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Fusion gene ID: 16182 |
FusionGeneSummary for HIF3A_DNMT1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HIF3A_DNMT1 | Fusion gene ID: 16182 | Hgene | Tgene | Gene symbol | HIF3A | DNMT1 | Gene ID | 64344 | 1786 |
| Gene name | hypoxia inducible factor 3 subunit alpha | DNA methyltransferase 1 | |
| Synonyms | HIF-3A|HIF3-alpha-1|IPAS|MOP7|PASD7|bHLHe17 | ADCADN|AIM|CXXC9|DNMT|HSN1E|MCMT|m.HsaI | |
| Cytomap | 19q13.32 | 19p13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | hypoxia-inducible factor 3-alphaPAS domain-containing protein 7basic-helix-loop-helix-PAS protein MOP7class E basic helix-loop-helix protein 17hypoxia inducible factor 3 alpha subunitinhibitory PAS domain proteinmember of PAS protein 7 | DNA (cytosine-5)-methyltransferase 1CXXC-type zinc finger protein 9DNA (cytosine-5-)-methyltransferase 1DNA MTase HsaIDNA methyltransferase HsaI | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q9Y2N7 | P26358 | |
| Ensembl transtripts involved in fusion gene | ENST00000377670, ENST00000244303, ENST00000339613, ENST00000472815, ENST00000300862, ENST00000600383, ENST00000420102, ENST00000525854, | ENST00000340748, ENST00000540357, ENST00000359526, ENST00000589538, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 2 X 1 X 2=4 |
| # samples | 1 | 2 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: HIF3A [Title/Abstract] AND DNMT1 [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 | DNMT1 | GO:0010216 | maintenance of DNA methylation | 18754681|21745816 |
| 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 |
| TCGA | LD | SARC | TCGA-MJ-A68H-01A | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| * 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 |
| Frame-shit | ENST00000377670 | ENST00000340748 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| Frame-shit | ENST00000377670 | ENST00000540357 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| Frame-shit | ENST00000377670 | ENST00000359526 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| 5CDS-intron | ENST00000377670 | ENST00000589538 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| Frame-shit | ENST00000244303 | ENST00000340748 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| Frame-shit | ENST00000244303 | ENST00000540357 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| Frame-shit | ENST00000244303 | ENST00000359526 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| 5CDS-intron | ENST00000244303 | ENST00000589538 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| Frame-shit | ENST00000339613 | ENST00000340748 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| Frame-shit | ENST00000339613 | ENST00000540357 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| Frame-shit | ENST00000339613 | ENST00000359526 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| 5CDS-intron | ENST00000339613 | ENST00000589538 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| Frame-shit | ENST00000472815 | ENST00000340748 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| Frame-shit | ENST00000472815 | ENST00000540357 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| Frame-shit | ENST00000472815 | ENST00000359526 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| 5CDS-intron | ENST00000472815 | ENST00000589538 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| Frame-shit | ENST00000300862 | ENST00000340748 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| Frame-shit | ENST00000300862 | ENST00000540357 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| Frame-shit | ENST00000300862 | ENST00000359526 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| 5CDS-intron | ENST00000300862 | ENST00000589538 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| Frame-shit | ENST00000600383 | ENST00000340748 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| Frame-shit | ENST00000600383 | ENST00000540357 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| Frame-shit | ENST00000600383 | ENST00000359526 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| 5CDS-intron | ENST00000600383 | ENST00000589538 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| Frame-shit | ENST00000420102 | ENST00000340748 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| Frame-shit | ENST00000420102 | ENST00000540357 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| Frame-shit | ENST00000420102 | ENST00000359526 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| 5CDS-intron | ENST00000420102 | ENST00000589538 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| intron-3CDS | ENST00000525854 | ENST00000340748 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| intron-3CDS | ENST00000525854 | ENST00000540357 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| intron-3CDS | ENST00000525854 | ENST00000359526 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
| intron-intron | ENST00000525854 | ENST00000589538 | HIF3A | chr19 | 46838243 | + | DNMT1 | chr19 | 10277361 | - |
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FusionProtFeatures for HIF3A_DNMT1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HIF3A | DNMT1 |
| Methylates CpG residues. Preferentially methylateshemimethylated DNA. Associates with DNA replication sites in Sphase maintaining the methylation pattern in the newly synthesizedstrand, that is essential for epigenetic inheritance. Associateswith chromatin during G2 and M phases to maintain DNA methylationindependently of replication. It is responsible for maintainingmethylation patterns established in development. DNA methylationis coordinated with methylation of histones. Mediatestranscriptional repression by direct binding to HDAC2. Inassociation with DNMT3B and via the recruitment of CTCFL/BORIS,involved in activation of BAG1 gene expression by modulatingdimethylation of promoter histone H3 at H3K4 and H3K9. Probablyforms a corepressor complex required for activated KRAS-mediatedpromoter hypermethylation and transcriptional silencing of tumorsuppressor genes (TSGs) or other tumor-related genes in colorectalcancer (CRC) cells (PubMed:24623306). Also required to maintain atranscriptionally repressive state of genes in undifferentiatedembryonic stem cells (ESCs) (PubMed:24623306). Associates atpromoter regions of tumor suppressor genes (TSGs) leading to theirgene silencing (PubMed:24623306). Promotes tumor growth(PubMed:24623306). {ECO:0000269|PubMed:16357870,ECO:0000269|PubMed:18413740, ECO:0000269|PubMed:18754681,ECO:0000269|PubMed:24623306}. |
| 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 HIF3A_DNMT1 |
| 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 HIF3A_DNMT1 |
| 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 |
| HIF3A | VHL, HSP90AA1, EPAS1 | DNMT1 | RGS6, DNMT3B, CBX5, SUV39H1, CBX1, PCNA, HDAC2, DMAP1, RB1, E2F1, HDAC1, TRIM27, DNMT3A, UHRF1, MBD2, MECP2, CXXC1, USP7, SETD7, SP1, SP3, EHMT2, EZH2, EED, BAZ2A, STAT3, SMARCA5, TP53, CHEK1, HELLS, WT1, SUZ12, TCF3, HSPA4, SNRPG, HSPA5, RAD9A, AKT1, KAT5, GSK3B, CSNK2B, RPS6KA6, DAXX, GADD45A, UHRF2, TRIM28, ZFP57, SIRT1, DNMT1, RUNX1T1, RUNX1, SIRT7, SH3KBP1, KDM1A, NR2C1, NR2C2, MTA1, MTA2, CHD4, RBBP4, MBD3, POLD3, HDAC3, CBX6, RELB, KIAA0101, NRIP1, CTBP1, YWHAQ, PARP1, BRCA1, CDKL4, DNAJC2, GCN1L1, ZFR, NTRK1, HIST3H3, HIST2H2AC, B9D2, HIST1H3E, CDK2, MYH14, BRAP, MKL1, CCNB1, SNAI1, CDC14B, LASP1, FOXA1, BRD1, PRKAA2, RBBP7 |
| - 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 HIF3A_DNMT1 |
| 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 |
| Tgene | DNMT1 | P26358 | DB01035 | Procainamide | DNA (cytosine-5)-methyltransferase 1 | small molecule | approved |
| Tgene | DNMT1 | P26358 | DB00928 | Azacitidine | DNA (cytosine-5)-methyltransferase 1 | small molecule | approved|investigational |
| Tgene | DNMT1 | P26358 | DB01099 | Flucytosine | DNA (cytosine-5)-methyltransferase 1 | small molecule | approved|investigational |
| Tgene | DNMT1 | P26358 | DB01262 | Decitabine | DNA (cytosine-5)-methyltransferase 1 | small molecule | approved|investigational |
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RelatedDiseases for HIF3A_DNMT1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | DNMT1 | C0036341 | Schizophrenia | 4 | PSYGENET |
| Tgene | DNMT1 | C0005586 | Bipolar Disorder | 2 | PSYGENET |
| Tgene | DNMT1 | C0038356 | Stomach Neoplasms | 2 | CTD_human |
| Tgene | DNMT1 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Tgene | DNMT1 | C0003469 | Anxiety Disorders | 1 | CTD_human |
| Tgene | DNMT1 | C0004096 | Asthma | 1 | CTD_human |
| Tgene | DNMT1 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| Tgene | DNMT1 | C0025149 | Medulloblastoma | 1 | CTD_human |
| Tgene | DNMT1 | C0027889 | Hereditary Sensory and Autonomic Neuropathies | 1 | CTD_human |
| Tgene | DNMT1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | DNMT1 | C0282612 | Prostatic Intraepithelial Neoplasias | 1 | CTD_human |
| Tgene | DNMT1 | C0497327 | Dementia | 1 | CTD_human;HPO |
| Tgene | DNMT1 | C0525045 | Mood Disorders | 1 | PSYGENET |
| Tgene | DNMT1 | C0993582 | Arthritis, Experimental | 1 | CTD_human |
| Tgene | DNMT1 | C1384666 | hearing impairment | 1 | CTD_human |
| Tgene | DNMT1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | DNMT1 | C3279885 | Hereditary Sensory and Autonomic Neuropathy Type Ie | 1 | ORPHANET;UNIPROT |
| Tgene | DNMT1 | C3807295 | CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT | 1 | ORPHANET;UNIPROT |
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