FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 22815

FusionGeneSummary for MTOR_CR1

check button Fusion gene summary
Fusion gene informationFusion gene name: MTOR_CR1
Fusion gene ID: 22815
HgeneTgene
Gene symbol

MTOR

CR1

Gene ID

2475

1378

Gene namemechanistic target of rapamycin kinasecomplement C3b/C4b receptor 1 (Knops blood group)
SynonymsFRAP|FRAP1|FRAP2|RAFT1|RAPT1|SKSC3BR|C4BR|CD35|KN
Cytomap

1p36.22

1q32.2

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein kinase mTORFK506 binding protein 12-rapamycin associated protein 2FK506-binding protein 12-rapamycin complex-associated protein 1FKBP-rapamycin associated proteinFKBP12-rapamycin complex-associated protein 1mammalian target ocomplement receptor type 1C3-binding proteinC3b/C4b receptorCD35 antigenKnops blood group antigencomplement component (3b/4b) receptor 1 (Knops blood group)complement receptor 1
Modification date2018052720180519
UniProtAcc

P42345

P17927

Ensembl transtripts involved in fusion geneENST00000361445, ENST00000376838, 
ENST00000495435, 
ENST00000367053, 
ENST00000367052, ENST00000367051, 
ENST00000400960, ENST00000367049, 
ENST00000367050, 
Fusion gene scores* DoF score8 X 7 X 6=3361 X 1 X 1=1
# samples 71
** MAII scorelog2(7/336*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: MTOR [Title/Abstract] AND CR1 [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
HgeneMTOR

GO:0001558

regulation of cell growth

18762023

HgeneMTOR

GO:0001934

positive regulation of protein phosphorylation

20233713

HgeneMTOR

GO:0006468

protein phosphorylation

12150926|15467718|18925875

HgeneMTOR

GO:0009267

cellular response to starvation

28223137

HgeneMTOR

GO:0016242

negative regulation of macroautophagy

25327288

HgeneMTOR

GO:0016310

phosphorylation

11853878|25327288

HgeneMTOR

GO:0034198

cellular response to amino acid starvation

22424946

HgeneMTOR

GO:0038202

TORC1 signaling

28223137

HgeneMTOR

GO:0043200

response to amino acid

18497260

HgeneMTOR

GO:0045727

positive regulation of translation

18762023

HgeneMTOR

GO:0046777

protein autophosphorylation

15467718

HgeneMTOR

GO:0071230

cellular response to amino acid stimulus

22424946

HgeneMTOR

GO:0071233

cellular response to leucine

22424946

HgeneMTOR

GO:1990253

cellular response to leucine starvation

22424946

TgeneCR1

GO:0045957

negative regulation of complement activation, alternative pathway

10531307

TgeneCR1

GO:0045959

negative regulation of complement activation, classical pathway

6910481|10531307

TgeneCR1

GO:1900004

negative regulation of serine-type endopeptidase activity

6910481

TgeneCR1

GO:1900005

positive regulation of serine-type endopeptidase activity

2972794


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
TCGALDLGGTCGA-HT-A5RA-01AMTORchr1

11288725

-CR1chr1

207684914

+
* 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
Frame-shitENST00000361445ENST00000367053MTORchr1

11288725

-CR1chr1

207684914

+
Frame-shitENST00000361445ENST00000367052MTORchr1

11288725

-CR1chr1

207684914

+
Frame-shitENST00000361445ENST00000367051MTORchr1

11288725

-CR1chr1

207684914

+
Frame-shitENST00000361445ENST00000400960MTORchr1

11288725

-CR1chr1

207684914

+
Frame-shitENST00000361445ENST00000367049MTORchr1

11288725

-CR1chr1

207684914

+
5CDS-3UTRENST00000361445ENST00000367050MTORchr1

11288725

-CR1chr1

207684914

+
intron-3CDSENST00000376838ENST00000367053MTORchr1

11288725

-CR1chr1

207684914

+
intron-3CDSENST00000376838ENST00000367052MTORchr1

11288725

-CR1chr1

207684914

+
intron-3CDSENST00000376838ENST00000367051MTORchr1

11288725

-CR1chr1

207684914

+
intron-3CDSENST00000376838ENST00000400960MTORchr1

11288725

-CR1chr1

207684914

+
intron-3CDSENST00000376838ENST00000367049MTORchr1

11288725

-CR1chr1

207684914

+
intron-3UTRENST00000376838ENST00000367050MTORchr1

11288725

-CR1chr1

207684914

+
intron-3CDSENST00000495435ENST00000367053MTORchr1

11288725

-CR1chr1

207684914

+
intron-3CDSENST00000495435ENST00000367052MTORchr1

11288725

-CR1chr1

207684914

+
intron-3CDSENST00000495435ENST00000367051MTORchr1

11288725

-CR1chr1

207684914

+
intron-3CDSENST00000495435ENST00000400960MTORchr1

11288725

-CR1chr1

207684914

+
intron-3CDSENST00000495435ENST00000367049MTORchr1

11288725

-CR1chr1

207684914

+
intron-3UTRENST00000495435ENST00000367050MTORchr1

11288725

-CR1chr1

207684914

+

Top

FusionProtFeatures for MTOR_CR1


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

P42345

CR1

P17927

Serine/threonine protein kinase which is a centralregulator of cellular metabolism, growth and survival in responseto hormones, growth factors, nutrients, energy and stress signals.MTOR directly or indirectly regulates the phosphorylation of atleast 800 proteins. Functions as part of 2 structurally andfunctionally distinct signaling complexes mTORC1 and mTORC2 (mTORcomplex 1 and 2). Activated mTORC1 up-regulates protein synthesisby phosphorylating key regulators of mRNA translation and ribosomesynthesis. This includes phosphorylation of EIF4EBP1 and releaseof its inhibition toward the elongation initiation factor 4E(eiF4E). Moreover, phosphorylates and activates RPS6KB1 andRPS6KB2 that promote protein synthesis by modulating the activityof their downstream targets including ribosomal protein S6,eukaryotic translation initiation factor EIF4B, and the inhibitorof translation initiation PDCD4. Stimulates the pyrimidinebiosynthesis pathway, both by acute regulation through RPS6KB1-mediated phosphorylation of the biosynthetic enzyme CAD, anddelayed regulation, through transcriptional enhancement of thepentose phosphate pathway which produces 5-phosphoribosyl-1-pyrophosphate (PRPP), an allosteric activator of CAD at a laterstep in synthesis, this function is dependent on the mTORC1complex. Regulates ribosome synthesis by activating RNA polymeraseIII-dependent transcription through phosphorylation and inhibitionof MAF1 an RNA polymerase III-repressor. In parallel to proteinsynthesis, also regulates lipid synthesis through SREBF1/SREBP1and LPIN1. To maintain energy homeostasis mTORC1 may also regulatemitochondrial biogenesis through regulation of PPARGC1A. mTORC1also negatively regulates autophagy through phosphorylation ofULK1. Under nutrient sufficiency, phosphorylates ULK1 at 'Ser-758', disrupting the interaction with AMPK and preventingactivation of ULK1. Also prevents autophagy throughphosphorylation of the autophagy inhibitor DAP. mTORC1 exerts afeedback control on upstream growth factor signaling that includesphosphorylation and activation of GRB10 a INSR-dependent signalingsuppressor. Among other potential targets mTORC1 may phosphorylateCLIP1 and regulate microtubules. As part of the mTORC2 complexMTOR may regulate other cellular processes including survival andorganization of the cytoskeleton. Plays a critical role in thephosphorylation at 'Ser-473' of AKT1, a pro-survival effector ofphosphoinositide 3-kinase, facilitating its activation by PDK1.mTORC2 may regulate the actin cytoskeleton, throughphosphorylation of PRKCA, PXN and activation of the Rho-typeguanine nucleotide exchange factors RHOA and RAC1A or RAC1B.mTORC2 also regulates the phosphorylation of SGK1 at 'Ser-422'(PubMed:12087098, PubMed:12150925, PubMed:12150926,PubMed:12231510, PubMed:12718876, PubMed:14651849,PubMed:15268862, PubMed:15467718, PubMed:15545625,PubMed:15718470, PubMed:18497260, PubMed:18762023,PubMed:18925875, PubMed:20516213, PubMed:20537536,PubMed:21659604, PubMed:23429703, PubMed:23429704,PubMed:25799227, PubMed:26018084). Regulates osteoclastogenesis byadjusting the expression of CEBPB isoforms (By similarity).{ECO:0000250|UniProtKB:Q9JLN9, ECO:0000269|PubMed:12087098,ECO:0000269|PubMed:12150925, ECO:0000269|PubMed:12150926,ECO:0000269|PubMed:12231510, ECO:0000269|PubMed:12718876,ECO:0000269|PubMed:14651849, ECO:0000269|PubMed:15268862,ECO:0000269|PubMed:15467718, ECO:0000269|PubMed:15545625,ECO:0000269|PubMed:15718470, ECO:0000269|PubMed:18497260,ECO:0000269|PubMed:18762023, ECO:0000269|PubMed:18925875,ECO:0000269|PubMed:20516213, ECO:0000269|PubMed:20537536,ECO:0000269|PubMed:21659604, ECO:0000269|PubMed:23429703,ECO:0000269|PubMed:23429704, ECO:0000269|PubMed:25799227,ECO:0000269|PubMed:26018084}. Mediates cellular binding of particles and immunecomplexes that have activated complement. (Microbial infection) Acts as a receptor for Epstein-Barr virus. {ECO:0000269|PubMed:23416052}.

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


Top

FusionGeneSequence for MTOR_CR1


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).

Top

FusionGenePPI for MTOR_CR1


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
MTORUBQLN1, RICTOR, RPTOR, FKBP1A, ABL1, EIF4EBP1, AKT1, MTOR, IRS1, LRPAP1, PRKAA1, PRKCD, RHEB, RPS6KB1, CLIP1, STAT1, EIF3B, EIF3C, EIF3F, GPHN, MAPKAP1, GDI2P1, PA2G4, PDK1, CFP, PLD2, PPP2R2A, RAP1A, STAT3, TERT, MLST8, FBXW7, TTI1, TELO2, DEPTOR, PRR5, PRKCA, RPL23, RPS6, RPL23A, RPL26, RPL5, GSK3B, C7orf25, CDC37, SEPT2, TERF1, SIRT7, USP9X, RUVBL2, RUVBL1, SQSTM1, RRAGC, MAPK8, AKT1S1, EIF4EBP2, ULK1, RRAGD, PML, STK38, BRCA1, DDB1, VCP, METAP2, TP53, SIRT1, PREX1, PREX2, LARS, PDIA3, HSPA4, AMBRA1, TRAF6, EGFR, YWHAQ, MTA2, FKBP8, GNB1, GNG2, GNB2, GNB3, GNB5, RRAGB, PRR5L, ILK, NCBP1, EIF4E, CHUK, IKBKB, IKBKG, NFKBIA, SGK1, GADD45A, RHEBL1, SHMT2, MOV10, NXF1, MAF1, NBN, LAMTOR2, BCL2L1, SUZ12, SUMO1, GTF3C1, PRKAR1A, YWHAZ, BSG, CD274, VSIG2, CA14, NT5E, CD244, LYPD3, RP2, SCN2B, HTR6, MLXIP, MLXIPL, DIAPH1, TRMT61A, XPO1, HNRNPD, LLGL2, YEATS4, SYNCRIP, SGTB, VPS16, NAF1, ASPM, BAG6, ZSCAN26, TRAF2, TNFAIP3, RAB1A, RAP2A, PARK2, BRAT1, MAP3K3, DCP2, MTMR3, ZNRF2, FBXO8, PDGFRA, PRKDC, CHEK1, KDM5C, IGF1R, SMAD4, TOP1, CASP8, PTEN, LEFTY1, SCN3B, VIPR2, NTRK3, NPY2R, CD83, TMEM206, DPEP1, HTT, THADA, SMDT1, XPO6, XPO4, MAP2K1, MAPK1, RABGGTB, FNTA, TUBA1A, WEE1, ESR1, TRIM25, SKP2, EP300CR1CR2


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


Top

RelatedDrugs for MTOR_CR1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneMTORP42345DB01590EverolimusSerine/threonine-protein kinase mTORsmall moleculeapproved
HgeneMTORP42345DB06287TemsirolimusSerine/threonine-protein kinase mTORsmall moleculeapproved
HgeneMTORP42345DB00337PimecrolimusSerine/threonine-protein kinase mTORsmall moleculeapproved|investigational
HgeneMTORP42345DB00877SirolimusSerine/threonine-protein kinase mTORsmall moleculeapproved|investigational

Top

RelatedDiseases for MTOR_CR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMTORC0041696Unipolar Depression2PSYGENET
HgeneMTORC1269683Major Depressive Disorder2PSYGENET
HgeneMTORC0001418Adenocarcinoma1CTD_human
HgeneMTORC0007134Renal Cell Carcinoma1CTD_human
HgeneMTORC0007873Uterine Cervical Neoplasm1CTD_human
HgeneMTORC0020538Hypertensive disease1CTD_human
HgeneMTORC0025500Mesothelioma1CTD_human
HgeneMTORC0036341Schizophrenia1CTD_human
HgeneMTORC0149721Left Ventricular Hypertrophy1CTD_human
HgeneMTORC0235032Neurotoxicity Syndromes1CTD_human
HgeneMTORC0262584Carcinoma, Small Cell1CTD_human
HgeneMTORC0334634Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse1CTD_human
HgeneMTORC0588006Mild depression1PSYGENET
HgeneMTORC0919267ovarian neoplasm1CTD_human
HgeneMTORC1955869Malformations of Cortical Development1CTD_human
HgeneMTORC1961099Precursor T-Cell Lymphoblastic Leukemia-Lymphoma1CTD_human
HgeneMTORC2239176Liver carcinoma1CTD_human
HgeneMTORC4225259SMITH-KINGSMORE SYNDROME1ORPHANET;UNIPROT
TgeneCR1C0002395Alzheimer's Disease2CTD_human
TgeneCR1C0024535Malaria, Falciparum2CTD_human