chr3:49359139:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:49,396,572-49,449,971 |
| hg38 | chr3:49,359,139-49,412,538 |
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 |
|---|---|---|---|---|---|
| 0.003 | squamous cell carcinoma | NA | LHGDN | Detail | |
| <0.001 | Cardiovascular Diseases | Genome-wide gene expression profiling by MACE (Massive Analysis of cDNA Ends) id... | BeFree | 24184689 | Detail |
| 0.003 | Colonic Neoplasms | In mice, RHOA inactivation contributes to colon cancer metastasis and reduced RH... | BeFree,LHGDN | 25413277 | Detail |
| <0.001 | colorectal carcinoma | RHOA inactivation enhances Wnt signalling and promotes colorectal cancer. | BeFree | 25413277 | Detail |
| 0.003 | Colorectal Neoplasms | NA | LHGDN | Detail | |
| 0.002 | Crohn Disease | NA | GAD | Detail | |
| 0.080 | Diabetes Mellitus, Experimental | NA | RGD | Detail | |
| 0.002 | Diabetes Mellitus, Non-Insulin-Dependent | NA | GAD | Detail | |
| 0.080 | Experimental Autoimmune Encephalomyelitis | NA | RGD | Detail | |
| 0.083 | Fibrosis | NA | LHGDN,RGD | Detail | |
| 0.003 | glioblastoma | NA | LHGDN | Detail | |
| 0.003 | Glioma | NA | LHGDN | Detail | |
| 0.123 | IgA glomerulonephritis | NA | CTD_human,LHGDN | Detail | |
| 0.080 | membranous glomerulonephritis | NA | RGD | Detail | |
| 0.080 | Cardiomegaly | NA | RGD | Detail | |
| 0.002 | HIV Infections | NA | GAD | Detail | |
| 0.080 | Hypertensive disease | NA | RGD | Detail | |
| 0.080 | pulmonary hypertension | NA | RGD | Detail | |
| 0.121 | Angioimmunoblastic Lymphadenopathy | Detection of the G17V RHOA mutation in angioimmunoblastic T-cell lymphoma and re... | BeFree,CTD_human | 25310466 | Detail |
| 0.003 | Premature Obstetric Labor | NA | LHGDN | Detail | |
| 0.080 | Liver Cirrhosis, Experimental | NA | RGD | Detail | |
| 0.003 | Lung Neoplasms | Upregulation of RHOA and NKIRAS1 genes in lung tumors is associated with loss of... | BeFree,LHGDN | 25869366 | Detail |
| <0.001 | lymphoma | Detection of the G17V RHOA mutation in angioimmunoblastic T-cell lymphoma and re... | BeFree | 25310466 | Detail |
| <0.001 | Lymphoma, Non-Hodgkin | Here, we analyzed RHOA by Sanger sequencing in a cohort of 101 pediatric B-cell ... | BeFree | 25044415 | Detail |
| <0.001 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
| 0.003 | melanoma | NA | BeFree,LHGDN | Detail | |
| 0.080 | Myocardial Reperfusion Injury | NA | RGD | Detail | |
| 0.120 | Neoplasm Invasiveness | NA | CTD_human | Detail | |
| 0.010 | Neoplasm Metastasis | We found that, in mice injected with human TSCC cells in the tongue, RhoA levels... | BeFree,LHGDN | 25001480 | Detail |
| 0.010 | Neoplasm Metastasis | Here we show that RHOA inactivation contributes to colorectal cancer progression... | BeFree,LHGDN | 25413277 | Detail |
| 0.080 | Neuritis, Autoimmune, Experimental | NA | RGD | Detail | |
| <0.001 | nicotine dependence | NA | BeFree | Detail | |
| 0.080 | obesity | NA | RGD | Detail | |
| 0.003 | osteosarcoma | NA | BeFree,LHGDN | Detail | |
| 0.014 | Prostatic Neoplasms | NA | LHGDN | Detail | |
| 0.120 | proteinuria | NA | CTD_human | Detail | |
| 0.125 | Stomach Neoplasms | NA | CTD_human,LHGDN | Detail | |
| 0.003 | Tobacco use disorder | NA | LHGDN | Detail | |
| 0.003 | Vascular Diseases | NA | LHGDN | Detail | |
| <0.001 | B-Cell Lymphomas | NA | BeFree | Detail | |
| 0.120 | T-Cell Lymphoma | NA | BeFree,CTD_human | Detail | |
| 0.120 | Lymphoma, T-Cell, Cutaneous | NA | CTD_human | Detail | |
| 0.121 | peripheral T-cell lymphoma | NA | BeFree,CTD_human | Detail | |
| 0.080 | Left Ventricular Hypertrophy | NA | RGD | Detail | |
| <0.001 | Tumor Progression | NA | BeFree | Detail | |
| <0.001 | childhood small noncleaved cell lymphoma | Recurrent RHOA mutations in pediatric Burkitt lymphoma treated according to the ... | BeFree | 25044415 | Detail |
| <0.001 | Deficiency of mevalonate kinase | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of tongue | Our data suggest that RhoA plays a significant role in TSCC progression by regul... | BeFree | 25001480 | Detail |
| <0.001 | Malignant neoplasm of prostate | NA | BeFree | Detail | |
| <0.001 | Intraocular pressure disorder | Nocturnal elevation of IOP blocked for prolonged periods by transferred RhoA gen... | BeFree | 25412195 | Detail |
| <0.001 | Carcinogenesis | NA | BeFree | Detail | |
| <0.001 | Leukemogenesis | Thus, deregulation of RHOA by mutation is a recurrent event in Burkitt lymphomag... | BeFree | 25044415 | Detail |
| <0.001 | prostate carcinoma | NA | BeFree | Detail | |
| 0.002 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | colon carcinoma | In mice, RHOA inactivation contributes to colon cancer metastasis and reduced RH... | BeFree | 25413277 | Detail |
| <0.001 | stomach carcinoma | NA | BeFree | Detail | |
| <0.001 | Anaphylaxis (non medication) | Moreover, endothelial-specific RhoA gene deletion prevents vascular leakage and ... | BeFree | 25857352 | Detail |
| 0.003 | ovarian neoplasm | NA | LHGDN | Detail | |
| 0.011 | Mammary Neoplasms | NA | LHGDN | Detail | |
| <0.001 | Xenograft Model | NA | BeFree | Detail | |
| <0.001 | colorectal cancer | RHOA inactivation enhances Wnt signalling and promotes colorectal cancer. | BeFree | 25413277 | Detail |
| 0.003 | Idiopathic Pulmonary Fibrosis | NA | LHGDN | Detail | |
| <0.001 | T-cell large granular lymphocyte leukemia | NA | BeFree | Detail | |
| 0.011 | liver carcinoma | NA | BeFree,LHGDN | Detail | |
| 0.003 | Infection | NA | LHGDN | Detail | |
| <0.001 | High grade serous carcinoma | NA | BeFree | Detail | |
| 0.003 | adenocarcinoma | NA | BeFree,LHGDN | Detail | |
| <0.001 | arteriosclerosis | NA | BeFree | Detail | |
| 0.080 | asthma | NA | BeFree,RGD | Detail | |
| 0.003 | Astrocytoma | NA | LHGDN | Detail | |
| <0.001 | atherosclerosis | NA | BeFree | Detail | |
| 0.120 | Bladder Neoplasm | NA | CTD_human | Detail | |
| <0.001 | Blast Phase | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of breast | NA | BeFree | Detail | |
| <0.001 | Burkitt lymphoma | In a recent whole-genome sequencing study of four cases, we showed that the gene... | BeFree | 25044415 | Detail |
| <0.001 | Malignant tumor of colon | In mice, RHOA inactivation contributes to colon cancer metastasis and reduced RH... | BeFree | 25413277 | Detail |
| <0.001 | Non-small cell lung carcinoma | By using a unified collection of samples of non-small cell lung cancer, it was d... | BeFree | 25869366 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| Genome-wide gene expression profiling by MACE (Massive Analysis of cDNA Ends) identified 80 genes to... | DisGeNET | Detail |
| In mice, RHOA inactivation contributes to colon cancer metastasis and reduced RHOA levels were obser... | DisGeNET | Detail |
| RHOA inactivation enhances Wnt signalling and promotes colorectal cancer. | 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 |
| Detection of the G17V RHOA mutation in angioimmunoblastic T-cell lymphoma and related lymphomas usin... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Upregulation of RHOA and NKIRAS1 genes in lung tumors is associated with loss of their methylation a... | DisGeNET | Detail |
| Detection of the G17V RHOA mutation in angioimmunoblastic T-cell lymphoma and related lymphomas usin... | DisGeNET | Detail |
| Here, we analyzed RHOA by Sanger sequencing in a cohort of 101 pediatric B-cell lymphoma patients tr... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We found that, in mice injected with human TSCC cells in the tongue, RhoA levels were higher in prim... | DisGeNET | Detail |
| Here we show that RHOA inactivation contributes to colorectal cancer progression/metastasis, largely... | 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 |
| NA | DisGeNET | Detail |
| Recurrent RHOA mutations in pediatric Burkitt lymphoma treated according to the NHL-BFM protocols. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our data suggest that RhoA plays a significant role in TSCC progression by regulating cell migration... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Nocturnal elevation of IOP blocked for prolonged periods by transferred RhoA gene. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Thus, deregulation of RHOA by mutation is a recurrent event in Burkitt lymphomagenesis in children. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In mice, RHOA inactivation contributes to colon cancer metastasis and reduced RHOA levels were obser... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Moreover, endothelial-specific RhoA gene deletion prevents vascular leakage and passive cutaneous an... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| RHOA inactivation enhances Wnt signalling and promotes colorectal cancer. | 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 |
| In a recent whole-genome sequencing study of four cases, we showed that the gene encoding the ras ho... | DisGeNET | Detail |
| In mice, RHOA inactivation contributes to colon cancer metastasis and reduced RHOA levels were obser... | DisGeNET | Detail |
| By using a unified collection of samples of non-small cell lung cancer, it was demonstrated that ele... | 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
- -
- Genome
- hg38
- Position
- chr3:49,359,139-49,412,538
- Variant Type
- snv
Genome browser