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Fusion gene ID: 4443 |
FusionGeneSummary for BRIP1_UTP18 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BRIP1_UTP18 | Fusion gene ID: 4443 | Hgene | Tgene | Gene symbol | BRIP1 | UTP18 | Gene ID | 83990 | 51096 |
| Gene name | BRCA1 interacting protein C-terminal helicase 1 | UTP18, small subunit processome component | |
| Synonyms | BACH1|FANCJ|OF | CGI-48|WDR50 | |
| Cytomap | 17q23.2 | 17q21.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | Fanconi anemia group J proteinATP-dependent RNA helicase BRIP1BRCA1-associated C-terminal helicase 1BRCA1-binding helicase-like protein BACH1BRCA1/BRCA2-associated helicase 1 | U3 small nucleolar RNA-associated protein 18 homologUTP18, small subunit (SSU) processome component, homologWD repeat domain 50WD repeat-containing protein 50 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9BX63 | Q9Y5J1 | |
| Ensembl transtripts involved in fusion gene | ENST00000259008, ENST00000577598, ENST00000583837, | ENST00000225298, | |
| Fusion gene scores | * DoF score | 3 X 3 X 1=9 | 5 X 6 X 4=120 |
| # samples | 3 | 6 | |
| ** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: BRIP1 [Title/Abstract] AND UTP18 [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 | BRIP1 | GO:0006357 | regulation of transcription by RNA polymerase II | 14504288 |
| 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-A8-A09I-01A | BRIP1 | chr17 | 59924462 | - | UTP18 | chr17 | 49365390 | + |
| * 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 |
| In-frame | ENST00000259008 | ENST00000225298 | BRIP1 | chr17 | 59924462 | - | UTP18 | chr17 | 49365390 | + |
| Frame-shift | ENST00000577598 | ENST00000225298 | BRIP1 | chr17 | 59924462 | - | UTP18 | chr17 | 49365390 | + |
| intron-3CDS | ENST00000583837 | ENST00000225298 | BRIP1 | chr17 | 59924462 | - | UTP18 | chr17 | 49365390 | + |
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FusionProtFeatures for BRIP1_UTP18 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BRIP1 | UTP18 |
| DNA-dependent ATPase and 5' to 3' DNA helicase requiredfor the maintenance of chromosomal stability. Acts late in theFanconi anemia pathway, after FANCD2 ubiquitination. Involved inthe repair of DNA double-strand breaks by homologous recombinationin a manner that depends on its association with BRCA1.{ECO:0000269|PubMed:11301010, ECO:0000269|PubMed:14983014,ECO:0000269|PubMed:16116421, ECO:0000269|PubMed:16153896}. | Involved in nucleolar processing of pre-18S ribosomalRNA. {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 |
| Hgene | BRIP1 | chr17:59924462 | chr17:49365390 | ENST00000259008 | - | 6 | 20 | 158_175 | 209 | 1250 | Motif | Nuclear localization signal |
| Hgene | BRIP1 | chr17:59924462 | chr17:49365390 | ENST00000259008 | - | 6 | 20 | 185_192 | 209 | 1250 | Nucleotide binding | ATP |
| Tgene | >UTP18 | chr17:59924462 | chr17:49365390 | ENST00000225298 | + | 9 | 14 | 471_512 | 442 | 474 | Repeat | Note=WD 6 |
| - 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 |
| Hgene | >BRIP1 | chr17:59924462 | chr17:49365390 | ENST00000259008 | - | 6 | 20 | 11_442 | 209 | 1250 | Domain | Helicase ATP-binding |
| Hgene | >BRIP1 | chr17:59924462 | chr17:49365390 | ENST00000259008 | - | 6 | 20 | 393_396 | 209 | 1250 | Motif | Note=DEAH box |
| Tgene | UTP18 | chr17:59924462 | chr17:49365390 | ENST00000225298 | + | 9 | 14 | 249_288 | 442 | 474 | Repeat | Note=WD 1 |
| Tgene | UTP18 | chr17:59924462 | chr17:49365390 | ENST00000225298 | + | 9 | 14 | 293_333 | 442 | 474 | Repeat | Note=WD 2 |
| Tgene | UTP18 | chr17:59924462 | chr17:49365390 | ENST00000225298 | + | 9 | 14 | 339_380 | 442 | 474 | Repeat | Note=WD 3 |
| Tgene | UTP18 | chr17:59924462 | chr17:49365390 | ENST00000225298 | + | 9 | 14 | 381_419 | 442 | 474 | Repeat | Note=WD 4 |
| Tgene | UTP18 | chr17:59924462 | chr17:49365390 | ENST00000225298 | + | 9 | 14 | 421_462 | 442 | 474 | Repeat | Note=WD 5 |
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FusionGeneSequence for BRIP1_UTP18 |
| 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. |
| >In-frame_BRIP1_ENST00000259008_chr17_59924462_-_UTP18_ENST00000225298_chr17_49365390_+_323aa MSSMWSEYTIGGVKIYFPYKAYPSQLAMMNSILRGLNSKQHCLLESPTGSGKSLALLCSALAWQQSLSGKPADEGVSEKAEVQLSCCCAC HSKDFTNNDMNQGTSRHFNYPSTPPSERNGTSSTCQDSPEKTTLAAKLSAKKQASIYRDENDDFQVEKKRIRPLETTQQIRKRHCFGTEV HNLDAKVDSGKTVKLNSPLEKINSFSPQKFXLWSGKYIQSRFLSPRNKPKANKSYNELGYRCYFSDLQSYYRNLGNCFRKNERSSQIGSS |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_BRIP1_ENST00000259008_chr17_59924462_-_UTP18_ENST00000225298_chr17_49365390_+_970nt ATGTCTTCAATGTGGTCTGAATATACAATTGGTGGGGTGAAGATTTACTTTCCTTATAAAGCTTACCCGTCACAGCTTGCTATGATGAAT TCTATTCTCAGAGGATTAAACAGCAAGCAACATTGTTTGTTGGAGAGTCCCACAGGAAGTGGAAAAAGCTTAGCCTTACTTTGTTCTGCT TTAGCATGGCAACAATCTCTTAGTGGGAAACCAGCAGATGAGGGCGTAAGTGAAAAAGCTGAAGTACAATTGTCATGTTGTTGTGCATGC CATTCAAAGGATTTTACAAACAATGACATGAACCAAGGAACTTCACGTCATTTCAACTATCCAAGCACACCACCTTCTGAAAGAAATGGC ACTTCATCAACTTGTCAAGACTCCCCTGAAAAAACCACTCTGGCTGCAAAGTTATCTGCTAAGAAACAGGCATCCATATACAGAGATGAA AATGATGATTTTCAAGTAGAGAAGAAAAGAATTCGACCCTTAGAAACTACACAGCAGATTAGAAAACGTCATTGCTTTGGAACAGAAGTA CACAATTTGGATGCAAAAGTTGATTCAGGAAAGACTGTAAAACTCAACTCTCCACTGGAAAAGATAAACTCCTTTTCGCCACAGAAATTC TAATTGTGGAGTGGTAAATATATACAATCAAGATTCTTGTCTCCAAGAAACAAACCCAAAGCCAATAAAAGCTATAATGAACTTGGTTAC AGGTGTTACTTCTCTGACCTTCAATCCTACTACAGAAATCTTGGCAATTGCTTCAGAAAAAATGAAAGAAGCAGTCAGATTGGTTCATCT TCCTTCCTGTACAGTATTTTCAAACTTCCCAGTCATTAAAAATAAGAATATTTCTCATGTTCATACCATGGATTTTTCTCCGAGAAGTGG |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_BRIP1_ENST00000259008_chr17_59924462_-_UTP18_ENST00000225298_chr17_49365390_+_1404nt AATTCGTCTCGGGTTGTGTGGTTGAGGGGTCTGGTGGGTCGAGGAAAGGTAACGGCGGCCCCAGTCCTGCACACAAGGCCGGGGAAGTAG CAGCACCCCCAGGAAGAGGGAGGAGGAAGGGCTCGTGCCCTTTCTTCTCTTCCAGGGCTCCGCTTTATTTGCTCTCAGAAGTCGGTTTCC TTTCCTTTTCTTCAGTGAATCGGAGCTCAGAGCGTTGCTTCGGTTTCCCTCCAGACAGTTAGGAATCTGAAATAAACAGGAAAGCACTAT GTCTTCAATGTGGTCTGAATATACAATTGGTGGGGTGAAGATTTACTTTCCTTATAAAGCTTACCCGTCACAGCTTGCTATGATGAATTC TATTCTCAGAGGATTAAACAGCAAGCAACATTGTTTGTTGGAGAGTCCCACAGGAAGTGGAAAAAGCTTAGCCTTACTTTGTTCTGCTTT AGCATGGCAACAATCTCTTAGTGGGAAACCAGCAGATGAGGGCGTAAGTGAAAAAGCTGAAGTACAATTGTCATGTTGTTGTGCATGCCA TTCAAAGGATTTTACAAACAATGACATGAACCAAGGAACTTCACGTCATTTCAACTATCCAAGCACACCACCTTCTGAAAGAAATGGCAC TTCATCAACTTGTCAAGACTCCCCTGAAAAAACCACTCTGGCTGCAAAGTTATCTGCTAAGAAACAGGCATCCATATACAGAGATGAAAA TGATGATTTTCAAGTAGAGAAGAAAAGAATTCGACCCTTAGAAACTACACAGCAGATTAGAAAACGTCATTGCTTTGGAACAGAAGTACA CAATTTGGATGCAAAAGTTGATTCAGGAAAGACTGTAAAACTCAACTCTCCACTGGAAAAGATAAACTCCTTTTCGCCACAGAAATTCTA ATTGTGGAGTGGTAAATATATACAATCAAGATTCTTGTCTCCAAGAAACAAACCCAAAGCCAATAAAAGCTATAATGAACTTGGTTACAG GTGTTACTTCTCTGACCTTCAATCCTACTACAGAAATCTTGGCAATTGCTTCAGAAAAAATGAAAGAAGCAGTCAGATTGGTTCATCTTC CTTCCTGTACAGTATTTTCAAACTTCCCAGTCATTAAAAATAAGAATATTTCTCATGTTCATACCATGGATTTTTCTCCGAGAAGTGGAT ACTTTGCCTTGGGGAATGAAAAGGGCAAGGCCCTGATGTATAGGTTGCACCATTACTCAGACTTCTAAAGAGACTATTTGAAGTCCAGTT GAGTCACAAGAGAAGCCTGTCTTGATATATCATCTCAGAAACTTTCCTGAATATGTGATAATATATGGAAAATGATTTATAGATCCAGCT |
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FusionGenePPI for BRIP1_UTP18 |
| 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 |
| BRIP1 | BRCA1, MLH1, PMS1, PMS2, BLM, TOPBP1, RPA1, BARD1, MMS19, LMNA, HNRNPC, FHL3, POMK, GFOD1, C9orf41, LIPH, VAPB, USP37, CBX3, HIST1H3A, IL17RA, LYPD4, NCAPH2, TULP2, CRTAC1, PDDC1, DOCK5, AVIL, RAD51D, VWA5A, CRYL1, MSH2, FANCD2, BRIP1, MRE11A, RAD50, NBN, SPTA1, POLN | UTP18 | USP36, G3BP1, MARK2, SIRT7, CSNK2A1, HDAC11, RNF2, NIFK, FBL, RBM4B, MPHOSPH10, RBM19, NOP56, IFI16, ERBB2, XPO1, HNRNPU, CCT7, CCT3, HAVCR2, FOXA1, 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 |
| Hgene | BRIP1 | chr17:59924462 | chr17:49365390 | ENST00000259008 | - | 6 | 20 | 888_1063 | 209 | 1250 | BRCA1 |
| - 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 BRIP1_UTP18 |
| 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 BRIP1_UTP18 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | BRIP1 | C1836860 | FANCONI ANEMIA, COMPLEMENTATION GROUP J | 3 | CTD_human;UNIPROT |
| Hgene | BRIP1 | C0006142 | Malignant neoplasm of breast | 2 | UNIPROT |
| Hgene | BRIP1 | C0015625 | Fanconi Anemia | 1 | CTD_human;ORPHANET |
| Hgene | BRIP1 | C0919267 | ovarian neoplasm | 1 | CTD_human |
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