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Fusion gene ID: 7246 |
FusionGeneSummary for CIR1_NFE2L2 |
Fusion gene summary |
Fusion gene information | Fusion gene name: CIR1_NFE2L2 | Fusion gene ID: 7246 | Hgene | Tgene | Gene symbol | CIR1 | NFE2L2 | Gene ID | 9541 | 4780 |
Gene name | corepressor interacting with RBPJ, 1 | nuclear factor, erythroid 2 like 2 | |
Synonyms | CIR | HEBP1|IMDDHH|NRF2 | |
Cytomap | 2q31.1 | 2q31.2 | |
Type of gene | protein-coding | protein-coding | |
Description | corepressor interacting with RBPJ 1CBF1-interacting corepressorrecepin | nuclear factor erythroid 2-related factor 2nuclear factor erythroid-derived 2-like 2 | |
Modification date | 20180527 | 20180527 | |
UniProtAcc | Q86X95 | Q16236 | |
Ensembl transtripts involved in fusion gene | ENST00000342016, ENST00000362053, | ENST00000397063, ENST00000397062, ENST00000446151, ENST00000464747, ENST00000423513, | |
Fusion gene scores | * DoF score | 4 X 4 X 4=64 | 9 X 14 X 5=630 |
# samples | 4 | 15 | |
** MAII score | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(15/630*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CIR1 [Title/Abstract] AND NFE2L2 [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 | CIR1 | GO:0045892 | negative regulation of transcription, DNA-templated | 9874765 |
Tgene | NFE2L2 | GO:0010499 | proteasomal ubiquitin-independent protein catabolic process | 19424503 |
Tgene | NFE2L2 | GO:0016567 | protein ubiquitination | 15983046 |
Tgene | NFE2L2 | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | 15983046 |
Tgene | NFE2L2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 17015834 |
Tgene | NFE2L2 | GO:0071498 | cellular response to fluid shear stress | 25190803 |
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 | HNSC | TCGA-CQ-A4C9-01A | CIR1 | chr2 | 175260329 | - | NFE2L2 | chr2 | 178148533 | - |
* 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-intron | ENST00000342016 | ENST00000397063 | CIR1 | chr2 | 175260329 | - | NFE2L2 | chr2 | 178148533 | - |
intron-intron | ENST00000342016 | ENST00000397062 | CIR1 | chr2 | 175260329 | - | NFE2L2 | chr2 | 178148533 | - |
intron-intron | ENST00000342016 | ENST00000446151 | CIR1 | chr2 | 175260329 | - | NFE2L2 | chr2 | 178148533 | - |
intron-intron | ENST00000342016 | ENST00000464747 | CIR1 | chr2 | 175260329 | - | NFE2L2 | chr2 | 178148533 | - |
intron-intron | ENST00000342016 | ENST00000423513 | CIR1 | chr2 | 175260329 | - | NFE2L2 | chr2 | 178148533 | - |
intron-intron | ENST00000362053 | ENST00000397063 | CIR1 | chr2 | 175260329 | - | NFE2L2 | chr2 | 178148533 | - |
intron-intron | ENST00000362053 | ENST00000397062 | CIR1 | chr2 | 175260329 | - | NFE2L2 | chr2 | 178148533 | - |
intron-intron | ENST00000362053 | ENST00000446151 | CIR1 | chr2 | 175260329 | - | NFE2L2 | chr2 | 178148533 | - |
intron-intron | ENST00000362053 | ENST00000464747 | CIR1 | chr2 | 175260329 | - | NFE2L2 | chr2 | 178148533 | - |
intron-intron | ENST00000362053 | ENST00000423513 | CIR1 | chr2 | 175260329 | - | NFE2L2 | chr2 | 178148533 | - |
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FusionProtFeatures for CIR1_NFE2L2 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
CIR1 | NFE2L2 |
May modulate splice site selection during alternativesplicing of pre-mRNAs (By similarity). Regulates transcription andacts as corepressor for RBPJ. Recruits RBPJ to the Sin3-histonedeacetylase complex (HDAC). Required for RBPJ-mediated repressionof transcription. {ECO:0000250, ECO:0000269|PubMed:19409814,ECO:0000269|PubMed:9874765}. | Transcription activator that binds to antioxidantresponse (ARE) elements in the promoter regions of target genes.Important for the coordinated up-regulation of genes in responseto oxidative stress and the regulation of cellular redoxconditions. May be involved in the transcriptional activation ofgenes of the beta-globin cluster by mediating enhancer activity ofhypersensitive site 2 of the beta-globin locus control region.{ECO:0000269|PubMed:11035812, ECO:0000269|PubMed:29018201}. |
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 CIR1_NFE2L2 |
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 CIR1_NFE2L2 |
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 |
CIR1 | SNW1, RBPJ, SAP30, NCOR2, RP9, SRSF2, SRSF1, U2AF1, NEK6, CEP76, FANCI, AGO3, CCNYL1, UBR3, GCA, BTBD1, DCAF10, CDCA3, RBM12, CTNNA2, EPHA2 | NFE2L2 | CREBBP, PMF1, EIF2AK3, KEAP1, MAFK, MAFF, JUN, TRIM24, SMARCA4, CUL3, NCOR2, NCOR1, YY1, MYC, BACH1, PRKCD, PRKCA, PRKCQ, PRKCH, PRKCG, SQSTM1, GADD45GIP1, CDKN1A, GSK3B, PGAM5, UBE2E3, UBE2E2, COPS7A, ENC1, MAFG, BPTF, SUMO1, SUMO2, RNF4, SIAH2, NFE2L3, NFE2, ATF4, CREB3, AHR, KPNA3, RBMX, NQO1, BRCA1, AKT1, MAPK8, MAPK9, MAP2K1, MAP2K2, MAPK7, HDAC1, HDAC2, HDAC3, FBXW11, TNNT1, WAC, TCF20, UBC, BTRC, TRIM28, RBM45, MAF, CDH1, PAQR3, PPP1R13L, DCAF11 |
- 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 CIR1_NFE2L2 |
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 CIR1_NFE2L2 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | NFE2L2 | C4277682 | Chemical and Drug Induced Liver Injury | 4 | CTD_human |
Tgene | NFE2L2 | C0007131 | Non-Small Cell Lung Carcinoma | 2 | CTD_human |
Tgene | NFE2L2 | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
Tgene | NFE2L2 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
Tgene | NFE2L2 | C0008370 | Cholestasis | 1 | CTD_human |
Tgene | NFE2L2 | C0011881 | Diabetic Nephropathy | 1 | CTD_human |
Tgene | NFE2L2 | C0013990 | Pathological accumulation of air in tissues | 1 | CTD_human |
Tgene | NFE2L2 | C0014072 | Experimental Autoimmune Encephalomyelitis | 1 | CTD_human |
Tgene | NFE2L2 | C0014170 | Endometrial Neoplasms | 1 | CTD_human |
Tgene | NFE2L2 | C0017178 | Gastrointestinal Diseases | 1 | CTD_human |
Tgene | NFE2L2 | C0020456 | Hyperglycemia | 1 | CTD_human |
Tgene | NFE2L2 | C0020507 | Hyperplasia | 1 | CTD_human |
Tgene | NFE2L2 | C0022593 | Keratosis | 1 | CTD_human |
Tgene | NFE2L2 | C0022658 | Kidney Diseases | 1 | CTD_human |
Tgene | NFE2L2 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
Tgene | NFE2L2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | NFE2L2 | C0023903 | Liver neoplasms | 1 | CTD_human |
Tgene | NFE2L2 | C0027540 | Necrosis | 1 | CTD_human |
Tgene | NFE2L2 | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
Tgene | NFE2L2 | C0037286 | Skin Neoplasms | 1 | CTD_human |
Tgene | NFE2L2 | C0041755 | Adverse reaction to drug | 1 | CTD_human |
Tgene | NFE2L2 | C0085215 | Ovarian Failure, Premature | 1 | CTD_human |
Tgene | NFE2L2 | C0162820 | Dermatitis, Allergic Contact | 1 | CTD_human |
Tgene | NFE2L2 | C0235032 | Neurotoxicity Syndromes | 1 | CTD_human |
Tgene | NFE2L2 | C0242488 | Acute Lung Injury | 1 | CTD_human |
Tgene | NFE2L2 | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
Tgene | NFE2L2 | C0400966 | Non-alcoholic Fatty Liver Disease | 1 | CTD_human |
Tgene | NFE2L2 | C0887833 | Carcinoma, Pancreatic Ductal | 1 | CTD_human |
Tgene | NFE2L2 | C2239176 | Liver carcinoma | 1 | CTD_human |
Tgene | NFE2L2 | C2609414 | Acute kidney injury | 1 | CTD_human |