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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: 4929

FusionGeneSummary for C2CD3_MYEOV

check button Fusion gene summary
Fusion gene informationFusion gene name: C2CD3_MYEOV
Fusion gene ID: 4929
HgeneTgene
Gene symbol

C2CD3

MYEOV

Gene ID

26005

26579

Gene nameC2 calcium dependent domain containing 3myeloma overexpressed
SynonymsOFD14OCIM
Cytomap

11q13.4

11q13.3

Type of geneprotein-codingprotein-coding
DescriptionC2 domain-containing protein 3myeloma-overexpressed gene proteinmyeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)myeloma overexpressed gene (in a subset of t(11;14) positive multiple myelomas)oncogene in multiple myeloma
Modification date2018051920180519
UniProtAcc

Q4AC94

Q96EZ4

Ensembl transtripts involved in fusion geneENST00000334126, ENST00000313663, 
ENST00000542452, ENST00000539061, 
ENST00000441339, ENST00000308946, 
ENST00000535407, ENST00000541137, 
Fusion gene scores* DoF score13 X 11 X 8=114413 X 4 X 7=364
# samples 1414
** MAII scorelog2(14/1144*10)=-3.03058831983342
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/364*10)=-1.37851162325373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C2CD3 [Title/Abstract] AND MYEOV [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
HgeneC2CD3

GO:0061511

centriole elongation

24997988

HgeneC2CD3

GO:0071539

protein localization to centrosome

24997988


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
TCGALDBLCATCGA-DK-A1AF-01AC2CD3chr11

73759250

-MYEOVchr11

69156278

+
* 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
5CDS-intronENST00000334126ENST00000441339C2CD3chr11

73759250

-MYEOVchr11

69156278

+
5CDS-intronENST00000334126ENST00000308946C2CD3chr11

73759250

-MYEOVchr11

69156278

+
5CDS-intronENST00000334126ENST00000535407C2CD3chr11

73759250

-MYEOVchr11

69156278

+
5CDS-3UTRENST00000334126ENST00000541137C2CD3chr11

73759250

-MYEOVchr11

69156278

+
5CDS-intronENST00000313663ENST00000441339C2CD3chr11

73759250

-MYEOVchr11

69156278

+
5CDS-intronENST00000313663ENST00000308946C2CD3chr11

73759250

-MYEOVchr11

69156278

+
5CDS-intronENST00000313663ENST00000535407C2CD3chr11

73759250

-MYEOVchr11

69156278

+
5CDS-3UTRENST00000313663ENST00000541137C2CD3chr11

73759250

-MYEOVchr11

69156278

+
intron-intronENST00000542452ENST00000441339C2CD3chr11

73759250

-MYEOVchr11

69156278

+
intron-intronENST00000542452ENST00000308946C2CD3chr11

73759250

-MYEOVchr11

69156278

+
intron-intronENST00000542452ENST00000535407C2CD3chr11

73759250

-MYEOVchr11

69156278

+
intron-3UTRENST00000542452ENST00000541137C2CD3chr11

73759250

-MYEOVchr11

69156278

+
intron-intronENST00000539061ENST00000441339C2CD3chr11

73759250

-MYEOVchr11

69156278

+
intron-intronENST00000539061ENST00000308946C2CD3chr11

73759250

-MYEOVchr11

69156278

+
intron-intronENST00000539061ENST00000535407C2CD3chr11

73759250

-MYEOVchr11

69156278

+
intron-3UTRENST00000539061ENST00000541137C2CD3chr11

73759250

-MYEOVchr11

69156278

+

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FusionProtFeatures for C2CD3_MYEOV


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C2CD3

Q4AC94

MYEOV

Q96EZ4


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 C2CD3_MYEOV


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 C2CD3_MYEOV


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
C2CD3CEP63, CENPJ, MED4, CEP162, PCM1, SPICE1, CEP128, CEP135, CEP89, CNTRL, OFD1, CDC14A, TRIM25MYEOVPRTFDC1, CNN1


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 C2CD3_MYEOV


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 C2CD3_MYEOV


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneC2CD3C0029294Orofaciodigital Syndromes1CTD_human
HgeneC2CD3C4014780OROFACIODIGITAL SYNDROME XIV1ORPHANET;UNIPROT