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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 37765

FusionGeneSummary for TET1_HFM1

check button Fusion gene summary
Fusion gene informationFusion gene name: TET1_HFM1
Fusion gene ID: 37765
HgeneTgene
Gene symbol

TET1

HFM1

Gene ID

80312

164045

Gene nametet methylcytosine dioxygenase 1HFM1, ATP dependent DNA helicase homolog
SynonymsCXXC6|LCX|bA119F7.1MER3|POF9|SEC63D1|Si-11|Si-11-6|helicase
Cytomap

10q21.3

1p22.2

Type of geneprotein-codingprotein-coding
Descriptionmethylcytosine 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 tranprobable ATP-dependent DNA helicase HFM1SEC63 domain-containing protein 1helicase-like protein HFM1
Modification date2018052320180519
UniProtAcc

Q8NFU7

A2PYH4

Ensembl transtripts involved in fusion geneENST00000373644, ENST00000462405, 
ENST00000370425, ENST00000294696, 
ENST00000370424, 
Fusion gene scores* DoF score6 X 9 X 5=2703 X 3 X 3=27
# samples 93
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1AL713658TET1chr10

70451381

+HFM1chr1

91845786

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-intronENST00000373644ENST00000462405TET1chr10

70451381

+HFM1chr1

91845786

+
5CDS-intronENST00000373644ENST00000370425TET1chr10

70451381

+HFM1chr1

91845786

+
5CDS-5UTRENST00000373644ENST00000294696TET1chr10

70451381

+HFM1chr1

91845786

+
5CDS-5UTRENST00000373644ENST00000370424TET1chr10

70451381

+HFM1chr1

91845786

+

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FusionProtFeatures for TET1_HFM1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TET1

Q8NFU7

HFM1

A2PYH4

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for TET1_HFM1


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for TET1_HFM1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for TET1_HFM1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTET1C0033975Psychotic Disorders1PSYGENET
HgeneTET1C0036341Schizophrenia1PSYGENET
HgeneTET1C0349204Nonorganic psychosis1PSYGENET
HgeneTET1C1510586Autism Spectrum Disorders1CTD_human
TgeneHFM1C3810376PREMATURE OVARIAN FAILURE 91UNIPROT