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Fusion gene ID: 13867 |
FusionGeneSummary for FRAS1_LRRC8D |
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Fusion gene information | Fusion gene name: FRAS1_LRRC8D | Fusion gene ID: 13867 | Hgene | Tgene | Gene symbol | FRAS1 | LRRC8D | Gene ID | 80144 | 55144 |
Gene name | Fraser extracellular matrix complex subunit 1 | leucine rich repeat containing 8 VRAC subunit D | |
Synonyms | FRASRS1 | LRRC5 | |
Cytomap | 4q21.21 | 1p22.2 | |
Type of gene | protein-coding | protein-coding | |
Description | extracellular matrix protein FRAS1Fraser syndrome 1 | volume-regulated anion channel subunit LRRC8Dleucine rich repeat containing 5leucine rich repeat containing 8 family member Dleucine-rich repeat-containing protein 5leucine-rich repeat-containing protein 8D | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q86XX4 | Q7L1W4 | |
Ensembl transtripts involved in fusion gene | ENST00000264899, ENST00000325942, ENST00000264895, | ENST00000337338, ENST00000394593, | |
Fusion gene scores | * DoF score | 10 X 7 X 8=560 | 4 X 4 X 3=48 |
# samples | 10 | 5 | |
** MAII score | log2(10/560*10)=-2.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/48*10)=0.0588936890535686 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: FRAS1 [Title/Abstract] AND LRRC8D [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 |
![]() (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 | T05837 | FRAS1 | chr4 | 79245469 | + | LRRC8D | chr1 | 90324171 | - |
* 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 |
intron-intron | ENST00000264899 | ENST00000337338 | FRAS1 | chr4 | 79245469 | + | LRRC8D | chr1 | 90324171 | - |
intron-intron | ENST00000264899 | ENST00000394593 | FRAS1 | chr4 | 79245469 | + | LRRC8D | chr1 | 90324171 | - |
intron-intron | ENST00000325942 | ENST00000337338 | FRAS1 | chr4 | 79245469 | + | LRRC8D | chr1 | 90324171 | - |
intron-intron | ENST00000325942 | ENST00000394593 | FRAS1 | chr4 | 79245469 | + | LRRC8D | chr1 | 90324171 | - |
intron-intron | ENST00000264895 | ENST00000337338 | FRAS1 | chr4 | 79245469 | + | LRRC8D | chr1 | 90324171 | - |
intron-intron | ENST00000264895 | ENST00000394593 | FRAS1 | chr4 | 79245469 | + | LRRC8D | chr1 | 90324171 | - |
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FusionProtFeatures for FRAS1_LRRC8D |
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Hgene | Tgene |
FRAS1 | LRRC8D |
Non-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:24790029,PubMed:26530471, PubMed:26824658, PubMed:28193731). The VRACchannel conducts iodide better than chloride and can also conductorganic osmolytes like taurine (PubMed:24790029, PubMed:26824658,PubMed:28193731). Plays a redundant role in the efflux of aminoacids, such as aspartate, in response to osmotic stress(PubMed:28193731). Channel activity requires LRRC8A plus at leastone other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E);channel characteristics depend on the precise subunit composition(PubMed:24782309, PubMed:24790029, PubMed:26824658,PubMed:28193731). LRRC8A and LRRC8D are required for the uptake ofthe drug cisplatin (PubMed:26530471). Mediates the import of theantibiotic blasticidin-S into the cell (PubMed:24782309).{ECO:0000269|PubMed:24782309, ECO:0000269|PubMed:24790029,ECO:0000269|PubMed:26530471, ECO:0000269|PubMed:26824658,ECO:0000269|PubMed:28193731}. |
![]() * 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 FRAS1_LRRC8D |
![]() (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 FRAS1_LRRC8D |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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 FRAS1_LRRC8D |
![]() (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 FRAS1_LRRC8D |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | FRAS1 | C0024433 | Macrostomia | 1 | CTD_human |
Hgene | FRAS1 | C0265233 | Cryptophthalmos syndrome | 1 | CTD_human;ORPHANET |