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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: 10356

FusionGeneSummary for DNMT3A_HADHA

check button Fusion gene summary
Fusion gene informationFusion gene name: DNMT3A_HADHA
Fusion gene ID: 10356
HgeneTgene
Gene symbol

DNMT3A

HADHA

Gene ID

1788

3030

Gene nameDNA methyltransferase 3 alphahydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
SynonymsDNMT3A2|M.HsaIIIA|TBRSECHA|GBP|HADH|LCEH|LCHAD|MTPA|TP-ALPHA
Cytomap

2p23.3

2p23.3

Type of geneprotein-codingprotein-coding
DescriptionDNA (cytosine-5)-methyltransferase 3ADNA (cytosine-5-)-methyltransferase 3 alphaDNA MTase HsaIIIADNA cytosine methyltransferase 3A2trifunctional enzyme subunit alpha, mitochondrial3-ketoacyl-Coenzyme A (CoA) thiolase, alpha subunit3-oxoacyl-CoA thiolase78 kDa gastrin-binding proteingastrin-binding proteinhydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (
Modification date2018052720180523
UniProtAcc

Q9Y6K1

P40939

Ensembl transtripts involved in fusion geneENST00000321117, ENST00000264709, 
ENST00000406659, ENST00000380746, 
ENST00000402667, ENST00000474887, 
ENST00000380649, ENST00000457468, 
ENST00000461025, 
Fusion gene scores* DoF score5 X 5 X 5=1258 X 7 X 7=392
# samples 510
** MAII scorelog2(5/125*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/392*10)=-1.97085365434048
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DNMT3A [Title/Abstract] AND HADHA [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
HgeneDNMT3A

GO:0006306

DNA methylation

12138111


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
TCGARVLIHCTCGA-EP-A2KA-01ADNMT3Achr2

25475063

-HADHAchr2

26438044

-
* 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-3CDSENST00000321117ENST00000380649DNMT3Achr2

25475063

-HADHAchr2

26438044

-
intron-3CDSENST00000321117ENST00000457468DNMT3Achr2

25475063

-HADHAchr2

26438044

-
intron-intronENST00000321117ENST00000461025DNMT3Achr2

25475063

-HADHAchr2

26438044

-
intron-3CDSENST00000264709ENST00000380649DNMT3Achr2

25475063

-HADHAchr2

26438044

-
intron-3CDSENST00000264709ENST00000457468DNMT3Achr2

25475063

-HADHAchr2

26438044

-
intron-intronENST00000264709ENST00000461025DNMT3Achr2

25475063

-HADHAchr2

26438044

-
intron-3CDSENST00000406659ENST00000380649DNMT3Achr2

25475063

-HADHAchr2

26438044

-
intron-3CDSENST00000406659ENST00000457468DNMT3Achr2

25475063

-HADHAchr2

26438044

-
intron-intronENST00000406659ENST00000461025DNMT3Achr2

25475063

-HADHAchr2

26438044

-
Frame-shitENST00000380746ENST00000380649DNMT3Achr2

25475063

-HADHAchr2

26438044

-
Frame-shitENST00000380746ENST00000457468DNMT3Achr2

25475063

-HADHAchr2

26438044

-
5CDS-intronENST00000380746ENST00000461025DNMT3Achr2

25475063

-HADHAchr2

26438044

-
5UTR-3CDSENST00000402667ENST00000380649DNMT3Achr2

25475063

-HADHAchr2

26438044

-
5UTR-3CDSENST00000402667ENST00000457468DNMT3Achr2

25475063

-HADHAchr2

26438044

-
5UTR-intronENST00000402667ENST00000461025DNMT3Achr2

25475063

-HADHAchr2

26438044

-
intron-3CDSENST00000474887ENST00000380649DNMT3Achr2

25475063

-HADHAchr2

26438044

-
intron-3CDSENST00000474887ENST00000457468DNMT3Achr2

25475063

-HADHAchr2

26438044

-
intron-intronENST00000474887ENST00000461025DNMT3Achr2

25475063

-HADHAchr2

26438044

-

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FusionProtFeatures for DNMT3A_HADHA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DNMT3A

Q9Y6K1

HADHA

P40939

Required for genome-wide de novo methylation and isessential for the establishment of DNA methylation patterns duringdevelopment. DNA methylation is coordinated with methylation ofhistones. It modifies DNA in a non-processive manner and alsomethylates non-CpG sites. May preferentially methylate DNA linkerbetween 2 nucleosomal cores and is inhibited by histone H1. Playsa role in paternal and maternal imprinting. Required formethylation of most imprinted loci in germ cells. Acts as atranscriptional corepressor for ZBTB18. Recruited to trimethylated'Lys-36' of histone H3 (H3K36me3) sites. Can actively represstranscription through the recruitment of HDAC activity.{ECO:0000269|PubMed:16357870}. Bifunctional subunit.

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 DNMT3A_HADHA


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 DNMT3A_HADHA


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
DNMT3AUBE2I, MYC, ZBTB17, PIAS1, PIAS2, DNMT3B, CBX5, SUV39H1, CBX1, ZBTB18, HDAC1, RB1, DNMT3L, DNMT1, SPI1, HIST1H3E, PRMT5, HIST1H3A, UHRF1, SETDB1, EZH2, EED, CBX4, USP7, UHRF2, TRIM28, ZFP57, SALL3, F8A1, IRF9, TFAP2A, EHMT2, EHMT1, MPHOSPH8, TERF2IP, DAXX, NRIP1, PAF1, CDC73, POLR2H, POLR2C, POLR2A, RTF1, LEO1, CTR9, PTGES3, SP100, TCL1A, HIST1H2BG, TRIM25HADHAUSP49, ATG101, DDA1, GABARAPL1, GABARAPL2, GBAS, MAP1LC3A, MAP1LC3B, SQSTM1, PSMD4, UBC, ICT1, HDAC5, SPG20, LEO1, RTF1, SIRT7, CDK2, CAND1, HADHB, STT3B, PLOD3, MSN, ETFA, ZFR, TUBB4B, HNRNPH1, CA9, BTK, FN1, ATF2, IQCB1, PAN2, ABCF2, CD74, NR4A1, ATXN2L, YWHAQ, PPP6R1, PIN1, WWOX, ZBTB1, CSNK2A2, GRSF1, EMD, TUBG1, CUL7, CCDC8, ATL3, ATP1B1, EPHX1, MRPL40, NDUFB8, TOMM40, NTRK1, SCARNA22, MED4, MED23, CAPZA2, MYC, NAF1, SKI, FBXW7, MCM2, POU5F1, HSD17B10, NFATC2, CDC73, ZNF746, PTPN2, PTPRD, CD44, RELL2, SDC2, CDH5, CDH8, PARK7, VDAC1, TES


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 DNMT3A_HADHA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for DNMT3A_HADHA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDNMT3AC0079774Peripheral T-Cell Lymphoma2CTD_human
HgeneDNMT3AC0010346Crohn Disease1CTD_human
HgeneDNMT3AC0018273Growth Disorders1CTD_human
HgeneDNMT3AC0020981Angioimmunoblastic Lymphadenopathy1CTD_human
HgeneDNMT3AC0023465Acute monocytic leukemia1CTD_human
HgeneDNMT3AC0023487Acute Promyelocytic Leukemia1CTD_human
HgeneDNMT3AC0024121Lung Neoplasms1CTD_human
HgeneDNMT3AC0027643Neoplasm Recurrence, Local1CTD_human
HgeneDNMT3AC0036920Sezary Syndrome1CTD_human
HgeneDNMT3AC0079773Lymphoma, T-Cell, Cutaneous1CTD_human
HgeneDNMT3AC0282631Facies1CTD_human
HgeneDNMT3AC0349639Juvenile Myelomonocytic Leukemia1CTD_human
HgeneDNMT3AC0376634Craniofacial Abnormalities1CTD_human
HgeneDNMT3AC1458155Mammary Neoplasms1CTD_human
HgeneDNMT3AC1510586Autism Spectrum Disorders1CTD_human
HgeneDNMT3AC3496069cocaine use1PSYGENET
HgeneDNMT3AC3714756Intellectual Disability1CTD_human
HgeneDNMT3AC4014545TATTON-BROWN-RAHMAN SYNDROME1ORPHANET;UNIPROT
TgeneHADHAC1969443Trifunctional Protein Deficiency With Myopathy And Neuropathy5CTD_human;HPO;ORPHANET;UNIPROT
TgeneHADHAC0029408Degenerative polyarthritis1CTD_human
TgeneHADHAC0151744Myocardial Ischemia1CTD_human
TgeneHADHAC4277682Chemical and Drug Induced Liver Injury1CTD_human