chr1:64833229:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:65,298,912-65,533,437 |
| hg38 | chr1:64,833,229-65,067,754 |
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 | Colorectal Neoplasms | NA | LHGDN | Detail | |
| <0.001 | Dermatitis, Atopic | NA | BeFree | Detail | |
| <0.001 | Eczema | NA | BeFree | Detail | |
| <0.001 | endometriosis | NA | BeFree | Detail | |
| <0.001 | Esophageal Neoplasms | NA | BeFree | Detail | |
| <0.001 | Fanconi anemia | NA | BeFree | Detail | |
| <0.001 | fibrosarcoma | NA | BeFree | Detail | |
| 0.003 | Severe Dengue | NA | BeFree,GAD | Detail | |
| 0.003 | hepatitis B | NA | BeFree,GAD | Detail | |
| 0.003 | hepatitis C | Taken together, our results demonstrated that miR-373 is upregulated during HCV ... | BeFree,LHGDN | 25589644 | Detail |
| <0.001 | HIV Infections | NA | BeFree | Detail | |
| <0.001 | Inflammatory Bowel Diseases | NA | BeFree | Detail | |
| <0.001 | leukemia | NA | BeFree | Detail | |
| <0.001 | chronic lymphocytic leukemia | NA | BeFree | Detail | |
| 0.002 | Acute lymphocytic leukemia | LEF1 high expression is also associated with high mutation rate of Notch1 and JA... | BeFree | 25942645 | Detail |
| 0.003 | Leukemia, Myelocytic, Acute | NA | BeFree,GAD | Detail | |
| 0.002 | myeloid leukemia | NA | GAD | Detail | |
| <0.001 | acute promyelocytic leukemia | NA | BeFree | Detail | |
| 0.003 | Adult T-Cell Lymphoma/Leukemia | NA | BeFree,GAD | Detail | |
| <0.001 | Leukemia, T-Cell, Chronic | These results for the first time provide a portrait of the mutational landscape ... | BeFree | 24825865 | Detail |
| 0.002 | liver cirrhosis | NA | GAD | Detail | |
| 0.002 | Liver neoplasms | NA | GAD | Detail | |
| <0.001 | Lung Neoplasms | NA | BeFree | Detail | |
| 0.080 | Lupus Erythematosus, Systemic | NA | BeFree,MGD | Detail | |
| <0.001 | lymphoma | NA | BeFree | Detail | |
| 0.002 | Lymphoproliferative Disorders | NA | GAD | Detail | |
| 0.003 | melanoma | NA | LHGDN | Detail | |
| <0.001 | meningioma | NA | BeFree | Detail | |
| <0.001 | multiple myeloma | NA | BeFree | Detail | |
| 0.003 | multiple sclerosis | NA | BeFree,GAD | Detail | |
| 0.003 | myelofibrosis | JAK1/2 inhibitors have broadened the therapeutic options in myelofibrosis. | BeFree | 25189727 | Detail |
| 0.003 | myelofibrosis | JAK2 inhibition became a reality with first patients receiving drugs that target... | BeFree | 25189729 | Detail |
| 0.003 | myelofibrosis | Ruxolitinib is a potent and specific JAK1/JAK2 inhibitor recently approved for t... | BeFree | 25441108 | Detail |
| 0.003 | Myeloproliferative disease | NA | BeFree,GAD | Detail | |
| 0.001 | Neoplasm Metastasis | Targeting JAK1/STAT3 signaling suppresses tumor progression and metastasis in a ... | BeFree | 25319391 | Detail |
| 0.001 | Neoplasm Metastasis | Moreover, LIFR knockdown could activate phosphoinositide 3-kinase/V-akt Murine T... | BeFree | 26249360 | Detail |
| 0.002 | neutropenia | NA | GAD | Detail | |
| <0.001 | ovarian carcinoma | Targeting JAK1/STAT3 signaling suppresses tumor progression and metastasis in a ... | BeFree | 25319391 | Detail |
| 0.002 | Philadelphia Chromosome | NA | GAD | Detail | |
| 0.005 | polycythemia vera | NA | BeFree,GAD | Detail | |
| 0.003 | Prostatic Neoplasms | NA | LHGDN | Detail | |
| <0.001 | psoriasis | NA | BeFree | Detail | |
| 0.002 | Respiratory Syncytial Virus Infections | NA | GAD | Detail | |
| 0.002 | Thrombocythemia, Essential | NA | GAD | Detail | |
| 0.002 | thrombocytopenia | NA | GAD | Detail | |
| 0.002 | Tobacco use disorder | NA | GAD | Detail | |
| <0.001 | Uveomeningoencephalitic Syndrome | NA | BeFree | Detail | |
| 0.002 | Viremia | NA | GAD | Detail | |
| <0.001 | T-Cell Lymphoma | NA | BeFree | Detail | |
| <0.001 | Lymphoma, T-Cell, Cutaneous | NA | BeFree | Detail | |
| <0.001 | acute leukemia | NA | BeFree | Detail | |
| <0.001 | esophageal carcinoma | NA | BeFree | Detail | |
| <0.001 | Tumor Progression | NA | BeFree | Detail | |
| <0.001 | Ki-1+ Anaplastic Large Cell Lymphoma | We identified activating mutations of JAK1 and/or STAT3 genes in ∼20% of 88 [cor... | BeFree | 25873174 | Detail |
| <0.001 | pancreatic carcinoma | Together, our data demonstrate that TPCA-1 is a unique dual inhibitor of IKK-β a... | BeFree | 26331681 | Detail |
| 0.001 | Female Pseudohermaphroditism | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of lung | NA | BeFree | Detail | |
| <0.001 | Tumor necrosis | To better understand the mechanism of resistance, we tested a panel of 16 small ... | BeFree | 26331681 | Detail |
| <0.001 | Malignant neoplasm of pancreas | Together, our data demonstrate that TPCA-1 is a unique dual inhibitor of IKK-β a... | BeFree | 26331681 | Detail |
| <0.001 | Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site | Jak1/Stat3 is an upstream signaling of NF-κB activation in Helicobacter pylori-i... | BeFree | 25837197 | Detail |
| <0.001 | Malignant neoplasm of prostate | NA | BeFree | Detail | |
| <0.001 | Hematologic Neoplasms | NA | BeFree | Detail | |
| <0.001 | Immune thrombocytopenic purpura | Recognition of this newly identified physiological feedback mechanism illuminate... | BeFree | 25485912 | Detail |
| <0.001 | endometrial carcinoma | NA | BeFree | Detail | |
| 0.005 | Hepatitis B, Chronic | NA | GAD | Detail | |
| 0.005 | Hepatitis C, Chronic | NA | GAD | Detail | |
| <0.001 | Malignant neoplasm of esophagus | NA | BeFree | Detail | |
| <0.001 | Leukemogenesis | NA | BeFree | Detail | |
| <0.001 | prostate carcinoma | NA | BeFree | Detail | |
| 0.005 | polycythemia vera | JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation... | BeFree | 16239216 | Detail |
| <0.001 | breast carcinoma | After adjustment for multiple comparisons, JAK1 (three of ten SNPs) and JAK2 (4 ... | BeFree | 25104439 | Detail |
| <0.001 | Erythrocytosis | Disrupting ATP binding in JH2 also inhibits the hyperactivity of other pathogeni... | BeFree | 25825724 | Detail |
| <0.001 | polycythemia | Disrupting ATP binding in JH2 also inhibits the hyperactivity of other pathogeni... | BeFree | 25825724 | Detail |
| <0.001 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | stomach carcinoma | NA | BeFree | Detail | |
| <0.001 | Malignant Female Reproductive System Neoplasm | NA | BeFree | Detail | |
| <0.001 | adult acute lymphocytic leukemia | NA | BeFree | Detail | |
| <0.001 | Metastatic Prostate Carcinoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of ovary | Targeting JAK1/STAT3 signaling suppresses tumor progression and metastasis in a ... | BeFree | 25319391 | Detail |
| <0.001 | Squamous cell carcinoma of the head and neck | These findings suggest that the JAK1/2 inhibitors abrogate STAT3 signaling and m... | BeFree | 25810010 | Detail |
| <0.001 | X-Linked Combined Immunodeficiency Diseases | NA | BeFree | Detail | |
| <0.001 | Chronic myeloproliferative disorder | NA | BeFree | Detail | |
| <0.001 | Mammary Neoplasms | NA | BeFree | Detail | |
| <0.001 | grade II meningioma | NA | BeFree | Detail | |
| <0.001 | Xenograft Model | NA | BeFree | Detail | |
| <0.001 | Meningioma, benign, no ICD-O subtype | NA | BeFree | Detail | |
| <0.001 | lateral meningocele syndrome | NA | BeFree | Detail | |
| <0.001 | uterine corpus cancer | NA | BeFree | Detail | |
| 0.003 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | NA | BeFree,GAD | Detail | |
| 0.007 | Precursor Cell Lymphoblastic Leukemia Lymphoma | LEF1 high expression is also associated with high mutation rate of Notch1 and JA... | BeFree,GAD,LHGDN | 25942645 | Detail |
| 0.003 | liver carcinoma | Moreover, LIFR knockdown could activate phosphoinositide 3-kinase/V-akt Murine T... | BeFree,GAD | 26249360 | Detail |
| <0.001 | T-cell prolymphocytic leukemia | These results for the first time provide a portrait of the mutational landscape ... | BeFree | 24825865 | Detail |
| 0.002 | myelodysplastic syndrome | NA | GAD | Detail | |
| <0.001 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | NA | BeFree | Detail | |
| <0.001 | Triple Negative Breast Neoplasms | NA | BeFree | Detail | |
| 0.003 | Infection | NA | LHGDN | Detail | |
| 0.008 | Primary myelofibrosis | JAK1/2 inhibitors have broadened the therapeutic options in myelofibrosis. | BeFree,GAD | 25189727 | Detail |
| 0.008 | Primary myelofibrosis | JAK2 inhibition became a reality with first patients receiving drugs that target... | BeFree,GAD | 25189729 | Detail |
| 0.008 | Primary myelofibrosis | Ruxolitinib is a potent and specific JAK1/JAK2 inhibitor recently approved for t... | BeFree,GAD | 25441108 | Detail |
| 0.003 | Anoxia | NA | LHGDN | Detail | |
| <0.001 | rheumatoid arthritis | The JAK inhibitor tofacitinib suppresses synovial JAK1-STAT signalling in rheuma... | BeFree | 25398374 | Detail |
| 0.003 | asthma | NA | BeFree,GAD | Detail | |
| 0.004 | Autoimmune Diseases | NA | BeFree,LHGDN | Detail | |
| <0.001 | Behcet Syndrome | The JAK1/STAT3 signaling pathway is activated in BD, possibly through the activa... | BeFree | 25410656 | Detail |
| <0.001 | Behcet Syndrome | Lack of association of TNFAIP3 and JAK1 with Behçet's disease in the European po... | BeFree | 26005883 | Detail |
| <0.001 | Malignant neoplasm of breast | After adjustment for multiple comparisons, JAK1 (three of ten SNPs) and JAK2 (4 ... | BeFree | 25104439 | Detail |
| 0.002 | Bronchiolitis, Viral | NA | GAD | Detail | |
| <0.001 | Malignant neoplasm of endometrium | 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 |
| Taken together, our results demonstrated that miR-373 is upregulated during HCV infection and negati... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| LEF1 high expression is also associated with high mutation rate of Notch1 and JAK1 in T-ALL. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| These results for the first time provide a portrait of the mutational landscape of T-PLL and implica... | 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 |
| JAK1/2 inhibitors have broadened the therapeutic options in myelofibrosis. | DisGeNET | Detail |
| JAK2 inhibition became a reality with first patients receiving drugs that targeted JAK2 in 2007 and ... | DisGeNET | Detail |
| Ruxolitinib is a potent and specific JAK1/JAK2 inhibitor recently approved for the treatment of myel... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Targeting JAK1/STAT3 signaling suppresses tumor progression and metastasis in a peritoneal model of ... | DisGeNET | Detail |
| Moreover, LIFR knockdown could activate phosphoinositide 3-kinase/V-akt Murine Thymoma Viral Oncogen... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Targeting JAK1/STAT3 signaling suppresses tumor progression and metastasis in a peritoneal model of ... | 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 identified activating mutations of JAK1 and/or STAT3 genes in ∼20% of 88 [corrected] ALK(-) ALCLs... | DisGeNET | Detail |
| Together, our data demonstrate that TPCA-1 is a unique dual inhibitor of IKK-β and JAK1 kinase, and ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| To better understand the mechanism of resistance, we tested a panel of 16 small molecule inhibitors ... | DisGeNET | Detail |
| Together, our data demonstrate that TPCA-1 is a unique dual inhibitor of IKK-β and JAK1 kinase, and ... | DisGeNET | Detail |
| Jak1/Stat3 is an upstream signaling of NF-κB activation in Helicobacter pylori-induced IL-8 producti... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Recognition of this newly identified physiological feedback mechanism illuminates the pathophysiolog... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation: cross-talk with IG... | DisGeNET | Detail |
| After adjustment for multiple comparisons, JAK1 (three of ten SNPs) and JAK2 (4 of 11 SNPs) interact... | DisGeNET | Detail |
| Disrupting ATP binding in JH2 also inhibits the hyperactivity of other pathogenic JAK2 mutants, as w... | DisGeNET | Detail |
| Disrupting ATP binding in JH2 also inhibits the hyperactivity of other pathogenic JAK2 mutants, as w... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Targeting JAK1/STAT3 signaling suppresses tumor progression and metastasis in a peritoneal model of ... | DisGeNET | Detail |
| These findings suggest that the JAK1/2 inhibitors abrogate STAT3 signaling and may be effective in H... | 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 |
| LEF1 high expression is also associated with high mutation rate of Notch1 and JAK1 in T-ALL. | DisGeNET | Detail |
| Moreover, LIFR knockdown could activate phosphoinositide 3-kinase/V-akt Murine Thymoma Viral Oncogen... | DisGeNET | Detail |
| These results for the first time provide a portrait of the mutational landscape of T-PLL and implica... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| JAK1/2 inhibitors have broadened the therapeutic options in myelofibrosis. | DisGeNET | Detail |
| JAK2 inhibition became a reality with first patients receiving drugs that targeted JAK2 in 2007 and ... | DisGeNET | Detail |
| Ruxolitinib is a potent and specific JAK1/JAK2 inhibitor recently approved for the treatment of myel... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The JAK inhibitor tofacitinib suppresses synovial JAK1-STAT signalling in rheumatoid arthritis. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The JAK1/STAT3 signaling pathway is activated in BD, possibly through the activation of Th1/Th17-typ... | DisGeNET | Detail |
| Lack of association of TNFAIP3 and JAK1 with Behçet's disease in the European population. | DisGeNET | Detail |
| After adjustment for multiple comparisons, JAK1 (three of ten SNPs) and JAK2 (4 of 11 SNPs) interact... | 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
- -
- dbSNP
- rs386626619 dbSNP
- Genome
- hg38
- Position
- chr1:64,833,229-65,067,754
- Variant Type
- snv
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