chr15:66386912:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:66,679,250-66,783,994 |
| hg38 | chr15:66,386,912-66,491,656 |
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 | squamous cell carcinoma | NA | BeFree | Detail | |
| <0.001 | hypertrophic cardiomyopathy | NA | BeFree | Detail | |
| 0.120 | brain ischemia | NA | CTD_human | Detail | |
| 0.003 | colorectal carcinoma | NA | BeFree | Detail | |
| 0.005 | Colorectal Neoplasms | NA | LHGDN | Detail | |
| <0.001 | Dengue Fever | Collectively, our data suggest the potential targeting of the MEK1/2 kinase as a... | BeFree | 25241249 | Detail |
| <0.001 | Dwarfism | NA | BeFree | Detail | |
| 0.002 | ectodermal dysplasia | NA | GAD | Detail | |
| <0.001 | endometriosis | NA | BeFree | Detail | |
| <0.001 | Fatty Liver | In this study, we determined whether MEK1/2 (U0126) and LXR ligand (T0901317) ca... | BeFree | 25810299 | Detail |
| <0.001 | fibrosarcoma | NA | BeFree | Detail | |
| 0.003 | gastroesophageal reflux disease | NA | LHGDN | Detail | |
| <0.001 | glioblastoma | NA | BeFree | Detail | |
| 0.003 | Glioma | NA | BeFree,GAD | Detail | |
| 0.005 | congenital heart defects | NA | GAD | Detail | |
| <0.001 | Histiocytosis, Langerhans-Cell | MAP2K1 and MAP3K1 mutations in Langerhans cell histiocytosis. | BeFree | 25899310 | Detail |
| <0.001 | Intestinal Neoplasms | NA | BeFree | Detail | |
| <0.001 | ischemia | NA | BeFree | Detail | |
| <0.001 | leukemia | NA | BeFree | Detail | |
| <0.001 | chronic lymphocytic leukemia | NA | BeFree | Detail | |
| 0.120 | hairy cell leukemia | NA | BeFree,CTD_human | Detail | |
| <0.001 | Acute lymphocytic leukemia | NA | BeFree | Detail | |
| <0.001 | Leukemia, Lymphocytic, Acute, L1 | Furthermore, we demonstrate that inhibition of MEK1/2 with trametinib increased ... | BeFree | 26324703 | Detail |
| <0.001 | Leukemia, Myelocytic, Acute | NA | BeFree | Detail | |
| <0.001 | myeloid leukemia | NA | BeFree | Detail | |
| <0.001 | Myeloid Leukemia, Chronic | NA | BeFree | Detail | |
| 0.003 | acute promyelocytic leukemia | NA | BeFree,LHGDN | Detail | |
| <0.001 | Liver neoplasms | NA | BeFree | Detail | |
| 0.080 | Liver Neoplasms, Experimental | NA | RGD | Detail | |
| 0.003 | Lung Neoplasms | NA | BeFree,LHGDN | Detail | |
| <0.001 | Lupus Vulgaris | NA | BeFree | Detail | |
| <0.001 | Lupus Erythematosus, Discoid | NA | BeFree | Detail | |
| <0.001 | Lupus Erythematosus, Systemic | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of stomach | KRAS amplification was associated with worse clinical outcomes, and the KRAS gen... | BeFree | 24935174 | Detail |
| <0.001 | Malignant neoplasm of stomach | MEK inhibitor for gastric cancer with MEK1 gene mutations. | BeFree | 25253779 | Detail |
| <0.001 | medulloblastoma | NA | BeFree | Detail | |
| 0.002 | Mental Retardation | NA | GAD | Detail | |
| <0.001 | Mesothelioma | NA | BeFree | Detail | |
| 0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
| 0.129 | Noonan syndrome | NA | BeFree,CTD_human,GAD,LHGDN | Detail | |
| <0.001 | ocular hypertension | NA | BeFree | Detail | |
| 0.001 | ovarian carcinoma | We identified MEK1 as a promising prognostic biomarker candidate correlated to r... | BeFree | 25408231 | Detail |
| 0.080 | Prostatic Neoplasms | NA | RGD | Detail | |
| 0.002 | Skin Abnormalities | NA | GAD | Detail | |
| <0.001 | urticaria | NA | BeFree | Detail | |
| <0.001 | yellow fever | Collectively, our data suggest the potential targeting of the MEK1/2 kinase as a... | BeFree | 25241249 | Detail |
| <0.001 | Neurofibrillary degeneration (morphologic abnormality) | NA | BeFree | Detail | |
| 0.121 | Adenocarcinoma of lung (disorder) | Data were reviewed for patients with advanced lung adenocarcinomas enrolled in t... | BeFree,CTD_human | 25273224 | Detail |
| 0.121 | Adenocarcinoma of lung (disorder) | MAP2K1 (MEK1) Mutations Define a Distinct Subset of Lung Adenocarcinoma Associat... | BeFree,CTD_human | 25351745 | Detail |
| <0.001 | Malignant neoplasm of nasopharynx | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of pharynx | NA | BeFree | Detail | |
| 0.003 | LEOPARD Syndrome | A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with mult... | BeFree,GAD | 25423878 | Detail |
| <0.001 | Tumor Progression | NA | BeFree | Detail | |
| <0.001 | Adenocarcinoma, Clear Cell | NA | BeFree | Detail | |
| 0.003 | cholangiocarcinoma | NA | BeFree,LHGDN | Detail | |
| <0.001 | Welts | NA | BeFree | Detail | |
| <0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
| <0.001 | Gastrointestinal Stromal Tumors | NA | BeFree | Detail | |
| <0.001 | Cancer of Nasopharynx | NA | BeFree | Detail | |
| <0.001 | Papillary thyroid carcinoma | Treatment of PTC cell lines with the MEK1/2 inhibitor selumetinib or IFN increas... | BeFree | 25294906 | Detail |
| <0.001 | Dyslipidemias | Wild-type mice were used to determine the effect of U0126 on a high-fat diet or ... | BeFree | 25810299 | Detail |
| 0.005 | Malignant neoplasm of lung | Data were reviewed for patients with advanced lung adenocarcinomas enrolled in t... | BeFree,GAD | 25273224 | Detail |
| 0.005 | Malignant neoplasm of lung | MEK1 mutations define a distinct subset of lung cancers (∼1%) with potential sen... | BeFree,GAD | 25351745 | Detail |
| 0.005 | Malignant neoplasm of lung | These findings warrant further studies of clinical applications of MEK1/2 inhibi... | BeFree,GAD | 25541062 | Detail |
| <0.001 | Endometrioma | NA | BeFree | Detail | |
| 0.001 | Metastatic melanoma | Data from four published datasets were analyzed to determine whether preexisting... | BeFree | 25370473 | Detail |
| 0.001 | Metastatic melanoma | Agents that target the RAS/RAF/MEK/ERK (MAPK) signaling pathway - the BRAF inhib... | BeFree | 25597784 | Detail |
| <0.001 | Liver and Intrahepatic Biliary Tract Carcinoma | NA | BeFree | Detail | |
| <0.001 | anaplastic astrocytoma | NA | BeFree | Detail | |
| <0.001 | senile angioma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of liver | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of prostate | NA | BeFree | Detail | |
| <0.001 | lupus erythematosus | NA | BeFree | Detail | |
| 0.001 | Thyroid carcinoma | To investigate this, we used mass spectrometry to complete a global phosphoprote... | BeFree | 24825855 | Detail |
| 0.121 | Costello syndrome (disorder) | NA | BeFree,CTD_human | Detail | |
| <0.001 | audiogenic seizure | NA | BeFree | Detail | |
| 0.002 | Carcinogenesis | NA | BeFree | Detail | |
| <0.001 | Leukemogenesis | NA | BeFree | Detail | |
| <0.001 | prostate carcinoma | NA | BeFree | Detail | |
| <0.001 | Epithelial ovarian cancer | MEK1 is associated with carboplatin resistance and is a prognostic biomarker in ... | BeFree | 25408231 | Detail |
| 0.002 | breast carcinoma | NA | BeFree | Detail | |
| 0.002 | Carcinoma of lung | Data were reviewed for patients with advanced lung adenocarcinomas enrolled in t... | BeFree | 25273224 | Detail |
| 0.002 | Carcinoma of lung | MEK1 mutations define a distinct subset of lung cancers (∼1%) with potential sen... | BeFree | 25351745 | Detail |
| 0.002 | Carcinoma of lung | These findings warrant further studies of clinical applications of MEK1/2 inhibi... | BeFree | 25541062 | Detail |
| 0.001 | colon carcinoma | NA | BeFree | Detail | |
| <0.001 | stomach carcinoma | KRAS amplification was associated with worse clinical outcomes, and the KRAS gen... | BeFree | 24935174 | Detail |
| <0.001 | stomach carcinoma | MEK inhibitor for gastric cancer with MEK1 gene mutations. | BeFree | 25253779 | Detail |
| <0.001 | Carcinoma of bladder | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of kidney | NA | BeFree | Detail | |
| <0.001 | Pharyngeal Carcinoma | NA | BeFree | Detail | |
| 0.003 | ovarian neoplasm | NA | LHGDN | Detail | |
| <0.001 | Thyroid cancer metastatic | NA | BeFree | Detail | |
| 0.001 | Malignant neoplasm of ovary | We identified MEK1 as a promising prognostic biomarker candidate correlated to r... | BeFree | 25408231 | Detail |
| <0.001 | sarcoma | NA | BeFree | Detail | |
| 0.244 | Cardio-facio-cutaneous syndrome | He was found to have a novel heterozygous missense variant (c.305A > G; p.E102G)... | BeFree,CTD_human,ORPHANET | 25423878 | Detail |
| <0.001 | Central nervous system leukaemia | NA | BeFree | Detail | |
| <0.001 | pancreatic ductal adenocarcinoma | Previous studies have demonstrated that combinatorial treatment of PDAC xenograf... | BeFree | 25117978 | Detail |
| <0.001 | pancreatic ductal adenocarcinoma | Although single inhibition of each RTK alone or plus MEK1 inhibitors was ineffec... | BeFree | 25736685 | Detail |
| <0.001 | Epithelioma | NA | BeFree | Detail | |
| <0.001 | renal carcinoma | NA | BeFree | Detail | |
| <0.001 | Hepatocarcinogenesis | NA | BeFree | Detail | |
| <0.001 | Cancer Cell Growth | NA | BeFree | Detail | |
| 0.003 | colorectal cancer | NA | BeFree | Detail | |
| <0.001 | tumor vasculature | NA | BeFree | Detail | |
| <0.001 | Precursor Cell Lymphoblastic Leukemia Lymphoma | NA | BeFree | Detail | |
| <0.001 | liver carcinoma | NA | BeFree | Detail | |
| <0.001 | Nasopharyngeal carcinoma | NA | BeFree | Detail | |
| 0.003 | adenocarcinoma | NA | BeFree,LHGDN | Detail | |
| 0.005 | Alzheimer's disease | NA | LHGDN | Detail | |
| 0.005 | Anoxia | NA | LHGDN | Detail | |
| <0.001 | anthrax disease | NA | BeFree | Detail | |
| <0.001 | aortic valve insufficiency | NA | BeFree | Detail | |
| <0.001 | arteriosclerosis | Our study suggests that the combination of mitogen-activated protein kinase kina... | BeFree | 25810299 | Detail |
| <0.001 | rheumatoid arthritis | NA | BeFree | Detail | |
| <0.001 | Astrocytoma | NA | BeFree | Detail | |
| <0.001 | atherosclerosis | Our study suggests that the combination of mitogen-activated protein kinase kina... | BeFree | 25810299 | Detail |
| <0.001 | Malignant tumor of colon | DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus G... | BeFree | 23027623 | Detail |
| <0.001 | Rectal Carcinoma | DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus G... | BeFree | 23027623 | Detail |
| 0.001 | colon carcinoma | DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus G... | BeFree | 23027623 | Detail |
| <0.001 | Malignant neoplasm of urinary bladder | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of breast | NA | BeFree | Detail | |
| 0.003 | Carcinoid Tumor | NA | LHGDN | Detail | |
| <0.001 | Malignant tumor of colon | NA | BeFree | Detail | |
| <0.001 | Rectal Carcinoma | NA | BeFree | Detail | |
| 0.001 | Malignant neoplasm of thyroid | To investigate this, we used mass spectrometry to complete a global phosphoprote... | BeFree | 24825855 | Detail |
| <0.001 | Merkel cell carcinoma | NA | BeFree | Detail | |
| 0.002 | Non-small cell lung carcinoma | Cisplatin increased phosphorylation of MEK1/2 and ERK1/2 and reduced Bcl-2 like ... | BeFree | 25541062 | Detail |
| 0.002 | Non-small cell lung carcinoma | Furthermore, expression of constitutively active MKK1 (MKK1-CA) vectors signific... | BeFree | 26212550 | Detail |
| <0.001 | renal cell carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Collectively, our data suggest the potential targeting of the MEK1/2 kinase as a therapeutic tool ag... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In this study, we determined whether MEK1/2 (U0126) and LXR ligand (T0901317) can have a synergistic... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| MAP2K1 and MAP3K1 mutations in Langerhans cell histiocytosis. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Furthermore, we demonstrate that inhibition of MEK1/2 with trametinib increased sensitivity of ALL c... | 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 |
| NA | DisGeNET | Detail |
| KRAS amplification was associated with worse clinical outcomes, and the KRAS gene mutation predicted... | DisGeNET | Detail |
| MEK inhibitor for gastric cancer with MEK1 gene mutations. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We identified MEK1 as a promising prognostic biomarker candidate correlated to response to platinum ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Collectively, our data suggest the potential targeting of the MEK1/2 kinase as a therapeutic tool ag... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Data were reviewed for patients with advanced lung adenocarcinomas enrolled in the Lung Cancer Mutat... | DisGeNET | Detail |
| MAP2K1 (MEK1) Mutations Define a Distinct Subset of Lung Adenocarcinoma Associated with Smoking. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Treatment of PTC cell lines with the MEK1/2 inhibitor selumetinib or IFN increased HLA-ABC expressio... | DisGeNET | Detail |
| Wild-type mice were used to determine the effect of U0126 on a high-fat diet or high-fat diet plus T... | DisGeNET | Detail |
| Data were reviewed for patients with advanced lung adenocarcinomas enrolled in the Lung Cancer Mutat... | DisGeNET | Detail |
| MEK1 mutations define a distinct subset of lung cancers (∼1%) with potential sensitivity to MEK inhi... | DisGeNET | Detail |
| These findings warrant further studies of clinical applications of MEK1/2 inhibitors in cisplatin-ba... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Data from four published datasets were analyzed to determine whether preexisting MEK1(P124) mutation... | DisGeNET | Detail |
| Agents that target the RAS/RAF/MEK/ERK (MAPK) signaling pathway - the BRAF inhibitors vemurafenib an... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| To investigate this, we used mass spectrometry to complete a global phosphoproteomic analysis of a B... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| MEK1 is associated with carboplatin resistance and is a prognostic biomarker in epithelial ovarian c... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Data were reviewed for patients with advanced lung adenocarcinomas enrolled in the Lung Cancer Mutat... | DisGeNET | Detail |
| MEK1 mutations define a distinct subset of lung cancers (∼1%) with potential sensitivity to MEK inhi... | DisGeNET | Detail |
| These findings warrant further studies of clinical applications of MEK1/2 inhibitors in cisplatin-ba... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| KRAS amplification was associated with worse clinical outcomes, and the KRAS gene mutation predicted... | DisGeNET | Detail |
| MEK inhibitor for gastric cancer with MEK1 gene mutations. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We identified MEK1 as a promising prognostic biomarker candidate correlated to response to platinum ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| He was found to have a novel heterozygous missense variant (c.305A > G; p.E102G) in MAP2K1, a gene m... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Previous studies have demonstrated that combinatorial treatment of PDAC xenografts with the mitogen-... | DisGeNET | Detail |
| Although single inhibition of each RTK alone or plus MEK1 inhibitors was ineffective, a combination ... | 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 |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our study suggests that the combination of mitogen-activated protein kinase kinase 1/2 inhibitor and... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our study suggests that the combination of mitogen-activated protein kinase kinase 1/2 inhibitor and... | DisGeNET | Detail |
| DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus GG/GA), MAP3K10 rs112... | DisGeNET | Detail |
| DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus GG/GA), MAP3K10 rs112... | DisGeNET | Detail |
| DUSP2 rs1724120 [hazard rate ratio (HRR) = 0.72, 95%CI = 0.54, 0.96; AA versus GG/GA), MAP3K10 rs112... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| To investigate this, we used mass spectrometry to complete a global phosphoproteomic analysis of a B... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Cisplatin increased phosphorylation of MEK1/2 and ERK1/2 and reduced Bcl-2 like 11 (BIM) expression ... | DisGeNET | Detail |
| Furthermore, expression of constitutively active MKK1 (MKK1-CA) vectors significantly rescued the de... | DisGeNET | Detail |
| NA | 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
- rs112956 dbSNP
- Genome
- hg38
- Position
- chr15:66,386,912-66,491,656
- Variant Type
- snv
Genome browser