UTHEALTH HOME    ABOUT SBMI    A-Z    WEBMAIL    INSIDE THE UNIVERSITY
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use

Center for Computational Systems Medicine level3
leaf

Fusion Gene Summary

leaf

Fusion Gene Sample Information

leaf

Fusion ORF Analysis

leaf

Fusion Amino Acid Sequences

leaf

Fusion Protein Functional Features

leaf

Fusion Protein Structure

leaf

pLDDT scores

leaf

Ramachandran Plot of Fusion Protein Structure

leaf

Potential Active Site Information

leaf

Potentially Interacting Small Molecules through Virtual Screening

leaf

Biochemical Features of Small Molecules with ADME

leaf

Drug Toxicity Information

leaf

Fusion Protein-Protein Interaction

leaf

Related drugs with this fusion protein

leaf

Related disease with this fusion protein

Fusion Protein:COL1A1-PDGFB

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: COL1A1-PDGFB
FusionPDB ID: 18143
FusionGDB2.0 ID: 18143
HgeneTgene
Gene symbol

COL1A1

PDGFB

Gene ID

1277

5155

Gene namecollagen type I alpha 1 chainplatelet derived growth factor subunit B
SynonymsCAFYD|EDSARTH1|EDSC|OI1|OI2|OI3|OI4IBGC5|PDGF-2|PDGF2|SIS|SSV|c-sis
Cytomap

17q21.33

22q13.1

Type of geneprotein-codingprotein-coding
Descriptioncollagen alpha-1(I) chainalpha-1 type I collagenalpha1(I) procollagencollagen alpha 1 chain type Icollagen alpha-1(I) chain preproproteincollagen of skin, tendon and bone, alpha-1 chaincollagen, type I, alpha 1pro-alpha-1 collagen type 1type I proplatelet-derived growth factor subunit BPDGF subunit BPDGF, B chainbecaplerminepididymis secretory sperm binding proteinplatelet-derived growth factor 2platelet-derived growth factor B chainplatelet-derived growth factor beta polypeptide (simian sa
Modification date2020032220200313
UniProtAcc

P02452

P01127

Ensembl transtripts involved in fusion geneENST idsENST00000225964, ENST00000331163, 
ENST00000381551, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score56 X 95 X 16=851201 X 10 X 3=30
# samples 8619
** MAII scorelog2(86/85120*10)=-6.62901768079909
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(19/30*10)=2.66296501272243
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

PubMed: COL1A1 [Title/Abstract] AND PDGFB [Title/Abstract] AND fusion [Title/Abstract]

Uterine and vaginal sarcomas resembling fibrosarcoma: a clinicopathological and molecular analysis of 13 cases showing common NTRK-rearrangements and the description of a COL1A1-PDGFB fusion novel to uterine neoplasms (pmid: 30877273)
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)COL1A1(48264844)-PDGFB(39631879), # samples:3
Anticipated loss of major functional domain due to fusion event.COL1A1-PDGFB 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.
COL1A1-PDGFB 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.
COL1A1-PDGFB 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.
COL1A1-PDGFB 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
HgeneCOL1A1

GO:0010718

positive regulation of epithelial to mesenchymal transition

20018240

HgeneCOL1A1

GO:0030335

positive regulation of cell migration

20018240

HgeneCOL1A1

GO:0034504

protein localization to nucleus

20018240

HgeneCOL1A1

GO:0045893

positive regulation of transcription, DNA-templated

20018240

HgeneCOL1A1

GO:0090263

positive regulation of canonical Wnt signaling pathway

20018240

TgenePDGFB

GO:0001938

positive regulation of endothelial cell proliferation

9685360

TgenePDGFB

GO:0002548

monocyte chemotaxis

17991872

TgenePDGFB

GO:0006468

protein phosphorylation

17942966

TgenePDGFB

GO:0008284

positive regulation of cell proliferation

2439522|2836953|7073684

TgenePDGFB

GO:0009611

response to wounding

2538439

TgenePDGFB

GO:0010512

negative regulation of phosphatidylinositol biosynthetic process

2538439

TgenePDGFB

GO:0010544

negative regulation of platelet activation

2538439

TgenePDGFB

GO:0010628

positive regulation of gene expression

23554459|24008408

TgenePDGFB

GO:0010629

negative regulation of gene expression

23554459|25089138

TgenePDGFB

GO:0014068

positive regulation of phosphatidylinositol 3-kinase signaling

10734101|11788434|17942966

TgenePDGFB

GO:0014911

positive regulation of smooth muscle cell migration

9409235

TgenePDGFB

GO:0018105

peptidyl-serine phosphorylation

16530387

TgenePDGFB

GO:0018108

peptidyl-tyrosine phosphorylation

10734101|16530387

TgenePDGFB

GO:0030335

positive regulation of cell migration

11788434|21245381

TgenePDGFB

GO:0031954

positive regulation of protein autophosphorylation

12070119|16530387

TgenePDGFB

GO:0032091

negative regulation of protein binding

22619279

TgenePDGFB

GO:0032147

activation of protein kinase activity

16530387

TgenePDGFB

GO:0032148

activation of protein kinase B activity

16530387

TgenePDGFB

GO:0035655

interleukin-18-mediated signaling pathway

21321938

TgenePDGFB

GO:0035793

positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway

19019919

TgenePDGFB

GO:0043406

positive regulation of MAP kinase activity

9685360|11788434|16530387|17942966

TgenePDGFB

GO:0043536

positive regulation of blood vessel endothelial cell migration

9685360

TgenePDGFB

GO:0043552

positive regulation of phosphatidylinositol 3-kinase activity

16530387

TgenePDGFB

GO:0045737

positive regulation of cyclin-dependent protein serine/threonine kinase activity

16530387

TgenePDGFB

GO:0045840

positive regulation of mitotic nuclear division

10644978|10734101|17942966

TgenePDGFB

GO:0045892

negative regulation of transcription, DNA-templated

16530387|25089138

TgenePDGFB

GO:0045893

positive regulation of transcription, DNA-templated

16530387|17324121

TgenePDGFB

GO:0048008

platelet-derived growth factor receptor signaling pathway

2439522|2536956|2836953|19088079|21245381|23554459

TgenePDGFB

GO:0048146

positive regulation of fibroblast proliferation

2439522|10644978|17324121

TgenePDGFB

GO:0048661

positive regulation of smooth muscle cell proliferation

21321938

TgenePDGFB

GO:0050731

positive regulation of peptidyl-tyrosine phosphorylation

21245381

TgenePDGFB

GO:0050921

positive regulation of chemotaxis

9409235|19019919

TgenePDGFB

GO:0060326

cell chemotaxis

16014047|17991872|21245381

TgenePDGFB

GO:0061098

positive regulation of protein tyrosine kinase activity

16530387

TgenePDGFB

GO:0070374

positive regulation of ERK1 and ERK2 cascade

11788434|16530387|17942966

TgenePDGFB

GO:0071363

cellular response to growth factor stimulus

21245381

TgenePDGFB

GO:0072126

positive regulation of glomerular mesangial cell proliferation

11788434|16014047

TgenePDGFB

GO:0090280

positive regulation of calcium ion import

19019919

TgenePDGFB

GO:1900127

positive regulation of hyaluronan biosynthetic process

17324121

TgenePDGFB

GO:1902894

negative regulation of pri-miRNA transcription by RNA polymerase II

26493107

TgenePDGFB

GO:1902895

positive regulation of pri-miRNA transcription by RNA polymerase II

19088079

TgenePDGFB

GO:1904707

positive regulation of vascular smooth muscle cell proliferation

12070119|19088079|23554459

TgenePDGFB

GO:1904754

positive regulation of vascular associated smooth muscle cell migration

12070119|19088079|23554459

TgenePDGFB

GO:1905064

negative regulation of vascular smooth muscle cell differentiation

19088079

TgenePDGFB

GO:1905176

positive regulation of vascular smooth muscle cell dedifferentiation

19088079

TgenePDGFB

GO:2000379

positive regulation of reactive oxygen species metabolic process

19019919

TgenePDGFB

GO:2000573

positive regulation of DNA biosynthetic process

10644978|10734101|11788434|12070119|16530387|17942966|19019919

TgenePDGFB

GO:2000591

positive regulation of metanephric mesenchymal cell migration

10734101


check buttonFusion gene breakpoints across COL1A1 (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 PDGFB (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


Top

Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4dermatofibrosarcomaX98708COL1A1chr17

48270408

PDGFBchr22

39631819

ChimerKB3..COL1A1chr17

48265322

-PDGFBchr22

39631818

-
ChimerKB3..COL1A1chr17

48267067

-PDGFBchr22

39631818

-
ChimerKB3..COL1A1chr17

48267219

-PDGFBchr22

39631879

-
ChimerKB3..COL1A1chr17

48267939

-PDGFBchr22

39631818

-
ChimerKB3..COL1A1chr17

48268762

-PDGFBchr22

39631818

-
ChimerKB3..COL1A1chr17

48269835

-PDGFBchr22

39631879

-
ChimerKB3..COL1A1chr17

48270383

-PDGFBchr22

39631818

-
ChimerKB3..COL1A1chr17

48270408

-PDGFBchr22

39631818

-
ChimerKB3..COL1A1chr17

48271303

-PDGFBchr22

39631879

-
ChimerKB3..COL1A1chr17

48271969

-PDGFBchr22

39631818

-
ChimerKB3..COL1A1chr17

48275856

-PDGFBchr22

39631818

-
ChimerKB3..COL1A1chr17

48277126

-PDGFBchr22

39631818

-
ChiTaRS5.0N/AX98707COL1A1chr17

48269835

-PDGFBchr22

39631882

-
ChiTaRS5.0N/AX98708COL1A1chr17

48269835

-PDGFBchr22

39631882

-
ChiTaRS5.0N/AX98709COL1A1chr17

48275309

-PDGFBchr22

39631879

-
ChiTaRS5.0N/AX98710COL1A1chr17

48274370

-PDGFBchr22

39631879

-
ChiTaRS5.0N/AY08643COL1A1chr17

48264844

-PDGFBchr22

39631879

-
ChiTaRS5.0N/AY15913COL1A1chr17

48267361

-PDGFBchr22

39631879

-
ChiTaRS5.0N/AY15914COL1A1chr17

48264844

-PDGFBchr22

39631879

-
ChiTaRS5.0N/AY15915COL1A1chr17

48265236

-PDGFBchr22

39631879

-
ChiTaRS5.0N/AY15916COL1A1chr17

48268177

-PDGFBchr22

39631881

-
ChiTaRS5.0N/AY15917COL1A1chr17

48271303

-PDGFBchr22

39631879

-
ChiTaRS5.0N/AY15918COL1A1chr17

48268743

-PDGFBchr22

39631879

-
ChiTaRS5.0N/AY15919COL1A1chr17

48267039

-PDGFBchr22

39631879

-
ChiTaRS5.0N/AY15920COL1A1chr17

48264844

-PDGFBchr22

39631879

-
ChiTaRS5.0N/AY15921COL1A1chr17

48275521

-PDGFBchr22

39631879

-
ChiTaRS5.0N/AY16341COL1A1chr17

48267292

-PDGFBchr22

39634607

-
ChiTaRS5.0N/AY16342COL1A1chr17

48264629

-PDGFBchr22

39637293

-
ChiTaRS5.0N/AY16343COL1A1chr17

48264968

-PDGFBchr22

39634676

-
ChiTaRS5.0N/AY16344COL1A1chr17

48268160

-PDGFBchr22

39633272

-
ChiTaRS5.0N/AY16345COL1A1chr17

48271270

-PDGFBchr22

39633820

-
ChiTaRS5.0N/AY16346COL1A1chr17

48266737

-PDGFBchr22

39631879

-


Top

Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000225964COL1A1chr1748267219-ENST00000331163PDGFBchr2239631879-5378273211933941091
ENST00000225964COL1A1chr1748267219-ENST00000381551PDGFBchr2239631879-3802273211933941091
ENST00000225964COL1A1chr1748269835-ENST00000331163PDGFBchr2239631879-474821021192764881
ENST00000225964COL1A1chr1748269835-ENST00000381551PDGFBchr2239631879-317221021192764881
ENST00000225964COL1A1chr1748271303-ENST00000331163PDGFBchr2239631879-453218861192548809
ENST00000225964COL1A1chr1748271303-ENST00000381551PDGFBchr2239631879-295618861192548809
ENST00000225964COL1A1chr1748269835-ENST00000331163PDGFBchr2239631882-474821021192764881
ENST00000225964COL1A1chr1748269835-ENST00000381551PDGFBchr2239631882-317221021192764881
ENST00000225964COL1A1chr1748275309-ENST00000331163PDGFBchr2239631879-34077611191423434
ENST00000225964COL1A1chr1748275309-ENST00000381551PDGFBchr2239631879-18317611191423434
ENST00000225964COL1A1chr1748274370-ENST00000331163PDGFBchr2239631879-35699231191585488
ENST00000225964COL1A1chr1748274370-ENST00000381551PDGFBchr2239631879-19939231191585488
ENST00000225964COL1A1chr1748264844-ENST00000331163PDGFBchr2239631879-6188354211942041361
ENST00000225964COL1A1chr1748264844-ENST00000381551PDGFBchr2239631879-4612354211942041361
ENST00000225964COL1A1chr1748267361-ENST00000331163PDGFBchr2239631879-5324267811933401073
ENST00000225964COL1A1chr1748267361-ENST00000381551PDGFBchr2239631879-3748267811933401073
ENST00000225964COL1A1chr1748265236-ENST00000331163PDGFBchr2239631879-6134348811941501343
ENST00000225964COL1A1chr1748265236-ENST00000381551PDGFBchr2239631879-4558348811941501343
ENST00000225964COL1A1chr1748268177-ENST00000331163PDGFBchr2239631881-5108246211931241001
ENST00000225964COL1A1chr1748268177-ENST00000381551PDGFBchr2239631881-3532246211931241001
ENST00000225964COL1A1chr1748271303-ENST00000331163PDGFBchr2239631879-453218861192548809
ENST00000225964COL1A1chr1748271303-ENST00000381551PDGFBchr2239631879-295618861192548809
ENST00000225964COL1A1chr1748268743-ENST00000331163PDGFBchr2239631879-500023541193016965
ENST00000225964COL1A1chr1748268743-ENST00000381551PDGFBchr2239631879-342423541193016965
ENST00000225964COL1A1chr1748267039-ENST00000331163PDGFBchr2239631879-5432278611934481109
ENST00000225964COL1A1chr1748267039-ENST00000381551PDGFBchr2239631879-3856278611934481109
ENST00000225964COL1A1chr1748275521-ENST00000331163PDGFBchr2239631879-33537071191369416
ENST00000225964COL1A1chr1748275521-ENST00000381551PDGFBchr2239631879-17777071191369416
ENST00000225964COL1A1chr1748266737-ENST00000331163PDGFBchr2239631879-5594294811936101163
ENST00000225964COL1A1chr1748266737-ENST00000381551PDGFBchr2239631879-4018294811936101163

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
ENST00000225964ENST00000331163COL1A1chr1748269835-PDGFBchr2239631882-0.0021412190.9978588
ENST00000225964ENST00000381551COL1A1chr1748269835-PDGFBchr2239631882-0.0033518370.99664813
ENST00000225964ENST00000331163COL1A1chr1748275309-PDGFBchr2239631879-0.0099598970.9900401
ENST00000225964ENST00000381551COL1A1chr1748275309-PDGFBchr2239631879-0.0252500750.9747499
ENST00000225964ENST00000331163COL1A1chr1748274370-PDGFBchr2239631879-0.010677360.9893226
ENST00000225964ENST00000381551COL1A1chr1748274370-PDGFBchr2239631879-0.022349340.97765064
ENST00000225964ENST00000331163COL1A1chr1748264844-PDGFBchr2239631879-0.0040738010.99592626
ENST00000225964ENST00000381551COL1A1chr1748264844-PDGFBchr2239631879-0.006386370.99361366
ENST00000225964ENST00000331163COL1A1chr1748267361-PDGFBchr2239631879-0.002657050.997343
ENST00000225964ENST00000381551COL1A1chr1748267361-PDGFBchr2239631879-0.0041785060.9958215
ENST00000225964ENST00000331163COL1A1chr1748265236-PDGFBchr2239631879-0.0048988670.99510115
ENST00000225964ENST00000381551COL1A1chr1748265236-PDGFBchr2239631879-0.007870970.9921291
ENST00000225964ENST00000331163COL1A1chr1748268177-PDGFBchr2239631881-0.0010567720.99894327
ENST00000225964ENST00000381551COL1A1chr1748268177-PDGFBchr2239631881-0.0015543610.9984457
ENST00000225964ENST00000331163COL1A1chr1748271303-PDGFBchr2239631879-0.0033873320.9966126
ENST00000225964ENST00000381551COL1A1chr1748271303-PDGFBchr2239631879-0.0054383110.99456173
ENST00000225964ENST00000331163COL1A1chr1748268743-PDGFBchr2239631879-0.0011350060.998865
ENST00000225964ENST00000381551COL1A1chr1748268743-PDGFBchr2239631879-0.0016933910.99830663
ENST00000225964ENST00000331163COL1A1chr1748267039-PDGFBchr2239631879-0.0023893020.9976107
ENST00000225964ENST00000381551COL1A1chr1748267039-PDGFBchr2239631879-0.0036708940.9963291
ENST00000225964ENST00000331163COL1A1chr1748275521-PDGFBchr2239631879-0.0076555290.99234444
ENST00000225964ENST00000381551COL1A1chr1748275521-PDGFBchr2239631879-0.0208527990.97914726
ENST00000225964ENST00000331163COL1A1chr1748266737-PDGFBchr2239631879-0.0045390650.9954609
ENST00000225964ENST00000381551COL1A1chr1748266737-PDGFBchr2239631879-0.0075304050.9924696

Top

Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>18143_18143_1_COL1A1-PDGFB_COL1A1_chr17_48264844_ENST00000225964_PDGFB_chr22_39631879_ENST00000331163_length(amino acids)=1361AA_BP=369
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE
CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGF
SGLDGAKGDAGPAGPKGEPGSPGENGAPGQMGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGP
RGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGE
PGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGL
TGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGVPGPPGAVGPAGKDGEAGAQGPPGPAGPAGE
RGEQGPAGSPGFQGLPGPAGPPGEAGKPGEQGVPGDLGAPGPSGARGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGDAGAPGAPGS
QGAPGLQGMPGERGAAGLPGPKGDRGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGESGPSGPAGPTGARGAPGDRGEPGPPGP
AGFAGPPGADGQPGAKGEPGDAGAKGDAGPPGPAGPAGPPGPIGNVGAPGAKGARGSAGPPGATGFPGAAGRVGPPGPSGNAGPPGPPGP
AGKEGGKGPRGETGPAGRPGEVGPPGPPGPAGEKGSPGADGPAGAPGTPGPQGIAGQRGVVGLPGQRGERGFPGLPGPSGEPGKQGPSGA
SGERGPPGPMGPPGLAGPPGESGREGAPGAEGSPGRDGSPGAKGDRGETGPAGPPGAPGAPGAPGPVGPAGKSGDRGETGPAGPTGPVGP
VGARGPAGPQGPRGDKGETGEQGDRGIKGHRGFSGLQGPPGPPGSPGEQGPSGASGPAGPRGDPIPEELYEMLSDHSIRSFDDLQRLLHG
DPGEEDGAELDLNMTRSHSGGELESLARGRRSLGSLTIAEPAMIAECKTRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNVQ
CRPTQVQLRPVQVRKIEIVRKKPIFKKATVTLEDHLACKCETVAAARPVTRSPGGSQEQRAKTPQTRVTIRTVRVRRPPKGKHRKFKHTH

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

>18143_18143_2_COL1A1-PDGFB_COL1A1_chr17_48264844_ENST00000225964_PDGFB_chr22_39631879_ENST00000381551_length(amino acids)=1361AA_BP=369
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE
CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGF
SGLDGAKGDAGPAGPKGEPGSPGENGAPGQMGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGP
RGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGE
PGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGL
TGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGVPGPPGAVGPAGKDGEAGAQGPPGPAGPAGE
RGEQGPAGSPGFQGLPGPAGPPGEAGKPGEQGVPGDLGAPGPSGARGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGDAGAPGAPGS
QGAPGLQGMPGERGAAGLPGPKGDRGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGESGPSGPAGPTGARGAPGDRGEPGPPGP
AGFAGPPGADGQPGAKGEPGDAGAKGDAGPPGPAGPAGPPGPIGNVGAPGAKGARGSAGPPGATGFPGAAGRVGPPGPSGNAGPPGPPGP
AGKEGGKGPRGETGPAGRPGEVGPPGPPGPAGEKGSPGADGPAGAPGTPGPQGIAGQRGVVGLPGQRGERGFPGLPGPSGEPGKQGPSGA
SGERGPPGPMGPPGLAGPPGESGREGAPGAEGSPGRDGSPGAKGDRGETGPAGPPGAPGAPGAPGPVGPAGKSGDRGETGPAGPTGPVGP
VGARGPAGPQGPRGDKGETGEQGDRGIKGHRGFSGLQGPPGPPGSPGEQGPSGASGPAGPRGDPIPEELYEMLSDHSIRSFDDLQRLLHG
DPGEEDGAELDLNMTRSHSGGELESLARGRRSLGSLTIAEPAMIAECKTRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNVQ
CRPTQVQLRPVQVRKIEIVRKKPIFKKATVTLEDHLACKCETVAAARPVTRSPGGSQEQRAKTPQTRVTIRTVRVRRPPKGKHRKFKHTH

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

>18143_18143_3_COL1A1-PDGFB_COL1A1_chr17_48265236_ENST00000225964_PDGFB_chr22_39631879_ENST00000331163_length(amino acids)=1343AA_BP=369
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE
CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGF
SGLDGAKGDAGPAGPKGEPGSPGENGAPGQMGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGP
RGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGE
PGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGL
TGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGVPGPPGAVGPAGKDGEAGAQGPPGPAGPAGE
RGEQGPAGSPGFQGLPGPAGPPGEAGKPGEQGVPGDLGAPGPSGARGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGDAGAPGAPGS
QGAPGLQGMPGERGAAGLPGPKGDRGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGESGPSGPAGPTGARGAPGDRGEPGPPGP
AGFAGPPGADGQPGAKGEPGDAGAKGDAGPPGPAGPAGPPGPIGNVGAPGAKGARGSAGPPGATGFPGAAGRVGPPGPSGNAGPPGPPGP
AGKEGGKGPRGETGPAGRPGEVGPPGPPGPAGEKGSPGADGPAGAPGTPGPQGIAGQRGVVGLPGQRGERGFPGLPGPSGEPGKQGPSGA
SGERGPPGPMGPPGLAGPPGESGREGAPGAEGSPGRDGSPGAKGDRGETGPAGPPGAPGAPGAPGPVGPAGKSGDRGETGPAGPTGPVGP
VGARGPAGPQGPRGDKGETGEQGDRGIKGHRGFSGLQGPPGPPGDPIPEELYEMLSDHSIRSFDDLQRLLHGDPGEEDGAELDLNMTRSH
SGGELESLARGRRSLGSLTIAEPAMIAECKTRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNVQCRPTQVQLRPVQVRKIEI

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

>18143_18143_4_COL1A1-PDGFB_COL1A1_chr17_48265236_ENST00000225964_PDGFB_chr22_39631879_ENST00000381551_length(amino acids)=1343AA_BP=369
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE
CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGF
SGLDGAKGDAGPAGPKGEPGSPGENGAPGQMGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGP
RGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGE
PGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGL
TGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGVPGPPGAVGPAGKDGEAGAQGPPGPAGPAGE
RGEQGPAGSPGFQGLPGPAGPPGEAGKPGEQGVPGDLGAPGPSGARGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGDAGAPGAPGS
QGAPGLQGMPGERGAAGLPGPKGDRGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGESGPSGPAGPTGARGAPGDRGEPGPPGP
AGFAGPPGADGQPGAKGEPGDAGAKGDAGPPGPAGPAGPPGPIGNVGAPGAKGARGSAGPPGATGFPGAAGRVGPPGPSGNAGPPGPPGP
AGKEGGKGPRGETGPAGRPGEVGPPGPPGPAGEKGSPGADGPAGAPGTPGPQGIAGQRGVVGLPGQRGERGFPGLPGPSGEPGKQGPSGA
SGERGPPGPMGPPGLAGPPGESGREGAPGAEGSPGRDGSPGAKGDRGETGPAGPPGAPGAPGAPGPVGPAGKSGDRGETGPAGPTGPVGP
VGARGPAGPQGPRGDKGETGEQGDRGIKGHRGFSGLQGPPGPPGDPIPEELYEMLSDHSIRSFDDLQRLLHGDPGEEDGAELDLNMTRSH
SGGELESLARGRRSLGSLTIAEPAMIAECKTRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNVQCRPTQVQLRPVQVRKIEI

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

>18143_18143_5_COL1A1-PDGFB_COL1A1_chr17_48266737_ENST00000225964_PDGFB_chr22_39631879_ENST00000331163_length(amino acids)=1163AA_BP=275
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE
CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGF
SGLDGAKGDAGPAGPKGEPGSPGENGAPGQMGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGP
RGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGE
PGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGL
TGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGVPGPPGAVGPAGKDGEAGAQGPPGPAGPAGE
RGEQGPAGSPGFQGLPGPAGPPGEAGKPGEQGVPGDLGAPGPSGARGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGDAGAPGAPGS
QGAPGLQGMPGERGAAGLPGPKGDRGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGESGPSGPAGPTGARGAPGDRGEPGPPGP
AGFAGPPGADGQPGAKGEPGDAGAKGDAGPPGPAGPAGPPGPIGNVGAPGAKGARGSAGPPGATGFPGAAGRVGPPGPSGNAGPPGPPGP
AGKEGGKGPRGETGPAGRPGEVGPPGPPGPAGEKGSPGADGPAGDPIPEELYEMLSDHSIRSFDDLQRLLHGDPGEEDGAELDLNMTRSH
SGGELESLARGRRSLGSLTIAEPAMIAECKTRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNVQCRPTQVQLRPVQVRKIEI

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

>18143_18143_6_COL1A1-PDGFB_COL1A1_chr17_48266737_ENST00000225964_PDGFB_chr22_39631879_ENST00000381551_length(amino acids)=1163AA_BP=275
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE
CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGF
SGLDGAKGDAGPAGPKGEPGSPGENGAPGQMGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGP
RGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGE
PGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGL
TGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGVPGPPGAVGPAGKDGEAGAQGPPGPAGPAGE
RGEQGPAGSPGFQGLPGPAGPPGEAGKPGEQGVPGDLGAPGPSGARGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGDAGAPGAPGS
QGAPGLQGMPGERGAAGLPGPKGDRGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGESGPSGPAGPTGARGAPGDRGEPGPPGP
AGFAGPPGADGQPGAKGEPGDAGAKGDAGPPGPAGPAGPPGPIGNVGAPGAKGARGSAGPPGATGFPGAAGRVGPPGPSGNAGPPGPPGP
AGKEGGKGPRGETGPAGRPGEVGPPGPPGPAGEKGSPGADGPAGDPIPEELYEMLSDHSIRSFDDLQRLLHGDPGEEDGAELDLNMTRSH
SGGELESLARGRRSLGSLTIAEPAMIAECKTRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNVQCRPTQVQLRPVQVRKIEI

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

>18143_18143_7_COL1A1-PDGFB_COL1A1_chr17_48267039_ENST00000225964_PDGFB_chr22_39631879_ENST00000331163_length(amino acids)=1109AA_BP=275
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE
CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGF
SGLDGAKGDAGPAGPKGEPGSPGENGAPGQMGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGP
RGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGE
PGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGL
TGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGVPGPPGAVGPAGKDGEAGAQGPPGPAGPAGE
RGEQGPAGSPGFQGLPGPAGPPGEAGKPGEQGVPGDLGAPGPSGARGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGDAGAPGAPGS
QGAPGLQGMPGERGAAGLPGPKGDRGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGESGPSGPAGPTGARGAPGDRGEPGPPGP
AGFAGPPGADGQPGAKGEPGDAGAKGDAGPPGPAGPAGPPGPIGNVGAPGAKGARGSAGPPGATGFPGAAGRVGPPGPSGDPIPEELYEM
LSDHSIRSFDDLQRLLHGDPGEEDGAELDLNMTRSHSGGELESLARGRRSLGSLTIAEPAMIAECKTRTEVFEISRRLIDRTNANFLVWP
PCVEVQRCSGCCNNRNVQCRPTQVQLRPVQVRKIEIVRKKPIFKKATVTLEDHLACKCETVAAARPVTRSPGGSQEQRAKTPQTRVTIRT

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

>18143_18143_8_COL1A1-PDGFB_COL1A1_chr17_48267039_ENST00000225964_PDGFB_chr22_39631879_ENST00000381551_length(amino acids)=1109AA_BP=275
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE
CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGF
SGLDGAKGDAGPAGPKGEPGSPGENGAPGQMGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGP
RGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGE
PGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGL
TGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGVPGPPGAVGPAGKDGEAGAQGPPGPAGPAGE
RGEQGPAGSPGFQGLPGPAGPPGEAGKPGEQGVPGDLGAPGPSGARGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGDAGAPGAPGS
QGAPGLQGMPGERGAAGLPGPKGDRGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGESGPSGPAGPTGARGAPGDRGEPGPPGP
AGFAGPPGADGQPGAKGEPGDAGAKGDAGPPGPAGPAGPPGPIGNVGAPGAKGARGSAGPPGATGFPGAAGRVGPPGPSGDPIPEELYEM
LSDHSIRSFDDLQRLLHGDPGEEDGAELDLNMTRSHSGGELESLARGRRSLGSLTIAEPAMIAECKTRTEVFEISRRLIDRTNANFLVWP
PCVEVQRCSGCCNNRNVQCRPTQVQLRPVQVRKIEIVRKKPIFKKATVTLEDHLACKCETVAAARPVTRSPGGSQEQRAKTPQTRVTIRT

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

>18143_18143_9_COL1A1-PDGFB_COL1A1_chr17_48267219_ENST00000225964_PDGFB_chr22_39631879_ENST00000331163_length(amino acids)=1091AA_BP=275
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE
CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGF
SGLDGAKGDAGPAGPKGEPGSPGENGAPGQMGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGP
RGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGE
PGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGL
TGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGVPGPPGAVGPAGKDGEAGAQGPPGPAGPAGE
RGEQGPAGSPGFQGLPGPAGPPGEAGKPGEQGVPGDLGAPGPSGARGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGDAGAPGAPGS
QGAPGLQGMPGERGAAGLPGPKGDRGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGESGPSGPAGPTGARGAPGDRGEPGPPGP
AGFAGPPGADGQPGAKGEPGDAGAKGDAGPPGPAGPAGPPGPIGNVGAPGAKGARGSAGPPGDPIPEELYEMLSDHSIRSFDDLQRLLHG
DPGEEDGAELDLNMTRSHSGGELESLARGRRSLGSLTIAEPAMIAECKTRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNVQ
CRPTQVQLRPVQVRKIEIVRKKPIFKKATVTLEDHLACKCETVAAARPVTRSPGGSQEQRAKTPQTRVTIRTVRVRRPPKGKHRKFKHTH

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

>18143_18143_10_COL1A1-PDGFB_COL1A1_chr17_48267219_ENST00000225964_PDGFB_chr22_39631879_ENST00000381551_length(amino acids)=1091AA_BP=275
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE
CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGF
SGLDGAKGDAGPAGPKGEPGSPGENGAPGQMGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGP
RGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGE
PGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGL
TGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGVPGPPGAVGPAGKDGEAGAQGPPGPAGPAGE
RGEQGPAGSPGFQGLPGPAGPPGEAGKPGEQGVPGDLGAPGPSGARGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGDAGAPGAPGS
QGAPGLQGMPGERGAAGLPGPKGDRGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGESGPSGPAGPTGARGAPGDRGEPGPPGP
AGFAGPPGADGQPGAKGEPGDAGAKGDAGPPGPAGPAGPPGPIGNVGAPGAKGARGSAGPPGDPIPEELYEMLSDHSIRSFDDLQRLLHG
DPGEEDGAELDLNMTRSHSGGELESLARGRRSLGSLTIAEPAMIAECKTRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNVQ
CRPTQVQLRPVQVRKIEIVRKKPIFKKATVTLEDHLACKCETVAAARPVTRSPGGSQEQRAKTPQTRVTIRTVRVRRPPKGKHRKFKHTH

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

>18143_18143_11_COL1A1-PDGFB_COL1A1_chr17_48267361_ENST00000225964_PDGFB_chr22_39631879_ENST00000331163_length(amino acids)=1073AA_BP=275
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE
CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGF
SGLDGAKGDAGPAGPKGEPGSPGENGAPGQMGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGP
RGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGE
PGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGL
TGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGVPGPPGAVGPAGKDGEAGAQGPPGPAGPAGE
RGEQGPAGSPGFQGLPGPAGPPGEAGKPGEQGVPGDLGAPGPSGARGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGDAGAPGAPGS
QGAPGLQGMPGERGAAGLPGPKGDRGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGESGPSGPAGPTGARGAPGDRGEPGPPGP
AGFAGPPGADGQPGAKGEPGDAGAKGDAGPPGPAGPAGPPGPIGDPIPEELYEMLSDHSIRSFDDLQRLLHGDPGEEDGAELDLNMTRSH
SGGELESLARGRRSLGSLTIAEPAMIAECKTRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNVQCRPTQVQLRPVQVRKIEI

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

>18143_18143_12_COL1A1-PDGFB_COL1A1_chr17_48267361_ENST00000225964_PDGFB_chr22_39631879_ENST00000381551_length(amino acids)=1073AA_BP=275
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE
CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGF
SGLDGAKGDAGPAGPKGEPGSPGENGAPGQMGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGP
RGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGE
PGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGL
TGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGVPGPPGAVGPAGKDGEAGAQGPPGPAGPAGE
RGEQGPAGSPGFQGLPGPAGPPGEAGKPGEQGVPGDLGAPGPSGARGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGDAGAPGAPGS
QGAPGLQGMPGERGAAGLPGPKGDRGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGESGPSGPAGPTGARGAPGDRGEPGPPGP
AGFAGPPGADGQPGAKGEPGDAGAKGDAGPPGPAGPAGPPGPIGDPIPEELYEMLSDHSIRSFDDLQRLLHGDPGEEDGAELDLNMTRSH
SGGELESLARGRRSLGSLTIAEPAMIAECKTRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNVQCRPTQVQLRPVQVRKIEI

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

>18143_18143_13_COL1A1-PDGFB_COL1A1_chr17_48268177_ENST00000225964_PDGFB_chr22_39631881_ENST00000331163_length(amino acids)=1001AA_BP=275
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE
CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGF
SGLDGAKGDAGPAGPKGEPGSPGENGAPGQMGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGP
RGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGE
PGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGL
TGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGVPGPPGAVGPAGKDGEAGAQGPPGPAGPAGE
RGEQGPAGSPGFQGLPGPAGPPGEAGKPGEQGVPGDLGAPGPSGARGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGDAGAPGAPGS
QGAPGLQGMPGERGAAGLPGPKGDRGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGDPIPEELYEMLSDHSIRSFDDLQRLLHG
DPGEEDGAELDLNMTRSHSGGELESLARGRRSLGSLTIAEPAMIAECKTRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNVQ
CRPTQVQLRPVQVRKIEIVRKKPIFKKATVTLEDHLACKCETVAAARPVTRSPGGSQEQRAKTPQTRVTIRTVRVRRPPKGKHRKFKHTH

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

>18143_18143_14_COL1A1-PDGFB_COL1A1_chr17_48268177_ENST00000225964_PDGFB_chr22_39631881_ENST00000381551_length(amino acids)=1001AA_BP=275
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE
CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGF
SGLDGAKGDAGPAGPKGEPGSPGENGAPGQMGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGP
RGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGE
PGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGL
TGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGVPGPPGAVGPAGKDGEAGAQGPPGPAGPAGE
RGEQGPAGSPGFQGLPGPAGPPGEAGKPGEQGVPGDLGAPGPSGARGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGDAGAPGAPGS
QGAPGLQGMPGERGAAGLPGPKGDRGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGDPIPEELYEMLSDHSIRSFDDLQRLLHG
DPGEEDGAELDLNMTRSHSGGELESLARGRRSLGSLTIAEPAMIAECKTRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNVQ
CRPTQVQLRPVQVRKIEIVRKKPIFKKATVTLEDHLACKCETVAAARPVTRSPGGSQEQRAKTPQTRVTIRTVRVRRPPKGKHRKFKHTH

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

>18143_18143_15_COL1A1-PDGFB_COL1A1_chr17_48268743_ENST00000225964_PDGFB_chr22_39631879_ENST00000331163_length(amino acids)=965AA_BP=275
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE
CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGF
SGLDGAKGDAGPAGPKGEPGSPGENGAPGQMGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGP
RGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGE
PGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGL
TGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGVPGPPGAVGPAGKDGEAGAQGPPGPAGPAGE
RGEQGPAGSPGFQGLPGPAGPPGEAGKPGEQGVPGDLGAPGPSGARGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGDAGAPGAPGS
QGAPGLQGMPGERGAAGLPGPKGDRGDPIPEELYEMLSDHSIRSFDDLQRLLHGDPGEEDGAELDLNMTRSHSGGELESLARGRRSLGSL
TIAEPAMIAECKTRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNVQCRPTQVQLRPVQVRKIEIVRKKPIFKKATVTLEDHL

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

>18143_18143_16_COL1A1-PDGFB_COL1A1_chr17_48268743_ENST00000225964_PDGFB_chr22_39631879_ENST00000381551_length(amino acids)=965AA_BP=275
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE
CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGF
SGLDGAKGDAGPAGPKGEPGSPGENGAPGQMGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGP
RGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGE
PGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGL
TGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGVPGPPGAVGPAGKDGEAGAQGPPGPAGPAGE
RGEQGPAGSPGFQGLPGPAGPPGEAGKPGEQGVPGDLGAPGPSGARGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGDAGAPGAPGS
QGAPGLQGMPGERGAAGLPGPKGDRGDPIPEELYEMLSDHSIRSFDDLQRLLHGDPGEEDGAELDLNMTRSHSGGELESLARGRRSLGSL
TIAEPAMIAECKTRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNVQCRPTQVQLRPVQVRKIEIVRKKPIFKKATVTLEDHL

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

>18143_18143_17_COL1A1-PDGFB_COL1A1_chr17_48269835_ENST00000225964_PDGFB_chr22_39631879_ENST00000331163_length(amino acids)=881AA_BP=275
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE
CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGF
SGLDGAKGDAGPAGPKGEPGSPGENGAPGQMGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGP
RGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGE
PGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGL
TGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGVPGPPGAVGPAGKDGEAGAQGPPGPAGPAGE
RGEQGPAGSPGFQGLPGPAGPPGEAGKPGEQGDPIPEELYEMLSDHSIRSFDDLQRLLHGDPGEEDGAELDLNMTRSHSGGELESLARGR
RSLGSLTIAEPAMIAECKTRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNVQCRPTQVQLRPVQVRKIEIVRKKPIFKKATV

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

>18143_18143_18_COL1A1-PDGFB_COL1A1_chr17_48269835_ENST00000225964_PDGFB_chr22_39631879_ENST00000381551_length(amino acids)=881AA_BP=275
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE
CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGF
SGLDGAKGDAGPAGPKGEPGSPGENGAPGQMGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGP
RGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGE
PGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGL
TGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGVPGPPGAVGPAGKDGEAGAQGPPGPAGPAGE
RGEQGPAGSPGFQGLPGPAGPPGEAGKPGEQGDPIPEELYEMLSDHSIRSFDDLQRLLHGDPGEEDGAELDLNMTRSHSGGELESLARGR
RSLGSLTIAEPAMIAECKTRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNVQCRPTQVQLRPVQVRKIEIVRKKPIFKKATV

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

>18143_18143_19_COL1A1-PDGFB_COL1A1_chr17_48269835_ENST00000225964_PDGFB_chr22_39631882_ENST00000331163_length(amino acids)=881AA_BP=275
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE
CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGF
SGLDGAKGDAGPAGPKGEPGSPGENGAPGQMGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGP
RGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGE
PGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGL
TGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGVPGPPGAVGPAGKDGEAGAQGPPGPAGPAGE
RGEQGPAGSPGFQGLPGPAGPPGEAGKPGEQGDPIPEELYEMLSDHSIRSFDDLQRLLHGDPGEEDGAELDLNMTRSHSGGELESLARGR
RSLGSLTIAEPAMIAECKTRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNVQCRPTQVQLRPVQVRKIEIVRKKPIFKKATV

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

>18143_18143_20_COL1A1-PDGFB_COL1A1_chr17_48269835_ENST00000225964_PDGFB_chr22_39631882_ENST00000381551_length(amino acids)=881AA_BP=275
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE
CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGF
SGLDGAKGDAGPAGPKGEPGSPGENGAPGQMGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGP
RGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGE
PGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGL
TGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGVPGPPGAVGPAGKDGEAGAQGPPGPAGPAGE
RGEQGPAGSPGFQGLPGPAGPPGEAGKPGEQGDPIPEELYEMLSDHSIRSFDDLQRLLHGDPGEEDGAELDLNMTRSHSGGELESLARGR
RSLGSLTIAEPAMIAECKTRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNVQCRPTQVQLRPVQVRKIEIVRKKPIFKKATV

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

>18143_18143_21_COL1A1-PDGFB_COL1A1_chr17_48271303_ENST00000225964_PDGFB_chr22_39631879_ENST00000331163_length(amino acids)=809AA_BP=275
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE
CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGF
SGLDGAKGDAGPAGPKGEPGSPGENGAPGQMGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGP
RGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGE
PGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGL
TGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGDPIPEELYEMLSDHSIRSFDDLQRLLHGDPGEEDGAELDL
NMTRSHSGGELESLARGRRSLGSLTIAEPAMIAECKTRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNVQCRPTQVQLRPVQ

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

>18143_18143_22_COL1A1-PDGFB_COL1A1_chr17_48271303_ENST00000225964_PDGFB_chr22_39631879_ENST00000381551_length(amino acids)=809AA_BP=275
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE
CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGF
SGLDGAKGDAGPAGPKGEPGSPGENGAPGQMGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGP
RGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGE
PGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGL
TGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGDPIPEELYEMLSDHSIRSFDDLQRLLHGDPGEEDGAELDL
NMTRSHSGGELESLARGRRSLGSLTIAEPAMIAECKTRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNVQCRPTQVQLRPVQ

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

>18143_18143_23_COL1A1-PDGFB_COL1A1_chr17_48274370_ENST00000225964_PDGFB_chr22_39631879_ENST00000331163_length(amino acids)=488AA_BP=140
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE
CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGD
PIPEELYEMLSDHSIRSFDDLQRLLHGDPGEEDGAELDLNMTRSHSGGELESLARGRRSLGSLTIAEPAMIAECKTRTEVFEISRRLIDR
TNANFLVWPPCVEVQRCSGCCNNRNVQCRPTQVQLRPVQVRKIEIVRKKPIFKKATVTLEDHLACKCETVAAARPVTRSPGGSQEQRAKT

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

>18143_18143_24_COL1A1-PDGFB_COL1A1_chr17_48274370_ENST00000225964_PDGFB_chr22_39631879_ENST00000381551_length(amino acids)=488AA_BP=140
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE
CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGD
PIPEELYEMLSDHSIRSFDDLQRLLHGDPGEEDGAELDLNMTRSHSGGELESLARGRRSLGSLTIAEPAMIAECKTRTEVFEISRRLIDR
TNANFLVWPPCVEVQRCSGCCNNRNVQCRPTQVQLRPVQVRKIEIVRKKPIFKKATVTLEDHLACKCETVAAARPVTRSPGGSQEQRAKT

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

>18143_18143_25_COL1A1-PDGFB_COL1A1_chr17_48275309_ENST00000225964_PDGFB_chr22_39631879_ENST00000331163_length(amino acids)=434AA_BP=140
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE
CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGDPIPEELYEMLSDHSIRSFDDLQRLLHGDPGEEDGAELDLNMTRSHSGGELESLA
RGRRSLGSLTIAEPAMIAECKTRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNVQCRPTQVQLRPVQVRKIEIVRKKPIFKK

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

>18143_18143_26_COL1A1-PDGFB_COL1A1_chr17_48275309_ENST00000225964_PDGFB_chr22_39631879_ENST00000381551_length(amino acids)=434AA_BP=140
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE
CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGDPIPEELYEMLSDHSIRSFDDLQRLLHGDPGEEDGAELDLNMTRSHSGGELESLA
RGRRSLGSLTIAEPAMIAECKTRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNVQCRPTQVQLRPVQVRKIEIVRKKPIFKK

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

>18143_18143_27_COL1A1-PDGFB_COL1A1_chr17_48275521_ENST00000225964_PDGFB_chr22_39631879_ENST00000331163_length(amino acids)=416AA_BP=184
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE
CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGDPIPEELYEMLSDHSIRSFDDLQRLLHGDPGEEDGAELDLNMTRSHSGGELESLARGRRSLGSLTIAEPAMIA
ECKTRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNVQCRPTQVQLRPVQVRKIEIVRKKPIFKKATVTLEDHLACKCETVAA

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

>18143_18143_28_COL1A1-PDGFB_COL1A1_chr17_48275521_ENST00000225964_PDGFB_chr22_39631879_ENST00000381551_length(amino acids)=416AA_BP=184
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE
CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGDPIPEELYEMLSDHSIRSFDDLQRLLHGDPGEEDGAELDLNMTRSHSGGELESLARGRRSLGSLTIAEPAMIA
ECKTRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNVQCRPTQVQLRPVQVRKIEIVRKKPIFKKATVTLEDHLACKCETVAA

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

Top

Fusion Protein Functional Features


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/chr17:48264844/chr22:39631879)
- 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
COL1A1

P02452

PDGFB

P01127

FUNCTION: Type I collagen is a member of group I collagen (fibrillar forming collagen).FUNCTION: Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin (PubMed:26599395). Required for normal proliferation and recruitment of pericytes and vascular smooth muscle cells in the central nervous system, skin, lung, heart and placenta. Required for normal blood vessel development, and for normal development of kidney glomeruli. Plays an important role in wound healing. Signaling is modulated by the formation of heterodimers with PDGFA (By similarity). {ECO:0000250|UniProtKB:P31240, ECO:0000269|PubMed:26599395}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCOL1A1chr17:48264844chr22:39631879ENST00000225964-465138_961141.01465.0DomainVWFC
HgeneCOL1A1chr17:48265236chr22:39631879ENST00000225964-455138_961123.01465.0DomainVWFC
HgeneCOL1A1chr17:48266737chr22:39631879ENST00000225964-395138_96943.01465.0DomainVWFC
HgeneCOL1A1chr17:48267039chr22:39631879ENST00000225964-385138_96889.01465.0DomainVWFC
HgeneCOL1A1chr17:48267361chr22:39631879ENST00000225964-365138_96853.01465.0DomainVWFC
HgeneCOL1A1chr17:48268177chr22:39631881ENST00000225964-335138_96781.01465.0DomainVWFC
HgeneCOL1A1chr17:48268743chr22:39631879ENST00000225964-325138_96745.01465.0DomainVWFC
HgeneCOL1A1chr17:48269835chr22:39631882ENST00000225964-295138_96661.01465.0DomainVWFC
HgeneCOL1A1chr17:48271303chr22:39631879ENST00000225964-255138_96589.01465.0DomainVWFC
HgeneCOL1A1chr17:48274370chr22:39631879ENST00000225964-115138_96268.01465.0DomainVWFC
HgeneCOL1A1chr17:48275309chr22:39631879ENST00000225964-85138_96214.01465.0DomainVWFC
HgeneCOL1A1chr17:48275521chr22:39631879ENST00000225964-75138_96196.01465.0DomainVWFC
HgeneCOL1A1chr17:48264844chr22:39631879ENST00000225964-46511093_10951141.01465.0MotifCell attachment site
HgeneCOL1A1chr17:48264844chr22:39631879ENST00000225964-4651745_7471141.01465.0MotifCell attachment site
HgeneCOL1A1chr17:48265236chr22:39631879ENST00000225964-45511093_10951123.01465.0MotifCell attachment site
HgeneCOL1A1chr17:48265236chr22:39631879ENST00000225964-4551745_7471123.01465.0MotifCell attachment site
HgeneCOL1A1chr17:48266737chr22:39631879ENST00000225964-3951745_747943.01465.0MotifCell attachment site
HgeneCOL1A1chr17:48267039chr22:39631879ENST00000225964-3851745_747889.01465.0MotifCell attachment site
HgeneCOL1A1chr17:48267361chr22:39631879ENST00000225964-3651745_747853.01465.0MotifCell attachment site
HgeneCOL1A1chr17:48268177chr22:39631881ENST00000225964-3351745_747781.01465.0MotifCell attachment site
HgeneCOL1A1chr17:48268743chr22:39631879ENST00000225964-3251745_747745.01465.0MotifCell attachment site
HgeneCOL1A1chr17:48264844chr22:39631879ENST00000225964-4651162_1781141.01465.0RegionNote=Nonhelical region (N-terminal)
HgeneCOL1A1chr17:48265236chr22:39631879ENST00000225964-4551162_1781123.01465.0RegionNote=Nonhelical region (N-terminal)
HgeneCOL1A1chr17:48266737chr22:39631879ENST00000225964-3951162_178943.01465.0RegionNote=Nonhelical region (N-terminal)
HgeneCOL1A1chr17:48267039chr22:39631879ENST00000225964-3851162_178889.01465.0RegionNote=Nonhelical region (N-terminal)
HgeneCOL1A1chr17:48267361chr22:39631879ENST00000225964-3651162_178853.01465.0RegionNote=Nonhelical region (N-terminal)
HgeneCOL1A1chr17:48268177chr22:39631881ENST00000225964-3351162_178781.01465.0RegionNote=Nonhelical region (N-terminal)
HgeneCOL1A1chr17:48268743chr22:39631879ENST00000225964-3251162_178745.01465.0RegionNote=Nonhelical region (N-terminal)
HgeneCOL1A1chr17:48269835chr22:39631882ENST00000225964-2951162_178661.01465.0RegionNote=Nonhelical region (N-terminal)
HgeneCOL1A1chr17:48271303chr22:39631879ENST00000225964-2551162_178589.01465.0RegionNote=Nonhelical region (N-terminal)
HgeneCOL1A1chr17:48274370chr22:39631879ENST00000225964-1151162_178268.01465.0RegionNote=Nonhelical region (N-terminal)
HgeneCOL1A1chr17:48275309chr22:39631879ENST00000225964-851162_178214.01465.0RegionNote=Nonhelical region (N-terminal)
HgeneCOL1A1chr17:48275521chr22:39631879ENST00000225964-751162_178196.01465.0RegionNote=Nonhelical region (N-terminal)

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCOL1A1chr17:48264844chr22:39631879ENST00000225964-46511229_14641141.01465.0DomainFibrillar collagen NC1
HgeneCOL1A1chr17:48265236chr22:39631879ENST00000225964-45511229_14641123.01465.0DomainFibrillar collagen NC1
HgeneCOL1A1chr17:48266737chr22:39631879ENST00000225964-39511229_1464943.01465.0DomainFibrillar collagen NC1
HgeneCOL1A1chr17:48267039chr22:39631879ENST00000225964-38511229_1464889.01465.0DomainFibrillar collagen NC1
HgeneCOL1A1chr17:48267361chr22:39631879ENST00000225964-36511229_1464853.01465.0DomainFibrillar collagen NC1
HgeneCOL1A1chr17:48268177chr22:39631881ENST00000225964-33511229_1464781.01465.0DomainFibrillar collagen NC1
HgeneCOL1A1chr17:48268743chr22:39631879ENST00000225964-32511229_1464745.01465.0DomainFibrillar collagen NC1
HgeneCOL1A1chr17:48269835chr22:39631882ENST00000225964-29511229_1464661.01465.0DomainFibrillar collagen NC1
HgeneCOL1A1chr17:48271303chr22:39631879ENST00000225964-25511229_1464589.01465.0DomainFibrillar collagen NC1
HgeneCOL1A1chr17:48274370chr22:39631879ENST00000225964-11511229_1464268.01465.0DomainFibrillar collagen NC1
HgeneCOL1A1chr17:48275309chr22:39631879ENST00000225964-8511229_1464214.01465.0DomainFibrillar collagen NC1
HgeneCOL1A1chr17:48275521chr22:39631879ENST00000225964-7511229_1464196.01465.0DomainFibrillar collagen NC1
HgeneCOL1A1chr17:48266737chr22:39631879ENST00000225964-39511093_1095943.01465.0MotifCell attachment site
HgeneCOL1A1chr17:48267039chr22:39631879ENST00000225964-38511093_1095889.01465.0MotifCell attachment site
HgeneCOL1A1chr17:48267361chr22:39631879ENST00000225964-36511093_1095853.01465.0MotifCell attachment site
HgeneCOL1A1chr17:48268177chr22:39631881ENST00000225964-33511093_1095781.01465.0MotifCell attachment site
HgeneCOL1A1chr17:48268743chr22:39631879ENST00000225964-32511093_1095745.01465.0MotifCell attachment site
HgeneCOL1A1chr17:48269835chr22:39631882ENST00000225964-29511093_1095661.01465.0MotifCell attachment site
HgeneCOL1A1chr17:48269835chr22:39631882ENST00000225964-2951745_747661.01465.0MotifCell attachment site
HgeneCOL1A1chr17:48271303chr22:39631879ENST00000225964-25511093_1095589.01465.0MotifCell attachment site
HgeneCOL1A1chr17:48271303chr22:39631879ENST00000225964-2551745_747589.01465.0MotifCell attachment site
HgeneCOL1A1chr17:48274370chr22:39631879ENST00000225964-11511093_1095268.01465.0MotifCell attachment site
HgeneCOL1A1chr17:48274370chr22:39631879ENST00000225964-1151745_747268.01465.0MotifCell attachment site
HgeneCOL1A1chr17:48275309chr22:39631879ENST00000225964-8511093_1095214.01465.0MotifCell attachment site
HgeneCOL1A1chr17:48275309chr22:39631879ENST00000225964-851745_747214.01465.0MotifCell attachment site
HgeneCOL1A1chr17:48275521chr22:39631879ENST00000225964-7511093_1095196.01465.0MotifCell attachment site
HgeneCOL1A1chr17:48275521chr22:39631879ENST00000225964-751745_747196.01465.0MotifCell attachment site
HgeneCOL1A1chr17:48264844chr22:39631879ENST00000225964-46511193_12181141.01465.0RegionNote=Nonhelical region (C-terminal)
HgeneCOL1A1chr17:48264844chr22:39631879ENST00000225964-4651179_11921141.01465.0RegionNote=Triple-helical region
HgeneCOL1A1chr17:48265236chr22:39631879ENST00000225964-45511193_12181123.01465.0RegionNote=Nonhelical region (C-terminal)
HgeneCOL1A1chr17:48265236chr22:39631879ENST00000225964-4551179_11921123.01465.0RegionNote=Triple-helical region
HgeneCOL1A1chr17:48266737chr22:39631879ENST00000225964-39511193_1218943.01465.0RegionNote=Nonhelical region (C-terminal)
HgeneCOL1A1chr17:48266737chr22:39631879ENST00000225964-3951179_1192943.01465.0RegionNote=Triple-helical region
HgeneCOL1A1chr17:48267039chr22:39631879ENST00000225964-38511193_1218889.01465.0RegionNote=Nonhelical region (C-terminal)
HgeneCOL1A1chr17:48267039chr22:39631879ENST00000225964-3851179_1192889.01465.0RegionNote=Triple-helical region
HgeneCOL1A1chr17:48267361chr22:39631879ENST00000225964-36511193_1218853.01465.0RegionNote=Nonhelical region (C-terminal)
HgeneCOL1A1chr17:48267361chr22:39631879ENST00000225964-3651179_1192853.01465.0RegionNote=Triple-helical region
HgeneCOL1A1chr17:48268177chr22:39631881ENST00000225964-33511193_1218781.01465.0RegionNote=Nonhelical region (C-terminal)
HgeneCOL1A1chr17:48268177chr22:39631881ENST00000225964-3351179_1192781.01465.0RegionNote=Triple-helical region
HgeneCOL1A1chr17:48268743chr22:39631879ENST00000225964-32511193_1218745.01465.0RegionNote=Nonhelical region (C-terminal)
HgeneCOL1A1chr17:48268743chr22:39631879ENST00000225964-3251179_1192745.01465.0RegionNote=Triple-helical region
HgeneCOL1A1chr17:48269835chr22:39631882ENST00000225964-29511193_1218661.01465.0RegionNote=Nonhelical region (C-terminal)
HgeneCOL1A1chr17:48269835chr22:39631882ENST00000225964-2951179_1192661.01465.0RegionNote=Triple-helical region
HgeneCOL1A1chr17:48271303chr22:39631879ENST00000225964-25511193_1218589.01465.0RegionNote=Nonhelical region (C-terminal)
HgeneCOL1A1chr17:48271303chr22:39631879ENST00000225964-2551179_1192589.01465.0RegionNote=Triple-helical region
HgeneCOL1A1chr17:48274370chr22:39631879ENST00000225964-11511193_1218268.01465.0RegionNote=Nonhelical region (C-terminal)
HgeneCOL1A1chr17:48274370chr22:39631879ENST00000225964-1151179_1192268.01465.0RegionNote=Triple-helical region
HgeneCOL1A1chr17:48275309chr22:39631879ENST00000225964-8511193_1218214.01465.0RegionNote=Nonhelical region (C-terminal)
HgeneCOL1A1chr17:48275309chr22:39631879ENST00000225964-851179_1192214.01465.0RegionNote=Triple-helical region
HgeneCOL1A1chr17:48275521chr22:39631879ENST00000225964-7511193_1218196.01465.0RegionNote=Nonhelical region (C-terminal)
HgeneCOL1A1chr17:48275521chr22:39631879ENST00000225964-751179_1192196.01465.0RegionNote=Triple-helical region


Top

Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file (655) >>>655.pdbFusion protein BP residue: 275
CIF file (655) >>>655.cif
COL1A1chr1748271303-PDGFBchr2239631879-
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDR
DVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGECCPVCPDGSE
SPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPP
GPPGLGGNFAPQLSYGYDEKSTGGISVPGPMGPSGPRGLPGPPGAPGPQG
FQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQ
GARGLPGTAGLPGMKGHRGFSGLDGAKGDAGPAGPKGEPGSPGENGAPGQ
MGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVG
AKGEAGPQGPRGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGAN
GAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGE
PGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADG
VAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGLTGSPGSPGPD
GKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGDPIPEELYEM
LSDHSIRSFDDLQRLLHGDPGEEDGAELDLNMTRSHSGGELESLARGRRS
LGSLTIAEPAMIAECKTRTEVFEISRRLIDRTNANFLVWPPCVEVQRCSG
CCNNRNVQCRPTQVQLRPVQVRKIEIVRKKPIFKKATVTLEDHLACKCET
VAAARPVTRSPGGSQEQRAKTPQTRVTIRTVRVRRPPKGKHRKFKHTHDK
809
3D view using mol* of 655 (AA BP:275)
PDB file (696) >>>696.pdbFusion protein BP residue: 275
CIF file (696) >>>696.cif
COL1A1chr1748269835-PDGFBchr2239631879-
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDR
DVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGECCPVCPDGSE
SPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPP
GPPGLGGNFAPQLSYGYDEKSTGGISVPGPMGPSGPRGLPGPPGAPGPQG
FQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQ
GARGLPGTAGLPGMKGHRGFSGLDGAKGDAGPAGPKGEPGSPGENGAPGQ
MGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVG
AKGEAGPQGPRGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGAN
GAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGE
PGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADG
VAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGLTGSPGSPGPD
GKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGV
PGPPGAVGPAGKDGEAGAQGPPGPAGPAGERGEQGPAGSPGFQGLPGPAG
PPGEAGKPGEQGDPIPEELYEMLSDHSIRSFDDLQRLLHGDPGEEDGAEL
DLNMTRSHSGGELESLARGRRSLGSLTIAEPAMIAECKTRTEVFEISRRL
IDRTNANFLVWPPCVEVQRCSGCCNNRNVQCRPTQVQLRPVQVRKIEIVR
KKPIFKKATVTLEDHLACKCETVAAARPVTRSPGGSQEQRAKTPQTRVTI
881
3D view using mol* of 696 (AA BP:275)
PDB file (797) >>>797.pdbFusion protein BP residue: 275
CIF file (797) >>>797.cif
COL1A1chr1748267219-PDGFBchr2239631879-
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDR
DVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGECCPVCPDGSE
SPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPP
GPPGLGGNFAPQLSYGYDEKSTGGISVPGPMGPSGPRGLPGPPGAPGPQG
FQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQ
GARGLPGTAGLPGMKGHRGFSGLDGAKGDAGPAGPKGEPGSPGENGAPGQ
MGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVG
AKGEAGPQGPRGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGAN
GAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGE
PGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADG
VAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGLTGSPGSPGPD
GKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGV
PGPPGAVGPAGKDGEAGAQGPPGPAGPAGERGEQGPAGSPGFQGLPGPAG
PPGEAGKPGEQGVPGDLGAPGPSGARGERGFPGERGVQGPPGPAGPRGAN
GAPGNDGAKGDAGAPGAPGSQGAPGLQGMPGERGAAGLPGPKGDRGDAGP
KGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGESGPSGPAGPTGARGAPG
DRGEPGPPGPAGFAGPPGADGQPGAKGEPGDAGAKGDAGPPGPAGPAGPP
GPIGNVGAPGAKGARGSAGPPGDPIPEELYEMLSDHSIRSFDDLQRLLHG
DPGEEDGAELDLNMTRSHSGGELESLARGRRSLGSLTIAEPAMIAECKTR
TEVFEISRRLIDRTNANFLVWPPCVEVQRCSGCCNNRNVQCRPTQVQLRP
VQVRKIEIVRKKPIFKKATVTLEDHLACKCETVAAARPVTRSPGGSQEQR
1091
3D view using mol* of 797 (AA BP:275)


Top

pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
COL1A1_pLDDT.png
all structure
all structure
PDGFB_pLDDT.png
all structure
all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
COL1A1_PDGFB_655_pLDDT.png (AA BP:275)
all structure
COL1A1_PDGFB_655_pLDDT_and_active_sites.png (AA BP:275)
all structure
COL1A1_PDGFB_655_violinplot.png (AA BP:275)
all structure
COL1A1_PDGFB_696_pLDDT.png (AA BP:275)
all structure
COL1A1_PDGFB_696_pLDDT_and_active_sites.png (AA BP:275)
all structure
COL1A1_PDGFB_696_violinplot.png (AA BP:275)
all structure
COL1A1_PDGFB_797_pLDDT.png (AA BP:275)
all structure
COL1A1_PDGFB_797_pLDDT_and_active_sites.png (AA BP:275)
all structure
COL1A1_PDGFB_797_violinplot.png (AA BP:275)
all structure


Top

Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots
COL1A1_PDGFB_655.png
all structure
COL1A1_PDGFB_696.png
all structure
COL1A1_PDGFB_797.png
all structure

Top

Potential Active Site Information


check button The potential binding sites of these fusion proteins were identified using SiteMap, a module of the Schrodinger suite.
Fusion AA seq ID in FusionPDBSite scoreSizeD scoreVolumeExposureEnclosureContactPhobicPhilicBalanceDon/AccResidues
6550.851700.771157.4370.6280.6540.8680.1241.250.0991.138Chain A: 602,603,604,605,606,607,662,664,665,701,7
02,703,707,747,748,750
6960.991050.96260.3370.6070.6830.8460.2071.1930.1741.046Chain A: 667,670,671,674,675,676,677,678,679,733,7
34,736,737,773,774,775,776,778,779,819,820,821,822
,823,824,825
7970.9931000.981285.0330.620.6880.8870.3711.140.3251.144Chain A: 105,877,880,881,883,884,885,886,887,888,8
89,943,944,946,947,948,983,984,985,986,988,989,102
9,1030,1031,1032,1033,1034,1035

Top

Potentially Interacting Small Molecules through Virtual Screening


check button The FDA-approved small molecule library molecules were subjected to virtual screening using the Glide.
Fusion AA seq ID in FusionPDBZINC IDDrugBank IDDrug nameDocking scoreGlide gscore
655ZINC000003830944DB01362Iohexol-7.9223-7.9223
655ZINC000003830945DB01362Iohexol-6.85958-6.85958
655ZINC000000039089DB00668Epinephrine-6.72347-6.73487
655ZINC000004228257DB00360Sapropterin-6.63356-6.65326
655ZINC000003861768DB00928Azacitidine-6.1405-6.5597
655ZINC000001547851DB11868Etiracetam-6.5378-6.5378
655ZINC000000005878DB02701Nicotinamide-6.47586-6.47586
655ZINC000001995484DB01610Valganciclovir-6.21937-6.43267
655ZINC000000896731DB00744Zileuton-6.38877-6.40737
655ZINC000018043251DB00277Theophylline-6.36682-6.39932
655ZINC000000004724DB00776Oxcarbazepine-6.38004-6.38004
655ZINC000013597823DB00900Didanosine-6.24894-6.33154
655ZINC000000000850DB00744Zileuton-6.31251-6.33111
655ZINC000000002005DB00339Pyrazinamide-6.32092-6.32092
655ZINC000003831139DB00745Modafinil-6.31473-6.31473
655ZINC000016929327DB01262Decitabine-5.85146-6.27086
655ZINC000001530803DB00949Felbamate-6.24275-6.24275
655ZINC000000156792DB01193Acebutolol-6.23024-6.23194
655ZINC000003806262DB00552Pentostatin-6.15061-6.18021
655ZINC000001543916DB01610Valganciclovir-5.95062-6.16392

Top

check button Drug information from DrugBank of the top 20 interacting small molecules.
ZINC IDDrugBank IDDrug nameDrug typeSMILESDrug group
ZINC000000039089DB00668EpinephrineSmall moleculeCNC[C@H](O)C1=CC(O)=C(O)C=C1Approved|Vet_approved
ZINC000003861768DB00928AzacitidineSmall moleculeNC1=NC(=O)N(C=N1)[C@@H]1O[C@H](CO)[C@@H](O)[C@H]1OApproved|Investigational
ZINC000000005878DB02701NicotinamideSmall moleculeNC(=O)C1=CC=CN=C1Approved|Investigational
ZINC000000896731DB00744ZileutonSmall moleculeCC(N(O)C(N)=O)C1=CC2=CC=CC=C2S1Approved|Investigational|Withdrawn
ZINC000018043251DB00277TheophyllineSmall moleculeCN1C2=C(NC=N2)C(=O)N(C)C1=OApproved
ZINC000000004724DB00776OxcarbazepineSmall moleculeNC(=O)N1C2=CC=CC=C2CC(=O)C2=C1C=CC=C2Approved
ZINC000013597823DB00900DidanosineSmall moleculeOC[C@@H]1CC[C@@H](O1)N1C=NC2=C1NC=NC2=OApproved
ZINC000000002005DB00339PyrazinamideSmall moleculeNC(=O)C1=NC=CN=C1Approved|Investigational
ZINC000003831139DB00745ModafinilSmall moleculeNC(=O)CS(=O)C(C1=CC=CC=C1)C1=CC=CC=C1Approved|Investigational
ZINC000016929327DB01262DecitabineSmall moleculeNC1=NC(=O)N(C=N1)[C@H]1C[C@H](O)[C@@H](CO)O1Approved|Investigational
ZINC000001530803DB00949FelbamateSmall moleculeNC(=O)OCC(COC(N)=O)C1=CC=CC=C1Approved
ZINC000003806262DB00552PentostatinSmall moleculeOC[C@H]1O[C@H](C[C@@H]1O)N1C=NC2=C1N=CNC[C@H]2OApproved|Investigational
ZINC000001543916DB01610ValganciclovirSmall moleculeCC(C)[C@H](N)C(=O)OCC(CO)OCN1C=NC2=C1NC(N)=NC2=OApproved|Investigational

Top

Biochemical Features of Small Molecules


check button ADME (Absorption, Distribution, Metabolism, and Excretion) of drugs using QikProp(v3.9)
ZINC IDmol_MWdipoleSASAFOSAFISAPISAWPSAvolumedonorHBaccptHBIPHuman Oral AbsorptionPercent Human Oral AbsorptionRule Of FiveRule Of Three
ZINC000003830944821.1433.746800.499332.755343.8249.483114.4361490.981818.29.7011031
ZINC000003830945821.1436.563790.789299.687371.4768.079111.5461486.416818.29.451031
ZINC000000039089183.2070.987415.609139.04163.719112.850664.11744.79.006256.40200
ZINC000000039089183.2071.06412.1135.076165.027111.9960658.64344.79.004256.18600
ZINC000004228257241.2497.058447.535159.775268.53619.2230742.97178.97.522229.42710
ZINC000004228257241.24910.846445.922159.81267.19618.9150744.46278.97.661229.81310
ZINC000003861768244.2077.104434.888110.158287.61337.1170717.082510.89.386236.48901
ZINC000003861768244.2078.996434.766110.132287.56937.0650716.913510.89.305236.49601
ZINC000003861768244.2076.643431.18393.993304.89532.2940718.65511.89.707231.37201
ZINC000001547851170.2113.554386.861254.133132.72800627.87225.59.606259.07500
ZINC000000005878122.1266.802305.2170139.794165.4220456.2722410.075272.90700
ZINC000001995484354.3659.631568.054246.752278.13743.16601064.885611.98.54215.89521
ZINC000001995484354.36511.53614.893262.115314.10338.67501087.654611.98.4541021
ZINC000000896731236.2883.773444.59884.301131.134195.10534.058746.48133.78.644378.1800
ZINC000000896731236.2885.297450.81685.528135.414201.88127.993746.81233.78.57376.55600
ZINC000018043251180.1665.101367.499156.069142.57668.8550583.234159.081274.14900
ZINC000018043251180.1663.85368.83158.437132.21178.1820584.316159.211376.33200
ZINC000000004724252.2724.767462.65934.19134.85293.6190794.353249.343377.84800
ZINC000013597823236.239.641435.158159.57170.601104.9870727.85628.48.967366.61800
ZINC000013597823236.238.965441.067165.063181.17394.8310736.52728.48.782364.56100
ZINC000000000850236.2885.297457.64285.783137.035198.52336.3755.01533.78.91375.35100
ZINC000000000850236.2885.297450.83785.532135.419201.89327.994746.83933.78.57376.55500
ZINC000000002005123.1145.397301.5070160.969140.5380446.636259.967267.42900
ZINC000003831139273.3496.076507.00736.263124.732330.04515.967873.13815.59.061255.12301
ZINC000016929327228.2076.404419.717123.692262.10133.9250692.11549.19.544243.04300
ZINC000016929327228.2077.988419.927123.411262.44334.0720692.27949.19.468242.98200
ZINC000016929327228.2075.889424.346123.621268.44332.2820698.619410.19.722241.31900
ZINC000001530803238.2435.857509.12763.732267.198178.1970822.851459.776254.63300
ZINC000000156792336.436.59723.464502.446130.41390.60401234.44538.458.879375.56400
ZINC000003806262268.2721.452502.362225.071237.12940.1620835.80349.88.337251.84800
ZINC000003806262268.2721.378469.669223.737214.90231.030809.61749.88.34256.16400
ZINC000001543916354.36510.833656.576282.226307.95566.39601129.771611.98.35910.46621
ZINC000001543916354.3658.84635.736259.299319.15557.28201114.93611.98.3181021


Top

Drug Toxicity Information


check button Toxicity information of individual drugs using eToxPred
ZINC IDSmileSurface AccessibilityToxicity
ZINC000003830944CC(=O)N(C[C@@H](O)CO)c1c(I)c(C(=O)NC[C@H](O)CO)c(I)c(C(=O)NC[C@H](O)CO)c1I0.0423322430.211666342
ZINC000003830945CC(=O)N(C[C@H](O)CO)c1c(I)c(C(=O)NC[C@H](O)CO)c(I)c(C(=O)NC[C@@H](O)CO)c1I0.0423322430.211666342
ZINC000000039089CNC[C@H](O)c1ccc(O)c(O)c10.1917482760.25662051
ZINC000004228257C[C@H](O)[C@@H](O)[C@@H]1CNc2nc(N)[nH]c(=O)c2N10.0314105690.318425003
ZINC000003861768Nc1ncn([C@@H]2O[C@H](CO)[C@@H](O)[C@H]2O)c(=O)n10.0680571610.388956815
ZINC000001547851CC[C@@H](C(N)=O)N1CCCC1=O0.1573358610.410047131
ZINC000000005878NC(=O)c1cccnc10.5011671010.494207739
ZINC000001995484CC(C)[C@H](N)C(=O)OC[C@H](CO)OCn1cnc2c(=O)[nH]c(N)nc210.0662231610.39718523
ZINC000000896731C[C@H](c1cc2ccccc2s1)N(O)C(N)=O0.1363358820.223511692
ZINC000018043251Cn1c(=O)c2[nH]cnc2n(C)c1=O0.2136154650.321876059
ZINC000000004724NC(=O)N1c2ccccc2CC(=O)c2ccccc210.3140267360.439183728
ZINC000013597823O=c1[nH]cnc2c1ncn2[C@H]1CC[C@@H](CO)O10.0734594820.448698447
ZINC000000000850C[C@@H](c1cc2ccccc2s1)N(O)C(N)=O0.1363358820.223511692
ZINC000000002005N=C(O)c1cnccn10.1635580360.672419783
ZINC000003831139NC(=O)C[S@](=O)C(c1ccccc1)c1ccccc10.1915692610.489801219
ZINC000016929327Nc1ncn([C@H]2C[C@H](O)[C@@H](CO)O2)c(=O)n10.0711317810.402029462
ZINC000001530803NC(=O)OCC(COC(N)=O)c1ccccc10.2630725310.486745085
ZINC000000156792CCCC(=O)Nc1ccc(OC[C@@H](O)CNC(C)C)c(C(C)=O)c10.2084012030.251834481
ZINC000003806262OC[C@H]1O[C@@H](n2cnc3c2N=CNC[C@H]3O)C[C@@H]1O0.0242366470.504660299
ZINC000001543916CC(C)[C@H](N)C(=O)OC[C@@H](CO)OCn1cnc2c(=O)[nH]c(N)nc210.0662231610.39718523


Top

Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors
COL1A1IGFBP3, TXN, ITGA2, ITGB1, NID1, Nid1, NID2, SPARC, PRELP, PKD1, VWF, THBS1, MMP2, COL7A1, MATN2, MAG, ELAVL1, ATP13A2, C12orf57, RNH1, BARD1, BRCA1, UBC, CAPN1, COL1A1, COL1A2, PDGFA, PDGFB, GIPC2, UBXN11, DNM3, CD200R1, TMTC4, ERAL1, CAMKMT, TMEM180, OTUB1, EGFR, COLGALT2, P4HA2, PLOD1, LIN9, TIMM44, RASGEF1B, TLE3, YAF2, LPAR1, CYLD, MCPH1, HEXIM1, PPP1CC, KEAP1, PINK1, CDC42, NMRAL1, PAX3, NTPCR, FOXO1, IGLC1, DDX58, YIPF1, LAIR2, LAT, KIAA1191, SLC25A40, CTNND1, FOXD3, CHMP3, ZNF645, CD247, RANBP6, TRIM41, TNFRSF10D, KIR3DS1, SMDT1, PPIA, PEG10, TMEM44, RNF144A, VCP, TESPA1, ABHD14A, TADA1, ST3GAL3, KLF15, BGN, TGM2, COL18A1, NLRP7,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
COL1A1all structure
PDGFBall structure


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

Related Drugs to COL1A1-PDGFB


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

Top

Related Diseases to COL1A1-PDGFB


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID
COL1A1PDGFBDermatofibrosarcoma Protuberans Invasive Breast CarcinomaMyCancerGenome

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOL1A1C0268358Osteogenesis imperfecta, dominant perinatal lethal38CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL1A1C0268362Osteogenesis imperfecta type III (disorder)17CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL1A1C0023931Lobstein Disease15CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL1A1C0268363Osteogenesis imperfecta type IV (disorder)12GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL1A1C0023890Liver Cirrhosis4CTD_human
HgeneCOL1A1C0239946Fibrosis, Liver4CTD_human
HgeneCOL1A1C4551623EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 14CTD_human;GENOMICS_ENGLAND
HgeneCOL1A1C4552122EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 14GENOMICS_ENGLAND;UNIPROT
HgeneCOL1A1C0020497Cortical Congenital Hyperostosis3CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneCOL1A1C0023893Liver Cirrhosis, Experimental3CTD_human
HgeneCOL1A1C0268345EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE2ORPHANET
HgeneCOL1A1C0000786Spontaneous abortion1CTD_human
HgeneCOL1A1C0000822Abortion, Tubal1CTD_human
HgeneCOL1A1C0002949Aneurysm, Dissecting1CTD_human
HgeneCOL1A1C0003504Aortic Valve Insufficiency1CTD_human
HgeneCOL1A1C0004364Autoimmune Diseases1CTD_human
HgeneCOL1A1C0005398Cholestasis, Extrahepatic1CTD_human
HgeneCOL1A1C0005779Blood Coagulation Disorders1GENOMICS_ENGLAND
HgeneCOL1A1C0006663Calcinosis1CTD_human
HgeneCOL1A1C0008311Cholangitis1CTD_human
HgeneCOL1A1C0013720Ehlers-Danlos Syndrome1GENOMICS_ENGLAND
HgeneCOL1A1C0016059Fibrosis1CTD_human
HgeneCOL1A1C0018824Heart valve disease1CTD_human
HgeneCOL1A1C0020538Hypertensive disease1CTD_human
HgeneCOL1A1C0022548Keloid1CTD_human
HgeneCOL1A1C0027719Nephrosclerosis1CTD_human
HgeneCOL1A1C0027726Nephrotic Syndrome1CTD_human
HgeneCOL1A1C0029172Oral Submucous Fibrosis1CTD_human
HgeneCOL1A1C0029434Osteogenesis Imperfecta1CTD_human;GENOMICS_ENGLAND
HgeneCOL1A1C0149721Left Ventricular Hypertrophy1CTD_human
HgeneCOL1A1C0220679Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified1ORPHANET
HgeneCOL1A1C0263628Tumoral calcinosis1CTD_human
HgeneCOL1A1C0340643Dissection of aorta1CTD_human
HgeneCOL1A1C0521174Microcalcification1CTD_human
HgeneCOL1A1C1458140Bleeding tendency1GENOMICS_ENGLAND
HgeneCOL1A1C1619692Nephrogenic Fibrosing Dermopathy1CTD_human
HgeneCOL1A1C1623038Cirrhosis1CTD_human
HgeneCOL1A1C1846545Autoimmune Lymphoproliferative Syndrome Type 2B1GENOMICS_ENGLAND
HgeneCOL1A1C3830362Early Pregnancy Loss1CTD_human
HgeneCOL1A1C4277533Dissection, Blood Vessel1CTD_human
HgeneCOL1A1C4552766Miscarriage1CTD_human
TgenePDGFBC3809645BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 55CTD_human;GENOMICS_ENGLAND;UNIPROT
TgenePDGFBC0393590Fahr's syndrome (disorder)3GENOMICS_ENGLAND;ORPHANET
TgenePDGFBC0004782Basal Ganglia Diseases1CTD_human
TgenePDGFBC0006663Calcinosis1CTD_human
TgenePDGFBC0015371Extrapyramidal Disorders1CTD_human
TgenePDGFBC0016059Fibrosis1CTD_human
TgenePDGFBC0017566Gingival Hyperplasia1CTD_human
TgenePDGFBC0025286Meningioma1ORPHANET
TgenePDGFBC0034069Pulmonary Fibrosis1CTD_human
TgenePDGFBC0035309Retinal Diseases1CTD_human
TgenePDGFBC0040028Thrombocythemia, Essential1CTD_human
TgenePDGFBC0263628Tumoral calcinosis1CTD_human
TgenePDGFBC0521174Microcalcification1CTD_human
TgenePDGFBC0750951Lenticulostriate Disorders1CTD_human
TgenePDGFBC1623038Cirrhosis1CTD_human
TgenePDGFBC2239176Liver carcinoma1CTD_human
TgenePDGFBC3489628Thrombocytosis, Autosomal Dominant1CTD_human
TgenePDGFBC4551624Idiopathic basal ganglia calcification 11CTD_human
TgenePDGFBC4721507Alveolitis, Fibrosing1CTD_human