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Center for Computational Systems Medicine
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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:PTGIS-IFT52 (FusionGDB2 ID:70000)

Fusion Gene Summary for PTGIS-IFT52

check button Fusion gene summary
Fusion gene informationFusion gene name: PTGIS-IFT52
Fusion gene ID: 70000
HgeneTgene
Gene symbol

PTGIS

IFT52

Gene ID

5740

51098

Gene nameprostaglandin I2 synthaseintraflagellar transport 52
SynonymsCYP8|CYP8A1|PGIS|PTGIC20orf9|CGI-53|NGD2|NGD5
Cytomap

20q13.13

20q13.12

Type of geneprotein-codingprotein-coding
Descriptionprostacyclin synthasecytochrome P450, family 8, subfamily A, polypeptide 1prostaglandin I2 (prostacyclin) synthaseintraflagellar transport protein 52 homologprotein NGD5 homolog
Modification date2020032720200315
UniProtAcc.

Q9Y366

Ensembl transtripts involved in fusion geneENST00000244043, ENST00000478971, 
ENST00000471199, ENST00000373030, 
ENST00000373039, 
Fusion gene scores* DoF score3 X 3 X 3=277 X 7 X 6=294
# samples 37
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(7/294*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PTGIS [Title/Abstract] AND IFT52 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPTGIS(48156107)-IFT52(42232823), # samples:3
Anticipated loss of major functional domain due to fusion event.
* 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
HgenePTGIS

GO:0001516

prostaglandin biosynthetic process

20122998|21296955

HgenePTGIS

GO:0032088

negative regulation of NF-kappaB transcription factor activity

20159982

HgenePTGIS

GO:0035360

positive regulation of peroxisome proliferator activated receptor signaling pathway

11551955

HgenePTGIS

GO:0045019

negative regulation of nitric oxide biosynthetic process

20159982

HgenePTGIS

GO:0050728

negative regulation of inflammatory response

20159982

HgenePTGIS

GO:0071456

cellular response to hypoxia

21296955

HgenePTGIS

GO:0097190

apoptotic signaling pathway

11551955

HgenePTGIS

GO:1900119

positive regulation of execution phase of apoptosis

11551955


check buttonFusion gene breakpoints across PTGIS (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 IFT52 (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
ChimerDB4SKCMTCGA-EE-A3AD-06APTGISchr20

48156107

-IFT52chr20

42232823

+


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Fusion Gene ORF analysis for PTGIS-IFT52

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-intronENST00000244043ENST00000471199PTGISchr20

48156107

-IFT52chr20

42232823

+
5UTR-3CDSENST00000478971ENST00000373030PTGISchr20

48156107

-IFT52chr20

42232823

+
5UTR-3CDSENST00000478971ENST00000373039PTGISchr20

48156107

-IFT52chr20

42232823

+
5UTR-intronENST00000478971ENST00000471199PTGISchr20

48156107

-IFT52chr20

42232823

+
In-frameENST00000244043ENST00000373030PTGISchr20

48156107

-IFT52chr20

42232823

+
In-frameENST00000244043ENST00000373039PTGISchr20

48156107

-IFT52chr20

42232823

+

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)
ENST00000244043PTGISchr2048156107-ENST00000373030IFT52chr2042232823+1993703301679549
ENST00000244043PTGISchr2048156107-ENST00000373039IFT52chr2042232823+1919703301679549

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
ENST00000244043ENST00000373030PTGISchr2048156107-IFT52chr2042232823+0.0020306130.9979693
ENST00000244043ENST00000373039PTGISchr2048156107-IFT52chr2042232823+0.0024037330.9975962

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Fusion Genomic Features for PTGIS-IFT52


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)
PTGISchr2048156106-IFT52chr2042232822+3.50E-070.99999964
PTGISchr2048156106-IFT52chr2042232822+3.50E-070.99999964

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

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for PTGIS-IFT52


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/chr20:48156107/chr20:42232823)
- 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
.IFT52

Q9Y366

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}.FUNCTION: Involved in ciliogenesis as part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia (PubMed:27466190). Required for the anterograde transport of IFT88 (PubMed:27466190). {ECO:0000269|PubMed:27466190}.

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
HgenePTGISchr20:48156107chr20:42232823ENST00000244043-5101_20224501.0TransmembraneHelical
TgeneIFT52chr20:48156107chr20:42232823ENST00000373030314348_351112438.0Compositional biasNote=Poly-Pro
TgeneIFT52chr20:48156107chr20:42232823ENST00000373039314348_351112438.0Compositional biasNote=Poly-Pro

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePTGISchr20:48156107chr20:42232823ENST00000244043-510358_359224501.0RegionSubstrate binding


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Fusion Gene Sequence for PTGIS-IFT52


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.
>70000_70000_1_PTGIS-IFT52_PTGIS_chr20_48156107_ENST00000244043_IFT52_chr20_42232823_ENST00000373030_length(transcript)=1993nt_BP=703nt
GCCAGCCCCGCCAGCCCCGCCAGCCCCGCGATGGCTTGGGCCGCGCTCCTCGGCCTCCTGGCCGCACTGTTGCTGCTGCTGCTACTGAGC
CGCCGCCGCACGCGGCGACCTGGTGAGCCTCCCCTGGACCTGGGCAGCATCCCCTGGTTGGGGTATGCCTTGGACTTTGGAAAAGATGCT
GCCAGCTTCCTCACGAGGATGAAGGAGAAGCACGGTGACATCTTTACTATACTGGTTGGGGGCAGGTATGTCACCGTTCTCCTGGACCCA
CACTCCTACGACGCGGTGGTGTGGGAGCCTCGCACCAGGCTCGACTTCCATGCCTATGCCATCTTCCTCATGGAGAGGATTTTTGATGTG
CAGCTTCCACATTACAGCCCCAGTGATGAAAAGGCCAGGATGAAACTGACTCTTCTCCACAGAGAGCTCCAGGCACTCACAGAAGCCATG
TATACCAACCTCCATGCAGTGCTGTTGGGCGATGCTACAGAAGCAGGCAGTGGCTGGCACGAGATGGGTCTCCTCGACTTCTCCTACAGC
TTCCTGCTCAGAGCCGGCTACCTGACTCTTTACGGAATTGAGGCGCTGCCACGCACCCATGAAAGCCAGGCCCAGGACCGCGTCCACTCA
GCTGATGTCTTCCACACCTTTCGCCAGCTCGACCGGCTGCTCCCCAAACTGGCCCGTGGCTCCCTGTCAGTGGATGCTGTGGTTAGAAAT
GTATATCACAAATATTTCCATCCTAAAGAAGCTCTAGTTTCCAGTGGAGTCTTGAACAGGGAAATTAGCCGAGCTGCAGGAAAGGCTGTG
CCTGGGATCATTGATGAGGAAAGCAGTGGAAACAATGCCCAGGCTCTCACCTTTGTGTATCCTTTTGGTGCCACATTGAGTGTCATGAAA
CCAGCAGTGGCGGTTCTGTCTACAGGTTCTGTCTGCTTCCCACTTAACAGACCCATTTTGGCTTTCTATCACTCAAAGAACCAAGGTGGG
AAGCTGGCAGTGCTTGGTTCATGTCACATGTTCAGTGATCAATATTTGGACAAAGAAGAAAACAGCAAAATCATGGATGTTGTTTTCCAG
TGGCTCACGACAGGAGACATCCACCTAAACCAGATTGATGCTGAGGACCCAGAGATTTCTGACTACATGATGCTGCCCTACACAGCCACC
CTATCAAAGCGGAATCGAGAGTGTCTCCAGGAGAGTGATGAGATCCCAAGGGACTTTACCACCCTCTTCGACCTGTCCATCTTCCAGCTG
GATACCACCTCCTTCCACAGCGTCATCGAGGCTCACGAGCAGCTAAATGTGAAACATGAACCACTCCAGCTCATCCAGCCTCAGTTTGAG
ACGCCGCTGCCAACCCTTCAGCCTGCGGTTTTTCCTCCCAGTTTCCGGGAGTTACCACCTCCTCCTCTGGAGCTATTTGATTTAGATGAA
ACGTTCTCCTCTGAGAAGGCACGGCTGGCTCAGATTACCAATAAGTGTACTGAAGAAGACCTGGAATTTTATGTCAGGAAGTGTGGTGAT
ATTCTTGGAGTAACCAGTAAACTACCAAAGGACCAACAGGATGCCAAACATATCCTTGAGCACGTCTTCTTCCAAGTGGTGGAGTTCAAG
AAATTGAACCAGGAACATGACATCGATACAAGTGAAACAGCATTCCAGAACAATTTCTGAAGACCATGCCTCTTGAAGCTTTTTCTGCCT
CCTGATTCTCTCTTTGTAAACTATTTTCAAATTGTTTTTCAACTCCTTATCAAAATTGTTTATACACTCTTTCCTCCATGAGCTCTGGAA
GGTATATGCATCTTCTGTAATACTCAGATAGGTATAAGATTTTTCACAAAATCCTTATGTAAGATACATTCCATTTTTAAAAATTAAATG
TATGGTTGCATCTGTCTTTTTATACCCTATGAAACAGTCTTGATTTTTTTTTCTCAACCCCAGTTCTGGATTTGAGTCTTTTATCAAAGA

>70000_70000_1_PTGIS-IFT52_PTGIS_chr20_48156107_ENST00000244043_IFT52_chr20_42232823_ENST00000373030_length(amino acids)=549AA_BP=224
MAWAALLGLLAALLLLLLLSRRRTRRPGEPPLDLGSIPWLGYALDFGKDAASFLTRMKEKHGDIFTILVGGRYVTVLLDPHSYDAVVWEP
RTRLDFHAYAIFLMERIFDVQLPHYSPSDEKARMKLTLLHRELQALTEAMYTNLHAVLLGDATEAGSGWHEMGLLDFSYSFLLRAGYLTL
YGIEALPRTHESQAQDRVHSADVFHTFRQLDRLLPKLARGSLSVDAVVRNVYHKYFHPKEALVSSGVLNREISRAAGKAVPGIIDEESSG
NNAQALTFVYPFGATLSVMKPAVAVLSTGSVCFPLNRPILAFYHSKNQGGKLAVLGSCHMFSDQYLDKEENSKIMDVVFQWLTTGDIHLN
QIDAEDPEISDYMMLPYTATLSKRNRECLQESDEIPRDFTTLFDLSIFQLDTTSFHSVIEAHEQLNVKHEPLQLIQPQFETPLPTLQPAV
FPPSFRELPPPPLELFDLDETFSSEKARLAQITNKCTEEDLEFYVRKCGDILGVTSKLPKDQQDAKHILEHVFFQVVEFKKLNQEHDIDT

--------------------------------------------------------------
>70000_70000_2_PTGIS-IFT52_PTGIS_chr20_48156107_ENST00000244043_IFT52_chr20_42232823_ENST00000373039_length(transcript)=1919nt_BP=703nt
GCCAGCCCCGCCAGCCCCGCCAGCCCCGCGATGGCTTGGGCCGCGCTCCTCGGCCTCCTGGCCGCACTGTTGCTGCTGCTGCTACTGAGC
CGCCGCCGCACGCGGCGACCTGGTGAGCCTCCCCTGGACCTGGGCAGCATCCCCTGGTTGGGGTATGCCTTGGACTTTGGAAAAGATGCT
GCCAGCTTCCTCACGAGGATGAAGGAGAAGCACGGTGACATCTTTACTATACTGGTTGGGGGCAGGTATGTCACCGTTCTCCTGGACCCA
CACTCCTACGACGCGGTGGTGTGGGAGCCTCGCACCAGGCTCGACTTCCATGCCTATGCCATCTTCCTCATGGAGAGGATTTTTGATGTG
CAGCTTCCACATTACAGCCCCAGTGATGAAAAGGCCAGGATGAAACTGACTCTTCTCCACAGAGAGCTCCAGGCACTCACAGAAGCCATG
TATACCAACCTCCATGCAGTGCTGTTGGGCGATGCTACAGAAGCAGGCAGTGGCTGGCACGAGATGGGTCTCCTCGACTTCTCCTACAGC
TTCCTGCTCAGAGCCGGCTACCTGACTCTTTACGGAATTGAGGCGCTGCCACGCACCCATGAAAGCCAGGCCCAGGACCGCGTCCACTCA
GCTGATGTCTTCCACACCTTTCGCCAGCTCGACCGGCTGCTCCCCAAACTGGCCCGTGGCTCCCTGTCAGTGGATGCTGTGGTTAGAAAT
GTATATCACAAATATTTCCATCCTAAAGAAGCTCTAGTTTCCAGTGGAGTCTTGAACAGGGAAATTAGCCGAGCTGCAGGAAAGGCTGTG
CCTGGGATCATTGATGAGGAAAGCAGTGGAAACAATGCCCAGGCTCTCACCTTTGTGTATCCTTTTGGTGCCACATTGAGTGTCATGAAA
CCAGCAGTGGCGGTTCTGTCTACAGGTTCTGTCTGCTTCCCACTTAACAGACCCATTTTGGCTTTCTATCACTCAAAGAACCAAGGTGGG
AAGCTGGCAGTGCTTGGTTCATGTCACATGTTCAGTGATCAATATTTGGACAAAGAAGAAAACAGCAAAATCATGGATGTTGTTTTCCAG
TGGCTCACGACAGGAGACATCCACCTAAACCAGATTGATGCTGAGGACCCAGAGATTTCTGACTACATGATGCTGCCCTACACAGCCACC
CTATCAAAGCGGAATCGAGAGTGTCTCCAGGAGAGTGATGAGATCCCAAGGGACTTTACCACCCTCTTCGACCTGTCCATCTTCCAGCTG
GATACCACCTCCTTCCACAGCGTCATCGAGGCTCACGAGCAGCTAAATGTGAAACATGAACCACTCCAGCTCATCCAGCCTCAGTTTGAG
ACGCCGCTGCCAACCCTTCAGCCTGCGGTTTTTCCTCCCAGTTTCCGGGAGTTACCACCTCCTCCTCTGGAGCTATTTGATTTAGATGAA
ACGTTCTCCTCTGAGAAGGCACGGCTGGCTCAGATTACCAATAAGTGTACTGAAGAAGACCTGGAATTTTATGTCAGGAAGTGTGGTGAT
ATTCTTGGAGTAACCAGTAAACTACCAAAGGACCAACAGGATGCCAAACATATCCTTGAGCACGTCTTCTTCCAAGTGGTGGAGTTCAAG
AAATTGAACCAGGAACATGACATCGATACAAGTGAAACAGCATTCCAGAACAATTTCTGAAGACCATGCCTCTTGAAGCTTTTTCTGCCT
CCTGATTCTCTCTTTGTAAACTATTTTCAAATTGTTTTTCAACTCCTTATCAAAATTGTTTATACACTCTTTCCTCCATGAGCTCTGGAA
GGTATATGCATCTTCTGTAATACTCAGATAGGTATAAGATTTTTCACAAAATCCTTATGTAAGATACATTCCATTTTTAAAAATTAAATG

>70000_70000_2_PTGIS-IFT52_PTGIS_chr20_48156107_ENST00000244043_IFT52_chr20_42232823_ENST00000373039_length(amino acids)=549AA_BP=224
MAWAALLGLLAALLLLLLLSRRRTRRPGEPPLDLGSIPWLGYALDFGKDAASFLTRMKEKHGDIFTILVGGRYVTVLLDPHSYDAVVWEP
RTRLDFHAYAIFLMERIFDVQLPHYSPSDEKARMKLTLLHRELQALTEAMYTNLHAVLLGDATEAGSGWHEMGLLDFSYSFLLRAGYLTL
YGIEALPRTHESQAQDRVHSADVFHTFRQLDRLLPKLARGSLSVDAVVRNVYHKYFHPKEALVSSGVLNREISRAAGKAVPGIIDEESSG
NNAQALTFVYPFGATLSVMKPAVAVLSTGSVCFPLNRPILAFYHSKNQGGKLAVLGSCHMFSDQYLDKEENSKIMDVVFQWLTTGDIHLN
QIDAEDPEISDYMMLPYTATLSKRNRECLQESDEIPRDFTTLFDLSIFQLDTTSFHSVIEAHEQLNVKHEPLQLIQPQFETPLPTLQPAV
FPPSFRELPPPPLELFDLDETFSSEKARLAQITNKCTEEDLEFYVRKCGDILGVTSKLPKDQQDAKHILEHVFFQVVEFKKLNQEHDIDT

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

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Fusion Gene PPI Analysis for PTGIS-IFT52


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 PTGIS-IFT52


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 PTGIS-IFT52


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