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Fusion gene ID: 23413 |
FusionGeneSummary for NAPSA_CLCN3 |
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Fusion gene information | Fusion gene name: NAPSA_CLCN3 | Fusion gene ID: 23413 | Hgene | Tgene | Gene symbol | NAPSA | CLCN3 | Gene ID | 9476 | 1182 |
Gene name | napsin A aspartic peptidase | chloride voltage-gated channel 3 | |
Synonyms | KAP|Kdap|NAP1|NAPA|SNAPA | CLC3|ClC-3 | |
Cytomap | 19q13.33 | 4q33 | |
Type of gene | protein-coding | protein-coding | |
Description | napsin-AASP4TA01/TA02asp 4aspartyl protease 4kidney-derived aspartic protease-like proteinnapsin-1pronapsin A | H(+)/Cl(-) exchange transporter 3chloride channel 3chloride channel protein 3chloride channel, voltage-sensitive 3chloride transporter ClC-3 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | O96009 | P51790 | |
Ensembl transtripts involved in fusion gene | ENST00000253719, | ENST00000513761, ENST00000347613, ENST00000360642, ENST00000504131, ENST00000506924, | |
Fusion gene scores | * DoF score | 7 X 3 X 1=21 | 36 X 4 X 19=2736 |
# samples | 7 | 39 | |
** MAII score | log2(7/21*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(39/2736*10)=-2.81052220113629 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: NAPSA [Title/Abstract] AND CLCN3 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | NAPSA | GO:0033619 | membrane protein proteolysis | 14766755 |
Hgene | NAPSA | GO:0043129 | surfactant homeostasis | 18216060 |
Tgene | CLCN3 | GO:1902476 | chloride transmembrane transport | 11274166 |
![]() (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 |
TCGA | RV | LUAD | TCGA-50-8460-01A | NAPSA | chr19 | 50861735 | - | CLCN3 | chr4 | 170623929 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
5CDS-intron | ENST00000253719 | ENST00000513761 | NAPSA | chr19 | 50861735 | - | CLCN3 | chr4 | 170623929 | + |
5CDS-intron | ENST00000253719 | ENST00000347613 | NAPSA | chr19 | 50861735 | - | CLCN3 | chr4 | 170623929 | + |
5CDS-intron | ENST00000253719 | ENST00000360642 | NAPSA | chr19 | 50861735 | - | CLCN3 | chr4 | 170623929 | + |
5CDS-intron | ENST00000253719 | ENST00000504131 | NAPSA | chr19 | 50861735 | - | CLCN3 | chr4 | 170623929 | + |
5CDS-intron | ENST00000253719 | ENST00000506924 | NAPSA | chr19 | 50861735 | - | CLCN3 | chr4 | 170623929 | + |
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FusionProtFeatures for NAPSA_CLCN3 |
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Hgene | Tgene |
NAPSA | CLCN3 |
May be involved in processing of pneumocyte surfactantprecursors. | Mediates the exchange of chloride ions against protons.Functions as antiporter and contributes to the acidification ofthe endosome and synaptic vesicle lumen, and may thereby affectvesicle trafficking and exocytosis. May play an important role inneuronal cell function through regulation of membrane excitabilityby protein kinase C. It could help neuronal cells to establishshort-term memory. {ECO:0000269|PubMed:11967229}. |
![]() * 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 |
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FusionGeneSequence for NAPSA_CLCN3 |
![]() (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 NAPSA_CLCN3 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
NAPSA | ADAMTS1, HSPA5, RDH13, GRN, CTSD, NPTX1 | CLCN3 | CLCN3, SLC9A3R1, PDZK1, GOPC, CFTR, LGALS3, LGALS8, LGALS9, LYPD3, HSPB1, TMEM9B, GGA1, TPCN2, TRIM25 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for NAPSA_CLCN3 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for NAPSA_CLCN3 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | CLCN3 | C0017638 | Glioma | 1 | CTD_human |
Tgene | CLCN3 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Tgene | CLCN3 | C2931822 | Nasopharyngeal carcinoma | 1 | CTD_human |