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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:PCGF2-RBP4 (FusionGDB2 ID:62891)

Fusion Gene Summary for PCGF2-RBP4

check button Fusion gene summary
Fusion gene informationFusion gene name: PCGF2-RBP4
Fusion gene ID: 62891
HgeneTgene
Gene symbol

PCGF2

RBP4

Gene ID

7703

5950

Gene namepolycomb group ring finger 2retinol binding protein 4
SynonymsMEL-18|RNF110|TPFS|ZNF144MCOPCB10|RDCCAS
Cytomap

17q12

10q23.33

Type of geneprotein-codingprotein-coding
Descriptionpolycomb group RING finger protein 2DNA-binding protein Mel-18ring finger protein 110zinc finger protein 144retinol-binding protein 4PRBPRBPplasma retinol-binding proteinretinol binding protein 4, plasmaretinol-binding protein 4, interstitial
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000360797, ENST00000580830, 
ENST00000581345, ENST00000579882, 
ENST00000585100, ENST00000578109, 
ENST00000371464, ENST00000371467, 
ENST00000371469, 
Fusion gene scores* DoF score6 X 6 X 5=1808 X 5 X 4=160
# samples 68
** MAII scorelog2(6/180*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/160*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PCGF2 [Title/Abstract] AND RBP4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPCGF2(36891718)-RBP4(95360559), # samples:1
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
TgeneRBP4

GO:0030277

maintenance of gastrointestinal epithelium

10944490

TgeneRBP4

GO:0032526

response to retinoic acid

571335

TgeneRBP4

GO:0042593

glucose homeostasis

17003346


check buttonFusion gene breakpoints across PCGF2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across RBP4 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4LIHCTCGA-BC-A10Z-01APCGF2chr17

36891718

-RBP4chr10

95360559

-


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Fusion Gene ORF analysis for PCGF2-RBP4

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
intron-3CDSENST00000360797ENST00000371464PCGF2chr17

36891718

-RBP4chr10

95360559

-
intron-3CDSENST00000360797ENST00000371467PCGF2chr17

36891718

-RBP4chr10

95360559

-
intron-3CDSENST00000360797ENST00000371469PCGF2chr17

36891718

-RBP4chr10

95360559

-
intron-3CDSENST00000580830ENST00000371464PCGF2chr17

36891718

-RBP4chr10

95360559

-
intron-3CDSENST00000580830ENST00000371467PCGF2chr17

36891718

-RBP4chr10

95360559

-
intron-3CDSENST00000580830ENST00000371469PCGF2chr17

36891718

-RBP4chr10

95360559

-
intron-3CDSENST00000581345ENST00000371464PCGF2chr17

36891718

-RBP4chr10

95360559

-
intron-3CDSENST00000581345ENST00000371467PCGF2chr17

36891718

-RBP4chr10

95360559

-
intron-3CDSENST00000581345ENST00000371469PCGF2chr17

36891718

-RBP4chr10

95360559

-
intron-3CDSENST00000579882ENST00000371464PCGF2chr17

36891718

-RBP4chr10

95360559

-
intron-3CDSENST00000579882ENST00000371467PCGF2chr17

36891718

-RBP4chr10

95360559

-
intron-3CDSENST00000579882ENST00000371469PCGF2chr17

36891718

-RBP4chr10

95360559

-
intron-3CDSENST00000585100ENST00000371464PCGF2chr17

36891718

-RBP4chr10

95360559

-
intron-3CDSENST00000585100ENST00000371467PCGF2chr17

36891718

-RBP4chr10

95360559

-
intron-3CDSENST00000585100ENST00000371469PCGF2chr17

36891718

-RBP4chr10

95360559

-
intron-3CDSENST00000578109ENST00000371464PCGF2chr17

36891718

-RBP4chr10

95360559

-
intron-3CDSENST00000578109ENST00000371467PCGF2chr17

36891718

-RBP4chr10

95360559

-
intron-3CDSENST00000578109ENST00000371469PCGF2chr17

36891718

-RBP4chr10

95360559

-

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)

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

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Fusion Genomic Features for PCGF2-RBP4


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.

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.

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Fusion Protein Features for PCGF2-RBP4


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
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.
- 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


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Fusion Gene Sequence for PCGF2-RBP4


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.

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Fusion Gene PPI Analysis for PCGF2-RBP4


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 PCGF2-RBP4


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 PCGF2-RBP4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePCGF2C3714756Intellectual Disability2GENOMICS_ENGLAND
HgenePCGF2C0243050Cardiovascular Abnormalities1GENOMICS_ENGLAND
HgenePCGF2C0432072Dysmorphic features1GENOMICS_ENGLAND
HgenePCGF2C0557874Global developmental delay1GENOMICS_ENGLAND
HgenePCGF2C4021762Abnormality of the cerebrum1GENOMICS_ENGLAND
HgenePCGF2C4021790Abnormality of the skeletal system1GENOMICS_ENGLAND
TgeneRBP4C3554593RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneRBP4C0000786Spontaneous abortion1CTD_human
TgeneRBP4C0000822Abortion, Tubal1CTD_human
TgeneRBP4C0007097Carcinoma1CTD_human
TgeneRBP4C0018801Heart failure1CTD_human
TgeneRBP4C0018802Congestive heart failure1CTD_human
TgeneRBP4C0022658Kidney Diseases1CTD_human
TgeneRBP4C0023212Left-Sided Heart Failure1CTD_human
TgeneRBP4C0023896Alcoholic Liver Diseases1CTD_human
TgeneRBP4C0024623Malignant neoplasm of stomach1CTD_human
TgeneRBP4C0024667Animal Mammary Neoplasms1CTD_human
TgeneRBP4C0024668Mammary Neoplasms, Experimental1CTD_human
TgeneRBP4C0027540Necrosis1CTD_human
TgeneRBP4C0032460Polycystic Ovary Syndrome1CTD_human
TgeneRBP4C0038356Stomach Neoplasms1CTD_human
TgeneRBP4C0042842Vitamin A Deficiency1CTD_human
TgeneRBP4C0152455Keratomalacia1CTD_human
TgeneRBP4C0205696Anaplastic carcinoma1CTD_human
TgeneRBP4C0205697Carcinoma, Spindle-Cell1CTD_human
TgeneRBP4C0205698Undifferentiated carcinoma1CTD_human
TgeneRBP4C0205699Carcinomatosis1CTD_human
TgeneRBP4C0235527Heart Failure, Right-Sided1CTD_human
TgeneRBP4C0271271Xerotic keratitis1CTD_human
TgeneRBP4C0856901Retinol Deficiency1CTD_human
TgeneRBP4C1136382Sclerocystic Ovaries1CTD_human
TgeneRBP4C1257925Mammary Carcinoma, Animal1CTD_human
TgeneRBP4C1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneRBP4C1959583Myocardial Failure1CTD_human
TgeneRBP4C1961112Heart Decompensation1CTD_human
TgeneRBP4C2931501Microphthalmia associated with colobomatous cyst1ORPHANET
TgeneRBP4C3830362Early Pregnancy Loss1CTD_human
TgeneRBP4C4225330MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 101CTD_human;UNIPROT
TgeneRBP4C4552766Miscarriage1CTD_human