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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:IGF2R-PPAP2A

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: IGF2R-PPAP2A
FusionPDB ID: 38546
FusionGDB2.0 ID: 38546
HgeneTgene
Gene symbol

IGF2R

PPAP2A

Gene ID

3482

8611

Gene nameinsulin like growth factor 2 receptorphospholipid phosphatase 1
SynonymsCD222|CI-M6PR|CIMPR|M6P-R|M6P/IGF2R|MPR 300|MPR1|MPR300|MPRILLP1a|LPP1|PAP-2a|PAP2|PPAP2A
Cytomap

6q25.3

5q11.2

Type of geneprotein-codingprotein-coding
Descriptioncation-independent mannose-6-phosphate receptor300 kDa mannose 6-phosphate receptorCI Man-6-P receptorIGF-II receptorM6P/IGF2 receptorinsulin-like growth factor II receptorphospholipid phosphatase 1lipid phosphate phosphohydrolase 1aphosphatidate phosphohydrolase type 2aphosphatidic acid phosphatase 2aphosphatidic acid phosphatase type 2Aphosphatidic acid phosphohydrolase type 2atype-2 phosphatidic acid phosphatase al
Modification date2020031520200313
UniProtAcc

P11717

.
Ensembl transtripts involved in fusion geneENST idsENST00000356956, ENST00000475584, 
ENST00000515132, ENST00000264775, 
ENST00000307259, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score23 X 16 X 11=404810 X 5 X 6=300
# samples 2510
** MAII scorelog2(25/4048*10)=-4.01720929003222
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/300*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: IGF2R [Title/Abstract] AND PPAP2A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)IGF2R(160448346)-PPAP2A(54737736), # samples:2
Anticipated loss of major functional domain due to fusion event.IGF2R-PPAP2A 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.
IGF2R-PPAP2A 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.
IGF2R-PPAP2A 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.
IGF2R-PPAP2A 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
TgenePPAP2A

GO:0006644

phospholipid metabolic process

9305923|9705349|15461590

TgenePPAP2A

GO:0006670

sphingosine metabolic process

9705349

TgenePPAP2A

GO:0006672

ceramide metabolic process

9305923|9705349

TgenePPAP2A

GO:0046839

phospholipid dephosphorylation

9305923|9705349|15461590|16464866


check buttonFusion gene breakpoints across IGF2R (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 PPAP2A (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
ChimerDB4HNSCTCGA-DQ-7591IGF2Rchr6

160448346

+PPAP2Achr5

54737736

-


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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)
ENST00000356956IGF2Rchr6160448346+ENST00000264775PPAP2Achr554737736-1640924611287408
ENST00000356956IGF2Rchr6160448346+ENST00000307259PPAP2Achr554737736-1609924611287408

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
ENST00000356956ENST00000264775IGF2Rchr6160448346+PPAP2Achr554737736-0.0047654590.99523455
ENST00000356956ENST00000307259IGF2Rchr6160448346+PPAP2Achr554737736-0.0053580460.9946419

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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

>38546_38546_1_IGF2R-PPAP2A_IGF2R_chr6_160448346_ENST00000356956_PPAP2A_chr5_54737736_ENST00000264775_length(amino acids)=408AA_BP=287
MAARPRPGRGPQQSRAVSLAPAAQSGPGAMGAAAGRSPHLGPAPARRPQRSLLLLQLLLLVAAPGSTQAQAAPFPELCSYTWEAVDTKNN
VLYKINICGSVDIVQCGPSSAVCMHDLKTRTYHSVGDSVLRSATRSLLEFNTTVSCDQQGTNHRVQSSIAFLCGKTLGTPEFVTATECVH
YFEWRTTAACKKDIFKANKEVPCYVFDEELRKHDLNPLIKLSGAYLVDDSDPDTSLFINVCRDIDTLRDPGSQLRACPPGTAACLVRGHQ
AFDVGQPRDGLKLVRKDRLSFYSGHSSFSMYCMLFVALYLQARMKGDWARLLRPTLQFGLVAVSIYVGLSRVSDYKHHWSDVLTGLIQGA

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

>38546_38546_2_IGF2R-PPAP2A_IGF2R_chr6_160448346_ENST00000356956_PPAP2A_chr5_54737736_ENST00000307259_length(amino acids)=408AA_BP=287
MAARPRPGRGPQQSRAVSLAPAAQSGPGAMGAAAGRSPHLGPAPARRPQRSLLLLQLLLLVAAPGSTQAQAAPFPELCSYTWEAVDTKNN
VLYKINICGSVDIVQCGPSSAVCMHDLKTRTYHSVGDSVLRSATRSLLEFNTTVSCDQQGTNHRVQSSIAFLCGKTLGTPEFVTATECVH
YFEWRTTAACKKDIFKANKEVPCYVFDEELRKHDLNPLIKLSGAYLVDDSDPDTSLFINVCRDIDTLRDPGSQLRACPPGTAACLVRGHQ
AFDVGQPRDGLKLVRKDRLSFYSGHSSFSMYCMLFVALYLQARMKGDWARLLRPTLQFGLVAVSIYVGLSRVSDYKHHWSDVLTGLIQGA

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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/chr6:160448346/chr5:54737736)
- 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
IGF2R

P11717

.
FUNCTION: Mediates the transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes (PubMed:2963003, PubMed:18817523). Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelysosomal compartment where the low pH mediates the dissociation of the complex (PubMed:2963003, PubMed:18817523). The receptor is then recycled back to the Golgi for another round of trafficking through its binding to the retromer (PubMed:18817523). This receptor also binds IGF2 (PubMed:18046459). Acts as a positive regulator of T-cell coactivation by binding DPP4 (PubMed:10900005). {ECO:0000269|PubMed:10900005, ECO:0000269|PubMed:18046459, ECO:0000269|PubMed:18817523, ECO:0000269|PubMed:2963003}.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
HgeneIGF2Rchr6:160448346chr5:54737736ENST00000356956+64847_163258.66666666666672492.0DomainMRH 1
TgenePPAP2Achr6:160448346chr5:54737736ENST0000026477526168_171164.66666666666666286.0RegionPhosphatase sequence motif II
TgenePPAP2Achr6:160448346chr5:54737736ENST0000026477526216_227164.66666666666666286.0RegionPhosphatase sequence motif III
TgenePPAP2Achr6:160448346chr5:54737736ENST0000030725926168_171163.66666666666666285.0RegionPhosphatase sequence motif II
TgenePPAP2Achr6:160448346chr5:54737736ENST0000030725926216_227163.66666666666666285.0RegionPhosphatase sequence motif III
TgenePPAP2Achr6:160448346chr5:54737736ENST0000026477526186_199164.66666666666666286.0Topological domainCytoplasmic
TgenePPAP2Achr6:160448346chr5:54737736ENST0000026477526221_229164.66666666666666286.0Topological domainExtracellular
TgenePPAP2Achr6:160448346chr5:54737736ENST0000026477526251_284164.66666666666666286.0Topological domainCytoplasmic
TgenePPAP2Achr6:160448346chr5:54737736ENST0000030725926186_199163.66666666666666285.0Topological domainCytoplasmic
TgenePPAP2Achr6:160448346chr5:54737736ENST0000030725926221_229163.66666666666666285.0Topological domainExtracellular
TgenePPAP2Achr6:160448346chr5:54737736ENST0000030725926251_284163.66666666666666285.0Topological domainCytoplasmic
TgenePPAP2Achr6:160448346chr5:54737736ENST0000026477526165_185164.66666666666666286.0TransmembraneHelical
TgenePPAP2Achr6:160448346chr5:54737736ENST0000026477526200_220164.66666666666666286.0TransmembraneHelical
TgenePPAP2Achr6:160448346chr5:54737736ENST0000026477526230_250164.66666666666666286.0TransmembraneHelical
TgenePPAP2Achr6:160448346chr5:54737736ENST0000030725926165_185163.66666666666666285.0TransmembraneHelical
TgenePPAP2Achr6:160448346chr5:54737736ENST0000030725926200_220163.66666666666666285.0TransmembraneHelical
TgenePPAP2Achr6:160448346chr5:54737736ENST0000030725926230_250163.66666666666666285.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneIGF2Rchr6:160448346chr5:54737736ENST00000356956+6481082_1219258.66666666666672492.0DomainMRH 8
HgeneIGF2Rchr6:160448346chr5:54737736ENST00000356956+6481225_1363258.66666666666672492.0DomainMRH 9
HgeneIGF2Rchr6:160448346chr5:54737736ENST00000356956+6481367_1508258.66666666666672492.0DomainMRH 10
HgeneIGF2Rchr6:160448346chr5:54737736ENST00000356956+6481514_1648258.66666666666672492.0DomainMRH 11
HgeneIGF2Rchr6:160448346chr5:54737736ENST00000356956+6481650_1797258.66666666666672492.0DomainMRH 12
HgeneIGF2Rchr6:160448346chr5:54737736ENST00000356956+648172_320258.66666666666672492.0DomainMRH 2
HgeneIGF2Rchr6:160448346chr5:54737736ENST00000356956+6481802_1989258.66666666666672492.0DomainFibronectin type-II
HgeneIGF2Rchr6:160448346chr5:54737736ENST00000356956+6481992_2127258.66666666666672492.0DomainMRH 14
HgeneIGF2Rchr6:160448346chr5:54737736ENST00000356956+6482135_2280258.66666666666672492.0DomainMRH 15
HgeneIGF2Rchr6:160448346chr5:54737736ENST00000356956+648326_468258.66666666666672492.0DomainMRH 3
HgeneIGF2Rchr6:160448346chr5:54737736ENST00000356956+648473_619258.66666666666672492.0DomainMRH 4
HgeneIGF2Rchr6:160448346chr5:54737736ENST00000356956+648625_762258.66666666666672492.0DomainMRH 5
HgeneIGF2Rchr6:160448346chr5:54737736ENST00000356956+648765_924258.66666666666672492.0DomainMRH 6
HgeneIGF2Rchr6:160448346chr5:54737736ENST00000356956+648932_1079258.66666666666672492.0DomainMRH 7
HgeneIGF2Rchr6:160448346chr5:54737736ENST00000356956+6482328_2491258.66666666666672492.0Topological domainCytoplasmic
HgeneIGF2Rchr6:160448346chr5:54737736ENST00000356956+64841_2304258.66666666666672492.0Topological domainLumenal
HgeneIGF2Rchr6:160448346chr5:54737736ENST00000356956+6482305_2327258.66666666666672492.0TransmembraneHelical
TgenePPAP2Achr6:160448346chr5:54737736ENST00000264775265_7164.66666666666666286.0MotifPDZ-binding%3B involved in localization to the apical cell membrane
TgenePPAP2Achr6:160448346chr5:54737736ENST00000307259265_7163.66666666666666285.0MotifPDZ-binding%3B involved in localization to the apical cell membrane
TgenePPAP2Achr6:160448346chr5:54737736ENST0000026477526120_128164.66666666666666286.0RegionPhosphatase sequence motif I
TgenePPAP2Achr6:160448346chr5:54737736ENST0000030725926120_128163.66666666666666285.0RegionPhosphatase sequence motif I
TgenePPAP2Achr6:160448346chr5:54737736ENST0000026477526116_164164.66666666666666286.0Topological domainExtracellular
TgenePPAP2Achr6:160448346chr5:54737736ENST00000264775261_6164.66666666666666286.0Topological domainCytoplasmic
TgenePPAP2Achr6:160448346chr5:54737736ENST000002647752628_53164.66666666666666286.0Topological domainExtracellular
TgenePPAP2Achr6:160448346chr5:54737736ENST000002647752675_94164.66666666666666286.0Topological domainCytoplasmic
TgenePPAP2Achr6:160448346chr5:54737736ENST0000030725926116_164163.66666666666666285.0Topological domainExtracellular
TgenePPAP2Achr6:160448346chr5:54737736ENST00000307259261_6163.66666666666666285.0Topological domainCytoplasmic
TgenePPAP2Achr6:160448346chr5:54737736ENST000003072592628_53163.66666666666666285.0Topological domainExtracellular
TgenePPAP2Achr6:160448346chr5:54737736ENST000003072592675_94163.66666666666666285.0Topological domainCytoplasmic
TgenePPAP2Achr6:160448346chr5:54737736ENST000002647752654_74164.66666666666666286.0TransmembraneHelical
TgenePPAP2Achr6:160448346chr5:54737736ENST00000264775267_27164.66666666666666286.0TransmembraneHelical
TgenePPAP2Achr6:160448346chr5:54737736ENST000002647752695_115164.66666666666666286.0TransmembraneHelical
TgenePPAP2Achr6:160448346chr5:54737736ENST000003072592654_74163.66666666666666285.0TransmembraneHelical
TgenePPAP2Achr6:160448346chr5:54737736ENST00000307259267_27163.66666666666666285.0TransmembraneHelical
TgenePPAP2Achr6:160448346chr5:54737736ENST000003072592695_115163.66666666666666285.0TransmembraneHelical


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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
IGF2R
PPAP2A


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 IGF2R-PPAP2A


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 IGF2R-PPAP2A


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