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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:SEPT9-MPO

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SEPT9-MPO
FusionPDB ID: 80525
FusionGDB2.0 ID: 80525
HgeneTgene
Gene symbol

SEPT9

MPO

Gene ID

10801

4353

Gene nameseptin 9myeloperoxidase
SynonymsAF17q25|MSF|MSF1|NAPB|PNUTL4|SEPT9|SINT1|SeptD1-
Cytomap

17q25.3

17q22

Type of geneprotein-codingprotein-coding
Descriptionseptin-9MLL septin-like fusion protein MSF-AOv/Br septinovarian/breast septinseptin D1myeloperoxidase
Modification date2020032820200329
UniProtAcc.

P05164

Ensembl transtripts involved in fusion geneENST idsENST00000427177, ENST00000431235, 
ENST00000449803, ENST00000329047, 
ENST00000423034, ENST00000427180, 
ENST00000427674, ENST00000541152, 
ENST00000585930, ENST00000588690, 
ENST00000590294, ENST00000590917, 
ENST00000591088, ENST00000591198, 
ENST00000592420, ENST00000592481, 
ENST00000592951, 
ENST00000578493, 
ENST00000225275, ENST00000340482, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score31 X 14 X 18=781212 X 18 X 3=648
# samples 4112
** MAII scorelog2(41/7812*10)=-4.25199613438135
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/648*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: SEPT9 [Title/Abstract] AND MPO [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SEPT9(75303279)-MPO(56351030), # samples:1
SEPT9(75303279)-MPO(56353063), # samples:1
Anticipated loss of major functional domain due to fusion event.SEPT9-MPO 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.
SEPT9-MPO 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.
SEPT9-MPO 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
TgeneMPO

GO:0034374

low-density lipoprotein particle remodeling

10772654

TgeneMPO

GO:0042744

hydrogen peroxide catabolic process

10772654|11907569

TgeneMPO

GO:0055114

oxidation-reduction process

10772654


check buttonFusion gene breakpoints across SEPT9 (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 MPO (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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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
ChimerDB4LUADTCGA-05-5429-01ASEPT9chr17

75303279

+MPOchr17

56351030

-
ChimerDB4LUADTCGA-05-5429-01ASEPT9chr17

75303279

-MPOchr17

56353063

-


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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)
ENST00000427177SEPT9chr1775303279-ENST00000340482MPOchr1756353063-20362021261235369
ENST00000427177SEPT9chr1775303279-ENST00000225275MPOchr1756353063-20362021261235369

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
ENST00000427177ENST00000340482SEPT9chr1775303279-MPOchr1756353063-0.0126343680.9873656
ENST00000427177ENST00000225275SEPT9chr1775303279-MPOchr1756353063-0.0126343680.9873656

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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

>80525_80525_1_SEPT9-MPO_SEPT9_chr17_75303279_ENST00000427177_MPO_chr17_56353063_ENST00000225275_length(amino acids)=369AA_BP=25
MKKSYSGGTRTSSGRLRRLGDSSGPGDTRSSEMPELTSMHTLLLREHNRLATELKSLNPRWDGERLYQEARKIVGAMVQIITYRDYLPLV
LGPTAMRKYLPTYRSYNDSVDPRIANVFTNAFRYGHTLIQPFMFRLDNRYQPMEPNPRVPLSRVFFASWRVVLEGGIDPILRGLMATPAK
LNRQNQIAVDEIRERLFEQVMRIGLDLPALNMQRSRDHGLPGYNAWRRFCGLPQPETVGQLGTVLRNLKLARKLMEQYGTPNNIDIWMGG
VSEPLKRKGRVGPLLACIIGTQFRKLRDGDRFWWENEGVFSMQQRQALAQISLPRIICDNTGITTVSKNNIFMSNSYPRDFVNCSTLPAL

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

>80525_80525_2_SEPT9-MPO_SEPT9_chr17_75303279_ENST00000427177_MPO_chr17_56353063_ENST00000340482_length(amino acids)=369AA_BP=25
MKKSYSGGTRTSSGRLRRLGDSSGPGDTRSSEMPELTSMHTLLLREHNRLATELKSLNPRWDGERLYQEARKIVGAMVQIITYRDYLPLV
LGPTAMRKYLPTYRSYNDSVDPRIANVFTNAFRYGHTLIQPFMFRLDNRYQPMEPNPRVPLSRVFFASWRVVLEGGIDPILRGLMATPAK
LNRQNQIAVDEIRERLFEQVMRIGLDLPALNMQRSRDHGLPGYNAWRRFCGLPQPETVGQLGTVLRNLKLARKLMEQYGTPNNIDIWMGG
VSEPLKRKGRVGPLLACIIGTQFRKLRDGDRFWWENEGVFSMQQRQALAQISLPRIICDNTGITTVSKNNIFMSNSYPRDFVNCSTLPAL

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

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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/chr17:75303279/chr17:56351030)
- 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
.MPO

P05164

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Part of the host defense system of polymorphonuclear leukocytes. It is responsible for microbicidal activity against a wide range of organisms. In the stimulated PMN, MPO catalyzes the production of hypohalous acids, primarily hypochlorous acid in physiologic situations, and other toxic intermediates that greatly enhance PMN microbicidal activity. {ECO:0000269|PubMed:9922160}.

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

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSEPT9chr17:75303279chr17:56353063ENST00000329047-111295_5670569.0DomainSeptin-type G
HgeneSEPT9chr17:75303279chr17:56353063ENST00000423034-111295_5670580.0DomainSeptin-type G
HgeneSEPT9chr17:75303279chr17:56353063ENST00000427177-212295_56725.333333333333332587.0DomainSeptin-type G
HgeneSEPT9chr17:75303279chr17:56353063ENST00000427180-110295_5670475.0DomainSeptin-type G
HgeneSEPT9chr17:75303279chr17:56353063ENST00000427674-111295_5670423.0DomainSeptin-type G
HgeneSEPT9chr17:75303279chr17:56353063ENST00000431235-212295_5670423.0DomainSeptin-type G
HgeneSEPT9chr17:75303279chr17:56353063ENST00000449803-212295_5670423.0DomainSeptin-type G
HgeneSEPT9chr17:75303279chr17:56353063ENST00000541152-110295_5670336.0DomainSeptin-type G
HgeneSEPT9chr17:75303279chr17:56353063ENST00000585930-110295_5670363.0DomainSeptin-type G
HgeneSEPT9chr17:75303279chr17:56353063ENST00000588690-112295_5670512.6666666666666DomainSeptin-type G
HgeneSEPT9chr17:75303279chr17:56353063ENST00000590294-112295_5670354.3333333333333DomainSeptin-type G
HgeneSEPT9chr17:75303279chr17:56353063ENST00000591088-110295_5670336.0DomainSeptin-type G
HgeneSEPT9chr17:75303279chr17:56353063ENST00000591198-111295_5670568.0DomainSeptin-type G
HgeneSEPT9chr17:75303279chr17:56353063ENST00000592951-110295_5670336.0DomainSeptin-type G
HgeneSEPT9chr17:75303279chr17:56353063ENST00000329047-111445_4530569.0Nucleotide bindingGTP
HgeneSEPT9chr17:75303279chr17:56353063ENST00000423034-111445_4530580.0Nucleotide bindingGTP
HgeneSEPT9chr17:75303279chr17:56353063ENST00000427177-212445_45325.333333333333332587.0Nucleotide bindingGTP
HgeneSEPT9chr17:75303279chr17:56353063ENST00000427180-110445_4530475.0Nucleotide bindingGTP
HgeneSEPT9chr17:75303279chr17:56353063ENST00000427674-111445_4530423.0Nucleotide bindingGTP
HgeneSEPT9chr17:75303279chr17:56353063ENST00000431235-212445_4530423.0Nucleotide bindingGTP
HgeneSEPT9chr17:75303279chr17:56353063ENST00000449803-212445_4530423.0Nucleotide bindingGTP
HgeneSEPT9chr17:75303279chr17:56353063ENST00000541152-110445_4530336.0Nucleotide bindingGTP
HgeneSEPT9chr17:75303279chr17:56353063ENST00000585930-110445_4530363.0Nucleotide bindingGTP
HgeneSEPT9chr17:75303279chr17:56353063ENST00000588690-112445_4530512.6666666666666Nucleotide bindingGTP
HgeneSEPT9chr17:75303279chr17:56353063ENST00000590294-112445_4530354.3333333333333Nucleotide bindingGTP
HgeneSEPT9chr17:75303279chr17:56353063ENST00000591088-110445_4530336.0Nucleotide bindingGTP
HgeneSEPT9chr17:75303279chr17:56353063ENST00000591198-111445_4530568.0Nucleotide bindingGTP
HgeneSEPT9chr17:75303279chr17:56353063ENST00000592951-110445_4530336.0Nucleotide bindingGTP
HgeneSEPT9chr17:75303279chr17:56353063ENST00000329047-111305_3120569.0RegionG1 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000329047-111362_3650569.0RegionG3 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000329047-111444_4470569.0RegionG4 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000423034-111305_3120580.0RegionG1 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000423034-111362_3650580.0RegionG3 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000423034-111444_4470580.0RegionG4 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000427177-212305_31225.333333333333332587.0RegionG1 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000427177-212362_36525.333333333333332587.0RegionG3 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000427177-212444_44725.333333333333332587.0RegionG4 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000427180-110305_3120475.0RegionG1 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000427180-110362_3650475.0RegionG3 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000427180-110444_4470475.0RegionG4 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000427674-111305_3120423.0RegionG1 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000427674-111362_3650423.0RegionG3 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000427674-111444_4470423.0RegionG4 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000431235-212305_3120423.0RegionG1 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000431235-212362_3650423.0RegionG3 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000431235-212444_4470423.0RegionG4 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000449803-212305_3120423.0RegionG1 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000449803-212362_3650423.0RegionG3 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000449803-212444_4470423.0RegionG4 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000541152-110305_3120336.0RegionG1 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000541152-110362_3650336.0RegionG3 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000541152-110444_4470336.0RegionG4 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000585930-110305_3120363.0RegionG1 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000585930-110362_3650363.0RegionG3 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000585930-110444_4470363.0RegionG4 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000588690-112305_3120512.6666666666666RegionG1 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000588690-112362_3650512.6666666666666RegionG3 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000588690-112444_4470512.6666666666666RegionG4 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000590294-112305_3120354.3333333333333RegionG1 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000590294-112362_3650354.3333333333333RegionG3 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000590294-112444_4470354.3333333333333RegionG4 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000591088-110305_3120336.0RegionG1 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000591088-110362_3650336.0RegionG3 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000591088-110444_4470336.0RegionG4 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000591198-111305_3120568.0RegionG1 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000591198-111362_3650568.0RegionG3 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000591198-111444_4470568.0RegionG4 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000592951-110305_3120336.0RegionG1 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000592951-110362_3650336.0RegionG3 motif
HgeneSEPT9chr17:75303279chr17:56353063ENST00000592951-110444_4470336.0RegionG4 motif


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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


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
SEPT9
MPO


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


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Related Drugs to SEPT9-MPO


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

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Related Diseases to SEPT9-MPO


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

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource