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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: 16182

FusionGeneSummary for HIF3A_DNMT1

check button Fusion gene summary
Fusion gene informationFusion gene name: HIF3A_DNMT1
Fusion gene ID: 16182
HgeneTgene
Gene symbol

HIF3A

DNMT1

Gene ID

64344

1786

Gene namehypoxia inducible factor 3 subunit alphaDNA methyltransferase 1
SynonymsHIF-3A|HIF3-alpha-1|IPAS|MOP7|PASD7|bHLHe17ADCADN|AIM|CXXC9|DNMT|HSN1E|MCMT|m.HsaI
Cytomap

19q13.32

19p13.2

Type of geneprotein-codingprotein-coding
Descriptionhypoxia-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 7DNA (cytosine-5)-methyltransferase 1CXXC-type zinc finger protein 9DNA (cytosine-5-)-methyltransferase 1DNA MTase HsaIDNA methyltransferase HsaI
Modification date2018052320180527
UniProtAcc

Q9Y2N7

P26358

Ensembl transtripts involved in fusion geneENST00000377670, ENST00000244303, 
ENST00000339613, ENST00000472815, 
ENST00000300862, ENST00000600383, 
ENST00000420102, ENST00000525854, 
ENST00000340748, ENST00000540357, 
ENST00000359526, ENST00000589538, 
Fusion gene scores* DoF score1 X 1 X 1=12 X 1 X 2=4
# samples 12
** MAII scorelog2(1/1*10)=3.32192809488736log2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneDNMT1

GO:0010216

maintenance of DNA methylation

18754681|21745816


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
TCGALDSARCTCGA-MJ-A68H-01AHIF3Achr19

46838243

+DNMT1chr19

10277361

-
* 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
Frame-shiftENST00000377670ENST00000340748HIF3Achr19

46838243

+DNMT1chr19

10277361

-
Frame-shiftENST00000377670ENST00000540357HIF3Achr19

46838243

+DNMT1chr19

10277361

-
Frame-shiftENST00000377670ENST00000359526HIF3Achr19

46838243

+DNMT1chr19

10277361

-
5CDS-intronENST00000377670ENST00000589538HIF3Achr19

46838243

+DNMT1chr19

10277361

-
Frame-shiftENST00000244303ENST00000340748HIF3Achr19

46838243

+DNMT1chr19

10277361

-
Frame-shiftENST00000244303ENST00000540357HIF3Achr19

46838243

+DNMT1chr19

10277361

-
Frame-shiftENST00000244303ENST00000359526HIF3Achr19

46838243

+DNMT1chr19

10277361

-
5CDS-intronENST00000244303ENST00000589538HIF3Achr19

46838243

+DNMT1chr19

10277361

-
Frame-shiftENST00000339613ENST00000340748HIF3Achr19

46838243

+DNMT1chr19

10277361

-
Frame-shiftENST00000339613ENST00000540357HIF3Achr19

46838243

+DNMT1chr19

10277361

-
Frame-shiftENST00000339613ENST00000359526HIF3Achr19

46838243

+DNMT1chr19

10277361

-
5CDS-intronENST00000339613ENST00000589538HIF3Achr19

46838243

+DNMT1chr19

10277361

-
Frame-shiftENST00000472815ENST00000340748HIF3Achr19

46838243

+DNMT1chr19

10277361

-
Frame-shiftENST00000472815ENST00000540357HIF3Achr19

46838243

+DNMT1chr19

10277361

-
Frame-shiftENST00000472815ENST00000359526HIF3Achr19

46838243

+DNMT1chr19

10277361

-
5CDS-intronENST00000472815ENST00000589538HIF3Achr19

46838243

+DNMT1chr19

10277361

-
Frame-shiftENST00000300862ENST00000340748HIF3Achr19

46838243

+DNMT1chr19

10277361

-
Frame-shiftENST00000300862ENST00000540357HIF3Achr19

46838243

+DNMT1chr19

10277361

-
Frame-shiftENST00000300862ENST00000359526HIF3Achr19

46838243

+DNMT1chr19

10277361

-
5CDS-intronENST00000300862ENST00000589538HIF3Achr19

46838243

+DNMT1chr19

10277361

-
Frame-shiftENST00000600383ENST00000340748HIF3Achr19

46838243

+DNMT1chr19

10277361

-
Frame-shiftENST00000600383ENST00000540357HIF3Achr19

46838243

+DNMT1chr19

10277361

-
Frame-shiftENST00000600383ENST00000359526HIF3Achr19

46838243

+DNMT1chr19

10277361

-
5CDS-intronENST00000600383ENST00000589538HIF3Achr19

46838243

+DNMT1chr19

10277361

-
Frame-shiftENST00000420102ENST00000340748HIF3Achr19

46838243

+DNMT1chr19

10277361

-
Frame-shiftENST00000420102ENST00000540357HIF3Achr19

46838243

+DNMT1chr19

10277361

-
Frame-shiftENST00000420102ENST00000359526HIF3Achr19

46838243

+DNMT1chr19

10277361

-
5CDS-intronENST00000420102ENST00000589538HIF3Achr19

46838243

+DNMT1chr19

10277361

-
intron-3CDSENST00000525854ENST00000340748HIF3Achr19

46838243

+DNMT1chr19

10277361

-
intron-3CDSENST00000525854ENST00000540357HIF3Achr19

46838243

+DNMT1chr19

10277361

-
intron-3CDSENST00000525854ENST00000359526HIF3Achr19

46838243

+DNMT1chr19

10277361

-
intron-intronENST00000525854ENST00000589538HIF3Achr19

46838243

+DNMT1chr19

10277361

-

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FusionProtFeatures for HIF3A_DNMT1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HIF3A

Q9Y2N7

DNMT1

P26358

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}.

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 HIF3A_DNMT1


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 HIF3A_DNMT1


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
HIF3AVHL, HSP90AA1, EPAS1DNMT1RGS6, 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


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 HIF3A_DNMT1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneDNMT1P26358DB01035ProcainamideDNA (cytosine-5)-methyltransferase 1small moleculeapproved
TgeneDNMT1P26358DB00928AzacitidineDNA (cytosine-5)-methyltransferase 1small moleculeapproved|investigational
TgeneDNMT1P26358DB01099FlucytosineDNA (cytosine-5)-methyltransferase 1small moleculeapproved|investigational
TgeneDNMT1P26358DB01262DecitabineDNA (cytosine-5)-methyltransferase 1small moleculeapproved|investigational

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RelatedDiseases for HIF3A_DNMT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneDNMT1C0036341Schizophrenia4PSYGENET
TgeneDNMT1C0005586Bipolar Disorder2PSYGENET
TgeneDNMT1C0038356Stomach Neoplasms2CTD_human
TgeneDNMT1C0001418Adenocarcinoma1CTD_human
TgeneDNMT1C0003469Anxiety Disorders1CTD_human
TgeneDNMT1C0004096Asthma1CTD_human
TgeneDNMT1C0009375Colonic Neoplasms1CTD_human
TgeneDNMT1C0025149Medulloblastoma1CTD_human
TgeneDNMT1C0027889Hereditary Sensory and Autonomic Neuropathies1CTD_human
TgeneDNMT1C0033578Prostatic Neoplasms1CTD_human
TgeneDNMT1C0282612Prostatic Intraepithelial Neoplasias1CTD_human
TgeneDNMT1C0497327Dementia1CTD_human;HPO
TgeneDNMT1C0525045Mood Disorders1PSYGENET
TgeneDNMT1C0993582Arthritis, Experimental1CTD_human
TgeneDNMT1C1384666hearing impairment1CTD_human
TgeneDNMT1C1458155Mammary Neoplasms1CTD_human
TgeneDNMT1C3279885Hereditary Sensory and Autonomic Neuropathy Type Ie1ORPHANET;UNIPROT
TgeneDNMT1C3807295CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT1ORPHANET;UNIPROT