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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: 25356

FusionGeneSummary for OCIAD1_MTOR

check button Fusion gene summary
Fusion gene informationFusion gene name: OCIAD1_MTOR
Fusion gene ID: 25356
HgeneTgene
Gene symbol

OCIAD1

MTOR

Gene ID

54940

2475

Gene nameOCIA domain containing 1mechanistic target of rapamycin kinase
SynonymsASRIJ|OCIA|TPA018FRAP|FRAP1|FRAP2|RAFT1|RAPT1|SKS
Cytomap

4p11

1p36.22

Type of geneprotein-codingprotein-coding
DescriptionOCIA domain-containing protein 1ovarian cancer immunoreactive antigen domain containing 1ovarian cancer immunoreactive antigen domain containing 1Aovarian carcinoma immunoreactive antigenserine/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 o
Modification date2018051920180527
UniProtAcc

Q9NX40

P42345

Ensembl transtripts involved in fusion geneENST00000509122, ENST00000512981, 
ENST00000396448, ENST00000264312, 
ENST00000381473, ENST00000444354, 
ENST00000506801, ENST00000425583, 
ENST00000508293, ENST00000513391, 
ENST00000361445, ENST00000376838, 
ENST00000495435, 
Fusion gene scores* DoF score5 X 5 X 3=7511 X 12 X 7=924
# samples 516
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/924*10)=-2.5298209465287
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: OCIAD1 [Title/Abstract] AND MTOR [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
TgeneMTOR

GO:0001558

regulation of cell growth

18762023

TgeneMTOR

GO:0001934

positive regulation of protein phosphorylation

20233713

TgeneMTOR

GO:0006468

protein phosphorylation

12150926|15467718|18925875

TgeneMTOR

GO:0009267

cellular response to starvation

28223137

TgeneMTOR

GO:0016242

negative regulation of macroautophagy

25327288

TgeneMTOR

GO:0016310

phosphorylation

11853878|25327288

TgeneMTOR

GO:0034198

cellular response to amino acid starvation

22424946

TgeneMTOR

GO:0038202

TORC1 signaling

28223137

TgeneMTOR

GO:0043200

response to amino acid

18497260

TgeneMTOR

GO:0045727

positive regulation of translation

18762023

TgeneMTOR

GO:0046777

protein autophosphorylation

15467718

TgeneMTOR

GO:0071230

cellular response to amino acid stimulus

22424946

TgeneMTOR

GO:0071233

cellular response to leucine

22424946

TgeneMTOR

GO:1990253

cellular response to leucine starvation

22424946


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
ChiTaRS3.1DB084769OCIAD1chr4

48850463

+MTORchr1

11194523

-
* 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-shiftENST00000509122ENST00000361445OCIAD1chr4

48850463

+MTORchr1

11194523

-
5CDS-intronENST00000509122ENST00000376838OCIAD1chr4

48850463

+MTORchr1

11194523

-
5CDS-5UTRENST00000509122ENST00000495435OCIAD1chr4

48850463

+MTORchr1

11194523

-
3UTR-3CDSENST00000512981ENST00000361445OCIAD1chr4

48850463

+MTORchr1

11194523

-
3UTR-intronENST00000512981ENST00000376838OCIAD1chr4

48850463

+MTORchr1

11194523

-
3UTR-5UTRENST00000512981ENST00000495435OCIAD1chr4

48850463

+MTORchr1

11194523

-
Frame-shiftENST00000396448ENST00000361445OCIAD1chr4

48850463

+MTORchr1

11194523

-
5CDS-intronENST00000396448ENST00000376838OCIAD1chr4

48850463

+MTORchr1

11194523

-
5CDS-5UTRENST00000396448ENST00000495435OCIAD1chr4

48850463

+MTORchr1

11194523

-
Frame-shiftENST00000264312ENST00000361445OCIAD1chr4

48850463

+MTORchr1

11194523

-
5CDS-intronENST00000264312ENST00000376838OCIAD1chr4

48850463

+MTORchr1

11194523

-
5CDS-5UTRENST00000264312ENST00000495435OCIAD1chr4

48850463

+MTORchr1

11194523

-
Frame-shiftENST00000381473ENST00000361445OCIAD1chr4

48850463

+MTORchr1

11194523

-
5CDS-intronENST00000381473ENST00000376838OCIAD1chr4

48850463

+MTORchr1

11194523

-
5CDS-5UTRENST00000381473ENST00000495435OCIAD1chr4

48850463

+MTORchr1

11194523

-
Frame-shiftENST00000444354ENST00000361445OCIAD1chr4

48850463

+MTORchr1

11194523

-
5CDS-intronENST00000444354ENST00000376838OCIAD1chr4

48850463

+MTORchr1

11194523

-
5CDS-5UTRENST00000444354ENST00000495435OCIAD1chr4

48850463

+MTORchr1

11194523

-
Frame-shiftENST00000506801ENST00000361445OCIAD1chr4

48850463

+MTORchr1

11194523

-
5CDS-intronENST00000506801ENST00000376838OCIAD1chr4

48850463

+MTORchr1

11194523

-
5CDS-5UTRENST00000506801ENST00000495435OCIAD1chr4

48850463

+MTORchr1

11194523

-
Frame-shiftENST00000425583ENST00000361445OCIAD1chr4

48850463

+MTORchr1

11194523

-
5CDS-intronENST00000425583ENST00000376838OCIAD1chr4

48850463

+MTORchr1

11194523

-
5CDS-5UTRENST00000425583ENST00000495435OCIAD1chr4

48850463

+MTORchr1

11194523

-
Frame-shiftENST00000508293ENST00000361445OCIAD1chr4

48850463

+MTORchr1

11194523

-
5CDS-intronENST00000508293ENST00000376838OCIAD1chr4

48850463

+MTORchr1

11194523

-
5CDS-5UTRENST00000508293ENST00000495435OCIAD1chr4

48850463

+MTORchr1

11194523

-
Frame-shiftENST00000513391ENST00000361445OCIAD1chr4

48850463

+MTORchr1

11194523

-
5CDS-intronENST00000513391ENST00000376838OCIAD1chr4

48850463

+MTORchr1

11194523

-
5CDS-5UTRENST00000513391ENST00000495435OCIAD1chr4

48850463

+MTORchr1

11194523

-

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FusionProtFeatures for OCIAD1_MTOR


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
OCIAD1

Q9NX40

MTOR

P42345

Maintains stem cell potency (By similarity). IncreasesSTAT3 phosphorylation and controls ERK phosphorylation (Bysimilarity). May act as a scaffold, increasing STAT3 recruitmentonto endosomes (By similarity). Involved in integrin-mediatedcancer cell adhesion and colony formation in ovarian cancer(PubMed:20515946). {ECO:0000250|UniProtKB:Q9CRD0,ECO:0000269|PubMed:20515946}. 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}.

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 OCIAD1_MTOR


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 OCIAD1_MTOR


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
OCIAD1UBC, FLOT1, ELAVL1, SDHB, ATF7, SHMT2, MOV10, NXF1, BLVRA, RGL4, GNAT2, GNAS, LANCL1, LPAR1, CPVL, AKAP14, UNK, PCBP1, TMEM67, XPO1, TIMMDC1, RAB5C, OCIAD1, CHCHD3, FUNDC2, AFG3L2, NDUFA4, STOML2, CISD1, PMPCB, CLPB, CYB5R3, COX6A1, TOMM5, ABCD3, UQCC2, C2orf47, USMG5, ATP5E, COX6C, IMMT, NRD1, TIMM44, NDUFV1, ECH1, ATP5H, ATAD3A, SLC25A1, NDUFS8, NDUFS2, MTX1, ATAD1, MTCH2, ATP5C1, COX7A2, ATP5O, TOMM20, TOMM40, YME1L1, C1QBP, BAX, NDUFS3, ATP5J, TIMM50, SCO1, POLDIP2, NDUFA9, NDUFB1, CTDNEP1, IPPK, SYCE3, UST, EXOC8, CLU, RALBMTORUBQLN1, 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, EP300


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 OCIAD1_MTOR


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneMTORP42345DB01590EverolimusSerine/threonine-protein kinase mTORsmall moleculeapproved
TgeneMTORP42345DB06287TemsirolimusSerine/threonine-protein kinase mTORsmall moleculeapproved
TgeneMTORP42345DB00337PimecrolimusSerine/threonine-protein kinase mTORsmall moleculeapproved|investigational
TgeneMTORP42345DB00877SirolimusSerine/threonine-protein kinase mTORsmall moleculeapproved|investigational

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RelatedDiseases for OCIAD1_MTOR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMTORC0041696Unipolar Depression2PSYGENET
TgeneMTORC1269683Major Depressive Disorder2PSYGENET
TgeneMTORC0001418Adenocarcinoma1CTD_human
TgeneMTORC0007134Renal Cell Carcinoma1CTD_human
TgeneMTORC0007873Uterine Cervical Neoplasm1CTD_human
TgeneMTORC0020538Hypertensive disease1CTD_human
TgeneMTORC0025500Mesothelioma1CTD_human
TgeneMTORC0036341Schizophrenia1CTD_human
TgeneMTORC0149721Left Ventricular Hypertrophy1CTD_human
TgeneMTORC0235032Neurotoxicity Syndromes1CTD_human
TgeneMTORC0262584Carcinoma, Small Cell1CTD_human
TgeneMTORC0334634Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse1CTD_human
TgeneMTORC0588006Mild depression1PSYGENET
TgeneMTORC0919267ovarian neoplasm1CTD_human
TgeneMTORC1955869Malformations of Cortical Development1CTD_human
TgeneMTORC1961099Precursor T-Cell Lymphoblastic Leukemia-Lymphoma1CTD_human
TgeneMTORC2239176Liver carcinoma1CTD_human
TgeneMTORC4225259SMITH-KINGSMORE SYNDROME1ORPHANET;UNIPROT