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Fusion gene ID: 26950 |
FusionGeneSummary for PHF2_BPTF |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PHF2_BPTF | Fusion gene ID: 26950 | Hgene | Tgene | Gene symbol | PHF2 | BPTF | Gene ID | 5253 | 2186 |
| Gene name | PHD finger protein 2 | bromodomain PHD finger transcription factor | |
| Synonyms | CENP-35|GRC5|JHDM1E|KDM7C | FAC1|FALZ|NEDDFL|NURF301 | |
| Cytomap | 9q22.31 | 17q24.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | lysine-specific demethylase PHF2centromere protein 35jumonji C domain-containing histone demethylase 1E | nucleosome-remodeling factor subunit BPTFbromodomain and PHD domain transcription factorbromodomain and PHD finger-containing transcription factorfetal Alz-50 clone 1 proteinfetal Alz-50 reactive clone 1fetal Alzheimer antigennucleosome remodeling f | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | O75151 | Q12830 | |
| Ensembl transtripts involved in fusion gene | ENST00000359246, ENST00000375376, | ENST00000335221, ENST00000321892, ENST00000306378, ENST00000424123, ENST00000577770, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 12 X 12 X 4=576 |
| # samples | 2 | 12 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(12/576*10)=-2.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PHF2 [Title/Abstract] AND BPTF [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 | PHF2 | GO:0006482 | protein demethylation | 21532585 |
| Tgene | BPTF | GO:0000122 | negative regulation of transcription by RNA polymerase II | 10727212 |
| Tgene | BPTF | GO:0006338 | chromatin remodeling | 14609955 |
| 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 | BF090778 | PHF2 | chr9 | 96441454 | - | BPTF | chr17 | 65908075 | + |
| * 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 |
| 3UTR-3CDS | ENST00000359246 | ENST00000335221 | PHF2 | chr9 | 96441454 | - | BPTF | chr17 | 65908075 | + |
| 3UTR-3CDS | ENST00000359246 | ENST00000321892 | PHF2 | chr9 | 96441454 | - | BPTF | chr17 | 65908075 | + |
| 3UTR-3CDS | ENST00000359246 | ENST00000306378 | PHF2 | chr9 | 96441454 | - | BPTF | chr17 | 65908075 | + |
| 3UTR-3CDS | ENST00000359246 | ENST00000424123 | PHF2 | chr9 | 96441454 | - | BPTF | chr17 | 65908075 | + |
| 3UTR-intron | ENST00000359246 | ENST00000577770 | PHF2 | chr9 | 96441454 | - | BPTF | chr17 | 65908075 | + |
| 3UTR-3CDS | ENST00000375376 | ENST00000335221 | PHF2 | chr9 | 96441454 | - | BPTF | chr17 | 65908075 | + |
| 3UTR-3CDS | ENST00000375376 | ENST00000321892 | PHF2 | chr9 | 96441454 | - | BPTF | chr17 | 65908075 | + |
| 3UTR-3CDS | ENST00000375376 | ENST00000306378 | PHF2 | chr9 | 96441454 | - | BPTF | chr17 | 65908075 | + |
| 3UTR-3CDS | ENST00000375376 | ENST00000424123 | PHF2 | chr9 | 96441454 | - | BPTF | chr17 | 65908075 | + |
| 3UTR-intron | ENST00000375376 | ENST00000577770 | PHF2 | chr9 | 96441454 | - | BPTF | chr17 | 65908075 | + |
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FusionProtFeatures for PHF2_BPTF |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PHF2 | BPTF |
| Lysine demethylase that demethylates both histones andnon-histone proteins. Enzymatically inactive by itself, andbecomes active following phosphorylation by PKA: forms a complexwith ARID5B and mediates demethylation of methylated ARID5B.Demethylation of ARID5B leads to target the PHF2-ARID5B complex totarget promoters, where PHF2 mediates demethylation ofdimethylated 'Lys-9' of histone H3 (H3K9me2), followed bytranscription activation of target genes. The PHF2-ARID5B complexacts as a coactivator of HNF4A in liver. PHF2 is recruited totrimethylated 'Lys-4' of histone H3 (H3K4me3) at rDNA promotersand promotes expression of rDNA. {ECO:0000269|PubMed:20129925,ECO:0000269|PubMed:21167174, ECO:0000269|PubMed:21532585}. | Histone-binding component of NURF (nucleosome-remodelingfactor), a complex which catalyzes ATP-dependent nucleosomesliding and facilitates transcription of chromatin. Specificallyrecognizes H3 tails trimethylated on 'Lys-4' (H3K4me3), which marktranscription start sites of virtually all active genes. May alsoregulate transcription through direct binding to DNA ortranscription factors. |
| 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 PHF2_BPTF |
| 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 PHF2_BPTF |
| 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 PHF2_BPTF |
| 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 PHF2_BPTF |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | BPTF | C0005695 | Bladder Neoplasm | 1 | CTD_human |
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