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Fusion gene ID: 40312 |
FusionGeneSummary for UBA3_FRMD4B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: UBA3_FRMD4B | Fusion gene ID: 40312 | Hgene | Tgene | Gene symbol | UBA3 | FRMD4B | Gene ID | 9039 | 23150 |
| Gene name | ubiquitin like modifier activating enzyme 3 | FERM domain containing 4B | |
| Synonyms | NAE2|UBE1C|hUBA3 | 6030440G05Rik|GRSP1 | |
| Cytomap | 3p14.1 | 3p14.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | NEDD8-activating enzyme E1 catalytic subunitNEDD8-activating enzyme E1 subunit 2NEDD8-activating enzyme E1CNedd8-activating enzyme hUba3UBA3, ubiquitin-activating enzyme E1 homologubiquitin-activating enzyme 3ubiquitin-activating enzyme E1C (UBA3 ho | FERM domain-containing protein 4BGRP1-binding protein GRSP1 | |
| Modification date | 20180526 | 20180519 | |
| UniProtAcc | Q8TBC4 | Q9Y2L6 | |
| Ensembl transtripts involved in fusion gene | ENST00000415609, ENST00000349511, ENST00000361055, ENST00000540295, | ENST00000398540, ENST00000542259, ENST00000497757, ENST00000478263, | |
| Fusion gene scores | * DoF score | 4 X 4 X 4=64 | 9 X 7 X 8=504 |
| # samples | 6 | 11 | |
| ** MAII score | log2(6/64*10)=-0.0931094043914815 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(11/504*10)=-2.19592020997526 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: UBA3 [Title/Abstract] AND FRMD4B [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 |
| 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 | BRCA | TCGA-BH-A0WA-01A | UBA3 | chr3 | 69126949 | - | FRMD4B | chr3 | 69225807 | - |
| TCGA | RV | UCEC | TCGA-BK-A139-02A | UBA3 | chr3 | 69120686 | - | FRMD4B | chr3 | 69225807 | - |
| TCGA | RV | UCEC | TCGA-BK-A139-01A | UBA3 | chr3 | 69120686 | - | FRMD4B | chr3 | 69225807 | - |
| * 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 | ENST00000415609 | ENST00000398540 | UBA3 | chr3 | 69126949 | - | FRMD4B | chr3 | 69225807 | - |
| Frame-shift | ENST00000415609 | ENST00000542259 | UBA3 | chr3 | 69126949 | - | FRMD4B | chr3 | 69225807 | - |
| 5CDS-intron | ENST00000415609 | ENST00000497757 | UBA3 | chr3 | 69126949 | - | FRMD4B | chr3 | 69225807 | - |
| 5CDS-intron | ENST00000415609 | ENST00000478263 | UBA3 | chr3 | 69126949 | - | FRMD4B | chr3 | 69225807 | - |
| Frame-shift | ENST00000349511 | ENST00000398540 | UBA3 | chr3 | 69126949 | - | FRMD4B | chr3 | 69225807 | - |
| Frame-shift | ENST00000349511 | ENST00000542259 | UBA3 | chr3 | 69126949 | - | FRMD4B | chr3 | 69225807 | - |
| 5CDS-intron | ENST00000349511 | ENST00000497757 | UBA3 | chr3 | 69126949 | - | FRMD4B | chr3 | 69225807 | - |
| 5CDS-intron | ENST00000349511 | ENST00000478263 | UBA3 | chr3 | 69126949 | - | FRMD4B | chr3 | 69225807 | - |
| Frame-shift | ENST00000361055 | ENST00000398540 | UBA3 | chr3 | 69126949 | - | FRMD4B | chr3 | 69225807 | - |
| Frame-shift | ENST00000361055 | ENST00000542259 | UBA3 | chr3 | 69126949 | - | FRMD4B | chr3 | 69225807 | - |
| 5CDS-intron | ENST00000361055 | ENST00000497757 | UBA3 | chr3 | 69126949 | - | FRMD4B | chr3 | 69225807 | - |
| 5CDS-intron | ENST00000361055 | ENST00000478263 | UBA3 | chr3 | 69126949 | - | FRMD4B | chr3 | 69225807 | - |
| 5UTR-3CDS | ENST00000540295 | ENST00000398540 | UBA3 | chr3 | 69126949 | - | FRMD4B | chr3 | 69225807 | - |
| 5UTR-3CDS | ENST00000540295 | ENST00000542259 | UBA3 | chr3 | 69126949 | - | FRMD4B | chr3 | 69225807 | - |
| 5UTR-intron | ENST00000540295 | ENST00000497757 | UBA3 | chr3 | 69126949 | - | FRMD4B | chr3 | 69225807 | - |
| 5UTR-intron | ENST00000540295 | ENST00000478263 | UBA3 | chr3 | 69126949 | - | FRMD4B | chr3 | 69225807 | - |
| Frame-shift | ENST00000415609 | ENST00000398540 | UBA3 | chr3 | 69120686 | - | FRMD4B | chr3 | 69225807 | - |
| Frame-shift | ENST00000415609 | ENST00000542259 | UBA3 | chr3 | 69120686 | - | FRMD4B | chr3 | 69225807 | - |
| 5CDS-intron | ENST00000415609 | ENST00000497757 | UBA3 | chr3 | 69120686 | - | FRMD4B | chr3 | 69225807 | - |
| 5CDS-intron | ENST00000415609 | ENST00000478263 | UBA3 | chr3 | 69120686 | - | FRMD4B | chr3 | 69225807 | - |
| Frame-shift | ENST00000349511 | ENST00000398540 | UBA3 | chr3 | 69120686 | - | FRMD4B | chr3 | 69225807 | - |
| Frame-shift | ENST00000349511 | ENST00000542259 | UBA3 | chr3 | 69120686 | - | FRMD4B | chr3 | 69225807 | - |
| 5CDS-intron | ENST00000349511 | ENST00000497757 | UBA3 | chr3 | 69120686 | - | FRMD4B | chr3 | 69225807 | - |
| 5CDS-intron | ENST00000349511 | ENST00000478263 | UBA3 | chr3 | 69120686 | - | FRMD4B | chr3 | 69225807 | - |
| Frame-shift | ENST00000361055 | ENST00000398540 | UBA3 | chr3 | 69120686 | - | FRMD4B | chr3 | 69225807 | - |
| Frame-shift | ENST00000361055 | ENST00000542259 | UBA3 | chr3 | 69120686 | - | FRMD4B | chr3 | 69225807 | - |
| 5CDS-intron | ENST00000361055 | ENST00000497757 | UBA3 | chr3 | 69120686 | - | FRMD4B | chr3 | 69225807 | - |
| 5CDS-intron | ENST00000361055 | ENST00000478263 | UBA3 | chr3 | 69120686 | - | FRMD4B | chr3 | 69225807 | - |
| intron-3CDS | ENST00000540295 | ENST00000398540 | UBA3 | chr3 | 69120686 | - | FRMD4B | chr3 | 69225807 | - |
| intron-3CDS | ENST00000540295 | ENST00000542259 | UBA3 | chr3 | 69120686 | - | FRMD4B | chr3 | 69225807 | - |
| intron-intron | ENST00000540295 | ENST00000497757 | UBA3 | chr3 | 69120686 | - | FRMD4B | chr3 | 69225807 | - |
| intron-intron | ENST00000540295 | ENST00000478263 | UBA3 | chr3 | 69120686 | - | FRMD4B | chr3 | 69225807 | - |
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FusionProtFeatures for UBA3_FRMD4B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| UBA3 | FRMD4B |
| Catalytic subunit of the dimeric UBA3-NAE1 E1 enzyme. E1activates NEDD8 by first adenylating its C-terminal glycineresidue with ATP, thereafter linking this residue to the sidechain of the catalytic cysteine, yielding a NEDD8-UBA3 thioesterand free AMP. E1 finally transfers NEDD8 to the catalytic cysteineof UBE2M. Down-regulates steroid receptor activity. Necessary forcell cycle progression. {ECO:0000269|PubMed:10207026,ECO:0000269|PubMed:12740388, ECO:0000269|PubMed:9694792}. | Member of GRP1 signaling complexes that are acutelyrecruited to plasma membrane ruffles in response to insulinreceptor signaling. May function as a scaffolding protein thatregulates epithelial cell polarity by connecting ARF6 activationwith the PAR3 complex. Plays a redundant role with FRMD4A inepithelial polarization. {ECO:0000250|UniProtKB:Q920B0}. |
| 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 UBA3_FRMD4B |
| 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 UBA3_FRMD4B |
| 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 |
| UBA3 | UBE2M, CHD3, NAE1, UIMC1, NEDD8, UFC1, WDR61, PRDX2, TXNDC17, UBE2H, TWF1, NUDCD2, VCL, DSTN, NT5DC1, KDM1A, ACAT2, AHCY, CAPN2, DCPS, NSFL1C, PAPSS1, PCYT2, CAMK1D, XPO1, IMPA2, UBA3, CPNE2, UBE2F, APIP, ZBTB44, ATG7, NF2, CCND2 | FRMD4B | XPO1 |
| - 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 UBA3_FRMD4B |
| 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 UBA3_FRMD4B |
| 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)
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