|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 10258 |
FusionGeneSummary for DNAJC3_CBFA2T2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DNAJC3_CBFA2T2 | Fusion gene ID: 10258 | Hgene | Tgene | Gene symbol | DNAJC3 | CBFA2T2 | Gene ID | 5611 | 9139 |
| Gene name | DnaJ heat shock protein family (Hsp40) member C3 | CBFA2/RUNX1 translocation partner 2 | |
| Synonyms | ACPHD|ERdj6|HP58|P58|P58IPK|PRKRI | EHT|MTGR1|ZMYND3|p85 | |
| Cytomap | 13q32.1 | 20q11.21-q11.22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | dnaJ homolog subfamily C member 3DnaJ (Hsp40) homolog, subfamily C, member 3ER-resident protein ERdj6endoplasmic reticulum DNA J domain-containing protein 6interferon-induced, double-stranded RNA-activated protein kinase inhibitorprotein kinase inhib | protein CBFA2T2ETO homolog on chromosome 20ETO homologous on chromosome 20MTG8-like proteinMTG8-related protein 1core-binding factor, runt domain, alpha subunit 2; translocated to, 2myeloid translocation gene-related protein 1myeloid translocation- | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q13217 | O43439 | |
| Ensembl transtripts involved in fusion gene | ENST00000602402, ENST00000376795, | ENST00000342704, ENST00000375279, ENST00000344201, ENST00000397798, ENST00000346541, ENST00000397800, ENST00000492345, ENST00000359606, ENST00000491618, ENST00000543126, | |
| Fusion gene scores | * DoF score | 7 X 6 X 5=210 | 11 X 10 X 8=880 |
| # samples | 9 | 15 | |
| ** MAII score | log2(9/210*10)=-1.22239242133645 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(15/880*10)=-2.55254102302878 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: DNAJC3 [Title/Abstract] AND CBFA2T2 [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 | CBFA2T2 | GO:0010976 | positive regulation of neuron projection development | 19026687 |
| Tgene | CBFA2T2 | GO:0045892 | negative regulation of transcription, DNA-templated | 23251453 |
| 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 | BG992563 | DNAJC3 | chr13 | 96444658 | - | CBFA2T2 | chr20 | 32110101 | + |
| * 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-intron | ENST00000602402 | ENST00000342704 | DNAJC3 | chr13 | 96444658 | - | CBFA2T2 | chr20 | 32110101 | + |
| 3UTR-intron | ENST00000602402 | ENST00000375279 | DNAJC3 | chr13 | 96444658 | - | CBFA2T2 | chr20 | 32110101 | + |
| 3UTR-intron | ENST00000602402 | ENST00000344201 | DNAJC3 | chr13 | 96444658 | - | CBFA2T2 | chr20 | 32110101 | + |
| 3UTR-intron | ENST00000602402 | ENST00000397798 | DNAJC3 | chr13 | 96444658 | - | CBFA2T2 | chr20 | 32110101 | + |
| 3UTR-intron | ENST00000602402 | ENST00000346541 | DNAJC3 | chr13 | 96444658 | - | CBFA2T2 | chr20 | 32110101 | + |
| 3UTR-intron | ENST00000602402 | ENST00000397800 | DNAJC3 | chr13 | 96444658 | - | CBFA2T2 | chr20 | 32110101 | + |
| 3UTR-intron | ENST00000602402 | ENST00000492345 | DNAJC3 | chr13 | 96444658 | - | CBFA2T2 | chr20 | 32110101 | + |
| 3UTR-intron | ENST00000602402 | ENST00000359606 | DNAJC3 | chr13 | 96444658 | - | CBFA2T2 | chr20 | 32110101 | + |
| 3UTR-intron | ENST00000602402 | ENST00000491618 | DNAJC3 | chr13 | 96444658 | - | CBFA2T2 | chr20 | 32110101 | + |
| 3UTR-intron | ENST00000602402 | ENST00000543126 | DNAJC3 | chr13 | 96444658 | - | CBFA2T2 | chr20 | 32110101 | + |
| intron-intron | ENST00000376795 | ENST00000342704 | DNAJC3 | chr13 | 96444658 | - | CBFA2T2 | chr20 | 32110101 | + |
| intron-intron | ENST00000376795 | ENST00000375279 | DNAJC3 | chr13 | 96444658 | - | CBFA2T2 | chr20 | 32110101 | + |
| intron-intron | ENST00000376795 | ENST00000344201 | DNAJC3 | chr13 | 96444658 | - | CBFA2T2 | chr20 | 32110101 | + |
| intron-intron | ENST00000376795 | ENST00000397798 | DNAJC3 | chr13 | 96444658 | - | CBFA2T2 | chr20 | 32110101 | + |
| intron-intron | ENST00000376795 | ENST00000346541 | DNAJC3 | chr13 | 96444658 | - | CBFA2T2 | chr20 | 32110101 | + |
| intron-intron | ENST00000376795 | ENST00000397800 | DNAJC3 | chr13 | 96444658 | - | CBFA2T2 | chr20 | 32110101 | + |
| intron-intron | ENST00000376795 | ENST00000492345 | DNAJC3 | chr13 | 96444658 | - | CBFA2T2 | chr20 | 32110101 | + |
| intron-intron | ENST00000376795 | ENST00000359606 | DNAJC3 | chr13 | 96444658 | - | CBFA2T2 | chr20 | 32110101 | + |
| intron-intron | ENST00000376795 | ENST00000491618 | DNAJC3 | chr13 | 96444658 | - | CBFA2T2 | chr20 | 32110101 | + |
| intron-intron | ENST00000376795 | ENST00000543126 | DNAJC3 | chr13 | 96444658 | - | CBFA2T2 | chr20 | 32110101 | + |
Top |
FusionProtFeatures for DNAJC3_CBFA2T2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DNAJC3 | CBFA2T2 |
| Involved in the unfolded protein response (UPR) duringendoplasmic reticulum (ER) stress. Acts as a negative regulator ofthe EIF2AK4/GCN2 kinase activity by preventing the phosphorylationof eIF-2-alpha at 'Ser-52' and hence attenuating general proteinsynthesis under ER stress, hypothermic and amino acid starvingstress conditions (By similarity). Co-chaperone of HSPA8/HSC70, itstimulates its ATPase activity. May inhibit both theautophosphorylation of EIF2AK2/PKR and the ability of EIF2AK2 tocatalyze phosphorylation of the EIF2A. May inhibit EIF2AK3/PERKactivity. {ECO:0000250|UniProtKB:Q27968,ECO:0000250|UniProtKB:Q91YW3, ECO:0000269|PubMed:12601012,ECO:0000269|PubMed:8576172, ECO:0000269|PubMed:9447982,ECO:0000269|PubMed:9920933}. |
| 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 DNAJC3_CBFA2T2 |
| 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 DNAJC3_CBFA2T2 |
| 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 DNAJC3_CBFA2T2 |
| 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 DNAJC3_CBFA2T2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | DNAJC3 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|