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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:PRDM2-PEX14

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: PRDM2-PEX14
FusionPDB ID: 68446
FusionGDB2.0 ID: 68446
HgeneTgene
Gene symbol

PRDM2

PEX14

Gene ID

7799

5195

Gene namePR/SET domain 2peroxisomal biogenesis factor 14
SynonymsHUMHOXY1|KMT8|KMT8A|MTB-ZF|RIZ|RIZ1|RIZ2NAPP2|PBD13A|Pex14p|dJ734G22.2
Cytomap

1p36.21

1p36.22

Type of geneprotein-codingprotein-coding
DescriptionPR domain zinc finger protein 2GATA-3 binding protein G3BMTE-binding proteinPR domain 2PR domain containing 2, with ZNF domainPR domain-containing protein 2lysine N-methyltransferase 8retinoblastoma protein-binding zinc finger proteinretinoblastomperoxisomal membrane protein PEX14NF-E2 associated polypeptide 2PTS1 receptor docking proteinperoxin-14peroxisomal membrane anchor protein PEX14peroxisomal membrane anchor protein Pex14p
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST idsENST00000502727, ENST00000235372, 
ENST00000311066, ENST00000376048, 
ENST00000343137, ENST00000413440, 
ENST00000503842, ENST00000505823, 
ENST00000356607, ENST00000538836, 
ENST00000492696, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score8 X 4 X 5=16013 X 10 X 7=910
# samples 713
** MAII scorelog2(7/160*10)=-1.1926450779424
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/910*10)=-2.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: PRDM2 [Title/Abstract] AND PEX14 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)PRDM2(14075982)-PEX14(10659294), # samples:1
Anticipated loss of major functional domain due to fusion event.PRDM2-PEX14 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.
PRDM2-PEX14 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.
PRDM2-PEX14 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.
PRDM2-PEX14 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
HgenePRDM2

GO:0045944

positive regulation of transcription by RNA polymerase II

8654390

TgenePEX14

GO:0016561

protein import into peroxisome matrix, translocation

21525035

TgenePEX14

GO:0032091

negative regulation of protein binding

21976670

TgenePEX14

GO:0034453

microtubule anchoring

21525035

TgenePEX14

GO:0036250

peroxisome transport along microtubule

21525035

TgenePEX14

GO:0043433

negative regulation of DNA-binding transcription factor activity

11863372

TgenePEX14

GO:0044721

protein import into peroxisome matrix, substrate release

21976670

TgenePEX14

GO:0045892

negative regulation of transcription, DNA-templated

11863372

TgenePEX14

GO:0065003

protein-containing complex assembly

21525035


check buttonFusion gene breakpoints across PRDM2 (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 PEX14 (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
ChimerDB4THCATCGA-ET-A3BSPRDM2chr1

14075982

+PEX14chr1

10659294

+


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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)
ENST00000376048PRDM2chr114075982+ENST00000356607PEX14chr110659294+23736371201601493
ENST00000311066PRDM2chr114075982+ENST00000356607PEX14chr110659294+310313678502331493
ENST00000235372PRDM2chr114075982+ENST00000356607PEX14chr110659294+310313678502331493

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
ENST00000376048ENST00000356607PRDM2chr114075982+PEX14chr110659294+0.0048753620.99512464
ENST00000311066ENST00000356607PRDM2chr114075982+PEX14chr110659294+0.0020384270.99796164
ENST00000235372ENST00000356607PRDM2chr114075982+PEX14chr110659294+0.0020384270.99796164

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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

>68446_68446_1_PRDM2-PEX14_PRDM2_chr1_14075982_ENST00000235372_PEX14_chr1_10659294_ENST00000356607_length(amino acids)=493AA_BP=172
MKMNQNTTEPVAATETLAEVPEHVLRGLPEEVRLFPSAVDKTRIGVWATKPILKGKKFGPFVGDKKKRSQVKNNVYMWEVYYPNLGWMCI
DATDPEKGNWLRYVNWACSGEEQNLFPLEINRAIYYKTLKPIAPGEELLVWYNGEDNPEIAAAIEEERASARSKRSSPKSRKGLTDEEID
MAFQQSGTAADEPSSLGPATQVVPVQPPHLISQPYSPAGSRWRDYGALAIIMAGIAFGFHQLYKKYLLPLILGGREDRKQLERMEAGLSE
LSGSVAQTVTQLQTTLASVQELLIQQQQKIQELAHELAAAKATTSTNWILESQNINELKSEINSLKGLLLNRRQFPPSPSAPKIPSWQIP
VKSPSPSSPAAVNHHSSSDISPVSNESTSSSPGKEGHSPEGSTVTYHLLGPQEEGEGVVDVKGQVRMEVQGEEEKREDKEDEEDEEDDDV

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

>68446_68446_2_PRDM2-PEX14_PRDM2_chr1_14075982_ENST00000311066_PEX14_chr1_10659294_ENST00000356607_length(amino acids)=493AA_BP=172
MKMNQNTTEPVAATETLAEVPEHVLRGLPEEVRLFPSAVDKTRIGVWATKPILKGKKFGPFVGDKKKRSQVKNNVYMWEVYYPNLGWMCI
DATDPEKGNWLRYVNWACSGEEQNLFPLEINRAIYYKTLKPIAPGEELLVWYNGEDNPEIAAAIEEERASARSKRSSPKSRKGLTDEEID
MAFQQSGTAADEPSSLGPATQVVPVQPPHLISQPYSPAGSRWRDYGALAIIMAGIAFGFHQLYKKYLLPLILGGREDRKQLERMEAGLSE
LSGSVAQTVTQLQTTLASVQELLIQQQQKIQELAHELAAAKATTSTNWILESQNINELKSEINSLKGLLLNRRQFPPSPSAPKIPSWQIP
VKSPSPSSPAAVNHHSSSDISPVSNESTSSSPGKEGHSPEGSTVTYHLLGPQEEGEGVVDVKGQVRMEVQGEEEKREDKEDEEDEEDDDV

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

>68446_68446_3_PRDM2-PEX14_PRDM2_chr1_14075982_ENST00000376048_PEX14_chr1_10659294_ENST00000356607_length(amino acids)=493AA_BP=172
MKMNQNTTEPVAATETLAEVPEHVLRGLPEEVRLFPSAVDKTRIGVWATKPILKGKKFGPFVGDKKKRSQVKNNVYMWEVYYPNLGWMCI
DATDPEKGNWLRYVNWACSGEEQNLFPLEINRAIYYKTLKPIAPGEELLVWYNGEDNPEIAAAIEEERASARSKRSSPKSRKGLTDEEID
MAFQQSGTAADEPSSLGPATQVVPVQPPHLISQPYSPAGSRWRDYGALAIIMAGIAFGFHQLYKKYLLPLILGGREDRKQLERMEAGLSE
LSGSVAQTVTQLQTTLASVQELLIQQQQKIQELAHELAAAKATTSTNWILESQNINELKSEINSLKGLLLNRRQFPPSPSAPKIPSWQIP
VKSPSPSSPAAVNHHSSSDISPVSNESTSSSPGKEGHSPEGSTVTYHLLGPQEEGEGVVDVKGQVRMEVQGEEEKREDKEDEEDEEDDDV

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

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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/chr1:14075982/chr1:10659294)
- 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
..
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: 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.

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
HgenePRDM2chr1:14075982chr1:10659294ENST00000235372+61028_141170.333333333333342095.6666666666665DomainSET
HgenePRDM2chr1:14075982chr1:10659294ENST00000311066+6928_141170.333333333333341683.0DomainSET
HgenePRDM2chr1:14075982chr1:10659294ENST00000376048+6828_141170.33333333333334227.0DomainSET

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePRDM2chr1:14075982chr1:10659294ENST00000235372+6101052_1074170.333333333333342095.6666666666665Compositional biasNote=Poly-Ser
HgenePRDM2chr1:14075982chr1:10659294ENST00000235372+6101361_1447170.333333333333342095.6666666666665Compositional biasNote=Arg/Lys-rich (basic)
HgenePRDM2chr1:14075982chr1:10659294ENST00000235372+610268_296170.333333333333342095.6666666666665Compositional biasNote=Asp/Glu-rich (acidic)
HgenePRDM2chr1:14075982chr1:10659294ENST00000235372+610933_1049170.333333333333342095.6666666666665Compositional biasNote=Pro-rich
HgenePRDM2chr1:14075982chr1:10659294ENST00000311066+691052_1074170.333333333333341683.0Compositional biasNote=Poly-Ser
HgenePRDM2chr1:14075982chr1:10659294ENST00000311066+691361_1447170.333333333333341683.0Compositional biasNote=Arg/Lys-rich (basic)
HgenePRDM2chr1:14075982chr1:10659294ENST00000311066+69268_296170.333333333333341683.0Compositional biasNote=Asp/Glu-rich (acidic)
HgenePRDM2chr1:14075982chr1:10659294ENST00000311066+69933_1049170.333333333333341683.0Compositional biasNote=Pro-rich
HgenePRDM2chr1:14075982chr1:10659294ENST00000376048+681052_1074170.33333333333334227.0Compositional biasNote=Poly-Ser
HgenePRDM2chr1:14075982chr1:10659294ENST00000376048+681361_1447170.33333333333334227.0Compositional biasNote=Arg/Lys-rich (basic)
HgenePRDM2chr1:14075982chr1:10659294ENST00000376048+68268_296170.33333333333334227.0Compositional biasNote=Asp/Glu-rich (acidic)
HgenePRDM2chr1:14075982chr1:10659294ENST00000376048+68933_1049170.33333333333334227.0Compositional biasNote=Pro-rich
HgenePRDM2chr1:14075982chr1:10659294ENST00000235372+6101028_1052170.333333333333342095.6666666666665MotifSH3-binding
HgenePRDM2chr1:14075982chr1:10659294ENST00000235372+610970_979170.333333333333342095.6666666666665MotifSH3-binding
HgenePRDM2chr1:14075982chr1:10659294ENST00000235372+610985_998170.333333333333342095.6666666666665MotifSH3-binding
HgenePRDM2chr1:14075982chr1:10659294ENST00000311066+691028_1052170.333333333333341683.0MotifSH3-binding
HgenePRDM2chr1:14075982chr1:10659294ENST00000311066+69970_979170.333333333333341683.0MotifSH3-binding
HgenePRDM2chr1:14075982chr1:10659294ENST00000311066+69985_998170.333333333333341683.0MotifSH3-binding
HgenePRDM2chr1:14075982chr1:10659294ENST00000376048+681028_1052170.33333333333334227.0MotifSH3-binding
HgenePRDM2chr1:14075982chr1:10659294ENST00000376048+68970_979170.33333333333334227.0MotifSH3-binding
HgenePRDM2chr1:14075982chr1:10659294ENST00000376048+68985_998170.33333333333334227.0MotifSH3-binding
HgenePRDM2chr1:14075982chr1:10659294ENST00000235372+610294_316170.333333333333342095.6666666666665RegionNote=Retinoblastoma protein binding
HgenePRDM2chr1:14075982chr1:10659294ENST00000311066+69294_316170.333333333333341683.0RegionNote=Retinoblastoma protein binding
HgenePRDM2chr1:14075982chr1:10659294ENST00000376048+68294_316170.33333333333334227.0RegionNote=Retinoblastoma protein binding
HgenePRDM2chr1:14075982chr1:10659294ENST00000235372+6101134_1156170.333333333333342095.6666666666665Zinc fingerC2H2-type 4
HgenePRDM2chr1:14075982chr1:10659294ENST00000235372+6101162_1185170.333333333333342095.6666666666665Zinc fingerC2H2-type 5
HgenePRDM2chr1:14075982chr1:10659294ENST00000235372+6101191_1214170.333333333333342095.6666666666665Zinc fingerC2H2-type 6
HgenePRDM2chr1:14075982chr1:10659294ENST00000235372+6101333_1355170.333333333333342095.6666666666665Zinc fingerC2H2-type 7%3B atypical
HgenePRDM2chr1:14075982chr1:10659294ENST00000235372+6101455_1478170.333333333333342095.6666666666665Zinc fingerC2H2-type 8%3B atypical
HgenePRDM2chr1:14075982chr1:10659294ENST00000235372+610360_382170.333333333333342095.6666666666665Zinc fingerC2H2-type 1
HgenePRDM2chr1:14075982chr1:10659294ENST00000235372+610390_412170.333333333333342095.6666666666665Zinc fingerC2H2-type 2
HgenePRDM2chr1:14075982chr1:10659294ENST00000235372+610483_506170.333333333333342095.6666666666665Zinc fingerC2H2-type 3
HgenePRDM2chr1:14075982chr1:10659294ENST00000311066+691134_1156170.333333333333341683.0Zinc fingerC2H2-type 4
HgenePRDM2chr1:14075982chr1:10659294ENST00000311066+691162_1185170.333333333333341683.0Zinc fingerC2H2-type 5
HgenePRDM2chr1:14075982chr1:10659294ENST00000311066+691191_1214170.333333333333341683.0Zinc fingerC2H2-type 6
HgenePRDM2chr1:14075982chr1:10659294ENST00000311066+691333_1355170.333333333333341683.0Zinc fingerC2H2-type 7%3B atypical
HgenePRDM2chr1:14075982chr1:10659294ENST00000311066+691455_1478170.333333333333341683.0Zinc fingerC2H2-type 8%3B atypical
HgenePRDM2chr1:14075982chr1:10659294ENST00000311066+69360_382170.333333333333341683.0Zinc fingerC2H2-type 1
HgenePRDM2chr1:14075982chr1:10659294ENST00000311066+69390_412170.333333333333341683.0Zinc fingerC2H2-type 2
HgenePRDM2chr1:14075982chr1:10659294ENST00000311066+69483_506170.333333333333341683.0Zinc fingerC2H2-type 3
HgenePRDM2chr1:14075982chr1:10659294ENST00000376048+681134_1156170.33333333333334227.0Zinc fingerC2H2-type 4
HgenePRDM2chr1:14075982chr1:10659294ENST00000376048+681162_1185170.33333333333334227.0Zinc fingerC2H2-type 5
HgenePRDM2chr1:14075982chr1:10659294ENST00000376048+681191_1214170.33333333333334227.0Zinc fingerC2H2-type 6
HgenePRDM2chr1:14075982chr1:10659294ENST00000376048+681333_1355170.33333333333334227.0Zinc fingerC2H2-type 7%3B atypical
HgenePRDM2chr1:14075982chr1:10659294ENST00000376048+681455_1478170.33333333333334227.0Zinc fingerC2H2-type 8%3B atypical
HgenePRDM2chr1:14075982chr1:10659294ENST00000376048+68360_382170.33333333333334227.0Zinc fingerC2H2-type 1
HgenePRDM2chr1:14075982chr1:10659294ENST00000376048+68390_412170.33333333333334227.0Zinc fingerC2H2-type 2
HgenePRDM2chr1:14075982chr1:10659294ENST00000376048+68483_506170.33333333333334227.0Zinc fingerC2H2-type 3


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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
PRDM2
PEX14


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 PRDM2-PEX14


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 PRDM2-PEX14


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