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Fusion gene ID: 29262 |
FusionGeneSummary for PTBP1_FGF22 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PTBP1_FGF22 | Fusion gene ID: 29262 | Hgene | Tgene | Gene symbol | PTBP1 | FGF22 | Gene ID | 5725 | 27006 |
| Gene name | polypyrimidine tract binding protein 1 | fibroblast growth factor 22 | |
| Synonyms | 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 | fibroblast growth factor 22FGF-22 | |
| Modification date | 20180523 | 20180329 | |
| UniProtAcc | P26599 | Q9HCT0 | |
| Ensembl transtripts involved in fusion gene | ENST00000356948, ENST00000350092, ENST00000349038, ENST00000394601, | ENST00000215530, ENST00000586042, ENST00000166133, | |
| Fusion gene scores | * DoF score | 7 X 7 X 6=294 | 1 X 1 X 1=1 |
| # samples | 8 | 1 | |
| ** MAII score | log2(8/294*10)=-1.877744249949 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: PTBP1 [Title/Abstract] AND FGF22 [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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| 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 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | LD | OV | TCGA-25-1326-01A | PTBP1 | chr19 | 808762 | + | FGF22 | chr19 | 643235 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| Frame-shift | ENST00000356948 | ENST00000215530 | PTBP1 | chr19 | 808762 | + | FGF22 | chr19 | 643235 | + |
| Frame-shift | ENST00000356948 | ENST00000586042 | PTBP1 | chr19 | 808762 | + | FGF22 | chr19 | 643235 | + |
| Frame-shift | ENST00000356948 | ENST00000166133 | PTBP1 | chr19 | 808762 | + | FGF22 | chr19 | 643235 | + |
| Frame-shift | ENST00000350092 | ENST00000215530 | PTBP1 | chr19 | 808762 | + | FGF22 | chr19 | 643235 | + |
| Frame-shift | ENST00000350092 | ENST00000586042 | PTBP1 | chr19 | 808762 | + | FGF22 | chr19 | 643235 | + |
| Frame-shift | ENST00000350092 | ENST00000166133 | PTBP1 | chr19 | 808762 | + | FGF22 | chr19 | 643235 | + |
| Frame-shift | ENST00000349038 | ENST00000215530 | PTBP1 | chr19 | 808762 | + | FGF22 | chr19 | 643235 | + |
| Frame-shift | ENST00000349038 | ENST00000586042 | PTBP1 | chr19 | 808762 | + | FGF22 | chr19 | 643235 | + |
| Frame-shift | ENST00000349038 | ENST00000166133 | PTBP1 | chr19 | 808762 | + | FGF22 | chr19 | 643235 | + |
| Frame-shift | ENST00000394601 | ENST00000215530 | PTBP1 | chr19 | 808762 | + | FGF22 | chr19 | 643235 | + |
| Frame-shift | ENST00000394601 | ENST00000586042 | PTBP1 | chr19 | 808762 | + | FGF22 | chr19 | 643235 | + |
| Frame-shift | ENST00000394601 | ENST00000166133 | PTBP1 | chr19 | 808762 | + | FGF22 | chr19 | 643235 | + |
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FusionProtFeatures for PTBP1_FGF22 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PTBP1 | FGF22 |
| 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 the fasting response, glucosehomeostasis, lipolysis and lipogenesis. Can stimulate cellproliferation (in vitro). May be involved in hair development.{ECO:0000269|PubMed:16597617}. |
| Retention 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 . * 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_FGF22 |
| 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_FGF22 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| PTBP1 | HNRNPL, CALCOCO2, SNRPA, PTBP1, SFPQ, PCBP2, HNRNPK, SAP25, SRRM1, UBC, HDAC5, PSMA3, SMARCAD1, ARRB2, HNRNPA1, ISG15, CUL3, CUL5, CDK2, CUL1, COPS5, CAND1, PCBP1, PCBP3, QKI, FBXO6, NPM1, APP, HNRNPU, HNRNPA2B1, SRSF5, HNRNPA3, HNRNPD, NCL, HNRNPA0, HNRNPDL, HTATSF1, RPS7, RPL36, TMEM177, PNPT1, RAB1A, NOTCH1, RORA, FN1, VCAM1, RBM10, ELAVL1, HNRNPAB, RBFOX2, NOS2, IL7R, ITGA4, HMGA1, HMGA2, SRPK2, TARDBP, APBB1, AIMP1, IQGAP1, RPSA, ABCF1, AIMP2, NELFB, YBX3, DIMT1, EIF2B2, EIF4G1, EPRS, FAU, G3BP1, ILF2, QARS, RPS27, YBX1, SPTAN1, RPA3, RPA2, RPA1, LGR4, NONO, MOV10, NXF1, MDM2, HIST3H3, CUL7, OBSL1, CCDC8, SUZ12, EED, RNF2, BMI1, MARK4, ACAT1, AMIGO2, ATP5A1, ATP5B, ATP5C1, CANX, CCNH, CHEK1, DDX17, FUS, HSD17B10, HSPA5, HSPB1, PDHA1, PDHB, HSPA9, PHB2, RAB2A, RANGAP1, SAR1A, SLC3A2, STOML2, TIMM13, TOMM70A, TUFM, NTRK1, SCARNA22, MATR3, CRY1, MCM2, CDC5L, U2AF2, CYLD, COX15, DLD, DNM1L, TRIM25, BRCA1, YAP1 | FGF22 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PTBP1_FGF22 |
| Drugs targeting genes involved in this fusion gene. (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_FGF22 |
| Diseases associated with fusion partners. (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 |
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