chr19:43857838:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:43,857,838-43,867,324 |
| hg38 | chr19:43,353,686-43,363,172 |
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 | Dengue Fever | NA | BeFree | Detail | |
| <0.001 | Diabetes Mellitus, Insulin-Dependent | NA | BeFree | Detail | |
| <0.001 | Diabetes Mellitus, Non-Insulin-Dependent | NA | BeFree | 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 | |
| 0.001 | HIV Infections | NA | BeFree | Detail | |
| <0.001 | influenza | NA | BeFree | Detail | |
| <0.001 | chronic lymphocytic leukemia | NA | BeFree | Detail | |
| <0.001 | Leukemia, Myelocytic, Acute | NA | BeFree | Detail | |
| <0.001 | Myeloid Leukemia, Chronic | NA | BeFree | Detail | |
| <0.001 | Liver neoplasms | NA | BeFree | Detail | |
| <0.001 | Lupus Erythematosus, Systemic | NA | BeFree | Detail | |
| <0.001 | lymphoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
| <0.001 | melanoma | Neuropilin-2 (NRP2), a cell surface receptor involved in tumour-associated angio... | BeFree | 24359286 | Detail |
| <0.001 | melanoma | We hypothesized that expression of CD114, the cell surface receptor for granuloc... | BeFree | 26124323 | Detail |
| <0.001 | multiple myeloma | NA | BeFree | Detail | |
| 0.001 | myelofibrosis | NA | BeFree | Detail | |
| 0.005 | Myeloproliferative disease | NA | BeFree,LHGDN | Detail | |
| <0.001 | Myotonic dystrophy | NA | BeFree | Detail | |
| 0.004 | Neoplasm Metastasis | NA | BeFree | Detail | |
| <0.001 | neuroblastoma | NA | BeFree | Detail | |
| <0.001 | neutropenia | NA | BeFree | Detail | |
| <0.001 | Pituitary Neoplasms | NA | BeFree | Detail | |
| <0.001 | plague | NA | BeFree | Detail | |
| 0.006 | polycythemia | NA | BeFree,LHGDN | Detail | |
| 0.015 | polycythemia vera | NA | BeFree,LHGDN | Detail | |
| <0.001 | Prostatic Neoplasms | NA | BeFree | Detail | |
| <0.001 | Pruritus | NA | BeFree | Detail | |
| <0.001 | sarcoidosis | NA | BeFree | Detail | |
| <0.001 | Kaposi sarcoma | NA | BeFree | Detail | |
| <0.001 | Septicemia | NA | BeFree | Detail | |
| <0.001 | Skin Diseases, Infectious | We examined the role of CD177 in neutrophil accumulation using a skin infection ... | BeFree | 25359465 | Detail |
| <0.001 | synovial sarcoma | NA | BeFree | Detail | |
| <0.001 | hereditary hemorrhagic telangiectasia | NA | BeFree | Detail | |
| <0.001 | thalassemia | NA | BeFree | Detail | |
| 0.011 | Thrombocythemia, Essential | NA | BeFree,LHGDN | Detail | |
| 0.003 | thrombosis | NA | LHGDN | Detail | |
| <0.001 | Vascular Diseases | Osteopontin (OPN) could promote the migration and adhesion of VSMCs through the ... | BeFree | 25329616 | Detail |
| <0.001 | motor neuron disease | NA | BeFree | Detail | |
| <0.001 | thalassemia minor | NA | BeFree | Detail | |
| <0.001 | Idiopathic pulmonary hypertension | NA | BeFree | Detail | |
| <0.001 | Tumor Progression | Furthermore, our data may provide an opportunity to promote the importance of th... | BeFree | 24796846 | Detail |
| <0.001 | Relative erythrocytosis | NA | BeFree | Detail | |
| <0.001 | Sepsis | NA | BeFree | Detail | |
| <0.001 | Immune neutropenia | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of esophagus | NA | BeFree | Detail | |
| 0.001 | Solid tumour | NA | BeFree | Detail | |
| <0.001 | Senile Plaques | NA | BeFree | Detail | |
| <0.001 | Capillary malformation (disorder) | NA | BeFree | Detail | |
| <0.001 | Secondary malignant neoplasm of prostate | NA | BeFree | Detail | |
| 0.001 | Malignant neoplasm of prostate | NA | BeFree | Detail | |
| <0.001 | Congenital Myotonic Dystrophy | NA | BeFree | Detail | |
| <0.001 | Reactive thrombocytosis | NA | BeFree | Detail | |
| <0.001 | X-Linked Lymphoproliferative Disorder | NA | BeFree | Detail | |
| <0.001 | Malignant melanoma of eye | NA | BeFree | Detail | |
| <0.001 | Carcinogenesis | NA | BeFree | Detail | |
| 0.011 | Thrombocythemia, Essential | Children and adults with sporadic ET showed a similar proportion of patients wit... | BeFree | 17369568 | Detail |
| 0.001 | prostate carcinoma | NA | BeFree | Detail | |
| <0.001 | Pruritus | However, compared with their heterozygote counterparts, JAK2(V617F) homozygote p... | BeFree | 16369984 | Detail |
| 0.001 | myelofibrosis | Deregulation of apoptosis-related genes is associated with PRV1 overexpression a... | BeFree | 22300941 | Detail |
| 0.001 | myelofibrosis | The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EE... | BeFree | 16919893 | Detail |
| 0.011 | Thrombocythemia, Essential | We retrospectively analysed laboratory and clinical findings of 106 consecutive ... | BeFree | 20104275 | Detail |
| 0.002 | Primary myelofibrosis | In order to explore the correlation between these two biological markers and com... | BeFree | 16197445 | Detail |
| 0.001 | breast carcinoma | These results suggest that proper localization of TβRIII is critical for mainten... | BeFree | 24870032 | Detail |
| 0.011 | Thrombocythemia, Essential | In order to explore the correlation between these two biological markers and com... | BeFree | 16197445 | Detail |
| 0.011 | Thrombocythemia, Essential | The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EE... | BeFree | 16919893 | Detail |
| 0.015 | polycythemia vera | However, compared with the PRV-1 assay, mutation screening for JAK2(V617F) displ... | BeFree | 16197445 | Detail |
| 0.011 | Thrombocythemia, Essential | Deregulation of apoptosis-related genes is associated with PRV1 overexpression a... | BeFree | 22300941 | Detail |
| 0.002 | Primary myelofibrosis | Deregulation of apoptosis-related genes is associated with PRV1 overexpression a... | BeFree | 22300941 | Detail |
| 0.015 | polycythemia vera | These preliminary observations indicate that the Jak2(V617F) mutation in particu... | BeFree | 17852451 | Detail |
| 0.002 | Primary myelofibrosis | The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EE... | BeFree | 16919893 | Detail |
| 0.001 | Chronic myeloproliferative disorder | Increased PRV-1 mRNA expression and the presence of Jak2(V617F) mutation in peri... | BeFree | 17852451 | Detail |
| <0.001 | colon carcinoma | NA | BeFree | Detail | |
| <0.001 | stomach carcinoma | NA | BeFree | Detail | |
| <0.001 | Central neuroblastoma | NA | BeFree | Detail | |
| <0.001 | lymphangioleiomyomatosis | NA | BeFree | Detail | |
| 0.004 | thrombocytosis | NA | BeFree,LHGDN | Detail | |
| <0.001 | Alloimmunisation | NA | BeFree | Detail | |
| <0.001 | Transfusion related acute lung injury | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of the head and neck | NA | BeFree | Detail | |
| <0.001 | Lymphocytic infiltration | NA | BeFree | Detail | |
| <0.001 | TNF receptor-associated periodic fever syndrome (TRAPS) | NA | BeFree | Detail | |
| <0.001 | Precursor B-cell lymphoblastic leukemia | NA | BeFree | Detail | |
| 0.001 | Chronic myeloproliferative disorder | NA | BeFree | Detail | |
| 0.002 | Secondary polycythemia | NA | BeFree | Detail | |
| <0.001 | autoimmune lymphoproliferative syndrome | NA | BeFree | Detail | |
| <0.001 | Mammary Neoplasms | NA | BeFree | Detail | |
| <0.001 | colorectal cancer | NA | BeFree | Detail | |
| <0.001 | tumor vasculature | NA | BeFree | Detail | |
| <0.001 | Benign Prostatic Hyperplasia | NA | BeFree | Detail | |
| <0.001 | Craniometaphyseal dysplasia, autosomal dominant | NA | BeFree | Detail | |
| <0.001 | Severe Aplastic Anemia | NA | BeFree | Detail | |
| <0.001 | liver carcinoma | NA | BeFree | Detail | |
| <0.001 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | Differential gene expression in CD177+ and CD177- neutrophils was investigated, ... | BeFree | 24926686 | Detail |
| <0.001 | Pulmonary arterial hypertension | NA | BeFree | Detail | |
| <0.001 | Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia | NA | BeFree | Detail | |
| <0.001 | adenocarcinoma | NA | BeFree | Detail | |
| 0.002 | Primary myelofibrosis | NA | BeFree | Detail | |
| <0.001 | Anaplasia | NA | BeFree | Detail | |
| <0.001 | anemia | NA | BeFree | Detail | |
| <0.001 | Autoimmune Diseases | NA | BeFree | Detail | |
| <0.001 | beta thalassemia | NA | BeFree | Detail | |
| 0.001 | Malignant neoplasm of breast | These results suggest that proper localization of TβRIII is critical for mainten... | BeFree | 24870032 | Detail |
| <0.001 | Malignant tumor of colon | NA | BeFree | Detail | |
| <0.001 | Non-small cell lung carcinoma | NA | BeFree | 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 |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Neuropilin-2 (NRP2), a cell surface receptor involved in tumour-associated angiogenesis and lymphang... | DisGeNET | Detail |
| We hypothesized that expression of CD114, the cell surface receptor for granulocyte-colony stimulati... | 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 |
| NA | DisGeNET | Detail |
| We examined the role of CD177 in neutrophil accumulation using a skin infection model with Staphyloc... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Osteopontin (OPN) could promote the migration and adhesion of VSMCs through the cell surface recepto... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Furthermore, our data may provide an opportunity to promote the importance of the thiol oxidation st... | 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 |
| Children and adults with sporadic ET showed a similar proportion of patients with PRV-1 RNA overexpr... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| However, compared with their heterozygote counterparts, JAK2(V617F) homozygote patients displayed a ... | DisGeNET | Detail |
| Deregulation of apoptosis-related genes is associated with PRV1 overexpression and JAK2 V617F allele... | DisGeNET | Detail |
| The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkalin... | DisGeNET | Detail |
| We retrospectively analysed laboratory and clinical findings of 106 consecutive patients with ET to ... | DisGeNET | Detail |
| In order to explore the correlation between these two biological markers and compare their diagnosti... | DisGeNET | Detail |
| These results suggest that proper localization of TβRIII is critical for maintenance of epithelial c... | DisGeNET | Detail |
| In order to explore the correlation between these two biological markers and compare their diagnosti... | DisGeNET | Detail |
| The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkalin... | DisGeNET | Detail |
| However, compared with the PRV-1 assay, mutation screening for JAK2(V617F) displayed greater accurac... | DisGeNET | Detail |
| Deregulation of apoptosis-related genes is associated with PRV1 overexpression and JAK2 V617F allele... | DisGeNET | Detail |
| Deregulation of apoptosis-related genes is associated with PRV1 overexpression and JAK2 V617F allele... | DisGeNET | Detail |
| These preliminary observations indicate that the Jak2(V617F) mutation in particular and PRV-1 overex... | DisGeNET | Detail |
| The use of biological markers including JAK2 V617 PCR test, serum EPO, PRV-1, EEC, leukocyte alkalin... | DisGeNET | Detail |
| Increased PRV-1 mRNA expression and the presence of Jak2(V617F) mutation in peripheral blood granulo... | 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 |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Differential gene expression in CD177+ and CD177- neutrophils was investigated, in order to detect 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 |
| These results suggest that proper localization of TβRIII is critical for maintenance of epithelial c... | 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
- -
- dbSNP
- rs386626619 dbSNP
- Genome
- hg19
- Position
- chr19:43,857,838-43,867,324
- Variant Type
- snv
Genome browser