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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 20263

FusionGeneSummary for LRRC8A_GON4L

check button Fusion gene summary
Fusion gene informationFusion gene name: LRRC8A_GON4L
Fusion gene ID: 20263
HgeneTgene
Gene symbol

LRRC8A

GON4L

Gene ID

56262

54856

Gene nameleucine rich repeat containing 8 VRAC subunit Agon-4 like
SynonymsAGM5|LRRC8|SWELL1GON-4|GON4|YARP
Cytomap

9q34.11

1q22

Type of geneprotein-codingprotein-coding
Descriptionvolume-regulated anion channel subunit LRRC8Aleucine rich repeat containing 8 family member Aleucine-rich repeat-containing protein 8Aswelling protein 1GON-4-like protein2610100B20RikYY1AP related proteinYY1AP-related protein1gon-4 homolog
Modification date2018052320180523
UniProtAcc

Q8IWT6

Q3T8J9

Ensembl transtripts involved in fusion geneENST00000372600, ENST00000372599, 
ENST00000259324, ENST00000492784, 
ENST00000437809, ENST00000368331, 
ENST00000271883, ENST00000361040, 
ENST00000471341, 
Fusion gene scores* DoF score6 X 6 X 3=1087 X 6 X 6=252
# samples 68
** MAII scorelog2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/252*10)=-1.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: LRRC8A [Title/Abstract] AND GON4L [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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVBRCATCGA-E2-A158-01ALRRC8Achr9

131648400

+GON4Lchr1

155774932

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5UTR-3CDSENST00000372600ENST00000437809LRRC8Achr9

131648400

+GON4Lchr1

155774932

-
5UTR-3CDSENST00000372600ENST00000368331LRRC8Achr9

131648400

+GON4Lchr1

155774932

-
5UTR-3CDSENST00000372600ENST00000271883LRRC8Achr9

131648400

+GON4Lchr1

155774932

-
5UTR-3CDSENST00000372600ENST00000361040LRRC8Achr9

131648400

+GON4Lchr1

155774932

-
5UTR-5UTRENST00000372600ENST00000471341LRRC8Achr9

131648400

+GON4Lchr1

155774932

-
intron-3CDSENST00000372599ENST00000437809LRRC8Achr9

131648400

+GON4Lchr1

155774932

-
intron-3CDSENST00000372599ENST00000368331LRRC8Achr9

131648400

+GON4Lchr1

155774932

-
intron-3CDSENST00000372599ENST00000271883LRRC8Achr9

131648400

+GON4Lchr1

155774932

-
intron-3CDSENST00000372599ENST00000361040LRRC8Achr9

131648400

+GON4Lchr1

155774932

-
intron-5UTRENST00000372599ENST00000471341LRRC8Achr9

131648400

+GON4Lchr1

155774932

-
5UTR-3CDSENST00000259324ENST00000437809LRRC8Achr9

131648400

+GON4Lchr1

155774932

-
5UTR-3CDSENST00000259324ENST00000368331LRRC8Achr9

131648400

+GON4Lchr1

155774932

-
5UTR-3CDSENST00000259324ENST00000271883LRRC8Achr9

131648400

+GON4Lchr1

155774932

-
5UTR-3CDSENST00000259324ENST00000361040LRRC8Achr9

131648400

+GON4Lchr1

155774932

-
5UTR-5UTRENST00000259324ENST00000471341LRRC8Achr9

131648400

+GON4Lchr1

155774932

-
intron-3CDSENST00000492784ENST00000437809LRRC8Achr9

131648400

+GON4Lchr1

155774932

-
intron-3CDSENST00000492784ENST00000368331LRRC8Achr9

131648400

+GON4Lchr1

155774932

-
intron-3CDSENST00000492784ENST00000271883LRRC8Achr9

131648400

+GON4Lchr1

155774932

-
intron-3CDSENST00000492784ENST00000361040LRRC8Achr9

131648400

+GON4Lchr1

155774932

-
intron-5UTRENST00000492784ENST00000471341LRRC8Achr9

131648400

+GON4Lchr1

155774932

-

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FusionProtFeatures for LRRC8A_GON4L


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
LRRC8A

Q8IWT6

GON4L

Q3T8J9

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for LRRC8A_GON4L


check button 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_GON4L


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
LRRC8AELAVL1, SDHA, POPDC2, LGALS8, GPR183, SLC39A4, ZACN, LPAR1, HTR3C, NTRK1, LRRC8B, FADS3, UPK1A, DLK2, GYPB, STS, HTR2C, TMEM30B, C3AR1, IPPK, C5AR2, HTR3AGON4LDHX16, PNKD, HIST1H2BA, KRAS, HIST1H2BG, CRAMP1L, H2AFX, ASB3, TRIM25


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for LRRC8A_GON4L


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for LRRC8A_GON4L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneGON4LC3714756Intellectual Disability1CTD_human