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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: 27205

FusionGeneSummary for PIK3R1_MRPL42

check button Fusion gene summary
Fusion gene informationFusion gene name: PIK3R1_MRPL42
Fusion gene ID: 27205
HgeneTgene
Gene symbol

PIK3R1

MRPL42

Gene ID

5295

28977

Gene namephosphoinositide-3-kinase regulatory subunit 1mitochondrial ribosomal protein L42
SynonymsAGM7|GRB1|IMD36|p85|p85-ALPHAHSPC204|L31MT|L42MT|MRP-L31|MRP-L42|MRP-S32|MRPL31|MRPS32|PTD007|RPML31|S32MT
Cytomap

5q13.1

12q22

Type of geneprotein-codingprotein-coding
Descriptionphosphatidylinositol 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)ph39S ribosomal protein L42, mitochondrial28S ribosomal protein S32, mitochondrial39S ribosomal protein L31, mitochondrialmitochondrial large ribosomal subunit protein mL42
Modification date2018052320180523
UniProtAcc

P27986

Q9Y6G3

Ensembl transtripts involved in fusion geneENST00000521381, ENST00000521657, 
ENST00000517643, ENST00000274335, 
ENST00000396611, ENST00000320694, 
ENST00000336483, ENST00000523872, 
ENST00000549982, ENST00000361630, 
ENST00000552217, ENST00000393128, 
ENST00000547098, ENST00000548545, 
ENST00000552938, 
Fusion gene scores* DoF score5 X 3 X 5=756 X 3 X 6=108
# samples 58
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/108*10)=-0.432959407276106
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PIK3R1 [Title/Abstract] AND MRPL42 [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
HgenePIK3R1

GO:0014065

phosphatidylinositol 3-kinase signaling

7782332

HgenePIK3R1

GO:0034976

response to endoplasmic reticulum stress

20348923

HgenePIK3R1

GO:0042307

positive regulation of protein import into nucleus

20348923

HgenePIK3R1

GO:0048009

insulin-like growth factor receptor signaling pathway

7782332

HgenePIK3R1

GO:0050821

protein stabilization

20348923

HgenePIK3R1

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
TCGARVPRADTCGA-YL-A9WY-01APIK3R1chr5

67522837

+MRPL42chr12

93862965

+
* 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-5UTRENST00000521381ENST00000549982PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
5CDS-5UTRENST00000521381ENST00000361630PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
5CDS-5UTRENST00000521381ENST00000552217PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
5CDS-5UTRENST00000521381ENST00000393128PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
5CDS-5UTRENST00000521381ENST00000547098PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
5CDS-intronENST00000521381ENST00000548545PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
5CDS-intronENST00000521381ENST00000552938PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
5CDS-5UTRENST00000521657ENST00000549982PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
5CDS-5UTRENST00000521657ENST00000361630PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
5CDS-5UTRENST00000521657ENST00000552217PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
5CDS-5UTRENST00000521657ENST00000393128PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
5CDS-5UTRENST00000521657ENST00000547098PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
5CDS-intronENST00000521657ENST00000548545PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
5CDS-intronENST00000521657ENST00000552938PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
intron-5UTRENST00000517643ENST00000549982PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
intron-5UTRENST00000517643ENST00000361630PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
intron-5UTRENST00000517643ENST00000552217PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
intron-5UTRENST00000517643ENST00000393128PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
intron-5UTRENST00000517643ENST00000547098PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
intron-intronENST00000517643ENST00000548545PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
intron-intronENST00000517643ENST00000552938PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
5CDS-5UTRENST00000274335ENST00000549982PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
5CDS-5UTRENST00000274335ENST00000361630PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
5CDS-5UTRENST00000274335ENST00000552217PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
5CDS-5UTRENST00000274335ENST00000393128PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
5CDS-5UTRENST00000274335ENST00000547098PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
5CDS-intronENST00000274335ENST00000548545PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
5CDS-intronENST00000274335ENST00000552938PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
5CDS-5UTRENST00000396611ENST00000549982PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
5CDS-5UTRENST00000396611ENST00000361630PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
5CDS-5UTRENST00000396611ENST00000552217PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
5CDS-5UTRENST00000396611ENST00000393128PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
5CDS-5UTRENST00000396611ENST00000547098PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
5CDS-intronENST00000396611ENST00000548545PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
5CDS-intronENST00000396611ENST00000552938PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
intron-5UTRENST00000320694ENST00000549982PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
intron-5UTRENST00000320694ENST00000361630PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
intron-5UTRENST00000320694ENST00000552217PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
intron-5UTRENST00000320694ENST00000393128PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
intron-5UTRENST00000320694ENST00000547098PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
intron-intronENST00000320694ENST00000548545PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
intron-intronENST00000320694ENST00000552938PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
intron-5UTRENST00000336483ENST00000549982PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
intron-5UTRENST00000336483ENST00000361630PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
intron-5UTRENST00000336483ENST00000552217PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
intron-5UTRENST00000336483ENST00000393128PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
intron-5UTRENST00000336483ENST00000547098PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
intron-intronENST00000336483ENST00000548545PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
intron-intronENST00000336483ENST00000552938PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
intron-5UTRENST00000523872ENST00000549982PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
intron-5UTRENST00000523872ENST00000361630PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
intron-5UTRENST00000523872ENST00000552217PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
intron-5UTRENST00000523872ENST00000393128PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
intron-5UTRENST00000523872ENST00000547098PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
intron-intronENST00000523872ENST00000548545PIK3R1chr5

67522837

+MRPL42chr12

93862965

+
intron-intronENST00000523872ENST00000552938PIK3R1chr5

67522837

+MRPL42chr12

93862965

+

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FusionProtFeatures for PIK3R1_MRPL42


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PIK3R1

P27986

MRPL42

Q9Y6G3


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 PIK3R1_MRPL42


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 PIK3R1_MRPL42


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
PIK3R1LCP2, CTNNB1, SRC, ABL1, FYN, LCK, PIK3R1, SHC1, GNAQ, WAS, IRS2, FCGR2A, VAV1, GAB1, IRS1, PIK3CA, RRAS2, KIT, AXL, DOK1, EPOR, KHDRBS1, CBLB, IL1R1, EZR, BCAR1, CD28, LAT, PIK3CD, GRB2, ERBB3, PTPN6, CD3E, EPHA2, ARHGAP17, ARAF, IFNAR1, TYRO3, ARHGAP32, CSF2RA, NFKBIA, GAB2, TUBA1B, TGFBR1, TGFBR2, HRAS, PTK2, AGAP2, PECAM1, CBL, CRKL, CD7, ARHGAP1, FES, SH3KBP1, PTPN11, INPP5D, PIK3CB, ADAM12, IL6ST, HCST, ESR1, SHB, NTRK2, SYN1, PDGFRB, LTK, FGFR2, NPM1, SOCS6, PXK, YWHAG, EGFR, ADAMTS2, CXCL2, CYP4A11, TTR, HDAC3, ITSN1, SYNM, RAB5A, ERBB2, CRK, NCK1, CSF1R, SYK, ZAP70, FLT3, PDGFRA, CUL3, GRB10, BRCA1, JAK2, ALK, SELPLG, TNIP1, CMIP, INPPL1, PIK3R2, EP300, HTT, MED28, ABI1, APPL1, TNFRSF1A, FBXL2, TLR3, DAB2IP, MAP3K5, DLX2, GSPT1, HOXA1, CCL14, CD40, ALOX5, EPN1, IRS4, NCL, ZDHHC17, SQSTM1, SIRT1, EFNB2, CD244, VSIG4, PRMT2, PTGER3, PCBP1, NTRK1, CLNK, SH2D2A, SOCS1, STAT3, TNS4, FER, PDE4D, TMEM17, CHAF1A, NYAP2, FASLG, FGFR1, IGF1R, PLCG2, SOS1, PXN, RXRA, FLT1, RASD2, DNM2, CD247, KBTBD2, WEE1, VHL, MAPT, AKT1, GNB1, ACTA1, BCR, PTPRK, FLRT1, PIK3R3, DEFA5, RNF19B, SNX32, NLGN3, HAVCR2, IL20RA, PROM1, NYAP1, MYO16, FAS, NISCH, PTTG1, WDR26MRPL42IKBKAP, EEF1A1, MRPL40, MRPL32, MRPL13, MRPS9, MRPL23, MRPL3, MRPS26, MRPL41, MRPL12, MRPL37, MRPL44, MRPS35, MRPS28, ILF3, HNRNPR, HNRNPU, CYB5B, ICT1, DDX28, FUBP1, HNRNPC, ATP5F1, DLD, MRPL43, RPL13, RPL6, MRPL4, MRPL39, CASQ2, MRPS30, MRPL47, MRPL50, MRPL9, MRPL1, MRPL10, MRPL51, MRPL21, GATC, MRPL45, GADD45GIP1, MRPL11, MRPL38, MRPL27, MRPL30, MRPL49, MRPL28, MRPL55, MRPL24, MRPL20, MRPL35, SIRT3, MRPL22, MRPL57, MRPL2, MALSU1, MRPL17, RNMTL1, MRPL33, MRPL16, MRPS18A, MRPL15, MRPL19, MRPL48, NGRN, MRPL34, MRPL18, MRPL46, ACAA1


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 PIK3R1_MRPL42


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePIK3R1P27986DB01064IsoprenalinePhosphatidylinositol 3-kinase regulatory subunit alphasmall moleculeapproved|investigational

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RelatedDiseases for PIK3R1_MRPL42


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePIK3R1C0001973Alcoholic Intoxication, Chronic2PSYGENET
HgenePIK3R1C0878684SHORT syndrome2ORPHANET;UNIPROT
HgenePIK3R1C0006413Burkitt Lymphoma1CTD_human
HgenePIK3R1C0021655Insulin Resistance1CTD_human
HgenePIK3R1C0024667Animal Mammary Neoplasms1CTD_human
HgenePIK3R1C0024668Mammary Neoplasms, Experimental1CTD_human