|
Fusion gene ID: 10222 |
FusionGeneSummary for DNAJB9_TPP1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: DNAJB9_TPP1 | Fusion gene ID: 10222 | Hgene | Tgene | Gene symbol | DNAJB9 | TPP1 | Gene ID | 4189 | 1200 |
Gene name | DnaJ heat shock protein family (Hsp40) member B9 | tripeptidyl peptidase 1 | |
Synonyms | ERdj4|MDG-1|MDG1|MST049|MSTP049 | CLN2|GIG1|LPIC|SCAR7|TPP-1 | |
Cytomap | 7q31.1|14q24.2-q24.3 | 11p15.4 | |
Type of gene | protein-coding | protein-coding | |
Description | dnaJ homolog subfamily B member 9DnaJ (Hsp40) homolog, subfamily B, member 9ER-resident protein ERdj4endoplasmic reticulum DNA J domain-containing protein 4endoplasmic reticulum DnaJ homolog 4microvascular endothelial differentiation gene 1 protein | tripeptidyl-peptidase 1cell growth-inhibiting gene 1 proteingrowth-inhibiting protein 1lysosomal pepstatin insensitive proteasetripeptidyl aminopeptidasetripeptidyl peptidase I | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q9UBS3 | O14773 | |
Ensembl transtripts involved in fusion gene | ENST00000249356, ENST00000465725, | ENST00000299427, ENST00000533371, ENST00000534644, ENST00000528657, | |
Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 7 X 7 X 1=49 |
# samples | 3 | 9 | |
** MAII score | log2(3/4*10)=2.90689059560852 | log2(9/49*10)=0.877143252214467 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: DNAJB9 [Title/Abstract] AND TPP1 [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 |
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 | AA368502 | DNAJB9 | chr7 | 108214110 | - | TPP1 | chr11 | 6634997 | + | ||
ChiTaRS3.1 | AW956976 | DNAJB9 | chr7 | 108214110 | - | TPP1 | chr11 | 6634997 | + |
* 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 |
3UTR-3UTR | ENST00000249356 | ENST00000299427 | DNAJB9 | chr7 | 108214110 | - | TPP1 | chr11 | 6634997 | + |
3UTR-3UTR | ENST00000249356 | ENST00000533371 | DNAJB9 | chr7 | 108214110 | - | TPP1 | chr11 | 6634997 | + |
3UTR-intron | ENST00000249356 | ENST00000534644 | DNAJB9 | chr7 | 108214110 | - | TPP1 | chr11 | 6634997 | + |
3UTR-intron | ENST00000249356 | ENST00000528657 | DNAJB9 | chr7 | 108214110 | - | TPP1 | chr11 | 6634997 | + |
intron-3UTR | ENST00000465725 | ENST00000299427 | DNAJB9 | chr7 | 108214110 | - | TPP1 | chr11 | 6634997 | + |
intron-3UTR | ENST00000465725 | ENST00000533371 | DNAJB9 | chr7 | 108214110 | - | TPP1 | chr11 | 6634997 | + |
intron-intron | ENST00000465725 | ENST00000534644 | DNAJB9 | chr7 | 108214110 | - | TPP1 | chr11 | 6634997 | + |
intron-intron | ENST00000465725 | ENST00000528657 | DNAJB9 | chr7 | 108214110 | - | TPP1 | chr11 | 6634997 | + |
Top |
FusionProtFeatures for DNAJB9_TPP1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
DNAJB9 | TPP1 |
Co-chaperone for Hsp70 protein HSPA5/BiP that acts as akey repressor of the ERN1/IRE1-mediated unfolded protein response(UPR) (By similarity). J domain-containing co-chaperones stimulatethe ATPase activity of Hsp70 proteins and are required forefficient substrate recognition by Hsp70 proteins(PubMed:18400946). In the unstressed endoplasmic reticulum,interacts with the luminal region of ERN1/IRE1 and selectivelyrecruits HSPA5/BiP: HSPA5/BiP disrupts the dimerization of theactive ERN1/IRE1 luminal region, thereby inactivating ERN1/IRE1(By similarity). Also involved in endoplasmic reticulum-associateddegradation (ERAD) of misfolded proteins. Required for survival ofB-cell progenitors and normal antibody production (By similarity).{ECO:0000250|UniProtKB:G3H0N9, ECO:0000250|UniProtKB:Q9QYI6,ECO:0000269|PubMed:18400946}. | Lysosomal serine protease with tripeptidyl-peptidase Iactivity. May act as a non-specific lysosomal peptidase whichgenerates tripeptides from the breakdown products produced bylysosomal proteinases. Requires substrates with an unsubstitutedN-terminus (By similarity). {ECO:0000250|UniProtKB:Q9EQV6}. |
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 DNAJB9_TPP1 |
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 DNAJB9_TPP1 |
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 DNAJB9_TPP1 |
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 DNAJB9_TPP1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | DNAJB9 | C0008370 | Cholestasis | 1 | CTD_human |
Hgene | DNAJB9 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
Tgene | TPP1 | C1876161 | CEROID LIPOFUSCINOSIS, NEURONAL, 2 | 15 | CTD_human;ORPHANET;UNIPROT |
Tgene | TPP1 | C0027877 | Neuronal Ceroid-Lipofuscinoses | 2 | CTD_human |
Tgene | TPP1 | C0002395 | Alzheimer's Disease | 1 | CTD_human |
Tgene | TPP1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Tgene | TPP1 | C1836474 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 | 1 | ORPHANET;UNIPROT |