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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: 1415

FusionGeneSummary for AKT3_ANK3

check button Fusion gene summary
Fusion gene informationFusion gene name: AKT3_ANK3
Fusion gene ID: 1415
HgeneTgene
Gene symbol

AKT3

ANK3

Gene ID

10000

288

Gene nameAKT serine/threonine kinase 3ankyrin 3
SynonymsMPPH|MPPH2|PKB-GAMMA|PKBG|PRKBG|RAC-PK-gamma|RAC-gamma|STK-2ANKYRIN-G|MRT37
Cytomap

1q43-q44

10q21.2

Type of geneprotein-codingprotein-coding
DescriptionRAC-gamma serine/threonine-protein kinasePKB gammaRAC-gamma serine/threonine protein kinasev-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma)ankyrin-3ankyrin 3, node of Ranvier (ankyrin G)
Modification date2018052320180523
UniProtAcc

Q9Y243

Q12955

Ensembl transtripts involved in fusion geneENST00000336199, ENST00000366540, 
ENST00000366539, ENST00000263826, 
ENST00000492957, 		ENST00000280772, 
ENST00000373827, ENST00000355288, 
ENST00000503366, ENST00000510382, 
ENST00000460468, 
Fusion gene scores* DoF score8 X 5 X 5=20012 X 16 X 9=1728
# samples 918
** MAII scorelog2(9/200*10)=-1.15200309344505
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(18/1728*10)=-3.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AKT3 [Title/Abstract] AND ANK3 [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
HgeneAKT3

GO:0043536

positive regulation of blood vessel endothelial cell migration

28254819

HgeneAKT3

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
ChiTaRS3.1BE708406AKT3chr1

243762537

-ANK3chr10

61789448

+
* 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-3UTRENST00000336199ENST00000280772AKT3chr1

243762537

-ANK3chr10

61789448

+
intron-3UTRENST00000336199ENST00000373827AKT3chr1

243762537

-ANK3chr10

61789448

+
intron-intronENST00000336199ENST00000355288AKT3chr1

243762537

-ANK3chr10

61789448

+
intron-intronENST00000336199ENST00000503366AKT3chr1

243762537

-ANK3chr10

61789448

+
intron-intronENST00000336199ENST00000510382AKT3chr1

243762537

-ANK3chr10

61789448

+
intron-intronENST00000336199ENST00000460468AKT3chr1

243762537

-ANK3chr10

61789448

+
intron-3UTRENST00000366540ENST00000280772AKT3chr1

243762537

-ANK3chr10

61789448

+
intron-3UTRENST00000366540ENST00000373827AKT3chr1

243762537

-ANK3chr10

61789448

+
intron-intronENST00000366540ENST00000355288AKT3chr1

243762537

-ANK3chr10

61789448

+
intron-intronENST00000366540ENST00000503366AKT3chr1

243762537

-ANK3chr10

61789448

+
intron-intronENST00000366540ENST00000510382AKT3chr1

243762537

-ANK3chr10

61789448

+
intron-intronENST00000366540ENST00000460468AKT3chr1

243762537

-ANK3chr10

61789448

+
intron-3UTRENST00000366539ENST00000280772AKT3chr1

243762537

-ANK3chr10

61789448

+
intron-3UTRENST00000366539ENST00000373827AKT3chr1

243762537

-ANK3chr10

61789448

+
intron-intronENST00000366539ENST00000355288AKT3chr1

243762537

-ANK3chr10

61789448

+
intron-intronENST00000366539ENST00000503366AKT3chr1

243762537

-ANK3chr10

61789448

+
intron-intronENST00000366539ENST00000510382AKT3chr1

243762537

-ANK3chr10

61789448

+
intron-intronENST00000366539ENST00000460468AKT3chr1

243762537

-ANK3chr10

61789448

+
intron-3UTRENST00000263826ENST00000280772AKT3chr1

243762537

-ANK3chr10

61789448

+
intron-3UTRENST00000263826ENST00000373827AKT3chr1

243762537

-ANK3chr10

61789448

+
intron-intronENST00000263826ENST00000355288AKT3chr1

243762537

-ANK3chr10

61789448

+
intron-intronENST00000263826ENST00000503366AKT3chr1

243762537

-ANK3chr10

61789448

+
intron-intronENST00000263826ENST00000510382AKT3chr1

243762537

-ANK3chr10

61789448

+
intron-intronENST00000263826ENST00000460468AKT3chr1

243762537

-ANK3chr10

61789448

+
intron-3UTRENST00000492957ENST00000280772AKT3chr1

243762537

-ANK3chr10

61789448

+
intron-3UTRENST00000492957ENST00000373827AKT3chr1

243762537

-ANK3chr10

61789448

+
intron-intronENST00000492957ENST00000355288AKT3chr1

243762537

-ANK3chr10

61789448

+
intron-intronENST00000492957ENST00000503366AKT3chr1

243762537

-ANK3chr10

61789448

+
intron-intronENST00000492957ENST00000510382AKT3chr1

243762537

-ANK3chr10

61789448

+
intron-intronENST00000492957ENST00000460468AKT3chr1

243762537

-ANK3chr10

61789448

+

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FusionProtFeatures for AKT3_ANK3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AKT3

Q9Y243

ANK3

Q12955

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 AKT3_ANK3


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 AKT3_ANK3


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 AKT3_ANK3


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 AKT3_ANK3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAKT3C4014738MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 23UNIPROT
HgeneAKT3C1863924Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome1CTD_human
HgeneAKT3C1955869Malformations of Cortical Development1CTD_human
TgeneANK3C0005586Bipolar Disorder7CTD_human;PSYGENET
TgeneANK3C0036341Schizophrenia3PSYGENET
TgeneANK3C0033975Psychotic Disorders2PSYGENET
TgeneANK3C0525045Mood Disorders2PSYGENET
TgeneANK3C0033300Progeria1CTD_human
TgeneANK3C0038220Status Epilepticus1CTD_human
TgeneANK3C0178417Anhedonia1PSYGENET
TgeneANK3C0349204Nonorganic psychosis1PSYGENET