKDYCIARDGSLGNIDDLAQQYADYYNTCFSDVCERMEELRKRRVSQDLEVEKPDASPTSLQLRSQIEE

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

Top

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: 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: 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}.

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

MLLT4

chr6:168281197

chr6:148711270

ENST00000392108

146_185

299.0

1652.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000400822

146_185

298.0

1835.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000447894

146_185

299.0

1825.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000392108

163_175

299.0

1652.0

Compositional bias

Note=Glu/Lys-rich

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000400822

163_175

298.0

1835.0

Compositional bias

Note=Glu/Lys-rich

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000447894

163_175

299.0

1825.0

Compositional bias

Note=Glu/Lys-rich

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000392108

39_133

299.0

1652.0

Domain

Ras-associating 1

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000400822

39_133

298.0

1835.0

Domain

Ras-associating 1

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000447894

39_133

299.0

1825.0

Domain

Ras-associating 1

Tgene

SASH1

chr6:168281197

chr6:148711270

ENST00000367467

978_1059

52.0

1248.0

Compositional bias

Note=Pro-rich

Tgene

SASH1

chr6:168281197

chr6:148711270

ENST00000367467

1177_1241

52.0

1248.0

Domain

SAM 2

Tgene

SASH1

chr6:168281197

chr6:148711270

ENST00000367467

554_615

52.0

1248.0

Domain

SH3

Tgene

SASH1

chr6:168281197

chr6:148711270

ENST00000367467

633_697

52.0

1248.0

Domain

SAM 1

- 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

MLLT4

chr6:168281197

chr6:148711270

ENST00000392108

1408_1448

299.0

1652.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000392108

1523_1667

299.0

1652.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000400822

1408_1448

298.0

1835.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000400822

1523_1667

298.0

1835.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000447894

1408_1448

299.0

1825.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000447894

1523_1667

299.0

1825.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000392108

1346_1392

299.0

1652.0

Compositional bias

Note=Pro-rich

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000392108

1578_1588

299.0

1652.0

Compositional bias

Note=Asp/Glu-rich (acidic)

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000392108

1678_1708

299.0

1652.0

Compositional bias

Note=Pro-rich

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000400822

1346_1392

298.0

1835.0

Compositional bias

Note=Pro-rich

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000400822

1578_1588

298.0

1835.0

Compositional bias

Note=Asp/Glu-rich (acidic)

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000400822

1678_1708

298.0

1835.0

Compositional bias

Note=Pro-rich

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000447894

1346_1392

299.0

1825.0

Compositional bias

Note=Pro-rich

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000447894

1578_1588

299.0

1825.0

Compositional bias

Note=Asp/Glu-rich (acidic)

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000447894

1678_1708

299.0

1825.0

Compositional bias

Note=Pro-rich

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000392108

1007_1093

299.0

1652.0

Domain

PDZ

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000392108

246_348

299.0

1652.0

Domain

Ras-associating 2

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000392108

426_492

299.0

1652.0

Domain

Note=FHA

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000392108

668_908

299.0

1652.0

Domain

Dilute

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000400822

1007_1093

298.0

1835.0

Domain

PDZ

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000400822

246_348

298.0

1835.0

Domain

Ras-associating 2

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000400822

426_492

298.0

1835.0

Domain

Note=FHA

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000400822

668_908

298.0

1835.0

Domain

Dilute

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000447894

1007_1093

299.0

1825.0

Domain

PDZ

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000447894

246_348

299.0

1825.0

Domain

Ras-associating 2

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000447894

426_492

299.0

1825.0

Domain

Note=FHA

Hgene

MLLT4

chr6:168281197

chr6:148711270

ENST00000447894

668_908

299.0

1825.0

Domain

Dilute

Tgene

SASH1

chr6:168281197

chr6:148711270

ENST00000367467

9_33

52.0

1248.0

Compositional bias

Note=Pro-rich

Top

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 >>>2070_MLLT4_168281197_SASH1_148711270_ranked_0.pdb	MLLT4	168281197	168281197	ENST00000367467	SASH1	chr6	148711270	+	MSAGGRDEERRKLADIIHHWNANRLDLFEISQPTEDLEFHGVMRFYFQDKAAGNFATKCIRVSSTATTQDVIETLAEKFRPDMRMLSSPK YSLYEVHVSGERRLDIDEKPLVVQLNWNKDDREGRFVLKNENDAIPPKKAQSNGPEKQEKEGVIQNFKRTLSKKEKKEKKKREKEALRQA SDKDDRPFQGEDVENSRLAAEVYKDMPETSFTRTISNPEVVMKRRRQQKLEKRMQEFRSSDGRPDSGGTLRIYADSLKPNIPYKTILLST TDPADFAVAEALEKYGLEKENPKDYCIARDGSLGNIDDLAQQYADYYNTCFSDVCERMEELRKRRVSQDLEVEKPDASPTSLQLRSQIEE SLGFCSAVSTPEVERKNPLHKSNSEDSSVGKGDWKKKNKYFWQNFRKNQKGIMRQTSKGEDVGYVASEITMSDEERIQLMMMVKEKMITI EEALARLKEYEAQHRQSAALDPADWPDGSYPTFDGSSNCNSREQSDDETEESVKFKRLHKLVNSTRRVRKKLIRVEEMKKPSTEGGEEHV FENSPVLDERSALYSGVHKKPLFFDGSPEKPPEDDSDSLTTSPSSSSLDTWGAGRKLVKTFSKGESRGLIKPPKKMGTFFSYPEEEKAQK VSRSLTEGEMKKGLGSLSHGRTCSFGGFDLTNRSLHVGSNNSDPMGKEGDFVYKEVIKSPTASRISLGKKVKSVKETMRKRMSKKYSSSV SEQDSGLDGMPGSPPPSQPDPEHLDKPKLKAGGSVESLRSSLSGQSSMSGQTVSTTDSSTSNRESVKSEDGDDEEPPYRGPFCGRARVHT DFTPSPYDTDSLKLKKGDIIDIISKPPMGTWMGLLNNKVGTFKFIYVDVLSEDEEKPKRPTRRRRKGRPPQPKSVEDLLDRINLKEHMPT FLFNGYEDLDTFKLLEEEDLDELNIRDPEHRAVLLTAVELLQEYDSNSDQSGSQEKLLVDSQGLSGCSPRDSGCYESSENLENGKTRKAS LLSAKSSTEPSLKSFSRNQLGNYPTLPLMKSGDALKQGQEEGRLGGGLAPDTSKSCDPPGVTGLNKNRRSLPVSICRSCETLEGPQTVDT WPRSHSLDDLQVEPGAEQDVPTEVTEPPPQIVPEVPQKTTASSTKAQPLEQDSAVDNALLLTQSKRFSEPQKLTTKKLEGSIAASGRGLS PPQCLPRNYDAQPPGAKHGLARTPLEGHRKGHEFEGTHHPLGTKEGVDAEQRMQPKIPSQPPPVPAKKSRERLANGLHPVPMGPSGALPS PDAPCLPVKRGSPASPTSPSDCPPALAPRPLSGQAPGSPPSTRPPPWLSELPENTSLQEHGVKLGPALTRKVSCARGVDLETLTENKLHA EGIDLTEEPYSDKHGRCGIPEALVQRYAEDLDQPERDVAANMDQIRVKQLRKQHRMAIPSGGLTEICRKPVSPGCISSVSDWLISIGLPM	1494

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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
MLLT4
SASH1

- 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 MLLT4-SASH1

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 MLLT4-SASH1

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