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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:DNMT3A-NUMA1 (FusionGDB2 ID:HG1788TG4926)

Fusion Gene Summary for DNMT3A-NUMA1

check button Fusion gene summary
Fusion gene informationFusion gene name: DNMT3A-NUMA1
Fusion gene ID: hg1788tg4926
HgeneTgene
Gene symbol

DNMT3A

NUMA1

Gene ID

1788

4926

Gene nameDNA methyltransferase 3 alphanuclear mitotic apparatus protein 1
SynonymsDNMT3A2|HESJAS|M.HsaIIIA|TBRSNMP-22|NUMA
Cytomap('DNMT3A')('NUMA1')

2p23.3

11q13.4

Type of geneprotein-codingprotein-coding
DescriptionDNA (cytosine-5)-methyltransferase 3ADNA (cytosine-5-)-methyltransferase 3 alphaDNA MTase HsaIIIADNA cytosine methyltransferase 3A2nuclear mitotic apparatus protein 1SP-H antigencentrophilin stabilizes mitotic spindle in mitotic cellsnuclear matrix protein-22structural nuclear protein
Modification date2020032220200313
UniProtAcc

Q9Y6K1

Q14980

Ensembl transtripts involved in fusion geneENST00000264709, ENST00000321117, 
ENST00000380746, ENST00000402667, 
ENST00000406659, ENST00000474887, 
Fusion gene scores* DoF score8 X 10 X 7=56016 X 15 X 4=960
# samples 916
** MAII scorelog2(9/560*10)=-2.63742992061529
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/960*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DNMT3A [Title/Abstract] AND NUMA1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDNMT3A(25494403)-NUMA1(71714553), # 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
HgeneDNMT3A

GO:0006306

DNA methylation

12138111|19786833|23042785

TgeneNUMA1

GO:0000132

establishment of mitotic spindle orientation

21816348

TgeneNUMA1

GO:0030953

astral microtubule organization

12445386

TgeneNUMA1

GO:0060236

regulation of mitotic spindle organization

26195665

TgeneNUMA1

GO:1902365

positive regulation of protein localization to spindle pole body

16076287



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/ABF083029DNMT3Achr2

25494403

+NUMA1chr11

71714553

-


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Fusion Gene ORF analysis for DNMT3A-NUMA1

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-3UTRENST00000264709ENST00000351960DNMT3Achr2

25494403

+NUMA1chr11

71714553

-
intron-3UTRENST00000264709ENST00000358965DNMT3Achr2

25494403

+NUMA1chr11

71714553

-
intron-3UTRENST00000264709ENST00000393695DNMT3Achr2

25494403

+NUMA1chr11

71714553

-
intron-3UTRENST00000321117ENST00000351960DNMT3Achr2

25494403

+NUMA1chr11

71714553

-
intron-3UTRENST00000321117ENST00000358965DNMT3Achr2

25494403

+NUMA1chr11

71714553

-
intron-3UTRENST00000321117ENST00000393695DNMT3Achr2

25494403

+NUMA1chr11

71714553

-
intron-3UTRENST00000380746ENST00000351960DNMT3Achr2

25494403

+NUMA1chr11

71714553

-
intron-3UTRENST00000380746ENST00000358965DNMT3Achr2

25494403

+NUMA1chr11

71714553

-
intron-3UTRENST00000380746ENST00000393695DNMT3Achr2

25494403

+NUMA1chr11

71714553

-
intron-3UTRENST00000402667ENST00000351960DNMT3Achr2

25494403

+NUMA1chr11

71714553

-
intron-3UTRENST00000402667ENST00000358965DNMT3Achr2

25494403

+NUMA1chr11

71714553

-
intron-3UTRENST00000402667ENST00000393695DNMT3Achr2

25494403

+NUMA1chr11

71714553

-
intron-3UTRENST00000406659ENST00000351960DNMT3Achr2

25494403

+NUMA1chr11

71714553

-
intron-3UTRENST00000406659ENST00000358965DNMT3Achr2

25494403

+NUMA1chr11

71714553

-
intron-3UTRENST00000406659ENST00000393695DNMT3Achr2

25494403

+NUMA1chr11

71714553

-
intron-3UTRENST00000474887ENST00000351960DNMT3Achr2

25494403

+NUMA1chr11

71714553

-
intron-3UTRENST00000474887ENST00000358965DNMT3Achr2

25494403

+NUMA1chr11

71714553

-
intron-3UTRENST00000474887ENST00000393695DNMT3Achr2

25494403

+NUMA1chr11

71714553

-
intron-intronENST00000264709ENST00000543450DNMT3Achr2

25494403

+NUMA1chr11

71714553

-
intron-intronENST00000321117ENST00000543450DNMT3Achr2

25494403

+NUMA1chr11

71714553

-
intron-intronENST00000380746ENST00000543450DNMT3Achr2

25494403

+NUMA1chr11

71714553

-
intron-intronENST00000402667ENST00000543450DNMT3Achr2

25494403

+NUMA1chr11

71714553

-
intron-intronENST00000406659ENST00000543450DNMT3Achr2

25494403

+NUMA1chr11

71714553

-
intron-intronENST00000474887ENST00000543450DNMT3Achr2

25494403

+NUMA1chr11

71714553

-

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 DNMT3A-NUMA1


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 DNMT3A-NUMA1


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/:25494403/:71714553)
- 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
DNMT3A

Q9Y6K1

NUMA1

Q14980

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. It modifies DNA in a non-processive manner and also methylates non-CpG sites. May preferentially methylate DNA linker between 2 nucleosomal cores and is inhibited by histone H1. Plays a role in paternal and maternal imprinting. Required for methylation of most imprinted loci in germ cells. Acts as a transcriptional corepressor for ZBTB18. Recruited to trimethylated 'Lys-36' of histone H3 (H3K36me3) sites. Can actively repress transcription through the recruitment of HDAC activity. {ECO:0000269|PubMed:16357870, ECO:0000269|PubMed:30478443}.FUNCTION: Microtubule (MT)-binding protein that plays a role in the formation and maintenance of the spindle poles and the alignement and the segregation of chromosomes during mitotic cell division (PubMed:7769006, PubMed:17172455, PubMed:19255246, PubMed:24996901, PubMed:26195665, PubMed:27462074). Functions to tether the minus ends of MTs at the spindle poles, which is critical for the establishment and maintenance of the spindle poles (PubMed:12445386, PubMed:11956313). Plays a role in the establishment of the mitotic spindle orientation during metaphase and elongation during anaphase in a dynein-dynactin-dependent manner (PubMed:23870127, PubMed:24109598, PubMed:24996901, PubMed:26765568). In metaphase, part of a ternary complex composed of GPSM2 and G(i) alpha proteins, that regulates the recruitment and anchorage of the dynein-dynactin complex in the mitotic cell cortex regions situated above the two spindle poles, and hence regulates the correct oritentation of the mitotic spindle (PubMed:23027904, PubMed:22327364, PubMed:23921553). During anaphase, mediates the recruitment and accumulation of the dynein-dynactin complex at the cell membrane of the polar cortical region through direct association with phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), and hence participates in the regulation of the spindle elongation and chromosome segregation (PubMed:22327364, PubMed:23921553, PubMed:24996901, PubMed:24371089). Binds also to other polyanionic phosphoinositides, such as phosphatidylinositol 3-phosphate (PIP), lysophosphatidic acid (LPA) and phosphatidylinositol triphosphate (PIP3), in vitro (PubMed:24996901, PubMed:24371089). Also required for proper orientation of the mitotic spindle during asymmetric cell divisions (PubMed:21816348). Plays a role in mitotic MT aster assembly (PubMed:11163243, PubMed:11229403, PubMed:12445386). Involved in anastral spindle assembly (PubMed:25657325). Positively regulates TNKS protein localization to spindle poles in mitosis (PubMed:16076287). Highly abundant component of the nuclear matrix where it may serve a non-mitotic structural role, occupies the majority of the nuclear volume (PubMed:10075938). Required for epidermal differentiation and hair follicle morphogenesis (By similarity). {ECO:0000250|UniProtKB:E9Q7G0, ECO:0000269|PubMed:11163243, ECO:0000269|PubMed:11229403, ECO:0000269|PubMed:11956313, ECO:0000269|PubMed:12445386, ECO:0000269|PubMed:16076287, ECO:0000269|PubMed:17172455, ECO:0000269|PubMed:19255246, ECO:0000269|PubMed:22327364, ECO:0000269|PubMed:23027904, ECO:0000269|PubMed:23870127, ECO:0000269|PubMed:23921553, ECO:0000269|PubMed:24109598, ECO:0000269|PubMed:24371089, ECO:0000269|PubMed:24996901, ECO:0000269|PubMed:25657325, ECO:0000269|PubMed:26195665, ECO:0000269|PubMed:26765568, ECO:0000269|PubMed:27462074, ECO:0000269|PubMed:7769006, ECO:0000305|PubMed:10075938, ECO:0000305|PubMed:21816348}.

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 DNMT3A-NUMA1


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 DNMT3A-NUMA1


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 DNMT3A-NUMA1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneDNMT3AQ9Y6K1DB01262DecitabineInhibitorSmall moleculeApproved|Investigational
HgeneDNMT3AQ9Y6K1DB00721ProcaineInhibitorSmall moleculeApproved|Investigational|Vet_approved

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Related Diseases for DNMT3A-NUMA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDNMT3AC4014545Tatton Brown Rahman syndrome4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneDNMT3AC0018273Growth Disorders2CTD_human
HgeneDNMT3AC0079774Peripheral T-Cell Lymphoma2CTD_human
HgeneDNMT3AC0006142Malignant neoplasm of breast1CTD_human
HgeneDNMT3AC0010346Crohn Disease1CTD_human
HgeneDNMT3AC0013336Dwarfism1CTD_human
HgeneDNMT3AC0020796Profound Mental Retardation1CTD_human
HgeneDNMT3AC0020981Angioimmunoblastic Lymphadenopathy1CTD_human
HgeneDNMT3AC0023465Acute monocytic leukemia1CTD_human
HgeneDNMT3AC0023487Acute Promyelocytic Leukemia1CTD_human
HgeneDNMT3AC0024121Lung Neoplasms1CTD_human
HgeneDNMT3AC0025363Mental Retardation, Psychosocial1CTD_human
HgeneDNMT3AC0025958Microcephaly1CTD_human
HgeneDNMT3AC0027643Neoplasm Recurrence, Local1CTD_human
HgeneDNMT3AC0036920Sezary Syndrome1CTD_human
HgeneDNMT3AC0079773Lymphoma, T-Cell, Cutaneous1CTD_human
HgeneDNMT3AC0156147Crohn's disease of large bowel1CTD_human
HgeneDNMT3AC0242379Malignant neoplasm of lung1CTD_human
HgeneDNMT3AC0265202Seckel syndrome1GENOMICS_ENGLAND
HgeneDNMT3AC0267380Crohn's disease of the ileum1CTD_human
HgeneDNMT3AC0282631Facies1CTD_human
HgeneDNMT3AC0349639Juvenile Myelomonocytic Leukemia1CTD_human
HgeneDNMT3AC0376407Granulomatous Slack Skin1CTD_human
HgeneDNMT3AC0376634Craniofacial Abnormalities1CTD_human
HgeneDNMT3AC0678202Regional enteritis1CTD_human
HgeneDNMT3AC0678222Breast Carcinoma1CTD_human
HgeneDNMT3AC0917816Mental deficiency1CTD_human
HgeneDNMT3AC0949272IIeocolitis1CTD_human
HgeneDNMT3AC1257931Mammary Neoplasms, Human1CTD_human
HgeneDNMT3AC1458155Mammary Neoplasms1CTD_human
HgeneDNMT3AC1510586Autism Spectrum Disorders1CTD_human
HgeneDNMT3AC1956147Microlissencephaly1CTD_human
HgeneDNMT3AC2931852Clear-cell metastatic renal cell carcinoma1CTD_human
HgeneDNMT3AC3496069cocaine use1PSYGENET
HgeneDNMT3AC3714756Intellectual Disability1CTD_human
HgeneDNMT3AC3853041Severe Congenital Microcephaly1CTD_human
HgeneDNMT3AC4704874Mammary Carcinoma, Human1CTD_human
TgeneC0023487Acute Promyelocytic Leukemia1CTD_human;ORPHANET
TgeneC0162820Dermatitis, Allergic Contact1CTD_human