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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:ACVRL1-SLC43A2

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: ACVRL1-SLC43A2
	FusionPDB ID: 1915
	FusionGDB2.0 ID: 1915
		Hgene	Tgene
	Gene symbol	ACVRL1	SLC43A2
	Gene ID	94	124935
	Gene name	activin A receptor like type 1	solute carrier family 43 member 2
	Synonyms	ACVRLK1\|ALK-1\|ALK1\|HHT\|HHT2\|ORW2\|SKR3\|TSR-I	LAT4
	Cytomap	12q13.13	17p13.3
	Type of gene	protein-coding	protein-coding
	Description	serine/threonine-protein kinase receptor R3TGF-B superfamily receptor type Iactivin A receptor type II-like 1activin A receptor type ILactivin A receptor, type II-like kinase 1	large neutral amino acids transporter small subunit 4L-type amino acid transporter 4solute carrier family 43 (amino acid system L transporter), member 2
	Modification date	20200329	20200313
	UniProtAcc	P37023	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000388922, ENST00000419526, ENST00000550683, ENST00000550084,	ENST00000574274, ENST00000301335, ENST00000382147, ENST00000412517, ENST00000571650,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	4 X 4 X 2=32	10 X 10 X 6=600
	# samples	4	16
	** MAII score	log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(16/600*10)=-1.90689059560852 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: ACVRL1 [Title/Abstract] AND SLC43A2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	ACVRL1(52312899)-SLC43A2(1481617), # samples:1
Anticipated loss of major functional domain due to fusion event.	ACVRL1-SLC43A2 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. ACVRL1-SLC43A2 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. ACVRL1-SLC43A2 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. ACVRL1-SLC43A2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.

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

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

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	ACVRL1	GO:0006468	protein phosphorylation	12065756
Hgene	ACVRL1	GO:0007165	signal transduction	15702480
Hgene	ACVRL1	GO:0007179	transforming growth factor beta receptor signaling pathway	15702480
Hgene	ACVRL1	GO:0010596	negative regulation of endothelial cell migration	17068149
Hgene	ACVRL1	GO:0030308	negative regulation of cell growth	17068149
Hgene	ACVRL1	GO:0030513	positive regulation of BMP signaling pathway	17068149
Hgene	ACVRL1	GO:0045893	positive regulation of transcription, DNA-templated	12393874
Hgene	ACVRL1	GO:0045944	positive regulation of transcription by RNA polymerase II	19366699
Hgene	ACVRL1	GO:0071560	cellular response to transforming growth factor beta stimulus	19494318

Fusion gene breakpoints across ACVRL1 (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 SLC43A2 (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	STAD	TCGA-D7-A4Z0-01A	ACVRL1	chr12	52312899	+	SLC43A2	chr17	1481617	-

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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)
ENST00000388922	ACVRL1	chr12	52312899	+	ENST00000301335	SLC43A2	chr17	1481617	-	8357	1660	70	2019	649
ENST00000388922	ACVRL1	chr12	52312899	+	ENST00000571650	SLC43A2	chr17	1481617	-	3245	1660	70	2019	649
ENST00000388922	ACVRL1	chr12	52312899	+	ENST00000382147	SLC43A2	chr17	1481617	-	3220	1660	70	2019	649
ENST00000388922	ACVRL1	chr12	52312899	+	ENST00000412517	SLC43A2	chr17	1481617	-	2123	1660	70	2019	649
ENST00000550683	ACVRL1	chr12	52312899	+	ENST00000301335	SLC43A2	chr17	1481617	-	8217	1520	26	1879	617
ENST00000550683	ACVRL1	chr12	52312899	+	ENST00000571650	SLC43A2	chr17	1481617	-	3105	1520	26	1879	617
ENST00000550683	ACVRL1	chr12	52312899	+	ENST00000382147	SLC43A2	chr17	1481617	-	3080	1520	26	1879	617
ENST00000550683	ACVRL1	chr12	52312899	+	ENST00000412517	SLC43A2	chr17	1481617	-	1983	1520	26	1879	617
ENST00000419526	ACVRL1	chr12	52312899	+	ENST00000301335	SLC43A2	chr17	1481617	-	7614	917	50	1276	408
ENST00000419526	ACVRL1	chr12	52312899	+	ENST00000571650	SLC43A2	chr17	1481617	-	2502	917	50	1276	408
ENST00000419526	ACVRL1	chr12	52312899	+	ENST00000382147	SLC43A2	chr17	1481617	-	2477	917	50	1276	408
ENST00000419526	ACVRL1	chr12	52312899	+	ENST00000412517	SLC43A2	chr17	1481617	-	1380	917	50	1276	408

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
ENST00000388922	ENST00000301335	ACVRL1	chr12	52312899	+	SLC43A2	chr17	1481617	-	0.010707549	0.9892924
ENST00000388922	ENST00000571650	ACVRL1	chr12	52312899	+	SLC43A2	chr17	1481617	-	0.01339675	0.98660326
ENST00000388922	ENST00000382147	ACVRL1	chr12	52312899	+	SLC43A2	chr17	1481617	-	0.013205537	0.9867944
ENST00000388922	ENST00000412517	ACVRL1	chr12	52312899	+	SLC43A2	chr17	1481617	-	0.025443798	0.97455627
ENST00000550683	ENST00000301335	ACVRL1	chr12	52312899	+	SLC43A2	chr17	1481617	-	0.015389746	0.9846103
ENST00000550683	ENST00000571650	ACVRL1	chr12	52312899	+	SLC43A2	chr17	1481617	-	0.021339925	0.97866005
ENST00000550683	ENST00000382147	ACVRL1	chr12	52312899	+	SLC43A2	chr17	1481617	-	0.02097063	0.9790294
ENST00000550683	ENST00000412517	ACVRL1	chr12	52312899	+	SLC43A2	chr17	1481617	-	0.04303423	0.9569658
ENST00000419526	ENST00000301335	ACVRL1	chr12	52312899	+	SLC43A2	chr17	1481617	-	0.006792982	0.99320704
ENST00000419526	ENST00000571650	ACVRL1	chr12	52312899	+	SLC43A2	chr17	1481617	-	0.009296507	0.99070346
ENST00000419526	ENST00000382147	ACVRL1	chr12	52312899	+	SLC43A2	chr17	1481617	-	0.009236852	0.9907631
ENST00000419526	ENST00000412517	ACVRL1	chr12	52312899	+	SLC43A2	chr17	1481617	-	0.01953395	0.98046607

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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

>1915_1915_1_ACVRL1-SLC43A2_ACVRL1_chr12_52312899_ENST00000388922_SLC43A2_chr17_1481617_ENST00000301335_length(amino acids)=649AA_BP=12
MLQPPSQSREAAAPAAPSEPLPGSSPVRGRARTPARRPALAVQLRPRGGGEVAPVRRRLAPRHPQSGPRGTMTLGSPRKGLLMLLMALVT
QGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEGRHPQEHRGCGNLHRELCRGRPTEFVNHYCCDSHLCNHNVSLVLEATQPP
SEQPGTDGQLALILGPVLALLALVALGVLGLWHVRRRQEKQRGLHSELGESSLILKASEQGDSMLGDLLDSDCTTGSGSGLPFLVQRTVA
RQVALVECVGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWFRETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYHEHGSLYDFL
QRQTLEPHLALRLAVSAACGLAHLHVEIFGTQGKPAIAHRDFKSRNVLVKSNLQCCIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPE
VLDEQIRTDCFESYKWTDIWAFGLVLWEIARRTIVNGIVEDYRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPILSFILHTIV
RGFIHSAVGGLYAAVYPSTQFGSLTGLQSLISALFALLQQPLFLAMMGPLQGDPLWVNVGLLLLSLLGFCLPLYLICYRRQLERQLQQRQ

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

>1915_1915_2_ACVRL1-SLC43A2_ACVRL1_chr12_52312899_ENST00000388922_SLC43A2_chr17_1481617_ENST00000382147_length(amino acids)=649AA_BP=12
MLQPPSQSREAAAPAAPSEPLPGSSPVRGRARTPARRPALAVQLRPRGGGEVAPVRRRLAPRHPQSGPRGTMTLGSPRKGLLMLLMALVT
QGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEGRHPQEHRGCGNLHRELCRGRPTEFVNHYCCDSHLCNHNVSLVLEATQPP
SEQPGTDGQLALILGPVLALLALVALGVLGLWHVRRRQEKQRGLHSELGESSLILKASEQGDSMLGDLLDSDCTTGSGSGLPFLVQRTVA
RQVALVECVGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWFRETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYHEHGSLYDFL
QRQTLEPHLALRLAVSAACGLAHLHVEIFGTQGKPAIAHRDFKSRNVLVKSNLQCCIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPE
VLDEQIRTDCFESYKWTDIWAFGLVLWEIARRTIVNGIVEDYRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPILSFILHTIV
RGFIHSAVGGLYAAVYPSTQFGSLTGLQSLISALFALLQQPLFLAMMGPLQGDPLWVNVGLLLLSLLGFCLPLYLICYRRQLERQLQQRQ

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

>1915_1915_3_ACVRL1-SLC43A2_ACVRL1_chr12_52312899_ENST00000388922_SLC43A2_chr17_1481617_ENST00000412517_length(amino acids)=649AA_BP=12
MLQPPSQSREAAAPAAPSEPLPGSSPVRGRARTPARRPALAVQLRPRGGGEVAPVRRRLAPRHPQSGPRGTMTLGSPRKGLLMLLMALVT
QGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEGRHPQEHRGCGNLHRELCRGRPTEFVNHYCCDSHLCNHNVSLVLEATQPP
SEQPGTDGQLALILGPVLALLALVALGVLGLWHVRRRQEKQRGLHSELGESSLILKASEQGDSMLGDLLDSDCTTGSGSGLPFLVQRTVA
RQVALVECVGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWFRETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYHEHGSLYDFL
QRQTLEPHLALRLAVSAACGLAHLHVEIFGTQGKPAIAHRDFKSRNVLVKSNLQCCIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPE
VLDEQIRTDCFESYKWTDIWAFGLVLWEIARRTIVNGIVEDYRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPILSFILHTIV
RGFIHSAVGGLYAAVYPSTQFGSLTGLQSLISALFALLQQPLFLAMMGPLQGDPLWVNVGLLLLSLLGFCLPLYLICYRRQLERQLQQRQ

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

>1915_1915_4_ACVRL1-SLC43A2_ACVRL1_chr12_52312899_ENST00000388922_SLC43A2_chr17_1481617_ENST00000571650_length(amino acids)=649AA_BP=12
MLQPPSQSREAAAPAAPSEPLPGSSPVRGRARTPARRPALAVQLRPRGGGEVAPVRRRLAPRHPQSGPRGTMTLGSPRKGLLMLLMALVT
QGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVVLVREEGRHPQEHRGCGNLHRELCRGRPTEFVNHYCCDSHLCNHNVSLVLEATQPP
SEQPGTDGQLALILGPVLALLALVALGVLGLWHVRRRQEKQRGLHSELGESSLILKASEQGDSMLGDLLDSDCTTGSGSGLPFLVQRTVA
RQVALVECVGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWFRETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYHEHGSLYDFL
QRQTLEPHLALRLAVSAACGLAHLHVEIFGTQGKPAIAHRDFKSRNVLVKSNLQCCIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPE
VLDEQIRTDCFESYKWTDIWAFGLVLWEIARRTIVNGIVEDYRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPILSFILHTIV
RGFIHSAVGGLYAAVYPSTQFGSLTGLQSLISALFALLQQPLFLAMMGPLQGDPLWVNVGLLLLSLLGFCLPLYLICYRRQLERQLQQRQ

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

>1915_1915_5_ACVRL1-SLC43A2_ACVRL1_chr12_52312899_ENST00000419526_SLC43A2_chr17_1481617_ENST00000301335_length(amino acids)=408AA_BP=289
MSHFMALTPPLLLLSAGTMTLGSPRKGLLMLLMALVTQGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWFRETEIYNTVLLRHDNILGFI
ASDMTSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGTQGKPAIAHRDFKSRNVLVKSNLQCCIADLG
LAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDIWAFGLVLWEIARRTIVNGIVEDYRPPFYDVVPNDPSFEDMKK
VVCVDQQTPTIPNRLAADPILSFILHTIVRGFIHSAVGGLYAAVYPSTQFGSLTGLQSLISALFALLQQPLFLAMMGPLQGDPLWVNVGL

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

>1915_1915_6_ACVRL1-SLC43A2_ACVRL1_chr12_52312899_ENST00000419526_SLC43A2_chr17_1481617_ENST00000382147_length(amino acids)=408AA_BP=289
MSHFMALTPPLLLLSAGTMTLGSPRKGLLMLLMALVTQGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWFRETEIYNTVLLRHDNILGFI
ASDMTSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGTQGKPAIAHRDFKSRNVLVKSNLQCCIADLG
LAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDIWAFGLVLWEIARRTIVNGIVEDYRPPFYDVVPNDPSFEDMKK
VVCVDQQTPTIPNRLAADPILSFILHTIVRGFIHSAVGGLYAAVYPSTQFGSLTGLQSLISALFALLQQPLFLAMMGPLQGDPLWVNVGL

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

>1915_1915_7_ACVRL1-SLC43A2_ACVRL1_chr12_52312899_ENST00000419526_SLC43A2_chr17_1481617_ENST00000412517_length(amino acids)=408AA_BP=289
MSHFMALTPPLLLLSAGTMTLGSPRKGLLMLLMALVTQGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWFRETEIYNTVLLRHDNILGFI
ASDMTSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGTQGKPAIAHRDFKSRNVLVKSNLQCCIADLG
LAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDIWAFGLVLWEIARRTIVNGIVEDYRPPFYDVVPNDPSFEDMKK
VVCVDQQTPTIPNRLAADPILSFILHTIVRGFIHSAVGGLYAAVYPSTQFGSLTGLQSLISALFALLQQPLFLAMMGPLQGDPLWVNVGL

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>1915_1915_8_ACVRL1-SLC43A2_ACVRL1_chr12_52312899_ENST00000419526_SLC43A2_chr17_1481617_ENST00000571650_length(amino acids)=408AA_BP=289
MSHFMALTPPLLLLSAGTMTLGSPRKGLLMLLMALVTQGKGRYGEVWRGLWHGESVAVKIFSSRDEQSWFRETEIYNTVLLRHDNILGFI
ASDMTSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGTQGKPAIAHRDFKSRNVLVKSNLQCCIADLG
LAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDIWAFGLVLWEIARRTIVNGIVEDYRPPFYDVVPNDPSFEDMKK
VVCVDQQTPTIPNRLAADPILSFILHTIVRGFIHSAVGGLYAAVYPSTQFGSLTGLQSLISALFALLQQPLFLAMMGPLQGDPLWVNVGL

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

>1915_1915_9_ACVRL1-SLC43A2_ACVRL1_chr12_52312899_ENST00000550683_SLC43A2_chr17_1481617_ENST00000301335_length(amino acids)=617AA_BP=498
MPPLQKKLCDFLWAGGSHGQRLSHFMALTPPLLLLSAGTMTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWC
TVVLVREEGRHPQEHRGCGNLHRELCRGRPTEFVNHYCCDSHLCNHNVSLVLEATQPPSEQPGTDGQLALILGPVLALLALVALGVLGLW
HVRRRQEKQRGLHSELGESSLILKASEQGDSMLGDLLDSDCTTGSGSGLPFLVQRTVARQVALVECVGKGRYGEVWRGLWHGESVAVKIF
SSRDEQSWFRETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGTQ
GKPAIAHRDFKSRNVLVKSNLQCCIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDIWAFGLVLWEIARR
TIVNGIVEDYRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPILSFILHTIVRGFIHSAVGGLYAAVYPSTQFGSLTGLQSLIS

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

>1915_1915_10_ACVRL1-SLC43A2_ACVRL1_chr12_52312899_ENST00000550683_SLC43A2_chr17_1481617_ENST00000382147_length(amino acids)=617AA_BP=498
MPPLQKKLCDFLWAGGSHGQRLSHFMALTPPLLLLSAGTMTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWC
TVVLVREEGRHPQEHRGCGNLHRELCRGRPTEFVNHYCCDSHLCNHNVSLVLEATQPPSEQPGTDGQLALILGPVLALLALVALGVLGLW
HVRRRQEKQRGLHSELGESSLILKASEQGDSMLGDLLDSDCTTGSGSGLPFLVQRTVARQVALVECVGKGRYGEVWRGLWHGESVAVKIF
SSRDEQSWFRETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGTQ
GKPAIAHRDFKSRNVLVKSNLQCCIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDIWAFGLVLWEIARR
TIVNGIVEDYRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPILSFILHTIVRGFIHSAVGGLYAAVYPSTQFGSLTGLQSLIS

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>1915_1915_11_ACVRL1-SLC43A2_ACVRL1_chr12_52312899_ENST00000550683_SLC43A2_chr17_1481617_ENST00000412517_length(amino acids)=617AA_BP=498
MPPLQKKLCDFLWAGGSHGQRLSHFMALTPPLLLLSAGTMTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWC
TVVLVREEGRHPQEHRGCGNLHRELCRGRPTEFVNHYCCDSHLCNHNVSLVLEATQPPSEQPGTDGQLALILGPVLALLALVALGVLGLW
HVRRRQEKQRGLHSELGESSLILKASEQGDSMLGDLLDSDCTTGSGSGLPFLVQRTVARQVALVECVGKGRYGEVWRGLWHGESVAVKIF
SSRDEQSWFRETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGTQ
GKPAIAHRDFKSRNVLVKSNLQCCIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDIWAFGLVLWEIARR
TIVNGIVEDYRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPILSFILHTIVRGFIHSAVGGLYAAVYPSTQFGSLTGLQSLIS

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>1915_1915_12_ACVRL1-SLC43A2_ACVRL1_chr12_52312899_ENST00000550683_SLC43A2_chr17_1481617_ENST00000571650_length(amino acids)=617AA_BP=498
MPPLQKKLCDFLWAGGSHGQRLSHFMALTPPLLLLSAGTMTLGSPRKGLLMLLMALVTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWC
TVVLVREEGRHPQEHRGCGNLHRELCRGRPTEFVNHYCCDSHLCNHNVSLVLEATQPPSEQPGTDGQLALILGPVLALLALVALGVLGLW
HVRRRQEKQRGLHSELGESSLILKASEQGDSMLGDLLDSDCTTGSGSGLPFLVQRTVARQVALVECVGKGRYGEVWRGLWHGESVAVKIF
SSRDEQSWFRETEIYNTVLLRHDNILGFIASDMTSRNSSTQLWLITHYHEHGSLYDFLQRQTLEPHLALRLAVSAACGLAHLHVEIFGTQ
GKPAIAHRDFKSRNVLVKSNLQCCIADLGLAVMHSQGSDYLDIGNNPRVGTKRYMAPEVLDEQIRTDCFESYKWTDIWAFGLVLWEIARR
TIVNGIVEDYRPPFYDVVPNDPSFEDMKKVVCVDQQTPTIPNRLAADPILSFILHTIVRGFIHSAVGGLYAAVYPSTQFGSLTGLQSLIS

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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/chr12:52312899/chr17:1481617)
- 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
ACVRL1 P37023	.
FUNCTION: Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood vessel development. On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. May bind activin as well. {ECO:0000269\|PubMed:22718755, ECO:0000269\|PubMed:22799562, ECO:0000269\|PubMed:26176610}.	FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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

- Retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

ACVRL1

chr12:52312899

chr17:1481617

ENST00000388922

172_201

459.0

504.0

Domain

Hgene

ACVRL1

chr12:52312899

chr17:1481617

ENST00000388922

208_216

459.0

504.0

Nucleotide binding

ATP

Hgene

ACVRL1

chr12:52312899

chr17:1481617

ENST00000388922

73_76

459.0

504.0

Region

Note=Mediates specificity for BMP ligand

Hgene

ACVRL1

chr12:52312899

chr17:1481617

ENST00000388922

22_118

459.0

504.0

Topological domain

Extracellular

Hgene

ACVRL1

chr12:52312899

chr17:1481617

ENST00000388922

119_141

459.0

504.0

Transmembrane

Helical

Tgene

SLC43A2

chr12:52312899

chr17:1481617

ENST00000301335

462_482

450.0

570.0

Transmembrane

Helical

Tgene

SLC43A2

chr12:52312899

chr17:1481617

ENST00000301335

490_510

450.0

570.0

Transmembrane

Helical

Tgene

SLC43A2

chr12:52312899

chr17:1481617

ENST00000301335

516_536

450.0

570.0

Transmembrane

Helical

Tgene

SLC43A2

chr12:52312899

chr17:1481617

ENST00000571650

462_482

454.0

574.0

Transmembrane

Helical

Tgene

SLC43A2

chr12:52312899

chr17:1481617

ENST00000571650

490_510

454.0

574.0

Transmembrane

Helical

Tgene

SLC43A2

chr12:52312899

chr17:1481617

ENST00000571650

516_536

454.0

574.0

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

ACVRL1

chr12:52312899

chr17:1481617

ENST00000388922

202_492

459.0

504.0

Domain

Protein kinase

Hgene

ACVRL1

chr12:52312899

chr17:1481617

ENST00000388922

142_503

459.0

504.0

Topological domain

Cytoplasmic

Tgene

SLC43A2

chr12:52312899

chr17:1481617

ENST00000301335

409_413

450.0

570.0

Compositional bias

Note=Poly-Lys

Tgene

SLC43A2

chr12:52312899

chr17:1481617

ENST00000571650

409_413

454.0

574.0

Compositional bias

Note=Poly-Lys

Tgene

SLC43A2

chr12:52312899

chr17:1481617

ENST00000301335

120_140

450.0

570.0

Transmembrane

Helical

Tgene

SLC43A2

chr12:52312899

chr17:1481617

ENST00000301335

143_163

450.0

570.0

Transmembrane

Helical

Tgene

SLC43A2

chr12:52312899

chr17:1481617

ENST00000301335

177_197

450.0

570.0

Transmembrane

Helical

Tgene

SLC43A2

chr12:52312899

chr17:1481617

ENST00000301335

203_223

450.0

570.0

Transmembrane

Helical

Tgene

SLC43A2

chr12:52312899

chr17:1481617

ENST00000301335

20_40

450.0

570.0

Transmembrane

Helical

Tgene

SLC43A2

chr12:52312899

chr17:1481617

ENST00000301335

323_345

450.0

570.0

Transmembrane

Helical

Tgene

SLC43A2

chr12:52312899

chr17:1481617

ENST00000301335

365_385

450.0

570.0

Transmembrane

Helical

Tgene

SLC43A2

chr12:52312899

chr17:1481617

ENST00000301335

435_455

450.0

570.0

Transmembrane

Helical

Tgene

SLC43A2

chr12:52312899

chr17:1481617

ENST00000301335

90_110

450.0

570.0

Transmembrane

Helical

Tgene

SLC43A2

chr12:52312899

chr17:1481617

ENST00000571650

120_140

454.0

574.0

Transmembrane

Helical

Tgene

SLC43A2

chr12:52312899

chr17:1481617

ENST00000571650

143_163

454.0

574.0

Transmembrane

Helical

Tgene

SLC43A2

chr12:52312899

chr17:1481617

ENST00000571650

177_197

454.0

574.0

Transmembrane

Helical

Tgene

SLC43A2

chr12:52312899

chr17:1481617

ENST00000571650

203_223

454.0

574.0

Transmembrane

Helical

Tgene

SLC43A2

chr12:52312899

chr17:1481617

ENST00000571650

20_40

454.0

574.0

Transmembrane

Helical

Tgene

SLC43A2

chr12:52312899

chr17:1481617

ENST00000571650

323_345

454.0

574.0

Transmembrane

Helical

Tgene

SLC43A2

chr12:52312899

chr17:1481617

ENST00000571650

365_385

454.0

574.0

Transmembrane

Helical

Tgene

SLC43A2

chr12:52312899

chr17:1481617

ENST00000571650

435_455

454.0

574.0

Transmembrane

Helical

Tgene

SLC43A2

chr12:52312899

chr17:1481617

ENST00000571650

90_110

454.0

574.0

Transmembrane

Helical

Top

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
ACVRL1
SLC43A2

- 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

Top

Related Drugs to ACVRL1-SLC43A2

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to ACVRL1-SLC43A2

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