Fusion Gene Studies
in Kim Lab

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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:COL3A1-SEC63 (FusionGDB2 ID:HG1281TG11231)

Fusion Gene Summary for COL3A1-SEC63

check button Fusion gene summary
Fusion gene informationFusion gene name: COL3A1-SEC63
Fusion gene ID: hg1281tg11231
HgeneTgene
Gene symbol

COL3A1

SEC63

Gene ID

1281

11231

Gene namecollagen type III alpha 1 chainSEC63 homolog, protein translocation regulator
SynonymsEDS4A|EDSVASC|PMGEDSVDNAJC23|ERdj2|PCLD2|PRO2507|SEC63L
Cytomap('COL3A1')('SEC63')

2q32.2

6q21

Type of geneprotein-codingprotein-coding
Descriptioncollagen alpha-1(III) chainEhlers-Danlos syndrome type IV, autosomal dominantalpha-1 type III collagenalpha1 (III) collagencollagen, fetalcollagen, type III, alpha 1translocation protein SEC63 homologSEC63 protein translocation regulatorSEC63-like protein
Modification date2020031320200313
UniProtAcc

P02461

.
Ensembl transtripts involved in fusion geneENST00000304636, ENST00000317840, 
Fusion gene scores* DoF score46 X 40 X 15=2760038 X 14 X 15=7980
# samples 5639
** MAII scorelog2(56/27600*10)=-5.62309762960793
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(39/7980*10)=-4.3548427173601
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: COL3A1 [Title/Abstract] AND SEC63 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCOL3A1(189877472)-SEC63(108214782), # samples:1
Anticipated loss of major functional domain due to fusion event.COL3A1-SEC63 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.
COL3A1-SEC63 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
HgeneCOL3A1

GO:0007160

cell-matrix adhesion

16912226

HgeneCOL3A1

GO:0007179

transforming growth factor beta receptor signaling pathway

16360482

HgeneCOL3A1

GO:0009314

response to radiation

14736764

HgeneCOL3A1

GO:0018149

peptide cross-linking

16754721

HgeneCOL3A1

GO:0034097

response to cytokine

9076960|16360482

HgeneCOL3A1

GO:0042060

wound healing

1466622


check buttonFusion gene breakpoints across COL3A1 (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 SEC63 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information 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
ChimerDB4UCSTCGA-NA-A5I1-01ACOL3A1chr2

189877472

-SEC63chr6

108214782

-


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Fusion Gene ORF analysis for COL3A1-SEC63

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-intronENST00000304636ENST00000460009COL3A1chr2

189877472

-SEC63chr6

108214782

-
5CDS-intronENST00000317840ENST00000460009COL3A1chr2

189877472

-SEC63chr6

108214782

-
In-frameENST00000304636ENST00000369002COL3A1chr2

189877472

-SEC63chr6

108214782

-
In-frameENST00000317840ENST00000369002COL3A1chr2

189877472

-SEC63chr6

108214782

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000304636COL3A1chr2189877472-ENST00000369002SEC63chr6108214782-10197554317045701466
ENST00000317840COL3A1chr2189877472-ENST00000369002SEC63chr6108214782-9235458111736081163

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
ENST00000304636ENST00000369002COL3A1chr2189877472-SEC63chr6108214782-0.0005344120.99946564
ENST00000317840ENST00000369002COL3A1chr2189877472-SEC63chr6108214782-0.0003499140.9996501

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Fusion Genomic Features for COL3A1-SEC63


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

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

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Fusion Protein Features for COL3A1-SEC63


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/chr2:189877472/chr6:108214782)
- 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
COL3A1

P02461

.
FUNCTION: Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCOL3A1chr2:189877472chr6:108214782ENST00000304636-51511232_146617911467.0DomainFibrillar collagen NC1
HgeneCOL3A1chr2:189877472chr6:108214782ENST00000304636-515130_8917911467.0DomainVWFC
HgeneCOL3A1chr2:189877472chr6:108214782ENST00000304636-51511197_120517911467.0RegionNote=Nonhelical region (C-terminal)
HgeneCOL3A1chr2:189877472chr6:108214782ENST00000304636-5151149_16717911467.0RegionNote=Nonhelical region (N-terminal)
HgeneCOL3A1chr2:189877472chr6:108214782ENST00000304636-5151168_119617911467.0RegionNote=Triple-helical region
TgeneSEC63chr2:189877472chr6:108214782ENST00000369002021597_6350761.0Coiled coilOntology_term=ECO:0000255
TgeneSEC63chr2:189877472chr6:108214782ENST00000369002021734_7600761.0Compositional biasNote=Asp/Glu-rich (highly acidic)
TgeneSEC63chr2:189877472chr6:108214782ENST00000369002021104_1650761.0DomainJ
TgeneSEC63chr2:189877472chr6:108214782ENST00000369002021197_5410761.0DomainNote=SEC63 1
TgeneSEC63chr2:189877472chr6:108214782ENST00000369002021637_7140761.0DomainNote=SEC63 2
TgeneSEC63chr2:189877472chr6:108214782ENST000003690020211_140761.0Topological domainLumenal
TgeneSEC63chr2:189877472chr6:108214782ENST00000369002021210_7600761.0Topological domainCytoplasmic
TgeneSEC63chr2:189877472chr6:108214782ENST0000036900202136_690761.0Topological domainCytoplasmic
TgeneSEC63chr2:189877472chr6:108214782ENST0000036900202191_1880761.0Topological domainLumenal
TgeneSEC63chr2:189877472chr6:108214782ENST0000036900202115_350761.0TransmembraneHelical
TgeneSEC63chr2:189877472chr6:108214782ENST00000369002021189_2090761.0TransmembraneHelical
TgeneSEC63chr2:189877472chr6:108214782ENST0000036900202170_900761.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for COL3A1-SEC63


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>18325_18325_1_COL3A1-SEC63_COL3A1_chr2_189877472_ENST00000304636_SEC63_chr6_108214782_ENST00000369002_length(transcript)=10197nt_BP=5543nt
GTGAGGGAAGCCAAACTTTTTCCTATTTAAGGCCAAAGCAAAGGAATCTCAGTGGCTGAGTTTTATGACGGGCCCGGTGCTGAAGGGCAG
GGAACAACTTGATGGTGCTACTTTGAACTGCTTTTCTTTTCTCCTTTTTGCACAAAGAGTCTCATGTCTGATATTTAGACATGATGAGCT
TTGTGCAAAAGGGGAGCTGGCTACTTCTCGCTCTGCTTCATCCCACTATTATTTTGGCACAACAGGAAGCTGTTGAAGGAGGATGTTCCC
ATCTTGGTCAGTCCTATGCGGATAGAGATGTCTGGAAGCCAGAACCATGCCAAATATGTGTCTGTGACTCAGGATCCGTTCTCTGCGATG
ACATAATATGTGACGATCAAGAATTAGACTGCCCCAACCCAGAAATTCCATTTGGAGAATGTTGTGCAGTTTGCCCACAGCCTCCAACTG
CTCCTACTCGCCCTCCTAATGGTCAAGGACCTCAAGGCCCCAAGGGAGATCCAGGCCCTCCTGGTATTCCTGGGAGAAATGGTGACCCTG
GTATTCCAGGACAACCAGGGTCCCCTGGTTCTCCTGGCCCCCCTGGAATCTGTGAATCATGCCCTACTGGTCCTCAGAACTATTCTCCCC
AGTATGATTCATATGATGTCAAGTCTGGAGTAGCAGTAGGAGGACTCGCAGGCTATCCTGGACCAGCTGGCCCCCCAGGCCCTCCCGGTC
CCCCTGGTACATCTGGTCATCCTGGTTCCCCTGGATCTCCAGGATACCAAGGACCCCCTGGTGAACCTGGGCAAGCTGGTCCTTCAGGCC
CTCCAGGACCTCCTGGTGCTATAGGTCCATCTGGTCCTGCTGGAAAAGATGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGAT
TGCCTGGACCTCCAGGTATCAAAGGTCCAGCTGGGATACCTGGATTCCCTGGTATGAAAGGACACAGAGGCTTCGATGGACGAAATGGAG
AAAAGGGTGAAACAGGTGCTCCTGGATTAAAGGGTGAAAATGGTCTTCCAGGCGAAAATGGAGCTCCTGGACCCATGGGTCCAAGAGGGG
CTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGGTGCTCGGGGTAATGACGGTGCTCGAGGCAGTGATGGTCAACCAGGCC
CTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGGTGAAGTTGGACCTGCAGGGTCTCCTGGTTCAAATGGTG
CCCCTGGACAAAGAGGAGAACCTGGACCTCAGGGACACGCTGGTGCTCAAGGTCCTCCTGGCCCTCCTGGGATTAATGGTAGTCCTGGTG
GTAAAGGCGAAATGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTG
CTCCTGGACTGCGAGGTGGTGCAGGTGAGCCTGGTAAGAATGGTGCCAAAGGAGAGCCCGGACCACGTGGTGAACGCGGTGAGGCTGGTA
TTCCAGGTGTTCCAGGAGCTAAAGGCGAAGATGGCAAGGATGGATCACCTGGAGAACCTGGTGCAAATGGGCTTCCAGGAGCTGCAGGAG
AAAGGGGTGCCCCTGGGTTCCGAGGACCTGCTGGACCAAATGGCATCCCAGGAGAAAAGGGTCCTGCTGGAGAGCGTGGTGCTCCAGGCC
CTGCAGGGCCCAGAGGAGCTGCTGGAGAACCTGGCAGAGATGGCGTCCCTGGAGGTCCAGGAATGAGGGGCATGCCCGGAAGTCCAGGAG
GACCAGGAAGTGATGGGAAACCAGGGCCTCCCGGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTC
AGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGGTGCTCCTGGTAAGAATGGAGAACGAGGTGGCCCTGGAGGACCTGGCC
CTCAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACTGGGCCTGGTGGTGACAAAGGAGACACAGGAC
CCCCTGGTCCACAAGGATTACAAGGCTTGCCTGGTACAGGTGGTCCTCCAGGAGAAAATGGAAAACCTGGGGAACCAGGTCCAAAGGGTG
ATGCCGGTGCACCTGGAGCTCCAGGAGGCAAGGGTGATGCTGGTGCCCCTGGTGAACGTGGACCTCCTGGATTGGCAGGGGCCCCAGGAC
TTAGAGGTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGGGTGCTGCTGGTCCTCCTGGGCCACCTGGTGCTGCTGGTACTCCTGGTC
TGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTGACAAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTG
TCCCAGGGAAAGATGGCCCAAGGGGTCCTACTGGTCCTATTGGTCCTCCTGGCCCAGCTGGCCAGCCTGGAGATAAGGGTGAAGGTGGTG
CCCCCGGACTTCCAGGTATAGCTGGACCTCGTGGTAGCCCTGGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTG
CTCCTGGACAGAATGGTGAACCTGGTGGTAAAGGAGAAAGAGGGGCTCCGGGTGAGAAAGGTGAAGGAGGCCCTCCTGGAGTTGCAGGAC
CCCCTGGAGGTTCTGGACCTGCTGGTCCTCCTGGTCCCCAAGGTGTCAAAGGTGAACGTGGCAGTCCTGGTGGACCTGGTGCTGCTGGCT
TCCCTGGTGCTCGTGGTCTTCCTGGTCCTCCTGGTAGTAATGGTAACCCAGGACCCCCAGGTCCCAGCGGTTCTCCAGGCAAGGATGGGC
CCCCAGGTCCTGCGGGTAACACTGGTGCTCCTGGCAGCCCTGGAGTGTCTGGACCAAAAGGTGATGCTGGCCAACCAGGAGAGAAGGGAT
CGCCTGGTGCCCAGGGCCCACCAGGAGCTCCAGGCCCACTTGGGATTGCTGGGATCACTGGAGCACGGGGTCTTGCAGGACCACCAGGCA
TGCCAGGTCCTAGGGGAAGCCCTGGCCCTCAGGGTGTCAAGGGTGAAAGTGGGAAACCAGGAGCTAACGGTCTCAGTGGAGAACGTGGTC
CCCCTGGACCCCAGGGTCTTCCTGGTCTGGCTGGTACAGCTGGTGAACCTGGAAGAGATGGAAACCCTGGATCAGATGGTCTTCCAGGCC
GAGATGGATCTCCTGGTGGCAAGGGTGATCGTGGTGAAAATGGCTCTCCTGGTGCCCCTGGCGCTCCTGGTCATCCAGGCCCACCTGGTC
CTGTCGGTCCAGCTGGAAAGAGTGGTGACAGAGGAGAAAGTGGCCCTGCTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGTTCCCGAGGTG
CTCCTGGTCCTCAAGGCCCACGTGGTGACAAAGGTGAAACAGGTGAACGTGGAGCTGCTGGCATCAAAGGACATCGAGGATTCCCTGGTA
ATCCAGGTGCCCCAGGTTCTCCAGGCCCTGCTGGTCAGCAGGGTGCAATCGGCAGTCCAGGACCTGCAGGCCCCAGAGGACCTGTTGGAC
CCAGTGGACCTCCTGGCAAAGATGGAACCAGTGGACATCCAGGTCCCATTGGACCACCAGGGCCTCGAGGTAACAGAGGTGAAAGAGGAT
CTGAGGGCTCCCCAGGCCACCCAGGGCAACCAGGCCCTCCTGGACCTCCTGGTGCCCCTGGTCCTTGCTGTGGTGGTGTTGGAGCCGCTG
CCATTGCTGGGATTGGAGGTGAAAAAGCTGGCGGTTTTGCCCCGTATTATGGAGATGAACCAATGGATTTCAAAATCAACACCGATGAGA
TTATGACTTCACTCAAGTCTGTTAATGGACAAATAGAAAGCCTCATTAGTCCTGATGGTTCTCGTAAAAACCCCGCTAGAAACTGCAGAG
ACCTGAAATTCTGCCATCCTGAACTCAAGAGTGGAGAATACTGGGTTGACCCTAACCAAGGATGCAAATTGGATGCTATCAAGGTATTCT
GTAATATGGAAACTGGGGAAACATGCATAAGTGCCAATCCTTTGAATGTTCCACGGAAACACTGGTGGACAGATTCTAGTGCTGAGAAGA
AACACGTTTGGTTTGGAGAGTCCATGGATGGTGGTTTTCAGTTTAGCTACGGCAATCCTGAACTTCCTGAAGATGTCCTTGATGTGCATC
TGGCATTCCTTCGACTTCTCTCCAGCCGAGCTTCCCAGAACATCACATATCACTGCAAAAATAGCATTGCATACATGGATCAGGCCAGTG
GAAATGTAAAGAAGGCCCTGAAGCTGATGGGGTCAAATGAAGGTGAATTCAAGGCTGAAGGAAATAGCAAATTCACCTACACAGTTCTGG
AGGATGGTTGCACGAAACACACTGGGGAATGGAGCAAAACAGTCTTTGAATATCGAACACGCAAGGCTGTGAGACTACCTATTGTAGATA
TTGCACCCTATGACATTGGTGGTCCTGATCAAGAATTTGGTGTGGACGTTGGCCCTGTTTGCTTTTTATAAACCAAACTCTATCTGAAAT
CCCAACAAAAAAAATTTAACTCCATATGTGTTCCTCTTGTTCTAATCTTGTCAACCAGTGCAAGTGACCGACAAAATTCCAGTTATTTAT
TTCCAAAATGTTTGGAAACAGTATAATTTGACAAAGAAAAATGATACTTCTCTTTTTTTGCTGTTCCACCAAATACAATTCAAATGCTTT
TTGTTTTATTTTTTTACCAATTCCAATTTCAAAATGTCTCAATGGTGCTATAATAAATAAACTTCAACACTCTTTATGATAACAACACTG
TGTTATATTCTTTGAATCCTAGCCCATCTGCAGAGCAATGACTGTGCTCACCAGTAAAAGATAACCTTTCTTTCTGAAATAGTCAAATAC
GAAATTAGAAAAGCCCTCCCTATTTTAACTACCTCAACTGGTCAGAAACACAGATTGTATTCTATGAGTCCCAGAAGATGAAAAAAATTT
TATACGTTGATAAAACTTATAAATTTCATTGATTAATCTCCTGGAAGATTGGTTTAAAAAGAAAAGTGTAATGCAAGAATTTAAAGAAAT
ATTTTTAAAGCCACAATTATTTTAATATTGGATATCAACTGCTTGTAAAGGTGCTCCTCTTTTTTCTTGTCATTGCTGGTCAAGATTACT
AATATTTGGGAAGGCTTTAAAGACGCATGTTATGGTGCTAATGTACTTTCACTTTTAAACTCTAGATCAGAATTGTTGACTTGCATTCAG
AACATAAATGCACAAAATCTGTACATGTCTCCCATCAGAAAGATTCATTGGCATGCCACAGGGGATTCTCCTCCTTCATCCTGTAAAGGT
CAACAATAAAAACCAAATTATGGGGCTGCTTTTGTCACACTAGCATAGAGAATGTGTTGAAATTTAACTTTGTAAGCTTGTATGTGGTTG
TTGATCTTTTTTTTCCTTACAGACACCCATAATAAAATATCATATTAAAATTCTTGGAAGTTCATGAGGCTAAGCCTGTGCCAGAAAATC
ACCCACAGTGGGATACAGCAATAGAGGGGGATGAAGACCAGGAGGACAGTGAGGGCTTTGAAGATAGCTTTGAGGAAGAAGAGGAGGAAG
AAGAAGATGATGACTAAGCAGTACTCTGAATGGACCACAGTGTTTGCACATATTTGCAATTTTTTGCTGTTTTGGAAGTGTATCATAAAC
CAGAAACAGTACAGAACTGATGTTGAGGGAGGTGTAGTTTTTTTACTCTTGAAATGGGTGCATAATATAACTAGGCAGTGGCGGTGCCTT
GGTACAACCTGAAAAATGTTAAGGCTTATTGAAACCTTTCAAGTAGGGGATGGTACATTTATTTCATCTGCAAATGATAATAAATCCTTT
GTTATTATAACTGTCCAGAAGTGTGGGCTATGTATTATCTGATCAGTCTATGGTCCCAGTAAAAGTAAAGATGCAGGAAACACAGTCTGT
AAATGAGCGACTTTTCTTTGTTCAGCTTTAGTTTTAGCAAACACCACAAATATGTTTTAAGTAACATCGCTCAAGTTTAAGTAACATCGC
TCAAGTTGATAATCTCTTGATAAGCTCTGTTGTTGACATTTTGCAGTGATACAACAGCTCCACTCATAGATTTAAACTTTTATTTTTACT
TATCTTGGTCATAAGTTGGCATTCTCTCACATTCCACATGATATAGAGGGCTACGTTTTGGAATTTTCCTTTTCTTAATTGCCCAGAGTT
ATCAGACAGATTATAAAAATGGCTTTTAATGGCTTAAACCATTTCTAAACCTCTATCTTAGCAGATCAATGCAGGATCTAATTCTTTTGA
TAAGTTCTAGCTCTAAAAGTGATAGTGGGACTGTATGTTTTCTGATACTGGTGGCTTATGTTATTAAACCTTTTTTAAAAAAGGTTCACT
CTAAAAGCTGAACTACATCCTTAGTTTTCAGTCTACTTGACTCTATCAGGAGCTTTTTAAGGAAAGTAAGTATAACATGCAAAGGAAGCT
TTTTTTGTATTCATTTTGGACTCCTGTCAATAAAAATAGAAGTTTGTTGACTCGTTTTATGTTTCAATGGTGTGTGTCTTTTTACTATCA
GGACATAAATAGGGCAATCCACTTCTTTATTTTTCAACTAAAGATTGAATAGTATTGTACATTACTGCTAAAGTGACTGCTATTTCTGTA
TACTGTAGAAAAACCCAGGAGTGAGAGGGATTTCCCCTCATAGTACAACTGGAAGGATAGTGCTTGTAAAGAGTAGAGATGTGTACATGA
TGAATCATTGAGGGAGGGTGGATATTTTTATTCCTAGATATGGAGGAAACATAAGTCTGTAGTATTATAAAACTGATTGTAATAATTCTT
TCCTATCAAAATCTCCATAGGTCAAAATATTGTTGGAATACTAAAATTTGCAACCTTGTTTACTTTAAAAGGTTGCCACTTTCAGTGCAG
AATACTACCGGCATCTTGTTACTGCAATAGTTGGAAATAAAATGTGAAAATTAGCAAAACCATGAATGGTTTTTTTGGTTCTAAATTTAA
GATGTAATATTTCCTATAAAAGGGTGAAAGCAGTTTCTTTCTCTATAACCTCAATCACCAGTTTAGTGAGAGCCTTTCTTGGCAGGCAGG
AGGCAGTGTCACTGAGGATTTTTTTCATTTACTTCATTGTACAAGTAGGAGGGTGGGTTTAATTTTCAAATCAGGTTCTGCTGTGAAGCA
CCAGTGTCTTGAGGCAGCTACTGATTACCTAAGTGTGGTGGCAGGGGGTAAGCCAGCTGGTGTCAAGTGAAAGGAGGGATTAGAGAAAAC
AGGTGTGGCACGAAGGCAAGGAAACTGAGCAGACAAGACAGAACAATGTGTAGAATGCATATTTCCTAGTTTTCTTGAAAGATTTCAAGA
AAAGTTGTTTTTTTTTTTCTAGTGGCTACTTTGCCTTAAAGAGGCTTTATAAGTTCATTCACACAGCTGGCTTCTCTGGTTTTAAGATTC
TGGAGAGGATGATAACCTAGTAACACCACAGTGCTTAAAAAAAAAAAAAAAAAAAAAACTACCATCACCAGAAAATTCCACCAGTTTGTT
TTCCTTTTCTCTTTGTGTGATGTGTATGTACTTCCCAACTAAGTAAAATAAAATTTCCTCTAGTGAGTGCTTTAGGTAACCTCTTTCCAT
ATGGCAGTAGTGAAAGAACTGAGCCTTCAGTTGATAGTTCTTCTCTCTCCAGCAAGTCGCTAAACTCCACATCCCTTCGTTTTTCCTCTG
GAATGAGAATAACAAACTATCCTAGTTTGCATTTAATCTAATGGAAACTTGAGCAAAGTTTCAATTTTCTTCCTATAAAGAAACTGACAT
TTTGTCAACAATTGATGAGCCTATAGATCATACAGTGTATAGGAAGTGAAATTGAAACAGTTAAATTATGTGATATTTTTCTCTAATTGG
TAAAGTACCTATTAAAATACAGCTGTTCATGAGGAGACTTACCACAATTCAAAGTGTAGCAGTTGTGTATTTTAGCATTATAATATTTGA
TTGAGGCCCTGAGGTGTTAATATCTCAATCTCAGAGTTAGATGTTCATGTCCTTTTTGAATTTTTTAAACATTTTTCATAATTTTTTTTT
TAAGTTAGGGAGCACATTGAGTGAAGTTCTCTGTGTAGAACAATACCTTCTGCTCTGCTTCTCCCAGCTTTCACTGAGGGCTGGAAAAGG
ACAGGCCTGTCCAGCTGTACTGTCCCACTGTGTATGGGGAAGCTCAGGCTCTGGTGGAAGCAGGGGGCGTGGATGTCAAACAACTGATGT
GGAAACAGGGAGGGAGAGATATAATGAGGCTCTCTAGGCATGTTATTTTTGACCACAAGTTTTGTTCAGTTTGCTTCAGCCAATCCAAAC
CATATACTAGAGTGTTCTGTAGTCACAATTCTTATTTCAAATGTAATTCAGCACCTTACATAATTTTTGAGAGGTTGTCATTCATCACAT
ATTTACTGAGTTTCTATGTGCCAGGCTCTGTGACTGGATACTGGAGCTATCAAAATGAAAAAAATAGTGTTAAGAACTCACTCGCTGGTG
TTAGAGCAGGTAGATGAGTGGCAATCCATTTAAATCCATTTGCCTTGGCTATTATTTGGAATGCCTTTTTTTTTTTTTAGTCTATCTACT
GTAGGCAGAAGAATTATTTCTTTAGGGGCTAGCTGTTTATTTTGCTGGCCTTTTTTTCTCTCTTTCTCTTTTTCTTCTTAAGACGGAGTC
TCGCTCTGTCCTCCAGGCTGGAGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCAGCTTCAAGCGATTCTTCTGCCT
CAGCCTCCTGAGTAGCTGGGACTGCAGGTGCATGCCACCACACCCAGCTAATTTTTTAATTTTTAGTAGAGATGGGATTTTGCCACGTTG
TCCAGCCTGGTCTCGAACTCCTGGCCTCAAGTGATCAGCCCTCCTCAGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACTGCGCCC
AGCCTGTTGGGTTTTTTTGGAAAAAAAACAAAAACAACAAATCATCATCCTTTCCTTTAAAATGTTTTTTTTTTTTTAAGAAACAATTTT
CCCACAAACGGTCTGATTTAACTCCATGAAATCCTCTATTTAGACTGCCTTAAAGTGAAATAACTGTTGGTGAACCATAACATTTTGCCA
GCTGTGTAGTGATTAGTCCAAATATGTCTCAAGAAGTTAGCACCAAGCATTCTCATCCATTTAAACTTGATGCTAGGGCTATTTTGCAAA
ACTTAAAAAGATGCGATCTTGTACATATTTCTGTAACCTGAGCTGAAAACCCAAATAACAATCATTGACATACTTTAGGGCTATTGTTTC
AGGTGGGGGTGTATACATCCCAGGGGCGTGGAGATGATCAATCCATTGAGGAAGTATTAAGATGATTATTTGTATTTAATCTCATCCTTT
TAAATTTCTATTTTTGTGTGTTTTATAATGTACATAATATATTGTACAATTGTACACTTCTATTATTTATAAATAAACATTTATTGGTGC
ATTAAGTAGAGCTGAAGTTTCCTGCACCAGGCAAGCCTGGAAATTATCAGTATACTGTGTTTCTGAGATCAGACTCCTATATGGGTTTGG
ATCAGATTAAACCATTGAAGGAAAAACAAGAATGGTGGTGGCTTTACATTGCAGATAGGAAGGAGCAGACATTAATATCCATGCCATATC
ATGTGTGTACGCTGAAAGATACAGAGGAGGAGTGGCAAGAATTACAACAAAGCATACAGCGAAAAGAGAGAGCTCTATTGGAAACCAAAT
CAAAAATAACACATCCTGTGTATAGCCTTTACTTTCCTGAGGAAGCTGCAGTAAAGGAAGATGAAGAAGAAGTTTCAGATAAGGGCAGTG
ATTCTGAAGAAGAAGAAACCAATAGAGATTCCCAAAGTGAGAAAGATGATGGTAGTGACAGAGACTCTGATAGAGAGCAAGATGAAAAAC
AAAACAAAGATGATGAAGCAAAAAAAAAAGAAACCTTTAAAAAAAAAACCTACACCTGTGCTATTACCACAGTCAAAGCAACAGAAACAA

>18325_18325_1_COL3A1-SEC63_COL3A1_chr2_189877472_ENST00000304636_SEC63_chr6_108214782_ENST00000369002_length(amino acids)=1466AA_BP=
MMSFVQKGSWLLLALLHPTIILAQQEAVEGGCSHLGQSYADRDVWKPEPCQICVCDSGSVLCDDIICDDQELDCPNPEIPFGECCAVCPQ
PPTAPTRPPNGQGPQGPKGDPGPPGIPGRNGDPGIPGQPGSPGSPGPPGICESCPTGPQNYSPQYDSYDVKSGVAVGGLAGYPGPAGPPG
PPGPPGTSGHPGSPGSPGYQGPPGEPGQAGPSGPPGPPGAIGPSGPAGKDGESGRPGRPGERGLPGPPGIKGPAGIPGFPGMKGHRGFDG
RNGEKGETGAPGLKGENGLPGENGAPGPMGPRGAPGERGRPGLPGAAGARGNDGARGSDGQPGPPGPPGTAGFPGSPGAKGEVGPAGSPG
SNGAPGQRGEPGPQGHAGAQGPPGPPGINGSPGGKGEMGPAGIPGAPGLMGARGPPGPAGANGAPGLRGGAGEPGKNGAKGEPGPRGERG
EAGIPGVPGAKGEDGKDGSPGEPGANGLPGAAGERGAPGFRGPAGPNGIPGEKGPAGERGAPGPAGPRGAAGEPGRDGVPGGPGMRGMPG
SPGGPGSDGKPGPPGSQGESGRPGPPGPSGPRGQPGVMGFPGPKGNDGAPGKNGERGGPGGPGPQGPPGKNGETGPQGPPGPTGPGGDKG
DTGPPGPQGLQGLPGTGGPPGENGKPGEPGPKGDAGAPGAPGGKGDAGAPGERGPPGLAGAPGLRGGAGPPGPEGGKGAAGPPGPPGAAG
TPGLQGMPGERGGLGSPGPKGDKGEPGGPGADGVPGKDGPRGPTGPIGPPGPAGQPGDKGEGGAPGLPGIAGPRGSPGERGETGPPGPAG
FPGAPGQNGEPGGKGERGAPGEKGEGGPPGVAGPPGGSGPAGPPGPQGVKGERGSPGGPGAAGFPGARGLPGPPGSNGNPGPPGPSGSPG
KDGPPGPAGNTGAPGSPGVSGPKGDAGQPGEKGSPGAQGPPGAPGPLGIAGITGARGLAGPPGMPGPRGSPGPQGVKGESGKPGANGLSG
ERGPPGPQGLPGLAGTAGEPGRDGNPGSDGLPGRDGSPGGKGDRGENGSPGAPGAPGHPGPPGPVGPAGKSGDRGESGPAGPAGAPGPAG
SRGAPGPQGPRGDKGETGERGAAGIKGHRGFPGNPGAPGSPGPAGQQGAIGSPGPAGPRGPVGPSGPPGKDGTSGHPGPIGPPGPRGNRG
ERGSEGSPGHPGQPGPPGPPGAPGPCCGGVGAAAIAGIGGEKAGGFAPYYGDEPMDFKINTDEIMTSLKSVNGQIESLISPDGSRKNPAR
NCRDLKFCHPELKSGEYWVDPNQGCKLDAIKVFCNMETGETCISANPLNVPRKHWWTDSSAEKKHVWFGESMDGGFQFSYGNPELPEDVL
DVHLAFLRLLSSRASQNITYHCKNSIAYMDQASGNVKKALKLMGSNEGEFKAEGNSKFTYTVLEDGCTKHTGEWSKTVFEYRTRKAVRLP

--------------------------------------------------------------
>18325_18325_2_COL3A1-SEC63_COL3A1_chr2_189877472_ENST00000317840_SEC63_chr6_108214782_ENST00000369002_length(transcript)=9235nt_BP=4581nt
GGCTGAGTTTTATGACGGGCCCGGTGCTGAAGGGCAGGGAACAACTTGATGGTGCTACTTTGAACTGCTTTTCTTTTCTCCTTTTTGCAC
AAAGAGTCTCATGTCTGATATTTAGACATGATGAGCTTTGTGCAAAAGGGGAGCTGGCTACTTCTCGCTCTGCTTCATCCCACTATTATT
TTGGCACAACAGGAAGCTGTTGAAGGAGGATGTTCCCATCTTGGTCAGTCCTATGCGGATAGAGATGTCTGGAAGCCAGAACCATGCCAA
ATATGTGTCTGTGACTCAGGATCCGTTCTCTGCGATGACATAATATGTGACGATCAAGAATTAGACTGCCCCAACCCAGAAATTCCATTT
GGAGAATGTTGTGCAGTTTGCCCACAGCCTCCAACTGCTCCTACTCGCCCTCCTAATGGTCAAGGACCTCAAGGCCCCAAGGGAGATCCA
GGCCCTCCTGGTATTCCTGGGAGAAATGGTGACCCTGGTATTCCAGGACAACCAGGGTCCCCTGGTTCTCCTGGCCCCCCTGGAATCTGT
GAATCATGCCCTACTGGTCCTCAGAACTATTCTCCCCAGTATGATTCATATGATGTCAAGTCTGGAGTAGCAGTAGGAGGACTCGCAGGC
TATCCTGGACCAGCTGGCCCCCCAGGCCCTCCCGGTCCCCCTGGTACATCTGGTCATCCTGGTTCCCCTGGATCTCCAGGATACCAAGGA
CCCCCTGGTGAACCTGGGCAAGCTGGTCCTTCAGGCCCTCCAGGACCTCCTGGTGCTATAGGTCCATCTGGTCCTGCTGGAAAAGATGGA
GAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGGTATCAAAGGTCCAGCTGGGATACCTGGATTCCCTGGT
ATGAAAGGACACAGAGGCTTCGATGGACGAAATGGAGAAAAGGGTGAAACAGGTGCTCCTGGATTAAAGGGTGAAAATGGTCTTCCAGGC
GAAAATGGAGCTCCTGGACCCATGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGGTGCTCGGGGT
AATGACGGTGCTCGAGGCAGTGATGGTCAACCAGGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGGT
GAAGTTGGACCTGCAGGGTCTCCTGGTTCAAATGGTGCCCCTGGACAAAGAGGAGAACCTGGACCTCAGGGACACGCTGGTGCTCAAGGT
CCTCCTGGCCCTCCTGGGATTAATGGTAGTCCTGGTGGTAAAGGCGAAATGGGTCCCGCTGGCATTCCTGGAGCTCCTGGACTGATGGGA
GCCCGGGGTCCTCCAGGACCAGCCGGTGCTAATGGTGCTCCTGGACTGCGAGGTGGTGCAGGTGAGCCTGGTAAGAATGGTGCCAAAGGA
GAGCCCGGACCACGTGGTGAACGCGGTGAGGCTGGTATTCCAGGTGTTCCAGGAGCTAAAGGCGAAGATGGCAAGGATGGATCACCTGGA
GAACCTGGTGCAAATGGGCTTCCAGGAGCTGCAGGAGAAAGGGGTGCCCCTGGGTTCCGAGGACCTGCTGGACCAAATGGCATCCCAGGA
GAAAAGGGTCCTGCTGGAGAGCGTGGTGCTCCAGGCCCTGCAGGGCCCAGAGGAGCTGCTGGAGAACCTGGCAGAGATGGCGTCCCTGGA
GGTCCAGGAATGAGGGGCATGCCCGGAAGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCCGGAAGTCAAGGAGAAAGTGGT
CGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGATGGTGCTCCTGGT
AAGAATGGAGAACGAGGTGGCCCTGGAGGACCTGGCCCTCAGGGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGG
CCTACTGGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTACAAGGCTTGCCTGGTACAGGTGGTCCTCCAGGA
GAAAATGGAAAACCTGGGGAACCAGGTCCAAAGGGTGATGCCGGTGCACCTGGAGCTCCAGGAGGCAAGGGTGATGCTGGTGCCCCTGGT
GAACGTGGACCTCCTGGATTGGCAGGGGCCCCAGGACTTAGAGGTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAGGGTGCTGCTGGT
CCTCCTGGGCCACCTGGTGCTGCTGGTACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGT
GACAAGGGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGGGGTCCTACTGGTCCTATTGGTCCTCCTGGC
CCAGCTGGCCAGCCTGGAGATAAGGGTGAAGGTGGTGCCCCCGGACTTCCAGGTATAGCTGGACCTCGTGGTAGCCCTGGTGAGAGAGGT
GAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCTGGACAGAATGGTGAACCTGGTGGTAAAGGAGAAAGAGGGGCTCCGGGT
GAGAAAGGTGAAGGAGGCCCTCCTGGACTCTTTGGACCTCCTGGCAAAGATGGAACCAGTGGACATCCAGGTCCCATTGGACCACCAGGG
CCTCGAGGTAACAGAGGTGAAAGAGGATCTGAGGGCTCCCCAGGCCACCCAGGGCAACCAGGCCCTCCTGGACCTCCTGGTGCCCCTGGT
CCTTGCTGTGGTGGTGTTGGAGCCGCTGCCATTGCTGGGATTGGAGGTGAAAAAGCTGGCGGTTTTGCCCCGTATTATGGAGATGAACCA
ATGGATTTCAAAATCAACACCGATGAGATTATGACTTCACTCAAGTCTGTTAATGGACAAATAGAAAGCCTCATTAGTCCTGATGGTTCT
CGTAAAAACCCCGCTAGAAACTGCAGAGACCTGAAATTCTGCCATCCTGAACTCAAGAGTGGAGAATACTGGGTTGACCCTAACCAAGGA
TGCAAATTGGATGCTATCAAGGTATTCTGTAATATGGAAACTGGGGAAACATGCATAAGTGCCAATCCTTTGAATGTTCCACGGAAACAC
TGGTGGACAGATTCTAGTGCTGAGAAGAAACACGTTTGGTTTGGAGAGTCCATGGATGGTGGTTTTCAGTTTAGCTACGGCAATCCTGAA
CTTCCTGAAGATGTCCTTGATGTGCATCTGGCATTCCTTCGACTTCTCTCCAGCCGAGCTTCCCAGAACATCACATATCACTGCAAAAAT
AGCATTGCATACATGGATCAGGCCAGTGGAAATGTAAAGAAGGCCCTGAAGCTGATGGGGTCAAATGAAGGTGAATTCAAGGCTGAAGGA
AATAGCAAATTCACCTACACAGTTCTGGAGGATGGTTGCACGAAACACACTGGGGAATGGAGCAAAACAGTCTTTGAATATCGAACACGC
AAGGCTGTGAGACTACCTATTGTAGATATTGCACCCTATGACATTGGTGGTCCTGATCAAGAATTTGGTGTGGACGTTGGCCCTGTTTGC
TTTTTATAAACCAAACTCTATCTGAAATCCCAACAAAAAAAATTTAACTCCATATGTGTTCCTCTTGTTCTAATCTTGTCAACCAGTGCA
AGTGACCGACAAAATTCCAGTTATTTATTTCCAAAATGTTTGGAAACAGTATAATTTGACAAAGAAAAATGATACTTCTCTTTTTTTGCT
GTTCCACCAAATACAATTCAAATGCTTTTTGTTTTATTTTTTTACCAATTCCAATTTCAAAATGTCTCAATGGTGCTATAATAAATAAAC
TTCAACACTCTTTATGATAACAACACTGTGTTATATTCTTTGAATCCTAGCCCATCTGCAGAGCAATGACTGTGCTCACCAGTAAAAGAT
AACCTTTCTTTCTGAAATAGTCAAATACGAAATTAGAAAAGCCCTCCCTATTTTAACTACCTCAACTGGTCAGAAACACAGATTGTATTC
TATGAGTCCCAGAAGATGAAAAAAATTTTATACGTTGATAAAACTTATAAATTTCATTGATTAATCTCCTGGAAGATTGGTTTAAAAAGA
AAAGTGTAATGCAAGAATTTAAAGAAATATTTTTAAAGCCACAATTATTTTAATATTGGATATCAACTGCTTGTAAAGGTGCTCCTCTTT
TTTCTTGTCATTGCTGGTCAAGATTACTAATATTTGGGAAGGCTTTAAAGACGCATGTTATGGTGCTAATGTACTTTCACTTTTAAACTC
TAGATCAGAATTGTTGACTTGCATTCAGAACATAAATGCACAAAATCTGTACATGTCTCCCATCAGAAAGATTCATTGGCATGCCACAGG
GGATTCTCCTCCTTCATCCTGTAAAGGTCAACAATAAAAACCAAATTATGGGGCTGCTTTTGTCACACTAGCATAGAGAATGTGTTGAAA
TTTAACTTTGTAAGCTTGTATGTGGTTGTTGATCTTTTTTTTCCTTACAGACACCCATAATAAAATATCATATTAAAATTCTTGGAAGTT
CATGAGGCTAAGCCTGTGCCAGAAAATCACCCACAGTGGGATACAGCAATAGAGGGGGATGAAGACCAGGAGGACAGTGAGGGCTTTGAA
GATAGCTTTGAGGAAGAAGAGGAGGAAGAAGAAGATGATGACTAAGCAGTACTCTGAATGGACCACAGTGTTTGCACATATTTGCAATTT
TTTGCTGTTTTGGAAGTGTATCATAAACCAGAAACAGTACAGAACTGATGTTGAGGGAGGTGTAGTTTTTTTACTCTTGAAATGGGTGCA
TAATATAACTAGGCAGTGGCGGTGCCTTGGTACAACCTGAAAAATGTTAAGGCTTATTGAAACCTTTCAAGTAGGGGATGGTACATTTAT
TTCATCTGCAAATGATAATAAATCCTTTGTTATTATAACTGTCCAGAAGTGTGGGCTATGTATTATCTGATCAGTCTATGGTCCCAGTAA
AAGTAAAGATGCAGGAAACACAGTCTGTAAATGAGCGACTTTTCTTTGTTCAGCTTTAGTTTTAGCAAACACCACAAATATGTTTTAAGT
AACATCGCTCAAGTTTAAGTAACATCGCTCAAGTTGATAATCTCTTGATAAGCTCTGTTGTTGACATTTTGCAGTGATACAACAGCTCCA
CTCATAGATTTAAACTTTTATTTTTACTTATCTTGGTCATAAGTTGGCATTCTCTCACATTCCACATGATATAGAGGGCTACGTTTTGGA
ATTTTCCTTTTCTTAATTGCCCAGAGTTATCAGACAGATTATAAAAATGGCTTTTAATGGCTTAAACCATTTCTAAACCTCTATCTTAGC
AGATCAATGCAGGATCTAATTCTTTTGATAAGTTCTAGCTCTAAAAGTGATAGTGGGACTGTATGTTTTCTGATACTGGTGGCTTATGTT
ATTAAACCTTTTTTAAAAAAGGTTCACTCTAAAAGCTGAACTACATCCTTAGTTTTCAGTCTACTTGACTCTATCAGGAGCTTTTTAAGG
AAAGTAAGTATAACATGCAAAGGAAGCTTTTTTTGTATTCATTTTGGACTCCTGTCAATAAAAATAGAAGTTTGTTGACTCGTTTTATGT
TTCAATGGTGTGTGTCTTTTTACTATCAGGACATAAATAGGGCAATCCACTTCTTTATTTTTCAACTAAAGATTGAATAGTATTGTACAT
TACTGCTAAAGTGACTGCTATTTCTGTATACTGTAGAAAAACCCAGGAGTGAGAGGGATTTCCCCTCATAGTACAACTGGAAGGATAGTG
CTTGTAAAGAGTAGAGATGTGTACATGATGAATCATTGAGGGAGGGTGGATATTTTTATTCCTAGATATGGAGGAAACATAAGTCTGTAG
TATTATAAAACTGATTGTAATAATTCTTTCCTATCAAAATCTCCATAGGTCAAAATATTGTTGGAATACTAAAATTTGCAACCTTGTTTA
CTTTAAAAGGTTGCCACTTTCAGTGCAGAATACTACCGGCATCTTGTTACTGCAATAGTTGGAAATAAAATGTGAAAATTAGCAAAACCA
TGAATGGTTTTTTTGGTTCTAAATTTAAGATGTAATATTTCCTATAAAAGGGTGAAAGCAGTTTCTTTCTCTATAACCTCAATCACCAGT
TTAGTGAGAGCCTTTCTTGGCAGGCAGGAGGCAGTGTCACTGAGGATTTTTTTCATTTACTTCATTGTACAAGTAGGAGGGTGGGTTTAA
TTTTCAAATCAGGTTCTGCTGTGAAGCACCAGTGTCTTGAGGCAGCTACTGATTACCTAAGTGTGGTGGCAGGGGGTAAGCCAGCTGGTG
TCAAGTGAAAGGAGGGATTAGAGAAAACAGGTGTGGCACGAAGGCAAGGAAACTGAGCAGACAAGACAGAACAATGTGTAGAATGCATAT
TTCCTAGTTTTCTTGAAAGATTTCAAGAAAAGTTGTTTTTTTTTTTCTAGTGGCTACTTTGCCTTAAAGAGGCTTTATAAGTTCATTCAC
ACAGCTGGCTTCTCTGGTTTTAAGATTCTGGAGAGGATGATAACCTAGTAACACCACAGTGCTTAAAAAAAAAAAAAAAAAAAAAACTAC
CATCACCAGAAAATTCCACCAGTTTGTTTTCCTTTTCTCTTTGTGTGATGTGTATGTACTTCCCAACTAAGTAAAATAAAATTTCCTCTA
GTGAGTGCTTTAGGTAACCTCTTTCCATATGGCAGTAGTGAAAGAACTGAGCCTTCAGTTGATAGTTCTTCTCTCTCCAGCAAGTCGCTA
AACTCCACATCCCTTCGTTTTTCCTCTGGAATGAGAATAACAAACTATCCTAGTTTGCATTTAATCTAATGGAAACTTGAGCAAAGTTTC
AATTTTCTTCCTATAAAGAAACTGACATTTTGTCAACAATTGATGAGCCTATAGATCATACAGTGTATAGGAAGTGAAATTGAAACAGTT
AAATTATGTGATATTTTTCTCTAATTGGTAAAGTACCTATTAAAATACAGCTGTTCATGAGGAGACTTACCACAATTCAAAGTGTAGCAG
TTGTGTATTTTAGCATTATAATATTTGATTGAGGCCCTGAGGTGTTAATATCTCAATCTCAGAGTTAGATGTTCATGTCCTTTTTGAATT
TTTTAAACATTTTTCATAATTTTTTTTTTAAGTTAGGGAGCACATTGAGTGAAGTTCTCTGTGTAGAACAATACCTTCTGCTCTGCTTCT
CCCAGCTTTCACTGAGGGCTGGAAAAGGACAGGCCTGTCCAGCTGTACTGTCCCACTGTGTATGGGGAAGCTCAGGCTCTGGTGGAAGCA
GGGGGCGTGGATGTCAAACAACTGATGTGGAAACAGGGAGGGAGAGATATAATGAGGCTCTCTAGGCATGTTATTTTTGACCACAAGTTT
TGTTCAGTTTGCTTCAGCCAATCCAAACCATATACTAGAGTGTTCTGTAGTCACAATTCTTATTTCAAATGTAATTCAGCACCTTACATA
ATTTTTGAGAGGTTGTCATTCATCACATATTTACTGAGTTTCTATGTGCCAGGCTCTGTGACTGGATACTGGAGCTATCAAAATGAAAAA
AATAGTGTTAAGAACTCACTCGCTGGTGTTAGAGCAGGTAGATGAGTGGCAATCCATTTAAATCCATTTGCCTTGGCTATTATTTGGAAT
GCCTTTTTTTTTTTTTAGTCTATCTACTGTAGGCAGAAGAATTATTTCTTTAGGGGCTAGCTGTTTATTTTGCTGGCCTTTTTTTCTCTC
TTTCTCTTTTTCTTCTTAAGACGGAGTCTCGCTCTGTCCTCCAGGCTGGAGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGC
CTCCCAGCTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGTGCATGCCACCACACCCAGCTAATTTTTTAATTT
TTAGTAGAGATGGGATTTTGCCACGTTGTCCAGCCTGGTCTCGAACTCCTGGCCTCAAGTGATCAGCCCTCCTCAGCCTCCCAAAGTGCT
GGCATTACAGGCATGAGCCACTGCGCCCAGCCTGTTGGGTTTTTTTGGAAAAAAAACAAAAACAACAAATCATCATCCTTTCCTTTAAAA
TGTTTTTTTTTTTTTAAGAAACAATTTTCCCACAAACGGTCTGATTTAACTCCATGAAATCCTCTATTTAGACTGCCTTAAAGTGAAATA
ACTGTTGGTGAACCATAACATTTTGCCAGCTGTGTAGTGATTAGTCCAAATATGTCTCAAGAAGTTAGCACCAAGCATTCTCATCCATTT
AAACTTGATGCTAGGGCTATTTTGCAAAACTTAAAAAGATGCGATCTTGTACATATTTCTGTAACCTGAGCTGAAAACCCAAATAACAAT
CATTGACATACTTTAGGGCTATTGTTTCAGGTGGGGGTGTATACATCCCAGGGGCGTGGAGATGATCAATCCATTGAGGAAGTATTAAGA
TGATTATTTGTATTTAATCTCATCCTTTTAAATTTCTATTTTTGTGTGTTTTATAATGTACATAATATATTGTACAATTGTACACTTCTA
TTATTTATAAATAAACATTTATTGGTGCATTAAGTAGAGCTGAAGTTTCCTGCACCAGGCAAGCCTGGAAATTATCAGTATACTGTGTTT
CTGAGATCAGACTCCTATATGGGTTTGGATCAGATTAAACCATTGAAGGAAAAACAAGAATGGTGGTGGCTTTACATTGCAGATAGGAAG
GAGCAGACATTAATATCCATGCCATATCATGTGTGTACGCTGAAAGATACAGAGGAGGAGTGGCAAGAATTACAACAAAGCATACAGCGA
AAAGAGAGAGCTCTATTGGAAACCAAATCAAAAATAACACATCCTGTGTATAGCCTTTACTTTCCTGAGGAAGCTGCAGTAAAGGAAGAT
GAAGAAGAAGTTTCAGATAAGGGCAGTGATTCTGAAGAAGAAGAAACCAATAGAGATTCCCAAAGTGAGAAAGATGATGGTAGTGACAGA
GACTCTGATAGAGAGCAAGATGAAAAACAAAACAAAGATGATGAAGCAAAAAAAAAAGAAACCTTTAAAAAAAAAACCTACACCTGTGCT

>18325_18325_2_COL3A1-SEC63_COL3A1_chr2_189877472_ENST00000317840_SEC63_chr6_108214782_ENST00000369002_length(amino acids)=1163AA_BP=
MMSFVQKGSWLLLALLHPTIILAQQEAVEGGCSHLGQSYADRDVWKPEPCQICVCDSGSVLCDDIICDDQELDCPNPEIPFGECCAVCPQ
PPTAPTRPPNGQGPQGPKGDPGPPGIPGRNGDPGIPGQPGSPGSPGPPGICESCPTGPQNYSPQYDSYDVKSGVAVGGLAGYPGPAGPPG
PPGPPGTSGHPGSPGSPGYQGPPGEPGQAGPSGPPGPPGAIGPSGPAGKDGESGRPGRPGERGLPGPPGIKGPAGIPGFPGMKGHRGFDG
RNGEKGETGAPGLKGENGLPGENGAPGPMGPRGAPGERGRPGLPGAAGARGNDGARGSDGQPGPPGPPGTAGFPGSPGAKGEVGPAGSPG
SNGAPGQRGEPGPQGHAGAQGPPGPPGINGSPGGKGEMGPAGIPGAPGLMGARGPPGPAGANGAPGLRGGAGEPGKNGAKGEPGPRGERG
EAGIPGVPGAKGEDGKDGSPGEPGANGLPGAAGERGAPGFRGPAGPNGIPGEKGPAGERGAPGPAGPRGAAGEPGRDGVPGGPGMRGMPG
SPGGPGSDGKPGPPGSQGESGRPGPPGPSGPRGQPGVMGFPGPKGNDGAPGKNGERGGPGGPGPQGPPGKNGETGPQGPPGPTGPGGDKG
DTGPPGPQGLQGLPGTGGPPGENGKPGEPGPKGDAGAPGAPGGKGDAGAPGERGPPGLAGAPGLRGGAGPPGPEGGKGAAGPPGPPGAAG
TPGLQGMPGERGGLGSPGPKGDKGEPGGPGADGVPGKDGPRGPTGPIGPPGPAGQPGDKGEGGAPGLPGIAGPRGSPGERGETGPPGPAG
FPGAPGQNGEPGGKGERGAPGEKGEGGPPGLFGPPGKDGTSGHPGPIGPPGPRGNRGERGSEGSPGHPGQPGPPGPPGAPGPCCGGVGAA
AIAGIGGEKAGGFAPYYGDEPMDFKINTDEIMTSLKSVNGQIESLISPDGSRKNPARNCRDLKFCHPELKSGEYWVDPNQGCKLDAIKVF
CNMETGETCISANPLNVPRKHWWTDSSAEKKHVWFGESMDGGFQFSYGNPELPEDVLDVHLAFLRLLSSRASQNITYHCKNSIAYMDQAS

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

Top

Fusion Gene PPI Analysis for COL3A1-SEC63


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

ChiPPI page.


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


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


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


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


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Related Drugs for COL3A1-SEC63


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCOL3A1P02461DB00048Collagenase clostridium histolyticumBinderBiotechApproved|Investigational

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Related Diseases for COL3A1-SEC63


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOL3A1C0268338Ehlers-Danlos Syndrome, Type IV43CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneCOL3A1C4707243Familial thoracic aortic aneurysm and aortic dissection10CLINGEN;GENOMICS_ENGLAND
HgeneCOL3A1C0023890Liver Cirrhosis5CTD_human
HgeneCOL3A1C0239946Fibrosis, Liver5CTD_human
HgeneCOL3A1C0023893Liver Cirrhosis, Experimental2CTD_human
HgeneCOL3A1C0162871Aortic Aneurysm, Abdominal2ORPHANET
HgeneCOL3A1C1853365AORTIC ANEURYSM, FAMILIAL ABDOMINAL 12ORPHANET
HgeneCOL3A1C2697932Loeys-Dietz Syndrome2GENOMICS_ENGLAND
HgeneCOL3A1C0003504Aortic Valve Insufficiency1CTD_human
HgeneCOL3A1C0005398Cholestasis, Extrahepatic1CTD_human
HgeneCOL3A1C0015695Fatty Liver1CTD_human
HgeneCOL3A1C0016059Fibrosis1CTD_human
HgeneCOL3A1C0019193Hepatitis, Toxic1CTD_human
HgeneCOL3A1C0020443Hypercholesterolemia1CTD_human
HgeneCOL3A1C0020456Hyperglycemia1CTD_human
HgeneCOL3A1C0020459Hyperinsulinism1CTD_human
HgeneCOL3A1C0020538Hypertensive disease1CTD_human
HgeneCOL3A1C0022548Keloid1CTD_human
HgeneCOL3A1C0023891Liver Cirrhosis, Alcoholic1CTD_human
HgeneCOL3A1C0023895Liver diseases1CTD_human
HgeneCOL3A1C0027719Nephrosclerosis1CTD_human
HgeneCOL3A1C0034069Pulmonary Fibrosis1CTD_human
HgeneCOL3A1C0036341Schizophrenia1CTD_human
HgeneCOL3A1C0038454Cerebrovascular accident1GENOMICS_ENGLAND
HgeneCOL3A1C0041956Ureteral obstruction1CTD_human
HgeneCOL3A1C0086565Liver Dysfunction1CTD_human
HgeneCOL3A1C0149721Left Ventricular Hypertrophy1CTD_human
HgeneCOL3A1C0238288Muscular Dystrophy, Facioscapulohumeral1CTD_human
HgeneCOL3A1C0238590Acrogeria1ORPHANET
HgeneCOL3A1C0338586Vertebral Artery Dissection1GENOMICS_ENGLAND
HgeneCOL3A1C0406584Acrogeria, gottron type1ORPHANET
HgeneCOL3A1C0553692Brain hemorrhage1GENOMICS_ENGLAND
HgeneCOL3A1C0553980Endomyocardial Fibrosis1CTD_human
HgeneCOL3A1C0860207Drug-Induced Liver Disease1CTD_human
HgeneCOL3A1C0948008Ischemic stroke1GENOMICS_ENGLAND
HgeneCOL3A1C1257963Endogenous Hyperinsulinism1CTD_human
HgeneCOL3A1C1257964Exogenous Hyperinsulinism1CTD_human
HgeneCOL3A1C1257965Compensatory Hyperinsulinemia1CTD_human
HgeneCOL3A1C1262760Hepatitis, Drug-Induced1CTD_human
HgeneCOL3A1C1623038Cirrhosis1CTD_human
HgeneCOL3A1C1855520Hyperglycemia, Postprandial1CTD_human
HgeneCOL3A1C1862932ANEURYSM, INTRACRANIAL BERRY, 1 (disorder)1ORPHANET
HgeneCOL3A1C2711227Steatohepatitis1CTD_human
HgeneCOL3A1C3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneCOL3A1C4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneCOL3A1C4279912Chemically-Induced Liver Toxicity1CTD_human
HgeneCOL3A1C4721507Alveolitis, Fibrosing1CTD_human
TgeneC0158683Polycystic liver disease2CTD_human;ORPHANET
TgeneC0022680Polycystic Kidney Diseases1CTD_human
TgeneC1567435Polycystic Kidney - body part1CTD_human
TgeneC4310769POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS1GENOMICS_ENGLAND