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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: 4941

FusionGeneSummary for C2CD5_CMAS

check button Fusion gene summary
Fusion gene informationFusion gene name: C2CD5_CMAS
Fusion gene ID: 4941
HgeneTgene
Gene symbol

C2CD5

CMAS

Gene ID

9847

55907

Gene nameC2 calcium dependent domain containing 5cytidine monophosphate N-acetylneuraminic acid synthetase
SynonymsCDP138|KIAA0528CSS
Cytomap

12p12.1

12p12.1

Type of geneprotein-codingprotein-coding
DescriptionC2 domain-containing protein 5138 kDa C2 domain-containing phosphoproteinN-acylneuraminate cytidylyltransferaseCMP-N-acetylneuraminic acid synthaseCMP-N-acetylneuraminic acid synthetaseCMP-Neu5Ac synthetaseCMP-NeuNAc synthaseCMP-NeuNAc synthetaseCMP-sialic acid synthetasecytidine 5'-monophosphate N-acetylneuraminic acid
Modification date2018051920180523
UniProtAcc

Q86YS7

Q8NFW8

Ensembl transtripts involved in fusion geneENST00000333957, ENST00000446597, 
ENST00000536386, ENST00000396028, 
ENST00000542676, ENST00000544930, 
ENST00000545552, ENST00000540703, 
ENST00000229329, 
Fusion gene scores* DoF score6 X 6 X 5=1807 X 5 X 4=140
# samples 67
** MAII scorelog2(6/180*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/140*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C2CD5 [Title/Abstract] AND CMAS [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
HgeneC2CD5

GO:0032869

cellular response to insulin stimulus

21907143


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
TCGALDLUSCTCGA-NC-A5HK-01AC2CD5chr12

22696995

-CMASchr12

22208083

+
* 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
Frame-shiftENST00000333957ENST00000229329C2CD5chr12

22696995

-CMASchr12

22208083

+
Frame-shiftENST00000446597ENST00000229329C2CD5chr12

22696995

-CMASchr12

22208083

+
Frame-shiftENST00000536386ENST00000229329C2CD5chr12

22696995

-CMASchr12

22208083

+
Frame-shiftENST00000396028ENST00000229329C2CD5chr12

22696995

-CMASchr12

22208083

+
Frame-shiftENST00000542676ENST00000229329C2CD5chr12

22696995

-CMASchr12

22208083

+
5UTR-3CDSENST00000544930ENST00000229329C2CD5chr12

22696995

-CMASchr12

22208083

+
Frame-shiftENST00000545552ENST00000229329C2CD5chr12

22696995

-CMASchr12

22208083

+
intron-3CDSENST00000540703ENST00000229329C2CD5chr12

22696995

-CMASchr12

22208083

+

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FusionProtFeatures for C2CD5_CMAS


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C2CD5

Q86YS7

CMAS

Q8NFW8

Catalyzes the activation of N-acetylneuraminic acid(NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid(CMP-NeuNAc), a substrate required for the addition of sialicacid. Has some activity toward NeuNAc, N-glycolylneuraminic acid(Neu5Gc) or 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN).

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 C2CD5_CMAS


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 C2CD5_CMAS


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
C2CD5FIBP, ELAVL1, ESRRA, CDK5, PPP6R1, CDK2, LGALS9, LYPD3, DLK1, WDFY2, PTGER3, NTRK1, HNRNPD, RAB5C, RXRB, SORT1, RBM8A, SYNCRIP, ITGB3BP, RACGAP1, SGTB, SASS6, QSOX2, BAG6, LZTS2, NAGK, CCDC102BCMASAPP, FBXO6, BRCA1, FGL1, LIMS1, LUC7L, DBNL, COG3, FIG4, NAA10, DDB1, NAA15, HIST1H2BG, HIST1H3A, RC3H1, CHCHD10, FAM98A


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 C2CD5_CMAS


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 C2CD5_CMAS


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