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Fusion gene ID: 35031 |
FusionGeneSummary for SMYD3_EDARADD |
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Fusion gene information | Fusion gene name: SMYD3_EDARADD | Fusion gene ID: 35031 | Hgene | Tgene | Gene symbol | SMYD3 | EDARADD | Gene ID | 64754 | 128178 |
Gene name | SET and MYND domain containing 3 | EDAR associated death domain | |
Synonyms | KMT3E|ZMYND1|ZNFN3A1|bA74P14.1 | ECTD11A|ECTD11B|ED3|EDA3 | |
Cytomap | 1q44 | 1q42.3-q43 | |
Type of gene | protein-coding | protein-coding | |
Description | histone-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 1 | ectodysplasin-A receptor-associated adapter proteinEDAR-associated death domain proteincrinkled homologectodysplasia A receptor associated death domain | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q9H7B4 | Q8WWZ3 | |
Ensembl transtripts involved in fusion gene | ENST00000541742, ENST00000490107, ENST00000388985, ENST00000366517, ENST00000403792, | ENST00000334232, ENST00000359362, | |
Fusion gene scores | * DoF score | 10 X 7 X 9=630 | 4 X 3 X 4=48 |
# samples | 12 | 5 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | LUAD | TCGA-05-4250-01A | SMYD3 | chr1 | 246670356 | - | EDARADD | chr1 | 236572516 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-3CDS | ENST00000541742 | ENST00000334232 | SMYD3 | chr1 | 246670356 | - | EDARADD | chr1 | 236572516 | + |
intron-3CDS | ENST00000541742 | ENST00000359362 | SMYD3 | chr1 | 246670356 | - | EDARADD | chr1 | 236572516 | + |
5UTR-3CDS | ENST00000490107 | ENST00000334232 | SMYD3 | chr1 | 246670356 | - | EDARADD | chr1 | 236572516 | + |
5UTR-3CDS | ENST00000490107 | ENST00000359362 | SMYD3 | chr1 | 246670356 | - | EDARADD | chr1 | 236572516 | + |
Frame-shift | ENST00000388985 | ENST00000334232 | SMYD3 | chr1 | 246670356 | - | EDARADD | chr1 | 236572516 | + |
Frame-shift | ENST00000388985 | ENST00000359362 | SMYD3 | chr1 | 246670356 | - | EDARADD | chr1 | 236572516 | + |
intron-3CDS | ENST00000366517 | ENST00000334232 | SMYD3 | chr1 | 246670356 | - | EDARADD | chr1 | 236572516 | + |
intron-3CDS | ENST00000366517 | ENST00000359362 | SMYD3 | chr1 | 246670356 | - | EDARADD | chr1 | 236572516 | + |
Frame-shift | ENST00000403792 | ENST00000334232 | SMYD3 | chr1 | 246670356 | - | EDARADD | chr1 | 236572516 | + |
Frame-shift | ENST00000403792 | ENST00000359362 | SMYD3 | chr1 | 246670356 | - | EDARADD | chr1 | 236572516 | + |
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FusionProtFeatures for SMYD3_EDARADD |
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Hgene | Tgene |
SMYD3 | EDARADD |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for SMYD3_EDARADD |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
SMYD3 | MEST, 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, KMT2E | EDARADD | EDAR, TRAF2, TAB2, TRAF6, MAP3K7, SDCBP, UBE2I, SUMO1, RNF111, WDYHV1, EDARADD, SHPRH, SUMO1P1 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SMYD3_EDARADD |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for SMYD3_EDARADD |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | SMYD3 | C0236733 | Amphetamine-Related Disorders | 1 | CTD_human |
Tgene | EDARADD | C3539920 | ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE | 2 | UNIPROT |
Tgene | EDARADD | C3541517 | ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT | 2 | UNIPROT |