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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: 20074

FusionGeneSummary for LRCH1_PIK3R1

check button Fusion gene summary
Fusion gene informationFusion gene name: LRCH1_PIK3R1
Fusion gene ID: 20074
HgeneTgene
Gene symbol

LRCH1

PIK3R1

Gene ID

23143

5295

Gene nameleucine rich repeats and calponin homology domain containing 1phosphoinositide-3-kinase regulatory subunit 1
SynonymsCHDC1|NP81AGM7|GRB1|IMD36|p85|p85-ALPHA
Cytomap

13q14.13-q14.2

5q13.1

Type of geneprotein-codingprotein-coding
Descriptionleucine-rich repeat and calponin homology domain-containing protein 1leucine-rich repeats and calponin homology (CH) domain containing 1neuronal protein 81phosphatidylinositol 3-kinase regulatory subunit alphaPI3-kinase subunit p85-alphaPI3K regulatory subunit alphaphosphatidylinositol 3-kinase 85 kDa regulatory subunit alphaphosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1 (p85 alpha)ph
Modification date2018052320180523
UniProtAcc

Q9Y2L9

P27986

Ensembl transtripts involved in fusion geneENST00000311191, ENST00000389798, 
ENST00000389797, 
ENST00000521381, 
ENST00000521657, ENST00000517643, 
ENST00000274335, ENST00000396611, 
ENST00000320694, ENST00000336483, 
ENST00000523872, 
Fusion gene scores* DoF score6 X 5 X 4=1206 X 6 X 3=108
# samples 66
** MAII scorelog2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: LRCH1 [Title/Abstract] AND PIK3R1 [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
HgeneLRCH1

GO:0034260

negative regulation of GTPase activity

28028151

TgenePIK3R1

GO:0014065

phosphatidylinositol 3-kinase signaling

7782332

TgenePIK3R1

GO:0034976

response to endoplasmic reticulum stress

20348923

TgenePIK3R1

GO:0042307

positive regulation of protein import into nucleus

20348923

TgenePIK3R1

GO:0048009

insulin-like growth factor receptor signaling pathway

7782332

TgenePIK3R1

GO:0050821

protein stabilization

20348923

TgenePIK3R1

GO:0060396

growth hormone receptor signaling pathway

7782332


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
ChiTaRS3.1BF849250LRCH1chr13

47155523

+PIK3R1chr5

67593268

+
* 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
intron-3CDSENST00000311191ENST00000521381LRCH1chr13

47155523

+PIK3R1chr5

67593268

+
intron-3CDSENST00000311191ENST00000521657LRCH1chr13

47155523

+PIK3R1chr5

67593268

+
intron-intronENST00000311191ENST00000517643LRCH1chr13

47155523

+PIK3R1chr5

67593268

+
intron-intronENST00000311191ENST00000274335LRCH1chr13

47155523

+PIK3R1chr5

67593268

+
intron-intronENST00000311191ENST00000396611LRCH1chr13

47155523

+PIK3R1chr5

67593268

+
intron-intronENST00000311191ENST00000320694LRCH1chr13

47155523

+PIK3R1chr5

67593268

+
intron-intronENST00000311191ENST00000336483LRCH1chr13

47155523

+PIK3R1chr5

67593268

+
intron-intronENST00000311191ENST00000523872LRCH1chr13

47155523

+PIK3R1chr5

67593268

+
intron-3CDSENST00000389798ENST00000521381LRCH1chr13

47155523

+PIK3R1chr5

67593268

+
intron-3CDSENST00000389798ENST00000521657LRCH1chr13

47155523

+PIK3R1chr5

67593268

+
intron-intronENST00000389798ENST00000517643LRCH1chr13

47155523

+PIK3R1chr5

67593268

+
intron-intronENST00000389798ENST00000274335LRCH1chr13

47155523

+PIK3R1chr5

67593268

+
intron-intronENST00000389798ENST00000396611LRCH1chr13

47155523

+PIK3R1chr5

67593268

+
intron-intronENST00000389798ENST00000320694LRCH1chr13

47155523

+PIK3R1chr5

67593268

+
intron-intronENST00000389798ENST00000336483LRCH1chr13

47155523

+PIK3R1chr5

67593268

+
intron-intronENST00000389798ENST00000523872LRCH1chr13

47155523

+PIK3R1chr5

67593268

+
intron-3CDSENST00000389797ENST00000521381LRCH1chr13

47155523

+PIK3R1chr5

67593268

+
intron-3CDSENST00000389797ENST00000521657LRCH1chr13

47155523

+PIK3R1chr5

67593268

+
intron-intronENST00000389797ENST00000517643LRCH1chr13

47155523

+PIK3R1chr5

67593268

+
intron-intronENST00000389797ENST00000274335LRCH1chr13

47155523

+PIK3R1chr5

67593268

+
intron-intronENST00000389797ENST00000396611LRCH1chr13

47155523

+PIK3R1chr5

67593268

+
intron-intronENST00000389797ENST00000320694LRCH1chr13

47155523

+PIK3R1chr5

67593268

+
intron-intronENST00000389797ENST00000336483LRCH1chr13

47155523

+PIK3R1chr5

67593268

+
intron-intronENST00000389797ENST00000523872LRCH1chr13

47155523

+PIK3R1chr5

67593268

+

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FusionProtFeatures for LRCH1_PIK3R1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
LRCH1

Q9Y2L9

PIK3R1

P27986

Acts as a negative regulator of GTPase CDC42 bysequestering CDC42-guanine exchange factor DOCK8. Probably bypreventing CDC42 activation, negatively regulates CD4(+) T-cellmigration. {ECO:0000269|PubMed:28028151}.

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 LRCH1_PIK3R1


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 LRCH1_PIK3R1


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


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 LRCH1_PIK3R1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgenePIK3R1P27986DB01064IsoprenalinePhosphatidylinositol 3-kinase regulatory subunit alphasmall moleculeapproved|investigational

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RelatedDiseases for LRCH1_PIK3R1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePIK3R1C0001973Alcoholic Intoxication, Chronic2PSYGENET
TgenePIK3R1C0878684SHORT syndrome2ORPHANET;UNIPROT
TgenePIK3R1C0006413Burkitt Lymphoma1CTD_human
TgenePIK3R1C0021655Insulin Resistance1CTD_human
TgenePIK3R1C0024667Animal Mammary Neoplasms1CTD_human
TgenePIK3R1C0024668Mammary Neoplasms, Experimental1CTD_human