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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:CELSR1-SEZ6L (FusionGDB2 ID:15659)

Fusion Gene Summary for CELSR1-SEZ6L

check button Fusion gene summary
Fusion gene informationFusion gene name: CELSR1-SEZ6L
Fusion gene ID: 15659
HgeneTgene
Gene symbol

CELSR1

SEZ6L

Gene ID

9620

23544

Gene namecadherin EGF LAG seven-pass G-type receptor 1seizure related 6 homolog like
SynonymsADGRC1|CDHF9|FMI2|HFMI2|ME2-
Cytomap

22q13.31

22q12.1

Type of geneprotein-codingprotein-coding
Descriptioncadherin EGF LAG seven-pass G-type receptor 1adhesion G protein-coupled receptor C1cadherin family member 9cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila)flamingo homolog 2protocadherin flamingo 2seizure 6-like proteinseizure related gene 6-like
Modification date2020032220200313
UniProtAcc

Q9NYQ6

.
Ensembl transtripts involved in fusion geneENST00000262738, ENST00000395964, 
ENST00000497509, 		ENST00000402979, 
ENST00000403121, ENST00000411842, 
ENST00000494013, ENST00000248933, 
ENST00000343706, ENST00000360929, 
ENST00000404234, ENST00000529632, 
Fusion gene scores* DoF score23 X 19 X 11=48078 X 9 X 5=360
# samples 288
** MAII scorelog2(28/4807*10)=-4.10163807119293
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/360*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CELSR1 [Title/Abstract] AND SEZ6L [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCELSR1(46929524)-SEZ6L(26688372), # samples:3
Anticipated loss of major functional domain due to fusion event.CELSR1-SEZ6L seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
CELSR1-SEZ6L seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
CELSR1-SEZ6L 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

check buttonFusion gene breakpoints across CELSR1 (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 SEZ6L (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
ChimerDB4LUSCTCGA-46-6025-01ACELSR1chr22

46929523

-SEZ6Lchr22

26688371

+
ChimerDB4LUSCTCGA-46-6025-01ACELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
ChimerDB4LUSCTCGA-46-6025CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+


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Fusion Gene ORF analysis for CELSR1-SEZ6L

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-5UTRENST00000262738ENST00000402979CELSR1chr22

46929523

-SEZ6Lchr22

26688371

+
5CDS-5UTRENST00000262738ENST00000402979CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5CDS-5UTRENST00000262738ENST00000403121CELSR1chr22

46929523

-SEZ6Lchr22

26688371

+
5CDS-5UTRENST00000262738ENST00000403121CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5CDS-5UTRENST00000395964ENST00000402979CELSR1chr22

46929523

-SEZ6Lchr22

26688371

+
5CDS-5UTRENST00000395964ENST00000402979CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5CDS-5UTRENST00000395964ENST00000403121CELSR1chr22

46929523

-SEZ6Lchr22

26688371

+
5CDS-5UTRENST00000395964ENST00000403121CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5CDS-intronENST00000262738ENST00000411842CELSR1chr22

46929523

-SEZ6Lchr22

26688371

+
5CDS-intronENST00000262738ENST00000411842CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5CDS-intronENST00000262738ENST00000494013CELSR1chr22

46929523

-SEZ6Lchr22

26688371

+
5CDS-intronENST00000262738ENST00000494013CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5CDS-intronENST00000395964ENST00000411842CELSR1chr22

46929523

-SEZ6Lchr22

26688371

+
5CDS-intronENST00000395964ENST00000411842CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5CDS-intronENST00000395964ENST00000494013CELSR1chr22

46929523

-SEZ6Lchr22

26688371

+
5CDS-intronENST00000395964ENST00000494013CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5UTR-3CDSENST00000497509ENST00000248933CELSR1chr22

46929523

-SEZ6Lchr22

26688371

+
5UTR-3CDSENST00000497509ENST00000248933CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5UTR-3CDSENST00000497509ENST00000343706CELSR1chr22

46929523

-SEZ6Lchr22

26688371

+
5UTR-3CDSENST00000497509ENST00000343706CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5UTR-3CDSENST00000497509ENST00000360929CELSR1chr22

46929523

-SEZ6Lchr22

26688371

+
5UTR-3CDSENST00000497509ENST00000360929CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5UTR-3CDSENST00000497509ENST00000404234CELSR1chr22

46929523

-SEZ6Lchr22

26688371

+
5UTR-3CDSENST00000497509ENST00000404234CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5UTR-3CDSENST00000497509ENST00000529632CELSR1chr22

46929523

-SEZ6Lchr22

26688371

+
5UTR-3CDSENST00000497509ENST00000529632CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5UTR-5UTRENST00000497509ENST00000402979CELSR1chr22

46929523

-SEZ6Lchr22

26688371

+
5UTR-5UTRENST00000497509ENST00000402979CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5UTR-5UTRENST00000497509ENST00000403121CELSR1chr22

46929523

-SEZ6Lchr22

26688371

+
5UTR-5UTRENST00000497509ENST00000403121CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5UTR-intronENST00000497509ENST00000411842CELSR1chr22

46929523

-SEZ6Lchr22

26688371

+
5UTR-intronENST00000497509ENST00000411842CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5UTR-intronENST00000497509ENST00000494013CELSR1chr22

46929523

-SEZ6Lchr22

26688371

+
5UTR-intronENST00000497509ENST00000494013CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
Frame-shiftENST00000262738ENST00000248933CELSR1chr22

46929523

-SEZ6Lchr22

26688371

+
Frame-shiftENST00000262738ENST00000248933CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
Frame-shiftENST00000262738ENST00000343706CELSR1chr22

46929523

-SEZ6Lchr22

26688371

+
Frame-shiftENST00000262738ENST00000343706CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
Frame-shiftENST00000262738ENST00000360929CELSR1chr22

46929523

-SEZ6Lchr22

26688371

+
Frame-shiftENST00000262738ENST00000360929CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
Frame-shiftENST00000262738ENST00000404234CELSR1chr22

46929523

-SEZ6Lchr22

26688371

+
Frame-shiftENST00000262738ENST00000404234CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
Frame-shiftENST00000262738ENST00000529632CELSR1chr22

46929523

-SEZ6Lchr22

26688371

+
Frame-shiftENST00000262738ENST00000529632CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
Frame-shiftENST00000395964ENST00000248933CELSR1chr22

46929523

-SEZ6Lchr22

26688371

+
Frame-shiftENST00000395964ENST00000248933CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
Frame-shiftENST00000395964ENST00000343706CELSR1chr22

46929523

-SEZ6Lchr22

26688371

+
Frame-shiftENST00000395964ENST00000343706CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
Frame-shiftENST00000395964ENST00000360929CELSR1chr22

46929523

-SEZ6Lchr22

26688371

+
Frame-shiftENST00000395964ENST00000360929CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
Frame-shiftENST00000395964ENST00000404234CELSR1chr22

46929523

-SEZ6Lchr22

26688371

+
Frame-shiftENST00000395964ENST00000404234CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
Frame-shiftENST00000395964ENST00000529632CELSR1chr22

46929523

-SEZ6Lchr22

26688371

+
Frame-shiftENST00000395964ENST00000529632CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+

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 CELSR1-SEZ6L


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)
CELSR1chr2246929523-SEZ6Lchr2226688371+6.51E-070.9999994
CELSR1chr2246929523-SEZ6Lchr2226688371+6.51E-070.9999994
CELSR1chr2246929523-SEZ6Lchr2226688371+6.51E-070.9999994
CELSR1chr2246929523-SEZ6Lchr2226688371+6.51E-070.9999994

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.
genomic feature of top 1%

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Fusion Protein Features for CELSR1-SEZ6L


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/:46929524/:26688372)
- 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
CELSR1

Q9NYQ6

.
FUNCTION: Receptor that may have an important role in cell/cell signaling during nervous system formation.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}.

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 CELSR1-SEZ6L


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 CELSR1-SEZ6L


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 CELSR1-SEZ6L


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 CELSR1-SEZ6L


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