|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 31144 |
FusionGeneSummary for RHBDF1_NPRL3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RHBDF1_NPRL3 | Fusion gene ID: 31144 | Hgene | Tgene | Gene symbol | RHBDF1 | NPRL3 | Gene ID | 64285 | 8131 |
| Gene name | rhomboid 5 homolog 1 | NPR3 like, GATOR1 complex subunit | |
| Synonyms | C16orf8|Dist1|EGFR-RS|gene-89|gene-90|hDist1 | C16orf35|CGTHBA|FFEVF3|HS-40|MARE|NPR3|RMD11 | |
| Cytomap | 16p13.3 | 16p13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | inactive rhomboid protein 1epidermal growth factor receptor, related sequenceepidermal growth factor receptor-related proteiniRhom1p100hRhorhomboid family 1rhomboid family member 1 | GATOR complex protein NPRL3-14 gene proteinalpha-globin regulatory element-containing gene proteinconserved gene telomeric to alpha globin cluster | |
| Modification date | 20180526 | 20180523 | |
| UniProtAcc | Q96CC6 | Q12980 | |
| Ensembl transtripts involved in fusion gene | ENST00000262316, ENST00000454039, | ENST00000399951, ENST00000399953, ENST00000405960, | |
| Fusion gene scores | * DoF score | 3 X 4 X 2=24 | 3 X 4 X 4=48 |
| # samples | 4 | 5 | |
| ** MAII score | log2(4/24*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/48*10)=0.0588936890535686 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: RHBDF1 [Title/Abstract] AND NPRL3 [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 | RHBDF1 | GO:0050709 | negative regulation of protein secretion | 21439629 |
| Hgene | RHBDF1 | GO:0061136 | regulation of proteasomal protein catabolic process | 21439629 |
| 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 | LGG | TCGA-QH-A6CX-01A | RHBDF1 | chr16 | 111383 | - | NPRL3 | chr16 | 188843 | - |
| * 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 |
| 5CDS-intron | ENST00000262316 | ENST00000399951 | RHBDF1 | chr16 | 111383 | - | NPRL3 | chr16 | 188843 | - |
| 5CDS-intron | ENST00000262316 | ENST00000399953 | RHBDF1 | chr16 | 111383 | - | NPRL3 | chr16 | 188843 | - |
| 5CDS-5UTR | ENST00000262316 | ENST00000405960 | RHBDF1 | chr16 | 111383 | - | NPRL3 | chr16 | 188843 | - |
| intron-intron | ENST00000454039 | ENST00000399951 | RHBDF1 | chr16 | 111383 | - | NPRL3 | chr16 | 188843 | - |
| intron-intron | ENST00000454039 | ENST00000399953 | RHBDF1 | chr16 | 111383 | - | NPRL3 | chr16 | 188843 | - |
| intron-5UTR | ENST00000454039 | ENST00000405960 | RHBDF1 | chr16 | 111383 | - | NPRL3 | chr16 | 188843 | - |
Top |
FusionProtFeatures for RHBDF1_NPRL3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RHBDF1 | NPRL3 |
| Rhomboid protease-like protein which has no proteaseactivity but regulates the secretion of several ligands of theepidermal growth factor receptor. Indirectly activates theepidermal growth factor receptor signaling pathway and may therebyregulate sleep, cell survival, proliferation and migration.{ECO:0000269|PubMed:15965977, ECO:0000269|PubMed:18524845,ECO:0000269|PubMed:18832597, ECO:0000269|PubMed:21439629}. | As a component of the GATOR1 complex functions as aninhibitor of the amino acid-sensing branch of the TORC1 pathway.The GATOR1 complex strongly increases GTP hydrolysis by RRAGA andRRAGB within RRAGC-containing heterodimers, thereby deactivatingRRAGs, releasing mTORC1 from lysosomal surface and inhibitingmTORC1 signaling. The GATOR1 complex is negatively regulated byGATOR2 the other GATOR subcomplex in this amino acid-sensingbranch of the TORC1 pathway. {ECO:0000269|PubMed:23723238}. |
| 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 |
Top |
FusionGeneSequence for RHBDF1_NPRL3 |
| 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). |
Top |
FusionGenePPI for RHBDF1_NPRL3 |
| 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 |
| RHBDF1 | SHMT2, MAPK14, PSMG1 | NPRL3 | NPRL2, TP53, TP63, TP73, FHL3, APPBP2, SCGN, ZNF414, CARD8, CHIA, ARHGAP25, WDR24, DEPDC5, RRAGA, C7orf60, LYPD4, DDX11, LRP1, TRIM25 |
| - 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 |
Top |
RelatedDrugs for RHBDF1_NPRL3 |
| 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 |
Top |
RelatedDiseases for RHBDF1_NPRL3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|