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Fusion gene ID: 40810 |
FusionGeneSummary for UNC5A_ERGIC1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: UNC5A_ERGIC1 | Fusion gene ID: 40810 | Hgene | Tgene | Gene symbol | UNC5A | ERGIC1 | Gene ID | 90249 | 57222 |
| Gene name | unc-5 netrin receptor A | endoplasmic reticulum-golgi intermediate compartment 1 | |
| Synonyms | UNC5H1 | AMCN|ERGIC-32|ERGIC32|NET24 | |
| Cytomap | 5q35.2 | 5q35.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | netrin receptor UNC5Anetrin receptor Unc5h1protein unc-5 homolog 1protein unc-5 homolog Aunc-5 homolog 1unc-5 homolog Aunc5 (C.elegans homolog) a | endoplasmic reticulum-Golgi intermediate compartment protein 1ER-Golgi intermediate compartment 32 kDa proteinendoplasmic reticulum-golgi intermediate compartment (ERGIC) 1endoplasmic reticulum-golgi intermediate compartment 32 kDa protein | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q6ZN44 | Q969X5 | |
| Ensembl transtripts involved in fusion gene | ENST00000329542, ENST00000261961, | ENST00000393784, ENST00000519860, ENST00000523291, ENST00000326654, | |
| Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 7 X 9 X 4=252 |
| # samples | 3 | 16 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(16/252*10)=-0.655351828612554 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: UNC5A [Title/Abstract] AND ERGIC1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 |
| Tgene | ERGIC1 | GO:0006888 | ER to Golgi vesicle-mediated transport | 15308636 |
| 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 | UCEC | TCGA-AJ-A23N-01A | UNC5A | chr5 | 176237821 | + | ERGIC1 | chr5 | 172377712 | + |
| * 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 | ENST00000329542 | ENST00000393784 | UNC5A | chr5 | 176237821 | + | ERGIC1 | chr5 | 172377712 | + |
| 5CDS-intron | ENST00000329542 | ENST00000519860 | UNC5A | chr5 | 176237821 | + | ERGIC1 | chr5 | 172377712 | + |
| 5CDS-intron | ENST00000329542 | ENST00000523291 | UNC5A | chr5 | 176237821 | + | ERGIC1 | chr5 | 172377712 | + |
| 5CDS-intron | ENST00000329542 | ENST00000326654 | UNC5A | chr5 | 176237821 | + | ERGIC1 | chr5 | 172377712 | + |
| intron-3CDS | ENST00000261961 | ENST00000393784 | UNC5A | chr5 | 176237821 | + | ERGIC1 | chr5 | 172377712 | + |
| intron-intron | ENST00000261961 | ENST00000519860 | UNC5A | chr5 | 176237821 | + | ERGIC1 | chr5 | 172377712 | + |
| intron-intron | ENST00000261961 | ENST00000523291 | UNC5A | chr5 | 176237821 | + | ERGIC1 | chr5 | 172377712 | + |
| intron-intron | ENST00000261961 | ENST00000326654 | UNC5A | chr5 | 176237821 | + | ERGIC1 | chr5 | 172377712 | + |
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FusionProtFeatures for UNC5A_ERGIC1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| UNC5A | ERGIC1 |
| Receptor for netrin required for axon guidance.Functions in the netrin signaling pathway and promotes neuriteoutgrowth in response to NTN1. Mediates axon repulsion of neuronalgrowth cones in the developing nervous system in response tonetrin. Axon repulsion in growth cones may be mediated by itsassociation with DCC that may trigger signaling for repulsion. Italso acts as a dependence receptor required for apoptosisinduction when not associated with netrin ligand.{ECO:0000250|UniProtKB:O08721}. | Possible role in transport between endoplasmic reticulumand Golgi. {ECO:0000303|PubMed:15308636}. |
| 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 UNC5A_ERGIC1 |
| 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 UNC5A_ERGIC1 |
| 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 |
| UNC5A | MAGED1, NTN1, DAPK1, FANCC | ERGIC1 | ERGIC3, FAF2, GNAI2, TOMM7, ATP6V1B1, HIGD1A, ITGA2, NDUFV1, MRPL11, MRPL32, UQCRFS1, IST1, ICT1, GOLGB1, RPA3, RPA2, RPA1, SUZ12, INA, EFNB1, TMED2, NTRK1, SYN1, PRPF4, CTR9, TFG, DUSP22, RDH10, 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 |
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RelatedDrugs for UNC5A_ERGIC1 |
| 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 UNC5A_ERGIC1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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