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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:ARID1B-SASH1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: ARID1B-SASH1
	FusionPDB ID: 6418
	FusionGDB2.0 ID: 6418
		Hgene	Tgene
	Gene symbol	ARID1B	SASH1
	Gene ID	57492	23328
	Gene name	AT-rich interaction domain 1B	SAM and SH3 domain containing 1
	Synonyms	6A3-5\|BAF250B\|BRIGHT\|CSS1\|DAN15\|ELD/OSA1\|MRD12\|OSA2\|P250R	CAPOK\|DUH1\|SH3D6A\|dJ323M4.1
	Cytomap	6q25.3	6q24.3-q25.1
	Type of gene	protein-coding	protein-coding
	Description	AT-rich interactive domain-containing protein 1BARID domain-containing protein 1BAT rich interactive domain 1B (SWI1-like)BRG1-associated factor 250bBRG1-binding protein ELD/OSA1ELD (eyelid)/OSA protein	SAM and SH3 domain-containing protein 1proline-glutamate repeat-containing protein
	Modification date	20200320	20200313
	UniProtAcc	Q8NFD5	O94885
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000275248, ENST00000346085, ENST00000350026, ENST00000367148, ENST00000478761,	ENST00000470750, ENST00000367467, ENST00000367469,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	27 X 18 X 14=6804	10 X 8 X 7=560
	# samples	31	12
	** MAII score	log2(31/6804*10)=-4.45604302038915 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: ARID1B [Title/Abstract] AND SASH1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	SASH1(148711398)-ARID1B(157256600), # samples:3 ARID1B(157150555)-SASH1(148711270), # samples:2
Anticipated loss of major functional domain due to fusion event.	ARID1B-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. ARID1B-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. ARID1B-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. ARID1B-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-ARID1B 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-ARID1B 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 ARID1B (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	SKCM	TCGA-ER-A197-06A	ARID1B	chr6	157150555	-	SASH1	chr6	148711270	+
ChimerDB4	SKCM	TCGA-ER-A197-06A	ARID1B	chr6	157150555	+	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)
ENST00000350026	ARID1B	chr6	157150555	+	ENST00000367469	SASH1	chr6	148711270	+	2255	1738	1	1971	656
ENST00000350026	ARID1B	chr6	157150555	+	ENST00000367467	SASH1	chr6	148711270	+	8818	1738	1	5325	1774
ENST00000346085	ARID1B	chr6	157150555	+	ENST00000367469	SASH1	chr6	148711270	+	2255	1738	1	1971	656
ENST00000346085	ARID1B	chr6	157150555	+	ENST00000367467	SASH1	chr6	148711270	+	8818	1738	1	5325	1774
ENST00000367148	ARID1B	chr6	157150555	+	ENST00000367469	SASH1	chr6	148711270	+	2254	1737	0	1970	656
ENST00000367148	ARID1B	chr6	157150555	+	ENST00000367467	SASH1	chr6	148711270	+	8817	1737	0	5324	1774
ENST00000275248	ARID1B	chr6	157150555	+	ENST00000367469	SASH1	chr6	148711270	+	2232	1715	77	1948	623
ENST00000275248	ARID1B	chr6	157150555	+	ENST00000367467	SASH1	chr6	148711270	+	8795	1715	77	5302	1741

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
ENST00000350026	ENST00000367469	ARID1B	chr6	157150555	+	SASH1	chr6	148711270	+	0.013783005	0.986217
ENST00000350026	ENST00000367467	ARID1B	chr6	157150555	+	SASH1	chr6	148711270	+	0.000984937	0.9990151
ENST00000346085	ENST00000367469	ARID1B	chr6	157150555	+	SASH1	chr6	148711270	+	0.013783005	0.986217
ENST00000346085	ENST00000367467	ARID1B	chr6	157150555	+	SASH1	chr6	148711270	+	0.000984937	0.9990151
ENST00000367148	ENST00000367469	ARID1B	chr6	157150555	+	SASH1	chr6	148711270	+	0.013964242	0.9860357
ENST00000367148	ENST00000367467	ARID1B	chr6	157150555	+	SASH1	chr6	148711270	+	0.00098161	0.99901843
ENST00000275248	ENST00000367469	ARID1B	chr6	157150555	+	SASH1	chr6	148711270	+	0.011770574	0.9882294
ENST00000275248	ENST00000367467	ARID1B	chr6	157150555	+	SASH1	chr6	148711270	+	0.001142823	0.99885714

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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

>6418_6418_1_ARID1B-SASH1_ARID1B_chr6_157150555_ENST00000275248_SASH1_chr6_148711270_ENST00000367467_length(amino acids)=1741AA_BP=545
MSSSSSSSAAAAAASSSSSSGPGSAMETGLLPNHKLKTVGEAPAAPPHQQHHHHHHAHHHHHHAHHLHHHHALQQQLNQFQQQQQQQQQQ
QQQQQQQQHPISNNNSLGGAGGGAPQPGPDMEQPQHGGAKDSAAGGQADPPGPPLLSKPGDEDDAPPKMGEPAGGRYEHPGLGALGTQQP
PVAVPGGGGGPAAVPEFNNYYGSAAPASGGPGGRAGPCFDQHGGQQSPGMGMMHSASAAAAGAPGSMDPLQNSHEGYPNSQCNHYPGYSR
PGAGGGGGGGGGGGGGSGGGGGGGGAGAGGAGAGAVAAAAAAAAAAAGGGGGGGYGGSSAGYGVLSSPRQQGGGMMMGPGGGGAASLSKA
AAGSAAGGFQRFAGQNQHPSGATPTLNQLLTSPSPMMRSYGGSYPEYSSPSAPPPPPSQPQSQAAAAGAAAGGQQAAAGMGLGKDMGAQY
AAASPAWAAAQQRSHPAMSPGTPGPTMGRSQGSPMDPMVMKRPQLYGMGSNPHSQPQQSSPYPGGSYGPPGPQRYPIGIQGRTPGAMAGM
QYPQQQDGSLGNIDDLAQQYADYYNTCFSDVCERMEELRKRRVSQDLEVEKPDASPTSLQLRSQIEESLGFCSAVSTPEVERKNPLHKSN
SEDSSVGKGDWKKKNKYFWQNFRKNQKGIMRQTSKGEDVGYVASEITMSDEERIQLMMMVKEKMITIEEALARLKEYEAQHRQSAALDPA
DWPDGSYPTFDGSSNCNSREQSDDETEESVKFKRLHKLVNSTRRVRKKLIRVEEMKKPSTEGGEEHVFENSPVLDERSALYSGVHKKPLF
FDGSPEKPPEDDSDSLTTSPSSSSLDTWGAGRKLVKTFSKGESRGLIKPPKKMGTFFSYPEEEKAQKVSRSLTEGEMKKGLGSLSHGRTC
SFGGFDLTNRSLHVGSNNSDPMGKEGDFVYKEVIKSPTASRISLGKKVKSVKETMRKRMSKKYSSSVSEQDSGLDGMPGSPPPSQPDPEH
LDKPKLKAGGSVESLRSSLSGQSSMSGQTVSTTDSSTSNRESVKSEDGDDEEPPYRGPFCGRARVHTDFTPSPYDTDSLKLKKGDIIDII
SKPPMGTWMGLLNNKVGTFKFIYVDVLSEDEEKPKRPTRRRRKGRPPQPKSVEDLLDRINLKEHMPTFLFNGYEDLDTFKLLEEEDLDEL
NIRDPEHRAVLLTAVELLQEYDSNSDQSGSQEKLLVDSQGLSGCSPRDSGCYESSENLENGKTRKASLLSAKSSTEPSLKSFSRNQLGNY
PTLPLMKSGDALKQGQEEGRLGGGLAPDTSKSCDPPGVTGLNKNRRSLPVSICRSCETLEGPQTVDTWPRSHSLDDLQVEPGAEQDVPTE
VTEPPPQIVPEVPQKTTASSTKAQPLEQDSAVDNALLLTQSKRFSEPQKLTTKKLEGSIAASGRGLSPPQCLPRNYDAQPPGAKHGLART
PLEGHRKGHEFEGTHHPLGTKEGVDAEQRMQPKIPSQPPPVPAKKSRERLANGLHPVPMGPSGALPSPDAPCLPVKRGSPASPTSPSDCP
PALAPRPLSGQAPGSPPSTRPPPWLSELPENTSLQEHGVKLGPALTRKVSCARGVDLETLTENKLHAEGIDLTEEPYSDKHGRCGIPEAL
VQRYAEDLDQPERDVAANMDQIRVKQLRKQHRMAIPSGGLTEICRKPVSPGCISSVSDWLISIGLPMYAGTLSTAGFSTLSQVPSLSHTC

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

>6418_6418_2_ARID1B-SASH1_ARID1B_chr6_157150555_ENST00000275248_SASH1_chr6_148711270_ENST00000367469_length(amino acids)=623AA_BP=545
MSSSSSSSAAAAAASSSSSSGPGSAMETGLLPNHKLKTVGEAPAAPPHQQHHHHHHAHHHHHHAHHLHHHHALQQQLNQFQQQQQQQQQQ
QQQQQQQQHPISNNNSLGGAGGGAPQPGPDMEQPQHGGAKDSAAGGQADPPGPPLLSKPGDEDDAPPKMGEPAGGRYEHPGLGALGTQQP
PVAVPGGGGGPAAVPEFNNYYGSAAPASGGPGGRAGPCFDQHGGQQSPGMGMMHSASAAAAGAPGSMDPLQNSHEGYPNSQCNHYPGYSR
PGAGGGGGGGGGGGGGSGGGGGGGGAGAGGAGAGAVAAAAAAAAAAAGGGGGGGYGGSSAGYGVLSSPRQQGGGMMMGPGGGGAASLSKA
AAGSAAGGFQRFAGQNQHPSGATPTLNQLLTSPSPMMRSYGGSYPEYSSPSAPPPPPSQPQSQAAAAGAAAGGQQAAAGMGLGKDMGAQY
AAASPAWAAAQQRSHPAMSPGTPGPTMGRSQGSPMDPMVMKRPQLYGMGSNPHSQPQQSSPYPGGSYGPPGPQRYPIGIQGRTPGAMAGM

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

>6418_6418_3_ARID1B-SASH1_ARID1B_chr6_157150555_ENST00000346085_SASH1_chr6_148711270_ENST00000367467_length(amino acids)=1774AA_BP=578
MAHNAGAAAAAGTHSAKSGGSEAALKEGGSAAALSSSSSSSAAAAAASSSSSSGPGSAMETGLLPNHKLKTVGEAPAAPPHQQHHHHHHA
HHHHHHAHHLHHHHALQQQLNQFQQQQQQQQQQQQQQQQQQHPISNNNSLGGAGGGAPQPGPDMEQPQHGGAKDSAAGGQADPPGPPLLS
KPGDEDDAPPKMGEPAGGRYEHPGLGALGTQQPPVAVPGGGGGPAAVPEFNNYYGSAAPASGGPGGRAGPCFDQHGGQQSPGMGMMHSAS
AAAAGAPGSMDPLQNSHEGYPNSQCNHYPGYSRPGAGGGGGGGGGGGGGSGGGGGGGGAGAGGAGAGAVAAAAAAAAAAAGGGGGGGYGG
SSAGYGVLSSPRQQGGGMMMGPGGGGAASLSKAAAGSAAGGFQRFAGQNQHPSGATPTLNQLLTSPSPMMRSYGGSYPEYSSPSAPPPPP
SQPQSQAAAAGAAAGGQQAAAGMGLGKDMGAQYAAASPAWAAAQQRSHPAMSPGTPGPTMGRSQGSPMDPMVMKRPQLYGMGSNPHSQPQ
QSSPYPGGSYGPPGPQRYPIGIQGRTPGAMAGMQYPQQQDGSLGNIDDLAQQYADYYNTCFSDVCERMEELRKRRVSQDLEVEKPDASPT
SLQLRSQIEESLGFCSAVSTPEVERKNPLHKSNSEDSSVGKGDWKKKNKYFWQNFRKNQKGIMRQTSKGEDVGYVASEITMSDEERIQLM
MMVKEKMITIEEALARLKEYEAQHRQSAALDPADWPDGSYPTFDGSSNCNSREQSDDETEESVKFKRLHKLVNSTRRVRKKLIRVEEMKK
PSTEGGEEHVFENSPVLDERSALYSGVHKKPLFFDGSPEKPPEDDSDSLTTSPSSSSLDTWGAGRKLVKTFSKGESRGLIKPPKKMGTFF
SYPEEEKAQKVSRSLTEGEMKKGLGSLSHGRTCSFGGFDLTNRSLHVGSNNSDPMGKEGDFVYKEVIKSPTASRISLGKKVKSVKETMRK
RMSKKYSSSVSEQDSGLDGMPGSPPPSQPDPEHLDKPKLKAGGSVESLRSSLSGQSSMSGQTVSTTDSSTSNRESVKSEDGDDEEPPYRG
PFCGRARVHTDFTPSPYDTDSLKLKKGDIIDIISKPPMGTWMGLLNNKVGTFKFIYVDVLSEDEEKPKRPTRRRRKGRPPQPKSVEDLLD
RINLKEHMPTFLFNGYEDLDTFKLLEEEDLDELNIRDPEHRAVLLTAVELLQEYDSNSDQSGSQEKLLVDSQGLSGCSPRDSGCYESSEN
LENGKTRKASLLSAKSSTEPSLKSFSRNQLGNYPTLPLMKSGDALKQGQEEGRLGGGLAPDTSKSCDPPGVTGLNKNRRSLPVSICRSCE
TLEGPQTVDTWPRSHSLDDLQVEPGAEQDVPTEVTEPPPQIVPEVPQKTTASSTKAQPLEQDSAVDNALLLTQSKRFSEPQKLTTKKLEG
SIAASGRGLSPPQCLPRNYDAQPPGAKHGLARTPLEGHRKGHEFEGTHHPLGTKEGVDAEQRMQPKIPSQPPPVPAKKSRERLANGLHPV
PMGPSGALPSPDAPCLPVKRGSPASPTSPSDCPPALAPRPLSGQAPGSPPSTRPPPWLSELPENTSLQEHGVKLGPALTRKVSCARGVDL
ETLTENKLHAEGIDLTEEPYSDKHGRCGIPEALVQRYAEDLDQPERDVAANMDQIRVKQLRKQHRMAIPSGGLTEICRKPVSPGCISSVS

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

>6418_6418_4_ARID1B-SASH1_ARID1B_chr6_157150555_ENST00000346085_SASH1_chr6_148711270_ENST00000367469_length(amino acids)=656AA_BP=578
MAHNAGAAAAAGTHSAKSGGSEAALKEGGSAAALSSSSSSSAAAAAASSSSSSGPGSAMETGLLPNHKLKTVGEAPAAPPHQQHHHHHHA
HHHHHHAHHLHHHHALQQQLNQFQQQQQQQQQQQQQQQQQQHPISNNNSLGGAGGGAPQPGPDMEQPQHGGAKDSAAGGQADPPGPPLLS
KPGDEDDAPPKMGEPAGGRYEHPGLGALGTQQPPVAVPGGGGGPAAVPEFNNYYGSAAPASGGPGGRAGPCFDQHGGQQSPGMGMMHSAS
AAAAGAPGSMDPLQNSHEGYPNSQCNHYPGYSRPGAGGGGGGGGGGGGGSGGGGGGGGAGAGGAGAGAVAAAAAAAAAAAGGGGGGGYGG
SSAGYGVLSSPRQQGGGMMMGPGGGGAASLSKAAAGSAAGGFQRFAGQNQHPSGATPTLNQLLTSPSPMMRSYGGSYPEYSSPSAPPPPP
SQPQSQAAAAGAAAGGQQAAAGMGLGKDMGAQYAAASPAWAAAQQRSHPAMSPGTPGPTMGRSQGSPMDPMVMKRPQLYGMGSNPHSQPQ
QSSPYPGGSYGPPGPQRYPIGIQGRTPGAMAGMQYPQQQDGSLGNIDDLAQQYADYYNTCFSDVCERMEELRKRRVSQDLEVEKPDASPT

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

>6418_6418_5_ARID1B-SASH1_ARID1B_chr6_157150555_ENST00000350026_SASH1_chr6_148711270_ENST00000367467_length(amino acids)=1774AA_BP=578
MAHNAGAAAAAGTHSAKSGGSEAALKEGGSAAALSSSSSSSAAAAAASSSSSSGPGSAMETGLLPNHKLKTVGEAPAAPPHQQHHHHHHA
HHHHHHAHHLHHHHALQQQLNQFQQQQQQQQQQQQQQQQQQHPISNNNSLGGAGGGAPQPGPDMEQPQHGGAKDSAAGGQADPPGPPLLS
KPGDEDDAPPKMGEPAGGRYEHPGLGALGTQQPPVAVPGGGGGPAAVPEFNNYYGSAAPASGGPGGRAGPCFDQHGGQQSPGMGMMHSAS
AAAAGAPGSMDPLQNSHEGYPNSQCNHYPGYSRPGAGGGGGGGGGGGGGSGGGGGGGGAGAGGAGAGAVAAAAAAAAAAAGGGGGGGYGG
SSAGYGVLSSPRQQGGGMMMGPGGGGAASLSKAAAGSAAGGFQRFAGQNQHPSGATPTLNQLLTSPSPMMRSYGGSYPEYSSPSAPPPPP
SQPQSQAAAAGAAAGGQQAAAGMGLGKDMGAQYAAASPAWAAAQQRSHPAMSPGTPGPTMGRSQGSPMDPMVMKRPQLYGMGSNPHSQPQ
QSSPYPGGSYGPPGPQRYPIGIQGRTPGAMAGMQYPQQQDGSLGNIDDLAQQYADYYNTCFSDVCERMEELRKRRVSQDLEVEKPDASPT
SLQLRSQIEESLGFCSAVSTPEVERKNPLHKSNSEDSSVGKGDWKKKNKYFWQNFRKNQKGIMRQTSKGEDVGYVASEITMSDEERIQLM
MMVKEKMITIEEALARLKEYEAQHRQSAALDPADWPDGSYPTFDGSSNCNSREQSDDETEESVKFKRLHKLVNSTRRVRKKLIRVEEMKK
PSTEGGEEHVFENSPVLDERSALYSGVHKKPLFFDGSPEKPPEDDSDSLTTSPSSSSLDTWGAGRKLVKTFSKGESRGLIKPPKKMGTFF
SYPEEEKAQKVSRSLTEGEMKKGLGSLSHGRTCSFGGFDLTNRSLHVGSNNSDPMGKEGDFVYKEVIKSPTASRISLGKKVKSVKETMRK
RMSKKYSSSVSEQDSGLDGMPGSPPPSQPDPEHLDKPKLKAGGSVESLRSSLSGQSSMSGQTVSTTDSSTSNRESVKSEDGDDEEPPYRG
PFCGRARVHTDFTPSPYDTDSLKLKKGDIIDIISKPPMGTWMGLLNNKVGTFKFIYVDVLSEDEEKPKRPTRRRRKGRPPQPKSVEDLLD
RINLKEHMPTFLFNGYEDLDTFKLLEEEDLDELNIRDPEHRAVLLTAVELLQEYDSNSDQSGSQEKLLVDSQGLSGCSPRDSGCYESSEN
LENGKTRKASLLSAKSSTEPSLKSFSRNQLGNYPTLPLMKSGDALKQGQEEGRLGGGLAPDTSKSCDPPGVTGLNKNRRSLPVSICRSCE
TLEGPQTVDTWPRSHSLDDLQVEPGAEQDVPTEVTEPPPQIVPEVPQKTTASSTKAQPLEQDSAVDNALLLTQSKRFSEPQKLTTKKLEG
SIAASGRGLSPPQCLPRNYDAQPPGAKHGLARTPLEGHRKGHEFEGTHHPLGTKEGVDAEQRMQPKIPSQPPPVPAKKSRERLANGLHPV
PMGPSGALPSPDAPCLPVKRGSPASPTSPSDCPPALAPRPLSGQAPGSPPSTRPPPWLSELPENTSLQEHGVKLGPALTRKVSCARGVDL
ETLTENKLHAEGIDLTEEPYSDKHGRCGIPEALVQRYAEDLDQPERDVAANMDQIRVKQLRKQHRMAIPSGGLTEICRKPVSPGCISSVS

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

>6418_6418_6_ARID1B-SASH1_ARID1B_chr6_157150555_ENST00000350026_SASH1_chr6_148711270_ENST00000367469_length(amino acids)=656AA_BP=578
MAHNAGAAAAAGTHSAKSGGSEAALKEGGSAAALSSSSSSSAAAAAASSSSSSGPGSAMETGLLPNHKLKTVGEAPAAPPHQQHHHHHHA
HHHHHHAHHLHHHHALQQQLNQFQQQQQQQQQQQQQQQQQQHPISNNNSLGGAGGGAPQPGPDMEQPQHGGAKDSAAGGQADPPGPPLLS
KPGDEDDAPPKMGEPAGGRYEHPGLGALGTQQPPVAVPGGGGGPAAVPEFNNYYGSAAPASGGPGGRAGPCFDQHGGQQSPGMGMMHSAS
AAAAGAPGSMDPLQNSHEGYPNSQCNHYPGYSRPGAGGGGGGGGGGGGGSGGGGGGGGAGAGGAGAGAVAAAAAAAAAAAGGGGGGGYGG
SSAGYGVLSSPRQQGGGMMMGPGGGGAASLSKAAAGSAAGGFQRFAGQNQHPSGATPTLNQLLTSPSPMMRSYGGSYPEYSSPSAPPPPP
SQPQSQAAAAGAAAGGQQAAAGMGLGKDMGAQYAAASPAWAAAQQRSHPAMSPGTPGPTMGRSQGSPMDPMVMKRPQLYGMGSNPHSQPQ
QSSPYPGGSYGPPGPQRYPIGIQGRTPGAMAGMQYPQQQDGSLGNIDDLAQQYADYYNTCFSDVCERMEELRKRRVSQDLEVEKPDASPT

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

>6418_6418_7_ARID1B-SASH1_ARID1B_chr6_157150555_ENST00000367148_SASH1_chr6_148711270_ENST00000367467_length(amino acids)=1774AA_BP=578
MAHNAGAAAAAGTHSAKSGGSEAALKEGGSAAALSSSSSSSAAAAAASSSSSSGPGSAMETGLLPNHKLKTVGEAPAAPPHQQHHHHHHA
HHHHHHAHHLHHHHALQQQLNQFQQQQQQQQQQQQQQQQQQHPISNNNSLGGAGGGAPQPGPDMEQPQHGGAKDSAAGGQADPPGPPLLS
KPGDEDDAPPKMGEPAGGRYEHPGLGALGTQQPPVAVPGGGGGPAAVPEFNNYYGSAAPASGGPGGRAGPCFDQHGGQQSPGMGMMHSAS
AAAAGAPGSMDPLQNSHEGYPNSQCNHYPGYSRPGAGGGGGGGGGGGGGSGGGGGGGGAGAGGAGAGAVAAAAAAAAAAAGGGGGGGYGG
SSAGYGVLSSPRQQGGGMMMGPGGGGAASLSKAAAGSAAGGFQRFAGQNQHPSGATPTLNQLLTSPSPMMRSYGGSYPEYSSPSAPPPPP
SQPQSQAAAAGAAAGGQQAAAGMGLGKDMGAQYAAASPAWAAAQQRSHPAMSPGTPGPTMGRSQGSPMDPMVMKRPQLYGMGSNPHSQPQ
QSSPYPGGSYGPPGPQRYPIGIQGRTPGAMAGMQYPQQQDGSLGNIDDLAQQYADYYNTCFSDVCERMEELRKRRVSQDLEVEKPDASPT
SLQLRSQIEESLGFCSAVSTPEVERKNPLHKSNSEDSSVGKGDWKKKNKYFWQNFRKNQKGIMRQTSKGEDVGYVASEITMSDEERIQLM
MMVKEKMITIEEALARLKEYEAQHRQSAALDPADWPDGSYPTFDGSSNCNSREQSDDETEESVKFKRLHKLVNSTRRVRKKLIRVEEMKK
PSTEGGEEHVFENSPVLDERSALYSGVHKKPLFFDGSPEKPPEDDSDSLTTSPSSSSLDTWGAGRKLVKTFSKGESRGLIKPPKKMGTFF
SYPEEEKAQKVSRSLTEGEMKKGLGSLSHGRTCSFGGFDLTNRSLHVGSNNSDPMGKEGDFVYKEVIKSPTASRISLGKKVKSVKETMRK
RMSKKYSSSVSEQDSGLDGMPGSPPPSQPDPEHLDKPKLKAGGSVESLRSSLSGQSSMSGQTVSTTDSSTSNRESVKSEDGDDEEPPYRG
PFCGRARVHTDFTPSPYDTDSLKLKKGDIIDIISKPPMGTWMGLLNNKVGTFKFIYVDVLSEDEEKPKRPTRRRRKGRPPQPKSVEDLLD
RINLKEHMPTFLFNGYEDLDTFKLLEEEDLDELNIRDPEHRAVLLTAVELLQEYDSNSDQSGSQEKLLVDSQGLSGCSPRDSGCYESSEN
LENGKTRKASLLSAKSSTEPSLKSFSRNQLGNYPTLPLMKSGDALKQGQEEGRLGGGLAPDTSKSCDPPGVTGLNKNRRSLPVSICRSCE
TLEGPQTVDTWPRSHSLDDLQVEPGAEQDVPTEVTEPPPQIVPEVPQKTTASSTKAQPLEQDSAVDNALLLTQSKRFSEPQKLTTKKLEG
SIAASGRGLSPPQCLPRNYDAQPPGAKHGLARTPLEGHRKGHEFEGTHHPLGTKEGVDAEQRMQPKIPSQPPPVPAKKSRERLANGLHPV
PMGPSGALPSPDAPCLPVKRGSPASPTSPSDCPPALAPRPLSGQAPGSPPSTRPPPWLSELPENTSLQEHGVKLGPALTRKVSCARGVDL
ETLTENKLHAEGIDLTEEPYSDKHGRCGIPEALVQRYAEDLDQPERDVAANMDQIRVKQLRKQHRMAIPSGGLTEICRKPVSPGCISSVS

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

>6418_6418_8_ARID1B-SASH1_ARID1B_chr6_157150555_ENST00000367148_SASH1_chr6_148711270_ENST00000367469_length(amino acids)=656AA_BP=578
MAHNAGAAAAAGTHSAKSGGSEAALKEGGSAAALSSSSSSSAAAAAASSSSSSGPGSAMETGLLPNHKLKTVGEAPAAPPHQQHHHHHHA
HHHHHHAHHLHHHHALQQQLNQFQQQQQQQQQQQQQQQQQQHPISNNNSLGGAGGGAPQPGPDMEQPQHGGAKDSAAGGQADPPGPPLLS
KPGDEDDAPPKMGEPAGGRYEHPGLGALGTQQPPVAVPGGGGGPAAVPEFNNYYGSAAPASGGPGGRAGPCFDQHGGQQSPGMGMMHSAS
AAAAGAPGSMDPLQNSHEGYPNSQCNHYPGYSRPGAGGGGGGGGGGGGGSGGGGGGGGAGAGGAGAGAVAAAAAAAAAAAGGGGGGGYGG
SSAGYGVLSSPRQQGGGMMMGPGGGGAASLSKAAAGSAAGGFQRFAGQNQHPSGATPTLNQLLTSPSPMMRSYGGSYPEYSSPSAPPPPP
SQPQSQAAAAGAAAGGQQAAAGMGLGKDMGAQYAAASPAWAAAQQRSHPAMSPGTPGPTMGRSQGSPMDPMVMKRPQLYGMGSNPHSQPQ
QSSPYPGGSYGPPGPQRYPIGIQGRTPGAMAGMQYPQQQDGSLGNIDDLAQQYADYYNTCFSDVCERMEELRKRRVSQDLEVEKPDASPT

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

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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/chr6:148711398/chr6:157256600)
- 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
ARID1B Q8NFD5	SASH1 O94885
FUNCTION: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Binds DNA non-specifically (PubMed:14982958, PubMed:15170388). {ECO:0000250\|UniProtKB:E9Q4N7, ECO:0000269\|PubMed:14982958, ECO:0000269\|PubMed:15170388, ECO:0000303\|PubMed:12672490, ECO:0000303\|PubMed:22952240, ECO:0000303\|PubMed:26601204}.	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

ARID1B

chr6:157150555

chr6:148711270

ENST00000346085

107_131

579.0

2250.0

Compositional bias

Note=Gln-rich

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000346085

114_131

579.0

2250.0

Compositional bias

Note=Poly-Gln

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000346085

141_401

579.0

2250.0

Compositional bias

Note=Gly-rich

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000346085

2_47

579.0

2250.0

Compositional bias

Note=Ala-rich

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000346085

329_493

579.0

2250.0

Compositional bias

Note=Ala-rich

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000346085

35_57

579.0

2250.0

Compositional bias

Note=Ser-rich

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000346085

81_104

579.0

2250.0

Compositional bias

Note=His-rich

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000350026

107_131

579.0

2237.0

Compositional bias

Note=Gln-rich

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000350026

114_131

579.0

2237.0

Compositional bias

Note=Poly-Gln

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000350026

141_401

579.0

2237.0

Compositional bias

Note=Gly-rich

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000350026

2_47

579.0

2237.0

Compositional bias

Note=Ala-rich

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000350026

329_493

579.0

2237.0

Compositional bias

Note=Ala-rich

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000350026

35_57

579.0

2237.0

Compositional bias

Note=Ser-rich

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000350026

81_104

579.0

2237.0

Compositional bias

Note=His-rich

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000367148

107_131

579.0

2290.0

Compositional bias

Note=Gln-rich

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000367148

114_131

579.0

2290.0

Compositional bias

Note=Poly-Gln

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000367148

141_401

579.0

2290.0

Compositional bias

Note=Gly-rich

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000367148

2_47

579.0

2290.0

Compositional bias

Note=Ala-rich

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000367148

329_493

579.0

2290.0

Compositional bias

Note=Ala-rich

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000367148

35_57

579.0

2290.0

Compositional bias

Note=Ser-rich

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000367148

81_104

579.0

2290.0

Compositional bias

Note=His-rich

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000346085

419_423

579.0

2250.0

Motif

Note=LXXLL

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000350026

419_423

579.0

2237.0

Motif

Note=LXXLL

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000367148

419_423

579.0

2290.0

Motif

Note=LXXLL

Tgene

SASH1

chr6:157150555

chr6:148711270

ENST00000367467

978_1059

52.0

1248.0

Compositional bias

Note=Pro-rich

Tgene

SASH1

chr6:157150555

chr6:148711270

ENST00000367467

1177_1241

52.0

1248.0

Domain

SAM 2

Tgene

SASH1

chr6:157150555

chr6:148711270

ENST00000367467

554_615

52.0

1248.0

Domain

SH3

Tgene

SASH1

chr6:157150555

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

ARID1B

chr6:157150555

chr6:148711270

ENST00000346085

1034_1037

579.0

2250.0

Compositional bias

Note=Poly-Ser

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000346085

1441_1444

579.0

2250.0

Compositional bias

Note=Poly-Ser

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000346085

1459_1597

579.0

2250.0

Compositional bias

Note=Pro-rich

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000346085

1833_1836

579.0

2250.0

Compositional bias

Note=Poly-Pro

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000346085

574_633

579.0

2250.0

Compositional bias

Note=Gln-rich

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000346085

684_771

579.0

2250.0

Compositional bias

Note=Ser-rich

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000346085

932_935

579.0

2250.0

Compositional bias

Note=Poly-Ala

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000350026

1034_1037

579.0

2237.0

Compositional bias

Note=Poly-Ser

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000350026

1441_1444

579.0

2237.0

Compositional bias

Note=Poly-Ser

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000350026

1459_1597

579.0

2237.0

Compositional bias

Note=Pro-rich

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000350026

1833_1836

579.0

2237.0

Compositional bias

Note=Poly-Pro

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000350026

574_633

579.0

2237.0

Compositional bias

Note=Gln-rich

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000350026

684_771

579.0

2237.0

Compositional bias

Note=Ser-rich

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000350026

932_935

579.0

2237.0

Compositional bias

Note=Poly-Ala

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000367148

1034_1037

579.0

2290.0

Compositional bias

Note=Poly-Ser

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000367148

1441_1444

579.0

2290.0

Compositional bias

Note=Poly-Ser

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000367148

1459_1597

579.0

2290.0

Compositional bias

Note=Pro-rich

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000367148

1833_1836

579.0

2290.0

Compositional bias

Note=Poly-Pro

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000367148

574_633

579.0

2290.0

Compositional bias

Note=Gln-rich

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000367148

684_771

579.0

2290.0

Compositional bias

Note=Ser-rich

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000367148

932_935

579.0

2290.0

Compositional bias

Note=Poly-Ala

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000346085

1053_1144

579.0

2250.0

Domain

ARID

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000350026

1053_1144

579.0

2237.0

Domain

ARID

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000367148

1053_1144

579.0

2290.0

Domain

ARID

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000346085

1358_1377

579.0

2250.0

Motif

Nuclear localization signal

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000346085

2036_2040

579.0

2250.0

Motif

Note=LXXLL

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000350026

1358_1377

579.0

2237.0

Motif

Nuclear localization signal

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000350026

2036_2040

579.0

2237.0

Motif

Note=LXXLL

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000367148

1358_1377

579.0

2290.0

Motif

Nuclear localization signal

Hgene

ARID1B

chr6:157150555

chr6:148711270

ENST00000367148

2036_2040

579.0

2290.0

Motif

Note=LXXLL

Tgene

SASH1

chr6:157150555

chr6:148711270

ENST00000367467

9_33

52.0

1248.0

Compositional bias

Note=Pro-rich

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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
ARID1B
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 ARID1B-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 ARID1B-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