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Fusion gene ID: 31453 |
FusionGeneSummary for RNF152_PIGN |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RNF152_PIGN | Fusion gene ID: 31453 | Hgene | Tgene | Gene symbol | RNF152 | PIGN | Gene ID | 220441 | 23556 |
| Gene name | ring finger protein 152 | phosphatidylinositol glycan anchor biosynthesis class N | |
| Synonyms | - | MCAHS|MCAHS1|MCD4|MDC4|PIG-N | |
| Cytomap | 18q21.33 | 18q21.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E3 ubiquitin-protein ligase RNF152RING-type E3 ubiquitin transferase RNF152 | GPI ethanolamine phosphate transferase 1MCD4 homologphosphatidylinositol-glycan biosynthesis class N protein | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q8N8N0 | O95427 | |
| Ensembl transtripts involved in fusion gene | ENST00000312828, ENST00000588064, | ENST00000357637, ENST00000400334, ENST00000593225, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 2 X 2 X 2=8 |
| # samples | 1 | 2 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: RNF152 [Title/Abstract] AND PIGN [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 | RNF152 | GO:0034198 | cellular response to amino acid starvation | 25936802 |
| Hgene | RNF152 | GO:0070936 | protein K48-linked ubiquitination | 21203937 |
| 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 | RV | HNSC | TCGA-CV-6954-01A | RNF152 | chr18 | 59560028 | - | PIGN | chr18 | 59774318 | - |
| * 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 |
| 5UTR-3CDS | ENST00000312828 | ENST00000357637 | RNF152 | chr18 | 59560028 | - | PIGN | chr18 | 59774318 | - |
| 5UTR-3CDS | ENST00000312828 | ENST00000400334 | RNF152 | chr18 | 59560028 | - | PIGN | chr18 | 59774318 | - |
| 5UTR-intron | ENST00000312828 | ENST00000593225 | RNF152 | chr18 | 59560028 | - | PIGN | chr18 | 59774318 | - |
| 5UTR-3CDS | ENST00000588064 | ENST00000357637 | RNF152 | chr18 | 59560028 | - | PIGN | chr18 | 59774318 | - |
| 5UTR-3CDS | ENST00000588064 | ENST00000400334 | RNF152 | chr18 | 59560028 | - | PIGN | chr18 | 59774318 | - |
| 5UTR-intron | ENST00000588064 | ENST00000593225 | RNF152 | chr18 | 59560028 | - | PIGN | chr18 | 59774318 | - |
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FusionProtFeatures for RNF152_PIGN |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RNF152 | PIGN |
| E3 ubiquitin-protein ligase mediating 'Lys-63'-linkedpolyubiquitination of RRAGA in response to amino acid starvation.Thereby, regulates mTORC1 signaling and plays a role in thecellular response to amino acid availability (PubMed:25936802).Also mediates 'Lys-48'-linked polyubiquitination of targetproteins and their subsequent targeting to the proteasome fordegradation. Induces apoptosis when overexpressed(PubMed:21203937). {ECO:0000269|PubMed:21203937,ECO:0000269|PubMed:25936802}. | Ethanolamine phosphate transferase involved inglycosylphosphatidylinositol-anchor biosynthesis. Transfersethanolamine phosphate to the first alpha-1,4-linked mannose ofthe glycosylphosphatidylinositol precursor of GPI-anchor (Bysimilarity). May act as suppressor of replication stress andchromosome missegregation. {ECO:0000250,ECO:0000269|PubMed:23446422}. |
| 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 RNF152_PIGN |
| 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 RNF152_PIGN |
| 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 |
| RNF152 | UBE2E1, UBE2N, UBE2W, CROCC, RRAGA | PIGN | UNC93B1, ELAVL1, FJX1, SHMT2, MOV10, NXF1, TXNDC15, PTEN, SPPL2B, YIPF3, ATP2B2, VIPR2, GPR21, TMEM63A, PTGIR, FPR2 |
| - 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 RNF152_PIGN |
| 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 RNF152_PIGN |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PIGN | C3279775 | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 | 1 | ORPHANET;UNIPROT |
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