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Fusion gene ID: 5721 |
FusionGeneSummary for CBX5_SMUG1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CBX5_SMUG1 | Fusion gene ID: 5721 | Hgene | Tgene | Gene symbol | CBX5 | SMUG1 | Gene ID | 23468 | 23583 |
| Gene name | chromobox 5 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
| Synonyms | HEL25|HP1|HP1A | FDG|HMUDG|UNG3 | |
| Cytomap | 12q13.13 | 12q13.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | chromobox protein homolog 5HP1 alpha homologHP1-ALPHAHP1Hs alphaantigen p25chromobox homolog 5 (HP1 alpha homolog, Drosophila)epididymis luminal protein 25heterochromatin protein 1 homolog alphaheterochromatin protein 1-alpha | single-strand selective monofunctional uracil DNA glycosylase | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | P45973 | Q53HV7 | |
| Ensembl transtripts involved in fusion gene | ENST00000209875, ENST00000439541, ENST00000550411, | ENST00000508394, ENST00000506595, ENST00000514685, ENST00000505128, ENST00000337581, ENST00000513838, ENST00000243112, ENST00000505662, ENST00000401977, ENST00000514196, | |
| Fusion gene scores | * DoF score | 9 X 7 X 8=504 | 1 X 1 X 1=1 |
| # samples | 10 | 1 | |
| ** MAII score | log2(10/504*10)=-2.33342373372519 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: CBX5 [Title/Abstract] AND SMUG1 [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 | CBX5 | GO:0045892 | negative regulation of transcription, DNA-templated | 9636147 |
| Tgene | SMUG1 | GO:0006284 | base-excision repair | 12161446 |
| 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 | STAD | TCGA-VQ-A928-01A | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| * 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-intron | ENST00000209875 | ENST00000508394 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| 5UTR-intron | ENST00000209875 | ENST00000506595 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| 5UTR-intron | ENST00000209875 | ENST00000514685 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| 5UTR-intron | ENST00000209875 | ENST00000505128 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| 5UTR-intron | ENST00000209875 | ENST00000337581 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| 5UTR-intron | ENST00000209875 | ENST00000513838 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| 5UTR-intron | ENST00000209875 | ENST00000243112 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| 5UTR-intron | ENST00000209875 | ENST00000505662 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| 5UTR-intron | ENST00000209875 | ENST00000401977 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| 5UTR-intron | ENST00000209875 | ENST00000514196 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| intron-intron | ENST00000439541 | ENST00000508394 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| intron-intron | ENST00000439541 | ENST00000506595 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| intron-intron | ENST00000439541 | ENST00000514685 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| intron-intron | ENST00000439541 | ENST00000505128 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| intron-intron | ENST00000439541 | ENST00000337581 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| intron-intron | ENST00000439541 | ENST00000513838 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| intron-intron | ENST00000439541 | ENST00000243112 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| intron-intron | ENST00000439541 | ENST00000505662 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| intron-intron | ENST00000439541 | ENST00000401977 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| intron-intron | ENST00000439541 | ENST00000514196 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| intron-intron | ENST00000550411 | ENST00000508394 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| intron-intron | ENST00000550411 | ENST00000506595 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| intron-intron | ENST00000550411 | ENST00000514685 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| intron-intron | ENST00000550411 | ENST00000505128 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| intron-intron | ENST00000550411 | ENST00000337581 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| intron-intron | ENST00000550411 | ENST00000513838 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| intron-intron | ENST00000550411 | ENST00000243112 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| intron-intron | ENST00000550411 | ENST00000505662 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| intron-intron | ENST00000550411 | ENST00000401977 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
| intron-intron | ENST00000550411 | ENST00000514196 | CBX5 | chr12 | 54673792 | - | SMUG1 | chr12 | 54565893 | - |
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FusionProtFeatures for CBX5_SMUG1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CBX5 | SMUG1 |
| Component of heterochromatin that recognizes and bindshistone H3 tails methylated at 'Lys-9' (H3K9me), leading toepigenetic repression. In contrast, it is excluded from chromatinwhen 'Tyr-41' of histone H3 is phosphorylated (H3Y41ph). Caninteract with lamin-B receptor (LBR). This interaction cancontribute to the association of the heterochromatin with theinner nuclear membrane. Involved in the formation of functionalkinetochore through interaction with MIS12 complex proteins.{ECO:0000269|PubMed:19783980}. | Recognizes base lesions in the genome and initiates baseexcision DNA repair. Acts as a monofunctional DNA glycosylasespecific for uracil (U) residues in DNA with a preference forsingle-stranded DNA substrates. The activity is greater towardmismatches (U/G) compared to matches (U/A). Excises uracil (U), 5-formyluracil (fU) and uracil derivatives bearing an oxidized groupat C5 [5-hydroxyuracil (hoU) and 5-hydroxymethyluracil (hmU)] inssDNA and dsDNA, but not analogous cytosine derivatives (5-hydroxycytosine and 5-formylcytosine), nor other oxidized bases.The activity is damage-specific and salt-dependent. The substratepreference is the following: ssDNA > dsDNA (G pair) = dsDNA (Apair) at low salt concentration, and dsDNA (G pair) > dsDNA (Apair) > ssDNA at high salt concentration.{ECO:0000269|PubMed:10074426, ECO:0000269|PubMed:11526119,ECO:0000269|PubMed:12161446, ECO:0000269|PubMed:12718543}. |
| 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 CBX5_SMUG1 |
| 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 CBX5_SMUG1 |
| 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 |
| CBX5 | XRCC6, SUV39H1, LBR, PRR14, TCEB3B, MIS12, DSN1, NSL1, RPSA, DNMT3B, DNMT1, DNMT3A, MBD1, CHAF1A, CHAF1B, SMARCA4, TRIM28, RB1, TAF4, TBP, CBX1, CBX3, CBX5, HIST3H2A, HIST3H2BB, HIST4H4, HIST2H3A, ARL5A, SP100, L3MBTL1, MECP2, ATRX, CHD1L, SETDB1, SUV420H2, HIST1H3A, PARP2, HDLBP, STAM2, NIPBL, CHD4, RBBP4, BCL11B, NR2F1, SP1, EHMT2, H3F3A, ORC2, HIST3H3, SUB1, SMARCA2, LRIF1, ARHGDIA, AURKB, SGOL1, HIST1H1B, ADNP, ADNP2, KLF11, H2AFX, VHL, FSHR, HIST1H1E, H2AFY, H2AFY2, HIST1H3B, POGZ, ZNF462, CHAMP1, KPNA2, EHMT1, KPNA3, SUV39H2, KPNA4, RPL26, SENP7, ZNF829, ACTL6A, WIZ, ZNF483, RPL26P30, ZNF8, ZMYM3, ZNF280D, AHDC1, ZNF324, ZNF302, IPO8, ZNF747, ZFP1, PPP2CB, RBBP4P1, RBBP7, CDCA8, SCAI, INCENP, PPP2CA, ZNF568, ZNF764, ZNF460, ZNF625, MAU2, ZNF773, BGLAP, NARF, MAP7D3, TIMM50, PPP2R5A, ZNF689, ZNF566, ZNF569, ZNF227, ZNF264, ZNF324B, PPP2R5E, SUZ12, ZNF585B, ZNF585A, ZNF620, ZNF688, ZFP82, ZNF552, RPL5, ZNF274, ZNF45, ZNF195, BCL7A, ZNF649, ZNF518A, TRIM39, MCC, TCEB1, XRN1, SRPK2, SRPK1, RARA, ZBTB16, VPS28, WHSC1L1, GOLGA8EP, UBE2A, UBE2B, MAP1LC3A, NCL, MAD2L2, CUL7, OBSL1, ABCE1, ZNF621, ZNF114, ZNF562, UNK, IFI16, HIST1H3E, DAXX, NLRP3, NOP9, RRP1B, BARD1, BRCA1, STAT5A, NFATC2, BMI1, TCAP, CPLX4, ENSA, ZNF354C, XAGE2, FAM19A3, ZNF785, NPB, LRCH3, FOXA1, GTF2IRD1 | SMUG1 | TRIP13, RBPMS, UNG, VAC14, 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 CBX5_SMUG1 |
| 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 CBX5_SMUG1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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