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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:AKT1-B2M

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: AKT1-B2M
FusionPDB ID: 3464
FusionGDB2.0 ID: 3464
HgeneTgene
Gene symbol

AKT1

B2M

Gene ID

207

567

Gene nameAKT serine/threonine kinase 1beta-2-microglobulin
SynonymsAKT|CWS6|PKB|PKB-ALPHA|PRKBA|RAC|RAC-ALPHAIMD43
Cytomap

14q32.33

15q21.1

Type of geneprotein-codingprotein-coding
DescriptionRAC-alpha serine/threonine-protein kinaseAKT1mPKB alphaRAC-PK-alphaprotein kinase B alphaproto-oncogene c-Aktrac protein kinase alphaserine-threonine protein kinasev-akt murine thymoma viral oncogene homolog 1v-akt murine thymoma viral oncogene-lbeta-2-microglobulinbeta chain of MHC class I moleculesbeta-2-microglobin
Modification date2020032920200329
UniProtAcc

Q96B36

P61769

Ensembl transtripts involved in fusion geneENST idsENST00000349310, ENST00000402615, 
ENST00000407796, ENST00000554581, 
ENST00000554848, ENST00000555528, 
ENST00000544168, ENST00000554192, 
ENST00000554585, ENST00000555458, 
ENST00000559220, ENST00000544417, 
ENST00000558401, ENST00000559916, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score10 X 6 X 4=24064 X 31 X 17=33728
# samples 1071
** MAII scorelog2(10/240*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(71/33728*10)=-5.56998393724517
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: AKT1 [Title/Abstract] AND B2M [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)AKT1(105258935)-B2M(45007621), # samples:1
Anticipated loss of major functional domain due to fusion event.AKT1-B2M seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
AKT1-B2M seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
AKT1-B2M seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
AKT1-B2M seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
AKT1-B2M seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
AKT1-B2M seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
AKT1-B2M seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
AKT1-B2M seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF.
AKT1-B2M seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
* 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
HgeneAKT1

GO:0001934

positive regulation of protein phosphorylation

19057511

HgeneAKT1

GO:0006468

protein phosphorylation

11994271|14749367|23431171

HgeneAKT1

GO:0007173

epidermal growth factor receptor signaling pathway

20878056

HgeneAKT1

GO:0016310

phosphorylation

20333297

HgeneAKT1

GO:0018105

peptidyl-serine phosphorylation

16139227

HgeneAKT1

GO:0018107

peptidyl-threonine phosphorylation

20605787

HgeneAKT1

GO:0030307

positive regulation of cell growth

19203586

HgeneAKT1

GO:0032079

positive regulation of endodeoxyribonuclease activity

20605787

HgeneAKT1

GO:0033138

positive regulation of peptidyl-serine phosphorylation

19667065

HgeneAKT1

GO:0035556

intracellular signal transduction

14749367

HgeneAKT1

GO:0035655

interleukin-18-mediated signaling pathway

21321938

HgeneAKT1

GO:0043066

negative regulation of apoptotic process

19203586

HgeneAKT1

GO:0043536

positive regulation of blood vessel endothelial cell migration

20011604

HgeneAKT1

GO:0048661

positive regulation of smooth muscle cell proliferation

21321938

HgeneAKT1

GO:0051091

positive regulation of DNA-binding transcription factor activity

19057511

HgeneAKT1

GO:0070141

response to UV-A

18483258

TgeneB2M

GO:0002726

positive regulation of T cell cytokine production

24643698

TgeneB2M

GO:0007611

learning or memory

26147761

TgeneB2M

GO:0050680

negative regulation of epithelial cell proliferation

28213472

TgeneB2M

GO:0050768

negative regulation of neurogenesis

26147761

TgeneB2M

GO:0090647

modulation of age-related behavioral decline

26147761

TgeneB2M

GO:1900121

negative regulation of receptor binding

9465039

TgeneB2M

GO:1990000

amyloid fibril formation

28468825

TgeneB2M

GO:2000774

positive regulation of cellular senescence

28213472

TgeneB2M

GO:2000978

negative regulation of forebrain neuron differentiation

26147761


check buttonFusion gene breakpoints across AKT1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across B2M (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4THYMTCGA-X7-A8DFAKT1chr14

105258935

-B2Mchr15

45007621

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000402615AKT1chr14105258935-ENST00000544417B2Mchr1545007621+245715271521616301
ENST00000555528AKT1chr14105258935-ENST00000544417B2Mchr1545007621+1629699259798179

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000402615ENST00000544417AKT1chr14105258935-B2Mchr1545007621+0.6444450.355555
ENST00000555528ENST00000544417AKT1chr14105258935-B2Mchr1545007621+0.413293960.58670604

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>3464_3464_1_AKT1-B2M_AKT1_chr14_105258935_ENST00000402615_B2M_chr15_45007621_ENST00000544417_length(amino acids)=301AA_BP=
MCSQPSFTIATSLMVPEAPATLTRSSQAGAPRAQLAWPQPLMHQLTGCLLQAAPLTSLTQAGSAFPKPLVTDGPVCSPCPWCSYPWILGQ
GTGLLPAPQTRKAKKFKHEEDRTRMQATGANGSPEPSSASPKTSWEKPQAPPKPQRPCRSESGSFIWPTCTGRLRFCQAQCWALETKRGS
DKSVSEEHPVQGGYRPIITAVGRQQVSGGALDRPPPCSGPPANPHLSTLYPLILHGFLISPLMDELLGIPQNPVPTSPTTGIPRKSTSHA

--------------------------------------------------------------

>3464_3464_2_AKT1-B2M_AKT1_chr14_105258935_ENST00000555528_B2M_chr15_45007621_ENST00000544417_length(amino acids)=179AA_BP=146
MWFRRGLGFLPGGFWACAGGLWTPVCASGLHPGPVFLMFEFLCFPSLGSREEPCALSQDPWVGTPWTGRANGAICHQGLREGRASLGQRS

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr14:105258935/chr15:45007621)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AKT1

Q96B36

B2M

P61769

FUNCTION: Subunit of mTORC1, which regulates cell growth and survival in response to nutrient and hormonal signals. 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 the activation of the RHEB GTPase that potently activates the protein kinase activity of mTORC1. Amino acid-signaling to mTORC1 requires its relocalization to the lysosomes mediated by the Ragulator complex and the Rag GTPases. Activated mTORC1 up-regulates protein synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis. mTORC1 phosphorylates EIF4EBP1 and releases 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 and targeting it for degradation. Within mTORC1, AKT1S1 negatively regulates mTOR activity in a manner that is dependent on its phosphorylation state and binding to 14-3-3 proteins. Inhibits RHEB-GTP-dependent mTORC1 activation. Substrate for AKT1 phosphorylation, but can also be activated by AKT1-independent mechanisms. May also play a role in nerve growth factor-mediated neuroprotection. {ECO:0000269|PubMed:16174443, ECO:0000269|PubMed:17277771, ECO:0000269|PubMed:17386266}.FUNCTION: Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system. Exogenously applied M.tuberculosis EsxA or EsxA-EsxB (or EsxA expressed in host) binds B2M and decreases its export to the cell surface (total protein levels do not change), probably leading to defects in class I antigen presentation (PubMed:25356553). {ECO:0000269|PubMed:25356553}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneB2Mchr14:105258935chr15:45007621ENST000005584010425_11322.333333333333332498.0DomainNote=Ig-like C1-type
TgeneB2Mchr14:105258935chr15:45007621ENST000005599160325_11322.333333333333332120.0DomainNote=Ig-like C1-type

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAKT1chr14:105258935chr15:45007621ENST00000349310-315150_40815.333333333333334481.0DomainProtein kinase
HgeneAKT1chr14:105258935chr15:45007621ENST00000349310-315409_48015.333333333333334481.0DomainAGC-kinase C-terminal
HgeneAKT1chr14:105258935chr15:45007621ENST00000349310-3155_10815.333333333333334481.0DomainPH
HgeneAKT1chr14:105258935chr15:45007621ENST00000402615-214150_40815.333333333333334481.0DomainProtein kinase
HgeneAKT1chr14:105258935chr15:45007621ENST00000402615-214409_48015.333333333333334481.0DomainAGC-kinase C-terminal
HgeneAKT1chr14:105258935chr15:45007621ENST00000402615-2145_10815.333333333333334481.0DomainPH
HgeneAKT1chr14:105258935chr15:45007621ENST00000407796-214150_40815.333333333333334481.0DomainProtein kinase
HgeneAKT1chr14:105258935chr15:45007621ENST00000407796-214409_48015.333333333333334481.0DomainAGC-kinase C-terminal
HgeneAKT1chr14:105258935chr15:45007621ENST00000407796-2145_10815.333333333333334481.0DomainPH
HgeneAKT1chr14:105258935chr15:45007621ENST00000554581-113150_40815.333333333333334481.0DomainProtein kinase
HgeneAKT1chr14:105258935chr15:45007621ENST00000554581-113409_48015.333333333333334481.0DomainAGC-kinase C-terminal
HgeneAKT1chr14:105258935chr15:45007621ENST00000554581-1135_10815.333333333333334481.0DomainPH
HgeneAKT1chr14:105258935chr15:45007621ENST00000554848-214150_40815.333333333333334481.0DomainProtein kinase
HgeneAKT1chr14:105258935chr15:45007621ENST00000554848-214409_48015.333333333333334481.0DomainAGC-kinase C-terminal
HgeneAKT1chr14:105258935chr15:45007621ENST00000554848-2145_10815.333333333333334481.0DomainPH
HgeneAKT1chr14:105258935chr15:45007621ENST00000555528-214150_40815.333333333333334481.0DomainProtein kinase
HgeneAKT1chr14:105258935chr15:45007621ENST00000555528-214409_48015.333333333333334481.0DomainAGC-kinase C-terminal
HgeneAKT1chr14:105258935chr15:45007621ENST00000555528-2145_10815.333333333333334481.0DomainPH
HgeneAKT1chr14:105258935chr15:45007621ENST00000349310-315156_16415.333333333333334481.0Nucleotide bindingATP
HgeneAKT1chr14:105258935chr15:45007621ENST00000402615-214156_16415.333333333333334481.0Nucleotide bindingATP
HgeneAKT1chr14:105258935chr15:45007621ENST00000407796-214156_16415.333333333333334481.0Nucleotide bindingATP
HgeneAKT1chr14:105258935chr15:45007621ENST00000554581-113156_16415.333333333333334481.0Nucleotide bindingATP
HgeneAKT1chr14:105258935chr15:45007621ENST00000554848-214156_16415.333333333333334481.0Nucleotide bindingATP
HgeneAKT1chr14:105258935chr15:45007621ENST00000555528-214156_16415.333333333333334481.0Nucleotide bindingATP
HgeneAKT1chr14:105258935chr15:45007621ENST00000349310-31514_1915.333333333333334481.0RegionNote=Inositol-(1%2C3%2C4%2C5)-tetrakisphosphate binding
HgeneAKT1chr14:105258935chr15:45007621ENST00000349310-315228_23015.333333333333334481.0RegionNote=Inhibitor binding
HgeneAKT1chr14:105258935chr15:45007621ENST00000349310-31523_2515.333333333333334481.0RegionNote=Inositol-(1%2C3%2C4%2C5)-tetrakisphosphate binding
HgeneAKT1chr14:105258935chr15:45007621ENST00000402615-21414_1915.333333333333334481.0RegionNote=Inositol-(1%2C3%2C4%2C5)-tetrakisphosphate binding
HgeneAKT1chr14:105258935chr15:45007621ENST00000402615-214228_23015.333333333333334481.0RegionNote=Inhibitor binding
HgeneAKT1chr14:105258935chr15:45007621ENST00000402615-21423_2515.333333333333334481.0RegionNote=Inositol-(1%2C3%2C4%2C5)-tetrakisphosphate binding
HgeneAKT1chr14:105258935chr15:45007621ENST00000407796-21414_1915.333333333333334481.0RegionNote=Inositol-(1%2C3%2C4%2C5)-tetrakisphosphate binding
HgeneAKT1chr14:105258935chr15:45007621ENST00000407796-214228_23015.333333333333334481.0RegionNote=Inhibitor binding
HgeneAKT1chr14:105258935chr15:45007621ENST00000407796-21423_2515.333333333333334481.0RegionNote=Inositol-(1%2C3%2C4%2C5)-tetrakisphosphate binding
HgeneAKT1chr14:105258935chr15:45007621ENST00000554581-11314_1915.333333333333334481.0RegionNote=Inositol-(1%2C3%2C4%2C5)-tetrakisphosphate binding
HgeneAKT1chr14:105258935chr15:45007621ENST00000554581-113228_23015.333333333333334481.0RegionNote=Inhibitor binding
HgeneAKT1chr14:105258935chr15:45007621ENST00000554581-11323_2515.333333333333334481.0RegionNote=Inositol-(1%2C3%2C4%2C5)-tetrakisphosphate binding
HgeneAKT1chr14:105258935chr15:45007621ENST00000554848-21414_1915.333333333333334481.0RegionNote=Inositol-(1%2C3%2C4%2C5)-tetrakisphosphate binding
HgeneAKT1chr14:105258935chr15:45007621ENST00000554848-214228_23015.333333333333334481.0RegionNote=Inhibitor binding
HgeneAKT1chr14:105258935chr15:45007621ENST00000554848-21423_2515.333333333333334481.0RegionNote=Inositol-(1%2C3%2C4%2C5)-tetrakisphosphate binding
HgeneAKT1chr14:105258935chr15:45007621ENST00000555528-21414_1915.333333333333334481.0RegionNote=Inositol-(1%2C3%2C4%2C5)-tetrakisphosphate binding
HgeneAKT1chr14:105258935chr15:45007621ENST00000555528-214228_23015.333333333333334481.0RegionNote=Inhibitor binding
HgeneAKT1chr14:105258935chr15:45007621ENST00000555528-21423_2515.333333333333334481.0RegionNote=Inositol-(1%2C3%2C4%2C5)-tetrakisphosphate binding


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
AKT1
B2M


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to AKT1-B2M


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to AKT1-B2M


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource