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Fusion gene ID: 20266 |
FusionGeneSummary for LRRC8A_PDIA4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: LRRC8A_PDIA4 | Fusion gene ID: 20266 | Hgene | Tgene | Gene symbol | LRRC8A | PDIA4 | Gene ID | 56262 | 9601 |
| Gene name | leucine rich repeat containing 8 VRAC subunit A | protein disulfide isomerase family A member 4 | |
| Synonyms | AGM5|LRRC8|SWELL1 | ERP70|ERP72|ERp-72 | |
| Cytomap | 9q34.11 | 7q36.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | volume-regulated anion channel subunit LRRC8Aleucine rich repeat containing 8 family member Aleucine-rich repeat-containing protein 8Aswelling protein 1 | protein disulfide-isomerase A4ER protein 70ER protein 72endoplasmic reticulum resident protein 70endoplasmic reticulum resident protein 72protein disulfide isomerase related protein (calcium-binding protein, intestinal-related)protein disulfide isom | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q8IWT6 | P13667 | |
| Ensembl transtripts involved in fusion gene | ENST00000372600, ENST00000372599, ENST00000259324, ENST00000492784, | ENST00000286091, | |
| Fusion gene scores | * DoF score | 6 X 6 X 3=108 | 4 X 4 X 2=32 |
| # samples | 6 | 4 | |
| ** MAII score | log2(6/108*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: LRRC8A [Title/Abstract] AND PDIA4 [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 | BF807186 | LRRC8A | chr9 | 131655570 | + | PDIA4 | chr7 | 148702439 | + |
| * 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 |
| intron-3CDS | ENST00000372600 | ENST00000286091 | LRRC8A | chr9 | 131655570 | + | PDIA4 | chr7 | 148702439 | + |
| intron-3CDS | ENST00000372599 | ENST00000286091 | LRRC8A | chr9 | 131655570 | + | PDIA4 | chr7 | 148702439 | + |
| intron-3CDS | ENST00000259324 | ENST00000286091 | LRRC8A | chr9 | 131655570 | + | PDIA4 | chr7 | 148702439 | + |
| intron-3CDS | ENST00000492784 | ENST00000286091 | LRRC8A | chr9 | 131655570 | + | PDIA4 | chr7 | 148702439 | + |
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FusionProtFeatures for LRRC8A_PDIA4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| LRRC8A | PDIA4 |
| Essential component of the volume-regulated anionchannel (VRAC, also named VSOAC channel), an anion channelrequired to maintain a constant cell volume in response toextracellular or intracellular osmotic changes (PubMed:24725410,PubMed:24790029, PubMed:26530471, PubMed:26824658,PubMed:28193731, PubMed:29769723). The VRAC channel conductsiodide better than chloride and can also conduct organic osmolyteslike taurine (PubMed:24725410, PubMed:24790029, PubMed:26530471,PubMed:26824658, PubMed:28193731). Mediates efflux of amino acids,such as aspartate and glutamate, in response to osmotic stress(PubMed:28193731). LRRC8A and LRRC8D are required for the uptakeof the drug cisplatin (PubMed:26530471). Required for in vivochannel activity, together with at least one other family member(LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics dependon the precise subunit composition (PubMed:24790029,PubMed:26824658, PubMed:28193731). Can form functional channels byitself (in vitro) (PubMed:26824658). Involved in B-celldevelopment: required for the pro-B cell to pre-B cell transition(PubMed:14660746). Also required for T-cell development (Bysimilarity). {ECO:0000250|UniProtKB:Q80WG5,ECO:0000269|PubMed:14660746, ECO:0000269|PubMed:24725410,ECO:0000269|PubMed:24790029, ECO:0000269|PubMed:26530471,ECO:0000269|PubMed:26824658, ECO:0000269|PubMed:28193731,ECO:0000269|PubMed:29769723}. |
| 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 LRRC8A_PDIA4 |
| 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 LRRC8A_PDIA4 |
| 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 |
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RelatedDrugs for LRRC8A_PDIA4 |
| 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 |
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RelatedDiseases for LRRC8A_PDIA4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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