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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: 29265

FusionGeneSummary for PTBP1_PTBP1

check button Fusion gene summary
Fusion gene informationFusion gene name: PTBP1_PTBP1
Fusion gene ID: 29265
HgeneTgene
Gene symbol

PTBP1

PTBP1

Gene ID

5725

5725

Gene namepolypyrimidine tract binding protein 1polypyrimidine tract binding protein 1
SynonymsHNRNP-I|HNRNPI|HNRPI|PTB|PTB-1|PTB-T|PTB2|PTB3|PTB4|pPTBHNRNP-I|HNRNPI|HNRPI|PTB|PTB-1|PTB-T|PTB2|PTB3|PTB4|pPTB
Cytomap

19p13.3

19p13.3

Type of geneprotein-codingprotein-coding
Descriptionpolypyrimidine tract-binding protein 157 kDa RNA-binding protein PPTB-1RNA-binding proteinheterogeneous nuclear ribonucleoprotein Iheterogeneous nuclear ribonucleoprotein polypeptide IhnRNP Ipolypyrimidine tract binding protein (heterogeneous nucleapolypyrimidine tract-binding protein 157 kDa RNA-binding protein PPTB-1RNA-binding proteinheterogeneous nuclear ribonucleoprotein Iheterogeneous nuclear ribonucleoprotein polypeptide IhnRNP Ipolypyrimidine tract binding protein (heterogeneous nuclea
Modification date2018052320180523
UniProtAcc

P26599

P26599

Ensembl transtripts involved in fusion geneENST00000356948, ENST00000350092, 
ENST00000349038, ENST00000394601, 
ENST00000356948, ENST00000350092, 
ENST00000349038, ENST00000394601, 
Fusion gene scores* DoF score7 X 7 X 6=2942 X 2 X 1=4
# samples 82
** MAII scorelog2(8/294*10)=-1.877744249949
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: PTBP1 [Title/Abstract] AND PTBP1 [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
HgenePTBP1

GO:0000381

regulation of alternative mRNA splicing, via spliceosome

16260624|21518792

HgenePTBP1

GO:0033119

negative regulation of RNA splicing

18335065

HgenePTBP1

GO:0048025

negative regulation of mRNA splicing, via spliceosome

15009664

HgenePTBP1

GO:0051148

negative regulation of muscle cell differentiation

21518792

TgenePTBP1

GO:0000381

regulation of alternative mRNA splicing, via spliceosome

16260624|21518792

TgenePTBP1

GO:0033119

negative regulation of RNA splicing

18335065

TgenePTBP1

GO:0048025

negative regulation of mRNA splicing, via spliceosome

15009664

TgenePTBP1

GO:0051148

negative regulation of muscle cell differentiation

21518792


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
ChiTaRS3.1AW881297PTBP1chr19

804109

-PTBP1chr19

797449

+
* 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
5CDS-5UTRENST00000356948ENST00000356948PTBP1chr19

804109

-PTBP1chr19

797449

+
5CDS-5UTRENST00000356948ENST00000350092PTBP1chr19

804109

-PTBP1chr19

797449

+
5CDS-5UTRENST00000356948ENST00000349038PTBP1chr19

804109

-PTBP1chr19

797449

+
5CDS-5UTRENST00000356948ENST00000394601PTBP1chr19

804109

-PTBP1chr19

797449

+
intron-5UTRENST00000350092ENST00000356948PTBP1chr19

804109

-PTBP1chr19

797449

+
intron-5UTRENST00000350092ENST00000350092PTBP1chr19

804109

-PTBP1chr19

797449

+
intron-5UTRENST00000350092ENST00000349038PTBP1chr19

804109

-PTBP1chr19

797449

+
intron-5UTRENST00000350092ENST00000394601PTBP1chr19

804109

-PTBP1chr19

797449

+
5CDS-5UTRENST00000349038ENST00000356948PTBP1chr19

804109

-PTBP1chr19

797449

+
5CDS-5UTRENST00000349038ENST00000350092PTBP1chr19

804109

-PTBP1chr19

797449

+
5CDS-5UTRENST00000349038ENST00000349038PTBP1chr19

804109

-PTBP1chr19

797449

+
5CDS-5UTRENST00000349038ENST00000394601PTBP1chr19

804109

-PTBP1chr19

797449

+
5CDS-5UTRENST00000394601ENST00000356948PTBP1chr19

804109

-PTBP1chr19

797449

+
5CDS-5UTRENST00000394601ENST00000350092PTBP1chr19

804109

-PTBP1chr19

797449

+
5CDS-5UTRENST00000394601ENST00000349038PTBP1chr19

804109

-PTBP1chr19

797449

+
5CDS-5UTRENST00000394601ENST00000394601PTBP1chr19

804109

-PTBP1chr19

797449

+

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FusionProtFeatures for PTBP1_PTBP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PTBP1

P26599

PTBP1

P26599

Plays a role in pre-mRNA splicing and in the regulationof alternative splicing events. Activates exon skipping of its ownpre-mRNA during muscle cell differentiation. Binds to thepolypyrimidine tract of introns. May promote RNA looping whenbound to two separate polypyrimidine tracts in the same pre-mRNA.May promote the binding of U2 snRNP to pre-mRNA. Cooperates withRAVER1 to modulate switching between mutually exclusive exonsduring maturation of the TPM1 pre-mRNA. Represses the splicing ofMAPT/Tau exon 10 (PubMed:15009664). In case of infection bypicornaviruses, binds to the viral internal ribosome entry site(IRES) and stimulates the IRES-mediated translation(PubMed:21518806). {ECO:0000269|PubMed:11003644,ECO:0000269|PubMed:15009664, ECO:0000269|PubMed:16179478,ECO:0000269|PubMed:16260624, ECO:0000269|PubMed:21518792,ECO:0000269|PubMed:21518806}. Plays a role in pre-mRNA splicing and in the regulationof alternative splicing events. Activates exon skipping of its ownpre-mRNA during muscle cell differentiation. Binds to thepolypyrimidine tract of introns. May promote RNA looping whenbound to two separate polypyrimidine tracts in the same pre-mRNA.May promote the binding of U2 snRNP to pre-mRNA. Cooperates withRAVER1 to modulate switching between mutually exclusive exonsduring maturation of the TPM1 pre-mRNA. Represses the splicing ofMAPT/Tau exon 10 (PubMed:15009664). In case of infection bypicornaviruses, binds to the viral internal ribosome entry site(IRES) and stimulates the IRES-mediated translation(PubMed:21518806). {ECO:0000269|PubMed:11003644,ECO:0000269|PubMed:15009664, ECO:0000269|PubMed:16179478,ECO:0000269|PubMed:16260624, ECO:0000269|PubMed:21518792,ECO:0000269|PubMed:21518806}.

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 PTBP1_PTBP1


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 PTBP1_PTBP1


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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RelatedDrugs for PTBP1_PTBP1


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 PTBP1_PTBP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePTBP1C0024667Animal Mammary Neoplasms1CTD_human
HgenePTBP1C0024668Mammary Neoplasms, Experimental1CTD_human
TgenePTBP1C0024667Animal Mammary Neoplasms1CTD_human
TgenePTBP1C0024668Mammary Neoplasms, Experimental1CTD_human