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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:ETV1-CACNA2D1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: ETV1-CACNA2D1
	FusionPDB ID: 27681
	FusionGDB2.0 ID: 27681
		Hgene	Tgene
	Gene symbol	ETV1	CACNA2D1
	Gene ID	2115	781
	Gene name	ETS variant transcription factor 1	calcium voltage-gated channel auxiliary subunit alpha2delta 1
	Synonyms	ER81	CACNA2\|CACNL2A\|CCHL2A\|LINC01112\|lncRNA-N3
	Cytomap	7p21.2	7q21.11
	Type of gene	protein-coding	protein-coding
	Description	ETS translocation variant 1ETS variant 1ets variant gene 1ets-related protein 81	voltage-dependent calcium channel subunit alpha-2/delta-1calcium channel, L type, alpha 2 polypeptidecalcium channel, voltage-dependent, alpha 2/delta subunit 1dihydropyridine-sensitive L-type, calcium channel alpha-2/delta subunitvoltage-gated calciu
	Modification date	20200313	20200313
	UniProtAcc	P50549	P54289
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000399357, ENST00000403527, ENST00000405192, ENST00000405218, ENST00000405358, ENST00000430479, ENST00000476720, ENST00000242066, ENST00000343495, ENST00000403685, ENST00000420159,	ENST00000464354, ENST00000535308, ENST00000356253, ENST00000356860, ENST00000423588,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	3 X 3 X 2=18	7 X 10 X 3=210
	# samples	3	10
	** MAII score	log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(10/210*10)=-1.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: ETV1 [Title/Abstract] AND CACNA2D1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	ETV1(14017052)-CACNA2D1(81695840), # samples:2
Anticipated loss of major functional domain due to fusion event.	ETV1-CACNA2D1 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. ETV1-CACNA2D1 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. ETV1-CACNA2D1 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. ETV1-CACNA2D1 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. ETV1-CACNA2D1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. ETV1-CACNA2D1 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF. ETV1-CACNA2D1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.

* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	ETV1	GO:0045944	positive regulation of transcription by RNA polymerase II	12750007
Tgene	CACNA2D1	GO:0006816	calcium ion transport	1309651\|11160515
Tgene	CACNA2D1	GO:0051924	regulation of calcium ion transport	1309651

Fusion gene breakpoints across ETV1 (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 CACNA2D1 (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	SARC	TCGA-3B-A9HV-01A	ETV1	chr7	14017052	-	CACNA2D1	chr7	81695840	-

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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)
ENST00000399357	ETV1	chr7	14017052	-	ENST00000356860	CACNA2D1	chr7	81695840	-	7019	453	338	3070	910
ENST00000399357	ETV1	chr7	14017052	-	ENST00000356253	CACNA2D1	chr7	81695840	-	3397	453	338	3106	922
ENST00000399357	ETV1	chr7	14017052	-	ENST00000423588	CACNA2D1	chr7	81695840	-	967	453	338	724	128
ENST00000405192	ETV1	chr7	14017052	-	ENST00000356860	CACNA2D1	chr7	81695840	-	7002	436	177	3053	958
ENST00000405192	ETV1	chr7	14017052	-	ENST00000356253	CACNA2D1	chr7	81695840	-	3380	436	177	3089	970
ENST00000405192	ETV1	chr7	14017052	-	ENST00000423588	CACNA2D1	chr7	81695840	-	950	436	177	707	176
ENST00000405358	ETV1	chr7	14017052	-	ENST00000356860	CACNA2D1	chr7	81695840	-	6950	384	68	3001	977
ENST00000405358	ETV1	chr7	14017052	-	ENST00000356253	CACNA2D1	chr7	81695840	-	3328	384	68	3037	989
ENST00000405358	ETV1	chr7	14017052	-	ENST00000423588	CACNA2D1	chr7	81695840	-	898	384	68	655	195
ENST00000403527	ETV1	chr7	14017052	-	ENST00000356860	CACNA2D1	chr7	81695840	-	7019	453	338	3070	910
ENST00000403527	ETV1	chr7	14017052	-	ENST00000356253	CACNA2D1	chr7	81695840	-	3397	453	338	3106	922
ENST00000403527	ETV1	chr7	14017052	-	ENST00000423588	CACNA2D1	chr7	81695840	-	967	453	338	724	128
ENST00000405218	ETV1	chr7	14017052	-	ENST00000356860	CACNA2D1	chr7	81695840	-	7273	707	448	3324	958
ENST00000405218	ETV1	chr7	14017052	-	ENST00000356253	CACNA2D1	chr7	81695840	-	3651	707	448	3360	970
ENST00000405218	ETV1	chr7	14017052	-	ENST00000423588	CACNA2D1	chr7	81695840	-	1221	707	448	978	176

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
ENST00000399357	ENST00000356860	ETV1	chr7	14017052	-	CACNA2D1	chr7	81695840	-	4.86E-05	0.99995136
ENST00000399357	ENST00000356253	ETV1	chr7	14017052	-	CACNA2D1	chr7	81695840	-	9.33E-05	0.99990666
ENST00000399357	ENST00000423588	ETV1	chr7	14017052	-	CACNA2D1	chr7	81695840	-	0.01168967	0.98831034
ENST00000405192	ENST00000356860	ETV1	chr7	14017052	-	CACNA2D1	chr7	81695840	-	3.48E-05	0.9999652
ENST00000405192	ENST00000356253	ETV1	chr7	14017052	-	CACNA2D1	chr7	81695840	-	0.000101427	0.99989855
ENST00000405192	ENST00000423588	ETV1	chr7	14017052	-	CACNA2D1	chr7	81695840	-	0.003890677	0.9961093
ENST00000405358	ENST00000356860	ETV1	chr7	14017052	-	CACNA2D1	chr7	81695840	-	1.98E-05	0.9999802
ENST00000405358	ENST00000356253	ETV1	chr7	14017052	-	CACNA2D1	chr7	81695840	-	6.77E-05	0.9999323
ENST00000405358	ENST00000423588	ETV1	chr7	14017052	-	CACNA2D1	chr7	81695840	-	0.001667219	0.9983328
ENST00000403527	ENST00000356860	ETV1	chr7	14017052	-	CACNA2D1	chr7	81695840	-	4.86E-05	0.99995136
ENST00000403527	ENST00000356253	ETV1	chr7	14017052	-	CACNA2D1	chr7	81695840	-	9.33E-05	0.99990666
ENST00000403527	ENST00000423588	ETV1	chr7	14017052	-	CACNA2D1	chr7	81695840	-	0.01168967	0.98831034
ENST00000405218	ENST00000356860	ETV1	chr7	14017052	-	CACNA2D1	chr7	81695840	-	3.86E-05	0.9999614
ENST00000405218	ENST00000356253	ETV1	chr7	14017052	-	CACNA2D1	chr7	81695840	-	0.000129639	0.9998703
ENST00000405218	ENST00000423588	ETV1	chr7	14017052	-	CACNA2D1	chr7	81695840	-	0.004022338	0.9959777

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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

>27681_27681_1_ETV1-CACNA2D1_ETV1_chr7_14017052_ENST00000399357_CACNA2D1_chr7_81695840_ENST00000356253_length(amino acids)=922AA_BP=39
MLQDLSASVFFPPCSQHRTLAQVPDNDEQFVPDYQAESSSPWVDNSRTPNKIDLYDVRRRPWYIQGAASPKDMLILVDVSGSVSGLTLKL
IRTSVSEMLETLSDDDFVNVASFNSNAQDVSCFQHLVQANVRNKKVLKDAVNNITAKGITDYKKGFSFAFEQLLNYNVSRANCNKIIMLF
TDGGEERAQEIFNKYNKDKKVRVFTFSVGQHNYDRGPIQWMACENKGYYYEIPSIGAIRINTQEYLDVLGRPMVLAGDKAKQVQWTNVYL
DALELGLVITGTLPVFNITGQFENKTNLKNQLILGVMGVDVSLEDIKRLTPRFTLCPNGYYFAIDPNGYVLLHPNLQPKPIGVGIPTINL
RKRRPNIQNPKSQEPVTLDFLDAELENDIKVEIRNKMIDGESGEKTFRTLVKSQDERYIDKGNRTYTWTPVNGTDYSLALVLPTYSFYYI
KAKLEETITQARYSETLKPDNFEESGYTFIAPRDYCNDLKISDNNTEFLLNFNEFIDRKTPNNPSCNADLINRVLLDAGFTNELVQNYWS
KQKNIKGVKARFVVTDGGITRVYPKEAGENWQENPETYEDSFYKRSLDNDNYVFTAPYFNKSGPGAYESGIMVSKAVEIYIQGKLLKPAV
VGIKIDVNSWIENFTKTSIRDPCAGPVCDCKRNSDVMDCVILDDGGFLLMANHDDYTNQIGRFFGEIDPSLMRHLVNISVYAFNKSYDYQ
SVCEPGAAPKQGAGHRSAYVPSVADILQIGWWATAAAWSILQQFLLSLTFPRLLEAVEMEDDDFTASLSKQSCITEQTQYFFDNDSKSFS
GVLDCGNCSRIFHGEKLMNTNLIFIMVESKGTCPCDTRLLIQAEQTSDGPNPCDMVKQPRYRKGPDVCFDNNVLEDYTDCGGVSGLNPSL

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>27681_27681_2_ETV1-CACNA2D1_ETV1_chr7_14017052_ENST00000399357_CACNA2D1_chr7_81695840_ENST00000356860_length(amino acids)=910AA_BP=39
MLQDLSASVFFPPCSQHRTLAQVPDNDEQFVPDYQAESSSPWVDNSRTPNKIDLYDVRRRPWYIQGAASPKDMLILVDVSGSVSGLTLKL
IRTSVSEMLETLSDDDFVNVASFNSNAQDVSCFQHLVQANVRNKKVLKDAVNNITAKGITDYKKGFSFAFEQLLNYNVSRANCNKIIMLF
TDGGEERAQEIFNKYNKDKKVRVFTFSVGQHNYDRGPIQWMACENKGYYYEIPSIGAIRINTQEYLDVLGRPMVLAGDKAKQVQWTNVYL
DALELGLVITGTLPVFNITGQFENKTNLKNQLILGVMGVDVSLEDIKRLTPRFTLCPNGYYFAIDPNGYVLLHPNLQPKNPKSQEPVTLD
FLDAELENDIKVEIRNKMIDGESGEKTFRTLVKSQDERYIDKGNRTYTWTPVNGTDYSLALVLPTYSFYYIKAKLEETITQARSKKGKMK
DSETLKPDNFEESGYTFIAPRDYCNDLKISDNNTEFLLNFNEFIDRKTPNNPSCNADLINRVLLDAGFTNELVQNYWSKQKNIKGVKARF
VVTDGGITRVYPKEAGENWQENPETYEDSFYKRSLDNDNYVFTAPYFNKSGPGAYESGIMVSKAVEIYIQGKLLKPAVVGIKIDVNSWIE
NFTKTSIRDPCAGPVCDCKRNSDVMDCVILDDGGFLLMANHDDYTNQIGRFFGEIDPSLMRHLVNISVYAFNKSYDYQSVCEPGAAPKQG
AGHRSAYVPSVADILQIGWWATAAAWSILQQFLLSLTFPRLLEAVEMEDDDFTASLSKQSCITEQTQYFFDNDSKSFSGVLDCGNCSRIF
HGEKLMNTNLIFIMVESKGTCPCDTRLLIQAEQTSDGPNPCDMVKQPRYRKGPDVCFDNNVLEDYTDCGGVSGLNPSLWYIIGIQFLLLW

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

>27681_27681_3_ETV1-CACNA2D1_ETV1_chr7_14017052_ENST00000399357_CACNA2D1_chr7_81695840_ENST00000423588_length(amino acids)=128AA_BP=39
MLQDLSASVFFPPCSQHRTLAQVPDNDEQFVPDYQAESSSPWVDNSRTPNKIDLYDVRRRPWYIQGAASPKDMLILVDVSGSVSGLTLKL

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>27681_27681_4_ETV1-CACNA2D1_ETV1_chr7_14017052_ENST00000403527_CACNA2D1_chr7_81695840_ENST00000356253_length(amino acids)=922AA_BP=39
MLQDLSASVFFPPCSQHRTLAQVPDNDEQFVPDYQAESSSPWVDNSRTPNKIDLYDVRRRPWYIQGAASPKDMLILVDVSGSVSGLTLKL
IRTSVSEMLETLSDDDFVNVASFNSNAQDVSCFQHLVQANVRNKKVLKDAVNNITAKGITDYKKGFSFAFEQLLNYNVSRANCNKIIMLF
TDGGEERAQEIFNKYNKDKKVRVFTFSVGQHNYDRGPIQWMACENKGYYYEIPSIGAIRINTQEYLDVLGRPMVLAGDKAKQVQWTNVYL
DALELGLVITGTLPVFNITGQFENKTNLKNQLILGVMGVDVSLEDIKRLTPRFTLCPNGYYFAIDPNGYVLLHPNLQPKPIGVGIPTINL
RKRRPNIQNPKSQEPVTLDFLDAELENDIKVEIRNKMIDGESGEKTFRTLVKSQDERYIDKGNRTYTWTPVNGTDYSLALVLPTYSFYYI
KAKLEETITQARYSETLKPDNFEESGYTFIAPRDYCNDLKISDNNTEFLLNFNEFIDRKTPNNPSCNADLINRVLLDAGFTNELVQNYWS
KQKNIKGVKARFVVTDGGITRVYPKEAGENWQENPETYEDSFYKRSLDNDNYVFTAPYFNKSGPGAYESGIMVSKAVEIYIQGKLLKPAV
VGIKIDVNSWIENFTKTSIRDPCAGPVCDCKRNSDVMDCVILDDGGFLLMANHDDYTNQIGRFFGEIDPSLMRHLVNISVYAFNKSYDYQ
SVCEPGAAPKQGAGHRSAYVPSVADILQIGWWATAAAWSILQQFLLSLTFPRLLEAVEMEDDDFTASLSKQSCITEQTQYFFDNDSKSFS
GVLDCGNCSRIFHGEKLMNTNLIFIMVESKGTCPCDTRLLIQAEQTSDGPNPCDMVKQPRYRKGPDVCFDNNVLEDYTDCGGVSGLNPSL

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>27681_27681_5_ETV1-CACNA2D1_ETV1_chr7_14017052_ENST00000403527_CACNA2D1_chr7_81695840_ENST00000356860_length(amino acids)=910AA_BP=39
MLQDLSASVFFPPCSQHRTLAQVPDNDEQFVPDYQAESSSPWVDNSRTPNKIDLYDVRRRPWYIQGAASPKDMLILVDVSGSVSGLTLKL
IRTSVSEMLETLSDDDFVNVASFNSNAQDVSCFQHLVQANVRNKKVLKDAVNNITAKGITDYKKGFSFAFEQLLNYNVSRANCNKIIMLF
TDGGEERAQEIFNKYNKDKKVRVFTFSVGQHNYDRGPIQWMACENKGYYYEIPSIGAIRINTQEYLDVLGRPMVLAGDKAKQVQWTNVYL
DALELGLVITGTLPVFNITGQFENKTNLKNQLILGVMGVDVSLEDIKRLTPRFTLCPNGYYFAIDPNGYVLLHPNLQPKNPKSQEPVTLD
FLDAELENDIKVEIRNKMIDGESGEKTFRTLVKSQDERYIDKGNRTYTWTPVNGTDYSLALVLPTYSFYYIKAKLEETITQARSKKGKMK
DSETLKPDNFEESGYTFIAPRDYCNDLKISDNNTEFLLNFNEFIDRKTPNNPSCNADLINRVLLDAGFTNELVQNYWSKQKNIKGVKARF
VVTDGGITRVYPKEAGENWQENPETYEDSFYKRSLDNDNYVFTAPYFNKSGPGAYESGIMVSKAVEIYIQGKLLKPAVVGIKIDVNSWIE
NFTKTSIRDPCAGPVCDCKRNSDVMDCVILDDGGFLLMANHDDYTNQIGRFFGEIDPSLMRHLVNISVYAFNKSYDYQSVCEPGAAPKQG
AGHRSAYVPSVADILQIGWWATAAAWSILQQFLLSLTFPRLLEAVEMEDDDFTASLSKQSCITEQTQYFFDNDSKSFSGVLDCGNCSRIF
HGEKLMNTNLIFIMVESKGTCPCDTRLLIQAEQTSDGPNPCDMVKQPRYRKGPDVCFDNNVLEDYTDCGGVSGLNPSLWYIIGIQFLLLW

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

>27681_27681_6_ETV1-CACNA2D1_ETV1_chr7_14017052_ENST00000403527_CACNA2D1_chr7_81695840_ENST00000423588_length(amino acids)=128AA_BP=39
MLQDLSASVFFPPCSQHRTLAQVPDNDEQFVPDYQAESSSPWVDNSRTPNKIDLYDVRRRPWYIQGAASPKDMLILVDVSGSVSGLTLKL

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

>27681_27681_7_ETV1-CACNA2D1_ETV1_chr7_14017052_ENST00000405192_CACNA2D1_chr7_81695840_ENST00000356253_length(amino acids)=970AA_BP=87
MRFAKSSSMDGFYDQQVPYMVTNSQRGRNCNEKPTNVRKRKFINRDLAHDSEELFQDLSQLQETWLAEAQVPDNDEQFVPDYQAESSSPW
VDNSRTPNKIDLYDVRRRPWYIQGAASPKDMLILVDVSGSVSGLTLKLIRTSVSEMLETLSDDDFVNVASFNSNAQDVSCFQHLVQANVR
NKKVLKDAVNNITAKGITDYKKGFSFAFEQLLNYNVSRANCNKIIMLFTDGGEERAQEIFNKYNKDKKVRVFTFSVGQHNYDRGPIQWMA
CENKGYYYEIPSIGAIRINTQEYLDVLGRPMVLAGDKAKQVQWTNVYLDALELGLVITGTLPVFNITGQFENKTNLKNQLILGVMGVDVS
LEDIKRLTPRFTLCPNGYYFAIDPNGYVLLHPNLQPKPIGVGIPTINLRKRRPNIQNPKSQEPVTLDFLDAELENDIKVEIRNKMIDGES
GEKTFRTLVKSQDERYIDKGNRTYTWTPVNGTDYSLALVLPTYSFYYIKAKLEETITQARYSETLKPDNFEESGYTFIAPRDYCNDLKIS
DNNTEFLLNFNEFIDRKTPNNPSCNADLINRVLLDAGFTNELVQNYWSKQKNIKGVKARFVVTDGGITRVYPKEAGENWQENPETYEDSF
YKRSLDNDNYVFTAPYFNKSGPGAYESGIMVSKAVEIYIQGKLLKPAVVGIKIDVNSWIENFTKTSIRDPCAGPVCDCKRNSDVMDCVIL
DDGGFLLMANHDDYTNQIGRFFGEIDPSLMRHLVNISVYAFNKSYDYQSVCEPGAAPKQGAGHRSAYVPSVADILQIGWWATAAAWSILQ
QFLLSLTFPRLLEAVEMEDDDFTASLSKQSCITEQTQYFFDNDSKSFSGVLDCGNCSRIFHGEKLMNTNLIFIMVESKGTCPCDTRLLIQ

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>27681_27681_8_ETV1-CACNA2D1_ETV1_chr7_14017052_ENST00000405192_CACNA2D1_chr7_81695840_ENST00000356860_length(amino acids)=958AA_BP=87
MRFAKSSSMDGFYDQQVPYMVTNSQRGRNCNEKPTNVRKRKFINRDLAHDSEELFQDLSQLQETWLAEAQVPDNDEQFVPDYQAESSSPW
VDNSRTPNKIDLYDVRRRPWYIQGAASPKDMLILVDVSGSVSGLTLKLIRTSVSEMLETLSDDDFVNVASFNSNAQDVSCFQHLVQANVR
NKKVLKDAVNNITAKGITDYKKGFSFAFEQLLNYNVSRANCNKIIMLFTDGGEERAQEIFNKYNKDKKVRVFTFSVGQHNYDRGPIQWMA
CENKGYYYEIPSIGAIRINTQEYLDVLGRPMVLAGDKAKQVQWTNVYLDALELGLVITGTLPVFNITGQFENKTNLKNQLILGVMGVDVS
LEDIKRLTPRFTLCPNGYYFAIDPNGYVLLHPNLQPKNPKSQEPVTLDFLDAELENDIKVEIRNKMIDGESGEKTFRTLVKSQDERYIDK
GNRTYTWTPVNGTDYSLALVLPTYSFYYIKAKLEETITQARSKKGKMKDSETLKPDNFEESGYTFIAPRDYCNDLKISDNNTEFLLNFNE
FIDRKTPNNPSCNADLINRVLLDAGFTNELVQNYWSKQKNIKGVKARFVVTDGGITRVYPKEAGENWQENPETYEDSFYKRSLDNDNYVF
TAPYFNKSGPGAYESGIMVSKAVEIYIQGKLLKPAVVGIKIDVNSWIENFTKTSIRDPCAGPVCDCKRNSDVMDCVILDDGGFLLMANHD
DYTNQIGRFFGEIDPSLMRHLVNISVYAFNKSYDYQSVCEPGAAPKQGAGHRSAYVPSVADILQIGWWATAAAWSILQQFLLSLTFPRLL
EAVEMEDDDFTASLSKQSCITEQTQYFFDNDSKSFSGVLDCGNCSRIFHGEKLMNTNLIFIMVESKGTCPCDTRLLIQAEQTSDGPNPCD

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>27681_27681_9_ETV1-CACNA2D1_ETV1_chr7_14017052_ENST00000405192_CACNA2D1_chr7_81695840_ENST00000423588_length(amino acids)=176AA_BP=87
MRFAKSSSMDGFYDQQVPYMVTNSQRGRNCNEKPTNVRKRKFINRDLAHDSEELFQDLSQLQETWLAEAQVPDNDEQFVPDYQAESSSPW

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>27681_27681_10_ETV1-CACNA2D1_ETV1_chr7_14017052_ENST00000405218_CACNA2D1_chr7_81695840_ENST00000356253_length(amino acids)=970AA_BP=87
MRFAKSSSMDGFYDQQVPYMVTNSQRGRNCNEKPTNVRKRKFINRDLAHDSEELFQDLSQLQETWLAEAQVPDNDEQFVPDYQAESSSPW
VDNSRTPNKIDLYDVRRRPWYIQGAASPKDMLILVDVSGSVSGLTLKLIRTSVSEMLETLSDDDFVNVASFNSNAQDVSCFQHLVQANVR
NKKVLKDAVNNITAKGITDYKKGFSFAFEQLLNYNVSRANCNKIIMLFTDGGEERAQEIFNKYNKDKKVRVFTFSVGQHNYDRGPIQWMA
CENKGYYYEIPSIGAIRINTQEYLDVLGRPMVLAGDKAKQVQWTNVYLDALELGLVITGTLPVFNITGQFENKTNLKNQLILGVMGVDVS
LEDIKRLTPRFTLCPNGYYFAIDPNGYVLLHPNLQPKPIGVGIPTINLRKRRPNIQNPKSQEPVTLDFLDAELENDIKVEIRNKMIDGES
GEKTFRTLVKSQDERYIDKGNRTYTWTPVNGTDYSLALVLPTYSFYYIKAKLEETITQARYSETLKPDNFEESGYTFIAPRDYCNDLKIS
DNNTEFLLNFNEFIDRKTPNNPSCNADLINRVLLDAGFTNELVQNYWSKQKNIKGVKARFVVTDGGITRVYPKEAGENWQENPETYEDSF
YKRSLDNDNYVFTAPYFNKSGPGAYESGIMVSKAVEIYIQGKLLKPAVVGIKIDVNSWIENFTKTSIRDPCAGPVCDCKRNSDVMDCVIL
DDGGFLLMANHDDYTNQIGRFFGEIDPSLMRHLVNISVYAFNKSYDYQSVCEPGAAPKQGAGHRSAYVPSVADILQIGWWATAAAWSILQ
QFLLSLTFPRLLEAVEMEDDDFTASLSKQSCITEQTQYFFDNDSKSFSGVLDCGNCSRIFHGEKLMNTNLIFIMVESKGTCPCDTRLLIQ

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>27681_27681_11_ETV1-CACNA2D1_ETV1_chr7_14017052_ENST00000405218_CACNA2D1_chr7_81695840_ENST00000356860_length(amino acids)=958AA_BP=87
MRFAKSSSMDGFYDQQVPYMVTNSQRGRNCNEKPTNVRKRKFINRDLAHDSEELFQDLSQLQETWLAEAQVPDNDEQFVPDYQAESSSPW
VDNSRTPNKIDLYDVRRRPWYIQGAASPKDMLILVDVSGSVSGLTLKLIRTSVSEMLETLSDDDFVNVASFNSNAQDVSCFQHLVQANVR
NKKVLKDAVNNITAKGITDYKKGFSFAFEQLLNYNVSRANCNKIIMLFTDGGEERAQEIFNKYNKDKKVRVFTFSVGQHNYDRGPIQWMA
CENKGYYYEIPSIGAIRINTQEYLDVLGRPMVLAGDKAKQVQWTNVYLDALELGLVITGTLPVFNITGQFENKTNLKNQLILGVMGVDVS
LEDIKRLTPRFTLCPNGYYFAIDPNGYVLLHPNLQPKNPKSQEPVTLDFLDAELENDIKVEIRNKMIDGESGEKTFRTLVKSQDERYIDK
GNRTYTWTPVNGTDYSLALVLPTYSFYYIKAKLEETITQARSKKGKMKDSETLKPDNFEESGYTFIAPRDYCNDLKISDNNTEFLLNFNE
FIDRKTPNNPSCNADLINRVLLDAGFTNELVQNYWSKQKNIKGVKARFVVTDGGITRVYPKEAGENWQENPETYEDSFYKRSLDNDNYVF
TAPYFNKSGPGAYESGIMVSKAVEIYIQGKLLKPAVVGIKIDVNSWIENFTKTSIRDPCAGPVCDCKRNSDVMDCVILDDGGFLLMANHD
DYTNQIGRFFGEIDPSLMRHLVNISVYAFNKSYDYQSVCEPGAAPKQGAGHRSAYVPSVADILQIGWWATAAAWSILQQFLLSLTFPRLL
EAVEMEDDDFTASLSKQSCITEQTQYFFDNDSKSFSGVLDCGNCSRIFHGEKLMNTNLIFIMVESKGTCPCDTRLLIQAEQTSDGPNPCD

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

>27681_27681_12_ETV1-CACNA2D1_ETV1_chr7_14017052_ENST00000405218_CACNA2D1_chr7_81695840_ENST00000423588_length(amino acids)=176AA_BP=87
MRFAKSSSMDGFYDQQVPYMVTNSQRGRNCNEKPTNVRKRKFINRDLAHDSEELFQDLSQLQETWLAEAQVPDNDEQFVPDYQAESSSPW

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

>27681_27681_13_ETV1-CACNA2D1_ETV1_chr7_14017052_ENST00000405358_CACNA2D1_chr7_81695840_ENST00000356253_length(amino acids)=989AA_BP=106
MFLRPLFLIKVPNMSGRGDGGQQQLLHSKFLAGFVCHIEKNESQRGRNCNEKPTNVRKRKFINRDLAHDSEELFQDLSQLQETWLAEAQV
PDNDEQFVPDYQAESSSPWVDNSRTPNKIDLYDVRRRPWYIQGAASPKDMLILVDVSGSVSGLTLKLIRTSVSEMLETLSDDDFVNVASF
NSNAQDVSCFQHLVQANVRNKKVLKDAVNNITAKGITDYKKGFSFAFEQLLNYNVSRANCNKIIMLFTDGGEERAQEIFNKYNKDKKVRV
FTFSVGQHNYDRGPIQWMACENKGYYYEIPSIGAIRINTQEYLDVLGRPMVLAGDKAKQVQWTNVYLDALELGLVITGTLPVFNITGQFE
NKTNLKNQLILGVMGVDVSLEDIKRLTPRFTLCPNGYYFAIDPNGYVLLHPNLQPKPIGVGIPTINLRKRRPNIQNPKSQEPVTLDFLDA
ELENDIKVEIRNKMIDGESGEKTFRTLVKSQDERYIDKGNRTYTWTPVNGTDYSLALVLPTYSFYYIKAKLEETITQARYSETLKPDNFE
ESGYTFIAPRDYCNDLKISDNNTEFLLNFNEFIDRKTPNNPSCNADLINRVLLDAGFTNELVQNYWSKQKNIKGVKARFVVTDGGITRVY
PKEAGENWQENPETYEDSFYKRSLDNDNYVFTAPYFNKSGPGAYESGIMVSKAVEIYIQGKLLKPAVVGIKIDVNSWIENFTKTSIRDPC
AGPVCDCKRNSDVMDCVILDDGGFLLMANHDDYTNQIGRFFGEIDPSLMRHLVNISVYAFNKSYDYQSVCEPGAAPKQGAGHRSAYVPSV
ADILQIGWWATAAAWSILQQFLLSLTFPRLLEAVEMEDDDFTASLSKQSCITEQTQYFFDNDSKSFSGVLDCGNCSRIFHGEKLMNTNLI

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

>27681_27681_14_ETV1-CACNA2D1_ETV1_chr7_14017052_ENST00000405358_CACNA2D1_chr7_81695840_ENST00000356860_length(amino acids)=977AA_BP=106
MFLRPLFLIKVPNMSGRGDGGQQQLLHSKFLAGFVCHIEKNESQRGRNCNEKPTNVRKRKFINRDLAHDSEELFQDLSQLQETWLAEAQV
PDNDEQFVPDYQAESSSPWVDNSRTPNKIDLYDVRRRPWYIQGAASPKDMLILVDVSGSVSGLTLKLIRTSVSEMLETLSDDDFVNVASF
NSNAQDVSCFQHLVQANVRNKKVLKDAVNNITAKGITDYKKGFSFAFEQLLNYNVSRANCNKIIMLFTDGGEERAQEIFNKYNKDKKVRV
FTFSVGQHNYDRGPIQWMACENKGYYYEIPSIGAIRINTQEYLDVLGRPMVLAGDKAKQVQWTNVYLDALELGLVITGTLPVFNITGQFE
NKTNLKNQLILGVMGVDVSLEDIKRLTPRFTLCPNGYYFAIDPNGYVLLHPNLQPKNPKSQEPVTLDFLDAELENDIKVEIRNKMIDGES
GEKTFRTLVKSQDERYIDKGNRTYTWTPVNGTDYSLALVLPTYSFYYIKAKLEETITQARSKKGKMKDSETLKPDNFEESGYTFIAPRDY
CNDLKISDNNTEFLLNFNEFIDRKTPNNPSCNADLINRVLLDAGFTNELVQNYWSKQKNIKGVKARFVVTDGGITRVYPKEAGENWQENP
ETYEDSFYKRSLDNDNYVFTAPYFNKSGPGAYESGIMVSKAVEIYIQGKLLKPAVVGIKIDVNSWIENFTKTSIRDPCAGPVCDCKRNSD
VMDCVILDDGGFLLMANHDDYTNQIGRFFGEIDPSLMRHLVNISVYAFNKSYDYQSVCEPGAAPKQGAGHRSAYVPSVADILQIGWWATA
AAWSILQQFLLSLTFPRLLEAVEMEDDDFTASLSKQSCITEQTQYFFDNDSKSFSGVLDCGNCSRIFHGEKLMNTNLIFIMVESKGTCPC

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

>27681_27681_15_ETV1-CACNA2D1_ETV1_chr7_14017052_ENST00000405358_CACNA2D1_chr7_81695840_ENST00000423588_length(amino acids)=195AA_BP=106
MFLRPLFLIKVPNMSGRGDGGQQQLLHSKFLAGFVCHIEKNESQRGRNCNEKPTNVRKRKFINRDLAHDSEELFQDLSQLQETWLAEAQV
PDNDEQFVPDYQAESSSPWVDNSRTPNKIDLYDVRRRPWYIQGAASPKDMLILVDVSGSVSGLTLKLIRTSVSEMLETLSDDDFVNVASD

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

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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/chr7:14017052/chr7:81695840)
- 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
ETV1 P50549	CACNA2D1 P54289
FUNCTION: Transcriptional activator that binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3' (PubMed:7651741). Required for olfactory dopaminergic neuron differentiation; may directly activate expression of tyrosine hydroxylase (TH) (By similarity). {ECO:0000250\|UniProtKB:P41164, ECO:0000269\|PubMed:7651741}.	FUNCTION: The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Plays an important role in excitation-contraction coupling (By similarity). {ECO:0000250}.

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

CACNA2D1

chr7:14017052

chr7:81695840

ENST00000356253

253_430

219.33333333333334

1104.0

Domain

VWFA

Tgene

CACNA2D1

chr7:14017052

chr7:81695840

ENST00000356253

446_556

219.33333333333334

1104.0

Domain

Note=Cache

Tgene

CACNA2D1

chr7:14017052

chr7:81695840

ENST00000356860

253_430

219.33333333333334

1092.0

Domain

VWFA

Tgene

CACNA2D1

chr7:14017052

chr7:81695840

ENST00000356860

446_556

219.33333333333334

1092.0

Domain

Note=Cache

Tgene

CACNA2D1

chr7:14017052

chr7:81695840

ENST00000356253

259_263

219.33333333333334

1104.0

Motif

Note=MIDAS-like motif

Tgene

CACNA2D1

chr7:14017052

chr7:81695840

ENST00000356860

259_263

219.33333333333334

1092.0

Motif

Note=MIDAS-like motif

Tgene

CACNA2D1

chr7:14017052

chr7:81695840

ENST00000356253

1095_1103

219.33333333333334

1104.0

Topological domain

Cytoplasmic

Tgene

CACNA2D1

chr7:14017052

chr7:81695840

ENST00000356860

1095_1103

219.33333333333334

1092.0

Topological domain

Cytoplasmic

Tgene

CACNA2D1

chr7:14017052

chr7:81695840

ENST00000356253

1074_1094

219.33333333333334

1104.0

Transmembrane

Helical

Tgene

CACNA2D1

chr7:14017052

chr7:81695840

ENST00000356860

1074_1094

219.33333333333334

1092.0

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

ETV1

chr7:14017052

chr7:81695840

ENST00000242066

335_415

460.0

DNA binding

ETS

Hgene

ETV1

chr7:14017052

chr7:81695840

ENST00000343495

335_415

460.0

DNA binding

ETS

Hgene

ETV1

chr7:14017052

chr7:81695840

ENST00000399357

335_415

38.333333333333336

375.0

DNA binding

ETS

Hgene

ETV1

chr7:14017052

chr7:81695840

ENST00000403527

335_415

38.333333333333336

438.0

DNA binding

ETS

Hgene

ETV1

chr7:14017052

chr7:81695840

ENST00000403685

335_415

460.0

DNA binding

ETS

Hgene

ETV1

chr7:14017052

chr7:81695840

ENST00000405192

335_415

78.33333333333333

455.0

DNA binding

ETS

Hgene

ETV1

chr7:14017052

chr7:81695840

ENST00000405218

335_415

78.33333333333333

478.0

DNA binding

ETS

Hgene

ETV1

chr7:14017052

chr7:81695840

ENST00000420159

335_415

420.0

DNA binding

ETS

Hgene

ETV1

chr7:14017052

chr7:81695840

ENST00000430479

335_415

78.33333333333333

478.0

DNA binding

ETS

Tgene

CACNA2D1

chr7:14017052

chr7:81695840

ENST00000356253

25_1073

219.33333333333334

1104.0

Topological domain

Extracellular

Tgene

CACNA2D1

chr7:14017052

chr7:81695840

ENST00000356860

25_1073

219.33333333333334

1092.0

Topological domain

Extracellular

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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
ETV1
CACNA2D1

- 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 ETV1-CACNA2D1

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 ETV1-CACNA2D1

Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	ETV1	C0033578	Prostatic Neoplasms	3	CTD_human
Hgene	ETV1	C0376358	Malignant neoplasm of prostate	3	CTD_human
Hgene	ETV1	C0009402	Colorectal Carcinoma	1	CTD_human
Hgene	ETV1	C0009404	Colorectal Neoplasms	1	CTD_human