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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:PPAT-IGFBP7

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: PPAT-IGFBP7
FusionPDB ID: 67356
FusionGDB2.0 ID: 67356
HgeneTgene
Gene symbol

PPAT

IGFBP7

Gene ID

80347

3490

Gene nameCoenzyme A synthaseinsulin like growth factor binding protein 7
SynonymsDPCK|NBIA6|NBP|PCH12|PPAT|UKR1|pOV-2AGM|FSTL2|IBP-7|IGFBP-7|IGFBP-7v|IGFBPRP1|MAC25|PSF|RAMSVPS|TAF
Cytomap

17q21.2

4q12

Type of geneprotein-codingprotein-coding
Descriptionbifunctional coenzyme A synthaseCoA synthasebifunctional phosphopantetheine adenylyl transferase/dephospho CoA kinasenucleotide binding proteinphosphopantetheine adenylyltransferase / dephosphocoenzyme A kinaseinsulin-like growth factor-binding protein 7IGF-binding protein 7IGFBP-rP1PGI2-stimulating factorangiomodulinprostacyclin-stimulating factortumor-derived adhesion factor
Modification date2020031320200313
UniProtAcc.

Q16270

Ensembl transtripts involved in fusion geneENST idsENST00000264220, ENST00000507648, 
ENST00000512512, ENST00000295666, 
ENST00000537922, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score4 X 3 X 4=489 X 8 X 4=288
# samples 49
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/288*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: PPAT [Title/Abstract] AND IGFBP7 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)PPAT(57267496)-IGFBP7(57907099), # samples:1
Anticipated loss of major functional domain due to fusion event.PPAT-IGFBP7 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.
PPAT-IGFBP7 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.
PPAT-IGFBP7 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.
PPAT-IGFBP7 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
HgenePPAT

GO:0015937

coenzyme A biosynthetic process

11923312

TgeneIGFBP7

GO:0007155

cell adhesion

8117260


check buttonFusion gene breakpoints across PPAT (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 IGFBP7 (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
ChimerDB4PAADTCGA-HZ-A4BH-01APPATchr4

57267496

-IGFBP7chr4

57907099

-


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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)
ENST00000264220PPATchr457267496-ENST00000295666IGFBP7chr457907099-19421024511397448
ENST00000264220PPATchr457267496-ENST00000537922IGFBP7chr457907099-17661024511388445

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
ENST00000264220ENST00000295666PPATchr457267496-IGFBP7chr457907099-0.000454190.99954575
ENST00000264220ENST00000537922PPATchr457267496-IGFBP7chr457907099-0.0003946430.99960536

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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

>67356_67356_1_PPAT-IGFBP7_PPAT_chr4_57267496_ENST00000264220_IGFBP7_chr4_57907099_ENST00000295666_length(amino acids)=448AA_BP=324
MSSTGRAGSWLVLTPWPQRQVLPRAFGGDMELEELGIREECGVFGCIASGEWPTQLDVPHVITLGLVGLQHRGQESAGIVTSDGSSVPTF
KSHKGMGLVNHVFTEDNLKKLYVSNLGIGHTRYATTGKCELENCQPFVVETLHGKIAVAHNGELVNAARLRKKLLRHGIGLSTSSDSEMI
TQLLAYTPPQEQDDTPDWVARIKNLMKEAPTAYSLLIMHRDVIYAVRDPYGNRPLCIGRLIPVSDINDKEKKTSETEGWVVSSESCSFLS
IGARYYREVLPGEIVEISRHNVQTLDIISRSEGNPVAFCIFEYVYFARPDSMFEGPSIVTPPKDIWNVTGAQVYLSCEVIGIPTPVLIWN

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

>67356_67356_2_PPAT-IGFBP7_PPAT_chr4_57267496_ENST00000264220_IGFBP7_chr4_57907099_ENST00000537922_length(amino acids)=445AA_BP=324
MSSTGRAGSWLVLTPWPQRQVLPRAFGGDMELEELGIREECGVFGCIASGEWPTQLDVPHVITLGLVGLQHRGQESAGIVTSDGSSVPTF
KSHKGMGLVNHVFTEDNLKKLYVSNLGIGHTRYATTGKCELENCQPFVVETLHGKIAVAHNGELVNAARLRKKLLRHGIGLSTSSDSEMI
TQLLAYTPPQEQDDTPDWVARIKNLMKEAPTAYSLLIMHRDVIYAVRDPYGNRPLCIGRLIPVSDINDKEKKTSETEGWVVSSESCSFLS
IGARYYREVLPGEIVEISRHNVQTLDIISRSEGNPVAFCIFEYVYFARPDSMFEGPSIVTPPKDIWNVTGAQVYLSCEVIGIPTPVLIWN

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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/chr4:57267496/chr4:57907099)
- 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
.IGFBP7

Q16270

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: Binds IGF-I and IGF-II with a relatively low affinity. Stimulates prostacyclin (PGI2) production. Stimulates cell adhesion. {ECO:0000269|PubMed:8117260, ECO:0000269|PubMed:8939990}.

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
HgenePPATchr4:57267496chr4:57907099ENST00000264220-71112_261295.3333333333333518.0DomainGlutamine amidotransferase type-2
TgeneIGFBP7chr4:57267496chr4:57907099ENST0000029566605160_264158.33333333333334283.0DomainNote=Ig-like C2-type
TgeneIGFBP7chr4:57267496chr4:57907099ENST0000053792204160_264158.33333333333334280.0DomainNote=Ig-like C2-type

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneIGFBP7chr4:57267496chr4:57907099ENST0000029566605105_158158.33333333333334283.0DomainKazal-like
TgeneIGFBP7chr4:57267496chr4:57907099ENST000002956660528_106158.33333333333334283.0DomainIGFBP N-terminal
TgeneIGFBP7chr4:57267496chr4:57907099ENST0000053792204105_158158.33333333333334280.0DomainKazal-like
TgeneIGFBP7chr4:57267496chr4:57907099ENST000005379220428_106158.33333333333334280.0DomainIGFBP N-terminal


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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
PPAT
IGFBP7


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 PPAT-IGFBP7


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 PPAT-IGFBP7


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