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Fusion gene ID: 29265 |
FusionGeneSummary for PTBP1_PTBP1 |
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Fusion gene information | Fusion gene name: PTBP1_PTBP1 | Fusion gene ID: 29265 | Hgene | Tgene | Gene symbol | PTBP1 | PTBP1 | Gene ID | 5725 | 5725 |
Gene name | polypyrimidine tract binding protein 1 | polypyrimidine tract binding protein 1 | |
Synonyms | HNRNP-I|HNRNPI|HNRPI|PTB|PTB-1|PTB-T|PTB2|PTB3|PTB4|pPTB | HNRNP-I|HNRNPI|HNRPI|PTB|PTB-1|PTB-T|PTB2|PTB3|PTB4|pPTB | |
Cytomap | 19p13.3 | 19p13.3 | |
Type of gene | protein-coding | protein-coding | |
Description | polypyrimidine 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 | polypyrimidine 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 date | 20180523 | 20180523 | |
UniProtAcc | P26599 | P26599 | |
Ensembl transtripts involved in fusion gene | ENST00000356948, ENST00000350092, ENST00000349038, ENST00000394601, | ENST00000356948, ENST00000350092, ENST00000349038, ENST00000394601, | |
Fusion gene scores | * DoF score | 7 X 7 X 6=294 | 2 X 2 X 1=4 |
# samples | 8 | 2 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | PTBP1 | GO:0000381 | regulation of alternative mRNA splicing, via spliceosome | 16260624|21518792 |
Hgene | PTBP1 | GO:0033119 | negative regulation of RNA splicing | 18335065 |
Hgene | PTBP1 | GO:0048025 | negative regulation of mRNA splicing, via spliceosome | 15009664 |
Hgene | PTBP1 | GO:0051148 | negative regulation of muscle cell differentiation | 21518792 |
Tgene | PTBP1 | GO:0000381 | regulation of alternative mRNA splicing, via spliceosome | 16260624|21518792 |
Tgene | PTBP1 | GO:0033119 | negative regulation of RNA splicing | 18335065 |
Tgene | PTBP1 | GO:0048025 | negative regulation of mRNA splicing, via spliceosome | 15009664 |
Tgene | PTBP1 | GO:0051148 | negative regulation of muscle cell differentiation | 21518792 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | AW881297 | PTBP1 | chr19 | 804109 | - | PTBP1 | chr19 | 797449 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-5UTR | ENST00000356948 | ENST00000356948 | PTBP1 | chr19 | 804109 | - | PTBP1 | chr19 | 797449 | + |
5CDS-5UTR | ENST00000356948 | ENST00000350092 | PTBP1 | chr19 | 804109 | - | PTBP1 | chr19 | 797449 | + |
5CDS-5UTR | ENST00000356948 | ENST00000349038 | PTBP1 | chr19 | 804109 | - | PTBP1 | chr19 | 797449 | + |
5CDS-5UTR | ENST00000356948 | ENST00000394601 | PTBP1 | chr19 | 804109 | - | PTBP1 | chr19 | 797449 | + |
intron-5UTR | ENST00000350092 | ENST00000356948 | PTBP1 | chr19 | 804109 | - | PTBP1 | chr19 | 797449 | + |
intron-5UTR | ENST00000350092 | ENST00000350092 | PTBP1 | chr19 | 804109 | - | PTBP1 | chr19 | 797449 | + |
intron-5UTR | ENST00000350092 | ENST00000349038 | PTBP1 | chr19 | 804109 | - | PTBP1 | chr19 | 797449 | + |
intron-5UTR | ENST00000350092 | ENST00000394601 | PTBP1 | chr19 | 804109 | - | PTBP1 | chr19 | 797449 | + |
5CDS-5UTR | ENST00000349038 | ENST00000356948 | PTBP1 | chr19 | 804109 | - | PTBP1 | chr19 | 797449 | + |
5CDS-5UTR | ENST00000349038 | ENST00000350092 | PTBP1 | chr19 | 804109 | - | PTBP1 | chr19 | 797449 | + |
5CDS-5UTR | ENST00000349038 | ENST00000349038 | PTBP1 | chr19 | 804109 | - | PTBP1 | chr19 | 797449 | + |
5CDS-5UTR | ENST00000349038 | ENST00000394601 | PTBP1 | chr19 | 804109 | - | PTBP1 | chr19 | 797449 | + |
5CDS-5UTR | ENST00000394601 | ENST00000356948 | PTBP1 | chr19 | 804109 | - | PTBP1 | chr19 | 797449 | + |
5CDS-5UTR | ENST00000394601 | ENST00000350092 | PTBP1 | chr19 | 804109 | - | PTBP1 | chr19 | 797449 | + |
5CDS-5UTR | ENST00000394601 | ENST00000349038 | PTBP1 | chr19 | 804109 | - | PTBP1 | chr19 | 797449 | + |
5CDS-5UTR | ENST00000394601 | ENST00000394601 | PTBP1 | chr19 | 804109 | - | PTBP1 | chr19 | 797449 | + |
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FusionProtFeatures for PTBP1_PTBP1 |
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Hgene | Tgene |
PTBP1 | PTBP1 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for PTBP1_PTBP1 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PTBP1_PTBP1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for PTBP1_PTBP1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PTBP1 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
Hgene | PTBP1 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
Tgene | PTBP1 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
Tgene | PTBP1 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |