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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:COL5A1-PTGES2 (FusionGDB2 ID:HG1289TG80142)

Fusion Gene Summary for COL5A1-PTGES2

check button Fusion gene summary
Fusion gene informationFusion gene name: COL5A1-PTGES2
Fusion gene ID: hg1289tg80142
HgeneTgene
Gene symbol

COL5A1

PTGES2

Gene ID

1289

80142

Gene namecollagen type V alpha 1 chainprostaglandin E synthase 2
SynonymsEDSC|EDSCL1C9orf15|GBF-1|GBF1|PGES2|mPGES-2
Cytomap('COL5A1')('PTGES2')

9q34.3

9q34.11

Type of geneprotein-codingprotein-coding
Descriptioncollagen alpha-1(V) chaincollagen, type V, alpha 1prostaglandin E synthase 2GATE-binding factor 1gamma-interferon-activated transcriptional element-binding factor 1mPGE synthase-2membrane-associated prostaglandin E synthase 2microsomal prostaglandin E synthase-2prostaglandin-H(2) E-isomerase
Modification date2020031320200313
UniProtAcc

P20908

.
Ensembl transtripts involved in fusion geneENST00000371817, ENST00000464187, 
Fusion gene scores* DoF score11 X 10 X 8=8804 X 3 X 5=60
# samples 126
** MAII scorelog2(12/880*10)=-2.87446911791614
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/60*10)=0
Context

PubMed: COL5A1 [Title/Abstract] AND PTGES2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCOL5A1(137677894)-PTGES2(130887720), # samples:4
Anticipated loss of major functional domain due to fusion event.COL5A1-PTGES2 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.
COL5A1-PTGES2 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.
COL5A1-PTGES2 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.
COL5A1-PTGES2 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
HgeneCOL5A1

GO:1903225

negative regulation of endodermal cell differentiation

23154389


check buttonFusion gene breakpoints across COL5A1 (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 PTGES2 (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
ChimerDB4BLCATCGA-GD-A3OS-01ACOL5A1chr9

137677894

-PTGES2chr9

130887720

-
ChimerDB4BLCATCGA-GD-A3OS-01ACOL5A1chr9

137677894

+PTGES2chr9

130887720

-
ChimerDB4BLCATCGA-GD-A3OSCOL5A1chr9

137677894

+PTGES2chr9

130887720

-


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Fusion Gene ORF analysis for COL5A1-PTGES2

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-5UTRENST00000371817ENST00000277462COL5A1chr9

137677894

+PTGES2chr9

130887720

-
5CDS-5UTRENST00000371817ENST00000483625COL5A1chr9

137677894

+PTGES2chr9

130887720

-
In-frameENST00000371817ENST00000338961COL5A1chr9

137677894

+PTGES2chr9

130887720

-
intron-3CDSENST00000464187ENST00000338961COL5A1chr9

137677894

+PTGES2chr9

130887720

-
intron-5UTRENST00000464187ENST00000277462COL5A1chr9

137677894

+PTGES2chr9

130887720

-
intron-5UTRENST00000464187ENST00000483625COL5A1chr9

137677894

+PTGES2chr9

130887720

-

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)
ENST00000371817COL5A1chr9137677894+ENST00000338961PTGES2chr9130887720-4367306041439141166

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
ENST00000371817ENST00000338961COL5A1chr9137677894+PTGES2chr9130887720-0.0010610570.998939

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Fusion Genomic Features for COL5A1-PTGES2


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 COL5A1-PTGES2


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/chr9:137677894/chr9:130887720)
- 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
COL5A1

P20908

.
FUNCTION: Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin.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
HgeneCOL5A1chr9:137677894chr9:130887720ENST00000371817+316672_2448821839.0DomainNote=Laminin G-like
HgeneCOL5A1chr9:137677894chr9:130887720ENST00000371817+3166231_4438821839.0RegionNote=Nonhelical region
HgeneCOL5A1chr9:137677894chr9:130887720ENST00000371817+3166444_5588821839.0RegionNote=Interrupted collagenous region
TgenePTGES2chr9:137677894chr9:130887720ENST0000033896107263_37793378.0DomainNote=GST C-terminal
TgenePTGES2chr9:137677894chr9:130887720ENST000003389610790_19393378.0DomainGlutaredoxin
TgenePTGES2chr9:137677894chr9:130887720ENST0000033896107164_16593378.0RegionGlutathione binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCOL5A1chr9:137677894chr9:130887720ENST00000371817+31661609_18378821839.0DomainFibrillar collagen NC1
HgeneCOL5A1chr9:137677894chr9:130887720ENST00000371817+31661571_16058821839.0RegionNote=Nonhelical region
HgeneCOL5A1chr9:137677894chr9:130887720ENST00000371817+3166559_15708821839.0RegionNote=Triple-helical region
TgenePTGES2chr9:137677894chr9:130887720ENST00000338961071_5793378.0Topological domainLumenal
TgenePTGES2chr9:137677894chr9:130887720ENST000003389610775_37793378.0Topological domainCytoplasmic
TgenePTGES2chr9:137677894chr9:130887720ENST000003389610758_7493378.0TransmembraneHelical


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Fusion Gene Sequence for COL5A1-PTGES2


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.
>18394_18394_1_COL5A1-PTGES2_COL5A1_chr9_137677894_ENST00000371817_PTGES2_chr9_130887720_ENST00000338961_length(transcript)=4367nt_BP=3060nt
GGAAAAAAGTGCTCCGCGCCGAAGGCGAGGTCCGCACTCTCCGTCCCCGCGGCTGGCGCAGGACCTCACTCGAGCGGAGCGCCCACGGGG
AGCGGGTCGCGGGGCGGCGGCGGCGAGGAGGAGGCGAGAAGGAGTTGGAGGAGGAGGAGGAGGAGGCGAGGGCGAGCTAGCCCAGCGGGG
TCCCGGCCGCCCCGCGGGCCAAAGTCGAGCCCTCCCGCCCGTGGGCGAGCGCGCCAGCCGCCCCTTCCAGAACAGCCGCCGCCACAAAGA
AGAACGGGGGGTGCCGAGGTCCCCATGACCTCCTAAAGTGGTGCGGTCCCTGCTGAGTGCGCTGCCCGGGCCGTGACCCGCGCCCCTGTG
CGTCCCCGCGCGCCTCCGAGCGCCCCTGTGCGCCCCGGCCCGCGCCCCGCCGGCATGGACGTCCATACCCGCTGGAAAGCGCGCAGCGCG
CTCCGCCCGGGCGCCCCGCTGCTGCCCCCGCTGCTGCTGCTGCTGCTGTGGGCGCCGCCTCCGAGCCGCGCAGCTCAGCCAGCAGATCTC
CTGAAGGTTCTAGATTTTCACAACTTGCCTGATGGAATAACAAAGACAACAGGCTTTTGCGCCACGCGGCGATCTTCCAAAGGCCCGGAT
GTCGCTTACAGAGTCACCAAAGACGCGCAGCTCAGCGCACCCACCAAGCAGCTGTACCCTGCGTCTGCATTTCCCGAGGACTTCTCCATC
CTAACAACTGTGAAAGCCAAGAAAGGCAGCCAGGCCTTCCTGGTCTCCATCTACAACGAGCAGGGTATCCAGCAGATTGGGCTGGAGCTG
GGCCGCTCTCCCGTCTTCCTCTACGAGGACCACACGGGGAAGCCTGGCCCGGAAGACTACCCCCTCTTCCGGGGCATCAACCTGTCAGAT
GGCAAGTGGCACAGAATTGCTCTCAGCGTCCACAAGAAAAATGTCACCTTGATCCTCGACTGTAAAAAGAAGACCACCAAATTCCTCGAC
CGCAGCGACCACCCCATGATCGACATCAATGGCATCATCGTGTTTGGCACCCGGATCCTGGATGAGGAGGTGTTTGAGGGTGACATCCAG
CAGCTGCTCTTTGTCTCGGACCACCGGGCAGCTTATGATTACTGTGAGCACTACAGCCCTGACTGTGACACCGCAGTACCTGACACCCCA
CAGTCGCAGGACCCCAATCCAGATGAATATTACACGGAAGGAGACGGCGAGGGTGAGACCTATTACTACGAATACCCCTACTACGAAGAC
CCCGAAGACCTAGGGAAGGAGCCCACCCCCAGCAAGAAGCCCGTGGAAGCTGCCAAAGAAACCACAGAGGTCCCCGAGGAGCTGACCCCG
ACCCCCACGGAAGCTGCTCCCATGCCTGAAACCAGTGAAGGGGCTGGGAAGGAAGAGGACGTCGGCATCGGGGACTATGACTACGTGCCC
AGTGAGGACTACTACACGCCCTCACCGTATGATGACCTCACCTATGGCGAGGGGGAGGAGAACCCCGACCAGCCCACAGACCCAGGCGCT
GGGGCCGAAATTCCCACCAGCACCGCCGACACCTCCAACTCCTCCAATCCAGCTCCGCCTCCAGGGGAAGGTGCGGATGACTTGGAGGGG
GAGTTCACTGAGGAAACGATCCGGAACCTTGACGAGAACTACTACGACCCCTACTACGACCCCACCAGCTCCCCGTCGGAGATCGGGCCG
GGAATGCCGGCGAACCAGGATACCATCTATGAAGGGATTGGAGGACCTCGGGGCGAGAAAGGCCAAAAGGGAGAACCAGCGATTATCGAG
CCGGGCATGCTCATCGAGGGCCCGCCTGGCCCAGAAGGCCCCGCGGGTCTTCCCGGACCTCCAGGAACCATGGGTCCCACTGGCCAAGTC
GGGGACCCTGGAGAAAGGGGCCCCCCTGGACGCCCAGGCCTTCCTGGGGCCGATGGCCTGCCCGGTCCTCCAGGAACCATGCTCATGCTG
CCCTTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAG
GCCAGGTTGGCACTGAGGGGACCAGCTGGCCCGATGGGTCTCACAGGGAGACCTGGCCCTGTGGGTCCCCCTGGGAGCGGAGGTTTGAAG
GGCGAGCCGGGAGACGTGGGGCCTCAGGGTCCTCGAGGTGTGCAAGGCCCGCCTGGTCCGGCCGGGAAGCCCGGAAGACGGGGTCGGGCT
GGGAGTGATGGAGCCAGAGGAATGCCTGGACAAACTGGCCCCAAGGGTGACCGGGGTTTCGACGGCCTGGCTGGGTTGCCAGGCGAGAAG
GGCCACAGGGGTGACCCTGGTCCTTCCGGCCCACCAGGACCTCCGGGAGACGATGGAGAAAGGGGTGACGACGGAGAAGTTGGGCCCAGG
GGGCTGCCTGGGGAGCCCGGGCCACGTGGTCTGCTTGGGCCGAAGGGGCCCCCAGGTCCTCCCGGACCTCCCGGTGTCACGGGTATGGAC
GGCCAGCCGGGGCCAAAAGGAAATGTGGGTCCCCAGGGAGAGCCTGGCCCCCCAGGACAGCAGGGTAATCCAGGCGCCCAGGGTCTTCCA
GGCCCCCAGGGTGCAATTGGTCCTCCAGGAGAAAAGGGTCCCTTGGGGAAACCAGGCCTTCCAGGAATGCCCGGTGCTGACGGACCCCCG
GGACACCCTGGCAAAGAAGGCCCTCCAGGAGAGAAAGGAGGTCAGGGTCCACCTGGCCCCCAGGGTCCGATTGGCTACCCAGGTCCTCGA
GGAGTCAAGGGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAGGGTGAAGACGGCTTTCCTGGGTTTAAAGGAGACATG
GGCATCAAGGGTGATCGGGGGGAGATCGGCCCACCCGGTCCCAGGGGAGAAGATGGCCCTGAAGGCCCAAAGGGTCGCGGAGGTCCCAAT
GGTGACCCCGGTCCTCTGGGACCCCCTGGGGAGAAGGGAAAACTCGGAGTCCCAGGGTTACCAGGGTATCCAGGAAGACAAGGACCAAAG
CTCTCCCTGTCCAGCCGCCTGCAGCTGACCCTGTACCAGTACAAGACGTGTCCCTTCTGCAGCAAGGTCCGAGCCTTCCTCGACTTCCAT
GCCCTGCCCTACCAGGTGGTGGAGGTGAACCCTGTGCGCAGGGCTGAGATCAAGTTCTCCTCCTACAGAAAGGTGCCCATCCTGGTGGCC
CAGGAAGGAGAAAGCTCGCAACAACTAAATGACTCCTCTGTCATCATCAGCGCCCTCAAGACCTACCTGGTGTCGGGGCAGCCCCTGGAA
GAGATCATCACCTACTACCCAGCCATGAAGGCTGTGAACGAGCAGGGCAAGGAGGTGACCGAGTTCGGCAATAAGTACTGGCTCATGCTC
AACGAGAAGGAGGCCCAGCAAGTGTATGGTGGGAAGGAGGCCAGGACGGAGGAGATGAAGTGGCGGCAGTGGGCGGACGACTGGCTGGTG
CACCTGATCTCCCCCAATGTGTACCGCACGCCCACCGAGGCTCTGGCGTCCTTTGACTACATTGTCCGCGAGGGCAAGTTCGGAGCCGTG
GAGGGTGCCGTGGCCAAGTACATGGGTGCAGCGGCCATGTACCTCATCAGCAAGCGACTCAAGAGCAGGCACCGCCTCCAGGACAACGTG
CGCGAGGACCTCTATGAGGCTGCTGACAAGTGGGTGGCTGCTGTGGGCAAGGACCGGCCCTTCATGGGGGGCCAGAAGCCGAATCTCGCT
GATTTGGCGGTGTATGGCGTGCTGCGTGTGATGGAGGGGCTGGATGCGTTCGATGACCTGATGCAGCACACGCACATCCAGCCCTGGTAC
CTGCGGGTGGAGAGGGCCATCACCGAGGCCTCCCCAGCGCACTGAATGTCCCCGCGCAGAGCAGAGGGAAGGCAGCGGAAGACGCCAGCT
GCCAGGGCCTGGGGCCACTGGGCCAGCGCCTGGCGATACTGGTTGGGGGCAGGATCATTCTGCCCCTTGTCCACGCACCCCCACCAGCCC
TCTCGCTTCTAACACAGGGCACCTGCTGGGGCTCAGGGATGTTAGGGACGAGTTCCAGCCCTGCCACTGCCCTGGGGCGACCCCTCCCTG
TCCCTGCCTCCCTGCTCTGCCGCCCCTCTTCCTGGACCCTCAGTGGCTGTCCCATGGCTACATCCTGTGGGTGGGGGCCCTCGACAGGAC
AGCAGGACGGTTTGTTTTCAGTGGAATCCCATCCCTGGGTTCCCCTGGTTCCCACTCTTCCCAAGCCTCCCGGGACTGGGACATGTTTGC
AATAAAGGAAAGGTTTGTGGCGCCTGTCATGGCAGGCATCTCATGGA

>18394_18394_1_COL5A1-PTGES2_COL5A1_chr9_137677894_ENST00000371817_PTGES2_chr9_130887720_ENST00000338961_length(amino acids)=1166AA_BP=875
MDVHTRWKARSALRPGAPLLPPLLLLLLWAPPPSRAAQPADLLKVLDFHNLPDGITKTTGFCATRRSSKGPDVAYRVTKDAQLSAPTKQL
YPASAFPEDFSILTTVKAKKGSQAFLVSIYNEQGIQQIGLELGRSPVFLYEDHTGKPGPEDYPLFRGINLSDGKWHRIALSVHKKNVTLI
LDCKKKTTKFLDRSDHPMIDINGIIVFGTRILDEEVFEGDIQQLLFVSDHRAAYDYCEHYSPDCDTAVPDTPQSQDPNPDEYYTEGDGEG
ETYYYEYPYYEDPEDLGKEPTPSKKPVEAAKETTEVPEELTPTPTEAAPMPETSEGAGKEEDVGIGDYDYVPSEDYYTPSPYDDLTYGEG
EENPDQPTDPGAGAEIPTSTADTSNSSNPAPPPGEGADDLEGEFTEETIRNLDENYYDPYYDPTSSPSEIGPGMPANQDTIYEGIGGPRG
EKGQKGEPAIIEPGMLIEGPPGPEGPAGLPGPPGTMGPTGQVGDPGERGPPGRPGLPGADGLPGPPGTMLMLPFRFGGGGDAGSKGPMVS
AQESQAQAILQQARLALRGPAGPMGLTGRPGPVGPPGSGGLKGEPGDVGPQGPRGVQGPPGPAGKPGRRGRAGSDGARGMPGQTGPKGDR
GFDGLAGLPGEKGHRGDPGPSGPPGPPGDDGERGDDGEVGPRGLPGEPGPRGLLGPKGPPGPPGPPGVTGMDGQPGPKGNVGPQGEPGPP
GQQGNPGAQGLPGPQGAIGPPGEKGPLGKPGLPGMPGADGPPGHPGKEGPPGEKGGQGPPGPQGPIGYPGPRGVKGADGIRGLKGTKGEK
GEDGFPGFKGDMGIKGDRGEIGPPGPRGEDGPEGPKGRGGPNGDPGPLGPPGEKGKLGVPGLPGYPGRQGPKLSLSSRLQLTLYQYKTCP
FCSKVRAFLDFHALPYQVVEVNPVRRAEIKFSSYRKVPILVAQEGESSQQLNDSSVIISALKTYLVSGQPLEEIITYYPAMKAVNEQGKE
VTEFGNKYWLMLNEKEAQQVYGGKEARTEEMKWRQWADDWLVHLISPNVYRTPTEALASFDYIVREGKFGAVEGAVAKYMGAAAMYLISK
RLKSRHRLQDNVREDLYEAADKWVAAVGKDRPFMGGQKPNLADLAVYGVLRVMEGLDAFDDLMQHTHIQPWYLRVERAITEASPAH

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Fusion Gene PPI Analysis for COL5A1-PTGES2


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 COL5A1-PTGES2


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

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Related Diseases for COL5A1-PTGES2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOL5A1C4552122EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 17GENOMICS_ENGLAND;UNIPROT
HgeneCOL5A1C0268335Ehlers-Danlos syndrome type 13CTD_human;GENOMICS_ENGLAND
HgeneCOL5A1C0220679Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified2ORPHANET
HgeneCOL5A1C0268336Ehlers-Danlos syndrome type 22CTD_human;GENOMICS_ENGLAND
HgeneCOL5A1C0000786Spontaneous abortion1CTD_human
HgeneCOL5A1C0000822Abortion, Tubal1CTD_human
HgeneCOL5A1C0005779Blood Coagulation Disorders1GENOMICS_ENGLAND
HgeneCOL5A1C0007097Carcinoma1CTD_human
HgeneCOL5A1C0022548Keloid1CTD_human
HgeneCOL5A1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneCOL5A1C0024667Animal Mammary Neoplasms1CTD_human
HgeneCOL5A1C0024668Mammary Neoplasms, Experimental1CTD_human
HgeneCOL5A1C0033578Prostatic Neoplasms1CTD_human
HgeneCOL5A1C0205696Anaplastic carcinoma1CTD_human
HgeneCOL5A1C0205697Carcinoma, Spindle-Cell1CTD_human
HgeneCOL5A1C0205698Undifferentiated carcinoma1CTD_human
HgeneCOL5A1C0205699Carcinomatosis1CTD_human
HgeneCOL5A1C0376358Malignant neoplasm of prostate1CTD_human
HgeneCOL5A1C1257925Mammary Carcinoma, Animal1CTD_human
HgeneCOL5A1C1458140Bleeding tendency1GENOMICS_ENGLAND
HgeneCOL5A1C1846545Autoimmune Lymphoproliferative Syndrome Type 2B1GENOMICS_ENGLAND
HgeneCOL5A1C3830362Early Pregnancy Loss1CTD_human
HgeneCOL5A1C4225429Ehlers-Danlos syndrome classic type1GENOMICS_ENGLAND
HgeneCOL5A1C4552766Miscarriage1CTD_human
TgeneC0040136Thyroid Neoplasm1CTD_human
TgeneC0151468Thyroid Gland Follicular Adenoma1CTD_human
TgeneC0549473Thyroid carcinoma1CTD_human