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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:CDH2-KIAA1328 (FusionGDB2 ID:HG1000TG57536)

Fusion Gene Summary for CDH2-KIAA1328

check button Fusion gene summary
Fusion gene informationFusion gene name: CDH2-KIAA1328
Fusion gene ID: hg1000tg57536
HgeneTgene
Gene symbol

CDH2

KIAA1328

Gene ID

1000

57536

Gene namecadherin 2KIAA1328
SynonymsCD325|CDHN|CDw325|NCAD-
Cytomap('CDH2')('KIAA1328')

18q12.1

18q12.2

Type of geneprotein-codingprotein-coding
Descriptioncadherin-2N-cadherin 1cadherin 2, type 1, N-cadherin (neuronal)calcium-dependent adhesion protein, neuronalneural cadherinprotein hinderinhinderin
Modification date2020031320200313
UniProtAcc.

Q86T90

Ensembl transtripts involved in fusion geneENST00000269141, ENST00000399380, 
Fusion gene scores* DoF score6 X 6 X 4=1446 X 7 X 3=126
# samples 87
** MAII scorelog2(8/144*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/126*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CDH2 [Title/Abstract] AND KIAA1328 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCDH2(25727636)-KIAA1328(34646852), # samples:2
CDH2(25727637)-KIAA1328(34646853), # samples:2
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


check button Fusion gene information
* 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
ChimerDB4BRCATCGA-AC-A2QH-01BCDH2chr18

25727637

-KIAA1328chr18

34646853

+
ChimerDB4BRCATCGA-AC-A2QHCDH2chr18

25727636

-KIAA1328chr18

34646852

+


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Fusion Gene ORF analysis for CDH2-KIAA1328

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-5UTRENST00000269141ENST00000280020CDH2chr18

25727637

-KIAA1328chr18

34646853

+
5CDS-5UTRENST00000269141ENST00000280020CDH2chr18

25727636

-KIAA1328chr18

34646852

+
5CDS-5UTRENST00000269141ENST00000435985CDH2chr18

25727637

-KIAA1328chr18

34646853

+
5CDS-5UTRENST00000269141ENST00000435985CDH2chr18

25727636

-KIAA1328chr18

34646852

+
5CDS-5UTRENST00000269141ENST00000586135CDH2chr18

25727637

-KIAA1328chr18

34646853

+
5CDS-5UTRENST00000269141ENST00000586135CDH2chr18

25727636

-KIAA1328chr18

34646852

+
5CDS-5UTRENST00000269141ENST00000586501CDH2chr18

25727637

-KIAA1328chr18

34646853

+
5CDS-5UTRENST00000269141ENST00000586501CDH2chr18

25727636

-KIAA1328chr18

34646852

+
5CDS-5UTRENST00000269141ENST00000591619CDH2chr18

25727637

-KIAA1328chr18

34646853

+
5CDS-5UTRENST00000269141ENST00000591619CDH2chr18

25727636

-KIAA1328chr18

34646852

+
5CDS-intronENST00000269141ENST00000592521CDH2chr18

25727637

-KIAA1328chr18

34646853

+
5CDS-intronENST00000269141ENST00000592521CDH2chr18

25727636

-KIAA1328chr18

34646852

+
5CDS-intronENST00000269141ENST00000601437CDH2chr18

25727637

-KIAA1328chr18

34646853

+
5CDS-intronENST00000269141ENST00000601437CDH2chr18

25727636

-KIAA1328chr18

34646852

+
Frame-shiftENST00000269141ENST00000543923CDH2chr18

25727637

-KIAA1328chr18

34646853

+
Frame-shiftENST00000269141ENST00000543923CDH2chr18

25727636

-KIAA1328chr18

34646852

+
intron-3CDSENST00000399380ENST00000543923CDH2chr18

25727637

-KIAA1328chr18

34646853

+
intron-3CDSENST00000399380ENST00000543923CDH2chr18

25727636

-KIAA1328chr18

34646852

+
intron-5UTRENST00000399380ENST00000280020CDH2chr18

25727637

-KIAA1328chr18

34646853

+
intron-5UTRENST00000399380ENST00000280020CDH2chr18

25727636

-KIAA1328chr18

34646852

+
intron-5UTRENST00000399380ENST00000435985CDH2chr18

25727637

-KIAA1328chr18

34646853

+
intron-5UTRENST00000399380ENST00000435985CDH2chr18

25727636

-KIAA1328chr18

34646852

+
intron-5UTRENST00000399380ENST00000586135CDH2chr18

25727637

-KIAA1328chr18

34646853

+
intron-5UTRENST00000399380ENST00000586135CDH2chr18

25727636

-KIAA1328chr18

34646852

+
intron-5UTRENST00000399380ENST00000586501CDH2chr18

25727637

-KIAA1328chr18

34646853

+
intron-5UTRENST00000399380ENST00000586501CDH2chr18

25727636

-KIAA1328chr18

34646852

+
intron-5UTRENST00000399380ENST00000591619CDH2chr18

25727637

-KIAA1328chr18

34646853

+
intron-5UTRENST00000399380ENST00000591619CDH2chr18

25727636

-KIAA1328chr18

34646852

+
intron-intronENST00000399380ENST00000592521CDH2chr18

25727637

-KIAA1328chr18

34646853

+
intron-intronENST00000399380ENST00000592521CDH2chr18

25727636

-KIAA1328chr18

34646852

+
intron-intronENST00000399380ENST00000601437CDH2chr18

25727637

-KIAA1328chr18

34646853

+
intron-intronENST00000399380ENST00000601437CDH2chr18

25727636

-KIAA1328chr18

34646852

+

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 CDH2-KIAA1328


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)
CDH2chr1825727636-KIAA1328chr1834646852+0.0001873150.99981266
CDH2chr1825727636-KIAA1328chr1834646852+0.0001873150.99981266
CDH2chr1825727636-KIAA1328chr1834646852+0.0001873150.99981266
CDH2chr1825727636-KIAA1328chr1834646852+0.0001873150.99981266


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 CDH2-KIAA1328


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/:25727636/:34646852)
- 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
.KIAA1328

Q86T90

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}.FUNCTION: Competes with SMC1 for binding to SMC3. May affect the availability of SMC3 to engage in the formation of multimeric protein complexes. {ECO:0000269|PubMed:15656913}.

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 CDH2-KIAA1328


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 CDH2-KIAA1328


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 CDH2-KIAA1328


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 CDH2-KIAA1328


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCDH2C0006142Malignant neoplasm of breast1CTD_human
HgeneCDH2C0013261Duane Retraction Syndrome1GENOMICS_ENGLAND
HgeneCDH2C0024623Malignant neoplasm of stomach1CTD_human
HgeneCDH2C0027626Neoplasm Invasiveness1CTD_human
HgeneCDH2C0027627Neoplasm Metastasis1CTD_human
HgeneCDH2C0027746Nerve Degeneration1CTD_human
HgeneCDH2C0038220Status Epilepticus1CTD_human
HgeneCDH2C0038356Stomach Neoplasms1CTD_human
HgeneCDH2C0151744Myocardial Ischemia1CTD_human
HgeneCDH2C0235874Disease Exacerbation1CTD_human
HgeneCDH2C0270823Petit mal status1CTD_human
HgeneCDH2C0311335Grand Mal Status Epilepticus1CTD_human
HgeneCDH2C0393734Complex Partial Status Epilepticus1CTD_human
HgeneCDH2C0454455Mirror movements disorder1GENOMICS_ENGLAND
HgeneCDH2C0557874Global developmental delay1GENOMICS_ENGLAND
HgeneCDH2C0678222Breast Carcinoma1CTD_human
HgeneCDH2C0744356Abnormality of the genital system1GENOMICS_ENGLAND
HgeneCDH2C0751522Status Epilepticus, Subclinical1CTD_human
HgeneCDH2C0751523Non-Convulsive Status Epilepticus1CTD_human
HgeneCDH2C0751524Simple Partial Status Epilepticus1CTD_human
HgeneCDH2C1257931Mammary Neoplasms, Human1CTD_human
HgeneCDH2C1458155Mammary Neoplasms1CTD_human
HgeneCDH2C1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgeneCDH2C1837249Malformations of Cortical Development, Group II1GENOMICS_ENGLAND
HgeneCDH2C1842581Abnormal corpus callosum morphology1GENOMICS_ENGLAND
HgeneCDH2C3714756Intellectual Disability1GENOMICS_ENGLAND
HgeneCDH2C4316870Abnormality of the eye1GENOMICS_ENGLAND
HgeneCDH2C4704874Mammary Carcinoma, Human1CTD_human