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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:CDH12-HSPD1 (FusionGDB2 ID:HG1010TG3329)

Fusion Gene Summary for CDH12-HSPD1

check button Fusion gene summary
Fusion gene informationFusion gene name: CDH12-HSPD1
Fusion gene ID: hg1010tg3329
HgeneTgene
Gene symbol

CDH12

HSPD1

Gene ID

1010

3329

Gene namecadherin 12heat shock protein family D (Hsp60) member 1
SynonymsCDHBCPN60|GROEL|HLD4|HSP-60|HSP60|HSP65|HuCHA60|SPG13
Cytomap('CDH12')('HSPD1')

5p14.3

2q33.1

Type of geneprotein-codingprotein-coding
Descriptioncadherin-12Br-cadherinN-cadherin 2brain-cadherincadherin, neural type, 2neural type cadherin 2neuronal cadherin 260 kDa heat shock protein, mitochondrial60 kDa chaperoninP60 lymphocyte proteinchaperonin 60epididymis secretory sperm binding proteinheat shock 60kDa protein 1 (chaperonin)heat shock protein 65mitochondrial matrix protein P1short heat shock prote
Modification date2020031320200315
UniProtAcc

P55289

.
Ensembl transtripts involved in fusion geneENST00000382254, ENST00000504376, 
ENST00000521384, ENST00000522262, 
Fusion gene scores* DoF score9 X 9 X 3=24314 X 10 X 6=840
# samples 916
** MAII scorelog2(9/243*10)=-1.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/840*10)=-2.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CDH12 [Title/Abstract] AND HSPD1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCDH12(21884875)-HSPD1(198351924), # samples:1
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
TgeneHSPD1

GO:0002368

B cell cytokine production

16148103

TgeneHSPD1

GO:0002755

MyD88-dependent toll-like receptor signaling pathway

16148103

TgeneHSPD1

GO:0002842

positive regulation of T cell mediated immune response to tumor cell

10663613

TgeneHSPD1

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

17823127

TgeneHSPD1

GO:0006986

response to unfolded protein

11050098

TgeneHSPD1

GO:0032727

positive regulation of interferon-alpha production

17164250

TgeneHSPD1

GO:0032729

positive regulation of interferon-gamma production

17164250

TgeneHSPD1

GO:0032733

positive regulation of interleukin-10 production

16148103

TgeneHSPD1

GO:0032735

positive regulation of interleukin-12 production

17164250

TgeneHSPD1

GO:0032755

positive regulation of interleukin-6 production

16148103

TgeneHSPD1

GO:0042026

protein refolding

11050098

TgeneHSPD1

GO:0042100

B cell proliferation

16148103

TgeneHSPD1

GO:0042110

T cell activation

15371451|17164250|18256040

TgeneHSPD1

GO:0042113

B cell activation

16148103

TgeneHSPD1

GO:0043032

positive regulation of macrophage activation

17164250

TgeneHSPD1

GO:0044406

adhesion of symbiont to host

20633027

TgeneHSPD1

GO:0048291

isotype switching to IgG isotypes

16148103

TgeneHSPD1

GO:0050870

positive regulation of T cell activation

16148103|17164250



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/ADT220072CDH12chr5

21884875

+HSPD1chr2

198351924

-


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Fusion Gene ORF analysis for CDH12-HSPD1

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
intron-3CDSENST00000382254ENST00000345042CDH12chr5

21884875

+HSPD1chr2

198351924

-
intron-3CDSENST00000382254ENST00000388968CDH12chr5

21884875

+HSPD1chr2

198351924

-
intron-3CDSENST00000504376ENST00000345042CDH12chr5

21884875

+HSPD1chr2

198351924

-
intron-3CDSENST00000504376ENST00000388968CDH12chr5

21884875

+HSPD1chr2

198351924

-
intron-3CDSENST00000521384ENST00000345042CDH12chr5

21884875

+HSPD1chr2

198351924

-
intron-3CDSENST00000521384ENST00000388968CDH12chr5

21884875

+HSPD1chr2

198351924

-
intron-3CDSENST00000522262ENST00000345042CDH12chr5

21884875

+HSPD1chr2

198351924

-
intron-3CDSENST00000522262ENST00000388968CDH12chr5

21884875

+HSPD1chr2

198351924

-
intron-intronENST00000382254ENST00000544407CDH12chr5

21884875

+HSPD1chr2

198351924

-
intron-intronENST00000504376ENST00000544407CDH12chr5

21884875

+HSPD1chr2

198351924

-
intron-intronENST00000521384ENST00000544407CDH12chr5

21884875

+HSPD1chr2

198351924

-
intron-intronENST00000522262ENST00000544407CDH12chr5

21884875

+HSPD1chr2

198351924

-

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 CDH12-HSPD1


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)


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Fusion Protein Features for CDH12-HSPD1


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/:21884875/:198351924)
- 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
CDH12

P55289

.
FUNCTION: Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.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 CDH12-HSPD1


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 CDH12-HSPD1


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 CDH12-HSPD1


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 CDH12-HSPD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCDH12C0001973Alcoholic Intoxication, Chronic2PSYGENET
HgeneCDH12C0033578Prostatic Neoplasms1CTD_human
HgeneCDH12C0376358Malignant neoplasm of prostate1CTD_human
TgeneC1854467Spastic paraplegia 13, autosomal dominant4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC2677109Leukodystrophy, Hypomyelinating, 44CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0024623Malignant neoplasm of stomach2CTD_human
TgeneC0038356Stomach Neoplasms2CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer2CTD_human
TgeneC0001418Adenocarcinoma1CTD_human
TgeneC0007134Renal Cell Carcinoma1CTD_human
TgeneC0007194Hypertrophic Cardiomyopathy1CTD_human
TgeneC0019693HIV Infections1CTD_human
TgeneC0033141Cardiomyopathies, Primary1CTD_human
TgeneC0036529Myocardial Diseases, Secondary1CTD_human
TgeneC0205641Adenocarcinoma, Basal Cell1CTD_human
TgeneC0205642Adenocarcinoma, Oxyphilic1CTD_human
TgeneC0205643Carcinoma, Cribriform1CTD_human
TgeneC0205644Carcinoma, Granular Cell1CTD_human
TgeneC0205645Adenocarcinoma, Tubular1CTD_human
TgeneC0238281Middle Cerebral Artery Syndrome1CTD_human
TgeneC0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
TgeneC0376618Endotoxemia1CTD_human
TgeneC0740376Middle Cerebral Artery Thrombosis1CTD_human
TgeneC0740391Middle Cerebral Artery Occlusion1CTD_human
TgeneC0740392Infarction, Middle Cerebral Artery1CTD_human
TgeneC0751845Middle Cerebral Artery Embolus1CTD_human
TgeneC0751846Left Middle Cerebral Artery Infarction1CTD_human
TgeneC0751847Embolic Infarction, Middle Cerebral Artery1CTD_human
TgeneC0751848Thrombotic Infarction, Middle Cerebral Artery1CTD_human
TgeneC0751849Right Middle Cerebral Artery Infarction1CTD_human
TgeneC0878544Cardiomyopathies1CTD_human
TgeneC0948089Acute Coronary Syndrome1CTD_human
TgeneC1266042Chromophobe Renal Cell Carcinoma1CTD_human
TgeneC1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
TgeneC1266044Collecting Duct Carcinoma of the Kidney1CTD_human
TgeneC1306837Papillary Renal Cell Carcinoma1CTD_human
TgeneC4505456HIV Coinfection1CTD_human
TgeneC4551472Hypertrophic obstructive cardiomyopathy1CTD_human