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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: 27035

FusionGeneSummary for PHYHD1_LRRC8A

check button Fusion gene summary
Fusion gene informationFusion gene name: PHYHD1_LRRC8A
Fusion gene ID: 27035
HgeneTgene
Gene symbol

PHYHD1

LRRC8A

Gene ID

254295

56262

Gene namephytanoyl-CoA dioxygenase domain containing 1leucine rich repeat containing 8 VRAC subunit A
Synonyms-AGM5|LRRC8|SWELL1
Cytomap

9q34.11

9q34.11

Type of geneprotein-codingprotein-coding
Descriptionphytanoyl-CoA dioxygenase domain-containing protein 1volume-regulated anion channel subunit LRRC8Aleucine rich repeat containing 8 family member Aleucine-rich repeat-containing protein 8Aswelling protein 1
Modification date2018051920180523
UniProtAcc

Q5SRE7

Q8IWT6

Ensembl transtripts involved in fusion geneENST00000372592, ENST00000308941, 
ENST00000353176, ENST00000421063, 
ENST00000487504, 		ENST00000372600, 
ENST00000372599, ENST00000259324, 
ENST00000492784, 
Fusion gene scores* DoF score2 X 3 X 2=122 X 3 X 2=12
# samples 33
** MAII scorelog2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PHYHD1 [Title/Abstract] AND LRRC8A [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
TCGALDBRCATCGA-AN-A0XU-01APHYHD1chr9

131689475

+LRRC8Achr9

131678375

+
ChiTaRS3.1AI879160PHYHD1chr9

131689477

+LRRC8Achr9

131669434

+
* 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
In-frameENST00000372592ENST00000372600PHYHD1chr9

131689475

+LRRC8Achr9

131678375

+
In-frameENST00000372592ENST00000372599PHYHD1chr9

131689475

+LRRC8Achr9

131678375

+
Frame-shiftENST00000372592ENST00000259324PHYHD1chr9

131689475

+LRRC8Achr9

131678375

+
5CDS-3UTRENST00000372592ENST00000492784PHYHD1chr9

131689475

+LRRC8Achr9

131678375

+
In-frameENST00000308941ENST00000372600PHYHD1chr9

131689475

+LRRC8Achr9

131678375

+
In-frameENST00000308941ENST00000372599PHYHD1chr9

131689475

+LRRC8Achr9

131678375

+
Frame-shiftENST00000308941ENST00000259324PHYHD1chr9

131689475

+LRRC8Achr9

131678375

+
5CDS-3UTRENST00000308941ENST00000492784PHYHD1chr9

131689475

+LRRC8Achr9

131678375

+
In-frameENST00000353176ENST00000372600PHYHD1chr9

131689475

+LRRC8Achr9

131678375

+
In-frameENST00000353176ENST00000372599PHYHD1chr9

131689475

+LRRC8Achr9

131678375

+
Frame-shiftENST00000353176ENST00000259324PHYHD1chr9

131689475

+LRRC8Achr9

131678375

+
5CDS-3UTRENST00000353176ENST00000492784PHYHD1chr9

131689475

+LRRC8Achr9

131678375

+
In-frameENST00000421063ENST00000372600PHYHD1chr9

131689475

+LRRC8Achr9

131678375

+
In-frameENST00000421063ENST00000372599PHYHD1chr9

131689475

+LRRC8Achr9

131678375

+
Frame-shiftENST00000421063ENST00000259324PHYHD1chr9

131689475

+LRRC8Achr9

131678375

+
5CDS-3UTRENST00000421063ENST00000492784PHYHD1chr9

131689475

+LRRC8Achr9

131678375

+
intron-3CDSENST00000487504ENST00000372600PHYHD1chr9

131689475

+LRRC8Achr9

131678375

+
intron-3CDSENST00000487504ENST00000372599PHYHD1chr9

131689475

+LRRC8Achr9

131678375

+
intron-3CDSENST00000487504ENST00000259324PHYHD1chr9

131689475

+LRRC8Achr9

131678375

+
intron-3UTRENST00000487504ENST00000492784PHYHD1chr9

131689475

+LRRC8Achr9

131678375

+
5CDS-5UTRENST00000372592ENST00000372600PHYHD1chr9

131689477

+LRRC8Achr9

131669434

+
5CDS-5UTRENST00000372592ENST00000372599PHYHD1chr9

131689477

+LRRC8Achr9

131669434

+
5CDS-5UTRENST00000372592ENST00000259324PHYHD1chr9

131689477

+LRRC8Achr9

131669434

+
5CDS-intronENST00000372592ENST00000492784PHYHD1chr9

131689477

+LRRC8Achr9

131669434

+
5CDS-5UTRENST00000308941ENST00000372600PHYHD1chr9

131689477

+LRRC8Achr9

131669434

+
5CDS-5UTRENST00000308941ENST00000372599PHYHD1chr9

131689477

+LRRC8Achr9

131669434

+
5CDS-5UTRENST00000308941ENST00000259324PHYHD1chr9

131689477

+LRRC8Achr9

131669434

+
5CDS-intronENST00000308941ENST00000492784PHYHD1chr9

131689477

+LRRC8Achr9

131669434

+
5CDS-5UTRENST00000353176ENST00000372600PHYHD1chr9

131689477

+LRRC8Achr9

131669434

+
5CDS-5UTRENST00000353176ENST00000372599PHYHD1chr9

131689477

+LRRC8Achr9

131669434

+
5CDS-5UTRENST00000353176ENST00000259324PHYHD1chr9

131689477

+LRRC8Achr9

131669434

+
5CDS-intronENST00000353176ENST00000492784PHYHD1chr9

131689477

+LRRC8Achr9

131669434

+
5CDS-5UTRENST00000421063ENST00000372600PHYHD1chr9

131689477

+LRRC8Achr9

131669434

+
5CDS-5UTRENST00000421063ENST00000372599PHYHD1chr9

131689477

+LRRC8Achr9

131669434

+
5CDS-5UTRENST00000421063ENST00000259324PHYHD1chr9

131689477

+LRRC8Achr9

131669434

+
5CDS-intronENST00000421063ENST00000492784PHYHD1chr9

131689477

+LRRC8Achr9

131669434

+
intron-5UTRENST00000487504ENST00000372600PHYHD1chr9

131689477

+LRRC8Achr9

131669434

+
intron-5UTRENST00000487504ENST00000372599PHYHD1chr9

131689477

+LRRC8Achr9

131669434

+
intron-5UTRENST00000487504ENST00000259324PHYHD1chr9

131689477

+LRRC8Achr9

131669434

+
intron-intronENST00000487504ENST00000492784PHYHD1chr9

131689477

+LRRC8Achr9

131669434

+

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FusionProtFeatures for PHYHD1_LRRC8A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PHYHD1

Q5SRE7

LRRC8A

Q8IWT6

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
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000259324+24732_753719811RepeatLRR 15
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000259324+24754_776719811RepeatLRR 16
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000259324+24778_801719811RepeatLRR 17
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372599+13732_753719811RepeatLRR 15
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372599+13754_776719811RepeatLRR 16
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372599+13778_801719811RepeatLRR 17
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372600+24732_753719811RepeatLRR 15
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372600+24754_776719811RepeatLRR 16
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372600+24778_801719811RepeatLRR 17

- In-frame and not-retained protein feature among the 13 regional features.
>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePHYHD1chr9:131689475chr9:131678375ENST00000308941+412156_15864298RegionAlpha-ketoglutarate binding
HgenePHYHD1chr9:131689475chr9:131678375ENST00000353176+412156_15864271RegionAlpha-ketoglutarate binding
HgenePHYHD1chr9:131689475chr9:131678375ENST00000372592+413156_15864292RegionAlpha-ketoglutarate binding
HgenePHYHD1chr9:131689475chr9:131678375ENST00000421063+210156_15864271RegionAlpha-ketoglutarate binding
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000259324+24399_422719811RepeatLRR 1
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000259324+24423_445719811RepeatLRR 2
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000259324+24447_468719811RepeatLRR 3
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000259324+24469_492719811RepeatLRR 4
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000259324+24493_515719811RepeatLRR 5
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000259324+24518_542719811RepeatLRR 6
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000259324+24543_565719811RepeatLRR 7
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000259324+24567_589719811RepeatLRR 8
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000259324+24590_613719811RepeatLRR 9
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000259324+24615_637719811RepeatLRR 10
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000259324+24639_661719811RepeatLRR 11
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000259324+24662_684719811RepeatLRR 12
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000259324+24686_707719811RepeatLRR 13
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000259324+24708_730719811RepeatLRR 14
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372599+13399_422719811RepeatLRR 1
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372599+13423_445719811RepeatLRR 2
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372599+13447_468719811RepeatLRR 3
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372599+13469_492719811RepeatLRR 4
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372599+13493_515719811RepeatLRR 5
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372599+13518_542719811RepeatLRR 6
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372599+13543_565719811RepeatLRR 7
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372599+13567_589719811RepeatLRR 8
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372599+13590_613719811RepeatLRR 9
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372599+13615_637719811RepeatLRR 10
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372599+13639_661719811RepeatLRR 11
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372599+13662_684719811RepeatLRR 12
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372599+13686_707719811RepeatLRR 13
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372599+13708_730719811RepeatLRR 14
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372600+24399_422719811RepeatLRR 1
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372600+24423_445719811RepeatLRR 2
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372600+24447_468719811RepeatLRR 3
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372600+24469_492719811RepeatLRR 4
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372600+24493_515719811RepeatLRR 5
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372600+24518_542719811RepeatLRR 6
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372600+24543_565719811RepeatLRR 7
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372600+24567_589719811RepeatLRR 8
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372600+24590_613719811RepeatLRR 9
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372600+24615_637719811RepeatLRR 10
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372600+24639_661719811RepeatLRR 11
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372600+24662_684719811RepeatLRR 12
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372600+24686_707719811RepeatLRR 13
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372600+24708_730719811RepeatLRR 14
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000259324+24147_262719811Topological domainCytoplasmic
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000259324+241_22719811Topological domainCytoplasmic
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000259324+24286_319719811Topological domainExtracellular
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000259324+24343_810719811Topological domainCytoplasmic
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000259324+2444_123719811Topological domainExtracellular
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372599+13147_262719811Topological domainCytoplasmic
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372599+131_22719811Topological domainCytoplasmic
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372599+13286_319719811Topological domainExtracellular
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372599+13343_810719811Topological domainCytoplasmic
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372599+1344_123719811Topological domainExtracellular
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372600+24147_262719811Topological domainCytoplasmic
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372600+241_22719811Topological domainCytoplasmic
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372600+24286_319719811Topological domainExtracellular
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372600+24343_810719811Topological domainCytoplasmic
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372600+2444_123719811Topological domainExtracellular
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000259324+24124_146719811TransmembraneHelical
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000259324+2423_43719811TransmembraneHelical
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000259324+24263_285719811TransmembraneHelical
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000259324+24320_342719811TransmembraneHelical
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372599+13124_146719811TransmembraneHelical
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372599+1323_43719811TransmembraneHelical
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372599+13263_285719811TransmembraneHelical
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372599+13320_342719811TransmembraneHelical
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372600+24124_146719811TransmembraneHelical
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372600+2423_43719811TransmembraneHelical
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372600+24263_285719811TransmembraneHelical
TgeneLRRC8Achr9:131689475chr9:131678375ENST00000372600+24320_342719811TransmembraneHelical


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FusionGeneSequence for PHYHD1_LRRC8A


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 PHYHD1_LRRC8A


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
PHYHD1POT1, APP, HNRNPLLLRRC8AELAVL1, SDHA, POPDC2, LGALS8, GPR183, SLC39A4, ZACN, LPAR1, HTR3C, NTRK1, LRRC8B, FADS3, UPK1A, DLK2, GYPB, STS, HTR2C, TMEM30B, C3AR1, IPPK, C5AR2, HTR3A


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 PHYHD1_LRRC8A


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 PHYHD1_LRRC8A


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