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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: 28135

FusionGeneSummary for PPFIA1_ISPD

check button Fusion gene summary
Fusion gene informationFusion gene name: PPFIA1_ISPD
Fusion gene ID: 28135
HgeneTgene
Gene symbol

PPFIA1

ISPD

Gene ID

8500

729920

Gene namePTPRF interacting protein alpha 1isoprenoid synthase domain containing
SynonymsLIP.1|LIP1|LIPRINMDDGA7|MDDGC7|Nip|hCG_1745121|hISPD
Cytomap

11q13.3

7p21.2

Type of geneprotein-codingprotein-coding
Descriptionliprin-alpha-1LAR-interacting protein 1LIP-1Liprin-alpha1protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-1protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1D-ribitol-5-phosphate cytidylyltransferase2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolognotch1-induced proteintesticular tissue protein Li 97
Modification date2018052220180523
UniProtAcc

Q13136

A4D126

Ensembl transtripts involved in fusion geneENST00000253925, ENST00000389547, 
ENST00000530548, 
ENST00000407010, 
ENST00000399310, ENST00000479493, 
Fusion gene scores* DoF score36 X 13 X 14=65523 X 2 X 3=18
# samples 413
** MAII scorelog2(41/6552*10)=-3.99823954213556
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PPFIA1 [Title/Abstract] AND ISPD [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
TCGALDBRCATCGA-B6-A0I9-01APPFIA1chr11

70201917

+ISPDchr7

16341091

-
* 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
Frame-shiftENST00000253925ENST00000407010PPFIA1chr11

70201917

+ISPDchr7

16341091

-
Frame-shiftENST00000253925ENST00000399310PPFIA1chr11

70201917

+ISPDchr7

16341091

-
Frame-shiftENST00000253925ENST00000479493PPFIA1chr11

70201917

+ISPDchr7

16341091

-
Frame-shiftENST00000389547ENST00000407010PPFIA1chr11

70201917

+ISPDchr7

16341091

-
Frame-shiftENST00000389547ENST00000399310PPFIA1chr11

70201917

+ISPDchr7

16341091

-
Frame-shiftENST00000389547ENST00000479493PPFIA1chr11

70201917

+ISPDchr7

16341091

-
intron-3CDSENST00000530548ENST00000407010PPFIA1chr11

70201917

+ISPDchr7

16341091

-
intron-3CDSENST00000530548ENST00000399310PPFIA1chr11

70201917

+ISPDchr7

16341091

-
intron-3CDSENST00000530548ENST00000479493PPFIA1chr11

70201917

+ISPDchr7

16341091

-

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FusionProtFeatures for PPFIA1_ISPD


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PPFIA1

Q13136

ISPD

A4D126

May regulate the disassembly of focal adhesions. Maylocalize receptor-like tyrosine phosphatases type 2A at specificsites on the plasma membrane, possibly regulating theirinteraction with the extracellular environment and theirassociation with substrates. {ECO:0000269|PubMed:7796809}. Cytidylyltransferase required for protein O-linkedmannosylation (PubMed:26687144, PubMed:27130732, PubMed:27601598,PubMed:22522420, PubMed:22522421). Catalyzes the formation of CDP-ribitol nucleotide sugar from D-ribitol 5-phosphate(PubMed:26687144, PubMed:27130732). CDP-ribitol is a substrate ofFKTN during the biosynthesis of the phosphorylated O-mannosyltrisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present inalpha-dystroglycan (DAG1), which is required for binding lamininG-like domain-containing extracellular proteins with high affinity(PubMed:26687144, PubMed:27130732). Shows activity toward otherpentose phosphate sugars and mediates formation of CDP-ribulose orCDP-ribose using CTP and ribulose-5-phosphate or ribose-5-phosphate, respectively (PubMed:26687144). Not Involved indolichol production (PubMed:26687144).{ECO:0000269|PubMed:22522420, ECO:0000269|PubMed:22522421,ECO:0000269|PubMed:26687144, ECO:0000269|PubMed:27130732,ECO:0000269|PubMed:27601598}.

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 PPFIA1_ISPD


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 PPFIA1_ISPD


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
PPFIA1GIT1, ERC2, PPP2R5D, TNNT1, MBIP, GRIP2, PTPRF, PTPRD, PTPRS, NCOA2, PPP2CA, PPP2R1A, PPFIA1, PPFIA2, ING4, PPP2CB, CUL2, AGTPBP1, CEP70, AMOT, LATS2, YWHAB, IKBKG, PSMC4, PSMD1, PSMD13, PSMD8, SPTAN1, DROSHA, NDN, AURKB, CDKN1A, CCNH, DTNB, FAM161A, TXLNA, BRCA1, GPS2, C16orf70, CYP4X1, NTRK1, OSBP, PPFIA3, PPFIBP1, PPFIBP2, CAGE1, TUBG1, XRCC1, GBA2, CDC5L, NF2, IL17RE, LLGL2, SERPINB2, STX11, EXOC8, TTC9B, CCDC120, TRIM25ISPD


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 PPFIA1_ISPD


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 PPFIA1_ISPD


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneISPDC0265221Walker-Warburg congenital muscular dystrophy2CTD_human;ORPHANET
TgeneISPDC3553330MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 72UNIPROT
TgeneISPDC0015393Eye Abnormalities1CTD_human
TgeneISPDC0020255Hydrocephalus1CTD_human
TgeneISPDC0026848Myopathy1CTD_human
TgeneISPDC4015095MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 71ORPHANET;UNIPROT