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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-CTSB (FusionGDB2 ID:HG1281TG1508)

Fusion Gene Summary for COL3A1-CTSB

check button Fusion gene summary
Fusion gene informationFusion gene name: COL3A1-CTSB
Fusion gene ID: hg1281tg1508
HgeneTgene
Gene symbol

COL3A1

CTSB

Gene ID

1281

1508

Gene namecollagen type III alpha 1 chaincathepsin B
SynonymsEDS4A|EDSVASC|PMGEDSVAPPS|CPSB|RECEUP
Cytomap('COL3A1')('CTSB')

2q32.2

8p23.1

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 1cathepsin BAPP secretaseamyloid precursor protein secretasecathepsin B1cysteine proteaseepididymis secretory sperm binding protein
Modification date2020031320200313
UniProtAcc

P02461

.
Ensembl transtripts involved in fusion geneENST00000304636, ENST00000317840, 
Fusion gene scores* DoF score46 X 40 X 15=2760013 X 14 X 6=1092
# samples 5614
** MAII scorelog2(56/27600*10)=-5.62309762960793
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(14/1092*10)=-2.96347412397489
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointCOL3A1(189857646)-CTSB(11708466), # samples:1
Anticipated loss of major functional domain due to fusion event.COL3A1-CTSB 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-CTSB 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.
COL3A1-CTSB seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
COL3A1-CTSB seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted 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

TgeneCTSB

GO:0006508

proteolysis

7890620|8811434

TgeneCTSB

GO:0030574

collagen catabolic process

22952693

TgeneCTSB

GO:0051603

proteolysis involved in cellular protein catabolic process

22952693


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

check button Fusion gene information
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-BR-8078-01ACOL3A1chr2

189857646

+CTSBchr8

11708466

-


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Fusion Gene ORF analysis for COL3A1-CTSB

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-5UTRENST00000304636ENST00000525076COL3A1chr2

189857646

+CTSBchr8

11708466

-
5CDS-5UTRENST00000317840ENST00000525076COL3A1chr2

189857646

+CTSBchr8

11708466

-
Frame-shiftENST00000304636ENST00000345125COL3A1chr2

189857646

+CTSBchr8

11708466

-
Frame-shiftENST00000304636ENST00000353047COL3A1chr2

189857646

+CTSBchr8

11708466

-
Frame-shiftENST00000304636ENST00000434271COL3A1chr2

189857646

+CTSBchr8

11708466

-
Frame-shiftENST00000304636ENST00000453527COL3A1chr2

189857646

+CTSBchr8

11708466

-
Frame-shiftENST00000304636ENST00000530640COL3A1chr2

189857646

+CTSBchr8

11708466

-
Frame-shiftENST00000304636ENST00000531089COL3A1chr2

189857646

+CTSBchr8

11708466

-
Frame-shiftENST00000304636ENST00000533455COL3A1chr2

189857646

+CTSBchr8

11708466

-
Frame-shiftENST00000304636ENST00000534510COL3A1chr2

189857646

+CTSBchr8

11708466

-
Frame-shiftENST00000317840ENST00000345125COL3A1chr2

189857646

+CTSBchr8

11708466

-
Frame-shiftENST00000317840ENST00000353047COL3A1chr2

189857646

+CTSBchr8

11708466

-
Frame-shiftENST00000317840ENST00000434271COL3A1chr2

189857646

+CTSBchr8

11708466

-
Frame-shiftENST00000317840ENST00000453527COL3A1chr2

189857646

+CTSBchr8

11708466

-
Frame-shiftENST00000317840ENST00000530640COL3A1chr2

189857646

+CTSBchr8

11708466

-
Frame-shiftENST00000317840ENST00000531089COL3A1chr2

189857646

+CTSBchr8

11708466

-
Frame-shiftENST00000317840ENST00000533455COL3A1chr2

189857646

+CTSBchr8

11708466

-
Frame-shiftENST00000317840ENST00000534510COL3A1chr2

189857646

+CTSBchr8

11708466

-
In-frameENST00000304636ENST00000415599COL3A1chr2

189857646

+CTSBchr8

11708466

-
In-frameENST00000317840ENST00000415599COL3A1chr2

189857646

+CTSBchr8

11708466

-

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)
ENST00000304636COL3A1chr2189857646+ENST00000415599CTSBchr811708466-265111861701195341
ENST00000317840COL3A1chr2189857646+ENST00000415599CTSBchr811708466-259811331171142341

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
ENST00000304636ENST00000415599COL3A1chr2189857646+CTSBchr811708466-0.0144623630.9855377
ENST00000317840ENST00000415599COL3A1chr2189857646+CTSBchr811708466-0.0144375290.98556244

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Fusion Genomic Features for COL3A1-CTSB


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-CTSB


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/chr2:189857646/chr8:11708466)
- 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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCOL3A1chr2:189857646chr8:11708466ENST00000304636+1511232_146601467.0DomainFibrillar collagen NC1
HgeneCOL3A1chr2:189857646chr8:11708466ENST00000304636+15130_8901467.0DomainVWFC
HgeneCOL3A1chr2:189857646chr8:11708466ENST00000304636+1511197_120501467.0RegionNote=Nonhelical region (C-terminal)
HgeneCOL3A1chr2:189857646chr8:11708466ENST00000304636+151149_16701467.0RegionNote=Nonhelical region (N-terminal)
HgeneCOL3A1chr2:189857646chr8:11708466ENST00000304636+151168_119601467.0RegionNote=Triple-helical region


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Fusion Gene Sequence for COL3A1-CTSB


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.
>18298_18298_1_COL3A1-CTSB_COL3A1_chr2_189857646_ENST00000304636_CTSB_chr8_11708466_ENST00000415599_length(transcript)=2651nt_BP=1186nt
GTGAGGGAAGCCAAACTTTTTCCTATTTAAGGCCAAAGCAAAGGAATCTCAGTGGCTGAGTTTTATGACGGGCCCGGTGCTGAAGGGCAG
GGAACAACTTGATGGTGCTACTTTGAACTGCTTTTCTTTTCTCCTTTTTGCACAAAGAGTCTCATGTCTGATATTTAGACATGATGAGCT
TTGTGCAAAAGGGGAGCTGGCTACTTCTCGCTCTGCTTCATCCCACTATTATTTTGGCACAACAGGAAGCTGTTGAAGGAGGATGTTCCC
ATCTTGGTCAGTCCTATGCGGATAGAGATGTCTGGAAGCCAGAACCATGCCAAATATGTGTCTGTGACTCAGGATCCGTTCTCTGCGATG
ACATAATATGTGACGATCAAGAATTAGACTGCCCCAACCCAGAAATTCCATTTGGAGAATGTTGTGCAGTTTGCCCACAGCCTCCAACTG
CTCCTACTCGCCCTCCTAATGGTCAAGGACCTCAAGGCCCCAAGGGAGATCCAGGCCCTCCTGGTATTCCTGGGAGAAATGGTGACCCTG
GTATTCCAGGACAACCAGGGTCCCCTGGTTCTCCTGGCCCCCCTGGAATCTGTGAATCATGCCCTACTGGTCCTCAGAACTATTCTCCCC
AGTATGATTCATATGATGTCAAGTCTGGAGTAGCAGTAGGAGGACTCGCAGGCTATCCTGGACCAGCTGGCCCCCCAGGCCCTCCCGGTC
CCCCTGGTACATCTGGTCATCCTGGTTCCCCTGGATCTCCAGGATACCAAGGACCCCCTGGTGAACCTGGGCAAGCTGGTCCTTCAGGCC
CTCCAGGACCTCCTGGTGCTATAGGTCCATCTGGTCCTGCTGGAAAAGATGGAGAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGAT
TGCCTGGACCTCCAGGTATCAAAGGTCCAGCTGGGATACCTGGATTCCCTGGTATGAAAGGACACAGAGGCTTCGATGGACGAAATGGAG
AAAAGGGTGAAACAGGTGCTCCTGGATTAAAGGGTGAAAATGGTCTTCCAGGCGAAAATGGAGCTCCTGGACCCATGGGTCCAAGAGGGG
CTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGGTGCTCGGGGTAATGACGGTGCTCGAGGCAGTGATGGTCAACCACTGG
ATCCCCTGGTGCTAAGGCTTCTTTAAAATACTCAGAGGACAGGATCACTGTGGAATCGAATCAGAAGTGGTGGCTGGAATTCCACGCACC
GATCAGTACTGGGAAAAGATCTAATCTGCCGTGGGCCTGTCGTGCCAGTCCTGGGGGCGAGATCGGGGTAGAAATGCATTTTATTCTTTA
AGTTCACGTAAGATACAAGTTTCAGACAGGGTCTGAAGGACTGGATTGGCCAAACATCAGACCTGTCTTCCAAGGAGACCAAGTCCTGGC
TACATCCCAGCCTGTGGTTACAGTGCAGACAGGCCATGTGAGCCACCGCTGCCAGCACAGAGCGTCCTTCCCCCTGTAGACTAGTGCCGT
AGGGAGTACCTGCTGCCCCAGCTGACTGTGGCCCCCTCCGTGATCCATCCATCTCCAGGGAGCAAGACAGAGACGCAGGAATGGAAAGCG
GAGTTCCTAACAGGATGAAAGTTCCCCCATCAGTTCCCCCAGTACCTCCAAGCAAGTAGCTTTCCACATTTGTCACAGAAATCAGAGGAG
AGACGGTGTTGGGAGCCCTTTGGAGAACGCCAGTCTCCCAGGCCCCCTGCATCTATCGAGTTTGCAATGTCACAACCTCTCTGATCTTGT
GCTCAGCATGATTCTTTAATAGAAGTTTTATTTTTTCGTGCACTCTGCTAATCATGTGGGTGAGCCAGTGGAACAGCGGGAGACCTGTGC
TAGTTTTACAGATTGCCTCCTTATGACGCGGCTCAAAAGGAAACCAAGTGGTCAGGAGTTGTTTCTGACCCACTGATCTCTACTACCACA
AGGAAAATAGTTTAGGAGAAACCAGCTTTTACTGTTTTTGAAAAATTACAGCTTCACCCTGTCAAGTTAACAAGGAATGCCTGTGCCAAT
AAAAGTTTTCTCCGAGTGTACCAACACGTCACCGGAGAGATGATGGGTGGCCATGCCATCCGCATCCTGGGCTGGGGAGTGGAGAATGGC
ACACCCTACTGGCTGGTTGCCAACTCCTGGAACACTGACTGGGGTGACAATGGATACAATTCCTACAGCGTCTCCAATAGCGAGAAGGAC
ATCATGGCCGAGATCTACAAAAACGGCCCCGTGGAGGGAGCTTTCTCTGTGTATTCGGACTTCCTGCTCTACAAGTCAGGGTGCAGACCG
TACTCCATCCCTCCCTGTGAGCACCACGTCAACGGCTCCCGGCCCCCATGCACGGGGGAGGGAGATACCCCCAAGTGTAGCAAGATCTGT
GAGCCTGGCTACAGCCCGACCTACAAACAGGACAAGCACTACGCTGTAATGGTGGCTATCCTGCTGAAGCTTGGAACTTCTGGACAAGAA
AAGGCCTGGTTTCTGGTGGCCTCTATGAATCCCATGTAGAGCTGCCTGCAAGCTTCGATGCACGGGAACAATGGCCACAGTGTCCCACCA

>18298_18298_1_COL3A1-CTSB_COL3A1_chr2_189857646_ENST00000304636_CTSB_chr8_11708466_ENST00000415599_length(amino acids)=341AA_BP=
MMSFVQKGSWLLLALLHPTIILAQQEAVEGGCSHLGQSYADRDVWKPEPCQICVCDSGSVLCDDIICDDQELDCPNPEIPFGECCAVCPQ
PPTAPTRPPNGQGPQGPKGDPGPPGIPGRNGDPGIPGQPGSPGSPGPPGICESCPTGPQNYSPQYDSYDVKSGVAVGGLAGYPGPAGPPG
PPGPPGTSGHPGSPGSPGYQGPPGEPGQAGPSGPPGPPGAIGPSGPAGKDGESGRPGRPGERGLPGPPGIKGPAGIPGFPGMKGHRGFDG

--------------------------------------------------------------
>18298_18298_2_COL3A1-CTSB_COL3A1_chr2_189857646_ENST00000317840_CTSB_chr8_11708466_ENST00000415599_length(transcript)=2598nt_BP=1133nt
GGCTGAGTTTTATGACGGGCCCGGTGCTGAAGGGCAGGGAACAACTTGATGGTGCTACTTTGAACTGCTTTTCTTTTCTCCTTTTTGCAC
AAAGAGTCTCATGTCTGATATTTAGACATGATGAGCTTTGTGCAAAAGGGGAGCTGGCTACTTCTCGCTCTGCTTCATCCCACTATTATT
TTGGCACAACAGGAAGCTGTTGAAGGAGGATGTTCCCATCTTGGTCAGTCCTATGCGGATAGAGATGTCTGGAAGCCAGAACCATGCCAA
ATATGTGTCTGTGACTCAGGATCCGTTCTCTGCGATGACATAATATGTGACGATCAAGAATTAGACTGCCCCAACCCAGAAATTCCATTT
GGAGAATGTTGTGCAGTTTGCCCACAGCCTCCAACTGCTCCTACTCGCCCTCCTAATGGTCAAGGACCTCAAGGCCCCAAGGGAGATCCA
GGCCCTCCTGGTATTCCTGGGAGAAATGGTGACCCTGGTATTCCAGGACAACCAGGGTCCCCTGGTTCTCCTGGCCCCCCTGGAATCTGT
GAATCATGCCCTACTGGTCCTCAGAACTATTCTCCCCAGTATGATTCATATGATGTCAAGTCTGGAGTAGCAGTAGGAGGACTCGCAGGC
TATCCTGGACCAGCTGGCCCCCCAGGCCCTCCCGGTCCCCCTGGTACATCTGGTCATCCTGGTTCCCCTGGATCTCCAGGATACCAAGGA
CCCCCTGGTGAACCTGGGCAAGCTGGTCCTTCAGGCCCTCCAGGACCTCCTGGTGCTATAGGTCCATCTGGTCCTGCTGGAAAAGATGGA
GAATCAGGTAGACCCGGACGACCTGGAGAGCGAGGATTGCCTGGACCTCCAGGTATCAAAGGTCCAGCTGGGATACCTGGATTCCCTGGT
ATGAAAGGACACAGAGGCTTCGATGGACGAAATGGAGAAAAGGGTGAAACAGGTGCTCCTGGATTAAAGGGTGAAAATGGTCTTCCAGGC
GAAAATGGAGCTCCTGGACCCATGGGTCCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCAGGTGCTCGGGGT
AATGACGGTGCTCGAGGCAGTGATGGTCAACCACTGGATCCCCTGGTGCTAAGGCTTCTTTAAAATACTCAGAGGACAGGATCACTGTGG
AATCGAATCAGAAGTGGTGGCTGGAATTCCACGCACCGATCAGTACTGGGAAAAGATCTAATCTGCCGTGGGCCTGTCGTGCCAGTCCTG
GGGGCGAGATCGGGGTAGAAATGCATTTTATTCTTTAAGTTCACGTAAGATACAAGTTTCAGACAGGGTCTGAAGGACTGGATTGGCCAA
ACATCAGACCTGTCTTCCAAGGAGACCAAGTCCTGGCTACATCCCAGCCTGTGGTTACAGTGCAGACAGGCCATGTGAGCCACCGCTGCC
AGCACAGAGCGTCCTTCCCCCTGTAGACTAGTGCCGTAGGGAGTACCTGCTGCCCCAGCTGACTGTGGCCCCCTCCGTGATCCATCCATC
TCCAGGGAGCAAGACAGAGACGCAGGAATGGAAAGCGGAGTTCCTAACAGGATGAAAGTTCCCCCATCAGTTCCCCCAGTACCTCCAAGC
AAGTAGCTTTCCACATTTGTCACAGAAATCAGAGGAGAGACGGTGTTGGGAGCCCTTTGGAGAACGCCAGTCTCCCAGGCCCCCTGCATC
TATCGAGTTTGCAATGTCACAACCTCTCTGATCTTGTGCTCAGCATGATTCTTTAATAGAAGTTTTATTTTTTCGTGCACTCTGCTAATC
ATGTGGGTGAGCCAGTGGAACAGCGGGAGACCTGTGCTAGTTTTACAGATTGCCTCCTTATGACGCGGCTCAAAAGGAAACCAAGTGGTC
AGGAGTTGTTTCTGACCCACTGATCTCTACTACCACAAGGAAAATAGTTTAGGAGAAACCAGCTTTTACTGTTTTTGAAAAATTACAGCT
TCACCCTGTCAAGTTAACAAGGAATGCCTGTGCCAATAAAAGTTTTCTCCGAGTGTACCAACACGTCACCGGAGAGATGATGGGTGGCCA
TGCCATCCGCATCCTGGGCTGGGGAGTGGAGAATGGCACACCCTACTGGCTGGTTGCCAACTCCTGGAACACTGACTGGGGTGACAATGG
ATACAATTCCTACAGCGTCTCCAATAGCGAGAAGGACATCATGGCCGAGATCTACAAAAACGGCCCCGTGGAGGGAGCTTTCTCTGTGTA
TTCGGACTTCCTGCTCTACAAGTCAGGGTGCAGACCGTACTCCATCCCTCCCTGTGAGCACCACGTCAACGGCTCCCGGCCCCCATGCAC
GGGGGAGGGAGATACCCCCAAGTGTAGCAAGATCTGTGAGCCTGGCTACAGCCCGACCTACAAACAGGACAAGCACTACGCTGTAATGGT
GGCTATCCTGCTGAAGCTTGGAACTTCTGGACAAGAAAAGGCCTGGTTTCTGGTGGCCTCTATGAATCCCATGTAGAGCTGCCTGCAAGC

>18298_18298_2_COL3A1-CTSB_COL3A1_chr2_189857646_ENST00000317840_CTSB_chr8_11708466_ENST00000415599_length(amino acids)=341AA_BP=
MMSFVQKGSWLLLALLHPTIILAQQEAVEGGCSHLGQSYADRDVWKPEPCQICVCDSGSVLCDDIICDDQELDCPNPEIPFGECCAVCPQ
PPTAPTRPPNGQGPQGPKGDPGPPGIPGRNGDPGIPGQPGSPGSPGPPGICESCPTGPQNYSPQYDSYDVKSGVAVGGLAGYPGPAGPPG
PPGPPGTSGHPGSPGSPGYQGPPGEPGQAGPSGPPGPPGAIGPSGPAGKDGESGRPGRPGERGLPGPPGIKGPAGIPGFPGMKGHRGFDG

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

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Fusion Gene PPI Analysis for COL3A1-CTSB


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-CTSB


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-CTSB


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
TgeneC0027626Neoplasm Invasiveness2CTD_human
TgeneC0007134Renal Cell Carcinoma1CTD_human
TgeneC0017636Glioblastoma1CTD_human
TgeneC0026848Myopathy1CTD_human
TgeneC0027540Necrosis1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0033687Proteinuria1CTD_human
TgeneC0235874Disease Exacerbation1CTD_human
TgeneC0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
TgeneC0334588Giant Cell Glioblastoma1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0406756Keratolytic winter erythema1CTD_human;ORPHANET
TgeneC1266042Chromophobe Renal Cell Carcinoma1CTD_human
TgeneC1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
TgeneC1266044Collecting Duct Carcinoma of the Kidney1CTD_human
TgeneC1306837Papillary Renal Cell Carcinoma1CTD_human
TgeneC1621958Glioblastoma Multiforme1CTD_human