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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: 27188

FusionGeneSummary for PIK3C3_TRPC6

check button Fusion gene summary
Fusion gene informationFusion gene name: PIK3C3_TRPC6
Fusion gene ID: 27188
HgeneTgene
Gene symbol

PIK3C3

TRPC6

Gene ID

5289

7225

Gene namephosphatidylinositol 3-kinase catalytic subunit type 3transient receptor potential cation channel subfamily C member 6
SynonymsVPS34|Vps34|hVps34FSGS2|TRP6
Cytomap

18q12.3

11q22.1

Type of geneprotein-codingprotein-coding
Descriptionphosphatidylinositol 3-kinase catalytic subunit type 3PI3-kinase type 3PI3K type 3PtdIns-3-kinase type 3phosphatidylinositol 3-kinase p100 subunitphosphoinositide-3-kinase, class 3short transient receptor potential channel 6TRP-6focal segmental glomerulosclerosis 2transient receptor protein 6
Modification date2018052320180523
UniProtAcc

Q8NEB9

Q9Y210

Ensembl transtripts involved in fusion geneENST00000262039, ENST00000398870, 
ENST00000586545, ENST00000590220, 
ENST00000593098, ENST00000589056, 
ENST00000587402, ENST00000588156, 
ENST00000587328, 		ENST00000526713, 
ENST00000344327, ENST00000532133, 
ENST00000360497, ENST00000348423, 
Fusion gene scores* DoF score4 X 4 X 3=485 X 2 X 5=50
# samples 45
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/50*10)=0
Context

PubMed: PIK3C3 [Title/Abstract] AND TRPC6 [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
TgeneTRPC6

GO:0032414

positive regulation of ion transmembrane transporter activity

10998353

TgeneTRPC6

GO:0051928

positive regulation of calcium ion transport

10998353


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
TCGARVLUSCTCGA-37-4135-01APIK3C3chr18

39573305

+TRPC6chr11

101375529

-
* 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
5CDS-5UTRENST00000262039ENST00000526713PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
5CDS-5UTRENST00000262039ENST00000344327PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
5CDS-5UTRENST00000262039ENST00000532133PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
5CDS-5UTRENST00000262039ENST00000360497PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
5CDS-5UTRENST00000262039ENST00000348423PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
5CDS-5UTRENST00000398870ENST00000526713PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
5CDS-5UTRENST00000398870ENST00000344327PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
5CDS-5UTRENST00000398870ENST00000532133PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
5CDS-5UTRENST00000398870ENST00000360497PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
5CDS-5UTRENST00000398870ENST00000348423PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000586545ENST00000526713PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000586545ENST00000344327PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000586545ENST00000532133PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000586545ENST00000360497PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000586545ENST00000348423PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000590220ENST00000526713PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000590220ENST00000344327PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000590220ENST00000532133PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000590220ENST00000360497PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000590220ENST00000348423PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000593098ENST00000526713PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000593098ENST00000344327PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000593098ENST00000532133PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000593098ENST00000360497PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000593098ENST00000348423PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000589056ENST00000526713PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000589056ENST00000344327PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000589056ENST00000532133PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000589056ENST00000360497PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000589056ENST00000348423PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000587402ENST00000526713PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000587402ENST00000344327PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000587402ENST00000532133PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000587402ENST00000360497PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000587402ENST00000348423PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000588156ENST00000526713PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000588156ENST00000344327PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000588156ENST00000532133PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000588156ENST00000360497PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000588156ENST00000348423PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000587328ENST00000526713PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000587328ENST00000344327PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000587328ENST00000532133PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000587328ENST00000360497PIK3C3chr18

39573305

+TRPC6chr11

101375529

-
intron-5UTRENST00000587328ENST00000348423PIK3C3chr18

39573305

+TRPC6chr11

101375529

-

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FusionProtFeatures for PIK3C3_TRPC6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PIK3C3

Q8NEB9

TRPC6

Q9Y210

Catalytic subunit of the PI3K complex that mediatesformation of phosphatidylinositol 3-phosphate; different complexforms are believed to play a role in multiple membrane traffickingpathways: PI3KC3-C1 is involved in initiation of autophagosomesand PI3KC3-C2 in maturation of autophagosomes and endocytosis.Involved in regulation of degradative endocytic trafficking andrequired for the abcission step in cytokinesis, probably in thecontext of PI3KC3-C2 (PubMed:20643123, PubMed:20208530). Involvedin the transport of lysosomal enzyme precursors to lysosomes.Required for transport from early to late endosomes (Bysimilarity). {ECO:0000250|UniProtKB:O88763,ECO:0000269|PubMed:14617358, ECO:0000269|PubMed:20208530,ECO:0000269|PubMed:20643123, ECO:0000269|PubMed:7628435,ECO:0000305}. Thought to form a receptor-activated non-selectivecalcium permeant cation channel (PubMed:19936226,PubMed:23291369). Probably is operated by a phosphatidylinositolsecond messenger system activated by receptor tyrosine kinases orG-protein coupled receptors. Activated by diacylglycerol (DAG) ina membrane-delimited fashion, independently of protein kinase C(PubMed:26892346). Seems not to be activated by intracellularcalcium store depletion. {ECO:0000269|PubMed:19936226,ECO:0000269|PubMed:23291369, ECO:0000269|PubMed:26892346}.

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 PIK3C3_TRPC6


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 PIK3C3_TRPC6


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
PIK3C3BECN1, ATG14, MAP1LC3C, PIK3R4, UVRAG, CLPTM1L, NRBF2, KIAA0226, USP11, RAB5A, YWHAG, KRIT1, MYH9, MYH1, KIF1B, DBN1, TRIM28, HSP90AA1, HSPA5, HSPA1A, PRMT5, EXOC8, EXOC2, PARK2, DACT1, RNF2, YWHAQ, AMBRA1, JADE2, SKAP1, NTRK1, USP18, KIAA0226L, LGALS7TRPC6FYN, SRC, TRPC2, ITPR1, TRPC1, TRPC4, TRPC5, TRPC3, TRPC6, TRPC7, ITPR3, RNF24


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 PIK3C3_TRPC6


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 PIK3C3_TRPC6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePIK3C3C0036341Schizophrenia3PSYGENET
HgenePIK3C3C0005586Bipolar Disorder1PSYGENET
TgeneTRPC6C1858915FOCAL SEGMENTAL GLOMERULOSCLEROSIS 23CTD_human;UNIPROT
TgeneTRPC6C0004936Mental disorders1CTD_human
TgeneTRPC6C0020564Hypertrophy1CTD_human