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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: 10347

FusionGeneSummary for DNMT1_IGF2

check button Fusion gene summary
Fusion gene informationFusion gene name: DNMT1_IGF2
Fusion gene ID: 10347
HgeneTgene
Gene symbol

DNMT1

IGF2

Gene ID

1786

3481

Gene nameDNA methyltransferase 1insulin like growth factor 2
SynonymsADCADN|AIM|CXXC9|DNMT|HSN1E|MCMT|m.HsaIC11orf43|GRDF|IGF-II|PP9974
Cytomap

19p13.2

11p15.5

Type of geneprotein-codingprotein-coding
DescriptionDNA (cytosine-5)-methyltransferase 1CXXC-type zinc finger protein 9DNA (cytosine-5-)-methyltransferase 1DNA MTase HsaIDNA methyltransferase HsaIinsulin-like growth factor IIT3M-11-derived growth factorinsulin-like growth factor 2 (somatomedin A)insulin-like growth factor type 2preptin
Modification date2018052720180527
UniProtAcc

P26358

P01344

Ensembl transtripts involved in fusion geneENST00000340748, ENST00000540357, 
ENST00000359526, ENST00000589538, 
ENST00000381395, ENST00000381406, 
ENST00000416167, ENST00000300632, 
ENST00000434045, ENST00000381392, 
ENST00000381389, ENST00000418738, 
Fusion gene scores* DoF score10 X 9 X 9=81023 X 24 X 8=4416
# samples 1220
** MAII scorelog2(12/810*10)=-2.75488750216347
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(20/4416*10)=-4.46466826700344
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DNMT1 [Title/Abstract] AND IGF2 [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
HgeneDNMT1

GO:0010216

maintenance of DNA methylation

18754681|21745816

TgeneIGF2

GO:0008284

positive regulation of cell proliferation

28873464

TgeneIGF2

GO:0042104

positive regulation of activated T cell proliferation

15694994

TgeneIGF2

GO:0043410

positive regulation of MAPK cascade

11500939

TgeneIGF2

GO:0045840

positive regulation of mitotic nuclear division

11500939

TgeneIGF2

GO:0046628

positive regulation of insulin receptor signaling pathway

11500939

TgeneIGF2

GO:0051897

positive regulation of protein kinase B signaling

11500939


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-DX-A23R-01ADNMT1chr19

10262085

-IGF2chr11

2151894

-
* 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
intron-3UTRENST00000340748ENST00000381395DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-3UTRENST00000340748ENST00000381406DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-3UTRENST00000340748ENST00000416167DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-3UTRENST00000340748ENST00000300632DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-intronENST00000340748ENST00000434045DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-intronENST00000340748ENST00000381392DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-intronENST00000340748ENST00000381389DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-intronENST00000340748ENST00000418738DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-3UTRENST00000540357ENST00000381395DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-3UTRENST00000540357ENST00000381406DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-3UTRENST00000540357ENST00000416167DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-3UTRENST00000540357ENST00000300632DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-intronENST00000540357ENST00000434045DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-intronENST00000540357ENST00000381392DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-intronENST00000540357ENST00000381389DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-intronENST00000540357ENST00000418738DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-3UTRENST00000359526ENST00000381395DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-3UTRENST00000359526ENST00000381406DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-3UTRENST00000359526ENST00000416167DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-3UTRENST00000359526ENST00000300632DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-intronENST00000359526ENST00000434045DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-intronENST00000359526ENST00000381392DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-intronENST00000359526ENST00000381389DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-intronENST00000359526ENST00000418738DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-3UTRENST00000589538ENST00000381395DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-3UTRENST00000589538ENST00000381406DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-3UTRENST00000589538ENST00000416167DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-3UTRENST00000589538ENST00000300632DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-intronENST00000589538ENST00000434045DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-intronENST00000589538ENST00000381392DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-intronENST00000589538ENST00000381389DNMT1chr19

10262085

-IGF2chr11

2151894

-
intron-intronENST00000589538ENST00000418738DNMT1chr19

10262085

-IGF2chr11

2151894

-

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FusionProtFeatures for DNMT1_IGF2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DNMT1

P26358

IGF2

P01344

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 DNMT1_IGF2


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 DNMT1_IGF2


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
DNMT1RGS6, 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, RBBP7IGF2NOV, IGFBP7, IGFBP1, TF, IGFBP3, VTN, IDE, IGFBP6, IGFBP4, IGFBP5, BAG6, NMRK2, FAF1, PCSK4, RBPMS


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 DNMT1_IGF2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneDNMT1P26358DB01035ProcainamideDNA (cytosine-5)-methyltransferase 1small moleculeapproved
HgeneDNMT1P26358DB00928AzacitidineDNA (cytosine-5)-methyltransferase 1small moleculeapproved|investigational
HgeneDNMT1P26358DB01099FlucytosineDNA (cytosine-5)-methyltransferase 1small moleculeapproved|investigational
HgeneDNMT1P26358DB01262DecitabineDNA (cytosine-5)-methyltransferase 1small moleculeapproved|investigational

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RelatedDiseases for DNMT1_IGF2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDNMT1C0036341Schizophrenia4PSYGENET
HgeneDNMT1C0005586Bipolar Disorder2PSYGENET
HgeneDNMT1C0038356Stomach Neoplasms2CTD_human
HgeneDNMT1C0001418Adenocarcinoma1CTD_human
HgeneDNMT1C0003469Anxiety Disorders1CTD_human
HgeneDNMT1C0004096Asthma1CTD_human
HgeneDNMT1C0009375Colonic Neoplasms1CTD_human
HgeneDNMT1C0025149Medulloblastoma1CTD_human
HgeneDNMT1C0027889Hereditary Sensory and Autonomic Neuropathies1CTD_human
HgeneDNMT1C0033578Prostatic Neoplasms1CTD_human
HgeneDNMT1C0282612Prostatic Intraepithelial Neoplasias1CTD_human
HgeneDNMT1C0497327Dementia1CTD_human;HPO
HgeneDNMT1C0525045Mood Disorders1PSYGENET
HgeneDNMT1C0993582Arthritis, Experimental1CTD_human
HgeneDNMT1C1384666hearing impairment1CTD_human
HgeneDNMT1C1458155Mammary Neoplasms1CTD_human
HgeneDNMT1C3279885Hereditary Sensory and Autonomic Neuropathy Type Ie1ORPHANET;UNIPROT
HgeneDNMT1C3807295CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT1ORPHANET;UNIPROT
TgeneIGF2C0004903Beckwith-Wiedemann Syndrome2CTD_human
TgeneIGF2C0015934Fetal Growth Retardation2CTD_human;HPO
TgeneIGF2C0036341Schizophrenia2PSYGENET
TgeneIGF2C0206686Adrenocortical carcinoma2CTD_human;HPO
TgeneIGF2C2239176Liver carcinoma2CTD_human;HPO
TgeneIGF2C0000786Spontaneous abortion1CTD_human
TgeneIGF2C0002395Alzheimer's Disease1CTD_human
TgeneIGF2C0002871Anemia1CTD_human
TgeneIGF2C0004153Atherosclerosis1CTD_human
TgeneIGF2C0004352Autistic Disorder1CTD_human
TgeneIGF2C0005941Bone Diseases, Developmental1CTD_human
TgeneIGF2C0009241Cognition Disorders1CTD_human
TgeneIGF2C0009375Colonic Neoplasms1CTD_human
TgeneIGF2C0009404Colorectal Neoplasms1CTD_human
TgeneIGF2C0018273Growth Disorders1CTD_human
TgeneIGF2C0019284Diaphragmatic Hernia1CTD_human
TgeneIGF2C0020224Polyhydramnios1CTD_human
TgeneIGF2C0020615Hypoglycemia1CTD_human
TgeneIGF2C0023903Liver neoplasms1CTD_human
TgeneIGF2C0025261Memory Disorders1CTD_human
TgeneIGF2C0027708Nephroblastoma1CTD_human;HPO
TgeneIGF2C0027746Nerve Degeneration1CTD_human
TgeneIGF2C0028754Obesity1CTD_human
TgeneIGF2C0030567Parkinson Disease1CTD_human
TgeneIGF2C0032045Placenta Disorders1CTD_human
TgeneIGF2C0032927Precancerous Conditions1CTD_human
TgeneIGF2C0035412Rhabdomyosarcoma1CTD_human
TgeneIGF2C0175693Russell-Silver syndrome1CTD_human
TgeneIGF2C0206624Hepatoblastoma1CTD_human;HPO
TgeneIGF2C0678807prenatal alcohol exposure1PSYGENET
TgeneIGF2C0752347Lewy Body Disease1CTD_human