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Fusion gene ID: 26177 |
FusionGeneSummary for PCCA_NALCN |
Fusion gene summary |
Fusion gene information | Fusion gene name: PCCA_NALCN | Fusion gene ID: 26177 | Hgene | Tgene | Gene symbol | PCCA | NALCN | Gene ID | 5095 | 259232 |
Gene name | propionyl-CoA carboxylase subunit alpha | sodium leak channel, non-selective | |
Synonyms | - | CLIFAHDD|CanIon|IHPRF|IHPRF1|INNFD|VGCNL1|bA430M15.1 | |
Cytomap | 13q32.3 | 13q32.3-q33.1 | |
Type of gene | protein-coding | protein-coding | |
Description | propionyl-CoA carboxylase alpha chain, mitochondrialPCCase alpha subunitpccA complementation grouppropanoyl-CoA:carbon dioxide ligase alpha subunitpropionyl CoA carboxylase, alpha polypeptidepropionyl Coenzyme A carboxylase, alpha polypeptidepropion | sodium leak channel non-selective proteinfour repeat voltage-gated ion channelvoltage gated channel like 1 | |
Modification date | 20180522 | 20180522 | |
UniProtAcc | P05165 | Q8IZF0 | |
Ensembl transtripts involved in fusion gene | ENST00000376279, ENST00000376286, ENST00000376285, ENST00000485946, | ENST00000251127, ENST00000470333, ENST00000376196, ENST00000376200, | |
Fusion gene scores | * DoF score | 11 X 9 X 8=792 | 3 X 3 X 3=27 |
# samples | 15 | 3 | |
** MAII score | log2(15/792*10)=-2.40053792958373 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: PCCA [Title/Abstract] AND NALCN [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 |
TCGA | LD | BRCA | TCGA-A7-A4SC-01A | PCCA | chr13 | 100888132 | + | NALCN | chr13 | 102051516 | - |
* 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 |
5CDS-5UTR | ENST00000376279 | ENST00000251127 | PCCA | chr13 | 100888132 | + | NALCN | chr13 | 102051516 | - |
5CDS-5UTR | ENST00000376279 | ENST00000470333 | PCCA | chr13 | 100888132 | + | NALCN | chr13 | 102051516 | - |
5CDS-5UTR | ENST00000376279 | ENST00000376196 | PCCA | chr13 | 100888132 | + | NALCN | chr13 | 102051516 | - |
5CDS-intron | ENST00000376279 | ENST00000376200 | PCCA | chr13 | 100888132 | + | NALCN | chr13 | 102051516 | - |
5CDS-5UTR | ENST00000376286 | ENST00000251127 | PCCA | chr13 | 100888132 | + | NALCN | chr13 | 102051516 | - |
5CDS-5UTR | ENST00000376286 | ENST00000470333 | PCCA | chr13 | 100888132 | + | NALCN | chr13 | 102051516 | - |
5CDS-5UTR | ENST00000376286 | ENST00000376196 | PCCA | chr13 | 100888132 | + | NALCN | chr13 | 102051516 | - |
5CDS-intron | ENST00000376286 | ENST00000376200 | PCCA | chr13 | 100888132 | + | NALCN | chr13 | 102051516 | - |
5CDS-5UTR | ENST00000376285 | ENST00000251127 | PCCA | chr13 | 100888132 | + | NALCN | chr13 | 102051516 | - |
5CDS-5UTR | ENST00000376285 | ENST00000470333 | PCCA | chr13 | 100888132 | + | NALCN | chr13 | 102051516 | - |
5CDS-5UTR | ENST00000376285 | ENST00000376196 | PCCA | chr13 | 100888132 | + | NALCN | chr13 | 102051516 | - |
5CDS-intron | ENST00000376285 | ENST00000376200 | PCCA | chr13 | 100888132 | + | NALCN | chr13 | 102051516 | - |
intron-5UTR | ENST00000485946 | ENST00000251127 | PCCA | chr13 | 100888132 | + | NALCN | chr13 | 102051516 | - |
intron-5UTR | ENST00000485946 | ENST00000470333 | PCCA | chr13 | 100888132 | + | NALCN | chr13 | 102051516 | - |
intron-5UTR | ENST00000485946 | ENST00000376196 | PCCA | chr13 | 100888132 | + | NALCN | chr13 | 102051516 | - |
intron-intron | ENST00000485946 | ENST00000376200 | PCCA | chr13 | 100888132 | + | NALCN | chr13 | 102051516 | - |
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FusionProtFeatures for PCCA_NALCN |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
PCCA | NALCN |
Voltage-independent, cation-nonselective channel whichis permeable to sodium, potassium and calcium ions. Regulates theresting membrane potential and controls neuronal excitability(PubMed:17448995). Neuropeptides such as neurotensin and substanceP (SP) stimulate the firing of action potentials by activatingNALCN through a SRC family kinases-dependent pathway. In additionto its baseline activity, NALCN activity is enhanced/modulated byseveral GPCRs. Required for normal respiratory rhythm and neonatalsurvival. Involved in systemic osmoregulation by controlling theserum sodium concentration. NALCN is partly responsible for thesubstance P-induced depolarization and regulation of theintestinal pace-making activity in the interstitial cells ofCajal. Plays a critical role in both maintenance of spontaneousfiring of substantia nigra pars reticulata (SNr) neurons andphysiological modulation of SNr neuron excitability (Bysimilarity). {ECO:0000250|UniProtKB:Q8BXR5,ECO:0000269|PubMed:17448995}. |
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 |
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FusionGeneSequence for PCCA_NALCN |
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). |
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FusionGenePPI for PCCA_NALCN |
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 |
PCCA | UBE2N, IFIT1, PARK2, HUWE1, RARS2, SGK1, THBS3, LGALS3, PCCB, PTEN, IP6K3, ERRFI1, ZNF746, ICMT, ACSM5, TTC1, WDYHV1, LAMP3, YBEY | NALCN | MEOX2, NUP107, PSMD11, LMNA |
- 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 |
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RelatedDrugs for PCCA_NALCN |
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 |
Hgene | PCCA | P05165 | DB00121 | Biotin | Propionyl-CoA carboxylase alpha chain, mitochondrial | small molecule | approved|investigational|nutraceutical |
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RelatedDiseases for PCCA_NALCN |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PCCA | C0268579 | Propionic acidemia | 3 | CTD_human;HPO;ORPHANET;UNIPROT |
Tgene | NALCN | C0036341 | Schizophrenia | 1 | PSYGENET |
Tgene | NALCN | C3809454 | HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 | 1 | UNIPROT |
Tgene | NALCN | C4225398 | CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY | 1 | UNIPROT |