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Fusion gene ID: 37765 |
FusionGeneSummary for TET1_HFM1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: TET1_HFM1 | Fusion gene ID: 37765 | Hgene | Tgene | Gene symbol | TET1 | HFM1 | Gene ID | 80312 | 164045 |
Gene name | tet methylcytosine dioxygenase 1 | HFM1, ATP dependent DNA helicase homolog | |
Synonyms | CXXC6|LCX|bA119F7.1 | MER3|POF9|SEC63D1|Si-11|Si-11-6|helicase | |
Cytomap | 10q21.3 | 1p22.2 | |
Type of gene | protein-coding | protein-coding | |
Description | methylcytosine dioxygenase TET1CXXC finger 6CXXC zinc finger 6CXXC-type zinc finger protein 6TET1 splice variant VP_DE4TET1 splice variant VP_DE456leukemia-associated protein with a CXXC domainten-eleven translocation 1 gene proteinten-eleven tran | probable ATP-dependent DNA helicase HFM1SEC63 domain-containing protein 1helicase-like protein HFM1 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q8NFU7 | A2PYH4 | |
Ensembl transtripts involved in fusion gene | ENST00000373644, | ENST00000462405, ENST00000370425, ENST00000294696, ENST00000370424, | |
Fusion gene scores | * DoF score | 6 X 9 X 5=270 | 3 X 3 X 3=27 |
# samples | 9 | 3 | |
** MAII score | log2(9/270*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: TET1 [Title/Abstract] AND HFM1 [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 |
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 | AL713658 | TET1 | chr10 | 70451381 | + | HFM1 | chr1 | 91845786 | + |
* 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 |
5CDS-intron | ENST00000373644 | ENST00000462405 | TET1 | chr10 | 70451381 | + | HFM1 | chr1 | 91845786 | + |
5CDS-intron | ENST00000373644 | ENST00000370425 | TET1 | chr10 | 70451381 | + | HFM1 | chr1 | 91845786 | + |
5CDS-5UTR | ENST00000373644 | ENST00000294696 | TET1 | chr10 | 70451381 | + | HFM1 | chr1 | 91845786 | + |
5CDS-5UTR | ENST00000373644 | ENST00000370424 | TET1 | chr10 | 70451381 | + | HFM1 | chr1 | 91845786 | + |
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FusionProtFeatures for TET1_HFM1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
TET1 | HFM1 |
Dioxygenase that catalyzes the conversion of themodified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC) and plays a key role in active DNAdemethylation. Also mediates subsequent conversion of 5hmC into 5-formylcytosine (5fC), and conversion of 5fC to 5-carboxylcytosine(5caC). Conversion of 5mC into 5hmC, 5fC and 5caC probablyconstitutes the first step in cytosine demethylation. Methylationat the C5 position of cytosine bases is an epigenetic modificationof the mammalian genome which plays an important role intranscriptional regulation. In addition to its role in DNAdemethylation, plays a more general role in chromatin regulation.Preferentially binds to CpG-rich sequences at promoters of bothtranscriptionally active and Polycomb-repressed genes. Involved inthe recruitment of the O-GlcNAc transferase OGT to CpG-richtranscription start sites of active genes, thereby promotinghistone H2B GlcNAcylation by OGT. Also involved in transcriptionrepression of a subset of genes through recruitment oftranscriptional repressors to promoters. Involved in the balancebetween pluripotency and lineage commitment of cells it plays arole in embryonic stem cells maintenance and inner cell mass cellspecification. Plays an important role in the tumorigenicity ofglioblastoma cells. TET1-mediated production of 5hmC acts as arecruitment signal for the CHTOP-methylosome complex to selectivesites on the chromosome, where it methylates H4R3 and activatesthe transcription of genes involved in glioblastomagenesis(PubMed:25284789). {ECO:0000269|PubMed:12124344,ECO:0000269|PubMed:19372391, ECO:0000269|PubMed:19372393,ECO:0000269|PubMed:21496894, ECO:0000269|PubMed:21778364,ECO:0000269|PubMed:25284789}. | Required for crossover formation and complete synapsisof homologous chromosomes during meiosis.{ECO:0000250|UniProtKB:D3Z4R1}. |
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 TET1_HFM1 |
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 TET1_HFM1 |
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 TET1_HFM1 |
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 TET1_HFM1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | TET1 | C0033975 | Psychotic Disorders | 1 | PSYGENET |
Hgene | TET1 | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | TET1 | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
Hgene | TET1 | C1510586 | Autism Spectrum Disorders | 1 | CTD_human |
Tgene | HFM1 | C3810376 | PREMATURE OVARIAN FAILURE 9 | 1 | UNIPROT |