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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:AKT1-RORA (FusionGDB2 ID:HG207TG6095) |
Fusion Gene Summary for AKT1-RORA |
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Fusion gene information | Fusion gene name: AKT1-RORA | Fusion gene ID: hg207tg6095 | Hgene | Tgene | Gene symbol | AKT1 | RORA | Gene ID | 207 | 6095 |
Gene name | AKT serine/threonine kinase 1 | RAR related orphan receptor A | |
Synonyms | AKT|CWS6|PKB|PKB-ALPHA|PRKBA|RAC|RAC-ALPHA | IDDECA|NR1F1|ROR1|ROR2|ROR3|RZR-ALPHA|RZRA | |
Cytomap | ('AKT1')('RORA') 14q32.33 | 15q22.2 | |
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 | nuclear receptor ROR-alphaROR-alphanuclear receptor RZR-alphanuclear receptor subfamily 1 group F member 1retinoic acid receptor-related orphan receptor alpharetinoid-related orphan receptor alphathyroid hormone nuclear receptor alpha variant 4tran | |
Modification date | 20200329 | 20200322 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000349310, ENST00000402615, ENST00000407796, ENST00000554581, ENST00000544168, ENST00000554192, ENST00000554585, ENST00000554848, ENST00000555458, ENST00000555528, | ||
Fusion gene scores | * DoF score | 10 X 6 X 4=240 | 13 X 10 X 6=780 |
# samples | 10 | 13 | |
** MAII score | log2(10/240*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/780*10)=-2.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: AKT1 [Title/Abstract] AND RORA [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | AKT1(105235686)-RORA(61475729), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* 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 | RORA | GO:0006355 | regulation of transcription, DNA-templated | 9328355 |
Tgene | RORA | GO:0030522 | intracellular receptor signaling pathway | 19965867 |
Tgene | RORA | GO:0036315 | cellular response to sterol | 19965867 |
Tgene | RORA | GO:0045893 | positive regulation of transcription, DNA-templated | 7926749 |
Tgene | RORA | GO:0045944 | positive regulation of transcription by RNA polymerase II | 17545671|19955433 |
![]() * 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 |
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Fusion Gene ORF analysis for AKT1-RORA |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
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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) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for AKT1-RORA |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for AKT1-RORA |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:105235686/:61475729) - 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 |
. | . |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and 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 |
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Fusion Gene Sequence for AKT1-RORA |
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Fusion Gene PPI Analysis for AKT1-RORA |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for AKT1-RORA |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for AKT1-RORA |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | AKT1 | C0005586 | Bipolar Disorder | 5 | PSYGENET |
Hgene | AKT1 | C0011570 | Mental Depression | 5 | PSYGENET |
Hgene | AKT1 | C0011581 | Depressive disorder | 5 | PSYGENET |
Hgene | AKT1 | C0036341 | Schizophrenia | 5 | CTD_human;GENOMICS_ENGLAND |
Hgene | AKT1 | C0006142 | Malignant neoplasm of breast | 3 | CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | AKT1 | C0024121 | Lung Neoplasms | 3 | CTD_human |
Hgene | AKT1 | C0085261 | Proteus Syndrome | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | AKT1 | C0242379 | Malignant neoplasm of lung | 3 | CTD_human |
Hgene | AKT1 | C1140680 | Malignant neoplasm of ovary | 3 | CGI;CTD_human;GENOMICS_ENGLAND |
Hgene | AKT1 | C0021368 | Inflammation | 2 | CTD_human |
Hgene | AKT1 | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
Hgene | AKT1 | C0376358 | Malignant neoplasm of prostate | 2 | CTD_human |
Hgene | AKT1 | C0525045 | Mood Disorders | 2 | PSYGENET |
Hgene | AKT1 | C0919267 | ovarian neoplasm | 2 | CGI;CTD_human |
Hgene | AKT1 | C0006868 | Cannabis Abuse | 1 | CTD_human |
Hgene | AKT1 | C0006870 | Cannabis Dependence | 1 | CTD_human |
Hgene | AKT1 | C0007114 | Malignant neoplasm of skin | 1 | CTD_human |
Hgene | AKT1 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
Hgene | AKT1 | C0009402 | Colorectal Carcinoma | 1 | CTD_human;GENOMICS_ENGLAND |
Hgene | AKT1 | C0014544 | Epilepsy | 1 | CTD_human |
Hgene | AKT1 | C0016059 | Fibrosis | 1 | CTD_human |
Hgene | AKT1 | C0018553 | Hamartoma Syndrome, Multiple | 1 | ORPHANET |
Hgene | AKT1 | C0018614 | Hashish Abuse | 1 | CTD_human |
Hgene | AKT1 | C0018800 | Cardiomegaly | 1 | CTD_human |
Hgene | AKT1 | C0020507 | Hyperplasia | 1 | CTD_human |
Hgene | AKT1 | C0023487 | Acute Promyelocytic Leukemia | 1 | CTD_human |
Hgene | AKT1 | C0024809 | Marijuana Abuse | 1 | CTD_human |
Hgene | AKT1 | C0025286 | Meningioma | 1 | CGI;CTD_human |
Hgene | AKT1 | C0026846 | Muscular Atrophy | 1 | CTD_human |
Hgene | AKT1 | C0028754 | Obesity | 1 | CTD_human |
Hgene | AKT1 | C0030193 | Pain | 1 | CTD_human |
Hgene | AKT1 | C0032580 | Adenomatous Polyposis Coli | 1 | CTD_human |
Hgene | AKT1 | C0032927 | Precancerous Conditions | 1 | CTD_human |
Hgene | AKT1 | C0033141 | Cardiomyopathies, Primary | 1 | CTD_human |
Hgene | AKT1 | C0033937 | Psychoses, Drug | 1 | CTD_human |
Hgene | AKT1 | C0033941 | Psychoses, Substance-Induced | 1 | CTD_human |
Hgene | AKT1 | C0036529 | Myocardial Diseases, Secondary | 1 | CTD_human |
Hgene | AKT1 | C0037286 | Skin Neoplasms | 1 | CTD_human |
Hgene | AKT1 | C0079772 | T-Cell Lymphoma | 1 | CTD_human |
Hgene | AKT1 | C0086237 | Epilepsy, Cryptogenic | 1 | CTD_human |
Hgene | AKT1 | C0205834 | Meningiomas, Multiple | 1 | CTD_human |
Hgene | AKT1 | C0234230 | Pain, Burning | 1 | CTD_human |
Hgene | AKT1 | C0234238 | Ache | 1 | CTD_human |
Hgene | AKT1 | C0234254 | Radiating pain | 1 | CTD_human |
Hgene | AKT1 | C0236018 | Aura | 1 | CTD_human |
Hgene | AKT1 | C0236733 | Amphetamine-Related Disorders | 1 | CTD_human |
Hgene | AKT1 | C0236735 | Cannabis-Related Disorder | 1 | CTD_human |
Hgene | AKT1 | C0236804 | Amphetamine Addiction | 1 | CTD_human |
Hgene | AKT1 | C0236807 | Amphetamine Abuse | 1 | CTD_human |
Hgene | AKT1 | C0259785 | Malignant Meningioma | 1 | CTD_human |
Hgene | AKT1 | C0270948 | Neurogenic Muscular Atrophy | 1 | CTD_human |
Hgene | AKT1 | C0281784 | Benign Meningioma | 1 | CTD_human |
Hgene | AKT1 | C0282313 | Condition, Preneoplastic | 1 | CTD_human |
Hgene | AKT1 | C0334605 | Meningothelial meningioma | 1 | CTD_human |
Hgene | AKT1 | C0334606 | Fibrous Meningioma | 1 | CTD_human |
Hgene | AKT1 | C0334607 | Psammomatous Meningioma | 1 | CTD_human |
Hgene | AKT1 | C0334608 | Angiomatous Meningioma | 1 | CTD_human |
Hgene | AKT1 | C0334609 | Hemangioblastic Meningioma | 1 | CTD_human |
Hgene | AKT1 | C0334610 | Hemangiopericytic Meningioma | 1 | CTD_human |
Hgene | AKT1 | C0334611 | Transitional Meningioma | 1 | CTD_human |
Hgene | AKT1 | C0347515 | Spinal Meningioma | 1 | CTD_human |
Hgene | AKT1 | C0349604 | Intracranial Meningioma | 1 | CTD_human |
Hgene | AKT1 | C0428791 | Aortic valve calcification | 1 | CTD_human |
Hgene | AKT1 | C0431121 | Clear Cell Meningioma | 1 | CTD_human |
Hgene | AKT1 | C0457190 | Xanthomatous Meningioma | 1 | CTD_human |
Hgene | AKT1 | C0458257 | Pain, Splitting | 1 | CTD_human |
Hgene | AKT1 | C0458259 | Pain, Crushing | 1 | CTD_human |
Hgene | AKT1 | C0678222 | Breast Carcinoma | 1 | CGI;CTD_human |
Hgene | AKT1 | C0751111 | Awakening Epilepsy | 1 | CTD_human |
Hgene | AKT1 | C0751303 | Cerebral Convexity Meningioma | 1 | CTD_human |
Hgene | AKT1 | C0751304 | Parasagittal Meningioma | 1 | CTD_human |
Hgene | AKT1 | C0751407 | Pain, Migratory | 1 | CTD_human |
Hgene | AKT1 | C0751408 | Suffering, Physical | 1 | CTD_human |
Hgene | AKT1 | C0878544 | Cardiomyopathies | 1 | CTD_human |
Hgene | AKT1 | C1168401 | Squamous cell carcinoma of the head and neck | 1 | CTD_human |
Hgene | AKT1 | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human |
Hgene | AKT1 | C1334261 | Intraorbital Meningioma | 1 | CTD_human |
Hgene | AKT1 | C1334271 | Intraventricular Meningioma | 1 | CTD_human |
Hgene | AKT1 | C1335107 | Olfactory Groove Meningioma | 1 | CTD_human |
Hgene | AKT1 | C1383860 | Cardiac Hypertrophy | 1 | CTD_human |
Hgene | AKT1 | C1384406 | Secretory meningioma | 1 | CTD_human |
Hgene | AKT1 | C1384408 | Microcystic meningioma | 1 | CTD_human |
Hgene | AKT1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Hgene | AKT1 | C1527197 | Angioblastic Meningioma | 1 | CTD_human |
Hgene | AKT1 | C1565950 | Posterior Fossa Meningioma | 1 | CTD_human |
Hgene | AKT1 | C1565951 | Sphenoid Wing Meningioma | 1 | CTD_human |
Hgene | AKT1 | C1623038 | Cirrhosis | 1 | CTD_human |
Hgene | AKT1 | C2713442 | Polyposis, Adenomatous Intestinal | 1 | CTD_human |
Hgene | AKT1 | C2713443 | Familial Intestinal Polyposis | 1 | CTD_human |
Hgene | AKT1 | C3163622 | Papillary Meningioma | 1 | CTD_human |
Hgene | AKT1 | C3554519 | COWDEN SYNDROME 6 | 1 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | AKT1 | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |
Tgene | C0005586 | Bipolar Disorder | 5 | PSYGENET | |
Tgene | C0011581 | Depressive disorder | 3 | PSYGENET | |
Tgene | C0004352 | Autistic Disorder | 2 | CTD_human | |
Tgene | C0011570 | Mental Depression | 2 | PSYGENET | |
Tgene | C0024623 | Malignant neoplasm of stomach | 1 | CTD_human | |
Tgene | C0038356 | Stomach Neoplasms | 1 | CTD_human | |
Tgene | C0085159 | Seasonal Affective Disorder | 1 | PSYGENET | |
Tgene | C1708349 | Hereditary Diffuse Gastric Cancer | 1 | CTD_human | |
Tgene | C3714756 | Intellectual Disability | 1 | GENOMICS_ENGLAND | |
Tgene | C4748041 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA | 1 | GENOMICS_ENGLAND;UNIPROT |