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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: 9072

FusionGeneSummary for CXXC5_SMYD3

check button Fusion gene summary
Fusion gene informationFusion gene name: CXXC5_SMYD3
Fusion gene ID: 9072
HgeneTgene
Gene symbol

CXXC5

SMYD3

Gene ID

51523

64754

Gene nameCXXC finger protein 5SET and MYND domain containing 3
SynonymsCF5|HSPC195|RINF|WIDKMT3E|ZMYND1|ZNFN3A1|bA74P14.1
Cytomap

5q31.2

1q44

Type of geneprotein-codingprotein-coding
DescriptionCXXC-type zinc finger protein 5CXXC finger 5 proteinWT1-induced Inhibitor of Dishevelledputative MAPK-activating protein PM08putative NF-kappa-B-activating protein 102retinoid-inducible nuclear factorhistone-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 date2018052220180519
UniProtAcc

Q7LFL8

Q9H7B4

Ensembl transtripts involved in fusion geneENST00000302517, ENST00000511048, 
ENST00000515038, 		ENST00000541742, 
ENST00000490107, ENST00000388985, 
ENST00000366517, ENST00000403792, 
Fusion gene scores* DoF score1 X 1 X 1=117 X 9 X 13=1989
# samples 131
** MAII scorelog2(1/1*10)=3.32192809488736log2(31/1989*10)=-2.68170315555951
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CXXC5 [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
HgeneCXXC5

GO:0000122

negative regulation of transcription by RNA polymerase II

23303788


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
ChiTaRS3.1AI351776CXXC5chr5

139062327

-SMYD3chr1

246657067

+
* 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-intronENST00000302517ENST00000541742CXXC5chr5

139062327

-SMYD3chr1

246657067

+
intron-intronENST00000302517ENST00000490107CXXC5chr5

139062327

-SMYD3chr1

246657067

+
intron-intronENST00000302517ENST00000388985CXXC5chr5

139062327

-SMYD3chr1

246657067

+
intron-intronENST00000302517ENST00000366517CXXC5chr5

139062327

-SMYD3chr1

246657067

+
intron-intronENST00000302517ENST00000403792CXXC5chr5

139062327

-SMYD3chr1

246657067

+
intron-intronENST00000511048ENST00000541742CXXC5chr5

139062327

-SMYD3chr1

246657067

+
intron-intronENST00000511048ENST00000490107CXXC5chr5

139062327

-SMYD3chr1

246657067

+
intron-intronENST00000511048ENST00000388985CXXC5chr5

139062327

-SMYD3chr1

246657067

+
intron-intronENST00000511048ENST00000366517CXXC5chr5

139062327

-SMYD3chr1

246657067

+
intron-intronENST00000511048ENST00000403792CXXC5chr5

139062327

-SMYD3chr1

246657067

+
intron-intronENST00000515038ENST00000541742CXXC5chr5

139062327

-SMYD3chr1

246657067

+
intron-intronENST00000515038ENST00000490107CXXC5chr5

139062327

-SMYD3chr1

246657067

+
intron-intronENST00000515038ENST00000388985CXXC5chr5

139062327

-SMYD3chr1

246657067

+
intron-intronENST00000515038ENST00000366517CXXC5chr5

139062327

-SMYD3chr1

246657067

+
intron-intronENST00000515038ENST00000403792CXXC5chr5

139062327

-SMYD3chr1

246657067

+

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FusionProtFeatures for CXXC5_SMYD3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CXXC5

Q7LFL8

SMYD3

Q9H7B4

May indirectly participate in activation of the NF-kappa-B and MAPK pathways. Acts as a mediator of BMP4-mediatedmodulation of canonical Wnt signaling activity in neural stemcells (By similarity). Required for DNA damage-induced ATMphosphorylation, p53 activation and cell cycle arrest. Involved inmyelopoiesis. Transcription factor. Binds to the oxygen responsiveelement of COX4I2 and represses its transcription under hypoxiaconditions (4% oxygen), as well as normoxia conditions (20%oxygen) (PubMed:23303788). May repress COX4I2 transactivationinduced by CHCHD2 and RBPJ (PubMed:23303788). {ECO:0000250,ECO:0000269|PubMed:19182210, ECO:0000269|PubMed:19557330,ECO:0000269|PubMed:23303788}. 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 CXXC5_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 CXXC5_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


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 CXXC5_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 CXXC5_SMYD3


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