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Fusion gene ID: 4111 |
FusionGeneSummary for BDP1_KDM5A |
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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) |
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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 |
![]() (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 |
![]() * 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 |
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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}. |
![]() * 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 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for BDP1_KDM5A |
![]() (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 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | KDM5A | C3714756 | Intellectual Disability | 1 | CTD_human |