|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 10264 |
FusionGeneSummary for DNAJC3_NPC2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DNAJC3_NPC2 | Fusion gene ID: 10264 | Hgene | Tgene | Gene symbol | DNAJC3 | NPC2 | Gene ID | 5611 | 10577 |
| Gene name | DnaJ heat shock protein family (Hsp40) member C3 | NPC intracellular cholesterol transporter 2 | |
| Synonyms | ACPHD|ERdj6|HP58|P58|P58IPK|PRKRI | EDDM1|HE1 | |
| Cytomap | 13q32.1 | 14q24.3 | |
| 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 | NPC intracellular cholesterol transporter 2Niemann-Pick disease type C2 proteinepididymal protein 1human epididymis-specific protein 1tissue-specific secretory protein | |
| Modification date | 20180523 | 20180529 | |
| UniProtAcc | Q13217 | P61916 | |
| Ensembl transtripts involved in fusion gene | ENST00000602402, ENST00000376795, | ENST00000434013, ENST00000541064, ENST00000555619, ENST00000238633, ENST00000557510, | |
| Fusion gene scores | * DoF score | 7 X 6 X 5=210 | 2 X 2 X 1=4 |
| # samples | 9 | 2 | |
| ** MAII score | log2(9/210*10)=-1.22239242133645 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: DNAJC3 [Title/Abstract] AND NPC2 [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 | NPC2 | GO:0030301 | cholesterol transport | 17018531|18772377 |
| Tgene | NPC2 | GO:0032366 | intracellular sterol transport | 17018531 |
| Tgene | NPC2 | GO:0032367 | intracellular cholesterol transport | 17018531|18823126 |
| Tgene | NPC2 | GO:0033344 | cholesterol efflux | 16141411 |
| Tgene | NPC2 | GO:0042632 | cholesterol homeostasis | 12719428 |
| 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 | BE004606 | DNAJC3 | chr13 | 96444701 | - | NPC2 | chr14 | 74946734 | + |
| * 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 | ENST00000434013 | DNAJC3 | chr13 | 96444701 | - | NPC2 | chr14 | 74946734 | + |
| 3UTR-3UTR | ENST00000602402 | ENST00000541064 | DNAJC3 | chr13 | 96444701 | - | NPC2 | chr14 | 74946734 | + |
| 3UTR-3UTR | ENST00000602402 | ENST00000555619 | DNAJC3 | chr13 | 96444701 | - | NPC2 | chr14 | 74946734 | + |
| 3UTR-3UTR | ENST00000602402 | ENST00000238633 | DNAJC3 | chr13 | 96444701 | - | NPC2 | chr14 | 74946734 | + |
| 3UTR-intron | ENST00000602402 | ENST00000557510 | DNAJC3 | chr13 | 96444701 | - | NPC2 | chr14 | 74946734 | + |
| intron-intron | ENST00000376795 | ENST00000434013 | DNAJC3 | chr13 | 96444701 | - | NPC2 | chr14 | 74946734 | + |
| intron-3UTR | ENST00000376795 | ENST00000541064 | DNAJC3 | chr13 | 96444701 | - | NPC2 | chr14 | 74946734 | + |
| intron-3UTR | ENST00000376795 | ENST00000555619 | DNAJC3 | chr13 | 96444701 | - | NPC2 | chr14 | 74946734 | + |
| intron-3UTR | ENST00000376795 | ENST00000238633 | DNAJC3 | chr13 | 96444701 | - | NPC2 | chr14 | 74946734 | + |
| intron-intron | ENST00000376795 | ENST00000557510 | DNAJC3 | chr13 | 96444701 | - | NPC2 | chr14 | 74946734 | + |
Top |
FusionProtFeatures for DNAJC3_NPC2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DNAJC3 | NPC2 |
| 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}. | Intracellular cholesterol transporter which acts inconcert with NPC1 and plays an important role in the egress ofcholesterol from the endosomal/lysosomal compartment. Both NPC1and NPC2 function as the cellular 'tag team duo' (TTD) to catalyzethe mobilization of cholesterol within the multivesicularenvironment of the late endosome (LE) to effect egress through thelimiting bilayer of the LE. NPC2 binds unesterified cholesterolthat has been released from LDLs in the lumen of the lateendosomes/lysosomes and transfers it to the cholesterol-bindingpocket of the N-terminal domain of NPC1. Cholesterol binds to NPC1with the hydroxyl group buried in the binding pocket and isexported from the limiting membrane of late endosomes/ lysosomesto the ER and plasma membrane by an unknown mechanism. Thesecreted form of NCP2 regulates biliary cholesterol secretion viastimulation of ABCG5/ABCG8-mediated cholesterol transport.{ECO:0000269|PubMed:17018531, ECO:0000269|PubMed:18772377,ECO:0000269|PubMed:18823126}. |
| 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_NPC2 |
| 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_NPC2 |
| 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_NPC2 |
| 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_NPC2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | DNAJC3 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | NPC2 | C1843366 | NIEMANN-PICK DISEASE, TYPE C2 | 4 | CTD_human;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|