chr3:47057918:> Detail (hg19)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:47,057,918-47,205,603 |
hg38 | chr3:47,016,428-47,164,113 |
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 | carotid stenosis | NA | BeFree | Detail | |
<0.001 | cerebral infarction | NA | BeFree | Detail | |
<0.001 | Malignant tumor of cervix | NA | BeFree | Detail | |
<0.001 | Congenital chromosomal disease | NA | BeFree | Detail | |
<0.001 | colitis | NA | BeFree | Detail | |
<0.001 | ulcerative colitis | NA | BeFree | Detail | |
0.001 | colorectal carcinoma | NA | BeFree | Detail | |
<0.001 | Colorectal Neoplasms | NA | BeFree | Detail | |
<0.001 | Coronary Arteriosclerosis | NA | BeFree | Detail | |
<0.001 | Coronary heart disease | NA | BeFree | Detail | |
0.120 | adenoid cystic carcinoma | NA | CTD_human | Detail | |
0.120 | Phyllodes Tumor | NA | CTD_human | Detail | |
<0.001 | Fatty Liver | NA | BeFree | Detail | |
<0.001 | gastritis | Myeloid HIF-1 is protective in Helicobacter pylori-mediated gastritis. | BeFree | 25710915 | Detail |
0.002 | glioblastoma | NA | BeFree | Detail | |
0.002 | Glioma | NA | BeFree | Detail | |
<0.001 | Heart failure | NA | BeFree | Detail | |
<0.001 | congestive heart failure | NA | BeFree | Detail | |
<0.001 | hemangioma | NA | BeFree | Detail | |
0.002 | Von Hippel-Lindau syndrome | We performed immunohistochemical studies on 23 hemangioblastomas, 13 meningiomas... | BeFree | 25310734 | Detail |
<0.001 | HIV Infections | NA | BeFree | Detail | |
<0.001 | hyperglycemia | NA | BeFree | Detail | |
<0.001 | Hypertensive disease | Dysregulation of HIF-1- and HIF-2-mediated transcription leads to imbalance of p... | BeFree | 25772710 | Detail |
<0.001 | pulmonary hypertension | NA | BeFree | Detail | |
<0.001 | hypoglycemia | NA | BeFree | Detail | |
<0.001 | Inflammatory Bowel Diseases | NA | BeFree | Detail | |
0.004 | ischemia | NA | BeFree | Detail | |
<0.001 | Kidney Diseases | NA | BeFree | Detail | |
<0.001 | Kidney Neoplasm | NA | BeFree | Detail | |
0.121 | leukemia | Histone methyltransferases, including MLL1, DOT1L, EZH2, and SETD2 are recurrent... | BeFree,CTD_human | 25592767 | Detail |
<0.001 | Acute lymphocytic leukemia | Mutations in epigenetic regulators including SETD2 are gained during relapse in ... | BeFree | 24662245 | Detail |
<0.001 | Leukemia, Myelocytic, Acute | ESKM was more potent in vivo against JMN mesothelioma, and effective against SET... | BeFree | 24850840 | Detail |
<0.001 | Leukemia, Myelomonocytic, Chronic | NA | BeFree | Detail | |
0.003 | Liver neoplasms | NA | BeFree | Detail | |
<0.001 | lymphoma | NA | BeFree | Detail | |
0.002 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
0.002 | melanoma | NA | BeFree | Detail | |
<0.001 | Melanoma, Experimental | NA | BeFree | Detail | |
<0.001 | multiple myeloma | NA | BeFree | Detail | |
<0.001 | myocardial infarction | NA | BeFree | Detail | |
0.010 | Neoplasm Metastasis | Intratumoral hypoxia followed by stabilization/activation of hypoxia-inducible f... | BeFree | 25506893 | Detail |
<0.001 | neuroblastoma | NA | BeFree | Detail | |
0.002 | ovarian carcinoma | Hypoxia-inducible factor-1 (HIF-1) is one of the most promising pharmacological ... | BeFree | 25756515 | Detail |
<0.001 | Pancreatic Neoplasm | The aim of study was to discuss the correlation and regulatory mechanism of HIF-... | BeFree | 25119596 | Detail |
<0.001 | peritonitis | NA | BeFree | Detail | |
<0.001 | pheochromocytoma | NA | BeFree | Detail | |
<0.001 | polycythemia | NA | BeFree | Detail | |
<0.001 | Precancerous Conditions | NA | BeFree | Detail | |
<0.001 | progeria | NA | BeFree | Detail | |
<0.001 | pulmonary fibrosis | NA | BeFree | Detail | |
<0.001 | retinal degeneration | NA | BeFree | Detail | |
0.003 | schizophrenia | NA | BeFree,GAD | Detail | |
<0.001 | systemic scleroderma | NA | BeFree | Detail | |
<0.001 | Skin Diseases, Infectious | NA | BeFree | Detail | |
<0.001 | Stomach Neoplasms | NA | BeFree | Detail | |
0.001 | Cerebrovascular accident | Collectively, these results demonstrate that NCX1 expression is regulated by the... | BeFree | 25972164 | Detail |
<0.001 | Thrombocythemia, Essential | NA | BeFree | Detail | |
<0.001 | thymoma | Genes in histone modification [BAP1 (n = 6; 13%), SETD2 (n = 5; 11%), ASXL1 (n =... | BeFree | 25482724 | Detail |
<0.001 | ureteral obstruction | NA | BeFree | Detail | |
<0.001 | Vascular Diseases | NA | BeFree | Detail | |
<0.001 | Ichthyosis, X-Linked | NA | BeFree | Detail | |
<0.001 | acute leukemia | NA | BeFree | Detail | |
<0.001 | Adenocarcinoma of rectum | NA | BeFree | Detail | |
<0.001 | Myocardial Ischemia | NA | BeFree | Detail | |
<0.001 | Adenocarcinoma of lung (disorder) | NA | BeFree | Detail | |
<0.001 | esophageal carcinoma | NA | BeFree | Detail | |
<0.001 | Secondary malignant neoplasm of bone | NA | BeFree | Detail | |
0.120 | Sotos' syndrome | NA | ORPHANET | Detail | |
0.009 | Tumor Progression | As one of the major mediators of hypoxic response, hypoxia inducible factor-1 (H... | BeFree | 25101278 | Detail |
0.009 | Tumor Progression | HIF-1-mediated suppression of acyl-CoA dehydrogenases and fatty acid oxidation i... | BeFree | 25242319 | Detail |
0.009 | Tumor Progression | As NSD1 and SETD2 are known tumor suppressors and loss of H4K20 trimethylation i... | BeFree | 25611383 | Detail |
<0.001 | thymic carcinoma | Genes in histone modification [BAP1 (n = 6; 13%), SETD2 (n = 5; 11%), ASXL1 (n =... | BeFree | 25482724 | Detail |
<0.001 | Pneumonia, Interstitial | NA | BeFree | Detail | |
<0.001 | Adenocarcinoma, Clear Cell | NA | BeFree | Detail | |
<0.001 | hemangioblastoma | Expression of HIF-1 regulated proteins vascular endothelial growth factor, carbo... | BeFree | 25310734 | Detail |
<0.001 | uveal melanoma | NA | BeFree | Detail | |
0.003 | pancreatic carcinoma | Expression of HIF-1 in pancreatic cancer cells increased under the condition of ... | BeFree | 25119596 | Detail |
0.003 | pancreatic carcinoma | This study has investigated the effect of lentiviral vector-mediated RNA interfe... | BeFree | 25853522 | Detail |
<0.001 | hemangioma of liver | NA | BeFree | Detail | |
<0.001 | Acute mountain sickness | NA | BeFree | Detail | |
<0.001 | Papillary thyroid carcinoma | NA | BeFree | Detail | |
<0.001 | Iron deficiency | NA | BeFree | Detail | |
0.001 | Malignant neoplasm of lung | Endometral carcinoma is the most common malignant tumor of the female genital tr... | BeFree | 25556481 | Detail |
0.001 | Malignant neoplasm of lung | In addition, PA-12 blocked the nuclear translocalization of PKM2 in lung cancer ... | BeFree | 25813626 | Detail |
<0.001 | Carcinoma breast stage IV | NA | BeFree | Detail | |
<0.001 | Metastatic melanoma | NA | BeFree | Detail | |
<0.001 | Liver and Intrahepatic Biliary Tract Carcinoma | SIRT1 expression was associated with HIF1 protein accumulation in both the NBNC ... | BeFree | 25736100 | Detail |
0.004 | Conventional (Clear Cell) Renal Cell Carcinoma | In agreement, SETD2-mutant clear cell renal cell carcinoma (ccRCC) cells display... | BeFree | 24843002 | Detail |
0.004 | Conventional (Clear Cell) Renal Cell Carcinoma | Loss of MLH1 confers resistance to PI3Kβ inhibitors in renal clear cell carcinom... | BeFree | 25528216 | Detail |
0.004 | Conventional (Clear Cell) Renal Cell Carcinoma | miR-106b-5p targets tumor suppressor gene SETD2 to inactive its function in clea... | BeFree | 25714014 | Detail |
0.004 | Conventional (Clear Cell) Renal Cell Carcinoma | TGX221 is a novel inhibitor with high selectivity for ccRCC with VHL and SETD2 m... | BeFree | 25853938 | Detail |
0.004 | Conventional (Clear Cell) Renal Cell Carcinoma | PBRM1 was found to be mutated in about 40% of ccRCC tumors, whereas BAP1 and SET... | BeFree | 25873528 | Detail |
0.004 | Conventional (Clear Cell) Renal Cell Carcinoma | High selectivity of PI3Kβ inhibitors in SETD2-mutated renal clear cell carcinoma... | BeFree | 26537074 | Detail |
0.004 | Solid tumour | Hypoxia-inducible factor-1 (HIF-1) is a key heterodimeric transcription factor f... | BeFree | 24916276 | Detail |
<0.001 | Adenocarcinoma of pancreas | NA | BeFree | Detail | |
<0.001 | cervix carcinoma | NA | BeFree | Detail | |
<0.001 | anaplastic astrocytoma | NA | BeFree | Detail | |
<0.001 | Adenocarcinoma of colon | The BH3-mimetic obatoclax reduces HIF-1α levels and HIF-1 transcriptional activi... | BeFree | 25979228 | Detail |
<0.001 | Malignant neoplasm of liver | SIRT1 expression was associated with HIF1 protein accumulation in both the NBNC ... | BeFree | 25736100 | Detail |
0.004 | Malignant neoplasm of pancreas | Expression of HIF-1 in pancreatic cancer cells increased under the condition of ... | BeFree | 25119596 | Detail |
0.004 | Malignant neoplasm of pancreas | This study has investigated the effect of lentiviral vector-mediated RNA interfe... | BeFree | 25853522 | Detail |
<0.001 | Trichoepithelioma | We used immunohistochemical staining of formalin-fixed paraffin-embedded BCC (n ... | BeFree | 25181405 | Detail |
<0.001 | Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site | Myeloid HIF-1 is protective in Helicobacter pylori-mediated gastritis. | BeFree | 25710915 | Detail |
0.004 | Malignant neoplasm of prostate | NA | BeFree | Detail | |
<0.001 | endometrial carcinoma | 75 patients with endometrial carcinoma and 75 patients whose underwent hysterect... | BeFree | 25556481 | Detail |
<0.001 | Secondary malignant neoplasm of liver | NA | BeFree | Detail | |
<0.001 | Thyroid carcinoma | NA | BeFree | Detail | |
<0.001 | Malignant glioma | NA | BeFree | Detail | |
0.009 | Carcinogenesis | In our study, we examined a new therapeutic alternative in the treatment of mult... | BeFree | 24627437 | Detail |
0.009 | Carcinogenesis | As one of the major mediators of hypoxic response, hypoxia inducible factor-1 (H... | BeFree | 25101278 | Detail |
0.009 | Carcinogenesis | To examine whether HIF-1 is involved in the tumorigenesis of RMG-1 cells, we est... | BeFree | 25756515 | Detail |
0.009 | Carcinogenesis | Repression of ERβ contributes to tumorigenesis because it enables HIF-1/VEGF sig... | BeFree | 25818291 | Detail |
<0.001 | Leukemogenesis | NA | BeFree | Detail | |
0.004 | prostate carcinoma | NA | BeFree | Detail | |
<0.001 | Chronic myeloproliferative disorder | We screened 79 acute myeloid leukemia (AML) cell lines and found five positive f... | BeFree | 16408098 | Detail |
<0.001 | Epithelial ovarian cancer | NA | BeFree | Detail | |
<0.001 | Progressive Neoplastic Disease | NA | BeFree | Detail | |
0.005 | breast carcinoma | Human breast cancer database analysis revealed that increased expression (greate... | BeFree | 25587023 | Detail |
0.002 | Carcinoma of lung | Endometral carcinoma is the most common malignant tumor of the female genital tr... | BeFree | 25556481 | Detail |
0.002 | Carcinoma of lung | In addition, PA-12 blocked the nuclear translocalization of PKM2 in lung cancer ... | BeFree | 25813626 | Detail |
<0.001 | Secondary malignant neoplasm of lymph node | FOXP1 expression was significantly correlated with the expression of HIF1 and VE... | BeFree | 25778315 | Detail |
0.002 | colon carcinoma | Colon cancer cell response to the BH3-mimetic was unmodified by HIF-1 activation... | BeFree | 25979228 | Detail |
0.002 | stomach carcinoma | NA | BeFree | Detail | |
<0.001 | Central neuroblastoma | NA | BeFree | Detail | |
<0.001 | Malignant neoplasm of kidney | NA | BeFree | Detail | |
<0.001 | Cardiac defects | NA | BeFree | Detail | |
<0.001 | malignant pleural mesothelioma | NA | BeFree | Detail | |
<0.001 | Invasive breast carcinoma | NA | BeFree | Detail | |
<0.001 | Stromal Neoplasm | NA | BeFree | Detail | |
<0.001 | Cerebral Ischemia | NA | BeFree | Detail | |
<0.001 | ovarian neoplasm | NA | BeFree | Detail | |
0.120 | Microsatellite Instability | NA | CTD_human | Detail | |
<0.001 | Spondylarthropathies | NA | BeFree | Detail | |
0.002 | Malignant neoplasm of ovary | Hypoxia-inducible factor-1 (HIF-1) is one of the most promising pharmacological ... | BeFree | 25756515 | Detail |
<0.001 | Squamous cell carcinoma of the head and neck | NA | BeFree | Detail | |
<0.001 | sarcoma | NA | BeFree | Detail | |
<0.001 | Chronic myeloproliferative disorder | NA | BeFree | Detail | |
<0.001 | Staphylococcus aureus infection | NA | BeFree | Detail | |
<0.001 | Thymoma, type C | Genes in histone modification [BAP1 (n = 6; 13%), SETD2 (n = 5; 11%), ASXL1 (n =... | BeFree | 25482724 | Detail |
<0.001 | Hereditary Nonpolyposis Colorectal Cancer | NA | BeFree | Detail | |
<0.001 | Non-Hereditary Clear Cell Renal Cell Carcinoma | NA | BeFree | Detail | |
<0.001 | pancreatic ductal adenocarcinoma | NA | BeFree | Detail | |
<0.001 | Papillary renal cell carcinoma, sporadic | NA | BeFree | Detail | |
0.001 | renal carcinoma | NA | BeFree | Detail | |
0.120 | Mammary Neoplasms | NA | BeFree,CTD_human | Detail | |
<0.001 | Angiogenic Switch | NA | BeFree | Detail | |
0.007 | Tumor Angiogenesis | During tumor progression, hypoxia-inducible factor 1 (HIF-1) plays a critical ro... | BeFree | 26297910 | Detail |
<0.001 | Tumor Expansion | NA | BeFree | Detail | |
<0.001 | Tumor Promotion | NA | BeFree | Detail | |
0.001 | colorectal cancer | NA | BeFree | Detail | |
<0.001 | cancer angiogenesis | NA | BeFree | Detail | |
0.001 | Glioblastoma multiforme | NA | BeFree | Detail | |
<0.001 | tumor vasculature | NA | BeFree | Detail | |
<0.001 | ABLEPHARON-MACROSTOMIA SYNDROME | NA | BeFree | Detail | |
<0.001 | uterine corpus cancer | In this study, we aimed to investigate the association between HIF-1 1772 C/T po... | BeFree | 25556481 | Detail |
0.006 | liver carcinoma | We also summarized the latest findings concerning the role of HIF-1 in the devel... | BeFree | 25101278 | Detail |
0.006 | liver carcinoma | Hypoxia inducible factor-1 (HIF-1) is one of the key mediators of the hypoxia si... | BeFree | 25531114 | Detail |
0.006 | liver carcinoma | Thus, NF-κB both positively and negatively fine-tuned HIF-1 in hypoxic hepatocar... | BeFree | 25823824 | Detail |
<0.001 | aggressive cancer | NA | BeFree | Detail | |
<0.001 | Progressive cGVHD | NA | BeFree | Detail | |
<0.001 | Triple Negative Breast Neoplasms | NA | BeFree | Detail | |
<0.001 | Experimental Organism Basal Cell Carcinoma | We used immunohistochemical staining of formalin-fixed paraffin-embedded BCC (n ... | BeFree | 25181405 | Detail |
<0.001 | Tumors in animals | NA | BeFree | Detail | |
<0.001 | Abscess | NA | BeFree | Detail | |
<0.001 | adenocarcinoma | NA | BeFree | Detail | |
<0.001 | adenoma | NA | BeFree | Detail | |
<0.001 | anemia | NA | BeFree | Detail | |
<0.001 | arteriosclerosis | NA | BeFree | Detail | |
<0.001 | rheumatoid arthritis | NA | BeFree | Detail | |
<0.001 | Astrocytoma | NA | BeFree | Detail | |
<0.001 | atherosclerosis | NA | BeFree | Detail | |
<0.001 | Bacterial Infections | NA | BeFree | Detail | |
0.006 | Malignant neoplasm of breast | Human breast cancer database analysis revealed that increased expression (greate... | BeFree | 25587023 | Detail |
0.002 | Malignant tumor of colon | Colon cancer cell response to the BH3-mimetic was unmodified by HIF-1 activation... | BeFree | 25979228 | Detail |
<0.001 | Malignant neoplasm of endometrium | In this study, we aimed to investigate the association between HIF-1 1772 C/T po... | BeFree | 25556481 | Detail |
<0.001 | Rectal Carcinoma | NA | BeFree | Detail | |
<0.001 | Non-small cell lung carcinoma | NA | BeFree | Detail | |
<0.001 | Carcinoma, Papillary | NA | BeFree | Detail | |
0.124 | renal cell carcinoma | MOTIF analysis of aberrantly hypermethylated regions revealed enrichment for bin... | BeFree,CTD_human | 24916699 | Detail |
0.124 | renal cell carcinoma | PI3Kβ inhibitor TGX221 selectively inhibits renal cell carcinoma cells with both... | BeFree,CTD_human | 25853938 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
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 |
Myeloid HIF-1 is protective in Helicobacter pylori-mediated gastritis. | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
We performed immunohistochemical studies on 23 hemangioblastomas, 13 meningiomas and 4 hemangioperic... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Dysregulation of HIF-1- and HIF-2-mediated transcription leads to imbalance of pro-oxidant and anti-... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Histone methyltransferases, including MLL1, DOT1L, EZH2, and SETD2 are recurrently deregulated in hu... | DisGeNET | Detail |
Mutations in epigenetic regulators including SETD2 are gained during relapse in paediatric acute lym... | DisGeNET | Detail |
ESKM was more potent in vivo against JMN mesothelioma, and effective against SET2 AML and fresh ALL ... | 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 |
Intratumoral hypoxia followed by stabilization/activation of hypoxia-inducible factor 1 (HIF-1) and ... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Hypoxia-inducible factor-1 (HIF-1) is one of the most promising pharmacological targets for all type... | DisGeNET | Detail |
The aim of study was to discuss the correlation and regulatory mechanism of HIF-1 and miR-191 expres... | 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 |
Collectively, these results demonstrate that NCX1 expression is regulated by the Sp3/REST/HDAC1/HDAC... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Genes in histone modification [BAP1 (n = 6; 13%), SETD2 (n = 5; 11%), ASXL1 (n = 2; 4%)], chromatin ... | 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 |
As one of the major mediators of hypoxic response, hypoxia inducible factor-1 (HIF-1) has been shown... | DisGeNET | Detail |
HIF-1-mediated suppression of acyl-CoA dehydrogenases and fatty acid oxidation is critical for cance... | DisGeNET | Detail |
As NSD1 and SETD2 are known tumor suppressors and loss of H4K20 trimethylation is an early event in ... | DisGeNET | Detail |
Genes in histone modification [BAP1 (n = 6; 13%), SETD2 (n = 5; 11%), ASXL1 (n = 2; 4%)], chromatin ... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Expression of HIF-1 regulated proteins vascular endothelial growth factor, carbonic anhydrase IX and... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Expression of HIF-1 in pancreatic cancer cells increased under the condition of chronic hypoxia, whi... | DisGeNET | Detail |
This study has investigated the effect of lentiviral vector-mediated RNA interference (RNAi) targeti... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Endometral carcinoma is the most common malignant tumor of the female genital tract and the fourth m... | DisGeNET | Detail |
In addition, PA-12 blocked the nuclear translocalization of PKM2 in lung cancer cells, resulting in ... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
SIRT1 expression was associated with HIF1 protein accumulation in both the NBNC liver and liver canc... | DisGeNET | Detail |
In agreement, SETD2-mutant clear cell renal cell carcinoma (ccRCC) cells displayed impaired DNA dama... | DisGeNET | Detail |
Loss of MLH1 confers resistance to PI3Kβ inhibitors in renal clear cell carcinoma with SETD2 mutatio... | DisGeNET | Detail |
miR-106b-5p targets tumor suppressor gene SETD2 to inactive its function in clear cell renal cell ca... | DisGeNET | Detail |
TGX221 is a novel inhibitor with high selectivity for ccRCC with VHL and SETD2 mutations. | DisGeNET | Detail |
PBRM1 was found to be mutated in about 40% of ccRCC tumors, whereas BAP1 and SETD2 were each mutated... | DisGeNET | Detail |
High selectivity of PI3Kβ inhibitors in SETD2-mutated renal clear cell carcinoma. | DisGeNET | Detail |
Hypoxia-inducible factor-1 (HIF-1) is a key heterodimeric transcription factor for the cellular adap... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
The BH3-mimetic obatoclax reduces HIF-1α levels and HIF-1 transcriptional activity and sensitizes hy... | DisGeNET | Detail |
SIRT1 expression was associated with HIF1 protein accumulation in both the NBNC liver and liver canc... | DisGeNET | Detail |
Expression of HIF-1 in pancreatic cancer cells increased under the condition of chronic hypoxia, whi... | DisGeNET | Detail |
This study has investigated the effect of lentiviral vector-mediated RNA interference (RNAi) targeti... | DisGeNET | Detail |
We used immunohistochemical staining of formalin-fixed paraffin-embedded BCC (n = 45) and TE (n = 35... | DisGeNET | Detail |
Myeloid HIF-1 is protective in Helicobacter pylori-mediated gastritis. | DisGeNET | Detail |
NA | DisGeNET | Detail |
75 patients with endometrial carcinoma and 75 patients whose underwent hysterectomy for non tumoral ... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
In our study, we examined a new therapeutic alternative in the treatment of multiresistant lung aden... | DisGeNET | Detail |
As one of the major mediators of hypoxic response, hypoxia inducible factor-1 (HIF-1) has been shown... | DisGeNET | Detail |
To examine whether HIF-1 is involved in the tumorigenesis of RMG-1 cells, we established HIF-1α-sile... | DisGeNET | Detail |
Repression of ERβ contributes to tumorigenesis because it enables HIF-1/VEGF signaling that sustains... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
We screened 79 acute myeloid leukemia (AML) cell lines and found five positive for JAK2 V617F (HEL, ... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Human breast cancer database analysis revealed that increased expression (greater than the median) o... | DisGeNET | Detail |
Endometral carcinoma is the most common malignant tumor of the female genital tract and the fourth m... | DisGeNET | Detail |
In addition, PA-12 blocked the nuclear translocalization of PKM2 in lung cancer cells, resulting in ... | DisGeNET | Detail |
FOXP1 expression was significantly correlated with the expression of HIF1 and VEGF (r=0.54, p<0.01 a... | DisGeNET | Detail |
Colon cancer cell response to the BH3-mimetic was unmodified by HIF-1 activation and OBX induced a d... | 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 |
Hypoxia-inducible factor-1 (HIF-1) is one of the most promising pharmacological targets for all type... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Genes in histone modification [BAP1 (n = 6; 13%), SETD2 (n = 5; 11%), ASXL1 (n = 2; 4%)], chromatin ... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
During tumor progression, hypoxia-inducible factor 1 (HIF-1) plays a critical role in tumor angiogen... | DisGeNET | Detail |
NA | DisGeNET | Detail |
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In this study, we aimed to investigate the association between HIF-1 1772 C/T polymorphisms and endo... | DisGeNET | Detail |
We also summarized the latest findings concerning the role of HIF-1 in the development of HCC, which... | DisGeNET | Detail |
Hypoxia inducible factor-1 (HIF-1) is one of the key mediators of the hypoxia signaling pathway, and... | DisGeNET | Detail |
Thus, NF-κB both positively and negatively fine-tuned HIF-1 in hypoxic hepatocarcinoma cells. | DisGeNET | Detail |
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We used immunohistochemical staining of formalin-fixed paraffin-embedded BCC (n = 45) and TE (n = 35... | DisGeNET | Detail |
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Human breast cancer database analysis revealed that increased expression (greater than the median) o... | DisGeNET | Detail |
Colon cancer cell response to the BH3-mimetic was unmodified by HIF-1 activation and OBX induced a d... | DisGeNET | Detail |
In this study, we aimed to investigate the association between HIF-1 1772 C/T polymorphisms and endo... | DisGeNET | Detail |
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MOTIF analysis of aberrantly hypermethylated regions revealed enrichment for binding sites of AP2a, ... | DisGeNET | Detail |
PI3Kβ inhibitor TGX221 selectively inhibits renal cell carcinoma cells with both VHL and SETD2 mutat... | 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
- rs386626619 dbSNP
- Genome
- hg19
- Position
- chr3:47,057,918-47,205,603
- Variant Type
- snv
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