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Fusion gene ID: 16224 |
FusionGeneSummary for HIRA_PHF19 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HIRA_PHF19 | Fusion gene ID: 16224 | Hgene | Tgene | Gene symbol | HIRA | PHF19 | Gene ID | 7290 | 26147 |
| Gene name | histone cell cycle regulator | PHD finger protein 19 | |
| Synonyms | DGCR1|TUP1|TUPLE1 | MTF2L1|PCL3|TDRD19B | |
| Cytomap | 22q11.21 | 9q33.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein HIRADiGeorge critical region gene 1HIR histone cell cycle regulation defective homolog ATUP1-like enhancer of split protein 1 | PHD finger protein 19polycomb like 3polycomb-like protein 3tudor domain containing 19B | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P54198 | Q5T6S3 | |
| Ensembl transtripts involved in fusion gene | ENST00000340170, ENST00000263208, ENST00000541063, ENST00000546308, ENST00000464189, | ENST00000373896, ENST00000419155, ENST00000487555, ENST00000312189, | |
| Fusion gene scores | * DoF score | 11 X 11 X 6=726 | 2 X 2 X 2=8 |
| # samples | 13 | 3 | |
| ** MAII score | log2(13/726*10)=-2.4814579249673 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/8*10)=1.90689059560852 | |
| Context | PubMed: HIRA [Title/Abstract] AND PHF19 [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 | HIRA | GO:0006336 | DNA replication-independent nucleosome assembly | 14718166 |
| 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 | BE930554 | HIRA | chr22 | 19431059 | - | PHF19 | chr9 | 123618857 | - | ||
| ChiTaRS3.1 | BG002842 | HIRA | chr22 | 19431059 | - | PHF19 | chr9 | 123618857 | - |
| * 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-3UTR | ENST00000340170 | ENST00000373896 | HIRA | chr22 | 19431059 | - | PHF19 | chr9 | 123618857 | - |
| intron-intron | ENST00000340170 | ENST00000419155 | HIRA | chr22 | 19431059 | - | PHF19 | chr9 | 123618857 | - |
| intron-intron | ENST00000340170 | ENST00000487555 | HIRA | chr22 | 19431059 | - | PHF19 | chr9 | 123618857 | - |
| intron-intron | ENST00000340170 | ENST00000312189 | HIRA | chr22 | 19431059 | - | PHF19 | chr9 | 123618857 | - |
| intron-3UTR | ENST00000263208 | ENST00000373896 | HIRA | chr22 | 19431059 | - | PHF19 | chr9 | 123618857 | - |
| intron-intron | ENST00000263208 | ENST00000419155 | HIRA | chr22 | 19431059 | - | PHF19 | chr9 | 123618857 | - |
| intron-intron | ENST00000263208 | ENST00000487555 | HIRA | chr22 | 19431059 | - | PHF19 | chr9 | 123618857 | - |
| intron-intron | ENST00000263208 | ENST00000312189 | HIRA | chr22 | 19431059 | - | PHF19 | chr9 | 123618857 | - |
| intron-3UTR | ENST00000541063 | ENST00000373896 | HIRA | chr22 | 19431059 | - | PHF19 | chr9 | 123618857 | - |
| intron-intron | ENST00000541063 | ENST00000419155 | HIRA | chr22 | 19431059 | - | PHF19 | chr9 | 123618857 | - |
| intron-intron | ENST00000541063 | ENST00000487555 | HIRA | chr22 | 19431059 | - | PHF19 | chr9 | 123618857 | - |
| intron-intron | ENST00000541063 | ENST00000312189 | HIRA | chr22 | 19431059 | - | PHF19 | chr9 | 123618857 | - |
| intron-3UTR | ENST00000546308 | ENST00000373896 | HIRA | chr22 | 19431059 | - | PHF19 | chr9 | 123618857 | - |
| intron-intron | ENST00000546308 | ENST00000419155 | HIRA | chr22 | 19431059 | - | PHF19 | chr9 | 123618857 | - |
| intron-intron | ENST00000546308 | ENST00000487555 | HIRA | chr22 | 19431059 | - | PHF19 | chr9 | 123618857 | - |
| intron-intron | ENST00000546308 | ENST00000312189 | HIRA | chr22 | 19431059 | - | PHF19 | chr9 | 123618857 | - |
| intron-3UTR | ENST00000464189 | ENST00000373896 | HIRA | chr22 | 19431059 | - | PHF19 | chr9 | 123618857 | - |
| intron-intron | ENST00000464189 | ENST00000419155 | HIRA | chr22 | 19431059 | - | PHF19 | chr9 | 123618857 | - |
| intron-intron | ENST00000464189 | ENST00000487555 | HIRA | chr22 | 19431059 | - | PHF19 | chr9 | 123618857 | - |
| intron-intron | ENST00000464189 | ENST00000312189 | HIRA | chr22 | 19431059 | - | PHF19 | chr9 | 123618857 | - |
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FusionProtFeatures for HIRA_PHF19 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HIRA | PHF19 |
| Cooperates with ASF1A to promote replication-independentchromatin assembly. Required for the periodic repression ofhistone gene transcription during the cell cycle. Required for theformation of senescence-associated heterochromatin foci (SAHF) andefficient senescence-associated cell cycle exit.{ECO:0000269|PubMed:12370293, ECO:0000269|PubMed:14718166,ECO:0000269|PubMed:15621527}. | Polycomb group (PcG) that specifically binds histone H3trimethylated at 'Lys-36' (H3K36me3) and recruits the PRC2complex. Probably involved in the transition from an active stateto a repressed state in embryonic stem cells: acts by binding toH3K36me3, a mark for transcriptional activation, and recruitingH3K36me3 histone demethylases RIOX1 or KDM2B, leading todemethylation of H3K36 and recruitment of the PRC2 complex thatmediates H3K27me3 methylation, followed by de novo silencing.Recruits the PRC2 complex to CpG islands and contributes toembryonic stem cell self-renewal. Also binds dimethylated at 'Lys-36' (H3K36me2). Isoform 1 and isoform 2 inhibit transcription froman HSV-tk promoter. {ECO:0000269|PubMed:15563832,ECO:0000269|PubMed:21143197, ECO:0000269|PubMed:23104054,ECO:0000269|PubMed:23160351}. |
| 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 HIRA_PHF19 |
| 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 HIRA_PHF19 |
| 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 HIRA_PHF19 |
| 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 HIRA_PHF19 |
| 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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