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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: 6743

FusionGeneSummary for CELSR1_SEZ6L

check button Fusion gene summary
Fusion gene informationFusion gene name: CELSR1_SEZ6L
Fusion gene ID: 6743
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 date2018051920180329
UniProtAcc

Q9NYQ6

Q9BYH1

Ensembl transtripts involved in fusion geneENST00000262738, ENST00000395964, 
ENST00000497509, 
ENST00000404234, 
ENST00000529632, ENST00000360929, 
ENST00000248933, ENST00000343706, 
ENST00000402979, ENST00000403121, 
ENST00000411842, ENST00000494013, 
Fusion gene scores* DoF score10 X 6 X 8=4804 X 4 X 4=64
# samples 104
** MAII scorelog2(10/480*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/64*10)=-0.678071905112638
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]

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

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
TCGARVLUSCTCGA-46-6025-01ACELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
* 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-shiftENST00000262738ENST00000404234CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
Frame-shiftENST00000262738ENST00000529632CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
Frame-shiftENST00000262738ENST00000360929CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
Frame-shiftENST00000262738ENST00000248933CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
Frame-shiftENST00000262738ENST00000343706CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5CDS-5UTRENST00000262738ENST00000402979CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5CDS-5UTRENST00000262738ENST00000403121CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5CDS-intronENST00000262738ENST00000411842CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5CDS-intronENST00000262738ENST00000494013CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
Frame-shiftENST00000395964ENST00000404234CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
Frame-shiftENST00000395964ENST00000529632CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
Frame-shiftENST00000395964ENST00000360929CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
Frame-shiftENST00000395964ENST00000248933CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
Frame-shiftENST00000395964ENST00000343706CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5CDS-5UTRENST00000395964ENST00000402979CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5CDS-5UTRENST00000395964ENST00000403121CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5CDS-intronENST00000395964ENST00000411842CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5CDS-intronENST00000395964ENST00000494013CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5UTR-3CDSENST00000497509ENST00000404234CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5UTR-3CDSENST00000497509ENST00000529632CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5UTR-3CDSENST00000497509ENST00000360929CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5UTR-3CDSENST00000497509ENST00000248933CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5UTR-3CDSENST00000497509ENST00000343706CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5UTR-5UTRENST00000497509ENST00000402979CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5UTR-5UTRENST00000497509ENST00000403121CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5UTR-intronENST00000497509ENST00000411842CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+
5UTR-intronENST00000497509ENST00000494013CELSR1chr22

46929524

-SEZ6Lchr22

26688372

+

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FusionProtFeatures for CELSR1_SEZ6L


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CELSR1

Q9NYQ6

SEZ6L

Q9BYH1

Receptor that may have an important role in cell/cellsignaling during nervous system formation.

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 CELSR1_SEZ6L


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 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
CELSR1PSAP, RYK, HLA-DRA, NXPH2, CANT1, DDX39A, CHRNA9, LYPD6, XAGE1B, PCDHGB1, DKKL1, SIRT6, PCDH12, SLAMF1, CLU, ZBBX, TRIM25SEZ6L


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

RelatedDrugs for CELSR1_SEZ6L


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 CELSR1_SEZ6L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCELSR1C0036341Schizophrenia1PSYGENET
HgeneCELSR1C0036344Schizophrenia, Catatonic1PSYGENET
HgeneCELSR1C3891448NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO1UNIPROT
TgeneSEZ6LC0005586Bipolar Disorder1PSYGENET