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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:BRIP1-UTP18 (FusionGDB2 ID:HG83990TG51096) |
Fusion Gene Summary for BRIP1-UTP18 |
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Fusion gene information | Fusion gene name: BRIP1-UTP18 | Fusion gene ID: hg83990tg51096 | 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 | ('BRIP1')('UTP18') 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 | 20200315 | 20200313 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000577598, ENST00000259008, ENST00000583837, | ENST00000259008, ENST00000577598, ENST00000583837, | |
Fusion gene scores | * DoF score | 3 X 4 X 1=12 | 7 X 13 X 5=455 |
# samples | 4 | 12 | |
** MAII score | log2(4/12*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(12/455*10)=-1.92283213947754 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] | ||
Most frequent breakpoint | BRIP1(59924462)-UTP18(49365390), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | BRIP1-UTP18 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. BRIP1-UTP18 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. BRIP1-UTP18 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. BRIP1-UTP18 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. BRIP1-UTP18 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. BRIP1-UTP18 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. BRIP1-UTP18 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. UTP18-BRIP1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. UTP18-BRIP1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. UTP18-BRIP1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | BRIP1 | GO:0006357 | regulation of transcription by RNA polymerase II | 14504288 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | BRCA | TCGA-A8-A09I-01A | BRIP1 | chr17 | 59924462 | - | UTP18 | chr17 | 49365390 | + |
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Fusion Gene ORF analysis for BRIP1-UTP18 |
![]() * 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 | ENST00000577598 | ENST00000225298 | BRIP1 | chr17 | 59924462 | - | UTP18 | chr17 | 49365390 | + |
In-frame | ENST00000259008 | ENST00000225298 | BRIP1 | chr17 | 59924462 | - | UTP18 | chr17 | 49365390 | + |
intron-3CDS | ENST00000583837 | ENST00000225298 | BRIP1 | chr17 | 59924462 | - | UTP18 | chr17 | 49365390 | + |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000259008 | BRIP1 | chr17 | 59924462 | - | ENST00000225298 | UTP18 | chr17 | 49365390 | + | 1404 | 895 | 268 | 900 | 210 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000259008 | ENST00000225298 | BRIP1 | chr17 | 59924462 | - | UTP18 | chr17 | 49365390 | + | 0.001945413 | 0.9980546 |
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Fusion Genomic Features for BRIP1-UTP18 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
BRIP1 | chr17 | 59924461 | - | UTP18 | chr17 | 49365389 | + | 0.000657659 | 0.9993424 |
BRIP1 | chr17 | 59924461 | - | UTP18 | chr17 | 49365389 | + | 0.000657659 | 0.9993424 |
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Fusion Protein Features for BRIP1-UTP18 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr17:59924462/chr17:49365390) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
. | . |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
![]() * 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 | 1250.0 | Motif | Nuclear localization signal |
Hgene | BRIP1 | chr17:59924462 | chr17:49365390 | ENST00000259008 | - | 6 | 20 | 185_192 | 209 | 1250.0 | Nucleotide binding | ATP |
Tgene | UTP18 | chr17:59924462 | chr17:49365390 | ENST00000225298 | 9 | 14 | 471_512 | 442 | 474.6666666666667 | 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 | 1250.0 | Domain | Helicase ATP-binding |
Hgene | BRIP1 | chr17:59924462 | chr17:49365390 | ENST00000259008 | - | 6 | 20 | 393_396 | 209 | 1250.0 | Motif | Note=DEAH box |
Tgene | UTP18 | chr17:59924462 | chr17:49365390 | ENST00000225298 | 9 | 14 | 249_288 | 442 | 474.6666666666667 | Repeat | Note=WD 1 | |
Tgene | UTP18 | chr17:59924462 | chr17:49365390 | ENST00000225298 | 9 | 14 | 293_333 | 442 | 474.6666666666667 | Repeat | Note=WD 2 | |
Tgene | UTP18 | chr17:59924462 | chr17:49365390 | ENST00000225298 | 9 | 14 | 339_380 | 442 | 474.6666666666667 | Repeat | Note=WD 3 | |
Tgene | UTP18 | chr17:59924462 | chr17:49365390 | ENST00000225298 | 9 | 14 | 381_419 | 442 | 474.6666666666667 | Repeat | Note=WD 4 | |
Tgene | UTP18 | chr17:59924462 | chr17:49365390 | ENST00000225298 | 9 | 14 | 421_462 | 442 | 474.6666666666667 | Repeat | Note=WD 5 |
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Fusion Gene Sequence for BRIP1-UTP18 |
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>10290_10290_1_BRIP1-UTP18_BRIP1_chr17_59924462_ENST00000259008_UTP18_chr17_49365390_ENST00000225298_length(transcript)=1404nt_BP=895nt AATTCGTCTCGGGTTGTGTGGTTGAGGGGTCTGGTGGGTCGAGGAAAGGTAACGGCGGCCCCAGTCCTGCACACAAGGCCGGGGAAGTAG CAGCACCCCCAGGAAGAGGGAGGAGGAAGGGCTCGTGCCCTTTCTTCTCTTCCAGGGCTCCGCTTTATTTGCTCTCAGAAGTCGGTTTCC TTTCCTTTTCTTCAGTGAATCGGAGCTCAGAGCGTTGCTTCGGTTTCCCTCCAGACAGTTAGGAATCTGAAATAAACAGGAAAGCACTAT GTCTTCAATGTGGTCTGAATATACAATTGGTGGGGTGAAGATTTACTTTCCTTATAAAGCTTACCCGTCACAGCTTGCTATGATGAATTC TATTCTCAGAGGATTAAACAGCAAGCAACATTGTTTGTTGGAGAGTCCCACAGGAAGTGGAAAAAGCTTAGCCTTACTTTGTTCTGCTTT AGCATGGCAACAATCTCTTAGTGGGAAACCAGCAGATGAGGGCGTAAGTGAAAAAGCTGAAGTACAATTGTCATGTTGTTGTGCATGCCA TTCAAAGGATTTTACAAACAATGACATGAACCAAGGAACTTCACGTCATTTCAACTATCCAAGCACACCACCTTCTGAAAGAAATGGCAC TTCATCAACTTGTCAAGACTCCCCTGAAAAAACCACTCTGGCTGCAAAGTTATCTGCTAAGAAACAGGCATCCATATACAGAGATGAAAA TGATGATTTTCAAGTAGAGAAGAAAAGAATTCGACCCTTAGAAACTACACAGCAGATTAGAAAACGTCATTGCTTTGGAACAGAAGTACA CAATTTGGATGCAAAAGTTGATTCAGGAAAGACTGTAAAACTCAACTCTCCACTGGAAAAGATAAACTCCTTTTCGCCACAGAAATTCTA ATTGTGGAGTGGTAAATATATACAATCAAGATTCTTGTCTCCAAGAAACAAACCCAAAGCCAATAAAAGCTATAATGAACTTGGTTACAG GTGTTACTTCTCTGACCTTCAATCCTACTACAGAAATCTTGGCAATTGCTTCAGAAAAAATGAAAGAAGCAGTCAGATTGGTTCATCTTC CTTCCTGTACAGTATTTTCAAACTTCCCAGTCATTAAAAATAAGAATATTTCTCATGTTCATACCATGGATTTTTCTCCGAGAAGTGGAT ACTTTGCCTTGGGGAATGAAAAGGGCAAGGCCCTGATGTATAGGTTGCACCATTACTCAGACTTCTAAAGAGACTATTTGAAGTCCAGTT GAGTCACAAGAGAAGCCTGTCTTGATATATCATCTCAGAAACTTTCCTGAATATGTGATAATATATGGAAAATGATTTATAGATCCAGCT >10290_10290_1_BRIP1-UTP18_BRIP1_chr17_59924462_ENST00000259008_UTP18_chr17_49365390_ENST00000225298_length(amino acids)=210AA_BP= MSSMWSEYTIGGVKIYFPYKAYPSQLAMMNSILRGLNSKQHCLLESPTGSGKSLALLCSALAWQQSLSGKPADEGVSEKAEVQLSCCCAC HSKDFTNNDMNQGTSRHFNYPSTPPSERNGTSSTCQDSPEKTTLAAKLSAKKQASIYRDENDDFQVEKKRIRPLETTQQIRKRHCFGTEV -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for BRIP1-UTP18 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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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 | 209.0 | 1250.0 | BRCA1 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for BRIP1-UTP18 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for BRIP1-UTP18 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | BRIP1 | C1836860 | FANCONI ANEMIA, COMPLEMENTATION GROUP J | 9 | CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | BRIP1 | C0006142 | Malignant neoplasm of breast | 4 | CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | BRIP1 | C0015625 | Fanconi Anemia | 3 | CTD_human;GENOMICS_ENGLAND |
Hgene | BRIP1 | C0023418 | leukemia | 1 | CGI;GENOMICS_ENGLAND |
Hgene | BRIP1 | C0023465 | Acute monocytic leukemia | 1 | GENOMICS_ENGLAND |
Hgene | BRIP1 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CGI;GENOMICS_ENGLAND |
Hgene | BRIP1 | C0030312 | Pancytopenia | 1 | GENOMICS_ENGLAND |
Hgene | BRIP1 | C0265219 | Miller Dieker syndrome | 1 | GENOMICS_ENGLAND |
Hgene | BRIP1 | C0496956 | Neoplasm of uncertain or unknown behavior of breast | 1 | CGI;GENOMICS_ENGLAND |
Hgene | BRIP1 | C0677776 | Hereditary Breast and Ovarian Cancer Syndrome | 1 | ORPHANET |
Hgene | BRIP1 | C0919267 | ovarian neoplasm | 1 | CTD_human |
Hgene | BRIP1 | C1140680 | Malignant neoplasm of ovary | 1 | CTD_human;UNIPROT |
Hgene | BRIP1 | C1855710 | Bone marrow hypocellularity | 1 | GENOMICS_ENGLAND |
Hgene | BRIP1 | C3463824 | MYELODYSPLASTIC SYNDROME | 1 | GENOMICS_ENGLAND |
Hgene | BRIP1 | C4228778 | Abnormality of radial ray | 1 | GENOMICS_ENGLAND |