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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ACVRL1-SLC43A2 (FusionGDB2 ID:HG94TG124935)

Fusion Gene Summary for ACVRL1-SLC43A2

check button Fusion gene summary
Fusion gene informationFusion gene name: ACVRL1-SLC43A2
Fusion gene ID: hg94tg124935
HgeneTgene
Gene symbol

ACVRL1

SLC43A2

Gene ID

94

124935

Gene nameactivin A receptor like type 1solute carrier family 43 member 2
SynonymsACVRLK1|ALK-1|ALK1|HHT|HHT2|ORW2|SKR3|TSR-ILAT4
Cytomap('ACVRL1')('SLC43A2')

12q13.13

17p13.3

Type of geneprotein-codingprotein-coding
Descriptionserine/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 1large neutral amino acids transporter small subunit 4L-type amino acid transporter 4solute carrier family 43 (amino acid system L transporter), member 2
Modification date2020032920200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000388922, ENST00000419526, 
ENST00000550683, ENST00000550084, 
Fusion gene scores* DoF score4 X 4 X 2=3210 X 10 X 6=600
# samples 416
** MAII scorelog2(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

PubMed: ACVRL1 [Title/Abstract] AND SLC43A2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACVRL1(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneACVRL1

GO:0006468

protein phosphorylation

12065756

HgeneACVRL1

GO:0007165

signal transduction

15702480

HgeneACVRL1

GO:0007179

transforming growth factor beta receptor signaling pathway

15702480

HgeneACVRL1

GO:0010596

negative regulation of endothelial cell migration

17068149

HgeneACVRL1

GO:0030308

negative regulation of cell growth

17068149

HgeneACVRL1

GO:0030513

positive regulation of BMP signaling pathway

17068149

HgeneACVRL1

GO:0045893

positive regulation of transcription, DNA-templated

12393874

HgeneACVRL1

GO:0045944

positive regulation of transcription by RNA polymerase II

19366699

HgeneACVRL1

GO:0071560

cellular response to transforming growth factor beta stimulus

19494318


check buttonFusion 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.
all structure
check buttonFusion 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.
all structure

check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-D7-A4Z0-01AACVRL1chr12

52312899

+SLC43A2chr17

1481617

-


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Fusion Gene ORF analysis for ACVRL1-SLC43A2

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-intronENST00000388922ENST00000574274ACVRL1chr12

52312899

+SLC43A2chr17

1481617

-
5CDS-intronENST00000419526ENST00000574274ACVRL1chr12

52312899

+SLC43A2chr17

1481617

-
5CDS-intronENST00000550683ENST00000574274ACVRL1chr12

52312899

+SLC43A2chr17

1481617

-
In-frameENST00000388922ENST00000301335ACVRL1chr12

52312899

+SLC43A2chr17

1481617

-
In-frameENST00000388922ENST00000382147ACVRL1chr12

52312899

+SLC43A2chr17

1481617

-
In-frameENST00000388922ENST00000412517ACVRL1chr12

52312899

+SLC43A2chr17

1481617

-
In-frameENST00000388922ENST00000571650ACVRL1chr12

52312899

+SLC43A2chr17

1481617

-
In-frameENST00000419526ENST00000301335ACVRL1chr12

52312899

+SLC43A2chr17

1481617

-
In-frameENST00000419526ENST00000382147ACVRL1chr12

52312899

+SLC43A2chr17

1481617

-
In-frameENST00000419526ENST00000412517ACVRL1chr12

52312899

+SLC43A2chr17

1481617

-
In-frameENST00000419526ENST00000571650ACVRL1chr12

52312899

+SLC43A2chr17

1481617

-
In-frameENST00000550683ENST00000301335ACVRL1chr12

52312899

+SLC43A2chr17

1481617

-
In-frameENST00000550683ENST00000382147ACVRL1chr12

52312899

+SLC43A2chr17

1481617

-
In-frameENST00000550683ENST00000412517ACVRL1chr12

52312899

+SLC43A2chr17

1481617

-
In-frameENST00000550683ENST00000571650ACVRL1chr12

52312899

+SLC43A2chr17

1481617

-
intron-3CDSENST00000550084ENST00000301335ACVRL1chr12

52312899

+SLC43A2chr17

1481617

-
intron-3CDSENST00000550084ENST00000382147ACVRL1chr12

52312899

+SLC43A2chr17

1481617

-
intron-3CDSENST00000550084ENST00000412517ACVRL1chr12

52312899

+SLC43A2chr17

1481617

-
intron-3CDSENST00000550084ENST00000571650ACVRL1chr12

52312899

+SLC43A2chr17

1481617

-
intron-intronENST00000550084ENST00000574274ACVRL1chr12

52312899

+SLC43A2chr17

1481617

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000388922ACVRL1chr1252312899+ENST00000301335SLC43A2chr171481617-83571660702019649
ENST00000388922ACVRL1chr1252312899+ENST00000571650SLC43A2chr171481617-32451660702019649
ENST00000388922ACVRL1chr1252312899+ENST00000382147SLC43A2chr171481617-32201660702019649
ENST00000388922ACVRL1chr1252312899+ENST00000412517SLC43A2chr171481617-21231660702019649
ENST00000550683ACVRL1chr1252312899+ENST00000301335SLC43A2chr171481617-82171520261879617
ENST00000550683ACVRL1chr1252312899+ENST00000571650SLC43A2chr171481617-31051520261879617
ENST00000550683ACVRL1chr1252312899+ENST00000382147SLC43A2chr171481617-30801520261879617
ENST00000550683ACVRL1chr1252312899+ENST00000412517SLC43A2chr171481617-19831520261879617
ENST00000419526ACVRL1chr1252312899+ENST00000301335SLC43A2chr171481617-7614917501276408
ENST00000419526ACVRL1chr1252312899+ENST00000571650SLC43A2chr171481617-2502917501276408
ENST00000419526ACVRL1chr1252312899+ENST00000382147SLC43A2chr171481617-2477917501276408
ENST00000419526ACVRL1chr1252312899+ENST00000412517SLC43A2chr171481617-1380917501276408

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000388922ENST00000301335ACVRL1chr1252312899+SLC43A2chr171481617-0.0107075490.9892924
ENST00000388922ENST00000571650ACVRL1chr1252312899+SLC43A2chr171481617-0.013396750.98660326
ENST00000388922ENST00000382147ACVRL1chr1252312899+SLC43A2chr171481617-0.0132055370.9867944
ENST00000388922ENST00000412517ACVRL1chr1252312899+SLC43A2chr171481617-0.0254437980.97455627
ENST00000550683ENST00000301335ACVRL1chr1252312899+SLC43A2chr171481617-0.0153897460.9846103
ENST00000550683ENST00000571650ACVRL1chr1252312899+SLC43A2chr171481617-0.0213399250.97866005
ENST00000550683ENST00000382147ACVRL1chr1252312899+SLC43A2chr171481617-0.020970630.9790294
ENST00000550683ENST00000412517ACVRL1chr1252312899+SLC43A2chr171481617-0.043034230.9569658
ENST00000419526ENST00000301335ACVRL1chr1252312899+SLC43A2chr171481617-0.0067929820.99320704
ENST00000419526ENST00000571650ACVRL1chr1252312899+SLC43A2chr171481617-0.0092965070.99070346
ENST00000419526ENST00000382147ACVRL1chr1252312899+SLC43A2chr171481617-0.0092368520.9907631
ENST00000419526ENST00000412517ACVRL1chr1252312899+SLC43A2chr171481617-0.019533950.98046607

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Fusion Genomic Features for ACVRL1-SLC43A2


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

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Fusion Protein Features for ACVRL1-SLC43A2


check button 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

check buttonRetention 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.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneACVRL1chr12:52312899chr17:1481617ENST00000388922+910172_201459504.0DomainGS
HgeneACVRL1chr12:52312899chr17:1481617ENST00000388922+910208_216459504.0Nucleotide bindingATP
HgeneACVRL1chr12:52312899chr17:1481617ENST00000388922+91073_76459504.0RegionNote=Mediates specificity for BMP ligand
HgeneACVRL1chr12:52312899chr17:1481617ENST00000388922+91022_118459504.0Topological domainExtracellular
HgeneACVRL1chr12:52312899chr17:1481617ENST00000388922+910119_141459504.0TransmembraneHelical
TgeneSLC43A2chr12:52312899chr17:1481617ENST000003013351014462_482450570.0TransmembraneHelical
TgeneSLC43A2chr12:52312899chr17:1481617ENST000003013351014490_510450570.0TransmembraneHelical
TgeneSLC43A2chr12:52312899chr17:1481617ENST000003013351014516_536450570.0TransmembraneHelical
TgeneSLC43A2chr12:52312899chr17:1481617ENST000005716501115462_482454574.0TransmembraneHelical
TgeneSLC43A2chr12:52312899chr17:1481617ENST000005716501115490_510454574.0TransmembraneHelical
TgeneSLC43A2chr12:52312899chr17:1481617ENST000005716501115516_536454574.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneACVRL1chr12:52312899chr17:1481617ENST00000388922+910202_492459504.0DomainProtein kinase
HgeneACVRL1chr12:52312899chr17:1481617ENST00000388922+910142_503459504.0Topological domainCytoplasmic
TgeneSLC43A2chr12:52312899chr17:1481617ENST000003013351014409_413450570.0Compositional biasNote=Poly-Lys
TgeneSLC43A2chr12:52312899chr17:1481617ENST000005716501115409_413454574.0Compositional biasNote=Poly-Lys
TgeneSLC43A2chr12:52312899chr17:1481617ENST000003013351014120_140450570.0TransmembraneHelical
TgeneSLC43A2chr12:52312899chr17:1481617ENST000003013351014143_163450570.0TransmembraneHelical
TgeneSLC43A2chr12:52312899chr17:1481617ENST000003013351014177_197450570.0TransmembraneHelical
TgeneSLC43A2chr12:52312899chr17:1481617ENST000003013351014203_223450570.0TransmembraneHelical
TgeneSLC43A2chr12:52312899chr17:1481617ENST00000301335101420_40450570.0TransmembraneHelical
TgeneSLC43A2chr12:52312899chr17:1481617ENST000003013351014323_345450570.0TransmembraneHelical
TgeneSLC43A2chr12:52312899chr17:1481617ENST000003013351014365_385450570.0TransmembraneHelical
TgeneSLC43A2chr12:52312899chr17:1481617ENST000003013351014435_455450570.0TransmembraneHelical
TgeneSLC43A2chr12:52312899chr17:1481617ENST00000301335101490_110450570.0TransmembraneHelical
TgeneSLC43A2chr12:52312899chr17:1481617ENST000005716501115120_140454574.0TransmembraneHelical
TgeneSLC43A2chr12:52312899chr17:1481617ENST000005716501115143_163454574.0TransmembraneHelical
TgeneSLC43A2chr12:52312899chr17:1481617ENST000005716501115177_197454574.0TransmembraneHelical
TgeneSLC43A2chr12:52312899chr17:1481617ENST000005716501115203_223454574.0TransmembraneHelical
TgeneSLC43A2chr12:52312899chr17:1481617ENST00000571650111520_40454574.0TransmembraneHelical
TgeneSLC43A2chr12:52312899chr17:1481617ENST000005716501115323_345454574.0TransmembraneHelical
TgeneSLC43A2chr12:52312899chr17:1481617ENST000005716501115365_385454574.0TransmembraneHelical
TgeneSLC43A2chr12:52312899chr17:1481617ENST000005716501115435_455454574.0TransmembraneHelical
TgeneSLC43A2chr12:52312899chr17:1481617ENST00000571650111590_110454574.0TransmembraneHelical


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Fusion Gene Sequence for ACVRL1-SLC43A2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>1915_1915_1_ACVRL1-SLC43A2_ACVRL1_chr12_52312899_ENST00000388922_SLC43A2_chr17_1481617_ENST00000301335_length(transcript)=8357nt_BP=1660nt
AGGAAACGGTTTATTAGGAGGGAGTGGTGGAGCTGGGCCAGGCAGGAAGACGCTGGAATAAGAAACATTTTTGCTCCAGCCCCCATCCCA
GTCCCGGGAGGCTGCCGCGCCAGCTGCGCCGAGCGAGCCCCTCCCCGGCTCCAGCCCGGTCCGGGGCCGCGCCCGGACCCCAGCCCGCCG
TCCAGCGCTGGCGGTGCAACTGCGGCCGCGCGGTGGAGGGGAGGTGGCCCCGGTCCGCCGAAGGCTAGCGCCCCGCCACCCGCAGAGCGG
GCCCAGAGGGACCATGACCTTGGGCTCCCCCAGGAAAGGCCTTCTGATGCTGCTGATGGCCTTGGTGACCCAGGGAGACCCTGTGAAGCC
GTCTCGGGGCCCGCTGGTGACCTGCACGTGTGAGAGCCCACATTGCAAGGGGCCTACCTGCCGGGGGGCCTGGTGCACAGTAGTGCTGGT
GCGGGAGGAGGGGAGGCACCCCCAGGAACATCGGGGCTGCGGGAACTTGCACAGGGAGCTCTGCAGGGGGCGCCCCACCGAGTTCGTCAA
CCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGA
TGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAG
GCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGGA
CCTCCTGGACAGTGACTGCACCACAGGGAGTGGCTCAGGGCTCCCCTTCCTGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGA
GTGTGTGGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGA
ACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCTTCATCGCCTCAGACATGACCTC
CCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCC
CCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCAT
TGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGCCTGGCTGTGATGCACTC
ACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCG
CACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGG
CATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCA
GCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGATCCTCTCCTTCATCCTGCACACAATCGTGCGAGGATTCATCCACTCCGC
TGTCGGGGGCCTGTACGCTGCCGTGTACCCCTCCACCCAGTTCGGCAGCCTCACGGGACTGCAGTCTCTGATCAGCGCGCTCTTCGCCCT
TCTGCAGCAGCCGCTGTTTCTGGCCATGATGGGTCCTCTCCAGGGAGACCCTCTGTGGGTGAACGTGGGGCTGCTCCTTCTCAGCCTGCT
GGGCTTCTGCCTCCCGCTCTACCTGATCTGCTACCGGCGCCAGCTGGAGCGGCAGCTGCAGCAGAGGCAGGAGGATGACAAACTCTTCCT
CAAAATCAACGGCTCGTCCAACCAGGAGGCCTTCGTGTAGTGGCTGCCGCCTCGGAACTGCGGTCTCCTGCCTGTGCTTCAGTGACTGAC
CCCTGTCCTGCCCCTCCAGAGTACCCCACGCACCCCCAGGACCTTCGCCGTCTCCGTGCCAGCGTTCACGCTCCCTCCCGGGGCCCTGCC
TCGGAGCTCTGTGGTGGAAGGACGGGAGAGGGCCCCGGACACGCGCGTTTTCTCCTGCCGAACGCAGGGGCTGCCCTGACTTTGCTCTGC
CGCCCCCCGGGGACCCGGGGCCTGGGGTCTCTGTGGTGCCTGCAGCAGGAGCCAGGAACGCCCGGCAGGCAGGCGCTCTCCCGCCAGTGT
CTGGATTCTGCCTCTTGCCAAAGCAGAGGGGGCTGCCATCCCCTGCCTGCCACCTGCCCCTCGGCTGCATGCCCACAGCCGTACCTGCCT
GAGGACAAAGGCTTGCACTGTCTCGCCCGCGCCTGGCCCCCACCCCCTCCCCGGCCAGCCTGAGGCTGCCTGAGGAAGGAAGGACCCGCT
TCCTGTTGTCGGTGCTAATTCCTTTGTAATTCCAGCCCCCTGTCGCCTGTCCAGGGCCTGCCCACCCGTTGGAGGCCGGTGGAGAAGCCC
CACCTGGCTTATGCCCTGGAGAGGGTTTAGCGGGCTGGGTGGACCCCTCGCCTCCTCCCCGAGGGCCAATGCCGCGGACACGTTTTCACT
GTCACCCTCGTTCTGTCTGCCACCTGAAGGGAATTTGAGGACCGCCGCCAGGGCACCCCGTACATACACACAGCTGCTTTTGTGGAGGTG
GACGAAAGGCTGTGGCCGGCAGACGTGGAGGTCCAGGCCGGGGTGGGGACGTGGGTGGGTCCGAGGTGTGTGTGGGGTCGGGGTGGGCTC
TAGGAGTTAGCCCTTATCCCCACTGACCAGGCGGGAGCCGCCAGGCCTGCAGCTGGGCCAGTGCCCAGGAGCCATCCTGGCGTGGGGCCA
GGAGCTTGTCCAAGGCCACAGGCCCACAGCACCCCCTGCCGGCGGGCTCCGTGGGGCCCTGGAGCTGATGACGGGGGAGGCCCGTCCGCC
TGGCCCACCAACCCGCCCACCTTGACTGCCCCCAGAAGTGTGTCTTGAGACCTCCTGGGCGTGCTTAGAGGGGTGAGTTGTGTTTGGATT
TTTAGTTATTTTCTCTTCAGTTTTATTAGACTTCTTTTTTATAAAGCAATAAATCCATTTTCCTCCGGGTAAGGGATGCCCCTTCTGGCA
TATCAGTTAATAGCTGCATGTGCCTATTTTGAGCTTGAGAAGAAAAGGCAGGACAAGATTCTCTGCCACCGACCAGCTCCAGCCGTGCCC
AGCTGCTCTTCGTCTCTCTGGGGGACTGCTGACTCGGGAGGGACAGTGGGCCAGGAAAAGACCTTCCTCCCCAACCCCCAAACAAACTGG
GCTTGTGCAGACATCTTAGAAGTGTGAGCCACCCTCCTCTACCGATTTTCCCAGCCAAACAGGCGAATCCTGGTCCCTTTCCATCCCTAC
ACCCTTCCACAACCCTGAAGATTCCCGCTGGGTTCTTCTGCAGGCTCAGAGCAGTTCAGGATGTGGGCGGCAGGGAGGGGGATGAAAGGA
GAAGAGGAAAGGGCAGGTCCAGGCCACATTCAAGCTCCACATTAACAGCTTGGGCGCCTGGAACACATATCTCCTAGGCTTTATTTCACT
CAAATATTTAAAAAAAGACTGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGCTCACCTGAGGTCAG
GAGTTCGAGACCATCCTGACCAACATGGAGAAACCCCGTCTGTACTAAAAATAAACATTAATCGGGCGTGGTGGCGTGCGCCTGTAATCC
CAACTACTCGGGAGCCTGAGGCAGGAGAATCGCTTGAACCGGGGAGACGGAGATTGCCGTGAGTCGAGATCGCACCATTGCACTCCAGCC
TGGGCAACAGAGCGAGGCTCCGTCTCAAAAAGAAAAAAAAAAAGAGAACGAGATAAACATGCCCACTCCTGAGAACACTCGTTTTGTGAT
GTTAGTGGTTATTCTGATTTTCAAGAAAGTATTATAGTCAAGTTTGGGAAAGGCTGAGTTAAAAGTCAAGCCTGTTTCCTTACAGCCAGC
ACTGACAGCACTTTGCCAACGCTCATGAGCTCCGTGGCTCCTCAGGAGCGGGTGTGCTGTGCTGCCGAGGAACGGCTCGAACCATCAGAG
CCACCAGCCTCCACGTGCGGCTCCATGATCACCCCCAGCAGAGGCTCCCGGGTGCTGGTTCCAAATGGAGACTCCAGGTCTTGCCGCTGA
CCGGTGACTCTGCTGCCAGCATTTGAGACCCGCCATCACACAGGAGTTGCAGATTCGGAGAAACCCTAACTAGCCAGGGTGCTGCCAGCT
GGGAAAAGGCCGCCTTTTTTTTTTTTTTTTTTTTTTTGAGTTGGGGTCTTGCTCTGCCATCCAGGCTGGAGTGCAGTGGTGCAACTGATA
GCTCACCACGGCCTCCAACTCATGGGCTCAAGGGATCCTCCCACCTCGGCCTCCTAAGTATCTGGGACTATAAGTGTGTGCCACCATGCC
TGGCTAATTTTTTTTTTCTTTTTCATAAAGATGAATTCTTGCTATTTTGCCCAGGCTGGTCTGGAACTCCTGGGCTGAAGCAATTCTCCC
ACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGTCACAATGCCTAGCCAAAAAGCCAGTCTTGAGATGGGGAAGACGTGGCCCGT
GCTGTCCCCAGCAGTGCCCAGTCCCAGCCAAAGTGGGCAGTGCTGCCTCACTCTCCCACCCACCCTCAGGGTGTGGCACTTACTGGGAAG
AAGCAGGCATTGAGAAACAGAATTGAGGGGGGGAAACAGTCCAGGGCCAACAGTGCTTGGGGATTGAGGCCTGAAAATGCGAGCAGGGTA
CAGAGGCTGTGGCTGGCCAGATGGGTCGGGTGCCCCCTGCACTCCCACCCCCTAGTCAGGGGTCACCCATCCTACTTTGCCTTGTGTGGA
GCTGACAGGTGACATGTTTTCCTATTGTTGTCCTTGACTTGATAACAATCTGGGAGTTAAACACATATGATCATCCCTGCTTTACAACTG
AAAAACGAGGCCTAGAGATACTATCATCATATACACCTGAAAAACGAGGCCTGGAGCGATGGAGGAGCTTGTTCAAGGTCAGAGCCAGCA
CTCATATATGGGTCTTAAGACACTGGAGCAGCCAAGGGCCTCTAGACCAGGACATTCCACTCGGAGCAGCAGCTCAGGGGCCACCAGGCC
TCTGTGGCAGGGGGACCTCTGTGGCAGGGGGGACCTCTGTGGCGGGGGGGGGGCCTCTGTGGCAGGGGGGTCACAGCCCAAGGAAGGGGA
GCAGGCCCAGGCATGGTTTCCGTTTCTGGGAGCCAAGAGCCTTCTCAGAAGAGGGGGAGAGAGCTACTGCATGGAATCATTTGGGCCCTG
GAGGCTGATGGGTACTTGGGGGAGCAATCCCTGGTGACCCCAACCAGCAAGACAAGTGCCCTGTGAAGGGGAAGGGACTACAGCTGATCA
AAGGAGCAGGCACCAGTGGCCGGGCCTCCCGTCTGCCCCTCATCCTCCAGGCTCTGGCGGGAAGGAGCAGGAAGGGCTCCCTGCCCTTGG
GGTTTTGATCAGTGAGGAGGGGGGCTTGGGTCTGAGTCTGGGTCTGGGTCTGCTGCCGAAACACTGCCCCCAGTCCCTCTCCTCACTAGA
CTCTGGGGTCTAGGCGTGTCTTTGTGGTCGGCCTTCTCCAAACCCTCTAGGCCTCTGTCTGCAGCTGCTGCTGCCTGGACCTATACACAA
GGTCCCACCCCTCACCGGGGCCAAAGACGTGGTTGCAGGCCCTGGTGGATCCTTTCTGTTTTGCTCCATCCCCGTCCCCTCTTGCACCCA
GCATCGTCCTGGTCAGAACTTCCGTTTAAACCTTCCTTGCCTGCCGTGCACTCCGAGGGGGGCGTCACTTTGCCATAGGCCCCAGGGCTG
AAAATGGCGGGACATCCAGTATTGGGCTCACGTGCATAAGACTGTCCCAGACAGCAGCACAATCACGTTCAGCCAAGTGGAGTTTCCGAC
GCACTTGTGTGGCAGCCGCGTGAATGTGAGCCGATATGCAGCTGGGAGGGGTTGTGGGCCTCCTGCGGTGAGGGGCTCCTGCCAGGAGCT
CTGAGAAGCCTCCACAGAATCAGCCGTCGGGCTCCTTCAGCAGCAGCTCCCCTTATCTGTGCCAACGACTGGGGGCCTAACTCAAGGGTG
CCAGCCCGTCTTCCGCCAATACAGACTGTGGGATTCTGAGAGTTAGGAGCCTGGGGTCCCCTGGGGTGGGGTGGTCAGGGTGAGCAGGTG
GGCTCTGTGAGCCTGTTTCCCCATGCCCTGACTCACCCCAATCCCTGGGTGAGGACAGAGCTCCTGAAGGCCACTGAAGGAGGTGCAGCA
CACTCCACCTGGGTGGCCTTCCGCAGCTCAGCCCTCTTCCTGCCAGCAGGAAGCCTCTGCCTGTGCTCCTTAAGTTAGCCATCCTCACCC
CCTCCGGGCAGCTCTGAGACTGAGCCAGGGCCACTAGCAGCACCCAGACCTCGACCCTTCTCAGACCGAGGCGCCACCACCCCAGGCCGA
GGAGGCAAGGAGGGAAGACCAAAGTCTAGAGGACTGTCTTGGTGGCCCTGGGCGAGTCTTGAACTTTGGTGCCATCATCTGCAAAAGGGA
GGAAAGAATGCCTGCGTGGTGCAGCTACGTGGATACGCAGTGAAGACCCGCATGGTGGGACGCCTGGCACTTAACAATGGTAGCATTTGG
CCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCCGGC
TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT
GAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA
CTCCGTCTCAAAAAAAAAAAAAAAAACAATGGTAGCATCGTTTTCAGTGCCCAGGAAGAAGGCAGCTGGGACAGGGAAAGGGCCACCACA
CCACACCCAAGCCCATACAACAGGAGAGCCACTTTCAGCAGCTCTGAGCAGGACAGACTTGTGGCCAAGTCAAGAAAGTAAGGTCTGGTC
CCAGCGAGGTGGCTCATCCCTGTAATCCCAGTGCTTTGGGAGGCCGAAGCGGGGGCGGGGTGGATCACTTGAGGTCAGGGGTTTGAGACC
AGCCTGACCAACATGGTGAAACCTCAACTCTACTAAAAATACAAAAATTAGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTT
TGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCAACGTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACGAA
AAAAAAAAATTAGCTGGGCGTGGTGGTGGGTACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGT
GAAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA
AAAGTAAGGTCTGTATCTGCTGACCCCACCCTTCTCCGAAGCCCTCTCCGAGCAAAGCCTTAAGAAACTCTTCTCTCGTTCACTTTTCTT
TTGTGGCTTTCACGTTTTGGTAAGACTTGGCCAAATAGCTGCTCGAGATAATCAATCACTGGTGGACAAGTTTCTGCTGAGTGAGGTTTC
TGCTGAGTGGGGCGACTCAAGGCACGGTCACGTAGGCAGCACCTGTACACCGCATCCTCATACAGCTGCGGGACCGTGCCTCTGACTGTG
TGCGTGTGTGTTTATCTAAGTGTGAGATGCATCCGGGCATGTCAGGGTGTGTACATGTTGGGAAGACTGTGTAGATTTCTTGTGTGCCGC
TCTCTGAATGGAGGAGAGGGGAAGCGTCTTACCTCGCTGAATCCCTTTCCATTGCTGGAAAGAACACCTGGGCAGGAGCGGCCCCAAGAC
CCCGCCCAGGCCCTCGGAAGGGAGCCTGAAGGGTTAATCCGTACCCTGTATTAACCAGGGTCAACCCAGCGGCTGACCCGCCTCTTCCCT

>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(transcript)=3220nt_BP=1660nt
AGGAAACGGTTTATTAGGAGGGAGTGGTGGAGCTGGGCCAGGCAGGAAGACGCTGGAATAAGAAACATTTTTGCTCCAGCCCCCATCCCA
GTCCCGGGAGGCTGCCGCGCCAGCTGCGCCGAGCGAGCCCCTCCCCGGCTCCAGCCCGGTCCGGGGCCGCGCCCGGACCCCAGCCCGCCG
TCCAGCGCTGGCGGTGCAACTGCGGCCGCGCGGTGGAGGGGAGGTGGCCCCGGTCCGCCGAAGGCTAGCGCCCCGCCACCCGCAGAGCGG
GCCCAGAGGGACCATGACCTTGGGCTCCCCCAGGAAAGGCCTTCTGATGCTGCTGATGGCCTTGGTGACCCAGGGAGACCCTGTGAAGCC
GTCTCGGGGCCCGCTGGTGACCTGCACGTGTGAGAGCCCACATTGCAAGGGGCCTACCTGCCGGGGGGCCTGGTGCACAGTAGTGCTGGT
GCGGGAGGAGGGGAGGCACCCCCAGGAACATCGGGGCTGCGGGAACTTGCACAGGGAGCTCTGCAGGGGGCGCCCCACCGAGTTCGTCAA
CCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGA
TGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAG
GCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGGA
CCTCCTGGACAGTGACTGCACCACAGGGAGTGGCTCAGGGCTCCCCTTCCTGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGA
GTGTGTGGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGA
ACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCTTCATCGCCTCAGACATGACCTC
CCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCC
CCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCAT
TGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGCCTGGCTGTGATGCACTC
ACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCG
CACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGG
CATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCA
GCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGATCCTCTCCTTCATCCTGCACACAATCGTGCGAGGATTCATCCACTCCGC
TGTCGGGGGCCTGTACGCTGCCGTGTACCCCTCCACCCAGTTCGGCAGCCTCACGGGACTGCAGTCTCTGATCAGCGCGCTCTTCGCCCT
TCTGCAGCAGCCGCTGTTTCTGGCCATGATGGGTCCTCTCCAGGGAGACCCTCTGTGGGTGAACGTGGGGCTGCTCCTTCTCAGCCTGCT
GGGCTTCTGCCTCCCGCTCTACCTGATCTGCTACCGGCGCCAGCTGGAGCGGCAGCTGCAGCAGAGGCAGGAGGATGACAAACTCTTCCT
CAAAATCAACGGCTCGTCCAACCAGGAGGCCTTCGTGTAGTGGCTGCCGCCTCGGAACTGCGGTCTCCTGCCTGTGCTTCAGTGACTGAC
CCCTGTCCTGCCCCTCCAGAGTACCCCACGCACCCCCAGGACCTTCGCCGTCTCCGTGCCAGCGTTCACGCTCCCTCCCGGGGCCCTGCC
TCGGAGCTCTGTGGTGGAAGGACGGGAGAGGGCCCCGGACACGCGCGTTTTCTCCTGCCGAACGCAGGGGCTGCCCTGACTTTGCTCTGC
CGCCCCCCGGGGACCCGGGGCCTGGGGTCTCTGTGGTGCCTGCAGCAGGAGCCAGGAACGCCCGGCAGGCAGGCGCTCTCCCGCCAGTGT
CTGGATTCTGCCTCTTGCCAAAGCAGAGGGGGCTGCCATCCCCTGCCTGCCACCTGCCCCTCGGCTGCATGCCCACAGCCGTACCTGCCT
GAGGACAAAGGCTTGCACTGTCTCGCCCGCGCCTGGCCCCCACCCCCTCCCCGGCCAGCCTGAGGCTGCCTGAGGAAGGAAGGACCCGCT
TCCTGTTGTCGGTGCTAATTCCTTTGTAATTCCAGCCCCCTGTCGCCTGTCCAGGGCCTGCCCACCCGTTGGAGGCCGGTGGAGAAGCCC
CACCTGGCTTATGCCCTGGAGAGGGTTTAGCGGGCTGGGTGGACCCCTCGCCTCCTCCCCGAGGGCCAATGCCGCGGACACGTTTTCACT
GTCACCCTCGTTCTGTCTGCCACCTGAAGGGAATTTGAGGACCGCCGCCAGGGCACCCCGTACATACACACAGCTGCTTTTGTGGAGGTG
GACGAAAGGCTGTGGCCGGCAGACGTGGAGGTCCAGGCCGGGGTGGGGACGTGGGTGGGTCCGAGGTGTGTGTGGGGTCGGGGTGGGCTC
TAGGAGTTAGCCCTTATCCCCACTGACCAGGCGGGAGCCGCCAGGCCTGCAGCTGGGCCAGTGCCCAGGAGCCATCCTGGCGTGGGGCCA
GGAGCTTGTCCAAGGCCACAGGCCCACAGCACCCCCTGCCGGCGGGCTCCGTGGGGCCCTGGAGCTGATGACGGGGGAGGCCCGTCCGCC
TGGCCCACCAACCCGCCCACCTTGACTGCCCCCAGAAGTGTGTCTTGAGACCTCCTGGGCGTGCTTAGAGGGGTGAGTTGTGTTTGGATT

>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(transcript)=2123nt_BP=1660nt
AGGAAACGGTTTATTAGGAGGGAGTGGTGGAGCTGGGCCAGGCAGGAAGACGCTGGAATAAGAAACATTTTTGCTCCAGCCCCCATCCCA
GTCCCGGGAGGCTGCCGCGCCAGCTGCGCCGAGCGAGCCCCTCCCCGGCTCCAGCCCGGTCCGGGGCCGCGCCCGGACCCCAGCCCGCCG
TCCAGCGCTGGCGGTGCAACTGCGGCCGCGCGGTGGAGGGGAGGTGGCCCCGGTCCGCCGAAGGCTAGCGCCCCGCCACCCGCAGAGCGG
GCCCAGAGGGACCATGACCTTGGGCTCCCCCAGGAAAGGCCTTCTGATGCTGCTGATGGCCTTGGTGACCCAGGGAGACCCTGTGAAGCC
GTCTCGGGGCCCGCTGGTGACCTGCACGTGTGAGAGCCCACATTGCAAGGGGCCTACCTGCCGGGGGGCCTGGTGCACAGTAGTGCTGGT
GCGGGAGGAGGGGAGGCACCCCCAGGAACATCGGGGCTGCGGGAACTTGCACAGGGAGCTCTGCAGGGGGCGCCCCACCGAGTTCGTCAA
CCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGA
TGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAG
GCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGGA
CCTCCTGGACAGTGACTGCACCACAGGGAGTGGCTCAGGGCTCCCCTTCCTGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGA
GTGTGTGGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGA
ACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCTTCATCGCCTCAGACATGACCTC
CCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCC
CCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCAT
TGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGCCTGGCTGTGATGCACTC
ACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCG
CACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGG
CATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCA
GCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGATCCTCTCCTTCATCCTGCACACAATCGTGCGAGGATTCATCCACTCCGC
TGTCGGGGGCCTGTACGCTGCCGTGTACCCCTCCACCCAGTTCGGCAGCCTCACGGGACTGCAGTCTCTGATCAGCGCGCTCTTCGCCCT
TCTGCAGCAGCCGCTGTTTCTGGCCATGATGGGTCCTCTCCAGGGAGACCCTCTGTGGGTGAACGTGGGGCTGCTCCTTCTCAGCCTGCT
GGGCTTCTGCCTCCCGCTCTACCTGATCTGCTACCGGCGCCAGCTGGAGCGGCAGCTGCAGCAGAGGCAGGAGGATGACAAACTCTTCCT
CAAAATCAACGGCTCGTCCAACCAGGAGGCCTTCGTGTAGTGGCTGCCGCCTCGGAACTGCGGTCTCCTGCCTGTGCTTCAGTGACTGAC

>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(transcript)=3245nt_BP=1660nt
AGGAAACGGTTTATTAGGAGGGAGTGGTGGAGCTGGGCCAGGCAGGAAGACGCTGGAATAAGAAACATTTTTGCTCCAGCCCCCATCCCA
GTCCCGGGAGGCTGCCGCGCCAGCTGCGCCGAGCGAGCCCCTCCCCGGCTCCAGCCCGGTCCGGGGCCGCGCCCGGACCCCAGCCCGCCG
TCCAGCGCTGGCGGTGCAACTGCGGCCGCGCGGTGGAGGGGAGGTGGCCCCGGTCCGCCGAAGGCTAGCGCCCCGCCACCCGCAGAGCGG
GCCCAGAGGGACCATGACCTTGGGCTCCCCCAGGAAAGGCCTTCTGATGCTGCTGATGGCCTTGGTGACCCAGGGAGACCCTGTGAAGCC
GTCTCGGGGCCCGCTGGTGACCTGCACGTGTGAGAGCCCACATTGCAAGGGGCCTACCTGCCGGGGGGCCTGGTGCACAGTAGTGCTGGT
GCGGGAGGAGGGGAGGCACCCCCAGGAACATCGGGGCTGCGGGAACTTGCACAGGGAGCTCTGCAGGGGGCGCCCCACCGAGTTCGTCAA
CCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGA
TGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAG
GCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGGA
CCTCCTGGACAGTGACTGCACCACAGGGAGTGGCTCAGGGCTCCCCTTCCTGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGA
GTGTGTGGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGA
ACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCTTCATCGCCTCAGACATGACCTC
CCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCC
CCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCAT
TGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGCCTGGCTGTGATGCACTC
ACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCG
CACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGG
CATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCA
GCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGATCCTCTCCTTCATCCTGCACACAATCGTGCGAGGATTCATCCACTCCGC
TGTCGGGGGCCTGTACGCTGCCGTGTACCCCTCCACCCAGTTCGGCAGCCTCACGGGACTGCAGTCTCTGATCAGCGCGCTCTTCGCCCT
TCTGCAGCAGCCGCTGTTTCTGGCCATGATGGGTCCTCTCCAGGGAGACCCTCTGTGGGTGAACGTGGGGCTGCTCCTTCTCAGCCTGCT
GGGCTTCTGCCTCCCGCTCTACCTGATCTGCTACCGGCGCCAGCTGGAGCGGCAGCTGCAGCAGAGGCAGGAGGATGACAAACTCTTCCT
CAAAATCAACGGCTCGTCCAACCAGGAGGCCTTCGTGTAGTGGCTGCCGCCTCGGAACTGCGGTCTCCTGCCTGTGCTTCAGTGACTGAC
CCCTGTCCTGCCCCTCCAGAGTACCCCACGCACCCCCAGGACCTTCGCCGTCTCCGTGCCAGCGTTCACGCTCCCTCCCGGGGCCCTGCC
TCGGAGCTCTGTGGTGGAAGGACGGGAGAGGGCCCCGGACACGCGCGTTTTCTCCTGCCGAACGCAGGGGCTGCCCTGACTTTGCTCTGC
CGCCCCCCGGGGACCCGGGGCCTGGGGTCTCTGTGGTGCCTGCAGCAGGAGCCAGGAACGCCCGGCAGGCAGGCGCTCTCCCGCCAGTGT
CTGGATTCTGCCTCTTGCCAAAGCAGAGGGGGCTGCCATCCCCTGCCTGCCACCTGCCCCTCGGCTGCATGCCCACAGCCGTACCTGCCT
GAGGACAAAGGCTTGCACTGTCTCGCCCGCGCCTGGCCCCCACCCCCTCCCCGGCCAGCCTGAGGCTGCCTGAGGAAGGAAGGACCCGCT
TCCTGTTGTCGGTGCTAATTCCTTTGTAATTCCAGCCCCCTGTCGCCTGTCCAGGGCCTGCCCACCCGTTGGAGGCCGGTGGAGAAGCCC
CACCTGGCTTATGCCCTGGAGAGGGTTTAGCGGGCTGGGTGGACCCCTCGCCTCCTCCCCGAGGGCCAATGCCGCGGACACGTTTTCACT
GTCACCCTCGTTCTGTCTGCCACCTGAAGGGAATTTGAGGACCGCCGCCAGGGCACCCCGTACATACACACAGCTGCTTTTGTGGAGGTG
GACGAAAGGCTGTGGCCGGCAGACGTGGAGGTCCAGGCCGGGGTGGGGACGTGGGTGGGTCCGAGGTGTGTGTGGGGTCGGGGTGGGCTC
TAGGAGTTAGCCCTTATCCCCACTGACCAGGCGGGAGCCGCCAGGCCTGCAGCTGGGCCAGTGCCCAGGAGCCATCCTGGCGTGGGGCCA
GGAGCTTGTCCAAGGCCACAGGCCCACAGCACCCCCTGCCGGCGGGCTCCGTGGGGCCCTGGAGCTGATGACGGGGGAGGCCCGTCCGCC
TGGCCCACCAACCCGCCCACCTTGACTGCCCCCAGAAGTGTGTCTTGAGACCTCCTGGGCGTGCTTAGAGGGGTGAGTTGTGTTTGGATT
TTTAGTTATTTTCTCTTCAGTTTTATTAGACTTCTTTTTTATAAAGCAATAAATCCATTTTCCTCCGGGTAAGGGATGCCCCTTCTGGCA

>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(transcript)=7614nt_BP=917nt
AAAAAAAACTCTGTGATTTCCTCTGGGCAGGAGGGAGCCACGGCCAGCGGCTGTCACACTTCATGGCTCTTACTCCACCTCTCTTGCTCC
TCTCTGCAGGGACCATGACCTTGGGCTCCCCCAGGAAAGGCCTTCTGATGCTGCTGATGGCCTTGGTGACCCAGGGAAAAGGCCGCTATG
GCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTG
AGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGT
GGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTG
TGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCC
GCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACA
TCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACA
AGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGCATCGTGGAGGACTATAGACCAC
CCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACC
GGCTGGCTGCAGACCCGATCCTCTCCTTCATCCTGCACACAATCGTGCGAGGATTCATCCACTCCGCTGTCGGGGGCCTGTACGCTGCCG
TGTACCCCTCCACCCAGTTCGGCAGCCTCACGGGACTGCAGTCTCTGATCAGCGCGCTCTTCGCCCTTCTGCAGCAGCCGCTGTTTCTGG
CCATGATGGGTCCTCTCCAGGGAGACCCTCTGTGGGTGAACGTGGGGCTGCTCCTTCTCAGCCTGCTGGGCTTCTGCCTCCCGCTCTACC
TGATCTGCTACCGGCGCCAGCTGGAGCGGCAGCTGCAGCAGAGGCAGGAGGATGACAAACTCTTCCTCAAAATCAACGGCTCGTCCAACC
AGGAGGCCTTCGTGTAGTGGCTGCCGCCTCGGAACTGCGGTCTCCTGCCTGTGCTTCAGTGACTGACCCCTGTCCTGCCCCTCCAGAGTA
CCCCACGCACCCCCAGGACCTTCGCCGTCTCCGTGCCAGCGTTCACGCTCCCTCCCGGGGCCCTGCCTCGGAGCTCTGTGGTGGAAGGAC
GGGAGAGGGCCCCGGACACGCGCGTTTTCTCCTGCCGAACGCAGGGGCTGCCCTGACTTTGCTCTGCCGCCCCCCGGGGACCCGGGGCCT
GGGGTCTCTGTGGTGCCTGCAGCAGGAGCCAGGAACGCCCGGCAGGCAGGCGCTCTCCCGCCAGTGTCTGGATTCTGCCTCTTGCCAAAG
CAGAGGGGGCTGCCATCCCCTGCCTGCCACCTGCCCCTCGGCTGCATGCCCACAGCCGTACCTGCCTGAGGACAAAGGCTTGCACTGTCT
CGCCCGCGCCTGGCCCCCACCCCCTCCCCGGCCAGCCTGAGGCTGCCTGAGGAAGGAAGGACCCGCTTCCTGTTGTCGGTGCTAATTCCT
TTGTAATTCCAGCCCCCTGTCGCCTGTCCAGGGCCTGCCCACCCGTTGGAGGCCGGTGGAGAAGCCCCACCTGGCTTATGCCCTGGAGAG
GGTTTAGCGGGCTGGGTGGACCCCTCGCCTCCTCCCCGAGGGCCAATGCCGCGGACACGTTTTCACTGTCACCCTCGTTCTGTCTGCCAC
CTGAAGGGAATTTGAGGACCGCCGCCAGGGCACCCCGTACATACACACAGCTGCTTTTGTGGAGGTGGACGAAAGGCTGTGGCCGGCAGA
CGTGGAGGTCCAGGCCGGGGTGGGGACGTGGGTGGGTCCGAGGTGTGTGTGGGGTCGGGGTGGGCTCTAGGAGTTAGCCCTTATCCCCAC
TGACCAGGCGGGAGCCGCCAGGCCTGCAGCTGGGCCAGTGCCCAGGAGCCATCCTGGCGTGGGGCCAGGAGCTTGTCCAAGGCCACAGGC
CCACAGCACCCCCTGCCGGCGGGCTCCGTGGGGCCCTGGAGCTGATGACGGGGGAGGCCCGTCCGCCTGGCCCACCAACCCGCCCACCTT
GACTGCCCCCAGAAGTGTGTCTTGAGACCTCCTGGGCGTGCTTAGAGGGGTGAGTTGTGTTTGGATTTTTAGTTATTTTCTCTTCAGTTT
TATTAGACTTCTTTTTTATAAAGCAATAAATCCATTTTCCTCCGGGTAAGGGATGCCCCTTCTGGCATATCAGTTAATAGCTGCATGTGC
CTATTTTGAGCTTGAGAAGAAAAGGCAGGACAAGATTCTCTGCCACCGACCAGCTCCAGCCGTGCCCAGCTGCTCTTCGTCTCTCTGGGG
GACTGCTGACTCGGGAGGGACAGTGGGCCAGGAAAAGACCTTCCTCCCCAACCCCCAAACAAACTGGGCTTGTGCAGACATCTTAGAAGT
GTGAGCCACCCTCCTCTACCGATTTTCCCAGCCAAACAGGCGAATCCTGGTCCCTTTCCATCCCTACACCCTTCCACAACCCTGAAGATT
CCCGCTGGGTTCTTCTGCAGGCTCAGAGCAGTTCAGGATGTGGGCGGCAGGGAGGGGGATGAAAGGAGAAGAGGAAAGGGCAGGTCCAGG
CCACATTCAAGCTCCACATTAACAGCTTGGGCGCCTGGAACACATATCTCCTAGGCTTTATTTCACTCAAATATTTAAAAAAAGACTGGG
CGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGCTCACCTGAGGTCAGGAGTTCGAGACCATCCTGACCAA
CATGGAGAAACCCCGTCTGTACTAAAAATAAACATTAATCGGGCGTGGTGGCGTGCGCCTGTAATCCCAACTACTCGGGAGCCTGAGGCA
GGAGAATCGCTTGAACCGGGGAGACGGAGATTGCCGTGAGTCGAGATCGCACCATTGCACTCCAGCCTGGGCAACAGAGCGAGGCTCCGT
CTCAAAAAGAAAAAAAAAAAGAGAACGAGATAAACATGCCCACTCCTGAGAACACTCGTTTTGTGATGTTAGTGGTTATTCTGATTTTCA
AGAAAGTATTATAGTCAAGTTTGGGAAAGGCTGAGTTAAAAGTCAAGCCTGTTTCCTTACAGCCAGCACTGACAGCACTTTGCCAACGCT
CATGAGCTCCGTGGCTCCTCAGGAGCGGGTGTGCTGTGCTGCCGAGGAACGGCTCGAACCATCAGAGCCACCAGCCTCCACGTGCGGCTC
CATGATCACCCCCAGCAGAGGCTCCCGGGTGCTGGTTCCAAATGGAGACTCCAGGTCTTGCCGCTGACCGGTGACTCTGCTGCCAGCATT
TGAGACCCGCCATCACACAGGAGTTGCAGATTCGGAGAAACCCTAACTAGCCAGGGTGCTGCCAGCTGGGAAAAGGCCGCCTTTTTTTTT
TTTTTTTTTTTTTTGAGTTGGGGTCTTGCTCTGCCATCCAGGCTGGAGTGCAGTGGTGCAACTGATAGCTCACCACGGCCTCCAACTCAT
GGGCTCAAGGGATCCTCCCACCTCGGCCTCCTAAGTATCTGGGACTATAAGTGTGTGCCACCATGCCTGGCTAATTTTTTTTTTCTTTTT
CATAAAGATGAATTCTTGCTATTTTGCCCAGGCTGGTCTGGAACTCCTGGGCTGAAGCAATTCTCCCACCTCAGCCTCCCAAAGTGCTGA
GATTACAGGCGTGAGTCACAATGCCTAGCCAAAAAGCCAGTCTTGAGATGGGGAAGACGTGGCCCGTGCTGTCCCCAGCAGTGCCCAGTC
CCAGCCAAAGTGGGCAGTGCTGCCTCACTCTCCCACCCACCCTCAGGGTGTGGCACTTACTGGGAAGAAGCAGGCATTGAGAAACAGAAT
TGAGGGGGGGAAACAGTCCAGGGCCAACAGTGCTTGGGGATTGAGGCCTGAAAATGCGAGCAGGGTACAGAGGCTGTGGCTGGCCAGATG
GGTCGGGTGCCCCCTGCACTCCCACCCCCTAGTCAGGGGTCACCCATCCTACTTTGCCTTGTGTGGAGCTGACAGGTGACATGTTTTCCT
ATTGTTGTCCTTGACTTGATAACAATCTGGGAGTTAAACACATATGATCATCCCTGCTTTACAACTGAAAAACGAGGCCTAGAGATACTA
TCATCATATACACCTGAAAAACGAGGCCTGGAGCGATGGAGGAGCTTGTTCAAGGTCAGAGCCAGCACTCATATATGGGTCTTAAGACAC
TGGAGCAGCCAAGGGCCTCTAGACCAGGACATTCCACTCGGAGCAGCAGCTCAGGGGCCACCAGGCCTCTGTGGCAGGGGGACCTCTGTG
GCAGGGGGGACCTCTGTGGCGGGGGGGGGGCCTCTGTGGCAGGGGGGTCACAGCCCAAGGAAGGGGAGCAGGCCCAGGCATGGTTTCCGT
TTCTGGGAGCCAAGAGCCTTCTCAGAAGAGGGGGAGAGAGCTACTGCATGGAATCATTTGGGCCCTGGAGGCTGATGGGTACTTGGGGGA
GCAATCCCTGGTGACCCCAACCAGCAAGACAAGTGCCCTGTGAAGGGGAAGGGACTACAGCTGATCAAAGGAGCAGGCACCAGTGGCCGG
GCCTCCCGTCTGCCCCTCATCCTCCAGGCTCTGGCGGGAAGGAGCAGGAAGGGCTCCCTGCCCTTGGGGTTTTGATCAGTGAGGAGGGGG
GCTTGGGTCTGAGTCTGGGTCTGGGTCTGCTGCCGAAACACTGCCCCCAGTCCCTCTCCTCACTAGACTCTGGGGTCTAGGCGTGTCTTT
GTGGTCGGCCTTCTCCAAACCCTCTAGGCCTCTGTCTGCAGCTGCTGCTGCCTGGACCTATACACAAGGTCCCACCCCTCACCGGGGCCA
AAGACGTGGTTGCAGGCCCTGGTGGATCCTTTCTGTTTTGCTCCATCCCCGTCCCCTCTTGCACCCAGCATCGTCCTGGTCAGAACTTCC
GTTTAAACCTTCCTTGCCTGCCGTGCACTCCGAGGGGGGCGTCACTTTGCCATAGGCCCCAGGGCTGAAAATGGCGGGACATCCAGTATT
GGGCTCACGTGCATAAGACTGTCCCAGACAGCAGCACAATCACGTTCAGCCAAGTGGAGTTTCCGACGCACTTGTGTGGCAGCCGCGTGA
ATGTGAGCCGATATGCAGCTGGGAGGGGTTGTGGGCCTCCTGCGGTGAGGGGCTCCTGCCAGGAGCTCTGAGAAGCCTCCACAGAATCAG
CCGTCGGGCTCCTTCAGCAGCAGCTCCCCTTATCTGTGCCAACGACTGGGGGCCTAACTCAAGGGTGCCAGCCCGTCTTCCGCCAATACA
GACTGTGGGATTCTGAGAGTTAGGAGCCTGGGGTCCCCTGGGGTGGGGTGGTCAGGGTGAGCAGGTGGGCTCTGTGAGCCTGTTTCCCCA
TGCCCTGACTCACCCCAATCCCTGGGTGAGGACAGAGCTCCTGAAGGCCACTGAAGGAGGTGCAGCACACTCCACCTGGGTGGCCTTCCG
CAGCTCAGCCCTCTTCCTGCCAGCAGGAAGCCTCTGCCTGTGCTCCTTAAGTTAGCCATCCTCACCCCCTCCGGGCAGCTCTGAGACTGA
GCCAGGGCCACTAGCAGCACCCAGACCTCGACCCTTCTCAGACCGAGGCGCCACCACCCCAGGCCGAGGAGGCAAGGAGGGAAGACCAAA
GTCTAGAGGACTGTCTTGGTGGCCCTGGGCGAGTCTTGAACTTTGGTGCCATCATCTGCAAAAGGGAGGAAAGAATGCCTGCGTGGTGCA
GCTACGTGGATACGCAGTGAAGACCCGCATGGTGGGACGCCTGGCACTTAACAATGGTAGCATTTGGCCGGGCGCGGTGGCTCACGCCTG
TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCT
ACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACC
CGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA
AAACAATGGTAGCATCGTTTTCAGTGCCCAGGAAGAAGGCAGCTGGGACAGGGAAAGGGCCACCACACCACACCCAAGCCCATACAACAG
GAGAGCCACTTTCAGCAGCTCTGAGCAGGACAGACTTGTGGCCAAGTCAAGAAAGTAAGGTCTGGTCCCAGCGAGGTGGCTCATCCCTGT
AATCCCAGTGCTTTGGGAGGCCGAAGCGGGGGCGGGGTGGATCACTTGAGGTCAGGGGTTTGAGACCAGCCTGACCAACATGGTGAAACC
TCAACTCTACTAAAAATACAAAAATTAGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATC
ACAAGGTCAGGAGATCGAGACCAACGTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACGAAAAAAAAAAATTAGCTGGGCGTGG
TGGTGGGTACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGTGAAGCTTGCAGTGAGCCGAGATT
GTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGTAAGGTCTGTATCTGCTGA
CCCCACCCTTCTCCGAAGCCCTCTCCGAGCAAAGCCTTAAGAAACTCTTCTCTCGTTCACTTTTCTTTTGTGGCTTTCACGTTTTGGTAA
GACTTGGCCAAATAGCTGCTCGAGATAATCAATCACTGGTGGACAAGTTTCTGCTGAGTGAGGTTTCTGCTGAGTGGGGCGACTCAAGGC
ACGGTCACGTAGGCAGCACCTGTACACCGCATCCTCATACAGCTGCGGGACCGTGCCTCTGACTGTGTGCGTGTGTGTTTATCTAAGTGT
GAGATGCATCCGGGCATGTCAGGGTGTGTACATGTTGGGAAGACTGTGTAGATTTCTTGTGTGCCGCTCTCTGAATGGAGGAGAGGGGAA
GCGTCTTACCTCGCTGAATCCCTTTCCATTGCTGGAAAGAACACCTGGGCAGGAGCGGCCCCAAGACCCCGCCCAGGCCCTCGGAAGGGA
GCCTGAAGGGTTAATCCGTACCCTGTATTAACCAGGGTCAACCCAGCGGCTGACCCGCCTCTTCCCTGCTCCTTTGCCGTTTCTAGCACC

>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(transcript)=2477nt_BP=917nt
AAAAAAAACTCTGTGATTTCCTCTGGGCAGGAGGGAGCCACGGCCAGCGGCTGTCACACTTCATGGCTCTTACTCCACCTCTCTTGCTCC
TCTCTGCAGGGACCATGACCTTGGGCTCCCCCAGGAAAGGCCTTCTGATGCTGCTGATGGCCTTGGTGACCCAGGGAAAAGGCCGCTATG
GCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTG
AGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGT
GGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTG
TGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCC
GCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACA
TCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACA
AGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGCATCGTGGAGGACTATAGACCAC
CCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACC
GGCTGGCTGCAGACCCGATCCTCTCCTTCATCCTGCACACAATCGTGCGAGGATTCATCCACTCCGCTGTCGGGGGCCTGTACGCTGCCG
TGTACCCCTCCACCCAGTTCGGCAGCCTCACGGGACTGCAGTCTCTGATCAGCGCGCTCTTCGCCCTTCTGCAGCAGCCGCTGTTTCTGG
CCATGATGGGTCCTCTCCAGGGAGACCCTCTGTGGGTGAACGTGGGGCTGCTCCTTCTCAGCCTGCTGGGCTTCTGCCTCCCGCTCTACC
TGATCTGCTACCGGCGCCAGCTGGAGCGGCAGCTGCAGCAGAGGCAGGAGGATGACAAACTCTTCCTCAAAATCAACGGCTCGTCCAACC
AGGAGGCCTTCGTGTAGTGGCTGCCGCCTCGGAACTGCGGTCTCCTGCCTGTGCTTCAGTGACTGACCCCTGTCCTGCCCCTCCAGAGTA
CCCCACGCACCCCCAGGACCTTCGCCGTCTCCGTGCCAGCGTTCACGCTCCCTCCCGGGGCCCTGCCTCGGAGCTCTGTGGTGGAAGGAC
GGGAGAGGGCCCCGGACACGCGCGTTTTCTCCTGCCGAACGCAGGGGCTGCCCTGACTTTGCTCTGCCGCCCCCCGGGGACCCGGGGCCT
GGGGTCTCTGTGGTGCCTGCAGCAGGAGCCAGGAACGCCCGGCAGGCAGGCGCTCTCCCGCCAGTGTCTGGATTCTGCCTCTTGCCAAAG
CAGAGGGGGCTGCCATCCCCTGCCTGCCACCTGCCCCTCGGCTGCATGCCCACAGCCGTACCTGCCTGAGGACAAAGGCTTGCACTGTCT
CGCCCGCGCCTGGCCCCCACCCCCTCCCCGGCCAGCCTGAGGCTGCCTGAGGAAGGAAGGACCCGCTTCCTGTTGTCGGTGCTAATTCCT
TTGTAATTCCAGCCCCCTGTCGCCTGTCCAGGGCCTGCCCACCCGTTGGAGGCCGGTGGAGAAGCCCCACCTGGCTTATGCCCTGGAGAG
GGTTTAGCGGGCTGGGTGGACCCCTCGCCTCCTCCCCGAGGGCCAATGCCGCGGACACGTTTTCACTGTCACCCTCGTTCTGTCTGCCAC
CTGAAGGGAATTTGAGGACCGCCGCCAGGGCACCCCGTACATACACACAGCTGCTTTTGTGGAGGTGGACGAAAGGCTGTGGCCGGCAGA
CGTGGAGGTCCAGGCCGGGGTGGGGACGTGGGTGGGTCCGAGGTGTGTGTGGGGTCGGGGTGGGCTCTAGGAGTTAGCCCTTATCCCCAC
TGACCAGGCGGGAGCCGCCAGGCCTGCAGCTGGGCCAGTGCCCAGGAGCCATCCTGGCGTGGGGCCAGGAGCTTGTCCAAGGCCACAGGC
CCACAGCACCCCCTGCCGGCGGGCTCCGTGGGGCCCTGGAGCTGATGACGGGGGAGGCCCGTCCGCCTGGCCCACCAACCCGCCCACCTT
GACTGCCCCCAGAAGTGTGTCTTGAGACCTCCTGGGCGTGCTTAGAGGGGTGAGTTGTGTTTGGATTTTTAGTTATTTTCTCTTCAGTTT

>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(transcript)=1380nt_BP=917nt
AAAAAAAACTCTGTGATTTCCTCTGGGCAGGAGGGAGCCACGGCCAGCGGCTGTCACACTTCATGGCTCTTACTCCACCTCTCTTGCTCC
TCTCTGCAGGGACCATGACCTTGGGCTCCCCCAGGAAAGGCCTTCTGATGCTGCTGATGGCCTTGGTGACCCAGGGAAAAGGCCGCTATG
GCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTG
AGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGT
GGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTG
TGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCC
GCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACA
TCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACA
AGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGCATCGTGGAGGACTATAGACCAC
CCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACC
GGCTGGCTGCAGACCCGATCCTCTCCTTCATCCTGCACACAATCGTGCGAGGATTCATCCACTCCGCTGTCGGGGGCCTGTACGCTGCCG
TGTACCCCTCCACCCAGTTCGGCAGCCTCACGGGACTGCAGTCTCTGATCAGCGCGCTCTTCGCCCTTCTGCAGCAGCCGCTGTTTCTGG
CCATGATGGGTCCTCTCCAGGGAGACCCTCTGTGGGTGAACGTGGGGCTGCTCCTTCTCAGCCTGCTGGGCTTCTGCCTCCCGCTCTACC
TGATCTGCTACCGGCGCCAGCTGGAGCGGCAGCTGCAGCAGAGGCAGGAGGATGACAAACTCTTCCTCAAAATCAACGGCTCGTCCAACC
AGGAGGCCTTCGTGTAGTGGCTGCCGCCTCGGAACTGCGGTCTCCTGCCTGTGCTTCAGTGACTGACCCCTGTCCTGCCCCTCCAGAGTA

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

--------------------------------------------------------------
>1915_1915_8_ACVRL1-SLC43A2_ACVRL1_chr12_52312899_ENST00000419526_SLC43A2_chr17_1481617_ENST00000571650_length(transcript)=2502nt_BP=917nt
AAAAAAAACTCTGTGATTTCCTCTGGGCAGGAGGGAGCCACGGCCAGCGGCTGTCACACTTCATGGCTCTTACTCCACCTCTCTTGCTCC
TCTCTGCAGGGACCATGACCTTGGGCTCCCCCAGGAAAGGCCTTCTGATGCTGCTGATGGCCTTGGTGACCCAGGGAAAAGGCCGCTATG
GCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTG
AGATCTATAACACAGTGTTGCTCAGACACGACAACATCCTAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGT
GGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTG
TGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCC
GCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACA
TCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACA
AGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGCATCGTGGAGGACTATAGACCAC
CCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACC
GGCTGGCTGCAGACCCGATCCTCTCCTTCATCCTGCACACAATCGTGCGAGGATTCATCCACTCCGCTGTCGGGGGCCTGTACGCTGCCG
TGTACCCCTCCACCCAGTTCGGCAGCCTCACGGGACTGCAGTCTCTGATCAGCGCGCTCTTCGCCCTTCTGCAGCAGCCGCTGTTTCTGG
CCATGATGGGTCCTCTCCAGGGAGACCCTCTGTGGGTGAACGTGGGGCTGCTCCTTCTCAGCCTGCTGGGCTTCTGCCTCCCGCTCTACC
TGATCTGCTACCGGCGCCAGCTGGAGCGGCAGCTGCAGCAGAGGCAGGAGGATGACAAACTCTTCCTCAAAATCAACGGCTCGTCCAACC
AGGAGGCCTTCGTGTAGTGGCTGCCGCCTCGGAACTGCGGTCTCCTGCCTGTGCTTCAGTGACTGACCCCTGTCCTGCCCCTCCAGAGTA
CCCCACGCACCCCCAGGACCTTCGCCGTCTCCGTGCCAGCGTTCACGCTCCCTCCCGGGGCCCTGCCTCGGAGCTCTGTGGTGGAAGGAC
GGGAGAGGGCCCCGGACACGCGCGTTTTCTCCTGCCGAACGCAGGGGCTGCCCTGACTTTGCTCTGCCGCCCCCCGGGGACCCGGGGCCT
GGGGTCTCTGTGGTGCCTGCAGCAGGAGCCAGGAACGCCCGGCAGGCAGGCGCTCTCCCGCCAGTGTCTGGATTCTGCCTCTTGCCAAAG
CAGAGGGGGCTGCCATCCCCTGCCTGCCACCTGCCCCTCGGCTGCATGCCCACAGCCGTACCTGCCTGAGGACAAAGGCTTGCACTGTCT
CGCCCGCGCCTGGCCCCCACCCCCTCCCCGGCCAGCCTGAGGCTGCCTGAGGAAGGAAGGACCCGCTTCCTGTTGTCGGTGCTAATTCCT
TTGTAATTCCAGCCCCCTGTCGCCTGTCCAGGGCCTGCCCACCCGTTGGAGGCCGGTGGAGAAGCCCCACCTGGCTTATGCCCTGGAGAG
GGTTTAGCGGGCTGGGTGGACCCCTCGCCTCCTCCCCGAGGGCCAATGCCGCGGACACGTTTTCACTGTCACCCTCGTTCTGTCTGCCAC
CTGAAGGGAATTTGAGGACCGCCGCCAGGGCACCCCGTACATACACACAGCTGCTTTTGTGGAGGTGGACGAAAGGCTGTGGCCGGCAGA
CGTGGAGGTCCAGGCCGGGGTGGGGACGTGGGTGGGTCCGAGGTGTGTGTGGGGTCGGGGTGGGCTCTAGGAGTTAGCCCTTATCCCCAC
TGACCAGGCGGGAGCCGCCAGGCCTGCAGCTGGGCCAGTGCCCAGGAGCCATCCTGGCGTGGGGCCAGGAGCTTGTCCAAGGCCACAGGC
CCACAGCACCCCCTGCCGGCGGGCTCCGTGGGGCCCTGGAGCTGATGACGGGGGAGGCCCGTCCGCCTGGCCCACCAACCCGCCCACCTT
GACTGCCCCCAGAAGTGTGTCTTGAGACCTCCTGGGCGTGCTTAGAGGGGTGAGTTGTGTTTGGATTTTTAGTTATTTTCTCTTCAGTTT

>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(transcript)=8217nt_BP=1520nt
CGGCAGGGAGTAGGGAGGCGGCCTCCCTGCCTCCCCTCCAAAAAAAACTCTGTGATTTCCTCTGGGCAGGAGGGAGCCACGGCCAGCGGC
TGTCACACTTCATGGCTCTTACTCCACCTCTCTTGCTCCTCTCTGCAGGGACCATGACCTTGGGCTCCCCCAGGAAAGGCCTTCTGATGC
TGCTGATGGCCTTGGTGACCCAGGGAGACCCTGTGAAGCCGTCTCGGGGCCCGCTGGTGACCTGCACGTGTGAGAGCCCACATTGCAAGG
GGCCTACCTGCCGGGGGGCCTGGTGCACAGTAGTGCTGGTGCGGGAGGAGGGGAGGCACCCCCAGGAACATCGGGGCTGCGGGAACTTGC
ACAGGGAGCTCTGCAGGGGGCGCCCCACCGAGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGC
TGGAGGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGG
TGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCA
TCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGGACCTCCTGGACAGTGACTGCACCACAGGGAGTGGCTCAGGGCTCCCCTTCC
TGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGAGTGTGTGGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACG
GTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGAC
ACGACAACATCCTAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACG
GCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACC
TGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGC
AGTGTTGCATCGCCGACCTGGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCA
AGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCC
TGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACC
CCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGATCCTCTCCT
TCATCCTGCACACAATCGTGCGAGGATTCATCCACTCCGCTGTCGGGGGCCTGTACGCTGCCGTGTACCCCTCCACCCAGTTCGGCAGCC
TCACGGGACTGCAGTCTCTGATCAGCGCGCTCTTCGCCCTTCTGCAGCAGCCGCTGTTTCTGGCCATGATGGGTCCTCTCCAGGGAGACC
CTCTGTGGGTGAACGTGGGGCTGCTCCTTCTCAGCCTGCTGGGCTTCTGCCTCCCGCTCTACCTGATCTGCTACCGGCGCCAGCTGGAGC
GGCAGCTGCAGCAGAGGCAGGAGGATGACAAACTCTTCCTCAAAATCAACGGCTCGTCCAACCAGGAGGCCTTCGTGTAGTGGCTGCCGC
CTCGGAACTGCGGTCTCCTGCCTGTGCTTCAGTGACTGACCCCTGTCCTGCCCCTCCAGAGTACCCCACGCACCCCCAGGACCTTCGCCG
TCTCCGTGCCAGCGTTCACGCTCCCTCCCGGGGCCCTGCCTCGGAGCTCTGTGGTGGAAGGACGGGAGAGGGCCCCGGACACGCGCGTTT
TCTCCTGCCGAACGCAGGGGCTGCCCTGACTTTGCTCTGCCGCCCCCCGGGGACCCGGGGCCTGGGGTCTCTGTGGTGCCTGCAGCAGGA
GCCAGGAACGCCCGGCAGGCAGGCGCTCTCCCGCCAGTGTCTGGATTCTGCCTCTTGCCAAAGCAGAGGGGGCTGCCATCCCCTGCCTGC
CACCTGCCCCTCGGCTGCATGCCCACAGCCGTACCTGCCTGAGGACAAAGGCTTGCACTGTCTCGCCCGCGCCTGGCCCCCACCCCCTCC
CCGGCCAGCCTGAGGCTGCCTGAGGAAGGAAGGACCCGCTTCCTGTTGTCGGTGCTAATTCCTTTGTAATTCCAGCCCCCTGTCGCCTGT
CCAGGGCCTGCCCACCCGTTGGAGGCCGGTGGAGAAGCCCCACCTGGCTTATGCCCTGGAGAGGGTTTAGCGGGCTGGGTGGACCCCTCG
CCTCCTCCCCGAGGGCCAATGCCGCGGACACGTTTTCACTGTCACCCTCGTTCTGTCTGCCACCTGAAGGGAATTTGAGGACCGCCGCCA
GGGCACCCCGTACATACACACAGCTGCTTTTGTGGAGGTGGACGAAAGGCTGTGGCCGGCAGACGTGGAGGTCCAGGCCGGGGTGGGGAC
GTGGGTGGGTCCGAGGTGTGTGTGGGGTCGGGGTGGGCTCTAGGAGTTAGCCCTTATCCCCACTGACCAGGCGGGAGCCGCCAGGCCTGC
AGCTGGGCCAGTGCCCAGGAGCCATCCTGGCGTGGGGCCAGGAGCTTGTCCAAGGCCACAGGCCCACAGCACCCCCTGCCGGCGGGCTCC
GTGGGGCCCTGGAGCTGATGACGGGGGAGGCCCGTCCGCCTGGCCCACCAACCCGCCCACCTTGACTGCCCCCAGAAGTGTGTCTTGAGA
CCTCCTGGGCGTGCTTAGAGGGGTGAGTTGTGTTTGGATTTTTAGTTATTTTCTCTTCAGTTTTATTAGACTTCTTTTTTATAAAGCAAT
AAATCCATTTTCCTCCGGGTAAGGGATGCCCCTTCTGGCATATCAGTTAATAGCTGCATGTGCCTATTTTGAGCTTGAGAAGAAAAGGCA
GGACAAGATTCTCTGCCACCGACCAGCTCCAGCCGTGCCCAGCTGCTCTTCGTCTCTCTGGGGGACTGCTGACTCGGGAGGGACAGTGGG
CCAGGAAAAGACCTTCCTCCCCAACCCCCAAACAAACTGGGCTTGTGCAGACATCTTAGAAGTGTGAGCCACCCTCCTCTACCGATTTTC
CCAGCCAAACAGGCGAATCCTGGTCCCTTTCCATCCCTACACCCTTCCACAACCCTGAAGATTCCCGCTGGGTTCTTCTGCAGGCTCAGA
GCAGTTCAGGATGTGGGCGGCAGGGAGGGGGATGAAAGGAGAAGAGGAAAGGGCAGGTCCAGGCCACATTCAAGCTCCACATTAACAGCT
TGGGCGCCTGGAACACATATCTCCTAGGCTTTATTTCACTCAAATATTTAAAAAAAGACTGGGCGTGGTGGCTCACGCCTATAATCCCAG
CACTTTGGGAGGCCAAGGCAGGAGGCTCACCTGAGGTCAGGAGTTCGAGACCATCCTGACCAACATGGAGAAACCCCGTCTGTACTAAAA
ATAAACATTAATCGGGCGTGGTGGCGTGCGCCTGTAATCCCAACTACTCGGGAGCCTGAGGCAGGAGAATCGCTTGAACCGGGGAGACGG
AGATTGCCGTGAGTCGAGATCGCACCATTGCACTCCAGCCTGGGCAACAGAGCGAGGCTCCGTCTCAAAAAGAAAAAAAAAAAGAGAACG
AGATAAACATGCCCACTCCTGAGAACACTCGTTTTGTGATGTTAGTGGTTATTCTGATTTTCAAGAAAGTATTATAGTCAAGTTTGGGAA
AGGCTGAGTTAAAAGTCAAGCCTGTTTCCTTACAGCCAGCACTGACAGCACTTTGCCAACGCTCATGAGCTCCGTGGCTCCTCAGGAGCG
GGTGTGCTGTGCTGCCGAGGAACGGCTCGAACCATCAGAGCCACCAGCCTCCACGTGCGGCTCCATGATCACCCCCAGCAGAGGCTCCCG
GGTGCTGGTTCCAAATGGAGACTCCAGGTCTTGCCGCTGACCGGTGACTCTGCTGCCAGCATTTGAGACCCGCCATCACACAGGAGTTGC
AGATTCGGAGAAACCCTAACTAGCCAGGGTGCTGCCAGCTGGGAAAAGGCCGCCTTTTTTTTTTTTTTTTTTTTTTTGAGTTGGGGTCTT
GCTCTGCCATCCAGGCTGGAGTGCAGTGGTGCAACTGATAGCTCACCACGGCCTCCAACTCATGGGCTCAAGGGATCCTCCCACCTCGGC
CTCCTAAGTATCTGGGACTATAAGTGTGTGCCACCATGCCTGGCTAATTTTTTTTTTCTTTTTCATAAAGATGAATTCTTGCTATTTTGC
CCAGGCTGGTCTGGAACTCCTGGGCTGAAGCAATTCTCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGTCACAATGCCTA
GCCAAAAAGCCAGTCTTGAGATGGGGAAGACGTGGCCCGTGCTGTCCCCAGCAGTGCCCAGTCCCAGCCAAAGTGGGCAGTGCTGCCTCA
CTCTCCCACCCACCCTCAGGGTGTGGCACTTACTGGGAAGAAGCAGGCATTGAGAAACAGAATTGAGGGGGGGAAACAGTCCAGGGCCAA
CAGTGCTTGGGGATTGAGGCCTGAAAATGCGAGCAGGGTACAGAGGCTGTGGCTGGCCAGATGGGTCGGGTGCCCCCTGCACTCCCACCC
CCTAGTCAGGGGTCACCCATCCTACTTTGCCTTGTGTGGAGCTGACAGGTGACATGTTTTCCTATTGTTGTCCTTGACTTGATAACAATC
TGGGAGTTAAACACATATGATCATCCCTGCTTTACAACTGAAAAACGAGGCCTAGAGATACTATCATCATATACACCTGAAAAACGAGGC
CTGGAGCGATGGAGGAGCTTGTTCAAGGTCAGAGCCAGCACTCATATATGGGTCTTAAGACACTGGAGCAGCCAAGGGCCTCTAGACCAG
GACATTCCACTCGGAGCAGCAGCTCAGGGGCCACCAGGCCTCTGTGGCAGGGGGACCTCTGTGGCAGGGGGGACCTCTGTGGCGGGGGGG
GGGCCTCTGTGGCAGGGGGGTCACAGCCCAAGGAAGGGGAGCAGGCCCAGGCATGGTTTCCGTTTCTGGGAGCCAAGAGCCTTCTCAGAA
GAGGGGGAGAGAGCTACTGCATGGAATCATTTGGGCCCTGGAGGCTGATGGGTACTTGGGGGAGCAATCCCTGGTGACCCCAACCAGCAA
GACAAGTGCCCTGTGAAGGGGAAGGGACTACAGCTGATCAAAGGAGCAGGCACCAGTGGCCGGGCCTCCCGTCTGCCCCTCATCCTCCAG
GCTCTGGCGGGAAGGAGCAGGAAGGGCTCCCTGCCCTTGGGGTTTTGATCAGTGAGGAGGGGGGCTTGGGTCTGAGTCTGGGTCTGGGTC
TGCTGCCGAAACACTGCCCCCAGTCCCTCTCCTCACTAGACTCTGGGGTCTAGGCGTGTCTTTGTGGTCGGCCTTCTCCAAACCCTCTAG
GCCTCTGTCTGCAGCTGCTGCTGCCTGGACCTATACACAAGGTCCCACCCCTCACCGGGGCCAAAGACGTGGTTGCAGGCCCTGGTGGAT
CCTTTCTGTTTTGCTCCATCCCCGTCCCCTCTTGCACCCAGCATCGTCCTGGTCAGAACTTCCGTTTAAACCTTCCTTGCCTGCCGTGCA
CTCCGAGGGGGGCGTCACTTTGCCATAGGCCCCAGGGCTGAAAATGGCGGGACATCCAGTATTGGGCTCACGTGCATAAGACTGTCCCAG
ACAGCAGCACAATCACGTTCAGCCAAGTGGAGTTTCCGACGCACTTGTGTGGCAGCCGCGTGAATGTGAGCCGATATGCAGCTGGGAGGG
GTTGTGGGCCTCCTGCGGTGAGGGGCTCCTGCCAGGAGCTCTGAGAAGCCTCCACAGAATCAGCCGTCGGGCTCCTTCAGCAGCAGCTCC
CCTTATCTGTGCCAACGACTGGGGGCCTAACTCAAGGGTGCCAGCCCGTCTTCCGCCAATACAGACTGTGGGATTCTGAGAGTTAGGAGC
CTGGGGTCCCCTGGGGTGGGGTGGTCAGGGTGAGCAGGTGGGCTCTGTGAGCCTGTTTCCCCATGCCCTGACTCACCCCAATCCCTGGGT
GAGGACAGAGCTCCTGAAGGCCACTGAAGGAGGTGCAGCACACTCCACCTGGGTGGCCTTCCGCAGCTCAGCCCTCTTCCTGCCAGCAGG
AAGCCTCTGCCTGTGCTCCTTAAGTTAGCCATCCTCACCCCCTCCGGGCAGCTCTGAGACTGAGCCAGGGCCACTAGCAGCACCCAGACC
TCGACCCTTCTCAGACCGAGGCGCCACCACCCCAGGCCGAGGAGGCAAGGAGGGAAGACCAAAGTCTAGAGGACTGTCTTGGTGGCCCTG
GGCGAGTCTTGAACTTTGGTGCCATCATCTGCAAAAGGGAGGAAAGAATGCCTGCGTGGTGCAGCTACGTGGATACGCAGTGAAGACCCG
CATGGTGGGACGCCTGGCACTTAACAATGGTAGCATTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG
CGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC
GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA
GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAACAATGGTAGCATCGTTTTCAGTGC
CCAGGAAGAAGGCAGCTGGGACAGGGAAAGGGCCACCACACCACACCCAAGCCCATACAACAGGAGAGCCACTTTCAGCAGCTCTGAGCA
GGACAGACTTGTGGCCAAGTCAAGAAAGTAAGGTCTGGTCCCAGCGAGGTGGCTCATCCCTGTAATCCCAGTGCTTTGGGAGGCCGAAGC
GGGGGCGGGGTGGATCACTTGAGGTCAGGGGTTTGAGACCAGCCTGACCAACATGGTGAAACCTCAACTCTACTAAAAATACAAAAATTA
GGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCAACGT
GGCTAACACAGTGAAACCCCATCTCTACTAAAAATACGAAAAAAAAAAATTAGCTGGGCGTGGTGGTGGGTACCTGTAGTCCCAGCTACT
TGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGTGAAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGAC
AGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGTAAGGTCTGTATCTGCTGACCCCACCCTTCTCCGAAGCCCTCTCCG
AGCAAAGCCTTAAGAAACTCTTCTCTCGTTCACTTTTCTTTTGTGGCTTTCACGTTTTGGTAAGACTTGGCCAAATAGCTGCTCGAGATA
ATCAATCACTGGTGGACAAGTTTCTGCTGAGTGAGGTTTCTGCTGAGTGGGGCGACTCAAGGCACGGTCACGTAGGCAGCACCTGTACAC
CGCATCCTCATACAGCTGCGGGACCGTGCCTCTGACTGTGTGCGTGTGTGTTTATCTAAGTGTGAGATGCATCCGGGCATGTCAGGGTGT
GTACATGTTGGGAAGACTGTGTAGATTTCTTGTGTGCCGCTCTCTGAATGGAGGAGAGGGGAAGCGTCTTACCTCGCTGAATCCCTTTCC
ATTGCTGGAAAGAACACCTGGGCAGGAGCGGCCCCAAGACCCCGCCCAGGCCCTCGGAAGGGAGCCTGAAGGGTTAATCCGTACCCTGTA
TTAACCAGGGTCAACCCAGCGGCTGACCCGCCTCTTCCCTGCTCCTTTGCCGTTTCTAGCACCTGGCTTACTTCCTGGCACACAGTGAGC

>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(transcript)=3080nt_BP=1520nt
CGGCAGGGAGTAGGGAGGCGGCCTCCCTGCCTCCCCTCCAAAAAAAACTCTGTGATTTCCTCTGGGCAGGAGGGAGCCACGGCCAGCGGC
TGTCACACTTCATGGCTCTTACTCCACCTCTCTTGCTCCTCTCTGCAGGGACCATGACCTTGGGCTCCCCCAGGAAAGGCCTTCTGATGC
TGCTGATGGCCTTGGTGACCCAGGGAGACCCTGTGAAGCCGTCTCGGGGCCCGCTGGTGACCTGCACGTGTGAGAGCCCACATTGCAAGG
GGCCTACCTGCCGGGGGGCCTGGTGCACAGTAGTGCTGGTGCGGGAGGAGGGGAGGCACCCCCAGGAACATCGGGGCTGCGGGAACTTGC
ACAGGGAGCTCTGCAGGGGGCGCCCCACCGAGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGC
TGGAGGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGG
TGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCA
TCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGGACCTCCTGGACAGTGACTGCACCACAGGGAGTGGCTCAGGGCTCCCCTTCC
TGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGAGTGTGTGGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACG
GTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGAC
ACGACAACATCCTAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACG
GCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACC
TGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGC
AGTGTTGCATCGCCGACCTGGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCA
AGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCC
TGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACC
CCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGATCCTCTCCT
TCATCCTGCACACAATCGTGCGAGGATTCATCCACTCCGCTGTCGGGGGCCTGTACGCTGCCGTGTACCCCTCCACCCAGTTCGGCAGCC
TCACGGGACTGCAGTCTCTGATCAGCGCGCTCTTCGCCCTTCTGCAGCAGCCGCTGTTTCTGGCCATGATGGGTCCTCTCCAGGGAGACC
CTCTGTGGGTGAACGTGGGGCTGCTCCTTCTCAGCCTGCTGGGCTTCTGCCTCCCGCTCTACCTGATCTGCTACCGGCGCCAGCTGGAGC
GGCAGCTGCAGCAGAGGCAGGAGGATGACAAACTCTTCCTCAAAATCAACGGCTCGTCCAACCAGGAGGCCTTCGTGTAGTGGCTGCCGC
CTCGGAACTGCGGTCTCCTGCCTGTGCTTCAGTGACTGACCCCTGTCCTGCCCCTCCAGAGTACCCCACGCACCCCCAGGACCTTCGCCG
TCTCCGTGCCAGCGTTCACGCTCCCTCCCGGGGCCCTGCCTCGGAGCTCTGTGGTGGAAGGACGGGAGAGGGCCCCGGACACGCGCGTTT
TCTCCTGCCGAACGCAGGGGCTGCCCTGACTTTGCTCTGCCGCCCCCCGGGGACCCGGGGCCTGGGGTCTCTGTGGTGCCTGCAGCAGGA
GCCAGGAACGCCCGGCAGGCAGGCGCTCTCCCGCCAGTGTCTGGATTCTGCCTCTTGCCAAAGCAGAGGGGGCTGCCATCCCCTGCCTGC
CACCTGCCCCTCGGCTGCATGCCCACAGCCGTACCTGCCTGAGGACAAAGGCTTGCACTGTCTCGCCCGCGCCTGGCCCCCACCCCCTCC
CCGGCCAGCCTGAGGCTGCCTGAGGAAGGAAGGACCCGCTTCCTGTTGTCGGTGCTAATTCCTTTGTAATTCCAGCCCCCTGTCGCCTGT
CCAGGGCCTGCCCACCCGTTGGAGGCCGGTGGAGAAGCCCCACCTGGCTTATGCCCTGGAGAGGGTTTAGCGGGCTGGGTGGACCCCTCG
CCTCCTCCCCGAGGGCCAATGCCGCGGACACGTTTTCACTGTCACCCTCGTTCTGTCTGCCACCTGAAGGGAATTTGAGGACCGCCGCCA
GGGCACCCCGTACATACACACAGCTGCTTTTGTGGAGGTGGACGAAAGGCTGTGGCCGGCAGACGTGGAGGTCCAGGCCGGGGTGGGGAC
GTGGGTGGGTCCGAGGTGTGTGTGGGGTCGGGGTGGGCTCTAGGAGTTAGCCCTTATCCCCACTGACCAGGCGGGAGCCGCCAGGCCTGC
AGCTGGGCCAGTGCCCAGGAGCCATCCTGGCGTGGGGCCAGGAGCTTGTCCAAGGCCACAGGCCCACAGCACCCCCTGCCGGCGGGCTCC
GTGGGGCCCTGGAGCTGATGACGGGGGAGGCCCGTCCGCCTGGCCCACCAACCCGCCCACCTTGACTGCCCCCAGAAGTGTGTCTTGAGA
CCTCCTGGGCGTGCTTAGAGGGGTGAGTTGTGTTTGGATTTTTAGTTATTTTCTCTTCAGTTTTATTAGACTTCTTTTTTATAAAGCAAT

>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

--------------------------------------------------------------
>1915_1915_11_ACVRL1-SLC43A2_ACVRL1_chr12_52312899_ENST00000550683_SLC43A2_chr17_1481617_ENST00000412517_length(transcript)=1983nt_BP=1520nt
CGGCAGGGAGTAGGGAGGCGGCCTCCCTGCCTCCCCTCCAAAAAAAACTCTGTGATTTCCTCTGGGCAGGAGGGAGCCACGGCCAGCGGC
TGTCACACTTCATGGCTCTTACTCCACCTCTCTTGCTCCTCTCTGCAGGGACCATGACCTTGGGCTCCCCCAGGAAAGGCCTTCTGATGC
TGCTGATGGCCTTGGTGACCCAGGGAGACCCTGTGAAGCCGTCTCGGGGCCCGCTGGTGACCTGCACGTGTGAGAGCCCACATTGCAAGG
GGCCTACCTGCCGGGGGGCCTGGTGCACAGTAGTGCTGGTGCGGGAGGAGGGGAGGCACCCCCAGGAACATCGGGGCTGCGGGAACTTGC
ACAGGGAGCTCTGCAGGGGGCGCCCCACCGAGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGC
TGGAGGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGG
TGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCA
TCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGGACCTCCTGGACAGTGACTGCACCACAGGGAGTGGCTCAGGGCTCCCCTTCC
TGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGAGTGTGTGGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACG
GTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGAC
ACGACAACATCCTAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACG
GCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACC
TGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGC
AGTGTTGCATCGCCGACCTGGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCA
AGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCC
TGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACC
CCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGATCCTCTCCT
TCATCCTGCACACAATCGTGCGAGGATTCATCCACTCCGCTGTCGGGGGCCTGTACGCTGCCGTGTACCCCTCCACCCAGTTCGGCAGCC
TCACGGGACTGCAGTCTCTGATCAGCGCGCTCTTCGCCCTTCTGCAGCAGCCGCTGTTTCTGGCCATGATGGGTCCTCTCCAGGGAGACC
CTCTGTGGGTGAACGTGGGGCTGCTCCTTCTCAGCCTGCTGGGCTTCTGCCTCCCGCTCTACCTGATCTGCTACCGGCGCCAGCTGGAGC
GGCAGCTGCAGCAGAGGCAGGAGGATGACAAACTCTTCCTCAAAATCAACGGCTCGTCCAACCAGGAGGCCTTCGTGTAGTGGCTGCCGC
CTCGGAACTGCGGTCTCCTGCCTGTGCTTCAGTGACTGACCCCTGTCCTGCCCCTCCAGAGTACCCCACGCACCCCCAGGACCTTCGCCG

>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

--------------------------------------------------------------
>1915_1915_12_ACVRL1-SLC43A2_ACVRL1_chr12_52312899_ENST00000550683_SLC43A2_chr17_1481617_ENST00000571650_length(transcript)=3105nt_BP=1520nt
CGGCAGGGAGTAGGGAGGCGGCCTCCCTGCCTCCCCTCCAAAAAAAACTCTGTGATTTCCTCTGGGCAGGAGGGAGCCACGGCCAGCGGC
TGTCACACTTCATGGCTCTTACTCCACCTCTCTTGCTCCTCTCTGCAGGGACCATGACCTTGGGCTCCCCCAGGAAAGGCCTTCTGATGC
TGCTGATGGCCTTGGTGACCCAGGGAGACCCTGTGAAGCCGTCTCGGGGCCCGCTGGTGACCTGCACGTGTGAGAGCCCACATTGCAAGG
GGCCTACCTGCCGGGGGGCCTGGTGCACAGTAGTGCTGGTGCGGGAGGAGGGGAGGCACCCCCAGGAACATCGGGGCTGCGGGAACTTGC
ACAGGGAGCTCTGCAGGGGGCGCCCCACCGAGTTCGTCAACCACTACTGCTGCGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGC
TGGAGGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGCCCTGG
TGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCA
TCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGGACCTCCTGGACAGTGACTGCACCACAGGGAGTGGCTCAGGGCTCCCCTTCC
TGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGAGTGTGTGGGAAAAGGCCGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACG
GTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGATCTATAACACAGTGTTGCTCAGAC
ACGACAACATCCTAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACG
GCTCCCTCTACGACTTTCTGCAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACC
TGCACGTGGAGATCTTCGGTACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGC
AGTGTTGCATCGCCGACCTGGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCA
AGCGGTACATGGCACCCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCC
TGGTGCTGTGGGAGATTGCCCGCCGGACCATCGTGAATGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACC
CCAGCTTTGAGGACATGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCGATCCTCTCCT
TCATCCTGCACACAATCGTGCGAGGATTCATCCACTCCGCTGTCGGGGGCCTGTACGCTGCCGTGTACCCCTCCACCCAGTTCGGCAGCC
TCACGGGACTGCAGTCTCTGATCAGCGCGCTCTTCGCCCTTCTGCAGCAGCCGCTGTTTCTGGCCATGATGGGTCCTCTCCAGGGAGACC
CTCTGTGGGTGAACGTGGGGCTGCTCCTTCTCAGCCTGCTGGGCTTCTGCCTCCCGCTCTACCTGATCTGCTACCGGCGCCAGCTGGAGC
GGCAGCTGCAGCAGAGGCAGGAGGATGACAAACTCTTCCTCAAAATCAACGGCTCGTCCAACCAGGAGGCCTTCGTGTAGTGGCTGCCGC
CTCGGAACTGCGGTCTCCTGCCTGTGCTTCAGTGACTGACCCCTGTCCTGCCCCTCCAGAGTACCCCACGCACCCCCAGGACCTTCGCCG
TCTCCGTGCCAGCGTTCACGCTCCCTCCCGGGGCCCTGCCTCGGAGCTCTGTGGTGGAAGGACGGGAGAGGGCCCCGGACACGCGCGTTT
TCTCCTGCCGAACGCAGGGGCTGCCCTGACTTTGCTCTGCCGCCCCCCGGGGACCCGGGGCCTGGGGTCTCTGTGGTGCCTGCAGCAGGA
GCCAGGAACGCCCGGCAGGCAGGCGCTCTCCCGCCAGTGTCTGGATTCTGCCTCTTGCCAAAGCAGAGGGGGCTGCCATCCCCTGCCTGC
CACCTGCCCCTCGGCTGCATGCCCACAGCCGTACCTGCCTGAGGACAAAGGCTTGCACTGTCTCGCCCGCGCCTGGCCCCCACCCCCTCC
CCGGCCAGCCTGAGGCTGCCTGAGGAAGGAAGGACCCGCTTCCTGTTGTCGGTGCTAATTCCTTTGTAATTCCAGCCCCCTGTCGCCTGT
CCAGGGCCTGCCCACCCGTTGGAGGCCGGTGGAGAAGCCCCACCTGGCTTATGCCCTGGAGAGGGTTTAGCGGGCTGGGTGGACCCCTCG
CCTCCTCCCCGAGGGCCAATGCCGCGGACACGTTTTCACTGTCACCCTCGTTCTGTCTGCCACCTGAAGGGAATTTGAGGACCGCCGCCA
GGGCACCCCGTACATACACACAGCTGCTTTTGTGGAGGTGGACGAAAGGCTGTGGCCGGCAGACGTGGAGGTCCAGGCCGGGGTGGGGAC
GTGGGTGGGTCCGAGGTGTGTGTGGGGTCGGGGTGGGCTCTAGGAGTTAGCCCTTATCCCCACTGACCAGGCGGGAGCCGCCAGGCCTGC
AGCTGGGCCAGTGCCCAGGAGCCATCCTGGCGTGGGGCCAGGAGCTTGTCCAAGGCCACAGGCCCACAGCACCCCCTGCCGGCGGGCTCC
GTGGGGCCCTGGAGCTGATGACGGGGGAGGCCCGTCCGCCTGGCCCACCAACCCGCCCACCTTGACTGCCCCCAGAAGTGTGTCTTGAGA
CCTCCTGGGCGTGCTTAGAGGGGTGAGTTGTGTTTGGATTTTTAGTTATTTTCTCTTCAGTTTTATTAGACTTCTTTTTTATAAAGCAAT

>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 Gene PPI Analysis for ACVRL1-SLC43A2


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for ACVRL1-SLC43A2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for ACVRL1-SLC43A2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACVRL1C1838163OSLER-RENDU-WEBER SYNDROME 223CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneACVRL1C1832529HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION11CLINGEN
HgeneACVRL1C0340543Familial primary pulmonary hypertension6GENOMICS_ENGLAND;ORPHANET
HgeneACVRL1C1701939Familial pulmonary arterial hypertension5ORPHANET
HgeneACVRL1C0005779Blood Coagulation Disorders1GENOMICS_ENGLAND
HgeneACVRL1C0014591Epistaxis1GENOMICS_ENGLAND
HgeneACVRL1C0020542Pulmonary Hypertension1CTD_human
HgeneACVRL1C0039445Hereditary hemorrhagic telangiectasia1CTD_human
HgeneACVRL1C0039446Telangiectasis1GENOMICS_ENGLAND
HgeneACVRL1C0155675Pulmonary Arteriovenous Fistulas1GENOMICS_ENGLAND
HgeneACVRL1C0241790Congenital pulmonary arteriovenous malformation1GENOMICS_ENGLAND
HgeneACVRL1C0520557Arteriovenous malformation of liver1GENOMICS_ENGLAND
HgeneACVRL1C11509292-oxo-hept-3-ene-1,7-dioate hydratase activity1GENOMICS_ENGLAND
HgeneACVRL1C1458140Bleeding tendency1GENOMICS_ENGLAND
HgeneACVRL1C1857690Pulmonary arteriovenous malformation1GENOMICS_ENGLAND
HgeneACVRL1C2973725Pulmonary arterial hypertension1GENOMICS_ENGLAND
HgeneACVRL1C3203102Idiopathic pulmonary arterial hypertension1GENOMICS_ENGLAND
HgeneACVRL1C3850148Vascular Remodeling1CTD_human
HgeneACVRL1C3852953Pulmonary Arterial Remodeling1CTD_human
HgeneACVRL1C4551861Telangiectasia, Hereditary Hemorrhagic, Type 11CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human