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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:CCDC136-CTNNBL1 (FusionGDB2 ID:13631)

Fusion Gene Summary for CCDC136-CTNNBL1

check button Fusion gene summary
Fusion gene informationFusion gene name: CCDC136-CTNNBL1
Fusion gene ID: 13631
HgeneTgene
Gene symbol

CCDC136

CTNNBL1

Gene ID

64753

56259

Gene namecoiled-coil domain containing 136catenin beta like 1
SynonymsNAG6C20orf33|NAP|P14L|PP8304|dJ633O20.1
Cytomap

7q32.1

20q11.23

Type of geneprotein-codingprotein-coding
Descriptioncoiled-coil domain-containing protein 136nasopharyngeal carcinoma-associated gene 6 proteinbeta-catenin-like protein 1nuclear associated proteintestis development protein NYD-SP19
Modification date2020031320200327
UniProtAcc

Q96JN2

Q8WYA6

Ensembl transtripts involved in fusion geneENST00000297788, ENST00000378685, 
ENST00000464832, ENST00000487361, 
ENST00000471729, 		ENST00000373469, 
ENST00000373473, ENST00000473857, 
ENST00000361383, ENST00000405275, 
Fusion gene scores* DoF score1 X 1 X 1=19 X 10 X 8=720
# samples 112
** MAII scorelog2(1/1*10)=3.32192809488736log2(12/720*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CCDC136 [Title/Abstract] AND CTNNBL1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCCDC136(128434456)-CTNNBL1(36365778), # samples:1
Anticipated loss of major functional domain due to fusion event.CCDC136-CTNNBL1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
CCDC136-CTNNBL1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
CCDC136-CTNNBL1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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
TgeneCTNNBL1

GO:0043065

positive regulation of apoptotic process

12659813


check buttonFusion gene breakpoints across CCDC136 (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 CTNNBL1 (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/ABF939702CCDC136chr7

128434456

+CTNNBL1chr20

36365778

+


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Fusion Gene ORF analysis for CCDC136-CTNNBL1

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-intronENST00000297788ENST00000373469CCDC136chr7

128434456

+CTNNBL1chr20

36365778

+
5CDS-intronENST00000297788ENST00000373473CCDC136chr7

128434456

+CTNNBL1chr20

36365778

+
5CDS-intronENST00000297788ENST00000473857CCDC136chr7

128434456

+CTNNBL1chr20

36365778

+
5CDS-intronENST00000378685ENST00000373469CCDC136chr7

128434456

+CTNNBL1chr20

36365778

+
5CDS-intronENST00000378685ENST00000373473CCDC136chr7

128434456

+CTNNBL1chr20

36365778

+
5CDS-intronENST00000378685ENST00000473857CCDC136chr7

128434456

+CTNNBL1chr20

36365778

+
5CDS-intronENST00000464832ENST00000373469CCDC136chr7

128434456

+CTNNBL1chr20

36365778

+
5CDS-intronENST00000464832ENST00000373473CCDC136chr7

128434456

+CTNNBL1chr20

36365778

+
5CDS-intronENST00000464832ENST00000473857CCDC136chr7

128434456

+CTNNBL1chr20

36365778

+
5CDS-intronENST00000487361ENST00000373469CCDC136chr7

128434456

+CTNNBL1chr20

36365778

+
5CDS-intronENST00000487361ENST00000373473CCDC136chr7

128434456

+CTNNBL1chr20

36365778

+
5CDS-intronENST00000487361ENST00000473857CCDC136chr7

128434456

+CTNNBL1chr20

36365778

+
Frame-shiftENST00000297788ENST00000361383CCDC136chr7

128434456

+CTNNBL1chr20

36365778

+
Frame-shiftENST00000297788ENST00000405275CCDC136chr7

128434456

+CTNNBL1chr20

36365778

+
Frame-shiftENST00000378685ENST00000361383CCDC136chr7

128434456

+CTNNBL1chr20

36365778

+
Frame-shiftENST00000378685ENST00000405275CCDC136chr7

128434456

+CTNNBL1chr20

36365778

+
Frame-shiftENST00000464832ENST00000361383CCDC136chr7

128434456

+CTNNBL1chr20

36365778

+
Frame-shiftENST00000464832ENST00000405275CCDC136chr7

128434456

+CTNNBL1chr20

36365778

+
Frame-shiftENST00000487361ENST00000361383CCDC136chr7

128434456

+CTNNBL1chr20

36365778

+
Frame-shiftENST00000487361ENST00000405275CCDC136chr7

128434456

+CTNNBL1chr20

36365778

+
intron-3CDSENST00000471729ENST00000361383CCDC136chr7

128434456

+CTNNBL1chr20

36365778

+
intron-3CDSENST00000471729ENST00000405275CCDC136chr7

128434456

+CTNNBL1chr20

36365778

+
intron-intronENST00000471729ENST00000373469CCDC136chr7

128434456

+CTNNBL1chr20

36365778

+
intron-intronENST00000471729ENST00000373473CCDC136chr7

128434456

+CTNNBL1chr20

36365778

+
intron-intronENST00000471729ENST00000473857CCDC136chr7

128434456

+CTNNBL1chr20

36365778

+

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

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Fusion Genomic Features for CCDC136-CTNNBL1


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.

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Fusion Protein Features for CCDC136-CTNNBL1


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/:128434456/:36365778)
- 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
CCDC136

Q96JN2

CTNNBL1

Q8WYA6

FUNCTION: May play a role in acrosome formation in spermatogenesis and in fertilization. {ECO:0000250|UniProtKB:Q3TVA9}.FUNCTION: Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. Participates in AID/AICDA-mediated Ig class switching recombination (CSR). May induce apoptosis.

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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Fusion Gene Sequence for CCDC136-CTNNBL1


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.

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Fusion Gene PPI Analysis for CCDC136-CTNNBL1


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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Related Drugs for CCDC136-CTNNBL1


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

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Related Diseases for CCDC136-CTNNBL1


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