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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:PPAT-IGFBP7 (FusionGDB2 ID:66938)

Fusion Gene Summary for PPAT-IGFBP7

check button Fusion gene summary
Fusion gene informationFusion gene name: PPAT-IGFBP7
Fusion gene ID: 66938
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 geneENST00000264220, ENST00000507648, 
ENST00000295666, ENST00000537922, 
ENST00000512512, 
Fusion gene scores* 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

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

Most frequent breakpointPPAT(57267496)-IGFBP7(57907099), # 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
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.

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.

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 Gene ORF analysis for PPAT-IGFBP7

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
In-frameENST00000264220ENST00000295666PPATchr4

57267496

-IGFBP7chr4

57907099

-
In-frameENST00000264220ENST00000537922PPATchr4

57267496

-IGFBP7chr4

57907099

-
5CDS-5UTRENST00000264220ENST00000512512PPATchr4

57267496

-IGFBP7chr4

57907099

-
intron-3CDSENST00000507648ENST00000295666PPATchr4

57267496

-IGFBP7chr4

57907099

-
intron-3CDSENST00000507648ENST00000537922PPATchr4

57267496

-IGFBP7chr4

57907099

-
intron-5UTRENST00000507648ENST00000512512PPATchr4

57267496

-IGFBP7chr4

57907099

-

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)
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 Genomic Features for PPAT-IGFBP7


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 PPAT-IGFBP7


check button Go to

FGviewer for the breakpoints of 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.
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.
- In-frame and 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

- In-frame and 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 Gene Sequence for PPAT-IGFBP7


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.
>In-frame_ENST00000264220_ENST00000295666_TCGA-HZ-A4BH-01A_PPAT_chr4_57267496_-_IGFBP7_chr4_57907099_length(transcript)=1942nt_BP=1024nt
AGTAGCTGGGGCCACCCTCGGGAAGGAAGAGCCTGTCGCGAGCGCGAGCTTCTGAGCTCGACGGGCCGAGCTGGCAGCTGGTTGGTGCTT
ACACCTTGGCCGCAGCGGCAGGTCCTTCCACGTGCTTTCGGCGGCGACATGGAGCTGGAGGAGTTGGGGATCCGAGAGGAATGTGGCGTG
TTCGGGTGCATCGCCTCAGGAGAGTGGCCCACGCAGCTGGATGTACCGCATGTGATCACTCTGGGACTCGTGGGGCTGCAGCACCGGGGT
CAGGAGAGTGCTGGTATTGTGACTAGTGATGGGAGTTCGGTGCCAACATTCAAATCACACAAGGGAATGGGTCTTGTAAATCACGTCTTT
ACTGAAGACAATTTGAAAAAATTATATGTTTCAAATCTTGGAATTGGACACACCAGGTATGCCACCACAGGAAAATGTGAACTAGAAAAT
TGTCAGCCCTTCGTTGTTGAAACACTTCATGGGAAGATAGCTGTGGCACATAATGGCGAATTGGTAAATGCTGCTCGATTAAGGAAAAAG
CTTCTGCGTCATGGTATTGGTCTGTCTACAAGTTCTGATAGTGAAATGATTACCCAGTTACTGGCGTATACCCCTCCTCAGGAACAAGAT
GACACCCCAGACTGGGTAGCCAGGATTAAAAACTTGATGAAGGAAGCACCCACAGCATACTCCCTGCTTATAATGCACAGAGATGTTATT
TATGCAGTACGAGATCCTTATGGAAATCGTCCCTTATGCATTGGTCGTCTTATTCCAGTGTCTGATATAAATGACAAAGAGAAAAAAACA
TCAGAAACAGAAGGATGGGTGGTGTCTTCAGAATCTTGTAGCTTCTTATCTATTGGTGCAAGATATTACCGTGAAGTCTTGCCTGGAGAA
ATTGTGGAAATATCCAGACACAATGTCCAAACTCTTGATATTATATCAAGGTCTGAAGGAAACCCAGTGGCTTTTTGTATCTTTGAATAT
GTTTATTTTGCAAGACCAGACAGTATGTTCGAAGGTCCTTCCATAGTGACGCCCCCCAAGGACATCTGGAATGTCACTGGTGCCCAGGTG
TACTTGAGCTGTGAGGTCATCGGAATCCCGACACCTGTCCTCATCTGGAACAAGGTAAAAAGGGGTCACTATGGAGTTCAAAGGACAGAA
CTCCTGCCTGGTGACCGGGACAACCTGGCCATTCAGACCCGGGGTGGCCCAGAAAAGCATGAAGTAACTGGCTGGGTGCTGGTATCTCCT
CTAAGTAAGGAAGATGCTGGAGAATATGAGTGCCATGCATCCAATTCCCAAGGACAGGCTTCAGCATCAGCAAAAATTACAGTGGTTGAT
GCCTTACATGAAATACCAGTGAAAAAAGGTGAAGGTGCCGAGCTATAAACCTCCAGAATATTATTAGTCTGCATGGTTAAAAGTAGTCAT
GGATAACTACATTACCTGTTCTTGCCTAATAAGTTTCTTTTAATCCAATCCACTAACACTTTAGTTATATTCACTGGTTTTACACAGAGA
AATACAAAATAAAGATCACACATCAAGACTATCTACAAAAATTTATTATATATTTACAGAAGAAAAGCATGCATATCATTAAACAAATAA
AATACTTTTTATCACAACACAGTACATATTTGTCATTTTTAAAAAGCCACACAATAGAAACAAGACACCAAGATATTTAATTATCTTGTT
GACTCCTGTAAAATAGCTAAACACTCATCATTCGCGGTGCAATACTCATAGACATAAGTTCCTGAAACAATAGTTTGCATGCGTAAGGCA
TTCGCACCAAAGAAATCTGAAAAGAAAAAACAAATGGTAATTAGCAGAATTGTATTGAAGTGACCCCACTTCTCTACCCCAGAAAAAGAC

>In-frame_ENST00000264220_ENST00000295666_TCGA-HZ-A4BH-01A_PPAT_chr4_57267496_-_IGFBP7_chr4_57907099_length(amino acids)=448AA_start in transcript=51_stop in transcript=1397
MSSTGRAGSWLVLTPWPQRQVLPRAFGGDMELEELGIREECGVFGCIASGEWPTQLDVPHVITLGLVGLQHRGQESAGIVTSDGSSVPTF
KSHKGMGLVNHVFTEDNLKKLYVSNLGIGHTRYATTGKCELENCQPFVVETLHGKIAVAHNGELVNAARLRKKLLRHGIGLSTSSDSEMI
TQLLAYTPPQEQDDTPDWVARIKNLMKEAPTAYSLLIMHRDVIYAVRDPYGNRPLCIGRLIPVSDINDKEKKTSETEGWVVSSESCSFLS
IGARYYREVLPGEIVEISRHNVQTLDIISRSEGNPVAFCIFEYVYFARPDSMFEGPSIVTPPKDIWNVTGAQVYLSCEVIGIPTPVLIWN

--------------------------------------------------------------
>In-frame_ENST00000264220_ENST00000537922_TCGA-HZ-A4BH-01A_PPAT_chr4_57267496_-_IGFBP7_chr4_57907099_length(transcript)=1766nt_BP=1024nt
AGTAGCTGGGGCCACCCTCGGGAAGGAAGAGCCTGTCGCGAGCGCGAGCTTCTGAGCTCGACGGGCCGAGCTGGCAGCTGGTTGGTGCTT
ACACCTTGGCCGCAGCGGCAGGTCCTTCCACGTGCTTTCGGCGGCGACATGGAGCTGGAGGAGTTGGGGATCCGAGAGGAATGTGGCGTG
TTCGGGTGCATCGCCTCAGGAGAGTGGCCCACGCAGCTGGATGTACCGCATGTGATCACTCTGGGACTCGTGGGGCTGCAGCACCGGGGT
CAGGAGAGTGCTGGTATTGTGACTAGTGATGGGAGTTCGGTGCCAACATTCAAATCACACAAGGGAATGGGTCTTGTAAATCACGTCTTT
ACTGAAGACAATTTGAAAAAATTATATGTTTCAAATCTTGGAATTGGACACACCAGGTATGCCACCACAGGAAAATGTGAACTAGAAAAT
TGTCAGCCCTTCGTTGTTGAAACACTTCATGGGAAGATAGCTGTGGCACATAATGGCGAATTGGTAAATGCTGCTCGATTAAGGAAAAAG
CTTCTGCGTCATGGTATTGGTCTGTCTACAAGTTCTGATAGTGAAATGATTACCCAGTTACTGGCGTATACCCCTCCTCAGGAACAAGAT
GACACCCCAGACTGGGTAGCCAGGATTAAAAACTTGATGAAGGAAGCACCCACAGCATACTCCCTGCTTATAATGCACAGAGATGTTATT
TATGCAGTACGAGATCCTTATGGAAATCGTCCCTTATGCATTGGTCGTCTTATTCCAGTGTCTGATATAAATGACAAAGAGAAAAAAACA
TCAGAAACAGAAGGATGGGTGGTGTCTTCAGAATCTTGTAGCTTCTTATCTATTGGTGCAAGATATTACCGTGAAGTCTTGCCTGGAGAA
ATTGTGGAAATATCCAGACACAATGTCCAAACTCTTGATATTATATCAAGGTCTGAAGGAAACCCAGTGGCTTTTTGTATCTTTGAATAT
GTTTATTTTGCAAGACCAGACAGTATGTTCGAAGGTCCTTCCATAGTGACGCCCCCCAAGGACATCTGGAATGTCACTGGTGCCCAGGTG
TACTTGAGCTGTGAGGTCATCGGAATCCCGACACCTGTCCTCATCTGGAACAAGGTAAAAAGGGGTCACTATGGAGTTCAAAGGACAGAA
CTCCTGCCTGGTGACCGGGACAACCTGGCCATTCAGACCCGGGGTGGCCCAGAAAAGCATGAAGTAACTGGCTGGGTGCTGGTATCTCCT
CTAAGTAAGGAAGATGCTGGAGAATATGAGTGCCATGCATCCAATTCCCAAGGACAGGCTTCAGCATCAGCAAAAATTACAGTGGTTGAT
GCCTTACATGAAATACCAGTGAAAAAAGGTACACAATAAATCTCACAGCCATTTAAAAATGACTAGTACATTTGCTTTAAAAAGAACAGA
ACTAAGTATGAAAGTATCAGACGTAGCTATTGATGAAATTCTGTAGTTAGCAACCCATAAGGGCATTAAGTATGCCATTAAAATGTACAG
CATGAGACTCCAAAAGATTATCTGGATGGGTGACTGAACATCGTTATTATGACTTAGATGCTTTTACCTTATCTAACATGTAAGAGTCAA
AATCAAACTTGCCTGGAATGGCTTCTATTTCCCATAGCTTTCTACCTATCTACTTGGCATTTTCCCTTTGTGTTGTGACTATTAAATTCC

>In-frame_ENST00000264220_ENST00000537922_TCGA-HZ-A4BH-01A_PPAT_chr4_57267496_-_IGFBP7_chr4_57907099_length(amino acids)=445AA_start in transcript=51_stop in transcript=1388
MSSTGRAGSWLVLTPWPQRQVLPRAFGGDMELEELGIREECGVFGCIASGEWPTQLDVPHVITLGLVGLQHRGQESAGIVTSDGSSVPTF
KSHKGMGLVNHVFTEDNLKKLYVSNLGIGHTRYATTGKCELENCQPFVVETLHGKIAVAHNGELVNAARLRKKLLRHGIGLSTSSDSEMI
TQLLAYTPPQEQDDTPDWVARIKNLMKEAPTAYSLLIMHRDVIYAVRDPYGNRPLCIGRLIPVSDINDKEKKTSETEGWVVSSESCSFLS
IGARYYREVLPGEIVEISRHNVQTLDIISRSEGNPVAFCIFEYVYFARPDSMFEGPSIVTPPKDIWNVTGAQVYLSCEVIGIPTPVLIWN

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

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Fusion Gene PPI Analysis for PPAT-IGFBP7


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 PPAT-IGFBP7


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneIGFBP7Q16270DB00071Insulin porkBiotechApproved
TgeneIGFBP7Q16270DB00071Insulin porkBiotechApproved
TgeneIGFBP7Q16270DB00071Insulin porkBiotechApproved

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Related Diseases for PPAT-IGFBP7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePPATC0019207Hepatoma, Morris1CTD_human
HgenePPATC0019208Hepatoma, Novikoff1CTD_human
HgenePPATC0023904Liver Neoplasms, Experimental1CTD_human
HgenePPATC0086404Experimental Hepatoma1CTD_human
HgenePPATC0151744Myocardial Ischemia1CTD_human
TgeneIGFBP7C3280205RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS2GENOMICS_ENGLAND;ORPHANET
TgeneIGFBP7C0006142Malignant neoplasm of breast1CTD_human
TgeneIGFBP7C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneIGFBP7C0024623Malignant neoplasm of stomach1CTD_human
TgeneIGFBP7C0033578Prostatic Neoplasms1CTD_human
TgeneIGFBP7C0038356Stomach Neoplasms1CTD_human
TgeneIGFBP7C0376358Malignant neoplasm of prostate1CTD_human
TgeneIGFBP7C0678222Breast Carcinoma1CTD_human
TgeneIGFBP7C1257931Mammary Neoplasms, Human1CTD_human
TgeneIGFBP7C1458155Mammary Neoplasms1CTD_human
TgeneIGFBP7C1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneIGFBP7C4704874Mammary Carcinoma, Human1CTD_human