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Fusion gene ID: 5427 |
FusionGeneSummary for CANX_KDM5B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CANX_KDM5B | Fusion gene ID: 5427 | Hgene | Tgene | Gene symbol | CANX | KDM5B | Gene ID | 821 | 10765 |
| Gene name | calnexin | lysine demethylase 5B | |
| Synonyms | CNX|IP90|P90 | CT31|JARID1B|PLU-1|PLU1|PPP1R98|PUT1|RBBP2H1A|RBP2-H1 | |
| Cytomap | 5q35.3 | 1q32.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | calnexinmajor histocompatibility complex class I antigen-binding protein p88 | lysine-specific demethylase 5Bcancer/testis antigen 31histone demethylase JARID1Bjumonji, AT rich interactive domain 1Bjumonji/ARID domain-containing protein 1Blysine (K)-specific demethylase 5Bprotein phosphatase 1, regulatory subunit 98putative D | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | P27824 | Q9UGL1 | |
| Ensembl transtripts involved in fusion gene | ENST00000504734, ENST00000415618, ENST00000452673, ENST00000247461, ENST00000512607, ENST00000503126, | ENST00000367265, ENST00000367264, ENST00000456180, | |
| Fusion gene scores | * DoF score | 9 X 11 X 4=396 | 5 X 5 X 3=75 |
| # samples | 12 | 5 | |
| ** MAII score | log2(12/396*10)=-1.72246602447109 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CANX [Title/Abstract] AND KDM5B [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 |
| Tgene | KDM5B | GO:0034720 | histone H3-K4 demethylation | 20228790 |
| 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 | BG009982 | CANX | chr5 | 179155948 | - | KDM5B | chr1 | 202712323 | - |
| * 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 | ENST00000504734 | ENST00000367265 | CANX | chr5 | 179155948 | - | KDM5B | chr1 | 202712323 | - |
| intron-intron | ENST00000504734 | ENST00000367264 | CANX | chr5 | 179155948 | - | KDM5B | chr1 | 202712323 | - |
| intron-intron | ENST00000504734 | ENST00000456180 | CANX | chr5 | 179155948 | - | KDM5B | chr1 | 202712323 | - |
| intron-intron | ENST00000415618 | ENST00000367265 | CANX | chr5 | 179155948 | - | KDM5B | chr1 | 202712323 | - |
| intron-intron | ENST00000415618 | ENST00000367264 | CANX | chr5 | 179155948 | - | KDM5B | chr1 | 202712323 | - |
| intron-intron | ENST00000415618 | ENST00000456180 | CANX | chr5 | 179155948 | - | KDM5B | chr1 | 202712323 | - |
| 3UTR-intron | ENST00000452673 | ENST00000367265 | CANX | chr5 | 179155948 | - | KDM5B | chr1 | 202712323 | - |
| 3UTR-intron | ENST00000452673 | ENST00000367264 | CANX | chr5 | 179155948 | - | KDM5B | chr1 | 202712323 | - |
| 3UTR-intron | ENST00000452673 | ENST00000456180 | CANX | chr5 | 179155948 | - | KDM5B | chr1 | 202712323 | - |
| 3UTR-intron | ENST00000247461 | ENST00000367265 | CANX | chr5 | 179155948 | - | KDM5B | chr1 | 202712323 | - |
| 3UTR-intron | ENST00000247461 | ENST00000367264 | CANX | chr5 | 179155948 | - | KDM5B | chr1 | 202712323 | - |
| 3UTR-intron | ENST00000247461 | ENST00000456180 | CANX | chr5 | 179155948 | - | KDM5B | chr1 | 202712323 | - |
| intron-intron | ENST00000512607 | ENST00000367265 | CANX | chr5 | 179155948 | - | KDM5B | chr1 | 202712323 | - |
| intron-intron | ENST00000512607 | ENST00000367264 | CANX | chr5 | 179155948 | - | KDM5B | chr1 | 202712323 | - |
| intron-intron | ENST00000512607 | ENST00000456180 | CANX | chr5 | 179155948 | - | KDM5B | chr1 | 202712323 | - |
| intron-intron | ENST00000503126 | ENST00000367265 | CANX | chr5 | 179155948 | - | KDM5B | chr1 | 202712323 | - |
| intron-intron | ENST00000503126 | ENST00000367264 | CANX | chr5 | 179155948 | - | KDM5B | chr1 | 202712323 | - |
| intron-intron | ENST00000503126 | ENST00000456180 | CANX | chr5 | 179155948 | - | KDM5B | chr1 | 202712323 | - |
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FusionProtFeatures for CANX_KDM5B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CANX | KDM5B |
| Calcium-binding protein that interacts with newlysynthesized glycoproteins in the endoplasmic reticulum. It may actin assisting protein assembly and/or in the retention within theER of unassembled protein subunits. It seems to play a major rolein the quality control apparatus of the ER by the retention ofincorrectly folded proteins. Associated with partial T-cellantigen receptor complexes that escape the ER of immaturethymocytes, it may function as a signaling complex regulatingthymocyte maturation. Additionally it may play a role in receptor-mediated endocytosis at the synapse. | Histone demethylase that demethylates 'Lys-4' of histoneH3, thereby playing a central role in histone code(PubMed:24952722, PubMed:27214403, PubMed:28262558). Does notdemethylate histone H3 'Lys-9' or H3 'Lys-27'. Demethylatestrimethylated, dimethylated and monomethylated H3 'Lys-4'. Acts asa transcriptional corepressor for FOXG1B and PAX9. Favors theproliferation of breast cancer cells by repressing tumorsuppressor genes such as BRCA1 and HOXA5 (PubMed:24952722). Incontrast, may act as a tumor suppressor for melanoma. Repressesthe CLOCK-ARNTL/BMAL1 heterodimer-mediated transcriptionalactivation of the core clock component PER2 (By similarity).{ECO:0000250|UniProtKB:Q80Y84, ECO:0000269|PubMed:12657635,ECO:0000269|PubMed:16645588, ECO:0000269|PubMed:17320161,ECO:0000269|PubMed:17363312, ECO:0000269|PubMed:24952722,ECO:0000269|PubMed:26645689, ECO:0000269|PubMed:26741168,ECO:0000269|PubMed:27214403, ECO:0000269|PubMed:28262558}. |
| 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 CANX_KDM5B |
| 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 CANX_KDM5B |
| 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 |
| - 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 CANX_KDM5B |
| 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 | CANX | P27824 | DB00031 | Tenecteplase | Calnexin | biotech | approved |
| Hgene | CANX | P27824 | DB11093 | Calcium Citrate | Calnexin | small molecule | approved |
| Hgene | CANX | P27824 | DB11348 | Calcium Phosphate | Calnexin | small molecule | approved |
| Hgene | CANX | P27824 | DB00025 | Antihemophilic factor, human recombinant | Calnexin | biotech | approved|investigational |
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RelatedDiseases for CANX_KDM5B |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CANX | C0151744 | Myocardial Ischemia | 1 | CTD_human |
| Tgene | KDM5B | C0009375 | Colonic Neoplasms | 1 | CTD_human |
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