UTHEALTH HOME    ABOUT SBMI    A-Z    WEBMAIL    INSIDE THE UNIVERSITY
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use

Center for Computational Systems Medicine level1
leaf

Fusion Gene Summary

leaf

Fusion Gene Sample Information

leaf

Fusion ORF Analysis

leaf

Fusion Amino Acid Sequences

leaf

Fusion Protein Functional Features

leaf

Fusion Protein-Protein Interaction

leaf

Related drugs with this fusion protein

leaf

Related disease with this fusion protein

Fusion Protein:APC-REEP2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: APC-REEP2
FusionPDB ID: 5388
FusionGDB2.0 ID: 5388
HgeneTgene
Gene symbol

APC

REEP2

Gene ID

5624

51308

Gene nameprotein C, inactivator of coagulation factors Va and VIIIareceptor accessory protein 2
SynonymsAPC|PC|PROC1|THPH3|THPH4C5orf19|SGC32445|SPG72|Yip2d
Cytomap

2q14.3

5q31.2

Type of geneprotein-codingprotein-coding
Descriptionvitamin K-dependent protein CProtein C-Nagoyaactivated protein Canticoagulant protein Cautoprothrombin IIAblood coagulation factor XIVprepro-protein Ctype I protein Creceptor expression-enhancing protein 2
Modification date2020031320200313
UniProtAcc

P02743

.
Ensembl transtripts involved in fusion geneENST idsENST00000257430, ENST00000457016, 
ENST00000508376, ENST00000505350, 
ENST00000464751, ENST00000378339, 
ENST00000506158, ENST00000254901, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score14 X 10 X 8=11203 X 4 X 3=36
# samples 144
** MAII scorelog2(14/1120*10)=-3
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

PubMed: APC [Title/Abstract] AND REEP2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)APC(112137080)-REEP2(137781372), # samples:2
Anticipated loss of major functional domain due to fusion event.APC-REEP2 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.
APC-REEP2 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.
APC-REEP2 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
APC-REEP2 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
APC-REEP2 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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

check buttonFusion gene breakpoints across APC (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 REEP2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


Top

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
ChimerDB4ACCTCGA-OR-A5JX-01AAPCchr5

112137080

-REEP2chr5

137781372

+
ChimerDB4ACCTCGA-OR-A5JX-01AAPCchr5

112137080

+REEP2chr5

137781372

+


Top

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)
ENST00000457016APCchr5112137080+ENST00000254901REEP2chr5137781372+250112143801282300
ENST00000257430APCchr5112137080+ENST00000254901REEP2chr5137781372+217789056958300
ENST00000508376APCchr5112137080+ENST00000254901REEP2chr5137781372+22789911571059300

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
ENST00000457016ENST00000254901APCchr5112137080+REEP2chr5137781372+0.0073621170.9926379
ENST00000257430ENST00000254901APCchr5112137080+REEP2chr5137781372+0.0066100640.99338996
ENST00000508376ENST00000254901APCchr5112137080+REEP2chr5137781372+0.0063429540.99365705

Top

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

>5388_5388_1_APC-REEP2_APC_chr5_112137080_ENST00000257430_REEP2_chr5_137781372_ENST00000254901_length(amino acids)=300AA_BP=277
MAAASYDQLLKQVEALKMENSNLRQELEDNSNHLTKLETEASNMKEVLKQLQGSIEDEAMASSGQIDLLERLKELNLDSSNFPGVKLRSK
MSLRSYGSREGSVSSRSGECSPVPMGSFPRRGFVNGSRESTGYLEELEKERSLLLADLDKEEKEKDWYYAQLQNLTKRIDSLPLTENFSL
QTDMTRRQLEYEARQIRVAMEEQLGTCQDMEKRAQRRIARIQQIEKDILRIRQLLQSQATEAERSSQNKHETGSHDAERQNEGQGVGEIN

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

>5388_5388_2_APC-REEP2_APC_chr5_112137080_ENST00000457016_REEP2_chr5_137781372_ENST00000254901_length(amino acids)=300AA_BP=277
MAAASYDQLLKQVEALKMENSNLRQELEDNSNHLTKLETEASNMKEVLKQLQGSIEDEAMASSGQIDLLERLKELNLDSSNFPGVKLRSK
MSLRSYGSREGSVSSRSGECSPVPMGSFPRRGFVNGSRESTGYLEELEKERSLLLADLDKEEKEKDWYYAQLQNLTKRIDSLPLTENFSL
QTDMTRRQLEYEARQIRVAMEEQLGTCQDMEKRAQRRIARIQQIEKDILRIRQLLQSQATEAERSSQNKHETGSHDAERQNEGQGVGEIN

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

>5388_5388_3_APC-REEP2_APC_chr5_112137080_ENST00000508376_REEP2_chr5_137781372_ENST00000254901_length(amino acids)=300AA_BP=277
MAAASYDQLLKQVEALKMENSNLRQELEDNSNHLTKLETEASNMKEVLKQLQGSIEDEAMASSGQIDLLERLKELNLDSSNFPGVKLRSK
MSLRSYGSREGSVSSRSGECSPVPMGSFPRRGFVNGSRESTGYLEELEKERSLLLADLDKEEKEKDWYYAQLQNLTKRIDSLPLTENFSL
QTDMTRRQLEYEARQIRVAMEEQLGTCQDMEKRAQRRIARIQQIEKDILRIRQLLQSQATEAERSSQNKHETGSHDAERQNEGQGVGEIN

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

Top

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/chr5:112137080/chr5:137781372)
- 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
APC

P02743

.
FUNCTION: Can interact with DNA and histones and may scavenge nuclear material released from damaged circulating cells. May also function as a calcium-dependent lectin.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
HgeneAPCchr5:112137080chr5:137781372ENST00000257430+816127_248278.02844.0Coiled coilOntology_term=ECO:0000255
HgeneAPCchr5:112137080chr5:137781372ENST00000257430+8162_61278.02844.0Coiled coilOntology_term=ECO:0000255
HgeneAPCchr5:112137080chr5:137781372ENST00000457016+816127_248278.02844.0Coiled coilOntology_term=ECO:0000255
HgeneAPCchr5:112137080chr5:137781372ENST00000457016+8162_61278.02844.0Coiled coilOntology_term=ECO:0000255
HgeneAPCchr5:112137080chr5:137781372ENST00000508376+917127_248278.02844.0Coiled coilOntology_term=ECO:0000255
HgeneAPCchr5:112137080chr5:137781372ENST00000508376+9172_61278.02844.0Coiled coilOntology_term=ECO:0000255

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAPCchr5:112137080chr5:137781372ENST00000257430+8161131_1156278.02844.0Compositional biasNote=Asp/Glu-rich (acidic)
HgeneAPCchr5:112137080chr5:137781372ENST00000257430+8161558_1577278.02844.0Compositional biasNote=Asp/Glu-rich (acidic)
HgeneAPCchr5:112137080chr5:137781372ENST00000257430+8161_730278.02844.0Compositional biasNote=Leu-rich
HgeneAPCchr5:112137080chr5:137781372ENST00000257430+816731_2832278.02844.0Compositional biasNote=Ser-rich
HgeneAPCchr5:112137080chr5:137781372ENST00000457016+8161131_1156278.02844.0Compositional biasNote=Asp/Glu-rich (acidic)
HgeneAPCchr5:112137080chr5:137781372ENST00000457016+8161558_1577278.02844.0Compositional biasNote=Asp/Glu-rich (acidic)
HgeneAPCchr5:112137080chr5:137781372ENST00000457016+8161_730278.02844.0Compositional biasNote=Leu-rich
HgeneAPCchr5:112137080chr5:137781372ENST00000457016+816731_2832278.02844.0Compositional biasNote=Ser-rich
HgeneAPCchr5:112137080chr5:137781372ENST00000508376+9171131_1156278.02844.0Compositional biasNote=Asp/Glu-rich (acidic)
HgeneAPCchr5:112137080chr5:137781372ENST00000508376+9171558_1577278.02844.0Compositional biasNote=Asp/Glu-rich (acidic)
HgeneAPCchr5:112137080chr5:137781372ENST00000508376+9171_730278.02844.0Compositional biasNote=Leu-rich
HgeneAPCchr5:112137080chr5:137781372ENST00000508376+917731_2832278.02844.0Compositional biasNote=Ser-rich
HgeneAPCchr5:112137080chr5:137781372ENST00000257430+8162803_2806278.02844.0MotifNote=Microtubule tip localization signal
HgeneAPCchr5:112137080chr5:137781372ENST00000257430+8162841_2843278.02844.0MotifNote=PDZ-binding
HgeneAPCchr5:112137080chr5:137781372ENST00000457016+8162803_2806278.02844.0MotifNote=Microtubule tip localization signal
HgeneAPCchr5:112137080chr5:137781372ENST00000457016+8162841_2843278.02844.0MotifNote=PDZ-binding
HgeneAPCchr5:112137080chr5:137781372ENST00000508376+9172803_2806278.02844.0MotifNote=Microtubule tip localization signal
HgeneAPCchr5:112137080chr5:137781372ENST00000508376+9172841_2843278.02844.0MotifNote=PDZ-binding
HgeneAPCchr5:112137080chr5:137781372ENST00000257430+8161866_1893278.02844.0RegionNote=Highly charged
HgeneAPCchr5:112137080chr5:137781372ENST00000257430+816960_1337278.02844.0RegionNote=Responsible for down-regulation through a process mediated by direct ubiquitination
HgeneAPCchr5:112137080chr5:137781372ENST00000457016+8161866_1893278.02844.0RegionNote=Highly charged
HgeneAPCchr5:112137080chr5:137781372ENST00000457016+816960_1337278.02844.0RegionNote=Responsible for down-regulation through a process mediated by direct ubiquitination
HgeneAPCchr5:112137080chr5:137781372ENST00000508376+9171866_1893278.02844.0RegionNote=Highly charged
HgeneAPCchr5:112137080chr5:137781372ENST00000508376+917960_1337278.02844.0RegionNote=Responsible for down-regulation through a process mediated by direct ubiquitination
HgeneAPCchr5:112137080chr5:137781372ENST00000257430+816453_495278.02844.0RepeatNote=ARM 1
HgeneAPCchr5:112137080chr5:137781372ENST00000257430+816505_547278.02844.0RepeatNote=ARM 2
HgeneAPCchr5:112137080chr5:137781372ENST00000257430+816548_591278.02844.0RepeatNote=ARM 3
HgeneAPCchr5:112137080chr5:137781372ENST00000257430+816592_638278.02844.0RepeatNote=ARM 4
HgeneAPCchr5:112137080chr5:137781372ENST00000257430+816639_683278.02844.0RepeatNote=ARM 5
HgeneAPCchr5:112137080chr5:137781372ENST00000257430+816684_725278.02844.0RepeatNote=ARM 6
HgeneAPCchr5:112137080chr5:137781372ENST00000257430+816726_767278.02844.0RepeatNote=ARM 7
HgeneAPCchr5:112137080chr5:137781372ENST00000457016+816453_495278.02844.0RepeatNote=ARM 1
HgeneAPCchr5:112137080chr5:137781372ENST00000457016+816505_547278.02844.0RepeatNote=ARM 2
HgeneAPCchr5:112137080chr5:137781372ENST00000457016+816548_591278.02844.0RepeatNote=ARM 3
HgeneAPCchr5:112137080chr5:137781372ENST00000457016+816592_638278.02844.0RepeatNote=ARM 4
HgeneAPCchr5:112137080chr5:137781372ENST00000457016+816639_683278.02844.0RepeatNote=ARM 5
HgeneAPCchr5:112137080chr5:137781372ENST00000457016+816684_725278.02844.0RepeatNote=ARM 6
HgeneAPCchr5:112137080chr5:137781372ENST00000457016+816726_767278.02844.0RepeatNote=ARM 7
HgeneAPCchr5:112137080chr5:137781372ENST00000508376+917453_495278.02844.0RepeatNote=ARM 1
HgeneAPCchr5:112137080chr5:137781372ENST00000508376+917505_547278.02844.0RepeatNote=ARM 2
HgeneAPCchr5:112137080chr5:137781372ENST00000508376+917548_591278.02844.0RepeatNote=ARM 3
HgeneAPCchr5:112137080chr5:137781372ENST00000508376+917592_638278.02844.0RepeatNote=ARM 4
HgeneAPCchr5:112137080chr5:137781372ENST00000508376+917639_683278.02844.0RepeatNote=ARM 5
HgeneAPCchr5:112137080chr5:137781372ENST00000508376+917684_725278.02844.0RepeatNote=ARM 6
HgeneAPCchr5:112137080chr5:137781372ENST00000508376+917726_767278.02844.0RepeatNote=ARM 7
TgeneREEP2chr5:112137080chr5:137781372ENST00000254901681_21230.0253.0TransmembraneHelical
TgeneREEP2chr5:112137080chr5:137781372ENST000002549016835_55230.0253.0TransmembraneHelical
TgeneREEP2chr5:112137080chr5:137781372ENST00000378339681_21232.0255.0TransmembraneHelical
TgeneREEP2chr5:112137080chr5:137781372ENST000003783396835_55232.0255.0TransmembraneHelical


Top

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
APC
REEP2


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


Top

Related Drugs to APC-REEP2


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

Top

Related Diseases to APC-REEP2


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