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Fusion gene ID: 30607 |
FusionGeneSummary for RB1_CNIH3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RB1_CNIH3 | Fusion gene ID: 30607 | Hgene | Tgene | Gene symbol | RB1 | CNIH3 | Gene ID | 5925 | 149111 |
| Gene name | RB transcriptional corepressor 1 | cornichon family AMPA receptor auxiliary protein 3 | |
| Synonyms | OSRC|PPP1R130|RB|p105-Rb|pRb|pp110 | CNIH-3 | |
| Cytomap | 13q14.2 | 1q42.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | retinoblastoma-associated proteinGOS563 exon 17 substitution mutation causes premature stopexon 17 tumor GOS561 substitution mutation causes premature stopprepro-retinoblastoma-associated proteinprotein phosphatase 1, regulatory subunit 130retinoblas | protein cornichon homolog 3cornichon homolog 3 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P06400 | Q8TBE1 | |
| Ensembl transtripts involved in fusion gene | ENST00000267163, ENST00000484879, | ENST00000483512, ENST00000272133, | |
| Fusion gene scores | * DoF score | 16 X 9 X 8=1152 | 6 X 4 X 5=120 |
| # samples | 16 | 6 | |
| ** MAII score | log2(16/1152*10)=-2.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). 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: RB1 [Title/Abstract] AND CNIH3 [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 | RB1 | GO:0043550 | regulation of lipid kinase activity | 16286473 |
| Hgene | RB1 | GO:0045892 | negative regulation of transcription, DNA-templated | 10783144|12065415|19223331 |
| Hgene | RB1 | GO:2000679 | positive regulation of transcription regulatory region DNA binding | 25100735 |
| Tgene | CNIH3 | GO:2000311 | regulation of AMPA receptor activity | 20805473 |
| 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 | RV | LUSC | TCGA-60-2695-01A | RB1 | chr13 | 48881542 | + | CNIH3 | chr1 | 224868660 | + |
| * 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 |
| 5CDS-intron | ENST00000267163 | ENST00000483512 | RB1 | chr13 | 48881542 | + | CNIH3 | chr1 | 224868660 | + |
| 5CDS-intron | ENST00000267163 | ENST00000272133 | RB1 | chr13 | 48881542 | + | CNIH3 | chr1 | 224868660 | + |
| intron-intron | ENST00000484879 | ENST00000483512 | RB1 | chr13 | 48881542 | + | CNIH3 | chr1 | 224868660 | + |
| intron-intron | ENST00000484879 | ENST00000272133 | RB1 | chr13 | 48881542 | + | CNIH3 | chr1 | 224868660 | + |
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FusionProtFeatures for RB1_CNIH3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RB1 | CNIH3 |
| Key regulator of entry into cell division that acts as atumor suppressor. Promotes G0-G1 transition when phosphorylated byCDK3/cyclin-C. Acts as a transcription repressor of E2F1 targetgenes. The underphosphorylated, active form of RB1 interacts withE2F1 and represses its transcription activity, leading to cellcycle arrest. Directly involved in heterochromatin formation bymaintaining overall chromatin structure and, in particular, thatof constitutive heterochromatin by stabilizing histonemethylation. Recruits and targets histone methyltransferasesSUV39H1, KMT5B and KMT5C, leading to epigenetic transcriptionalrepression. Controls histone H4 'Lys-20' trimethylation. Inhibitsthe intrinsic kinase activity of TAF1. Mediates transcriptionalrepression by SMARCA4/BRG1 by recruiting a histone deacetylase(HDAC) complex to the c-FOS promoter. In resting neurons,transcription of the c-FOS promoter is inhibited by BRG1-dependentrecruitment of a phospho-RB1-HDAC1 repressor complex. Upon calciuminflux, RB1 is dephosphorylated by calcineurin, which leads torelease of the repressor complex (By similarity). In case of viralinfections, interactions with SV40 large T antigen, HPV E7 proteinor adenovirus E1A protein induce the disassembly of RB1-E2F1complex thereby disrupting RB1's activity. {ECO:0000250,ECO:0000269|PubMed:15084261}. | Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targetingto the cell membrane and synapses and modulates their gatingproperties by regulating their rates of activation, deactivationand desensitization. {ECO:0000269|PubMed:20805473}. |
| 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 RB1_CNIH3 |
| 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 RB1_CNIH3 |
| 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 |
| RB1 | CUX1, MCM7, HBP1, TRAP1, AATF, THOC1, LIN9, BRCA1, ABL1, BCR, NCOA6, BAG1, RBBP8, HDAC1, AR, MORF4L2, SERPINB2, TP73, GNB2L1, CBX1, PELP1, PIK3R3, PPARG, HDAC3, RBBP4, E2F1, MORF4L1, MRFAP1, RBBP7, CDK2, DNMT1, HDAC2, ARID4A, NFIX, SP1, SMARCA4, MYOD1, DNMT3A, EID1, BRF1, PRDM2, SUV39H1, CBX5, CBX4, RING1, VDR, KDM5A, CCND3, PML, CCND1, TAF1, PA2G4, TMPO, MYC, TGM2, POLA1, FRK, ATF2, SNW1, ARID3B, SNAPC1, SNAPC3, CCNT2, CDK9, RAF1, E2F4, E4F1, ENC1, RFC1, LMNA, CREG1, CEBPB, HMGB1, PHB, MDM2, JUN, PAX6, MNAT1, RBBP5, E2F2, TRIP11, UBTF, AHR, ARNT, CCNA1, TFDP1, TFDP2, RBBP9, TBP, USP4, L3MBTL1, L3MBTL2, AURKB, CDK4, ZBTB7A, SKP2, HMGA2, KDM5B, KDM4A, STAT3, KDM1A, LIN54, SKI, SKIL, KAT2B, FOXM1, YY1, DNAJA2, SMYD2, UHRF2, TAL1, TCF3, LMO2, LDB1, IRF3, NPM1, CEBPA, KAT5, TRIM27, CCNE1, CDK5, CCND2, PSMA7, CCNA2, CDK1, PSMD10, CDC27, ANAPC2, CDC16, FZR1, MAPK14, TP53, PPP1CA, CDK6, RNF40, UHRF1, UBR4, RBAK, SPI1, E2F3, CHEK2, CHEK1, CEBPD, MDM4, PAX2, PNO1, GTF2H1, PURA, CCNB1, RINT1, FOS, CDK14, PPIA, TOP2A, NOTCH1, RUNX2, ID2, CDK3, DGKZ, INS, HIST4H4, PRMT2, CASP3, CASP6, CASP7, CASP8, CASP9, CASP10, MAPK8, UBE2I, CEBPE, MRPS18B, CCNC, PRKCB, TFAP2A, PAX5, HIF1A, CDKN1A, CDKN1C, HDAC11, PLA2G12A, MAGEA11, NEFM, DYRK1A, DYRK1B, USP7, KDM2A, EP300, SIRT1, PAX8, KLK11, RFPL2, FAS, TFDP3, CTBP1, C3orf62, CDK13, NTRK1, RBBP6, GTF3C2, GRB2, RABGAP1L, CHN2, ANKS1A, CLNK, MED23, BAG6, UBL4A, HERC4, RPRD1B, RBM26, FOXA3, FOXK1, FOXK2, FOXO1, FOXO3, PPP1R26, NFATC2, BRD4, FAM208A, RFC5, PPAN, KIAA0430, HELZ, PCGF3, HSP90AA1, WEE1, TUBA1A | CNIH3 | LMNA |
| - 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 RB1_CNIH3 |
| 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 |
| Hgene | RB1 | P06400 | DB00071 | Insulin Pork | Retinoblastoma-associated protein | biotech | approved |
| Hgene | RB1 | P06400 | DB00030 | Insulin Human | Retinoblastoma-associated protein | biotech | approved|investigational |
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RelatedDiseases for RB1_CNIH3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RB1 | C0035335 | Retinoblastoma | 9 | CTD_human;HPO;UNIPROT |
| Hgene | RB1 | C1458155 | Mammary Neoplasms | 3 | CTD_human |
| Hgene | RB1 | C0149925 | Small cell carcinoma of lung | 2 | CTD_human;ORPHANET |
| Hgene | RB1 | C2239176 | Liver carcinoma | 2 | CTD_human |
| Hgene | RB1 | C0001624 | Adrenal Gland Neoplasms | 1 | CTD_human |
| Hgene | RB1 | C0007117 | Basal cell carcinoma | 1 | CTD_human |
| Hgene | RB1 | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| Hgene | RB1 | C0007786 | Brain Ischemia | 1 | CTD_human |
| Hgene | RB1 | C0023904 | Liver Neoplasms, Experimental | 1 | CTD_human |
| Hgene | RB1 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| Hgene | RB1 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| Hgene | RB1 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Hgene | RB1 | C0027659 | Neoplasms, Experimental | 1 | CTD_human |
| Hgene | RB1 | C0029463 | Osteosarcoma | 1 | CTD_human;HPO |
| Hgene | RB1 | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
| Hgene | RB1 | C0036920 | Sezary Syndrome | 1 | CTD_human |
| Hgene | RB1 | C0038325 | Stevens-Johnson Syndrome | 1 | CTD_human |
| Hgene | RB1 | C0206686 | Adrenocortical carcinoma | 1 | CTD_human |
| Hgene | RB1 | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
| Hgene | RB1 | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CTD_human |
| Tgene | CNIH3 | C0014175 | Endometriosis | 1 | CTD_human |
| Tgene | CNIH3 | C0036341 | Schizophrenia | 1 | PSYGENET |
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