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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: 7734

FusionGeneSummary for CNOT6L_AKT3

check button Fusion gene summary
Fusion gene informationFusion gene name: CNOT6L_AKT3
Fusion gene ID: 7734
HgeneTgene
Gene symbol

CNOT6L

AKT3

Gene ID

246175

10000

Gene nameCCR4-NOT transcription complex subunit 6 likeAKT serine/threonine kinase 3
SynonymsCCR4bMPPH|MPPH2|PKB-GAMMA|PKBG|PRKBG|RAC-PK-gamma|RAC-gamma|STK-2
Cytomap

4q21.1

1q43-q44

Type of geneprotein-codingprotein-coding
DescriptionCCR4-NOT transcription complex subunit 6-likecarbon catabolite repressor protein 4 homolog BRAC-gamma serine/threonine-protein kinasePKB gammaRAC-gamma serine/threonine protein kinasev-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma)
Modification date2018051920180523
UniProtAcc

Q96LI5

Q9Y243

Ensembl transtripts involved in fusion geneENST00000504123, ENST00000264903, 
ENST00000506166, 
ENST00000336199, 
ENST00000366540, ENST00000366539, 
ENST00000263826, ENST00000492957, 
Fusion gene scores* DoF score1 X 1 X 1=18 X 7 X 4=224
# samples 19
** MAII scorelog2(1/1*10)=3.32192809488736log2(9/224*10)=-1.31550182572793
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CNOT6L [Title/Abstract] AND AKT3 [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
TgeneAKT3

GO:0043536

positive regulation of blood vessel endothelial cell migration

28254819

TgeneAKT3

GO:1905564

positive regulation of vascular endothelial cell proliferation

28254819


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
ChiTaRS3.1AA479228CNOT6Lchr4

78636227

-AKT3chr1

244013430

-
* 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-intronENST00000504123ENST00000336199CNOT6Lchr4

78636227

-AKT3chr1

244013430

-
intron-intronENST00000504123ENST00000366540CNOT6Lchr4

78636227

-AKT3chr1

244013430

-
intron-intronENST00000504123ENST00000366539CNOT6Lchr4

78636227

-AKT3chr1

244013430

-
intron-intronENST00000504123ENST00000263826CNOT6Lchr4

78636227

-AKT3chr1

244013430

-
intron-intronENST00000504123ENST00000492957CNOT6Lchr4

78636227

-AKT3chr1

244013430

-
intron-intronENST00000264903ENST00000336199CNOT6Lchr4

78636227

-AKT3chr1

244013430

-
intron-intronENST00000264903ENST00000366540CNOT6Lchr4

78636227

-AKT3chr1

244013430

-
intron-intronENST00000264903ENST00000366539CNOT6Lchr4

78636227

-AKT3chr1

244013430

-
intron-intronENST00000264903ENST00000263826CNOT6Lchr4

78636227

-AKT3chr1

244013430

-
intron-intronENST00000264903ENST00000492957CNOT6Lchr4

78636227

-AKT3chr1

244013430

-
intron-intronENST00000506166ENST00000336199CNOT6Lchr4

78636227

-AKT3chr1

244013430

-
intron-intronENST00000506166ENST00000366540CNOT6Lchr4

78636227

-AKT3chr1

244013430

-
intron-intronENST00000506166ENST00000366539CNOT6Lchr4

78636227

-AKT3chr1

244013430

-
intron-intronENST00000506166ENST00000263826CNOT6Lchr4

78636227

-AKT3chr1

244013430

-
intron-intronENST00000506166ENST00000492957CNOT6Lchr4

78636227

-AKT3chr1

244013430

-

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FusionProtFeatures for CNOT6L_AKT3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CNOT6L

Q96LI5

AKT3

Q9Y243

Has 3'-5' poly(A) exoribonuclease activity for syntheticpoly(A) RNA substrate. Catalytic component of the CCR4-NOT complexwhich is one of the major cellular mRNA deadenylases and is linkedto various cellular processes including bulk mRNA degradation,miRNA-mediated repression, translational repression duringtranslational initiation and general transcription regulation.Additional complex functions may be a consequence of its influenceon mRNA expression. May be involved in the deadenylation-dependentdegradation of mRNAs through the 3'-UTR AU-rich element-mediatedmechanism. Involved in deadenylation-dependent degradation ofCDKN1B mRNA. Its mRNA deadenylase activity can be inhibited byTOB1. Mediates cell proliferation and cell survival and preventscellular senescence. {ECO:0000269|PubMed:17452450,ECO:0000269|PubMed:21233283}. AKT3 is one of 3 closely related serine/threonine-protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, andwhich regulate many processes including metabolism, proliferation,cell survival, growth and angiogenesis. This is mediated throughserine and/or threonine phosphorylation of a range of downstreamsubstrates. Over 100 substrate candidates have been reported sofar, but for most of them, no isoform specificity has beenreported. AKT3 is the least studied AKT isoform. It plays animportant role in brain development and is crucial for theviability of malignant glioma cells. AKT3 isoform may also be thekey molecule in up-regulation and down-regulation of MMP13 viaIL13. Required for the coordination of mitochondrial biogenesiswith growth factor-induced increases in cellular energy demands.Down-regulation by RNA interference reduces the expression of thephosphorylated form of BAD, resulting in the induction of caspase-dependent apoptosis. {ECO:0000269|PubMed:18524868,ECO:0000269|PubMed:21191416}.

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 CNOT6L_AKT3


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 CNOT6L_AKT3


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 CNOT6L_AKT3


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 CNOT6L_AKT3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneAKT3C4014738MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 23UNIPROT
TgeneAKT3C1863924Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome1CTD_human
TgeneAKT3C1955869Malformations of Cortical Development1CTD_human