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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:UTP14A-BACE2

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: UTP14A-BACE2
	FusionPDB ID: 97703
	FusionGDB2.0 ID: 97703
		Hgene	Tgene
	Gene symbol	UTP14A	BACE2
	Gene ID	10813	25825
	Gene name	UTP14A small subunit processome component	beta-secretase 2
	Synonyms	NYCO16\|SDCCAG16\|Utp14\|dJ537K23.3	AEPLC\|ALP56\|ASP1\|ASP21\|BAE2\|CDA13\|CEAP1\|DRAP
	Cytomap	Xq26.1	21q22.2-q22.3
	Type of gene	protein-coding	protein-coding
	Description	U3 small nucleolar RNA-associated protein 14 homolog AUTP14, U3 small nucleolar ribonucleoprotein, homolog AUTP14A small subunit (SSU) processome componentantigen NY-CO-16serologically defined colon cancer antigen 16	beta-secretase 256 kDa aspartic-like proteaseDown syndrome region aspartic proteaseSLCO3A1/BACE2 fusionaspartyl protease 1beta-site APP-cleaving enzyme 2beta-site amyloid beta A4 precursor protein-cleaving enzyme 2memapsin-1membrane-associated asp
	Modification date	20200313	20200313
	UniProtAcc	.	Q9Y5Z0
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000371042, ENST00000371051, ENST00000394422, ENST00000425117, ENST00000498179,	ENST00000466122, ENST00000328735, ENST00000330333, ENST00000347667,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	5 X 5 X 2=50	14 X 9 X 8=1008
	# samples	5	14
	** MAII score	log2(5/50*10)=0	log2(14/1008*10)=-2.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: UTP14A [Title/Abstract] AND BACE2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	UTP14A(129059088)-BACE2(42598234), # samples:1
Anticipated loss of major functional domain due to fusion event.	UTP14A-BACE2 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. UTP14A-BACE2 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	BACE2	GO:0006509	membrane protein ectodomain proteolysis	10591213

Fusion gene breakpoints across UTP14A (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 BACE2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChiTaRS5.0	N/A	DA568103	UTP14A	chrX	129059088	+	BACE2	chr21	42598234	+

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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)
ENST00000425117	UTP14A	chrX	129059088	+	ENST00000328735	BACE2	chr21	42598234	+	3372	1365	78	2201	707
ENST00000425117	UTP14A	chrX	129059088	+	ENST00000330333	BACE2	chr21	42598234	+	3541	1365	78	2567	829
ENST00000425117	UTP14A	chrX	129059088	+	ENST00000347667	BACE2	chr21	42598234	+	9312	1365	78	2417	779
ENST00000394422	UTP14A	chrX	129059088	+	ENST00000328735	BACE2	chr21	42598234	+	3466	1459	16	2295	759
ENST00000394422	UTP14A	chrX	129059088	+	ENST00000330333	BACE2	chr21	42598234	+	3635	1459	16	2661	881
ENST00000394422	UTP14A	chrX	129059088	+	ENST00000347667	BACE2	chr21	42598234	+	9406	1459	16	2511	831
ENST00000371051	UTP14A	chrX	129059088	+	ENST00000328735	BACE2	chr21	42598234	+	3393	1386	117	2222	701
ENST00000371051	UTP14A	chrX	129059088	+	ENST00000330333	BACE2	chr21	42598234	+	3562	1386	117	2588	823
ENST00000371051	UTP14A	chrX	129059088	+	ENST00000347667	BACE2	chr21	42598234	+	9333	1386	117	2438	773
ENST00000371042	UTP14A	chrX	129059088	+	ENST00000328735	BACE2	chr21	42598234	+	2934	927	0	1763	587
ENST00000371042	UTP14A	chrX	129059088	+	ENST00000330333	BACE2	chr21	42598234	+	3103	927	0	2129	709
ENST00000371042	UTP14A	chrX	129059088	+	ENST00000347667	BACE2	chr21	42598234	+	8874	927	0	1979	659

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
ENST00000425117	ENST00000328735	UTP14A	chrX	129059088	+	BACE2	chr21	42598234	+	0.003219083	0.9967809
ENST00000425117	ENST00000330333	UTP14A	chrX	129059088	+	BACE2	chr21	42598234	+	0.002213604	0.9977864
ENST00000425117	ENST00000347667	UTP14A	chrX	129059088	+	BACE2	chr21	42598234	+	0.000578253	0.9994217
ENST00000394422	ENST00000328735	UTP14A	chrX	129059088	+	BACE2	chr21	42598234	+	0.003894656	0.9961054
ENST00000394422	ENST00000330333	UTP14A	chrX	129059088	+	BACE2	chr21	42598234	+	0.001995924	0.998004
ENST00000394422	ENST00000347667	UTP14A	chrX	129059088	+	BACE2	chr21	42598234	+	0.000579073	0.999421
ENST00000371051	ENST00000328735	UTP14A	chrX	129059088	+	BACE2	chr21	42598234	+	0.00611094	0.9938891
ENST00000371051	ENST00000330333	UTP14A	chrX	129059088	+	BACE2	chr21	42598234	+	0.003699963	0.99630004
ENST00000371051	ENST00000347667	UTP14A	chrX	129059088	+	BACE2	chr21	42598234	+	0.000783053	0.9992169
ENST00000371042	ENST00000328735	UTP14A	chrX	129059088	+	BACE2	chr21	42598234	+	0.003236872	0.9967631
ENST00000371042	ENST00000330333	UTP14A	chrX	129059088	+	BACE2	chr21	42598234	+	0.002117746	0.9978822
ENST00000371042	ENST00000347667	UTP14A	chrX	129059088	+	BACE2	chr21	42598234	+	0.000537175	0.9994628

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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

>97703_97703_1_UTP14A-BACE2_UTP14A_chrX_129059088_ENST00000371042_BACE2_chr21_42598234_ENST00000328735_length(amino acids)=587AA_BP=309
MKGDFRKKKSEARTPLEQEIFNLLHKNKQPVTDPLLTPVEKASLRAMSLEEAKMRRAELQRARALQSYYEAKARREKKIKSKKYHKVVKK
GKAKKALKEFEQLRKVNPAAALEELEKIEKARMMERMSLKHQNSGKWAKSKAIMAKYDLEARQAMQEQLSKNKELTQKLQVASESEEEEG
GTEDVEELLVPDVVNEVQMNADGPNPWMLRSCTSDTKEAATQEDPEQLPELEAHGVSESEGEERPVAEEEILLREFEERRSLRKRSELSQ
DAEPAGSQETKEQMIDLQNLLTTQSPSVKSLAVPTIEELAGTPHSYIDTYFDTERSSTYRSKGFDVTVKYTQGSWTGFVGEDLVTIPKGF
NTSFLVNIATIFESENFFLPGIKWNGILGLAYATLAKPSSSLETFFDSLVTQANIPNVFSMQMCGAGLPVAGSGTNGGSLVLGGIEPSLY
KGDIWYTPIKEEWYYQIEILKLEIGGQSLNLDCREYNADKAIVDSGTTLLRLPQKVFDAVVEAVARASLIPEFSDGFWTGSQLACWTNSE

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

>97703_97703_2_UTP14A-BACE2_UTP14A_chrX_129059088_ENST00000371042_BACE2_chr21_42598234_ENST00000330333_length(amino acids)=709AA_BP=309
MKGDFRKKKSEARTPLEQEIFNLLHKNKQPVTDPLLTPVEKASLRAMSLEEAKMRRAELQRARALQSYYEAKARREKKIKSKKYHKVVKK
GKAKKALKEFEQLRKVNPAAALEELEKIEKARMMERMSLKHQNSGKWAKSKAIMAKYDLEARQAMQEQLSKNKELTQKLQVASESEEEEG
GTEDVEELLVPDVVNEVQMNADGPNPWMLRSCTSDTKEAATQEDPEQLPELEAHGVSESEGEERPVAEEEILLREFEERRSLRKRSELSQ
DAEPAGSQETKEQMIDLQNLLTTQSPSVKSLAVPTIEELAGTPHSYIDTYFDTERSSTYRSKGFDVTVKYTQGSWTGFVGEDLVTIPKGF
NTSFLVNIATIFESENFFLPGIKWNGILGLAYATLAKPSSSLETFFDSLVTQANIPNVFSMQMCGAGLPVAGSGTNGGSLVLGGIEPSLY
KGDIWYTPIKEEWYYQIEILKLEIGGQSLNLDCREYNADKAIVDSGTTLLRLPQKVFDAVVEAVARASLIPEFSDGFWTGSQLACWTNSE
TPWSYFPKISIYLRDENSSRSFRITILPQLYIQPMMGAGLNYECYRFGISPSTNALVIGATVMEGFYVIFDRAQKRVGFAASPCAEIAGA

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

>97703_97703_3_UTP14A-BACE2_UTP14A_chrX_129059088_ENST00000371042_BACE2_chr21_42598234_ENST00000347667_length(amino acids)=659AA_BP=309
MKGDFRKKKSEARTPLEQEIFNLLHKNKQPVTDPLLTPVEKASLRAMSLEEAKMRRAELQRARALQSYYEAKARREKKIKSKKYHKVVKK
GKAKKALKEFEQLRKVNPAAALEELEKIEKARMMERMSLKHQNSGKWAKSKAIMAKYDLEARQAMQEQLSKNKELTQKLQVASESEEEEG
GTEDVEELLVPDVVNEVQMNADGPNPWMLRSCTSDTKEAATQEDPEQLPELEAHGVSESEGEERPVAEEEILLREFEERRSLRKRSELSQ
DAEPAGSQETKEQMIDLQNLLTTQSPSVKSLAVPTIEELAGTPHSYIDTYFDTERSSTYRSKGFDVTVKYTQGSWTGFVGEDLVTIPKGF
NTSFLVNIATIFESENFFLPGIKWNGILGLAYATLAKPSSSLETFFDSLVTQANIPNVFSMQMCGAGLPVAGSGTNGGSLVLGGIEPSLY
KGDIWYTPIKEEWYYQIEILKLEIGGQSLNLDCREYNADKAIVDSGTTLLRLPQKVFDAVVEAVARASLLYIQPMMGAGLNYECYRFGIS
PSTNALVIGATVMEGFYVIFDRAQKRVGFAASPCAEIAGAAVSEISGPFSTEDVASNCVPAQSLSEPILWIVSYALMSVCGAILLVLIVL

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

>97703_97703_4_UTP14A-BACE2_UTP14A_chrX_129059088_ENST00000371051_BACE2_chr21_42598234_ENST00000328735_length(amino acids)=701AA_BP=423
MRGTMMERESIKSFWKQSVPLMERIGSGEKLVLADLLEPVKTSSSLATVKKQLSRVKSKKTVELPLNKEEIERIHREVAFNKTAQVLSKW
DPVVLKNRQAEQLVFPLEKEEPAIAPIEHVLSGWKARTPLEQEIFNLLHKNKQPVTDPLLTPVEKASLRAMSLEEAKMRRAELQRARALQ
SYYEAKARREKKIKSKKYHKVVKKGKAKKALKEFEQLRKVNPAAALEELEKIEKARMMERMSLKHQNSGKWAKSKAIMAKYDLEARQAMQ
EQLSKNKELTQKLQVASESEEEEGGTEDVEELLVPDVVNEVQMNADGPNPWMLRSCTSDTKEAATQEDPEQLPELEAHGVSESEGEERPV
AEEEILLREFEERRSLRKRSELSQDAEPAGSQETKEQMIDLQNLLTTQSPSVKSLAVPTIEELAGTPHSYIDTYFDTERSSTYRSKGFDV
TVKYTQGSWTGFVGEDLVTIPKGFNTSFLVNIATIFESENFFLPGIKWNGILGLAYATLAKPSSSLETFFDSLVTQANIPNVFSMQMCGA
GLPVAGSGTNGGSLVLGGIEPSLYKGDIWYTPIKEEWYYQIEILKLEIGGQSLNLDCREYNADKAIVDSGTTLLRLPQKVFDAVVEAVAR

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

>97703_97703_5_UTP14A-BACE2_UTP14A_chrX_129059088_ENST00000371051_BACE2_chr21_42598234_ENST00000330333_length(amino acids)=823AA_BP=423
MRGTMMERESIKSFWKQSVPLMERIGSGEKLVLADLLEPVKTSSSLATVKKQLSRVKSKKTVELPLNKEEIERIHREVAFNKTAQVLSKW
DPVVLKNRQAEQLVFPLEKEEPAIAPIEHVLSGWKARTPLEQEIFNLLHKNKQPVTDPLLTPVEKASLRAMSLEEAKMRRAELQRARALQ
SYYEAKARREKKIKSKKYHKVVKKGKAKKALKEFEQLRKVNPAAALEELEKIEKARMMERMSLKHQNSGKWAKSKAIMAKYDLEARQAMQ
EQLSKNKELTQKLQVASESEEEEGGTEDVEELLVPDVVNEVQMNADGPNPWMLRSCTSDTKEAATQEDPEQLPELEAHGVSESEGEERPV
AEEEILLREFEERRSLRKRSELSQDAEPAGSQETKEQMIDLQNLLTTQSPSVKSLAVPTIEELAGTPHSYIDTYFDTERSSTYRSKGFDV
TVKYTQGSWTGFVGEDLVTIPKGFNTSFLVNIATIFESENFFLPGIKWNGILGLAYATLAKPSSSLETFFDSLVTQANIPNVFSMQMCGA
GLPVAGSGTNGGSLVLGGIEPSLYKGDIWYTPIKEEWYYQIEILKLEIGGQSLNLDCREYNADKAIVDSGTTLLRLPQKVFDAVVEAVAR
ASLIPEFSDGFWTGSQLACWTNSETPWSYFPKISIYLRDENSSRSFRITILPQLYIQPMMGAGLNYECYRFGISPSTNALVIGATVMEGF
YVIFDRAQKRVGFAASPCAEIAGAAVSEISGPFSTEDVASNCVPAQSLSEPILWIVSYALMSVCGAILLVLIVLLLLPFRCQRRPRDPEV

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

>97703_97703_6_UTP14A-BACE2_UTP14A_chrX_129059088_ENST00000371051_BACE2_chr21_42598234_ENST00000347667_length(amino acids)=773AA_BP=423
MRGTMMERESIKSFWKQSVPLMERIGSGEKLVLADLLEPVKTSSSLATVKKQLSRVKSKKTVELPLNKEEIERIHREVAFNKTAQVLSKW
DPVVLKNRQAEQLVFPLEKEEPAIAPIEHVLSGWKARTPLEQEIFNLLHKNKQPVTDPLLTPVEKASLRAMSLEEAKMRRAELQRARALQ
SYYEAKARREKKIKSKKYHKVVKKGKAKKALKEFEQLRKVNPAAALEELEKIEKARMMERMSLKHQNSGKWAKSKAIMAKYDLEARQAMQ
EQLSKNKELTQKLQVASESEEEEGGTEDVEELLVPDVVNEVQMNADGPNPWMLRSCTSDTKEAATQEDPEQLPELEAHGVSESEGEERPV
AEEEILLREFEERRSLRKRSELSQDAEPAGSQETKEQMIDLQNLLTTQSPSVKSLAVPTIEELAGTPHSYIDTYFDTERSSTYRSKGFDV
TVKYTQGSWTGFVGEDLVTIPKGFNTSFLVNIATIFESENFFLPGIKWNGILGLAYATLAKPSSSLETFFDSLVTQANIPNVFSMQMCGA
GLPVAGSGTNGGSLVLGGIEPSLYKGDIWYTPIKEEWYYQIEILKLEIGGQSLNLDCREYNADKAIVDSGTTLLRLPQKVFDAVVEAVAR
ASLLYIQPMMGAGLNYECYRFGISPSTNALVIGATVMEGFYVIFDRAQKRVGFAASPCAEIAGAAVSEISGPFSTEDVASNCVPAQSLSE

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

>97703_97703_7_UTP14A-BACE2_UTP14A_chrX_129059088_ENST00000394422_BACE2_chr21_42598234_ENST00000328735_length(amino acids)=759AA_BP=481
MAAEMTANRLAESLLALSQQEELADLPKDYLLSESEDEGDNDGERKHQKLLEAISSLDGKNRRKLAERSEASLKVSEFNVSSEGSGEKLV
LADLLEPVKTSSSLATVKKQLSRVKSKKTVELPLNKEEIERIHREVAFNKTAQVLSKWDPVVLKNRQAEQLVFPLEKEEPAIAPIEHVLS
GWKARTPLEQEIFNLLHKNKQPVTDPLLTPVEKASLRAMSLEEAKMRRAELQRARALQSYYEAKARREKKIKSKKYHKVVKKGKAKKALK
EFEQLRKVNPAAALEELEKIEKARMMERMSLKHQNSGKWAKSKAIMAKYDLEARQAMQEQLSKNKELTQKLQVASESEEEEGGTEDVEEL
LVPDVVNEVQMNADGPNPWMLRSCTSDTKEAATQEDPEQLPELEAHGVSESEGEERPVAEEEILLREFEERRSLRKRSELSQDAEPAGSQ
ETKEQMIDLQNLLTTQSPSVKSLAVPTIEELAGTPHSYIDTYFDTERSSTYRSKGFDVTVKYTQGSWTGFVGEDLVTIPKGFNTSFLVNI
ATIFESENFFLPGIKWNGILGLAYATLAKPSSSLETFFDSLVTQANIPNVFSMQMCGAGLPVAGSGTNGGSLVLGGIEPSLYKGDIWYTP
IKEEWYYQIEILKLEIGGQSLNLDCREYNADKAIVDSGTTLLRLPQKVFDAVVEAVARASLIPEFSDGFWTGSQLACWTNSETPWSYFPK

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

>97703_97703_8_UTP14A-BACE2_UTP14A_chrX_129059088_ENST00000394422_BACE2_chr21_42598234_ENST00000330333_length(amino acids)=881AA_BP=481
MAAEMTANRLAESLLALSQQEELADLPKDYLLSESEDEGDNDGERKHQKLLEAISSLDGKNRRKLAERSEASLKVSEFNVSSEGSGEKLV
LADLLEPVKTSSSLATVKKQLSRVKSKKTVELPLNKEEIERIHREVAFNKTAQVLSKWDPVVLKNRQAEQLVFPLEKEEPAIAPIEHVLS
GWKARTPLEQEIFNLLHKNKQPVTDPLLTPVEKASLRAMSLEEAKMRRAELQRARALQSYYEAKARREKKIKSKKYHKVVKKGKAKKALK
EFEQLRKVNPAAALEELEKIEKARMMERMSLKHQNSGKWAKSKAIMAKYDLEARQAMQEQLSKNKELTQKLQVASESEEEEGGTEDVEEL
LVPDVVNEVQMNADGPNPWMLRSCTSDTKEAATQEDPEQLPELEAHGVSESEGEERPVAEEEILLREFEERRSLRKRSELSQDAEPAGSQ
ETKEQMIDLQNLLTTQSPSVKSLAVPTIEELAGTPHSYIDTYFDTERSSTYRSKGFDVTVKYTQGSWTGFVGEDLVTIPKGFNTSFLVNI
ATIFESENFFLPGIKWNGILGLAYATLAKPSSSLETFFDSLVTQANIPNVFSMQMCGAGLPVAGSGTNGGSLVLGGIEPSLYKGDIWYTP
IKEEWYYQIEILKLEIGGQSLNLDCREYNADKAIVDSGTTLLRLPQKVFDAVVEAVARASLIPEFSDGFWTGSQLACWTNSETPWSYFPK
ISIYLRDENSSRSFRITILPQLYIQPMMGAGLNYECYRFGISPSTNALVIGATVMEGFYVIFDRAQKRVGFAASPCAEIAGAAVSEISGP

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

>97703_97703_9_UTP14A-BACE2_UTP14A_chrX_129059088_ENST00000394422_BACE2_chr21_42598234_ENST00000347667_length(amino acids)=831AA_BP=481
MAAEMTANRLAESLLALSQQEELADLPKDYLLSESEDEGDNDGERKHQKLLEAISSLDGKNRRKLAERSEASLKVSEFNVSSEGSGEKLV
LADLLEPVKTSSSLATVKKQLSRVKSKKTVELPLNKEEIERIHREVAFNKTAQVLSKWDPVVLKNRQAEQLVFPLEKEEPAIAPIEHVLS
GWKARTPLEQEIFNLLHKNKQPVTDPLLTPVEKASLRAMSLEEAKMRRAELQRARALQSYYEAKARREKKIKSKKYHKVVKKGKAKKALK
EFEQLRKVNPAAALEELEKIEKARMMERMSLKHQNSGKWAKSKAIMAKYDLEARQAMQEQLSKNKELTQKLQVASESEEEEGGTEDVEEL
LVPDVVNEVQMNADGPNPWMLRSCTSDTKEAATQEDPEQLPELEAHGVSESEGEERPVAEEEILLREFEERRSLRKRSELSQDAEPAGSQ
ETKEQMIDLQNLLTTQSPSVKSLAVPTIEELAGTPHSYIDTYFDTERSSTYRSKGFDVTVKYTQGSWTGFVGEDLVTIPKGFNTSFLVNI
ATIFESENFFLPGIKWNGILGLAYATLAKPSSSLETFFDSLVTQANIPNVFSMQMCGAGLPVAGSGTNGGSLVLGGIEPSLYKGDIWYTP
IKEEWYYQIEILKLEIGGQSLNLDCREYNADKAIVDSGTTLLRLPQKVFDAVVEAVARASLLYIQPMMGAGLNYECYRFGISPSTNALVI
GATVMEGFYVIFDRAQKRVGFAASPCAEIAGAAVSEISGPFSTEDVASNCVPAQSLSEPILWIVSYALMSVCGAILLVLIVLLLLPFRCQ

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

>97703_97703_10_UTP14A-BACE2_UTP14A_chrX_129059088_ENST00000425117_BACE2_chr21_42598234_ENST00000328735_length(amino acids)=707AA_BP=429
MAAEMTANRLAESLLALSQQEELADLPKDYLLSESEDEGDNDGERKHQKLLEAISSLDGKNRRKLAERSEASLKVSEFNVSSEGSGEKLV
LADLLEPVKTSSSLATVKKQLSRVKSKKTVELPLNKEEIERARTPLEQEIFNLLHKNKQPVTDPLLTPVEKASLRAMSLEEAKMRRAELQ
RARALQSYYEAKARREKKIKSKKYHKVVKKGKAKKALKEFEQLRKVNPAAALEELEKIEKARMMERMSLKHQNSGKWAKSKAIMAKYDLE
ARQAMQEQLSKNKELTQKLQVASESEEEEGGTEDVEELLVPDVVNEVQMNADGPNPWMLRSCTSDTKEAATQEDPEQLPELEAHGVSESE
GEERPVAEEEILLREFEERRSLRKRSELSQDAEPAGSQETKEQMIDLQNLLTTQSPSVKSLAVPTIEELAGTPHSYIDTYFDTERSSTYR
SKGFDVTVKYTQGSWTGFVGEDLVTIPKGFNTSFLVNIATIFESENFFLPGIKWNGILGLAYATLAKPSSSLETFFDSLVTQANIPNVFS
MQMCGAGLPVAGSGTNGGSLVLGGIEPSLYKGDIWYTPIKEEWYYQIEILKLEIGGQSLNLDCREYNADKAIVDSGTTLLRLPQKVFDAV

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

>97703_97703_11_UTP14A-BACE2_UTP14A_chrX_129059088_ENST00000425117_BACE2_chr21_42598234_ENST00000330333_length(amino acids)=829AA_BP=429
MAAEMTANRLAESLLALSQQEELADLPKDYLLSESEDEGDNDGERKHQKLLEAISSLDGKNRRKLAERSEASLKVSEFNVSSEGSGEKLV
LADLLEPVKTSSSLATVKKQLSRVKSKKTVELPLNKEEIERARTPLEQEIFNLLHKNKQPVTDPLLTPVEKASLRAMSLEEAKMRRAELQ
RARALQSYYEAKARREKKIKSKKYHKVVKKGKAKKALKEFEQLRKVNPAAALEELEKIEKARMMERMSLKHQNSGKWAKSKAIMAKYDLE
ARQAMQEQLSKNKELTQKLQVASESEEEEGGTEDVEELLVPDVVNEVQMNADGPNPWMLRSCTSDTKEAATQEDPEQLPELEAHGVSESE
GEERPVAEEEILLREFEERRSLRKRSELSQDAEPAGSQETKEQMIDLQNLLTTQSPSVKSLAVPTIEELAGTPHSYIDTYFDTERSSTYR
SKGFDVTVKYTQGSWTGFVGEDLVTIPKGFNTSFLVNIATIFESENFFLPGIKWNGILGLAYATLAKPSSSLETFFDSLVTQANIPNVFS
MQMCGAGLPVAGSGTNGGSLVLGGIEPSLYKGDIWYTPIKEEWYYQIEILKLEIGGQSLNLDCREYNADKAIVDSGTTLLRLPQKVFDAV
VEAVARASLIPEFSDGFWTGSQLACWTNSETPWSYFPKISIYLRDENSSRSFRITILPQLYIQPMMGAGLNYECYRFGISPSTNALVIGA
TVMEGFYVIFDRAQKRVGFAASPCAEIAGAAVSEISGPFSTEDVASNCVPAQSLSEPILWIVSYALMSVCGAILLVLIVLLLLPFRCQRR

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>97703_97703_12_UTP14A-BACE2_UTP14A_chrX_129059088_ENST00000425117_BACE2_chr21_42598234_ENST00000347667_length(amino acids)=779AA_BP=429
MAAEMTANRLAESLLALSQQEELADLPKDYLLSESEDEGDNDGERKHQKLLEAISSLDGKNRRKLAERSEASLKVSEFNVSSEGSGEKLV
LADLLEPVKTSSSLATVKKQLSRVKSKKTVELPLNKEEIERARTPLEQEIFNLLHKNKQPVTDPLLTPVEKASLRAMSLEEAKMRRAELQ
RARALQSYYEAKARREKKIKSKKYHKVVKKGKAKKALKEFEQLRKVNPAAALEELEKIEKARMMERMSLKHQNSGKWAKSKAIMAKYDLE
ARQAMQEQLSKNKELTQKLQVASESEEEEGGTEDVEELLVPDVVNEVQMNADGPNPWMLRSCTSDTKEAATQEDPEQLPELEAHGVSESE
GEERPVAEEEILLREFEERRSLRKRSELSQDAEPAGSQETKEQMIDLQNLLTTQSPSVKSLAVPTIEELAGTPHSYIDTYFDTERSSTYR
SKGFDVTVKYTQGSWTGFVGEDLVTIPKGFNTSFLVNIATIFESENFFLPGIKWNGILGLAYATLAKPSSSLETFFDSLVTQANIPNVFS
MQMCGAGLPVAGSGTNGGSLVLGGIEPSLYKGDIWYTPIKEEWYYQIEILKLEIGGQSLNLDCREYNADKAIVDSGTTLLRLPQKVFDAV
VEAVARASLLYIQPMMGAGLNYECYRFGISPSTNALVIGATVMEGFYVIFDRAQKRVGFAASPCAEIAGAAVSEISGPFSTEDVASNCVP

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Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chrX:129059088/chr21:42598234)
- 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
.	BACE2 Q9Y5Z0
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: Responsible for the proteolytic processing of the amyloid precursor protein (APP). Cleaves APP, between residues 690 and 691, leading to the generation and extracellular release of beta-cleaved soluble APP, and a corresponding cell-associated C-terminal fragment which is later released by gamma-secretase. It has also been shown that it can cleave APP between residues 671 and 672. Responsible also for the proteolytic processing of CLTRN in pancreatic beta cells (PubMed:21907142). {ECO:0000269\|PubMed:10591213, ECO:0000269\|PubMed:11083922, ECO:0000269\|PubMed:11423558, ECO:0000269\|PubMed:15857888, ECO:0000269\|PubMed:16816112, ECO:0000269\|PubMed:21907142}.

Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at
download page
* Minus value of BPloci means that the break pointn is located before the CDS.

- Retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Tgene

BACE2

chrX:129059088

chr21:42598234

ENST00000328735

92_429

397.0

Domain

Peptidase A1

Tgene

BACE2

chrX:129059088

chr21:42598234

ENST00000330333

92_429

519.0

Domain

Peptidase A1

Tgene

BACE2

chrX:129059088

chr21:42598234

ENST00000347667

92_429

469.0

Domain

Peptidase A1

Tgene

BACE2

chrX:129059088

chr21:42598234

ENST00000328735

21_473

397.0

Topological domain

Extracellular

Tgene

BACE2

chrX:129059088

chr21:42598234

ENST00000328735

495_518

397.0

Topological domain

Cytoplasmic

Tgene

BACE2

chrX:129059088

chr21:42598234

ENST00000330333

21_473

519.0

Topological domain

Extracellular

Tgene

BACE2

chrX:129059088

chr21:42598234

ENST00000330333

495_518

519.0

Topological domain

Cytoplasmic

Tgene

BACE2

chrX:129059088

chr21:42598234

ENST00000347667

21_473

469.0

Topological domain

Extracellular

Tgene

BACE2

chrX:129059088

chr21:42598234

ENST00000347667

495_518

469.0

Topological domain

Cytoplasmic

Tgene

BACE2

chrX:129059088

chr21:42598234

ENST00000328735

474_494

397.0

Transmembrane

Helical

Tgene

BACE2

chrX:129059088

chr21:42598234

ENST00000330333

474_494

519.0

Transmembrane

Helical

Tgene

BACE2

chrX:129059088

chr21:42598234

ENST00000347667

474_494

469.0

Transmembrane

Helical

- Not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

UTP14A

chrX:129059088

chr21:42598234

ENST00000371042

216_290

0.0

604.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

UTP14A

chrX:129059088

chr21:42598234

ENST00000371042

317_347

0.0

604.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

UTP14A

chrX:129059088

chr21:42598234

ENST00000371042

40_67

0.0

604.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

UTP14A

chrX:129059088

chr21:42598234

ENST00000394422

216_290

772.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

UTP14A

chrX:129059088

chr21:42598234

ENST00000394422

317_347

772.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

UTP14A

chrX:129059088

chr21:42598234

ENST00000394422

40_67

772.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

UTP14A

chrX:129059088

chr21:42598234

ENST00000425117

216_290

720.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

UTP14A

chrX:129059088

chr21:42598234

ENST00000425117

317_347

720.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

UTP14A

chrX:129059088

chr21:42598234

ENST00000425117

40_67

720.0

Coiled coil

Ontology_term=ECO:0000255

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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
UTP14A
BACE2

- 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 UTP14A-BACE2

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 UTP14A-BACE2

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