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Fusion gene ID: 24857 |
FusionGeneSummary for NRIP1_BTBD1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NRIP1_BTBD1 | Fusion gene ID: 24857 | Hgene | Tgene | Gene symbol | NRIP1 | BTBD1 | Gene ID | 8204 | 53339 |
| Gene name | nuclear receptor interacting protein 1 | BTB domain containing 1 | |
| Synonyms | RIP140 | C15orf1|NS5ATP8 | |
| Cytomap | 21q11.2-q21.1 | 15q25.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | nuclear receptor-interacting protein 1nuclear factor RIP140receptor-interacting protein 140 | BTB/POZ domain-containing protein 1BTB (POZ) domain containing 1HCV NS5A-transactivated protein 8hepatitis C virus NS5A-transactivated protein 8 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P48552 | Q9H0C5 | |
| Ensembl transtripts involved in fusion gene | ENST00000318948, ENST00000400199, ENST00000400202, | ENST00000261721, ENST00000379403, ENST00000560015, | |
| Fusion gene scores | * DoF score | 10 X 3 X 7=210 | 3 X 3 X 3=27 |
| # samples | 10 | 3 | |
| ** MAII score | log2(10/210*10)=-1.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: NRIP1 [Title/Abstract] AND BTBD1 [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 | NRIP1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 10364267 |
| Hgene | NRIP1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 7641693|10364267 |
| Hgene | NRIP1 | GO:0071392 | cellular response to estradiol stimulus | 15831516 |
| 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 | CN412233 | NRIP1 | chr21 | 16386665 | - | BTBD1 | chr15 | 83710678 | - |
| * 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 |
| 5UTR-3CDS | ENST00000318948 | ENST00000261721 | NRIP1 | chr21 | 16386665 | - | BTBD1 | chr15 | 83710678 | - |
| 5UTR-3CDS | ENST00000318948 | ENST00000379403 | NRIP1 | chr21 | 16386665 | - | BTBD1 | chr15 | 83710678 | - |
| 5UTR-intron | ENST00000318948 | ENST00000560015 | NRIP1 | chr21 | 16386665 | - | BTBD1 | chr15 | 83710678 | - |
| intron-3CDS | ENST00000400199 | ENST00000261721 | NRIP1 | chr21 | 16386665 | - | BTBD1 | chr15 | 83710678 | - |
| intron-3CDS | ENST00000400199 | ENST00000379403 | NRIP1 | chr21 | 16386665 | - | BTBD1 | chr15 | 83710678 | - |
| intron-intron | ENST00000400199 | ENST00000560015 | NRIP1 | chr21 | 16386665 | - | BTBD1 | chr15 | 83710678 | - |
| 5UTR-3CDS | ENST00000400202 | ENST00000261721 | NRIP1 | chr21 | 16386665 | - | BTBD1 | chr15 | 83710678 | - |
| 5UTR-3CDS | ENST00000400202 | ENST00000379403 | NRIP1 | chr21 | 16386665 | - | BTBD1 | chr15 | 83710678 | - |
| 5UTR-intron | ENST00000400202 | ENST00000560015 | NRIP1 | chr21 | 16386665 | - | BTBD1 | chr15 | 83710678 | - |
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FusionProtFeatures for NRIP1_BTBD1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NRIP1 | BTBD1 |
| Modulates transcriptional activation by steroidreceptors such as NR3C1, NR3C2 and ESR1. Also modulatestranscriptional repression by nuclear hormone receptors. Positiveregulator of the circadian clock gene expression: stimulatestranscription of ARNTL/BMAL1, CLOCK and CRY1 by acting as acoactivator for RORA and RORC. {ECO:0000269|PubMed:10364267,ECO:0000269|PubMed:11509661, ECO:0000269|PubMed:11518808,ECO:0000269|PubMed:12554755, ECO:0000269|PubMed:15060175,ECO:0000269|PubMed:21628546, ECO:0000269|PubMed:7641693}. | Probable substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination andsubsequent proteasomal degradation of target proteins(PubMed:14528312). Seems to regulate expression levels and/orsubnuclear distribution of TOP1, via an unknown mechanism. Mayplay a role in mesenchymal differentiation where it promotesmyogenic differentiation and suppresses adipogenesis (Bysimilarity). {ECO:0000250|UniProtKB:P58544,ECO:0000250|UniProtKB:Q9H0C5, ECO:0000269|PubMed:14528312}. |
| 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 NRIP1_BTBD1 |
| 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 NRIP1_BTBD1 |
| 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 |
| NRIP1 | NR5A1, NR0B1, LDOC1, TEX11, CEP70, CTBP2, TRAF2, CCDC85B, CTBP1, HDAC5, RARA, NR3C1, YWHAQ, RXRA, ESR1, AHR, PPARA, PPARG, THRA, RXRB, JUN, PRMT1, HDAC3, CARM1, XPO1, KPNB1, ESRRA, ESRRB, ESRRG, ESR2, E2F1, ACTN2, CIB1, NR1H2, THRB, RORB, NR1H3, VDR, HNF4A, NR5A2, ELAVL1, CDK8, NR3C2, APP, FHL1, DNMT1, DNMT3A, DNMT3B, PPARGC1A, ARPC3, BRCA1, MAGEA10, HDAC1, HDAC2 | BTBD1 | TOP1, COPS6, CUL3, CUL5, COPS5, COPS3, COPS4, LRR1, FMOD, C9orf78, OTUD6B, UBXN1, EPN3, COPS2, PNMA1, OSGIN1, COPS7A, COPS7B, COPS8, BTBD2, FAM98A, UBE2M, TRAPPC10, TRAPPC9, FXR2, IQUB, TRAFD1, SPATA24, GPS1, CPN1, CSNK1E, CIR1, IKZF1, GLMN, PVRL2, CDC42SE1, TRAPPC4, TCP10L, AGMAT, LRRC4C, SYF2, DENR, CCDC74B, BMP7, TRAPPC5, WFDC2, BOD1, LGALS13, MTNR1B, 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 NRIP1_BTBD1 |
| 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 NRIP1_BTBD1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NRIP1 | C0014170 | Endometrial Neoplasms | 1 | CTD_human |
| Hgene | NRIP1 | C0018801 | Heart failure | 1 | CTD_human |
| Hgene | NRIP1 | C0027051 | Myocardial Infarction | 1 | CTD_human |
| Hgene | NRIP1 | C0036341 | Schizophrenia | 1 | CTD_human |
| Hgene | NRIP1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | BTBD1 | C0520757 | Delayed Emergence from Anesthesia | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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