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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: 6427

FusionGeneSummary for CDH12_HSPD1

check button Fusion gene summary
Fusion gene informationFusion gene name: CDH12_HSPD1
Fusion gene ID: 6427
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

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 60heat shock 60kDa protein 1 (chaperonin)heat shock protein 65mitochondrial matrix protein P1short heat shock protein 60 Hsp60s1
Modification date2018052320180523
UniProtAcc

P55289

P10809

Ensembl transtripts involved in fusion geneENST00000504376, ENST00000382254, 
ENST00000522262, ENST00000521384, 
ENST00000388968, ENST00000345042, 
ENST00000544407, 
Fusion gene scores* DoF score3 X 3 X 3=276 X 6 X 4=144
# samples 36
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/144*10)=-1.26303440583379
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]

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
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 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
ChiTaRS3.1BC047350CDH12chr5

21883542

-HSPD1chr2

198363518

-
* 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
intron-3CDSENST00000504376ENST00000388968CDH12chr5

21883542

-HSPD1chr2

198363518

-
intron-3CDSENST00000504376ENST00000345042CDH12chr5

21883542

-HSPD1chr2

198363518

-
intron-3CDSENST00000504376ENST00000544407CDH12chr5

21883542

-HSPD1chr2

198363518

-
intron-3CDSENST00000382254ENST00000388968CDH12chr5

21883542

-HSPD1chr2

198363518

-
intron-3CDSENST00000382254ENST00000345042CDH12chr5

21883542

-HSPD1chr2

198363518

-
intron-3CDSENST00000382254ENST00000544407CDH12chr5

21883542

-HSPD1chr2

198363518

-
intron-3CDSENST00000522262ENST00000388968CDH12chr5

21883542

-HSPD1chr2

198363518

-
intron-3CDSENST00000522262ENST00000345042CDH12chr5

21883542

-HSPD1chr2

198363518

-
intron-3CDSENST00000522262ENST00000544407CDH12chr5

21883542

-HSPD1chr2

198363518

-
intron-3CDSENST00000521384ENST00000388968CDH12chr5

21883542

-HSPD1chr2

198363518

-
intron-3CDSENST00000521384ENST00000345042CDH12chr5

21883542

-HSPD1chr2

198363518

-
intron-3CDSENST00000521384ENST00000544407CDH12chr5

21883542

-HSPD1chr2

198363518

-

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FusionProtFeatures for CDH12_HSPD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CDH12

P55289

HSPD1

P10809

Cadherins are calcium-dependent cell adhesion proteins.They preferentially interact with themselves in a homophilicmanner in connecting cells; cadherins may thus contribute to thesorting of heterogeneous cell types. Chaperonin implicated in mitochondrial protein importand macromolecular assembly. Together with Hsp10, facilitates thecorrect folding of imported proteins. May also prevent misfoldingand promote the refolding and proper assembly of unfoldedpolypeptides generated under stress conditions in themitochondrial matrix (PubMed:1346131, PubMed:11422376). Thefunctional units of these chaperonins consist of heptameric ringsof the large subunit Hsp60, which function as a back-to-backdouble ring. In a cyclic reaction, Hsp60 ring complexes bind oneunfolded substrate protein per ring, followed by the binding ofATP and association with 2 heptameric rings of the co-chaperoninHsp10. This leads to sequestration of the substrate protein in theinner cavity of Hsp60 where, for a certain period of time, it canfold undisturbed by other cell components. Synchronous hydrolysisof ATP in all Hsp60 subunits results in the dissociation of thechaperonin rings and the release of ADP and the folded substrateprotein (Probable). {ECO:0000269|PubMed:11422376,ECO:0000269|PubMed:1346131, ECO:0000305|PubMed:25918392}.

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 CDH12_HSPD1


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 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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RelatedDrugs for CDH12_HSPD1


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 CDH12_HSPD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCDH12C0001973Alcoholic Intoxication, Chronic2PSYGENET
TgeneHSPD1C0038356Stomach Neoplasms2CTD_human
TgeneHSPD1C1854467Spastic paraplegia 13, autosomal dominant2CTD_human;ORPHANET;UNIPROT
TgeneHSPD1C0001418Adenocarcinoma1CTD_human
TgeneHSPD1C0007134Renal Cell Carcinoma1CTD_human
TgeneHSPD1C0007194Hypertrophic Cardiomyopathy1CTD_human
TgeneHSPD1C0019693HIV Infections1CTD_human
TgeneHSPD1C0376618Endotoxemia1CTD_human
TgeneHSPD1C0740392Infarction, Middle Cerebral Artery1CTD_human
TgeneHSPD1C0878544Cardiomyopathies1CTD_human
TgeneHSPD1C0948089Acute Coronary Syndrome1CTD_human
TgeneHSPD1C2677109Leukodystrophy, Hypomyelinating, 41CTD_human;ORPHANET;UNIPROT