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Fusion Protein:AKT1-B2M |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: AKT1-B2M | FusionPDB ID: 3464 | FusionGDB2.0 ID: 3464 | Hgene | Tgene | Gene symbol | AKT1 | B2M | Gene ID | 207 | 567 |
Gene name | AKT serine/threonine kinase 1 | beta-2-microglobulin | |
Synonyms | AKT|CWS6|PKB|PKB-ALPHA|PRKBA|RAC|RAC-ALPHA | IMD43 | |
Cytomap | 14q32.33 | 15q21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | RAC-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-l | beta-2-microglobulinbeta chain of MHC class I moleculesbeta-2-microglobin | |
Modification date | 20200329 | 20200329 | |
UniProtAcc | Q96B36 | P61769 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000349310, 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 score | 10 X 6 X 4=240 | 64 X 31 X 17=33728 |
# samples | 10 | 71 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | AKT1 | GO:0001934 | positive regulation of protein phosphorylation | 19057511 |
Hgene | AKT1 | GO:0006468 | protein phosphorylation | 11994271|14749367|23431171 |
Hgene | AKT1 | GO:0007173 | epidermal growth factor receptor signaling pathway | 20878056 |
Hgene | AKT1 | GO:0016310 | phosphorylation | 20333297 |
Hgene | AKT1 | GO:0018105 | peptidyl-serine phosphorylation | 16139227 |
Hgene | AKT1 | GO:0018107 | peptidyl-threonine phosphorylation | 20605787 |
Hgene | AKT1 | GO:0030307 | positive regulation of cell growth | 19203586 |
Hgene | AKT1 | GO:0032079 | positive regulation of endodeoxyribonuclease activity | 20605787 |
Hgene | AKT1 | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 19667065 |
Hgene | AKT1 | GO:0035556 | intracellular signal transduction | 14749367 |
Hgene | AKT1 | GO:0035655 | interleukin-18-mediated signaling pathway | 21321938 |
Hgene | AKT1 | GO:0043066 | negative regulation of apoptotic process | 19203586 |
Hgene | AKT1 | GO:0043536 | positive regulation of blood vessel endothelial cell migration | 20011604 |
Hgene | AKT1 | GO:0048661 | positive regulation of smooth muscle cell proliferation | 21321938 |
Hgene | AKT1 | GO:0051091 | positive regulation of DNA-binding transcription factor activity | 19057511 |
Hgene | AKT1 | GO:0070141 | response to UV-A | 18483258 |
Tgene | B2M | GO:0002726 | positive regulation of T cell cytokine production | 24643698 |
Tgene | B2M | GO:0007611 | learning or memory | 26147761 |
Tgene | B2M | GO:0050680 | negative regulation of epithelial cell proliferation | 28213472 |
Tgene | B2M | GO:0050768 | negative regulation of neurogenesis | 26147761 |
Tgene | B2M | GO:0090647 | modulation of age-related behavioral decline | 26147761 |
Tgene | B2M | GO:1900121 | negative regulation of receptor binding | 9465039 |
Tgene | B2M | GO:1990000 | amyloid fibril formation | 28468825 |
Tgene | B2M | GO:2000774 | positive regulation of cellular senescence | 28213472 |
Tgene | B2M | GO:2000978 | negative regulation of forebrain neuron differentiation | 26147761 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
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![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | THYM | TCGA-X7-A8DF | AKT1 | chr14 | 105258935 | - | B2M | chr15 | 45007621 | + |
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Fusion ORF Analysis |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000402615 | AKT1 | chr14 | 105258935 | - | ENST00000544417 | B2M | chr15 | 45007621 | + | 2457 | 1527 | 1521 | 616 | 301 |
ENST00000555528 | AKT1 | chr14 | 105258935 | - | ENST00000544417 | B2M | chr15 | 45007621 | + | 1629 | 699 | 259 | 798 | 179 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000402615 | ENST00000544417 | AKT1 | chr14 | 105258935 | - | B2M | chr15 | 45007621 | + | 0.644445 | 0.355555 |
ENST00000555528 | ENST00000544417 | AKT1 | chr14 | 105258935 | - | B2M | chr15 | 45007621 | + | 0.41329396 | 0.58670604 |
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Fusion Amino Acid Sequences |
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>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 |
![]() 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. |
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Hgene | Tgene |
AKT1 | B2M |
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}. |
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- Retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Tgene | B2M | chr14:105258935 | chr15:45007621 | ENST00000558401 | 0 | 4 | 25_113 | 22.333333333333332 | 498.0 | Domain | Note=Ig-like C1-type | |
Tgene | B2M | chr14:105258935 | chr15:45007621 | ENST00000559916 | 0 | 3 | 25_113 | 22.333333333333332 | 120.0 | Domain | Note=Ig-like C1-type |
- Not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000349310 | - | 3 | 15 | 150_408 | 15.333333333333334 | 481.0 | Domain | Protein kinase |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000349310 | - | 3 | 15 | 409_480 | 15.333333333333334 | 481.0 | Domain | AGC-kinase C-terminal |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000349310 | - | 3 | 15 | 5_108 | 15.333333333333334 | 481.0 | Domain | PH |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000402615 | - | 2 | 14 | 150_408 | 15.333333333333334 | 481.0 | Domain | Protein kinase |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000402615 | - | 2 | 14 | 409_480 | 15.333333333333334 | 481.0 | Domain | AGC-kinase C-terminal |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000402615 | - | 2 | 14 | 5_108 | 15.333333333333334 | 481.0 | Domain | PH |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000407796 | - | 2 | 14 | 150_408 | 15.333333333333334 | 481.0 | Domain | Protein kinase |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000407796 | - | 2 | 14 | 409_480 | 15.333333333333334 | 481.0 | Domain | AGC-kinase C-terminal |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000407796 | - | 2 | 14 | 5_108 | 15.333333333333334 | 481.0 | Domain | PH |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000554581 | - | 1 | 13 | 150_408 | 15.333333333333334 | 481.0 | Domain | Protein kinase |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000554581 | - | 1 | 13 | 409_480 | 15.333333333333334 | 481.0 | Domain | AGC-kinase C-terminal |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000554581 | - | 1 | 13 | 5_108 | 15.333333333333334 | 481.0 | Domain | PH |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000554848 | - | 2 | 14 | 150_408 | 15.333333333333334 | 481.0 | Domain | Protein kinase |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000554848 | - | 2 | 14 | 409_480 | 15.333333333333334 | 481.0 | Domain | AGC-kinase C-terminal |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000554848 | - | 2 | 14 | 5_108 | 15.333333333333334 | 481.0 | Domain | PH |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000555528 | - | 2 | 14 | 150_408 | 15.333333333333334 | 481.0 | Domain | Protein kinase |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000555528 | - | 2 | 14 | 409_480 | 15.333333333333334 | 481.0 | Domain | AGC-kinase C-terminal |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000555528 | - | 2 | 14 | 5_108 | 15.333333333333334 | 481.0 | Domain | PH |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000349310 | - | 3 | 15 | 156_164 | 15.333333333333334 | 481.0 | Nucleotide binding | ATP |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000402615 | - | 2 | 14 | 156_164 | 15.333333333333334 | 481.0 | Nucleotide binding | ATP |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000407796 | - | 2 | 14 | 156_164 | 15.333333333333334 | 481.0 | Nucleotide binding | ATP |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000554581 | - | 1 | 13 | 156_164 | 15.333333333333334 | 481.0 | Nucleotide binding | ATP |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000554848 | - | 2 | 14 | 156_164 | 15.333333333333334 | 481.0 | Nucleotide binding | ATP |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000555528 | - | 2 | 14 | 156_164 | 15.333333333333334 | 481.0 | Nucleotide binding | ATP |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000349310 | - | 3 | 15 | 14_19 | 15.333333333333334 | 481.0 | Region | Note=Inositol-(1%2C3%2C4%2C5)-tetrakisphosphate binding |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000349310 | - | 3 | 15 | 228_230 | 15.333333333333334 | 481.0 | Region | Note=Inhibitor binding |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000349310 | - | 3 | 15 | 23_25 | 15.333333333333334 | 481.0 | Region | Note=Inositol-(1%2C3%2C4%2C5)-tetrakisphosphate binding |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000402615 | - | 2 | 14 | 14_19 | 15.333333333333334 | 481.0 | Region | Note=Inositol-(1%2C3%2C4%2C5)-tetrakisphosphate binding |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000402615 | - | 2 | 14 | 228_230 | 15.333333333333334 | 481.0 | Region | Note=Inhibitor binding |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000402615 | - | 2 | 14 | 23_25 | 15.333333333333334 | 481.0 | Region | Note=Inositol-(1%2C3%2C4%2C5)-tetrakisphosphate binding |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000407796 | - | 2 | 14 | 14_19 | 15.333333333333334 | 481.0 | Region | Note=Inositol-(1%2C3%2C4%2C5)-tetrakisphosphate binding |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000407796 | - | 2 | 14 | 228_230 | 15.333333333333334 | 481.0 | Region | Note=Inhibitor binding |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000407796 | - | 2 | 14 | 23_25 | 15.333333333333334 | 481.0 | Region | Note=Inositol-(1%2C3%2C4%2C5)-tetrakisphosphate binding |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000554581 | - | 1 | 13 | 14_19 | 15.333333333333334 | 481.0 | Region | Note=Inositol-(1%2C3%2C4%2C5)-tetrakisphosphate binding |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000554581 | - | 1 | 13 | 228_230 | 15.333333333333334 | 481.0 | Region | Note=Inhibitor binding |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000554581 | - | 1 | 13 | 23_25 | 15.333333333333334 | 481.0 | Region | Note=Inositol-(1%2C3%2C4%2C5)-tetrakisphosphate binding |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000554848 | - | 2 | 14 | 14_19 | 15.333333333333334 | 481.0 | Region | Note=Inositol-(1%2C3%2C4%2C5)-tetrakisphosphate binding |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000554848 | - | 2 | 14 | 228_230 | 15.333333333333334 | 481.0 | Region | Note=Inhibitor binding |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000554848 | - | 2 | 14 | 23_25 | 15.333333333333334 | 481.0 | Region | Note=Inositol-(1%2C3%2C4%2C5)-tetrakisphosphate binding |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000555528 | - | 2 | 14 | 14_19 | 15.333333333333334 | 481.0 | Region | Note=Inositol-(1%2C3%2C4%2C5)-tetrakisphosphate binding |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000555528 | - | 2 | 14 | 228_230 | 15.333333333333334 | 481.0 | Region | Note=Inhibitor binding |
Hgene | AKT1 | chr14:105258935 | chr15:45007621 | ENST00000555528 | - | 2 | 14 | 23_25 | 15.333333333333334 | 481.0 | Region | Note=Inositol-(1%2C3%2C4%2C5)-tetrakisphosphate binding |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
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Gene | STRING network |
AKT1 | |
B2M |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to AKT1-B2M |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to AKT1-B2M |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |