chr8:38030534:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:37,888,052-37,917,883 |
| hg38 | chr8:38,030,534-38,060,365 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | chondrosarcoma | NA | BeFree | Detail | |
| <0.001 | colorectal carcinoma | NA | BeFree | Detail | |
| <0.001 | Diabetes | NA | BeFree | Detail | |
| <0.001 | diabetes mellitus | NA | BeFree | Detail | |
| <0.001 | Embolism, Tumor | EIF4EBP1 protein expression in HCC tissues is significantly correlated with seru... | BeFree | 25658620 | Detail |
| <0.001 | endometriosis | NA | BeFree | Detail | |
| <0.001 | Eosinophilia | NA | BeFree | Detail | |
| <0.001 | Esophageal Neoplasms | The relationship between Egr-1 and 4E-BP1 expression in esophageal cancer cells ... | BeFree | 25439783 | Detail |
| <0.001 | Esophageal Neoplasms | In conclusion, our findings depict the presence of activated PI3K/AKT/mTOR pathw... | BeFree | 25912437 | Detail |
| <0.001 | glioblastoma | NA | BeFree | Detail | |
| <0.001 | Glioma | NA | BeFree | Detail | |
| <0.001 | hepatitis C | NA | BeFree | Detail | |
| <0.001 | Herpes Simplex Infections | NA | BeFree | Detail | |
| 0.120 | HIV Infections | NA | CTD_human | Detail | |
| <0.001 | hyperglycemia | NA | BeFree | Detail | |
| <0.001 | Immunologic Deficiency Syndromes | NA | BeFree | Detail | |
| <0.001 | Kidney Failure, Chronic | NA | BeFree | Detail | |
| 0.120 | Kidney Neoplasm | NA | BeFree,CTD_human | Detail | |
| <0.001 | leukemia | Interestingly, we found that sensitivity of selected leukemia cells to Mnk inhib... | BeFree | 25527453 | Detail |
| 0.122 | Leukemia, Myelocytic, Acute | The mTOR targets p-4EBP1 and p-S6 were exclusively found in FLT3-ITD stem/progen... | BeFree,CTD_human | 25598437 | Detail |
| <0.001 | Myeloid Leukemia, Chronic | NA | BeFree | Detail | |
| 0.003 | acute promyelocytic leukemia | NA | LHGDN | Detail | |
| <0.001 | Lupus Erythematosus, Systemic | NA | BeFree | Detail | |
| <0.001 | lymphoma | NA | BeFree | Detail | |
| <0.001 | Lymphoma, Follicular | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of stomach | Compared with carcinoma-adjacent and paired normal tissues, the mRNA expression ... | BeFree | 25286393 | Detail |
| <0.001 | melanoma | NA | BeFree | Detail | |
| <0.001 | multiple myeloma | NA | BeFree | Detail | |
| <0.001 | muscular atrophy | NA | BeFree | Detail | |
| <0.001 | Nasal Polyps | NA | BeFree | Detail | |
| <0.001 | Neoplasm Metastasis | Here, we demonstrate that activation of cap-dependent translation by silencing t... | BeFree | 24970798 | Detail |
| 0.003 | obesity | NA | BeFree,GAD | Detail | |
| 0.003 | Prostatic Neoplasms | NA | BeFree,LHGDN | Detail | |
| <0.001 | kidney failure | NA | BeFree | Detail | |
| <0.001 | Rift Valley fever | We find that the RNA decapping enzyme NUDT16 selectively degrades 5'-TOP mRNAs d... | BeFree | 26038567 | Detail |
| <0.001 | schizoaffective disorder | NA | BeFree | Detail | |
| <0.001 | Septicemia | NA | BeFree | Detail | |
| <0.001 | Shy-Drager Syndrome | NA | BeFree | Detail | |
| 0.080 | tuberous sclerosis | NA | BeFree,RGD | Detail | |
| <0.001 | B-Cell Lymphomas | NA | BeFree | Detail | |
| <0.001 | T-Cell Lymphoma | NA | BeFree | Detail | |
| <0.001 | Atrophic condition of skin | NA | BeFree | Detail | |
| 0.080 | Myocardial Ischemia | NA | RGD | Detail | |
| <0.001 | Adenocarcinoma of lung (disorder) | NA | BeFree | Detail | |
| <0.001 | esophageal carcinoma | The relationship between Egr-1 and 4E-BP1 expression in esophageal cancer cells ... | BeFree | 25439783 | Detail |
| <0.001 | esophageal carcinoma | In conclusion, our findings depict the presence of activated PI3K/AKT/mTOR pathw... | BeFree | 25912437 | Detail |
| <0.001 | Tumor Progression | NA | BeFree | Detail | |
| <0.001 | Neuroectodermal Tumor, Primitive | We identified the expression of mTOR (28.6%), p-mTOR (52.4%), S6K (52.4%), p-S6r... | BeFree | 24002888 | Detail |
| <0.001 | adrenal cortical adenoma | NA | BeFree | Detail | |
| <0.001 | adrenocortical carcinoma | NA | BeFree | Detail | |
| <0.001 | cholangiocarcinoma | NA | BeFree | Detail | |
| <0.001 | Antisocial behavior | NA | BeFree | Detail | |
| <0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of lung | NA | BeFree | Detail | |
| <0.001 | Sepsis | NA | BeFree | Detail | |
| <0.001 | Metastatic melanoma | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of esophagus | Thus, the 4E-BP1/eIF4E ratio may represent a therapeutic index for the predictio... | BeFree | 25439783 | Detail |
| <0.001 | extraosseous Ewings sarcoma-primitive neuroepithelial tumor | We identified the expression of mTOR (28.6%), p-mTOR (52.4%), S6K (52.4%), p-S6r... | BeFree | 24002888 | Detail |
| <0.001 | Solid tumour | NA | BeFree | Detail | |
| 0.121 | Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | NA | BeFree,CTD_human | Detail | |
| <0.001 | Adenocarcinoma of colon | NA | BeFree | Detail | |
| 0.001 | Manic | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
| 0.001 | Malignant neoplasm of prostate | NA | BeFree | Detail | |
| 0.003 | multiple system atrophy | NA | BeFree,GAD | Detail | |
| <0.001 | endometrial carcinoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of esophagus | The relationship between Egr-1 and 4E-BP1 expression in esophageal cancer cells ... | BeFree | 25439783 | Detail |
| <0.001 | Malignant neoplasm of esophagus | In conclusion, our findings depict the presence of activated PI3K/AKT/mTOR pathw... | BeFree | 25912437 | Detail |
| <0.001 | Anxiety Disorders | Because the Val/Val genotype of the BDNF Val66Met polymorphism, rather than the ... | BeFree | 24021960 | Detail |
| 0.001 | Carcinogenesis | Studies have suggested that EIF4EBP1 plays a critical role in carcinogenesis. | BeFree | 25658620 | Detail |
| 0.001 | Carcinogenesis | The pre-S2 mutant initiated an MTOR-dependent glycolytic pathway, involving the ... | BeFree | 25909713 | Detail |
| 0.001 | Carcinogenesis | In conclusion, our findings depict the presence of activated PI3K/AKT/mTOR pathw... | BeFree | 25912437 | Detail |
| 0.001 | prostate carcinoma | NA | BeFree | Detail | |
| 0.002 | breast carcinoma | NA | BeFree | Detail | |
| 0.122 | Leukemia, Myelocytic, Acute | Proliferation and survival signaling from both Jak2-V617F and Lyn involving GSK3... | BeFree | 24404189 | Detail |
| <0.001 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | Ewings sarcoma-primitive neuroectodermal tumor (PNET) | We identified the expression of mTOR (28.6%), p-mTOR (52.4%), S6K (52.4%), p-S6r... | BeFree | 24002888 | Detail |
| <0.001 | colon carcinoma | NA | BeFree | Detail | |
| <0.001 | stomach carcinoma | Compared with carcinoma-adjacent and paired normal tissues, the mRNA expression ... | BeFree | 25286393 | Detail |
| <0.001 | Helicobacter pylori infection | Inhibition of PI3K and Akt kinase prevented the phosphorylation of 4E-BP1, sugge... | BeFree | 25194338 | Detail |
| <0.001 | Adenocarcinoma of lung, stage I | NA | BeFree | Detail | |
| <0.001 | attention deficit hyperactivity disorder | NA | BeFree | Detail | |
| <0.001 | Eosinophilic disorder | NA | BeFree | Detail | |
| <0.001 | Mature B-Cell Non-Hodgkin Lymphoma | NA | BeFree | Detail | |
| <0.001 | pancreatic ductal adenocarcinoma | Here, we demonstrate that treatment of PANC-1 or MiaPaCa-2 pancreatic ductal ade... | BeFree | 25673820 | Detail |
| 0.005 | Mammary Neoplasms | NA | LHGDN | Detail | |
| <0.001 | Breast Cancer Model | NA | BeFree | Detail | |
| <0.001 | Tumor Angiogenesis | NA | BeFree | Detail | |
| <0.001 | colorectal cancer | NA | BeFree | Detail | |
| <0.001 | Disorder characterized by eosinophilia | NA | BeFree | Detail | |
| <0.001 | Benign Prostatic Hyperplasia | NA | BeFree | Detail | |
| <0.001 | TUBEROUS SCLEROSIS 2 (disorder) | NA | BeFree | Detail | |
| 0.001 | liver carcinoma | We found that NAMPT inhibition by FK866 significantly activated AMPKα and inhibi... | BeFree | 25656579 | Detail |
| 0.001 | liver carcinoma | EIF4EBP1 overexpression is associated with poor survival and disease progression... | BeFree | 25658620 | Detail |
| <0.001 | Merkel Cell Polyomavirus Infection | Therefore, certain Akt/mTOR/4E-BP1 pathway signals could be novel therapeutic ta... | BeFree | 25466966 | Detail |
| <0.001 | Nasopharyngeal carcinoma | NA | BeFree | Detail | |
| <0.001 | adenoma | NA | BeFree | Detail | |
| <0.001 | Adenovirus Infections | NA | BeFree | Detail | |
| 0.005 | Alzheimer's disease | NA | GAD,LHGDN | Detail | |
| <0.001 | Anxiety Disorders | NA | BeFree | Detail | |
| 0.001 | bipolar disorder | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of breast | NA | BeFree | Detail | |
| <0.001 | Malignant tumor of colon | NA | BeFree | Detail | |
| <0.001 | Noninfiltrating Intraductal Carcinoma | NA | BeFree | Detail | |
| <0.001 | Merkel cell carcinoma | Therefore, certain Akt/mTOR/4E-BP1 pathway signals could be novel therapeutic ta... | BeFree | 25466966 | Detail |
| 0.001 | Non-small cell lung carcinoma | In addition, this study showed that NUAK1 influenced mTOR phosphorylation and in... | BeFree | 25412236 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| EIF4EBP1 protein expression in HCC tissues is significantly correlated with serum AFP (P = 0.003) an... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The relationship between Egr-1 and 4E-BP1 expression in esophageal cancer cells was also studied. | DisGeNET | Detail |
| In conclusion, our findings depict the presence of activated PI3K/AKT/mTOR pathway in esophageal can... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Interestingly, we found that sensitivity of selected leukemia cells to Mnk inhibitors is correlated ... | DisGeNET | Detail |
| The mTOR targets p-4EBP1 and p-S6 were exclusively found in FLT3-ITD stem/progenitor cells, but not ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Compared with carcinoma-adjacent and paired normal tissues, the mRNA expression levels of GOLPH3, AK... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Here, we demonstrate that activation of cap-dependent translation by silencing the translational rep... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We find that the RNA decapping enzyme NUDT16 selectively degrades 5'-TOP mRNAs during RVFV infection... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The relationship between Egr-1 and 4E-BP1 expression in esophageal cancer cells was also studied. | DisGeNET | Detail |
| In conclusion, our findings depict the presence of activated PI3K/AKT/mTOR pathway in esophageal can... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We identified the expression of mTOR (28.6%), p-mTOR (52.4%), S6K (52.4%), p-S6rp (40.5%), 4E-BP1 (8... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Thus, the 4E-BP1/eIF4E ratio may represent a therapeutic index for the prediction of clinical outcom... | DisGeNET | Detail |
| We identified the expression of mTOR (28.6%), p-mTOR (52.4%), S6K (52.4%), p-S6rp (40.5%), 4E-BP1 (8... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The relationship between Egr-1 and 4E-BP1 expression in esophageal cancer cells was also studied. | DisGeNET | Detail |
| In conclusion, our findings depict the presence of activated PI3K/AKT/mTOR pathway in esophageal can... | DisGeNET | Detail |
| Because the Val/Val genotype of the BDNF Val66Met polymorphism, rather than the other two polymorphi... | DisGeNET | Detail |
| Studies have suggested that EIF4EBP1 plays a critical role in carcinogenesis. | DisGeNET | Detail |
| The pre-S2 mutant initiated an MTOR-dependent glycolytic pathway, involving the eukaryotic translati... | DisGeNET | Detail |
| In conclusion, our findings depict the presence of activated PI3K/AKT/mTOR pathway in esophageal can... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Proliferation and survival signaling from both Jak2-V617F and Lyn involving GSK3 and mTOR/p70S6K/4EB... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We identified the expression of mTOR (28.6%), p-mTOR (52.4%), S6K (52.4%), p-S6rp (40.5%), 4E-BP1 (8... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Compared with carcinoma-adjacent and paired normal tissues, the mRNA expression levels of GOLPH3, AK... | DisGeNET | Detail |
| Inhibition of PI3K and Akt kinase prevented the phosphorylation of 4E-BP1, suggesting that PI3K sign... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Here, we demonstrate that treatment of PANC-1 or MiaPaCa-2 pancreatic ductal adenocarcinoma (PDAC) c... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We found that NAMPT inhibition by FK866 significantly activated AMPKα and inhibited the activation o... | DisGeNET | Detail |
| EIF4EBP1 overexpression is associated with poor survival and disease progression in patients with he... | DisGeNET | Detail |
| Therefore, certain Akt/mTOR/4E-BP1 pathway signals could be novel therapeutic targets for MCC regard... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Therefore, certain Akt/mTOR/4E-BP1 pathway signals could be novel therapeutic targets for MCC regard... | DisGeNET | Detail |
| In addition, this study showed that NUAK1 influenced mTOR phosphorylation and induced the phosphoryl... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs386602118 dbSNP
- Genome
- hg38
- Position
- chr8:38,030,534-38,060,365
- Variant Type
- snv
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