|
Fusion gene ID: 6427 |
FusionGeneSummary for CDH12_HSPD1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: CDH12_HSPD1 | Fusion gene ID: 6427 | Hgene | Tgene | Gene symbol | CDH12 | HSPD1 | Gene ID | 1010 | 3329 |
Gene name | cadherin 12 | heat shock protein family D (Hsp60) member 1 | |
Synonyms | CDHB | CPN60|GROEL|HLD4|HSP-60|HSP60|HSP65|HuCHA60|SPG13 | |
Cytomap | 5p14.3 | 2q33.1 | |
Type of gene | protein-coding | protein-coding | |
Description | cadherin-12Br-cadherinN-cadherin 2brain-cadherincadherin, neural type, 2neural type cadherin 2neuronal cadherin 2 | 60 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 date | 20180523 | 20180523 | |
UniProtAcc | P55289 | P10809 | |
Ensembl transtripts involved in fusion gene | ENST00000504376, ENST00000382254, ENST00000522262, ENST00000521384, | ENST00000388968, ENST00000345042, ENST00000544407, | |
Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 6 X 6 X 4=144 |
# samples | 3 | 6 | |
** MAII score | log2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | HSPD1 | GO:0002368 | B cell cytokine production | 16148103 |
Tgene | HSPD1 | GO:0002755 | MyD88-dependent toll-like receptor signaling pathway | 16148103 |
Tgene | HSPD1 | GO:0002842 | positive regulation of T cell mediated immune response to tumor cell | 10663613 |
Tgene | HSPD1 | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | 17823127 |
Tgene | HSPD1 | GO:0006986 | response to unfolded protein | 11050098 |
Tgene | HSPD1 | GO:0032727 | positive regulation of interferon-alpha production | 17164250 |
Tgene | HSPD1 | GO:0032729 | positive regulation of interferon-gamma production | 17164250 |
Tgene | HSPD1 | GO:0032733 | positive regulation of interleukin-10 production | 16148103 |
Tgene | HSPD1 | GO:0032735 | positive regulation of interleukin-12 production | 17164250 |
Tgene | HSPD1 | GO:0032755 | positive regulation of interleukin-6 production | 16148103 |
Tgene | HSPD1 | GO:0042026 | protein refolding | 11050098 |
Tgene | HSPD1 | GO:0042100 | B cell proliferation | 16148103 |
Tgene | HSPD1 | GO:0042110 | T cell activation | 15371451|17164250|18256040 |
Tgene | HSPD1 | GO:0042113 | B cell activation | 16148103 |
Tgene | HSPD1 | GO:0043032 | positive regulation of macrophage activation | 17164250 |
Tgene | HSPD1 | GO:0044406 | adhesion of symbiont to host | 20633027 |
Tgene | HSPD1 | GO:0048291 | isotype switching to IgG isotypes | 16148103 |
Tgene | HSPD1 | GO:0050870 | positive regulation of T cell activation | 16148103|17164250 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BC047350 | CDH12 | chr5 | 21883542 | - | HSPD1 | chr2 | 198363518 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-3CDS | ENST00000504376 | ENST00000388968 | CDH12 | chr5 | 21883542 | - | HSPD1 | chr2 | 198363518 | - |
intron-3CDS | ENST00000504376 | ENST00000345042 | CDH12 | chr5 | 21883542 | - | HSPD1 | chr2 | 198363518 | - |
intron-3CDS | ENST00000504376 | ENST00000544407 | CDH12 | chr5 | 21883542 | - | HSPD1 | chr2 | 198363518 | - |
intron-3CDS | ENST00000382254 | ENST00000388968 | CDH12 | chr5 | 21883542 | - | HSPD1 | chr2 | 198363518 | - |
intron-3CDS | ENST00000382254 | ENST00000345042 | CDH12 | chr5 | 21883542 | - | HSPD1 | chr2 | 198363518 | - |
intron-3CDS | ENST00000382254 | ENST00000544407 | CDH12 | chr5 | 21883542 | - | HSPD1 | chr2 | 198363518 | - |
intron-3CDS | ENST00000522262 | ENST00000388968 | CDH12 | chr5 | 21883542 | - | HSPD1 | chr2 | 198363518 | - |
intron-3CDS | ENST00000522262 | ENST00000345042 | CDH12 | chr5 | 21883542 | - | HSPD1 | chr2 | 198363518 | - |
intron-3CDS | ENST00000522262 | ENST00000544407 | CDH12 | chr5 | 21883542 | - | HSPD1 | chr2 | 198363518 | - |
intron-3CDS | ENST00000521384 | ENST00000388968 | CDH12 | chr5 | 21883542 | - | HSPD1 | chr2 | 198363518 | - |
intron-3CDS | ENST00000521384 | ENST00000345042 | CDH12 | chr5 | 21883542 | - | HSPD1 | chr2 | 198363518 | - |
intron-3CDS | ENST00000521384 | ENST00000544407 | CDH12 | chr5 | 21883542 | - | HSPD1 | chr2 | 198363518 | - |
Top |
FusionProtFeatures for CDH12_HSPD1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
CDH12 | HSPD1 |
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}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Top |
FusionGeneSequence for CDH12_HSPD1 |
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). |
Top |
FusionGenePPI for CDH12_HSPD1 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for CDH12_HSPD1 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for CDH12_HSPD1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CDH12 | C0001973 | Alcoholic Intoxication, Chronic | 2 | PSYGENET |
Tgene | HSPD1 | C0038356 | Stomach Neoplasms | 2 | CTD_human |
Tgene | HSPD1 | C1854467 | Spastic paraplegia 13, autosomal dominant | 2 | CTD_human;ORPHANET;UNIPROT |
Tgene | HSPD1 | C0001418 | Adenocarcinoma | 1 | CTD_human |
Tgene | HSPD1 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
Tgene | HSPD1 | C0007194 | Hypertrophic Cardiomyopathy | 1 | CTD_human |
Tgene | HSPD1 | C0019693 | HIV Infections | 1 | CTD_human |
Tgene | HSPD1 | C0376618 | Endotoxemia | 1 | CTD_human |
Tgene | HSPD1 | C0740392 | Infarction, Middle Cerebral Artery | 1 | CTD_human |
Tgene | HSPD1 | C0878544 | Cardiomyopathies | 1 | CTD_human |
Tgene | HSPD1 | C0948089 | Acute Coronary Syndrome | 1 | CTD_human |
Tgene | HSPD1 | C2677109 | Leukodystrophy, Hypomyelinating, 4 | 1 | CTD_human;ORPHANET;UNIPROT |