FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:CCM2-CEP250 (FusionGDB2 ID:14060)

Fusion Gene Summary for CCM2-CEP250

check button Fusion gene summary
Fusion gene informationFusion gene name: CCM2-CEP250
Fusion gene ID: 14060
HgeneTgene
Gene symbol

CCM2

CEP250

Gene ID

83605

11190

Gene nameCCM2 scaffold proteincentrosomal protein 250
SynonymsC7orf22|OSM|PP10187C-NAP1|CEP2|CNAP1|CRDHL2
Cytomap

7p13

20q11.22

Type of geneprotein-codingprotein-coding
Descriptioncerebral cavernous malformations 2 proteinCCM2 scaffolding proteincerebral cavernous malformation 2malcaverninosmosensing scaffold for MEKK3centrosome-associated protein CEP250250 kDa centrosomal proteincentrosomal Nek2-associated protein 1
Modification date2020031320200313
UniProtAcc

Q9BSQ5

Q9BV73

Ensembl transtripts involved in fusion geneENST00000258781, ENST00000381112, 
ENST00000461377, ENST00000474617, 
ENST00000475551, ENST00000541586, 
ENST00000544363, 		ENST00000342580, 
ENST00000397524, ENST00000397527, 
ENST00000476146, 
Fusion gene scores* DoF score9 X 5 X 6=2708 X 9 X 6=432
# samples 129
** MAII scorelog2(12/270*10)=-1.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/432*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CCM2 [Title/Abstract] AND CEP250 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCCM2(45079986)-CEP250(34008810), # 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneCEP250

GO:0000278

mitotic cell cycle

12140259

TgeneCEP250

GO:0030997

regulation of centriole-centriole cohesion

9647649


check buttonFusion gene breakpoints across CCM2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across CEP250 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/AEI785532CCM2chr7

45079986

+CEP250chr20

34008810

+


Top

Fusion Gene ORF analysis for CCM2-CEP250

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-intronENST00000258781ENST00000342580CCM2chr7

45079986

+CEP250chr20

34008810

+
intron-intronENST00000258781ENST00000397524CCM2chr7

45079986

+CEP250chr20

34008810

+
intron-intronENST00000258781ENST00000397527CCM2chr7

45079986

+CEP250chr20

34008810

+
intron-intronENST00000258781ENST00000476146CCM2chr7

45079986

+CEP250chr20

34008810

+
intron-intronENST00000381112ENST00000342580CCM2chr7

45079986

+CEP250chr20

34008810

+
intron-intronENST00000381112ENST00000397524CCM2chr7

45079986

+CEP250chr20

34008810

+
intron-intronENST00000381112ENST00000397527CCM2chr7

45079986

+CEP250chr20

34008810

+
intron-intronENST00000381112ENST00000476146CCM2chr7

45079986

+CEP250chr20

34008810

+
intron-intronENST00000461377ENST00000342580CCM2chr7

45079986

+CEP250chr20

34008810

+
intron-intronENST00000461377ENST00000397524CCM2chr7

45079986

+CEP250chr20

34008810

+
intron-intronENST00000461377ENST00000397527CCM2chr7

45079986

+CEP250chr20

34008810

+
intron-intronENST00000461377ENST00000476146CCM2chr7

45079986

+CEP250chr20

34008810

+
intron-intronENST00000474617ENST00000342580CCM2chr7

45079986

+CEP250chr20

34008810

+
intron-intronENST00000474617ENST00000397524CCM2chr7

45079986

+CEP250chr20

34008810

+
intron-intronENST00000474617ENST00000397527CCM2chr7

45079986

+CEP250chr20

34008810

+
intron-intronENST00000474617ENST00000476146CCM2chr7

45079986

+CEP250chr20

34008810

+
intron-intronENST00000475551ENST00000342580CCM2chr7

45079986

+CEP250chr20

34008810

+
intron-intronENST00000475551ENST00000397524CCM2chr7

45079986

+CEP250chr20

34008810

+
intron-intronENST00000475551ENST00000397527CCM2chr7

45079986

+CEP250chr20

34008810

+
intron-intronENST00000475551ENST00000476146CCM2chr7

45079986

+CEP250chr20

34008810

+
intron-intronENST00000541586ENST00000342580CCM2chr7

45079986

+CEP250chr20

34008810

+
intron-intronENST00000541586ENST00000397524CCM2chr7

45079986

+CEP250chr20

34008810

+
intron-intronENST00000541586ENST00000397527CCM2chr7

45079986

+CEP250chr20

34008810

+
intron-intronENST00000541586ENST00000476146CCM2chr7

45079986

+CEP250chr20

34008810

+
intron-intronENST00000544363ENST00000342580CCM2chr7

45079986

+CEP250chr20

34008810

+
intron-intronENST00000544363ENST00000397524CCM2chr7

45079986

+CEP250chr20

34008810

+
intron-intronENST00000544363ENST00000397527CCM2chr7

45079986

+CEP250chr20

34008810

+
intron-intronENST00000544363ENST00000476146CCM2chr7

45079986

+CEP250chr20

34008810

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

Top

Fusion Genomic Features for CCM2-CEP250


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

Top

Fusion Protein Features for CCM2-CEP250


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:45079986/:34008810)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CCM2

Q9BSQ5

CEP250

Q9BV73

FUNCTION: Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity. May act through the stabilization of endothelial cell junctions (By similarity). May function as a scaffold protein for MAP2K3-MAP3K3 signaling. Seems to play a major role in the modulation of MAP3K3-dependent p38 activation induced by hyperosmotic shock (By similarity). {ECO:0000250}.FUNCTION: May be involved in ciliogenesis (PubMed:28005958). Probably plays an important role in centrosome cohesion during interphase. {ECO:0000269|PubMed:28005958}.

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


Top

Fusion Gene Sequence for CCM2-CEP250


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

Top

Fusion Gene PPI Analysis for CCM2-CEP250


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


Top

Related Drugs for CCM2-CEP250


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for CCM2-CEP250


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