chr5:86563700:> Detail (hg19) (RASA1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:86,563,700-86,687,748 |
| hg38 | chr5:87,267,883-87,391,931 |
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
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| lung non-small cell carcinoma | Trametinib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 29127119 | Detail |
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.002 | Chromosome Aberrations | NA | GAD | Detail | |
| <0.001 | Chylothorax | NA | BeFree | Detail | |
| <0.001 | colorectal carcinoma | NA | BeFree | Detail | |
| <0.001 | Colorectal Neoplasms | NA | BeFree | Detail | |
| <0.001 | Dermatitis, Atopic | NA | BeFree | Detail | |
| <0.001 | Eczema | NA | BeFree | Detail | |
| 0.120 | IgA glomerulonephritis | NA | CTD_human | Detail | |
| 0.003 | Graves Disease | NA | BeFree | Detail | |
| 0.003 | Hypertensive disease | NA | BeFree,GAD | Detail | |
| <0.001 | hypogonadism | NA | BeFree | Detail | |
| <0.001 | hypotrichosis | Hypotrichosis on the CMs suggests that RASA1 gene mutations could be involved in... | BeFree | 25059281 | Detail |
| <0.001 | Kidney Neoplasm | NA | BeFree | Detail | |
| 0.005 | Leukemia, Myelocytic, Acute | NA | BeFree,GAD | Detail | |
| 0.001 | Myeloid Leukemia, Chronic | NA | BeFree | Detail | |
| <0.001 | Lupus Erythematosus, Systemic | NA | BeFree | Detail | |
| 0.120 | Animal Mammary Neoplasms | NA | CTD_human | Detail | |
| 0.120 | Mammary Neoplasms, Experimental | NA | CTD_human | Detail | |
| 0.001 | Mental Retardation | NA | BeFree | Detail | |
| <0.001 | Mycoplasma Infections | NA | BeFree | Detail | |
| <0.001 | Myeloproliferative disease | NA | BeFree | Detail | |
| 0.002 | Nasopharyngeal Neoplasms | NA | GAD | Detail | |
| 0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
| 0.006 | neurofibromatosis 1 | Neurofibromatosis type I (NF1) is an autosomal dominant disease with an incidenc... | BeFree | 25043591 | Detail |
| <0.001 | oligodendroglioma | NA | BeFree | Detail | |
| <0.001 | Parkinson disease | In particular, the signaling gene RGS2, which encodes for a GTPase-activating pr... | BeFree | 24794857 | Detail |
| <0.001 | pheochromocytoma | NA | BeFree | Detail | |
| 0.002 | pre-eclampsia | NA | GAD | Detail | |
| 0.002 | Pregnancy Complications | NA | GAD | Detail | |
| <0.001 | Prostatic Neoplasms | NA | BeFree | Detail | |
| <0.001 | Scoliosis, unspecified | NA | BeFree | Detail | |
| 0.241 | Sturge-Weber syndrome | NA | BeFree,CTD_human,ORPHANET | Detail | |
| <0.001 | telangiectasis | NA | BeFree | Detail | |
| 0.002 | Thyroid Neoplasm | NA | GAD | Detail | |
| <0.001 | Tremor | NA | BeFree | Detail | |
| 0.001 | tuberous sclerosis | NA | BeFree | Detail | |
| <0.001 | Skin Diseases, Bullous | NA | BeFree | Detail | |
| <0.001 | Adenocarcinoma of lung (disorder) | NA | BeFree | Detail | |
| 0.001 | Vascular anomaly | NA | BeFree | Detail | |
| <0.001 | Neurofibromatoses | NA | BeFree | Detail | |
| <0.001 | Tumor Progression | Glucocorticoid receptor DNA binding factor 1 (GRF-1) is an important Rho family ... | BeFree | 25185653 | Detail |
| <0.001 | histiocytoid hemangioma | NA | BeFree | Detail | |
| 0.002 | Medullary carcinoma | NA | GAD | Detail | |
| <0.001 | childhood brain tumor | NA | BeFree | Detail | |
| 0.120 | Port-Wine Stain | NA | BeFree,CTD_human | Detail | |
| <0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
| 0.003 | Malignant neoplasm of lung | NA | BeFree,GAD | Detail | |
| <0.001 | Multiple tumors | NA | BeFree | Detail | |
| <0.001 | Chronic Periodontitis | A total of 84 patients with generalized aggressive periodontitis (GAP,n:29), gen... | BeFree | 25638399 | Detail |
| 0.001 | Arteriovenous hemangioma | NA | BeFree | Detail | |
| 0.002 | Capillary malformation (disorder) | NA | BeFree | Detail | |
| <0.001 | Oncocytoma, renal | NA | BeFree | Detail | |
| <0.001 | chronic eosinophilic leukemia | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
| 0.001 | Malignant neoplasm of prostate | NA | BeFree | Detail | |
| <0.001 | Familial aplasia of the vermis | NA | BeFree | Detail | |
| <0.001 | Secondary malignant neoplasm of liver | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of skin | Three novel candidate tumor suppressors with putative links to cancer or differe... | BeFree | 25303977 | Detail |
| <0.001 | Congenital scoliosis | NA | BeFree | Detail | |
| <0.001 | Costello syndrome (disorder) | NA | BeFree | Detail | |
| 0.002 | Carcinogenesis | The Rho GTPase-activating protein 35 (ARHGAP35), an important Rho family GTPase-... | BeFree | 25136583 | Detail |
| <0.001 | Tumor Initiation | NA | BeFree | Detail | |
| 0.001 | prostate carcinoma | NA | BeFree | Detail | |
| 0.001 | breast carcinoma | In conclusion, RASA1 expression is frequently reduced in breast cancer tissues, ... | BeFree | 25394563 | Detail |
| <0.001 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | Secondary malignant neoplasm of lymph node | The reduced RASA1 expression was significantly associated with tumor lymph node ... | BeFree | 25394563 | Detail |
| <0.001 | colon carcinoma | RASA1 protein levels were significantly decreased in RKO cells compared with the... | BeFree | 25663768 | Detail |
| <0.001 | Carcinoma of bladder | NA | BeFree | Detail | |
| <0.001 | Acquired scoliosis | NA | BeFree | Detail | |
| <0.001 | Well Differentiated Oligodendroglioma | NA | BeFree | Detail | |
| <0.001 | malignant peripheral nerve sheath tumor | NA | BeFree | Detail | |
| <0.001 | MICROPHTHALMIA, SYNDROMIC 7 | NA | BeFree | Detail | |
| <0.001 | Invasive Ductal Breast Carcinoma | Downregulation of Ras GTPase‑activating protein 1 is associated with poor surviv... | BeFree | 25394563 | Detail |
| <0.001 | Chronic myeloproliferative disorder | NA | BeFree | Detail | |
| <0.001 | Mammary Neoplasms | NA | BeFree | Detail | |
| 0.002 | oxyphilic adenoma | NA | GAD | Detail | |
| <0.001 | Angiogenic Switch | NA | BeFree | Detail | |
| <0.001 | Xenograft Model | NA | BeFree | Detail | |
| <0.001 | colorectal cancer | NA | BeFree | Detail | |
| <0.001 | Aggressive periodontitis, generalized | A total of 84 patients with generalized aggressive periodontitis (GAP,n:29), gen... | BeFree | 25638399 | Detail |
| <0.001 | Warburg Sjo Fledelius syndrome | NA | BeFree | Detail | |
| <0.001 | Laryngeal cleft | NA | BeFree | Detail | |
| 0.484 | CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) | These RASA1-associated cutaneous capillary malformations (CMs) can accompany int... | BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT | 23829194 | Detail |
| 0.484 | CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) | Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is an autoso... | BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT | 25040287 | Detail |
| <0.001 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | NA | BeFree | Detail | |
| 0.002 | Precursor Cell Lymphoblastic Leukemia Lymphoma | NA | GAD | Detail | |
| <0.001 | Congenital vascular anomaly | NA | BeFree | Detail | |
| <0.001 | liver carcinoma | NA | BeFree | Detail | |
| <0.001 | Prostate cancer, familial | NA | BeFree | Detail | |
| <0.001 | neurofibromatosis-Noonan syndrome | NA | BeFree | Detail | |
| <0.001 | Cutaneous capillary malformation | These RASA1-associated cutaneous capillary malformations (CMs) can accompany int... | BeFree | 23829194 | Detail |
| <0.001 | Triple Negative Breast Neoplasms | RASA1 expression, together with tumor lymph‑node metastasis, TNM stage, Her‑2 ex... | BeFree | 25394563 | Detail |
| <0.001 | autoimmune hemolytic anemia | NA | BeFree | Detail | |
| <0.001 | Arteriovenous fistula | These RASA1-associated cutaneous capillary malformations (CMs) can accompany int... | BeFree | 23829194 | Detail |
| 0.122 | Congenital arteriovenous malformation | These RASA1-associated cutaneous capillary malformations (CMs) can accompany int... | BeFree,CTD_human | 23829194 | Detail |
| <0.001 | Astrocytoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of urinary bladder | NA | BeFree | Detail | |
| 0.001 | Malignant neoplasm of breast | In conclusion, RASA1 expression is frequently reduced in breast cancer tissues, ... | BeFree | 25394563 | Detail |
| <0.001 | Malignant tumor of colon | RASA1 protein levels were significantly decreased in RKO cells compared with the... | BeFree | 25663768 | Detail |
| 0.120 | basal cell carcinoma | NA | CTD_human | Detail | |
| <0.001 | Non-small cell lung carcinoma | NA | BeFree | Detail | |
| 0.002 | Carcinoma, Papillary | NA | GAD | Detail | |
| <0.001 | renal cell carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Approximately 2% of NSCLCs had RASA1 truncating mutations, and this alteration was statistically, bu... | CIViC Evidence | 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 |
| Hypotrichosis on the CMs suggests that RASA1 gene mutations could be involved in the hair follicle p... | 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 |
| Neurofibromatosis type I (NF1) is an autosomal dominant disease with an incidence of 1/3000, caused ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In particular, the signaling gene RGS2, which encodes for a GTPase-activating protein (GAP), is a ke... | 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 |
| Glucocorticoid receptor DNA binding factor 1 (GRF-1) is an important Rho family GTPase-activating pr... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A total of 84 patients with generalized aggressive periodontitis (GAP,n:29), generalized chronic per... | 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 |
| Three novel candidate tumor suppressors with putative links to cancer or differentiation, NOTCH2, PA... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The Rho GTPase-activating protein 35 (ARHGAP35), an important Rho family GTPase-activating protein, ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In conclusion, RASA1 expression is frequently reduced in breast cancer tissues, and the reduced RASA... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The reduced RASA1 expression was significantly associated with tumor lymph node metastasis (P=0.002)... | DisGeNET | Detail |
| RASA1 protein levels were significantly decreased in RKO cells compared with the other 5 colon cance... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Downregulation of Ras GTPase‑activating protein 1 is associated with poor survival of breast invasiv... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A total of 84 patients with generalized aggressive periodontitis (GAP,n:29), generalized chronic per... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| These RASA1-associated cutaneous capillary malformations (CMs) can accompany internal or cutaneous a... | DisGeNET | Detail |
| Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is an autosomal dominant disorde... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| These RASA1-associated cutaneous capillary malformations (CMs) can accompany internal or cutaneous a... | DisGeNET | Detail |
| RASA1 expression, together with tumor lymph‑node metastasis, TNM stage, Her‑2 expression, and triple... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| These RASA1-associated cutaneous capillary malformations (CMs) can accompany internal or cutaneous a... | DisGeNET | Detail |
| These RASA1-associated cutaneous capillary malformations (CMs) can accompany internal or cutaneous a... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In conclusion, RASA1 expression is frequently reduced in breast cancer tissues, and the reduced RASA... | DisGeNET | Detail |
| RASA1 protein levels were significantly decreased in RKO cells compared with the other 5 colon cance... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | 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
- -
- Genome
- hg19
- Position
- chr5:86,563,700-86,687,748
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- LOSS-OF-FUNCTION
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2235
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