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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 28175

FusionGeneSummary for PPFIBP1_PDILT

check button Fusion gene summary
Fusion gene informationFusion gene name: PPFIBP1_PDILT
Fusion gene ID: 28175
HgeneTgene
Gene symbol

PPFIBP1

PDILT

Gene ID

8496

204474

Gene namePPFIA binding protein 1protein disulfide isomerase like, testis expressed
SynonymsL2|SGT2|hSGT2|hSgt2pPDIA7
Cytomap

12p11.23-p11.22

16p12.3

Type of geneprotein-codingprotein-coding
Descriptionliprin-beta-1PTPRF interacting protein, binding protein 1 (liprin beta 1)PTPRF-interacting protein-binding protein 1liprin related proteinprotein-tyrosine phosphatase receptor-type f polypeptide-interacting protein-binding protein 1protein disulfide-isomerase-like protein of the testisprotein disulfide isomerase family A, member 7
Modification date2018052220180523
UniProtAcc

Q86W92

Q8N807

Ensembl transtripts involved in fusion geneENST00000545334, ENST00000537927, 
ENST00000318304, ENST00000535047, 
ENST00000542629, ENST00000228425, 
ENST00000541633, 
ENST00000302451, 
Fusion gene scores* DoF score10 X 6 X 8=4802 X 2 X 2=8
# samples 112
** MAII scorelog2(11/480*10)=-2.12553088208386
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: PPFIBP1 [Title/Abstract] AND PDILT [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVBRCATCGA-E2-A15A-06APPFIBP1chr12

27731172

+PDILTchr16

20381011

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
5UTR-3CDSENST00000545334ENST00000302451PPFIBP1chr12

27731172

+PDILTchr16

20381011

-
5UTR-3CDSENST00000537927ENST00000302451PPFIBP1chr12

27731172

+PDILTchr16

20381011

-
5UTR-3CDSENST00000318304ENST00000302451PPFIBP1chr12

27731172

+PDILTchr16

20381011

-
5UTR-3CDSENST00000535047ENST00000302451PPFIBP1chr12

27731172

+PDILTchr16

20381011

-
5UTR-3CDSENST00000542629ENST00000302451PPFIBP1chr12

27731172

+PDILTchr16

20381011

-
5UTR-3CDSENST00000228425ENST00000302451PPFIBP1chr12

27731172

+PDILTchr16

20381011

-
3UTR-3CDSENST00000541633ENST00000302451PPFIBP1chr12

27731172

+PDILTchr16

20381011

-

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FusionProtFeatures for PPFIBP1_PDILT


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PPFIBP1

Q86W92

PDILT

Q8N807

May regulate the disassembly of focal adhesions. Did notbind receptor-like tyrosine phosphatases type 2A.{ECO:0000269|PubMed:9624153}. Probable redox-inactive chaperone involved inspermatogenesis. {ECO:0000269|PubMed:17507649}.

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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FusionGeneSequence for PPFIBP1_PDILT


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for PPFIBP1_PDILT


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
PPFIBP1YWHAG, YWHAQ, SFN, S100A4, PPFIBP1, ELAVL1, SH3KBP1, GRK5, LATS2, YWHAB, CDKN1A, CEP250, CEP76, TP53, VCP, ENO1, MOV10, NXF1, PNKD, NTRK1, PPFIA1, PPFIA2, PPFIA3, TMEM17, PPP2R1A, DYNLL1, KIF21A, YWHAZ, CDH1, HAO2, RAPGEF5, KANK2, DCAF7PDILT


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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RelatedDrugs for PPFIBP1_PDILT


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for PPFIBP1_PDILT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePPFIBP1C0085269Plasma Cell Granuloma, Pulmonary1CTD_human