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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:CELSR2-KIAA1324 (FusionGDB2 ID:15703)

Fusion Gene Summary for CELSR2-KIAA1324

check button Fusion gene summary
Fusion gene informationFusion gene name: CELSR2-KIAA1324
Fusion gene ID: 15703
HgeneTgene
Gene symbol

CELSR2

KIAA1324

Gene ID

1952

57535

Gene namecadherin EGF LAG seven-pass G-type receptor 2endosome-lysosome associated apoptosis and autophagy regulator 1
SynonymsADGRC2|CDHF10|EGFL2|Flamingo1|MEGF3EIG121|KIAA1324
Cytomap

1p13.3

1p13.3

Type of geneprotein-codingprotein-coding
Descriptioncadherin EGF LAG seven-pass G-type receptor 2EGF-like protein 2EGF-like-domain, multiple 2adhesion G protein-coupled receptor C2cadherin family member 10cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila)epidermal growth faUPF0577 protein KIAA1324estrogen-induced gene 121 proteinmaba1
Modification date2020031320200320
UniProtAcc

Q9HCU4

.
Ensembl transtripts involved in fusion geneENST00000271332, ENST00000498157, 
ENST00000369939, ENST00000529753, 
ENST00000369938, 
Fusion gene scores* DoF score6 X 8 X 9=4328 X 10 X 7=560
# samples 1313
** MAII scorelog2(13/432*10)=-1.73251968913501
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/560*10)=-2.10691520391651
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CELSR2 [Title/Abstract] AND KIAA1324 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCELSR2(109808828)-KIAA1324(109714487), # samples:2
CELSR2(109816292)-KIAA1324(109704516), # samples:2
CELSR2(109805066)-KIAA1324(109704516), # samples:2
CELSR2(109796011)-KIAA1324(109707121), # samples:2
Anticipated loss of major functional domain due to fusion event.CELSR2-KIAA1324 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
CELSR2-KIAA1324 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target 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 CELSR2 (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 KIAA1324 (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
ChimerDB4COADTCGA-AA-3850CELSR2chr1

109808828

+KIAA1324chr1

109714487

+
ChimerDB4OVTCGA-29-1697CELSR2chr1

109808828

+KIAA1324chr1

109714487

+
ChimerDB4BRCATCGA-A7-A13D-01ACELSR2chr1

109816292

+KIAA1324chr1

109704516

+
ChimerDB4OVTCGA-29-1697-01ACELSR2chr1

109808828

+KIAA1324chr1

109714488

+
ChimerDB4UCECTCGA-AX-A3G4-01ACELSR2chr1

109805066

+KIAA1324chr1

109704516

+
ChimerDB4UCSTCGA-NA-A4QVCELSR2chr1

109796011

+KIAA1324chr1

109707121

+
ChimerDB4BRCATCGA-A7-A13D-01ACELSR2chr1

109816292

-KIAA1324chr1

109704516

+
ChimerDB4UCECTCGA-AX-A3G4-01ACELSR2chr1

109805066

-KIAA1324chr1

109704516

+
ChimerDB4UCSTCGA-NA-A4QV-01ACELSR2chr1

109796011

-KIAA1324chr1

109707121

+


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Fusion Gene ORF analysis for CELSR2-KIAA1324

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-shiftENST00000271332ENST00000369939CELSR2chr1

109808828

+KIAA1324chr1

109714487

+
Frame-shiftENST00000271332ENST00000529753CELSR2chr1

109808828

+KIAA1324chr1

109714487

+
5CDS-intronENST00000271332ENST00000369938CELSR2chr1

109808828

+KIAA1324chr1

109714487

+
intron-3CDSENST00000498157ENST00000369939CELSR2chr1

109808828

+KIAA1324chr1

109714487

+
intron-3CDSENST00000498157ENST00000529753CELSR2chr1

109808828

+KIAA1324chr1

109714487

+
intron-intronENST00000498157ENST00000369938CELSR2chr1

109808828

+KIAA1324chr1

109714487

+
Frame-shiftENST00000271332ENST00000369939CELSR2chr1

109816292

+KIAA1324chr1

109704516

+
Frame-shiftENST00000271332ENST00000529753CELSR2chr1

109816292

+KIAA1324chr1

109704516

+
5CDS-intronENST00000271332ENST00000369938CELSR2chr1

109816292

+KIAA1324chr1

109704516

+
3UTR-3CDSENST00000498157ENST00000369939CELSR2chr1

109816292

+KIAA1324chr1

109704516

+
3UTR-3CDSENST00000498157ENST00000529753CELSR2chr1

109816292

+KIAA1324chr1

109704516

+
3UTR-intronENST00000498157ENST00000369938CELSR2chr1

109816292

+KIAA1324chr1

109704516

+
Frame-shiftENST00000271332ENST00000369939CELSR2chr1

109808828

+KIAA1324chr1

109714488

+
Frame-shiftENST00000271332ENST00000529753CELSR2chr1

109808828

+KIAA1324chr1

109714488

+
5CDS-intronENST00000271332ENST00000369938CELSR2chr1

109808828

+KIAA1324chr1

109714488

+
intron-3CDSENST00000498157ENST00000369939CELSR2chr1

109808828

+KIAA1324chr1

109714488

+
intron-3CDSENST00000498157ENST00000529753CELSR2chr1

109808828

+KIAA1324chr1

109714488

+
intron-intronENST00000498157ENST00000369938CELSR2chr1

109808828

+KIAA1324chr1

109714488

+
Frame-shiftENST00000271332ENST00000369939CELSR2chr1

109805066

+KIAA1324chr1

109704516

+
Frame-shiftENST00000271332ENST00000529753CELSR2chr1

109805066

+KIAA1324chr1

109704516

+
5CDS-intronENST00000271332ENST00000369938CELSR2chr1

109805066

+KIAA1324chr1

109704516

+
intron-3CDSENST00000498157ENST00000369939CELSR2chr1

109805066

+KIAA1324chr1

109704516

+
intron-3CDSENST00000498157ENST00000529753CELSR2chr1

109805066

+KIAA1324chr1

109704516

+
intron-intronENST00000498157ENST00000369938CELSR2chr1

109805066

+KIAA1324chr1

109704516

+
In-frameENST00000271332ENST00000369939CELSR2chr1

109796011

+KIAA1324chr1

109707121

+
In-frameENST00000271332ENST00000529753CELSR2chr1

109796011

+KIAA1324chr1

109707121

+
5CDS-intronENST00000271332ENST00000369938CELSR2chr1

109796011

+KIAA1324chr1

109707121

+
intron-3CDSENST00000498157ENST00000369939CELSR2chr1

109796011

+KIAA1324chr1

109707121

+
intron-3CDSENST00000498157ENST00000529753CELSR2chr1

109796011

+KIAA1324chr1

109707121

+
intron-intronENST00000498157ENST00000369938CELSR2chr1

109796011

+KIAA1324chr1

109707121

+

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 CELSR2-KIAA1324


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)
CELSR2chr1109805066+KIAA1324chr1109704515+0.0020198030.9979802
CELSR2chr1109808828+KIAA1324chr1109714487+0.0001843890.99981564
CELSR2chr1109808828+KIAA1324chr1109714487+0.0001843890.99981564
CELSR2chr1109808828+KIAA1324chr1109714487+0.0001843890.99981564
CELSR2chr1109796011+KIAA1324chr1109707120+6.73E-050.99993265
CELSR2chr1109816292+KIAA1324chr1109704515+3.93E-060.99999607
CELSR2chr1109805066+KIAA1324chr1109704515+0.0020198030.9979802
CELSR2chr1109808828+KIAA1324chr1109714487+0.0001843890.99981564
CELSR2chr1109808828+KIAA1324chr1109714487+0.0001843890.99981564
CELSR2chr1109808828+KIAA1324chr1109714487+0.0001843890.99981564
CELSR2chr1109796011+KIAA1324chr1109707120+6.73E-050.99993265
CELSR2chr1109816292+KIAA1324chr1109704515+3.93E-060.99999607

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 CELSR2-KIAA1324


check button Go to

FGviewer for the breakpoints of chr1:109796011-chr1:109707121

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CELSR2

Q9HCU4

.
FUNCTION: Receptor that may have an important role in cell/cell signaling during nervous system formation.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+134182_2891103.33333333333332924.0DomainCadherin 1
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+134290_3991103.33333333333332924.0DomainCadherin 2
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+134400_5051103.33333333333332924.0DomainCadherin 3
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+134506_6101103.33333333333332924.0DomainCadherin 4
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+134611_7121103.33333333333332924.0DomainCadherin 5
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+134713_8151103.33333333333332924.0DomainCadherin 6
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+134816_9211103.33333333333332924.0DomainCadherin 7
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+134922_10231103.33333333333332924.0DomainCadherin 8
TgeneKIAA1324chr1:109796011chr1:109707121ENST00000369939122656_85891.333333333333331014.0DomainMRH
TgeneKIAA1324chr1:109796011chr1:109707121ENST00000529753120656_85891.33333333333333927.0DomainMRH
TgeneKIAA1324chr1:109796011chr1:109707121ENST00000369939122932_101391.333333333333331014.0Topological domainCytoplasmic
TgeneKIAA1324chr1:109796011chr1:109707121ENST00000529753120932_101391.33333333333333927.0Topological domainCytoplasmic
TgeneKIAA1324chr1:109796011chr1:109707121ENST00000369939122911_93191.333333333333331014.0TransmembraneHelical
TgeneKIAA1324chr1:109796011chr1:109707121ENST00000529753120911_93191.33333333333333927.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+1342743_27521103.33333333333332924.0Compositional biasNote=Poly-Glu
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+1341028_11461103.33333333333332924.0DomainCadherin 9
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+1341228_12861103.33333333333332924.0DomainEGF-like 1%3B calcium-binding
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+1341288_13241103.33333333333332924.0DomainEGF-like 2%3B calcium-binding
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+1341328_13661103.33333333333332924.0DomainEGF-like 3%3B calcium-binding
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+1341367_15711103.33333333333332924.0DomainLaminin G-like 1
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+1341574_16101103.33333333333332924.0DomainEGF-like 4%3B calcium-binding
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+1341614_17911103.33333333333332924.0DomainLaminin G-like 2
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+1341793_18281103.33333333333332924.0DomainEGF-like 5%3B calcium-binding
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+1341829_18671103.33333333333332924.0DomainEGF-like 6%3B calcium-binding
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+1341883_19221103.33333333333332924.0DomainEGF-like 7%3B calcium-binding
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+1341924_19711103.33333333333332924.0DomainLaminin EGF-like
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+1342316_23681103.33333333333332924.0DomainGPS
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+1342402_24161103.33333333333332924.0Topological domainCytoplasmic
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+1342438_24381103.33333333333332924.0Topological domainExtracellular
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+1342460_24801103.33333333333332924.0Topological domainCytoplasmic
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+1342502_25191103.33333333333332924.0Topological domainExtracellular
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+1342541_25601103.33333333333332924.0Topological domainCytoplasmic
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+1342582_25911103.33333333333332924.0Topological domainExtracellular
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+1342613_29231103.33333333333332924.0Topological domainCytoplasmic
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+13432_23801103.33333333333332924.0Topological domainExtracellular
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+1342381_24011103.33333333333332924.0TransmembraneHelical%3B Name%3D1
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+1342417_24371103.33333333333332924.0TransmembraneHelical%3B Name%3D2
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+1342439_24591103.33333333333332924.0TransmembraneHelical%3B Name%3D3
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+1342481_25011103.33333333333332924.0TransmembraneHelical%3B Name%3D4
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+1342520_25401103.33333333333332924.0TransmembraneHelical%3B Name%3D5
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+1342561_25811103.33333333333332924.0TransmembraneHelical%3B Name%3D6
HgeneCELSR2chr1:109796011chr1:109707121ENST00000271332+1342592_26121103.33333333333332924.0TransmembraneHelical%3B Name%3D7
TgeneKIAA1324chr1:109796011chr1:109707121ENST0000036993912242_91091.333333333333331014.0Topological domainExtracellular
TgeneKIAA1324chr1:109796011chr1:109707121ENST0000052975312042_91091.33333333333333927.0Topological domainExtracellular


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Fusion Gene Sequence for CELSR2-KIAA1324


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 CELSR2-KIAA1324


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 CELSR2-KIAA1324


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 CELSR2-KIAA1324


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCELSR2C0014173Endometrial Hyperplasia1CTD_human
HgeneCELSR2C0349578Complex Endometrial Hyperplasia1CTD_human
HgeneCELSR2C0349579Atypical Endometrial Hyperplasia1CTD_human
HgeneCELSR2C0456483Simple Endometrial Hyperplasia1CTD_human