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Fusion gene ID: 40297 |
FusionGeneSummary for UBA1_FAT4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: UBA1_FAT4 | Fusion gene ID: 40297 | Hgene | Tgene | Gene symbol | UBA1 | FAT4 | Gene ID | 7317 | 79633 |
| Gene name | ubiquitin like modifier activating enzyme 1 | FAT atypical cadherin 4 | |
| Synonyms | A1S9|A1S9T|A1ST|AMCX1|CFAP124|GXP1|POC20|SMAX2|UBA1A|UBE1|UBE1X | CDHF14|CDHR11|FAT-J|FATJ|HKLLS2|NBLA00548|VMLDS2 | |
| Cytomap | Xp11.3 | 4q28.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ubiquitin-like modifier-activating enzyme 1A1S9T and BN75 temperature sensitivity complementingPOC20 centriolar protein homologUBA1, ubiquitin-activating enzyme E1 homolog Atesticular secretory protein Li 63 | protocadherin Fat 4FAT tumor suppressor homolog 4cadherin family member 14cadherin-related family member 11fat-like cadherin protein FAT-Jputative protein product of Nbla00548 | |
| Modification date | 20180523 | 20180520 | |
| UniProtAcc | P22314 | Q6V0I7 | |
| Ensembl transtripts involved in fusion gene | ENST00000377351, ENST00000335972, ENST00000490869, ENST00000377269, | ENST00000394329, ENST00000335110, | |
| Fusion gene scores | * DoF score | 7 X 8 X 2=112 | 1 X 1 X 1=1 |
| # samples | 8 | 1 | |
| ** MAII score | log2(8/112*10)=-0.485426827170242 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: UBA1 [Title/Abstract] AND FAT4 [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 | UBA1 | GO:0006974 | cellular response to DNA damage stimulus | 22456334 |
| 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 | BX281972 | UBA1 | chrX | 47064653 | + | FAT4 | chr4 | 126412752 | + |
| * 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 | ENST00000377351 | ENST00000394329 | UBA1 | chrX | 47064653 | + | FAT4 | chr4 | 126412752 | + |
| intron-3CDS | ENST00000377351 | ENST00000335110 | UBA1 | chrX | 47064653 | + | FAT4 | chr4 | 126412752 | + |
| intron-3CDS | ENST00000335972 | ENST00000394329 | UBA1 | chrX | 47064653 | + | FAT4 | chr4 | 126412752 | + |
| intron-3CDS | ENST00000335972 | ENST00000335110 | UBA1 | chrX | 47064653 | + | FAT4 | chr4 | 126412752 | + |
| intron-3CDS | ENST00000490869 | ENST00000394329 | UBA1 | chrX | 47064653 | + | FAT4 | chr4 | 126412752 | + |
| intron-3CDS | ENST00000490869 | ENST00000335110 | UBA1 | chrX | 47064653 | + | FAT4 | chr4 | 126412752 | + |
| intron-3CDS | ENST00000377269 | ENST00000394329 | UBA1 | chrX | 47064653 | + | FAT4 | chr4 | 126412752 | + |
| intron-3CDS | ENST00000377269 | ENST00000335110 | UBA1 | chrX | 47064653 | + | FAT4 | chr4 | 126412752 | + |
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FusionProtFeatures for UBA1_FAT4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| UBA1 | FAT4 |
| Catalyzes the first step in ubiquitin conjugation tomark cellular proteins for degradation through the ubiquitin-proteasome system (PubMed:1606621, PubMed:1447181). Activatesubiquitin by first adenylating its C-terminal glycine residue withATP, and thereafter linking this residue to the side chain of acysteine residue in E1, yielding a ubiquitin-E1 thioester and freeAMP (PubMed:1447181). Essential for the formation of radiation-induced foci, timely DNA repair and for response to replicationstress. Promotes the recruitment of TP53BP1 and BRCA1 at DNAdamage sites (PubMed:22456334). {ECO:0000269|PubMed:1447181,ECO:0000269|PubMed:1606621, ECO:0000269|PubMed:22456334}. | Cadherins are calcium-dependent cell adhesion proteins.FAT4 plays a role in the maintenance of planar cell polarity aswell as in inhibition of YAP1-mediated neuroprogenitor cellproliferation and differentiation (By similarity). {ECO:0000250}. |
| 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 UBA1_FAT4 |
| 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 UBA1_FAT4 |
| 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 UBA1_FAT4 |
| 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 UBA1_FAT4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | UBA1 | C1844934 | Arthrogryposis multiplex congenita, distal, X-linked | 2 | CTD_human;ORPHANET;UNIPROT |
| Hgene | UBA1 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| Tgene | FAT4 | C3809875 | VAN MALDERGEM SYNDROME 2 | 2 | UNIPROT |
| Tgene | FAT4 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Tgene | FAT4 | C0025202 | melanoma | 1 | CTD_human |
| Tgene | FAT4 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Tgene | FAT4 | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
| Tgene | FAT4 | C1691228 | Cystic Kidney Diseases | 1 | CTD_human |
| Tgene | FAT4 | C1832390 | Van Maldergem Wetzburger Verloes syndrome | 1 | CTD_human;ORPHANET |
| Tgene | FAT4 | C1842563 | Heterotopia, Periventricular, Autosomal Recessive | 1 | CTD_human |
| Tgene | FAT4 | C4014939 | HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 | 1 | UNIPROT |
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