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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:DNMT3B-ALKBH8 (FusionGDB2 ID:HG1789TG91801)

Fusion Gene Summary for DNMT3B-ALKBH8

check button Fusion gene summary
Fusion gene informationFusion gene name: DNMT3B-ALKBH8
Fusion gene ID: hg1789tg91801
HgeneTgene
Gene symbol

DNMT3B

ALKBH8

Gene ID

1789

91801

Gene nameDNA methyltransferase 3 betaalkB homolog 8, tRNA methyltransferase
SynonymsICF|ICF1|M.HsaIIIBABH8|MRT71|TRM9|TRMT9|TRMT9A
Cytomap('DNMT3B')('ALKBH8')

20q11.21

11q22.3

Type of geneprotein-codingprotein-coding
DescriptionDNA (cytosine-5)-methyltransferase 3BDNA (cytosine-5-)-methyltransferase 3 betaDNA MTase HsaIIIBDNA cytosine-5--methyltransferase 3 betaDNA methyltransferase HsaIIIBalkylated DNA repair protein alkB homolog 8AlkB homologue 8S-adenosyl-L-methionine-dependent tRNA methyltransferase ABH8alkB, alkylation repair homolog 8probable alpha-ketoglutarate-dependent dioxygenase ABH8tRNA (carboxymethyluridine(34)-5-O)-methyl
Modification date2020031320200314
UniProtAcc

Q9UBC3

.
Ensembl transtripts involved in fusion geneENST00000201963, ENST00000328111, 
ENST00000344505, ENST00000348286, 
ENST00000353855, ENST00000375623, 
ENST00000443239, ENST00000456297, 
Fusion gene scores* DoF score7 X 7 X 5=2452 X 3 X 1=6
# samples 83
** MAII scorelog2(8/245*10)=-1.61470984411521
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/6*10)=2.32192809488736
Context

PubMed: DNMT3B [Title/Abstract] AND ALKBH8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDNMT3B(31387015)-ALKBH8(107435942), # 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
HgeneDNMT3B

GO:0000122

negative regulation of transcription by RNA polymerase II

17303076

TgeneALKBH8

GO:0002098

tRNA wobble uridine modification

21285950

TgeneALKBH8

GO:0006974

cellular response to DNA damage stimulus

20308323

TgeneALKBH8

GO:0030488

tRNA methylation

20308323

TgeneALKBH8

GO:0055114

oxidation-reduction process

21285950



check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChiTaRS5.0N/ACD653127DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-


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Fusion Gene ORF analysis for DNMT3B-ALKBH8

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-5UTRENST00000201963ENST00000389568DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-5UTRENST00000328111ENST00000389568DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-5UTRENST00000344505ENST00000389568DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-5UTRENST00000348286ENST00000389568DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-5UTRENST00000353855ENST00000389568DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-5UTRENST00000375623ENST00000389568DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-5UTRENST00000443239ENST00000389568DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-5UTRENST00000456297ENST00000389568DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000201963ENST00000417449DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000201963ENST00000428149DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000201963ENST00000429370DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000201963ENST00000530933DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000328111ENST00000417449DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000328111ENST00000428149DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000328111ENST00000429370DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000328111ENST00000530933DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000344505ENST00000417449DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000344505ENST00000428149DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000344505ENST00000429370DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000344505ENST00000530933DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000348286ENST00000417449DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000348286ENST00000428149DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000348286ENST00000429370DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000348286ENST00000530933DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000353855ENST00000417449DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000353855ENST00000428149DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000353855ENST00000429370DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000353855ENST00000530933DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000375623ENST00000417449DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000375623ENST00000428149DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000375623ENST00000429370DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000375623ENST00000530933DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000443239ENST00000417449DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000443239ENST00000428149DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000443239ENST00000429370DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000443239ENST00000530933DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000456297ENST00000417449DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000456297ENST00000428149DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000456297ENST00000429370DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-
intron-intronENST00000456297ENST00000530933DNMT3Bchr20

31387015

+ALKBH8chr11

107435942

-

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 DNMT3B-ALKBH8


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 DNMT3B-ALKBH8


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/:31387015/:107435942)
- 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
DNMT3B

Q9UBC3

.
FUNCTION: Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. May preferentially methylates nucleosomal DNA within the nucleosome core region. May function as transcriptional co-repressor by associating with CBX4 and independently of DNA methylation. Seems to be involved in gene silencing (By similarity). In association with DNMT1 and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9. Isoforms 4 and 5 are probably not functional due to the deletion of two conserved methyltransferase motifs. Functions as a transcriptional corepressor by associating with ZHX1. Required for DUX4 silencing in somatic cells (PubMed:27153398). {ECO:0000250, ECO:0000269|PubMed:16357870, ECO:0000269|PubMed:17303076, ECO:0000269|PubMed:18413740, ECO:0000269|PubMed:18567530, ECO:0000269|PubMed:27153398}.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 DNMT3B-ALKBH8


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 DNMT3B-ALKBH8


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 DNMT3B-ALKBH8


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneDNMT3BQ9UBC3DB01262DecitabineInhibitorSmall moleculeApproved|Investigational

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Related Diseases for DNMT3B-ALKBH8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDNMT3BC4551557IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 111CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneDNMT3BC0006142Malignant neoplasm of breast2CTD_human
HgeneDNMT3BC0678222Breast Carcinoma2CTD_human
HgeneDNMT3BC1257931Mammary Neoplasms, Human2CTD_human
HgeneDNMT3BC1458155Mammary Neoplasms2CTD_human
HgeneDNMT3BC4704874Mammary Carcinoma, Human2CTD_human
HgeneDNMT3BC0003257Antibody Deficiency Syndrome1CTD_human
HgeneDNMT3BC0007097Carcinoma1CTD_human
HgeneDNMT3BC0021051Immunologic Deficiency Syndromes1CTD_human
HgeneDNMT3BC0024623Malignant neoplasm of stomach1CTD_human
HgeneDNMT3BC0033578Prostatic Neoplasms1CTD_human
HgeneDNMT3BC0036341Schizophrenia1PSYGENET
HgeneDNMT3BC0038356Stomach Neoplasms1CTD_human
HgeneDNMT3BC0205696Anaplastic carcinoma1CTD_human
HgeneDNMT3BC0205697Carcinoma, Spindle-Cell1CTD_human
HgeneDNMT3BC0205698Undifferentiated carcinoma1CTD_human
HgeneDNMT3BC0205699Carcinomatosis1CTD_human
HgeneDNMT3BC0376358Malignant neoplasm of prostate1CTD_human
HgeneDNMT3BC0376634Craniofacial Abnormalities1CTD_human
HgeneDNMT3BC0525045Mood Disorders1PSYGENET
HgeneDNMT3BC0796113Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor1GENOMICS_ENGLAND
HgeneDNMT3BC1510586Autism Spectrum Disorders1CTD_human
HgeneDNMT3BC1656427Early onset schizophrenia1PSYGENET
HgeneDNMT3BC1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgeneDNMT3BC1834671FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B1UNIPROT
HgeneDNMT3BC2931456Prostate cancer, familial1CTD_human
HgeneDNMT3BC4722327PROSTATE CANCER, HEREDITARY, 11CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0027626Neoplasm Invasiveness1CTD_human
TgeneC0036572Seizures1GENOMICS_ENGLAND
TgeneC0424605Developmental delay (disorder)1GENOMICS_ENGLAND
TgeneC0557874Global developmental delay1GENOMICS_ENGLAND
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC3714756Intellectual Disability1GENOMICS_ENGLAND
TgeneC4704874Mammary Carcinoma, Human1CTD_human