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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:ACVRL1-SLC43A2 (FusionGDB2 ID:HG94TG124935) |
Fusion Gene Summary for ACVRL1-SLC43A2 |
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Fusion gene information | Fusion gene name: ACVRL1-SLC43A2 | Fusion gene ID: hg94tg124935 | 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 | ('ACVRL1')('SLC43A2') 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 | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000388922, ENST00000419526, ENST00000550683, ENST00000550084, | ||
Fusion gene scores | * 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 | PubMed: ACVRL1 [Title/Abstract] AND SLC43A2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | 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) |
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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 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * 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 Gene ORF analysis for ACVRL1-SLC43A2 |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-intron | ENST00000388922 | ENST00000574274 | ACVRL1 | chr12 | 52312899 | + | SLC43A2 | chr17 | 1481617 | - |
5CDS-intron | ENST00000419526 | ENST00000574274 | ACVRL1 | chr12 | 52312899 | + | SLC43A2 | chr17 | 1481617 | - |
5CDS-intron | ENST00000550683 | ENST00000574274 | ACVRL1 | chr12 | 52312899 | + | SLC43A2 | chr17 | 1481617 | - |
In-frame | ENST00000388922 | ENST00000301335 | ACVRL1 | chr12 | 52312899 | + | SLC43A2 | chr17 | 1481617 | - |
In-frame | ENST00000388922 | ENST00000382147 | ACVRL1 | chr12 | 52312899 | + | SLC43A2 | chr17 | 1481617 | - |
In-frame | ENST00000388922 | ENST00000412517 | ACVRL1 | chr12 | 52312899 | + | SLC43A2 | chr17 | 1481617 | - |
In-frame | ENST00000388922 | ENST00000571650 | ACVRL1 | chr12 | 52312899 | + | SLC43A2 | chr17 | 1481617 | - |
In-frame | ENST00000419526 | ENST00000301335 | ACVRL1 | chr12 | 52312899 | + | SLC43A2 | chr17 | 1481617 | - |
In-frame | ENST00000419526 | ENST00000382147 | ACVRL1 | chr12 | 52312899 | + | SLC43A2 | chr17 | 1481617 | - |
In-frame | ENST00000419526 | ENST00000412517 | ACVRL1 | chr12 | 52312899 | + | SLC43A2 | chr17 | 1481617 | - |
In-frame | ENST00000419526 | ENST00000571650 | ACVRL1 | chr12 | 52312899 | + | SLC43A2 | chr17 | 1481617 | - |
In-frame | ENST00000550683 | ENST00000301335 | ACVRL1 | chr12 | 52312899 | + | SLC43A2 | chr17 | 1481617 | - |
In-frame | ENST00000550683 | ENST00000382147 | ACVRL1 | chr12 | 52312899 | + | SLC43A2 | chr17 | 1481617 | - |
In-frame | ENST00000550683 | ENST00000412517 | ACVRL1 | chr12 | 52312899 | + | SLC43A2 | chr17 | 1481617 | - |
In-frame | ENST00000550683 | ENST00000571650 | ACVRL1 | chr12 | 52312899 | + | SLC43A2 | chr17 | 1481617 | - |
intron-3CDS | ENST00000550084 | ENST00000301335 | ACVRL1 | chr12 | 52312899 | + | SLC43A2 | chr17 | 1481617 | - |
intron-3CDS | ENST00000550084 | ENST00000382147 | ACVRL1 | chr12 | 52312899 | + | SLC43A2 | chr17 | 1481617 | - |
intron-3CDS | ENST00000550084 | ENST00000412517 | ACVRL1 | chr12 | 52312899 | + | SLC43A2 | chr17 | 1481617 | - |
intron-3CDS | ENST00000550084 | ENST00000571650 | ACVRL1 | chr12 | 52312899 | + | SLC43A2 | chr17 | 1481617 | - |
intron-intron | ENST00000550084 | ENST00000574274 | ACVRL1 | chr12 | 52312899 | + | SLC43A2 | chr17 | 1481617 | - |
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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 |
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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 Genomic Features for ACVRL1-SLC43A2 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for ACVRL1-SLC43A2 |
![]() 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. |
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Hgene | Tgene |
. | . |
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}. |
![]() * 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. |
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 | + | 9 | 10 | 172_201 | 459 | 504.0 | Domain | GS |
Hgene | ACVRL1 | chr12:52312899 | chr17:1481617 | ENST00000388922 | + | 9 | 10 | 208_216 | 459 | 504.0 | Nucleotide binding | ATP |
Hgene | ACVRL1 | chr12:52312899 | chr17:1481617 | ENST00000388922 | + | 9 | 10 | 73_76 | 459 | 504.0 | Region | Note=Mediates specificity for BMP ligand |
Hgene | ACVRL1 | chr12:52312899 | chr17:1481617 | ENST00000388922 | + | 9 | 10 | 22_118 | 459 | 504.0 | Topological domain | Extracellular |
Hgene | ACVRL1 | chr12:52312899 | chr17:1481617 | ENST00000388922 | + | 9 | 10 | 119_141 | 459 | 504.0 | Transmembrane | Helical |
Tgene | SLC43A2 | chr12:52312899 | chr17:1481617 | ENST00000301335 | 10 | 14 | 462_482 | 450 | 570.0 | Transmembrane | Helical | |
Tgene | SLC43A2 | chr12:52312899 | chr17:1481617 | ENST00000301335 | 10 | 14 | 490_510 | 450 | 570.0 | Transmembrane | Helical | |
Tgene | SLC43A2 | chr12:52312899 | chr17:1481617 | ENST00000301335 | 10 | 14 | 516_536 | 450 | 570.0 | Transmembrane | Helical | |
Tgene | SLC43A2 | chr12:52312899 | chr17:1481617 | ENST00000571650 | 11 | 15 | 462_482 | 454 | 574.0 | Transmembrane | Helical | |
Tgene | SLC43A2 | chr12:52312899 | chr17:1481617 | ENST00000571650 | 11 | 15 | 490_510 | 454 | 574.0 | Transmembrane | Helical | |
Tgene | SLC43A2 | chr12:52312899 | chr17:1481617 | ENST00000571650 | 11 | 15 | 516_536 | 454 | 574.0 | Transmembrane | Helical |
- In-frame and 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 | + | 9 | 10 | 202_492 | 459 | 504.0 | Domain | Protein kinase |
Hgene | ACVRL1 | chr12:52312899 | chr17:1481617 | ENST00000388922 | + | 9 | 10 | 142_503 | 459 | 504.0 | Topological domain | Cytoplasmic |
Tgene | SLC43A2 | chr12:52312899 | chr17:1481617 | ENST00000301335 | 10 | 14 | 409_413 | 450 | 570.0 | Compositional bias | Note=Poly-Lys | |
Tgene | SLC43A2 | chr12:52312899 | chr17:1481617 | ENST00000571650 | 11 | 15 | 409_413 | 454 | 574.0 | Compositional bias | Note=Poly-Lys | |
Tgene | SLC43A2 | chr12:52312899 | chr17:1481617 | ENST00000301335 | 10 | 14 | 120_140 | 450 | 570.0 | Transmembrane | Helical | |
Tgene | SLC43A2 | chr12:52312899 | chr17:1481617 | ENST00000301335 | 10 | 14 | 143_163 | 450 | 570.0 | Transmembrane | Helical | |
Tgene | SLC43A2 | chr12:52312899 | chr17:1481617 | ENST00000301335 | 10 | 14 | 177_197 | 450 | 570.0 | Transmembrane | Helical | |
Tgene | SLC43A2 | chr12:52312899 | chr17:1481617 | ENST00000301335 | 10 | 14 | 203_223 | 450 | 570.0 | Transmembrane | Helical | |
Tgene | SLC43A2 | chr12:52312899 | chr17:1481617 | ENST00000301335 | 10 | 14 | 20_40 | 450 | 570.0 | Transmembrane | Helical | |
Tgene | SLC43A2 | chr12:52312899 | chr17:1481617 | ENST00000301335 | 10 | 14 | 323_345 | 450 | 570.0 | Transmembrane | Helical | |
Tgene | SLC43A2 | chr12:52312899 | chr17:1481617 | ENST00000301335 | 10 | 14 | 365_385 | 450 | 570.0 | Transmembrane | Helical | |
Tgene | SLC43A2 | chr12:52312899 | chr17:1481617 | ENST00000301335 | 10 | 14 | 435_455 | 450 | 570.0 | Transmembrane | Helical | |
Tgene | SLC43A2 | chr12:52312899 | chr17:1481617 | ENST00000301335 | 10 | 14 | 90_110 | 450 | 570.0 | Transmembrane | Helical | |
Tgene | SLC43A2 | chr12:52312899 | chr17:1481617 | ENST00000571650 | 11 | 15 | 120_140 | 454 | 574.0 | Transmembrane | Helical | |
Tgene | SLC43A2 | chr12:52312899 | chr17:1481617 | ENST00000571650 | 11 | 15 | 143_163 | 454 | 574.0 | Transmembrane | Helical | |
Tgene | SLC43A2 | chr12:52312899 | chr17:1481617 | ENST00000571650 | 11 | 15 | 177_197 | 454 | 574.0 | Transmembrane | Helical | |
Tgene | SLC43A2 | chr12:52312899 | chr17:1481617 | ENST00000571650 | 11 | 15 | 203_223 | 454 | 574.0 | Transmembrane | Helical | |
Tgene | SLC43A2 | chr12:52312899 | chr17:1481617 | ENST00000571650 | 11 | 15 | 20_40 | 454 | 574.0 | Transmembrane | Helical | |
Tgene | SLC43A2 | chr12:52312899 | chr17:1481617 | ENST00000571650 | 11 | 15 | 323_345 | 454 | 574.0 | Transmembrane | Helical | |
Tgene | SLC43A2 | chr12:52312899 | chr17:1481617 | ENST00000571650 | 11 | 15 | 365_385 | 454 | 574.0 | Transmembrane | Helical | |
Tgene | SLC43A2 | chr12:52312899 | chr17:1481617 | ENST00000571650 | 11 | 15 | 435_455 | 454 | 574.0 | Transmembrane | Helical | |
Tgene | SLC43A2 | chr12:52312899 | chr17:1481617 | ENST00000571650 | 11 | 15 | 90_110 | 454 | 574.0 | Transmembrane | Helical |
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Fusion Gene Sequence for ACVRL1-SLC43A2 |
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>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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for ACVRL1-SLC43A2 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for ACVRL1-SLC43A2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ACVRL1 | C1838163 | OSLER-RENDU-WEBER SYNDROME 2 | 23 | CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | ACVRL1 | C1832529 | HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION | 11 | CLINGEN |
Hgene | ACVRL1 | C0340543 | Familial primary pulmonary hypertension | 6 | GENOMICS_ENGLAND;ORPHANET |
Hgene | ACVRL1 | C1701939 | Familial pulmonary arterial hypertension | 5 | ORPHANET |
Hgene | ACVRL1 | C0005779 | Blood Coagulation Disorders | 1 | GENOMICS_ENGLAND |
Hgene | ACVRL1 | C0014591 | Epistaxis | 1 | GENOMICS_ENGLAND |
Hgene | ACVRL1 | C0020542 | Pulmonary Hypertension | 1 | CTD_human |
Hgene | ACVRL1 | C0039445 | Hereditary hemorrhagic telangiectasia | 1 | CTD_human |
Hgene | ACVRL1 | C0039446 | Telangiectasis | 1 | GENOMICS_ENGLAND |
Hgene | ACVRL1 | C0155675 | Pulmonary Arteriovenous Fistulas | 1 | GENOMICS_ENGLAND |
Hgene | ACVRL1 | C0241790 | Congenital pulmonary arteriovenous malformation | 1 | GENOMICS_ENGLAND |
Hgene | ACVRL1 | C0520557 | Arteriovenous malformation of liver | 1 | GENOMICS_ENGLAND |
Hgene | ACVRL1 | C1150929 | 2-oxo-hept-3-ene-1,7-dioate hydratase activity | 1 | GENOMICS_ENGLAND |
Hgene | ACVRL1 | C1458140 | Bleeding tendency | 1 | GENOMICS_ENGLAND |
Hgene | ACVRL1 | C1857690 | Pulmonary arteriovenous malformation | 1 | GENOMICS_ENGLAND |
Hgene | ACVRL1 | C2973725 | Pulmonary arterial hypertension | 1 | GENOMICS_ENGLAND |
Hgene | ACVRL1 | C3203102 | Idiopathic pulmonary arterial hypertension | 1 | GENOMICS_ENGLAND |
Hgene | ACVRL1 | C3850148 | Vascular Remodeling | 1 | CTD_human |
Hgene | ACVRL1 | C3852953 | Pulmonary Arterial Remodeling | 1 | CTD_human |
Hgene | ACVRL1 | C4551861 | Telangiectasia, Hereditary Hemorrhagic, Type 1 | 1 | CTD_human |
Tgene | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |