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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:DNMT1-B2M (FusionGDB2 ID:HG1786TG567)

Fusion Gene Summary for DNMT1-B2M

check button Fusion gene summary
Fusion gene informationFusion gene name: DNMT1-B2M
Fusion gene ID: hg1786tg567
HgeneTgene
Gene symbol

DNMT1

B2M

Gene ID

1786

567

Gene nameDNA methyltransferase 1beta-2-microglobulin
SynonymsADCADN|AIM|CXXC9|DNMT|HSN1E|MCMT|m.HsaIIMD43
Cytomap('DNMT1')('B2M')

19p13.2

15q21.1

Type of geneprotein-codingprotein-coding
DescriptionDNA (cytosine-5)-methyltransferase 1CXXC-type zinc finger protein 9DNA (cytosine-5-)-methyltransferase 1DNA MTase HsaIDNA methyltransferase HsaIbeta-2-microglobulinbeta chain of MHC class I moleculesbeta-2-microglobin
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000340748, ENST00000359526, 
ENST00000540357, ENST00000589538, 
Fusion gene scores* DoF score14 X 12 X 11=184864 X 31 X 17=33728
# samples 1771
** MAII scorelog2(17/1848*10)=-3.44235810527836
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(71/33728*10)=-5.56998393724517
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DNMT1 [Title/Abstract] AND B2M [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDNMT1(10341880)-B2M(45007621), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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

TgeneB2M

GO:0002726

positive regulation of T cell cytokine production

24643698

TgeneB2M

GO:0007611

learning or memory

26147761

TgeneB2M

GO:0050680

negative regulation of epithelial cell proliferation

28213472

TgeneB2M

GO:0050768

negative regulation of neurogenesis

26147761

TgeneB2M

GO:0090647

modulation of age-related behavioral decline

26147761

TgeneB2M

GO:1900121

negative regulation of receptor binding

9465039

TgeneB2M

GO:1990000

amyloid fibril formation

28468825

TgeneB2M

GO:2000774

positive regulation of cellular senescence

28213472

TgeneB2M

GO:2000978

negative regulation of forebrain neuron differentiation

26147761



check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-CD-5813-01ADNMT1chr19

10341880

-B2Mchr15

45007621

+


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Fusion Gene ORF analysis for DNMT1-B2M

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-3CDSENST00000340748ENST00000544417DNMT1chr19

10341880

-B2Mchr15

45007621

+
intron-3CDSENST00000340748ENST00000558401DNMT1chr19

10341880

-B2Mchr15

45007621

+
intron-3CDSENST00000340748ENST00000559916DNMT1chr19

10341880

-B2Mchr15

45007621

+
intron-3CDSENST00000359526ENST00000544417DNMT1chr19

10341880

-B2Mchr15

45007621

+
intron-3CDSENST00000359526ENST00000558401DNMT1chr19

10341880

-B2Mchr15

45007621

+
intron-3CDSENST00000359526ENST00000559916DNMT1chr19

10341880

-B2Mchr15

45007621

+
intron-3CDSENST00000540357ENST00000544417DNMT1chr19

10341880

-B2Mchr15

45007621

+
intron-3CDSENST00000540357ENST00000558401DNMT1chr19

10341880

-B2Mchr15

45007621

+
intron-3CDSENST00000540357ENST00000559916DNMT1chr19

10341880

-B2Mchr15

45007621

+
intron-3CDSENST00000589538ENST00000544417DNMT1chr19

10341880

-B2Mchr15

45007621

+
intron-3CDSENST00000589538ENST00000558401DNMT1chr19

10341880

-B2Mchr15

45007621

+
intron-3CDSENST00000589538ENST00000559916DNMT1chr19

10341880

-B2Mchr15

45007621

+
intron-intronENST00000340748ENST00000559220DNMT1chr19

10341880

-B2Mchr15

45007621

+
intron-intronENST00000359526ENST00000559220DNMT1chr19

10341880

-B2Mchr15

45007621

+
intron-intronENST00000540357ENST00000559220DNMT1chr19

10341880

-B2Mchr15

45007621

+
intron-intronENST00000589538ENST00000559220DNMT1chr19

10341880

-B2Mchr15

45007621

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for DNMT1-B2M


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for DNMT1-B2M


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:10341880/:45007621)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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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Fusion Gene Sequence for DNMT1-B2M


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for DNMT1-B2M


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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Related Drugs for DNMT1-B2M


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for DNMT1-B2M


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDNMT1C3807295CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT11CLINGEN;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneDNMT1C3279885Hereditary Sensory and Autonomic Neuropathy Type Ie5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneDNMT1C0036341Schizophrenia4PSYGENET
HgeneDNMT1C0005586Bipolar Disorder2PSYGENET
HgeneDNMT1C0006142Malignant neoplasm of breast2CTD_human
HgeneDNMT1C0024623Malignant neoplasm of stomach2CTD_human
HgeneDNMT1C0038356Stomach Neoplasms2CTD_human
HgeneDNMT1C0678222Breast Carcinoma2CTD_human
HgeneDNMT1C1257931Mammary Neoplasms, Human2CTD_human
HgeneDNMT1C1384666hearing impairment2CTD_human;GENOMICS_ENGLAND
HgeneDNMT1C1458155Mammary Neoplasms2CTD_human
HgeneDNMT1C1708349Hereditary Diffuse Gastric Cancer2CTD_human
HgeneDNMT1C4704874Mammary Carcinoma, Human2CTD_human
HgeneDNMT1C0001418Adenocarcinoma1CTD_human
HgeneDNMT1C0003469Anxiety Disorders1CTD_human
HgeneDNMT1C0003865Arthritis, Adjuvant-Induced1CTD_human
HgeneDNMT1C0004096Asthma1CTD_human
HgeneDNMT1C0007097Carcinoma1CTD_human
HgeneDNMT1C0007102Malignant tumor of colon1CTD_human
HgeneDNMT1C0009375Colonic Neoplasms1CTD_human
HgeneDNMT1C0020071Hereditary Sensory Autonomic Neuropathy, Type 11CTD_human
HgeneDNMT1C0020072Hereditary Sensory Autonomic Neuropathy, Type 21CTD_human
HgeneDNMT1C0020074HSAN Type IV1CTD_human
HgeneDNMT1C0020075Hereditary Sensory Autonomic Neuropathy, Type 51CTD_human
HgeneDNMT1C0025149Medulloblastoma1CTD_human
HgeneDNMT1C0027626Neoplasm Invasiveness1CTD_human
HgeneDNMT1C0027889Hereditary Sensory and Autonomic Neuropathies1CTD_human
HgeneDNMT1C0033578Prostatic Neoplasms1CTD_human
HgeneDNMT1C0086405Hereditary Sensory Radicular Neuropathy1CTD_human
HgeneDNMT1C0205641Adenocarcinoma, Basal Cell1CTD_human
HgeneDNMT1C0205642Adenocarcinoma, Oxyphilic1CTD_human
HgeneDNMT1C0205643Carcinoma, Cribriform1CTD_human
HgeneDNMT1C0205644Carcinoma, Granular Cell1CTD_human
HgeneDNMT1C0205645Adenocarcinoma, Tubular1CTD_human
HgeneDNMT1C0205696Anaplastic carcinoma1CTD_human
HgeneDNMT1C0205697Carcinoma, Spindle-Cell1CTD_human
HgeneDNMT1C0205698Undifferentiated carcinoma1CTD_human
HgeneDNMT1C0205699Carcinomatosis1CTD_human
HgeneDNMT1C0205833Medullomyoblastoma1CTD_human
HgeneDNMT1C0278510Childhood Medulloblastoma1CTD_human
HgeneDNMT1C0278876Adult Medulloblastoma1CTD_human
HgeneDNMT1C0282612Prostatic Intraepithelial Neoplasias1CTD_human
HgeneDNMT1C0338630Senile Paranoid Dementia1CTD_human
HgeneDNMT1C0376280Anxiety States, Neurotic1CTD_human
HgeneDNMT1C0376358Malignant neoplasm of prostate1CTD_human
HgeneDNMT1C0497327Dementia1CTD_human
HgeneDNMT1C0525045Mood Disorders1PSYGENET
HgeneDNMT1C0699739Sensory Neuropathy, Hereditary1CTD_human
HgeneDNMT1C0751071Familial Dementia1CTD_human
HgeneDNMT1C0751291Desmoplastic Medulloblastoma1CTD_human
HgeneDNMT1C0887833Carcinoma, Pancreatic Ductal1CTD_human
HgeneDNMT1C0971858Arthritis, Collagen-Induced1CTD_human
HgeneDNMT1C0993582Arthritis, Experimental1CTD_human
HgeneDNMT1C1275668Melanotic medulloblastoma1CTD_human
HgeneDNMT1C1279420Anxiety neurosis (finding)1CTD_human
HgeneDNMT1C2931852Clear-cell metastatic renal cell carcinoma1CTD_human
TgeneC0022658Kidney Diseases3CTD_human
TgeneC0022660Kidney Failure, Acute3CTD_human
TgeneC1565662Acute Kidney Insufficiency3CTD_human
TgeneC2609414Acute kidney injury3CTD_human
TgeneC1855796Hypoproteinemia, Hypercatabolic2CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0004364Autoimmune Diseases1CTD_human
TgeneC0013221Drug toxicity1CTD_human
TgeneC0018799Heart Diseases1CTD_human
TgeneC0020455Hypergammaglobulinemia1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0041755Adverse reaction to drug1CTD_human
TgeneC0079744Diffuse Large B-Cell Lymphoma1CTD_human
TgeneC0079774Peripheral T-Cell Lymphoma1CTD_human
TgeneC0268389Amyloidosis, familial visceral1CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC1858266Bare Lymphocyte Syndrome, Type I1ORPHANET
TgeneC4302669Autosomal dominant beta2-microglobulinic amyloidosis1ORPHANET