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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: 35031

FusionGeneSummary for SMYD3_EDARADD

check button Fusion gene summary
Fusion gene informationFusion gene name: SMYD3_EDARADD
Fusion gene ID: 35031
HgeneTgene
Gene symbol

SMYD3

EDARADD

Gene ID

64754

128178

Gene nameSET and MYND domain containing 3EDAR associated death domain
SynonymsKMT3E|ZMYND1|ZNFN3A1|bA74P14.1ECTD11A|ECTD11B|ED3|EDA3
Cytomap

1q44

1q42.3-q43

Type of geneprotein-codingprotein-coding
Descriptionhistone-lysine N-methyltransferase SMYD3SET and MYND domain-containing protein 3bA74P14.1 (novel protein)zinc finger MYND domain-containing protein 1zinc finger protein, subfamily 3A (MYND domain containing), 1zinc finger, MYND domain containing 1ectodysplasin-A receptor-associated adapter proteinEDAR-associated death domain proteincrinkled homologectodysplasia A receptor associated death domain
Modification date2018051920180523
UniProtAcc

Q9H7B4

Q8WWZ3

Ensembl transtripts involved in fusion geneENST00000541742, ENST00000490107, 
ENST00000388985, ENST00000366517, 
ENST00000403792, 		ENST00000334232, 
ENST00000359362, 
Fusion gene scores* DoF score10 X 7 X 9=6304 X 3 X 4=48
# samples 125
** MAII scorelog2(12/630*10)=-2.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SMYD3 [Title/Abstract] AND EDARADD [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

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
TCGARVLUADTCGA-05-4250-01ASMYD3chr1

246670356

-EDARADDchr1

236572516

+
* 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-3CDSENST00000541742ENST00000334232SMYD3chr1

246670356

-EDARADDchr1

236572516

+
intron-3CDSENST00000541742ENST00000359362SMYD3chr1

246670356

-EDARADDchr1

236572516

+
5UTR-3CDSENST00000490107ENST00000334232SMYD3chr1

246670356

-EDARADDchr1

236572516

+
5UTR-3CDSENST00000490107ENST00000359362SMYD3chr1

246670356

-EDARADDchr1

236572516

+
Frame-shitENST00000388985ENST00000334232SMYD3chr1

246670356

-EDARADDchr1

236572516

+
Frame-shitENST00000388985ENST00000359362SMYD3chr1

246670356

-EDARADDchr1

236572516

+
intron-3CDSENST00000366517ENST00000334232SMYD3chr1

246670356

-EDARADDchr1

236572516

+
intron-3CDSENST00000366517ENST00000359362SMYD3chr1

246670356

-EDARADDchr1

236572516

+
Frame-shitENST00000403792ENST00000334232SMYD3chr1

246670356

-EDARADDchr1

236572516

+
Frame-shitENST00000403792ENST00000359362SMYD3chr1

246670356

-EDARADDchr1

236572516

+

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FusionProtFeatures for SMYD3_EDARADD


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SMYD3

Q9H7B4

EDARADD

Q8WWZ3

Histone methyltransferase. Specifically methylates 'Lys-4' of histone H3, inducing di- and tri-methylation, but notmonomethylation (PubMed:15235609, PubMed:22419068). Alsomethylates 'Lys-5' of histone H4 (PubMed:22419068). Plays animportant role in transcriptional activation as a member of an RNApolymerase complex (PubMed:15235609). Binds DNA containing 5'-CCCTCC-3' or 5'-GAGGGG-3' sequences (PubMed:15235609).{ECO:0000269|PubMed:15235609, ECO:0000269|PubMed:22419068}. Adapter protein that interacts with EDAR DEATH domainand couples the receptor to EDA signaling pathway duringmorphogenesis of ectodermal organs. Mediates the activation of NF-kappa-B. {ECO:0000269|PubMed:11882293}.

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 SMYD3_EDARADD


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 SMYD3_EDARADD


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
SMYD3MEST, HELZ, POLR2A, HSP90AA1, HIST3H3, ESR1, EZH2, EED, APP, CAMK2B, NDUFAB1, NFYB, CYP39A1, VANGL1, H3F3C, TRIT1, ZNF557, CDC37, HSP90AB1, HSP90AB4P, HSP90AB3P, HSP90AA5P, MAGED4B, KDM3B, RCAN3, PLCB3, TRMT2A, KMT2EEDARADDEDAR, TRAF2, TAB2, TRAF6, MAP3K7, SDCBP, UBE2I, SUMO1, RNF111, WDYHV1, EDARADD, SHPRH, SUMO1P1


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 SMYD3_EDARADD


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 SMYD3_EDARADD


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSMYD3C0236733Amphetamine-Related Disorders1CTD_human
TgeneEDARADDC3539920ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE2UNIPROT
TgeneEDARADDC3541517ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT2UNIPROT