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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: 7761

FusionGeneSummary for CNST_SMYD3

check button Fusion gene summary
Fusion gene informationFusion gene name: CNST_SMYD3
Fusion gene ID: 7761
HgeneTgene
Gene symbol

CNST

SMYD3

Gene ID

163882

64754

Gene nameconsortin, connexin sorting proteinSET and MYND domain containing 3
SynonymsC1orf71|PPP1R64KMT3E|ZMYND1|ZNFN3A1|bA74P14.1
Cytomap

1q44

1q44

Type of geneprotein-codingprotein-coding
Descriptionconsortinprotein phosphatase 1, regulatory subunit 64histone-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
Modification date2018051920180519
UniProtAcc

Q6PJW8

Q9H7B4

Ensembl transtripts involved in fusion geneENST00000483271, ENST00000366513, 
ENST00000366512, 		ENST00000541742, 
ENST00000490107, ENST00000388985, 
ENST00000366517, ENST00000403792, 
Fusion gene scores* DoF score5 X 4 X 4=8017 X 9 X 13=1989
# samples 531
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(31/1989*10)=-2.68170315555951
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CNST [Title/Abstract] AND SMYD3 [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
HgeneCNST

GO:0010923

negative regulation of phosphatase activity

19389623


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
TCGARVPRADTCGA-XQ-A8TB-01ACNSTchr1

246729965

+SMYD3chr1

246518396

-
* 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
3UTR-5UTRENST00000483271ENST00000541742CNSTchr1

246729965

+SMYD3chr1

246518396

-
3UTR-5UTRENST00000483271ENST00000490107CNSTchr1

246729965

+SMYD3chr1

246518396

-
3UTR-5UTRENST00000483271ENST00000388985CNSTchr1

246729965

+SMYD3chr1

246518396

-
3UTR-intronENST00000483271ENST00000366517CNSTchr1

246729965

+SMYD3chr1

246518396

-
3UTR-intronENST00000483271ENST00000403792CNSTchr1

246729965

+SMYD3chr1

246518396

-
5UTR-5UTRENST00000366513ENST00000541742CNSTchr1

246729965

+SMYD3chr1

246518396

-
5UTR-5UTRENST00000366513ENST00000490107CNSTchr1

246729965

+SMYD3chr1

246518396

-
5UTR-5UTRENST00000366513ENST00000388985CNSTchr1

246729965

+SMYD3chr1

246518396

-
5UTR-intronENST00000366513ENST00000366517CNSTchr1

246729965

+SMYD3chr1

246518396

-
5UTR-intronENST00000366513ENST00000403792CNSTchr1

246729965

+SMYD3chr1

246518396

-
5UTR-5UTRENST00000366512ENST00000541742CNSTchr1

246729965

+SMYD3chr1

246518396

-
5UTR-5UTRENST00000366512ENST00000490107CNSTchr1

246729965

+SMYD3chr1

246518396

-
5UTR-5UTRENST00000366512ENST00000388985CNSTchr1

246729965

+SMYD3chr1

246518396

-
5UTR-intronENST00000366512ENST00000366517CNSTchr1

246729965

+SMYD3chr1

246518396

-
5UTR-intronENST00000366512ENST00000403792CNSTchr1

246729965

+SMYD3chr1

246518396

-

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FusionProtFeatures for CNST_SMYD3


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

Q6PJW8

SMYD3

Q9H7B4

Required for targeting of connexins to the plasmamembrane. {ECO:0000269|PubMed:19864490}. 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}.

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 CNST_SMYD3


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 CNST_SMYD3


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
CNSTEWSR1, PPP1CA, GJB2, GJB6, GJB3, GJB1, GJA1, GJC1, POT1, PPP1CC, BAG3, ROPN1, PPP1R3ASMYD3MEST, 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


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 CNST_SMYD3


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 CNST_SMYD3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCNSTC0040128Thyroid Diseases1CTD_human
TgeneSMYD3C0236733Amphetamine-Related Disorders1CTD_human