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Fusion gene ID: 27782 |
FusionGeneSummary for PMEPA1_PMEPA1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PMEPA1_PMEPA1 | Fusion gene ID: 27782 | Hgene | Tgene | Gene symbol | PMEPA1 | PMEPA1 | Gene ID | 56937 | 56937 |
| Gene name | prostate transmembrane protein, androgen induced 1 | prostate transmembrane protein, androgen induced 1 | |
| Synonyms | STAG1|TMEPAI | STAG1|TMEPAI | |
| Cytomap | 20q13.31 | 20q13.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein TMEPAIsolid tumor-associated 1 proteintransmembrane, prostate androgen induced RNA | protein TMEPAIsolid tumor-associated 1 proteintransmembrane, prostate androgen induced RNA | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q969W9 | Q969W9 | |
| Ensembl transtripts involved in fusion gene | ENST00000341744, ENST00000395816, ENST00000347215, ENST00000265626, ENST00000395814, ENST00000472841, | ENST00000341744, ENST00000395816, ENST00000347215, ENST00000265626, ENST00000395814, ENST00000472841, | |
| Fusion gene scores | * DoF score | 10 X 6 X 5=300 | 3 X 2 X 3=18 |
| # samples | 9 | 3 | |
| ** MAII score | log2(9/300*10)=-1.73696559416621 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: PMEPA1 [Title/Abstract] AND PMEPA1 [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 | PMEPA1 | GO:0010991 | negative regulation of SMAD protein complex assembly | 20129061 |
| Hgene | PMEPA1 | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | 24627487 |
| Hgene | PMEPA1 | GO:0060394 | negative regulation of pathway-restricted SMAD protein phosphorylation | 24627487 |
| Tgene | PMEPA1 | GO:0010991 | negative regulation of SMAD protein complex assembly | 20129061 |
| Tgene | PMEPA1 | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | 24627487 |
| Tgene | PMEPA1 | GO:0060394 | negative regulation of pathway-restricted SMAD protein phosphorylation | 24627487 |
| 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 |
| ChiTaRS3.1 | AA249792 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| * 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 |
| intron-3CDS | ENST00000341744 | ENST00000341744 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000341744 | ENST00000395816 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000341744 | ENST00000347215 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000341744 | ENST00000265626 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000341744 | ENST00000395814 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000341744 | ENST00000472841 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-3CDS | ENST00000395816 | ENST00000341744 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000395816 | ENST00000395816 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000395816 | ENST00000347215 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000395816 | ENST00000265626 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000395816 | ENST00000395814 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000395816 | ENST00000472841 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-3CDS | ENST00000347215 | ENST00000341744 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000347215 | ENST00000395816 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000347215 | ENST00000347215 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000347215 | ENST00000265626 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000347215 | ENST00000395814 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000347215 | ENST00000472841 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-3CDS | ENST00000265626 | ENST00000341744 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000265626 | ENST00000395816 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000265626 | ENST00000347215 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000265626 | ENST00000265626 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000265626 | ENST00000395814 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000265626 | ENST00000472841 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-3CDS | ENST00000395814 | ENST00000341744 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000395814 | ENST00000395816 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000395814 | ENST00000347215 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000395814 | ENST00000265626 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000395814 | ENST00000395814 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000395814 | ENST00000472841 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-3CDS | ENST00000472841 | ENST00000341744 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000472841 | ENST00000395816 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000472841 | ENST00000347215 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000472841 | ENST00000265626 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000472841 | ENST00000395814 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
| intron-intron | ENST00000472841 | ENST00000472841 | PMEPA1 | chr20 | 56227567 | - | PMEPA1 | chr20 | 56284590 | - |
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FusionProtFeatures for PMEPA1_PMEPA1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PMEPA1 | PMEPA1 |
| Functions as a negative regulator of TGF-beta signalingand thereby probably plays a role in cell proliferation,differentiation, apoptosis, motility, extracellular matrixproduction and immunosuppression. In the canonical TGF-betapathway, ZFYVE9/SARA recruits the intracellular signal transducerand transcriptional modulators SMAD2 and SMAD3 to the TGF-betareceptor. Phosphorylated by the receptor, SMAD2 and SMAD3 thenform a heteromeric complex with SMAD4 that translocates to thenucleus to regulate transcription. Through interaction with SMAD2and SMAD3, LDLRAD4 may compete with ZFYVE9 and SMAD4 and preventpropagation of the intracellular signal (PubMed:20129061,PubMed:24627487). Also involved in down-regulation of the androgenreceptor (AR), enhancing ubiquitination and proteasome-mediateddegradation of AR, probably by recruiting NEDD4 (PubMed:18703514).{ECO:0000269|PubMed:18703514, ECO:0000269|PubMed:20129061,ECO:0000269|PubMed:24627487}. | Functions as a negative regulator of TGF-beta signalingand thereby probably plays a role in cell proliferation,differentiation, apoptosis, motility, extracellular matrixproduction and immunosuppression. In the canonical TGF-betapathway, ZFYVE9/SARA recruits the intracellular signal transducerand transcriptional modulators SMAD2 and SMAD3 to the TGF-betareceptor. Phosphorylated by the receptor, SMAD2 and SMAD3 thenform a heteromeric complex with SMAD4 that translocates to thenucleus to regulate transcription. Through interaction with SMAD2and SMAD3, LDLRAD4 may compete with ZFYVE9 and SMAD4 and preventpropagation of the intracellular signal (PubMed:20129061,PubMed:24627487). Also involved in down-regulation of the androgenreceptor (AR), enhancing ubiquitination and proteasome-mediateddegradation of AR, probably by recruiting NEDD4 (PubMed:18703514).{ECO:0000269|PubMed:18703514, ECO:0000269|PubMed:20129061,ECO:0000269|PubMed:24627487}. |
| 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 PMEPA1_PMEPA1 |
| 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 PMEPA1_PMEPA1 |
| 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 |
| - 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 PMEPA1_PMEPA1 |
| 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 PMEPA1_PMEPA1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PMEPA1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | PMEPA1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
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