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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: 32203

FusionGeneSummary for RPTOR_CD163

check button Fusion gene summary
Fusion gene informationFusion gene name: RPTOR_CD163
Fusion gene ID: 32203
HgeneTgene
Gene symbol

RPTOR

CD163

Gene ID

57521

9332

Gene nameregulatory associated protein of MTOR complex 1CD163 molecule
SynonymsKOG1|Mip1M130|MM130|SCARI1
Cytomap

17q25.3

12p13.31

Type of geneprotein-codingprotein-coding
Descriptionregulatory-associated protein of mTORp150 target of rapamycin (TOR)-scaffold protein containing WD-repeatsraptorscavenger receptor cysteine-rich type 1 protein M130hemoglobin scavenger receptormacrophage-associated antigen
Modification date2018052320180523
UniProtAcc

Q8N122

Q86VB7

Ensembl transtripts involved in fusion geneENST00000537330, ENST00000570891, 
ENST00000306801, ENST00000544334, 
ENST00000575542, 		ENST00000359156, 
ENST00000541972, ENST00000396620, 
ENST00000432237, ENST00000539632, 
Fusion gene scores* DoF score12 X 8 X 8=7684 X 4 X 3=48
# samples 144
** MAII scorelog2(14/768*10)=-2.45567948377619
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RPTOR [Title/Abstract] AND CD163 [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
HgeneRPTOR

GO:0031929

TOR signaling

20381137

HgeneRPTOR

GO:0032008

positive regulation of TOR signaling

12150926|18439900

HgeneRPTOR

GO:0071233

cellular response to leucine

22424946

HgeneRPTOR

GO:0071902

positive regulation of protein serine/threonine kinase activity

12150926


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
TCGARVUCECTCGA-A5-A3LP-01ARPTORchr17

78599593

+CD163chr12

7655160

-
* 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-3CDSENST00000537330ENST00000359156RPTORchr17

78599593

+CD163chr12

7655160

-
5UTR-3CDSENST00000537330ENST00000541972RPTORchr17

78599593

+CD163chr12

7655160

-
5UTR-3CDSENST00000537330ENST00000396620RPTORchr17

78599593

+CD163chr12

7655160

-
5UTR-3CDSENST00000537330ENST00000432237RPTORchr17

78599593

+CD163chr12

7655160

-
5UTR-intronENST00000537330ENST00000539632RPTORchr17

78599593

+CD163chr12

7655160

-
Frame-shiftENST00000570891ENST00000359156RPTORchr17

78599593

+CD163chr12

7655160

-
Frame-shiftENST00000570891ENST00000541972RPTORchr17

78599593

+CD163chr12

7655160

-
Frame-shiftENST00000570891ENST00000396620RPTORchr17

78599593

+CD163chr12

7655160

-
Frame-shiftENST00000570891ENST00000432237RPTORchr17

78599593

+CD163chr12

7655160

-
5CDS-intronENST00000570891ENST00000539632RPTORchr17

78599593

+CD163chr12

7655160

-
Frame-shiftENST00000306801ENST00000359156RPTORchr17

78599593

+CD163chr12

7655160

-
Frame-shiftENST00000306801ENST00000541972RPTORchr17

78599593

+CD163chr12

7655160

-
Frame-shiftENST00000306801ENST00000396620RPTORchr17

78599593

+CD163chr12

7655160

-
Frame-shiftENST00000306801ENST00000432237RPTORchr17

78599593

+CD163chr12

7655160

-
5CDS-intronENST00000306801ENST00000539632RPTORchr17

78599593

+CD163chr12

7655160

-
Frame-shiftENST00000544334ENST00000359156RPTORchr17

78599593

+CD163chr12

7655160

-
Frame-shiftENST00000544334ENST00000541972RPTORchr17

78599593

+CD163chr12

7655160

-
Frame-shiftENST00000544334ENST00000396620RPTORchr17

78599593

+CD163chr12

7655160

-
Frame-shiftENST00000544334ENST00000432237RPTORchr17

78599593

+CD163chr12

7655160

-
5CDS-intronENST00000544334ENST00000539632RPTORchr17

78599593

+CD163chr12

7655160

-
intron-3CDSENST00000575542ENST00000359156RPTORchr17

78599593

+CD163chr12

7655160

-
intron-3CDSENST00000575542ENST00000541972RPTORchr17

78599593

+CD163chr12

7655160

-
intron-3CDSENST00000575542ENST00000396620RPTORchr17

78599593

+CD163chr12

7655160

-
intron-3CDSENST00000575542ENST00000432237RPTORchr17

78599593

+CD163chr12

7655160

-
intron-intronENST00000575542ENST00000539632RPTORchr17

78599593

+CD163chr12

7655160

-

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FusionProtFeatures for RPTOR_CD163


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

Q8N122

CD163

Q86VB7

Involved in the control of the mammalian target ofrapamycin complex 1 (mTORC1) activity which regulates cell growthand survival, and autophagy in response to nutrient and hormonalsignals; functions as a scaffold for recruiting mTORC1 substrates.mTORC1 is activated in response to growth factors or amino acids.Growth factor-stimulated mTORC1 activation involves a AKT1-mediated phosphorylation of TSC1-TSC2, which leads to theactivation of the RHEB GTPase that potently activates the proteinkinase activity of mTORC1. Amino acid-signaling to mTORC1 requiresits relocalization to the lysosomes mediated by the Ragulatorcomplex and the Rag GTPases. Activated mTORC1 up-regulates proteinsynthesis by phosphorylating key regulators of mRNA translationand ribosome synthesis. mTORC1 phosphorylates EIF4EBP1 andreleases it from inhibiting the elongation initiation factor 4E(eiF4E). mTORC1 phosphorylates and activates S6K1 at 'Thr-389',which then promotes protein synthesis by phosphorylating PDCD4 andtargeting it for degradation. Involved in ciliogenesis.{ECO:0000269|PubMed:12150925, ECO:0000269|PubMed:12150926,ECO:0000269|PubMed:23727834}. Acute phase-regulated receptor involved in clearance andendocytosis of hemoglobin/haptoglobin complexes by macrophages andmay thereby protect tissues from free hemoglobin-mediatedoxidative damage. May play a role in the uptake and recycling ofiron, via endocytosis of hemoglobin/haptoglobin and subsequentbreakdown of heme. Binds hemoglobin/haptoglobin complexes in acalcium-dependent and pH-dependent manner. Exhibits a higheraffinity for complexes of hemoglobin and multimeric haptoglobin ofHP*1F phenotype than for complexes of hemoglobin and dimerichaptoglobin of HP*1S phenotype. Induces a cascade of intracellularsignals that involves tyrosine kinase-dependent calciummobilization, inositol triphosphate production and secretion ofIL6 and CSF1. Isoform 3 exhibits the higher capacity for ligandendocytosis and the more pronounced surface expression whenexpressed in cells. After shedding, the soluble form (sCD163) may play ananti-inflammatory role, and may be a valuable diagnostic parameterfor monitoring macrophage activation in inflammatory conditions.

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 RPTOR_CD163


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 RPTOR_CD163


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
RPTORMTOR, FKBP1A, EIF4EBP1, GDI2P1, PLD2, RPS6KB1, PDK1, RHEB, EIF3B, EIF3C, MLST8, RRAGA, RRAGC, RPS6, TIRAP, IQGAP1, USP9X, PRKAA1, PRKAA2, YWHAQ, SQSTM1, RRAGB, MAPK8, ICK, CCNB1, AKT1S1, DEPTOR, IRS1, EIF4E, MAPK3, MAPK1, HSPA4, ULK1, RICTOR, RPS6KA1, IRS2, RRAGD, HIF1A, CUL4A, CUL4B, DDB1, UCHL1, SIRT1, PREX1, LARS, RPTOR, AKT1, PDIA3, MARK4, AMBRA1, TRAF6, FKBP8, GNB1, GNG2, RAP1B, CHUK, IKBKB, IKBKG, SGK1, MOV10, NXF1, LAMTOR2, GTF3C1, TXNDC15, NT5E, BAG3, FAF2, HTR6, EIF4EBP2, SCAP, NTRK1, XPO1, RAB1A, PARK2, BRAT1, MTMR3, NFATC1, NFATC2, ZNRF2, INTU, IQCF1, CD79B, TPP1, CCT7, DKKL1, IL13RA2, PDCD1, TRIB2, PMEL, BRAF, NTRK3, CT55, CCDC6, KCTD3, KIF13B, ZBTB21, KSR1, GIGYF1, LRFN1, CGN, DENND1A, SH3PXD2A, SRGAP2, RTKN, MAST3, DENND4C, EIF4E2, SIPA1L1, PPM1H, LIMA1, MAGI1, TESK2, DCLK1, ZNF638, LPIN3, CBY1, INPP5E, ESR1, TRIM25, BRCA1, EP300CD163CSNK2B, ATP4A


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 RPTOR_CD163


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 RPTOR_CD163


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRPTORC0040336Tobacco Use Disorder1CTD_human
TgeneCD163C0000786Spontaneous abortion1CTD_human
TgeneCD163C0007273Carotid Artery Diseases1CTD_human
TgeneCD163C0017661IGA Glomerulonephritis1CTD_human
TgeneCD163C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneCD163C0036341Schizophrenia1PSYGENET