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Fusion gene ID: 4111 |
FusionGeneSummary for BDP1_KDM5A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BDP1_KDM5A | Fusion gene ID: 4111 | Hgene | Tgene | Gene symbol | BDP1 | KDM5A | Gene ID | 55814 | 5927 |
| Gene name | B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB | lysine demethylase 5A | |
| Synonyms | HSA238520|TAF3B1|TFC5|TFIIIB''|TFIIIB150|TFIIIB90|TFNR | RBBP-2|RBBP2|RBP2 | |
| Cytomap | 5q13.2 | 12p13.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcription factor TFIIIB component B'' homologRNA polymerase III transcription initiation factor B''TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1transcription factor IIIB 150transcription factor-like nuclear | lysine-specific demethylase 5AJumonji, AT rich interactive domain 1A (RBP2-like)histone demethylase JARID1Ajumonji/ARID domain-containing protein 1Alysine (K)-specific demethylase 5Aretinoblastoma binding protein 2 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | A6H8Y1 | P29375 | |
| Ensembl transtripts involved in fusion gene | ENST00000358731, ENST00000380675, | ENST00000399788, ENST00000540838, ENST00000382815, | |
| Fusion gene scores | * DoF score | 4 X 5 X 3=60 | 5 X 5 X 2=50 |
| # samples | 6 | 6 | |
| ** MAII score | log2(6/60*10)=0 | log2(6/50*10)=0.263034405833794 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: BDP1 [Title/Abstract] AND KDM5A [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 | KDM5A | GO:0033169 | histone H3-K9 demethylation | 18270511 |
| Tgene | KDM5A | GO:0034720 | histone H3-K4 demethylation | 18270511 |
| Tgene | KDM5A | GO:0045893 | positive regulation of transcription, DNA-templated | 11358960 |
| 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 | CB119529 | BDP1 | chr5 | 70811993 | + | KDM5A | chr12 | 402303 | - | ||
| ChiTaRS3.1 | CB119428 | BDP1 | chr5 | 70811993 | + | KDM5A | chr12 | 402303 | - |
| * 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 |
| In-frame | ENST00000358731 | ENST00000399788 | BDP1 | chr5 | 70811993 | + | KDM5A | chr12 | 402303 | - |
| 5CDS-intron | ENST00000358731 | ENST00000540838 | BDP1 | chr5 | 70811993 | + | KDM5A | chr12 | 402303 | - |
| 5CDS-intron | ENST00000358731 | ENST00000382815 | BDP1 | chr5 | 70811993 | + | KDM5A | chr12 | 402303 | - |
| 5UTR-3CDS | ENST00000380675 | ENST00000399788 | BDP1 | chr5 | 70811993 | + | KDM5A | chr12 | 402303 | - |
| 5UTR-intron | ENST00000380675 | ENST00000540838 | BDP1 | chr5 | 70811993 | + | KDM5A | chr12 | 402303 | - |
| 5UTR-intron | ENST00000380675 | ENST00000382815 | BDP1 | chr5 | 70811993 | + | KDM5A | chr12 | 402303 | - |
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FusionProtFeatures for BDP1_KDM5A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BDP1 | KDM5A |
| Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code.Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36',H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated anddimethylated but not monomethylated H3 'Lys-4'. Regulates specificgene transcription through DNA-binding on 5'-CCGCCC-3' motif(PubMed:18270511). May stimulate transcription mediated by nuclearreceptors. Involved in transcriptional regulation of Hox proteinsduring cell differentiation (PubMed:19430464). May participate intranscriptional repression of cytokines such as CXCL12. Plays arole in the regulation of the circadian rhythm and in maintainingthe normal periodicity of the circadian clock. In a histonedemethylase-independent manner, acts as a coactivator of theCLOCK-ARNTL/BMAL1-mediated transcriptional activation of PER1/2and other clock-controlled genes and increases histone acetylationat PER1/2 promoters by inhibiting the activity of HDAC1 (Bysimilarity). Seems to act as a transcriptional corepressor forsome genes such as MT1F and to favor the proliferation of cancercells (PubMed:27427228). {ECO:0000250|UniProtKB:Q3UXZ9,ECO:0000269|PubMed:11358960, ECO:0000269|PubMed:15949438,ECO:0000269|PubMed:17320160, ECO:0000269|PubMed:17320161,ECO:0000269|PubMed:17320163, ECO:0000269|PubMed:18270511,ECO:0000269|PubMed:19430464, ECO:0000269|PubMed:27427228}. |
| 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 BDP1_KDM5A |
| 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. |
| >In-frame_BDP1_ENST00000358731_chr5_70811993_+_KDM5A_ENST00000399788_chr12_402303_-_0aa >In-frame_BDP1_ENST00000358731_chr5_70811993_+_KDM5A_ENST00000399788_chr12_402303_-_0aa |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_BDP1_ENST00000358731_chr5_70811993_+_KDM5A_ENST00000399788_chr12_402303_-_0nt >In-frame_BDP1_ENST00000358731_chr5_70811993_+_KDM5A_ENST00000399788_chr12_402303_-_0nt |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_BDP1_ENST00000358731_chr5_70811993_+_KDM5A_ENST00000399788_chr12_402303_-_0nt >In-frame_BDP1_ENST00000358731_chr5_70811993_+_KDM5A_ENST00000399788_chr12_402303_-_0nt |
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FusionGenePPI for BDP1_KDM5A |
| 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 BDP1_KDM5A |
| 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 BDP1_KDM5A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | KDM5A | C3714756 | Intellectual Disability | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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