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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:C2CD3-NCAM1 (FusionGDB2 ID:HG26005TG4684) |
Fusion Gene Summary for C2CD3-NCAM1 |
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Fusion gene information | Fusion gene name: C2CD3-NCAM1 | Fusion gene ID: hg26005tg4684 | Hgene | Tgene | Gene symbol | C2CD3 | NCAM1 | Gene ID | 26005 | 4684 |
Gene name | C2 domain containing 3 centriole elongation regulator | neural cell adhesion molecule 1 | |
Synonyms | OFD14 | CD56|MSK39|NCAM | |
Cytomap | ('C2CD3')('NCAM1') 11q13.4 | 11q23.2 | |
Type of gene | protein-coding | protein-coding | |
Description | C2 domain-containing protein 3C2 calcium dependent domain containing 3 | neural cell adhesion molecule 1antigen recognized by monoclonal antibody 5.1H11neural cell adhesion molecule, NCAM | |
Modification date | 20200329 | 20200313 | |
UniProtAcc | Q4AC94 | . | |
Ensembl transtripts involved in fusion gene | ENST00000334126, ENST00000542452, ENST00000313663, ENST00000539061, | ||
Fusion gene scores | * DoF score | 15 X 15 X 9=2025 | 11 X 12 X 4=528 |
# samples | 18 | 12 | |
** MAII score | log2(18/2025*10)=-3.49185309632968 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/528*10)=-2.13750352374993 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: C2CD3 [Title/Abstract] AND NCAM1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | C2CD3(73739332)-NCAM1(113073101), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* 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 |
Hgene | C2CD3 | GO:0061511 | centriole elongation | 24997988 |
Hgene | C2CD3 | GO:0071539 | protein localization to centrosome | 24997988 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | LUAD | TCGA-67-3774-01A | C2CD3 | chr11 | 73739332 | - | NCAM1 | chr11 | 113073101 | + |
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Fusion Gene ORF analysis for C2CD3-NCAM1 |
![]() * 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 |
5CDS-3UTR | ENST00000334126 | ENST00000316851 | C2CD3 | chr11 | 73739332 | - | NCAM1 | chr11 | 113073101 | + |
5CDS-3UTR | ENST00000334126 | ENST00000397957 | C2CD3 | chr11 | 73739332 | - | NCAM1 | chr11 | 113073101 | + |
5CDS-3UTR | ENST00000334126 | ENST00000401611 | C2CD3 | chr11 | 73739332 | - | NCAM1 | chr11 | 113073101 | + |
5CDS-5UTR | ENST00000334126 | ENST00000533760 | C2CD3 | chr11 | 73739332 | - | NCAM1 | chr11 | 113073101 | + |
5UTR-3UTR | ENST00000542452 | ENST00000316851 | C2CD3 | chr11 | 73739332 | - | NCAM1 | chr11 | 113073101 | + |
5UTR-3UTR | ENST00000542452 | ENST00000397957 | C2CD3 | chr11 | 73739332 | - | NCAM1 | chr11 | 113073101 | + |
5UTR-3UTR | ENST00000542452 | ENST00000401611 | C2CD3 | chr11 | 73739332 | - | NCAM1 | chr11 | 113073101 | + |
5UTR-5UTR | ENST00000542452 | ENST00000533760 | C2CD3 | chr11 | 73739332 | - | NCAM1 | chr11 | 113073101 | + |
intron-3UTR | ENST00000313663 | ENST00000316851 | C2CD3 | chr11 | 73739332 | - | NCAM1 | chr11 | 113073101 | + |
intron-3UTR | ENST00000313663 | ENST00000397957 | C2CD3 | chr11 | 73739332 | - | NCAM1 | chr11 | 113073101 | + |
intron-3UTR | ENST00000313663 | ENST00000401611 | C2CD3 | chr11 | 73739332 | - | NCAM1 | chr11 | 113073101 | + |
intron-3UTR | ENST00000539061 | ENST00000316851 | C2CD3 | chr11 | 73739332 | - | NCAM1 | chr11 | 113073101 | + |
intron-3UTR | ENST00000539061 | ENST00000397957 | C2CD3 | chr11 | 73739332 | - | NCAM1 | chr11 | 113073101 | + |
intron-3UTR | ENST00000539061 | ENST00000401611 | C2CD3 | chr11 | 73739332 | - | NCAM1 | chr11 | 113073101 | + |
intron-5UTR | ENST00000313663 | ENST00000533760 | C2CD3 | chr11 | 73739332 | - | NCAM1 | chr11 | 113073101 | + |
intron-5UTR | ENST00000539061 | ENST00000533760 | C2CD3 | chr11 | 73739332 | - | NCAM1 | chr11 | 113073101 | + |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for C2CD3-NCAM1 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
C2CD3 | chr11 | 73739331 | - | NCAM1 | chr11 | 113073100 | + | 1.43E-06 | 0.99999857 |
C2CD3 | chr11 | 73739331 | - | NCAM1 | chr11 | 113073100 | + | 1.43E-06 | 0.99999857 |
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Fusion Protein Features for C2CD3-NCAM1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:73739332/:113073101) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
C2CD3 | . |
FUNCTION: Component of the centrioles that acts as a positive regulator of centriole elongation (PubMed:24997988). Promotes assembly of centriolar distal appendage, a structure at the distal end of the mother centriole that acts as an anchor of the cilium, and is required for recruitment of centriolar distal appendages proteins CEP83, SCLT1, CEP89, FBF1 and CEP164. Not required for centriolar satellite integrity or RAB8 activation. Required for primary cilium formation (PubMed:23769972). Required for sonic hedgehog/SHH signaling and for proteolytic processing of GLI3. {ECO:0000269|PubMed:23769972, ECO:0000269|PubMed:24997988}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
![]() * 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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Fusion Gene Sequence for C2CD3-NCAM1 |
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Fusion Gene PPI Analysis for C2CD3-NCAM1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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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Related Drugs for C2CD3-NCAM1 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for C2CD3-NCAM1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | C2CD3 | C0036069 | Saldino-Noonan Syndrome | 3 | GENOMICS_ENGLAND |
Hgene | C2CD3 | C1510460 | Orofaciodigital Syndrome I | 3 | CTD_human;GENOMICS_ENGLAND |
Hgene | C2CD3 | C4014780 | OROFACIODIGITAL SYNDROME XIV | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | C2CD3 | C0026363 | Mohr Syndrome | 1 | CTD_human |
Hgene | C2CD3 | C0029294 | Orofaciodigital Syndromes | 1 | CTD_human |
Hgene | C2CD3 | C0238198 | Gastrointestinal Stromal Tumors | 1 | CTD_human |
Hgene | C2CD3 | C3179349 | Gastrointestinal Stromal Sarcoma | 1 | CTD_human |
Tgene | C0005586 | Bipolar Disorder | 5 | PSYGENET | |
Tgene | C0001973 | Alcoholic Intoxication, Chronic | 4 | PSYGENET | |
Tgene | C0011570 | Mental Depression | 4 | PSYGENET | |
Tgene | C0011581 | Depressive disorder | 4 | PSYGENET | |
Tgene | C0036341 | Schizophrenia | 3 | PSYGENET | |
Tgene | C0525045 | Mood Disorders | 2 | PSYGENET | |
Tgene | C0000786 | Spontaneous abortion | 1 | CTD_human | |
Tgene | C0000822 | Abortion, Tubal | 1 | CTD_human | |
Tgene | C0005587 | Depression, Bipolar | 1 | PSYGENET | |
Tgene | C0024809 | Marijuana Abuse | 1 | PSYGENET | |
Tgene | C0027626 | Neoplasm Invasiveness | 1 | CTD_human | |
Tgene | C0041696 | Unipolar Depression | 1 | PSYGENET | |
Tgene | C1269683 | Major Depressive Disorder | 1 | PSYGENET | |
Tgene | C3830362 | Early Pregnancy Loss | 1 | CTD_human | |
Tgene | C4552766 | Miscarriage | 1 | CTD_human |