chr19:10350533:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:10,461,209-10,491,284 |
| hg38 | chr19:10,350,533-10,380,608 |
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 | Craniofacial Dysostosis | NA | BeFree | Detail | |
| 0.245 | Crohn Disease | NA | BeFree,CTD_human,GAD,GWASCAT | Detail | |
| <0.001 | dermatitis | NA | BeFree | Detail | |
| 0.125 | Diabetes Mellitus, Insulin-Dependent | TYK2, a Candidate Gene for Type 1 Diabetes, Modulates Apoptosis and the Innate I... | BeFree,GAD,GWASCAT | 26239055 | Detail |
| 0.002 | Diabetes Mellitus, Non-Insulin-Dependent | NA | GAD | Detail | |
| <0.001 | Experimental Autoimmune Encephalomyelitis | NA | BeFree | Detail | |
| <0.001 | Immunologic Deficiency Syndromes | NA | BeFree | Detail | |
| <0.001 | Immune System Diseases | NA | BeFree | Detail | |
| <0.001 | leukemia | NA | BeFree | Detail | |
| <0.001 | lymphoid leukemia | NA | BeFree | Detail | |
| 0.002 | Leukemia, Myelocytic, Acute | NA | GAD | Detail | |
| 0.002 | myeloid leukemia | NA | GAD | Detail | |
| 0.002 | liver cirrhosis | NA | GAD | Detail | |
| 0.120 | Biliary cirrhosis | NA | CTD_human | Detail | |
| <0.001 | Lupus Vulgaris | NA | BeFree | Detail | |
| <0.001 | Lupus Erythematosus, Discoid | NA | BeFree | Detail | |
| <0.001 | Lupus Erythematosus, Subacute Cutaneous | NA | BeFree | Detail | |
| 0.012 | Lupus Erythematosus, Systemic | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | lymphoma | NA | BeFree | Detail | |
| 0.003 | Lymphoproliferative Disorders | NA | BeFree,GAD | Detail | |
| <0.001 | meningioma | NA | BeFree | Detail | |
| 0.133 | multiple sclerosis | NA | BeFree,CTD_human,GAD | Detail | |
| <0.001 | Mycobacterium Infections | NA | BeFree | Detail | |
| <0.001 | myelofibrosis | NA | BeFree | Detail | |
| <0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
| 0.002 | neutropenia | NA | GAD | Detail | |
| 0.080 | obesity | NA | BeFree,MGD | Detail | |
| <0.001 | polycythemia vera | NA | BeFree | Detail | |
| 0.003 | Prostatic Neoplasms | NA | LHGDN | Detail | |
| 0.243 | psoriasis | NA | BeFree,CTD_human,GAD,GWASCAT | Detail | |
| 0.002 | Respiratory Syncytial Virus Infections | NA | GAD | Detail | |
| 0.003 | sarcoidosis | NA | LHGDN | Detail | |
| <0.001 | Thrombocythemia, Essential | NA | BeFree | Detail | |
| 0.002 | thrombocytopenia | NA | GAD | Detail | |
| <0.001 | Unipolar Depression | NA | BeFree | Detail | |
| <0.001 | Virus Diseases | TYK2-silenced human β-cells exposed to polyinosinic-polycitidilic acid (PIC) (a ... | BeFree | 26239055 | Detail |
| <0.001 | Ki-1+ Anaplastic Large Cell Lymphoma | Recurrent chimeras combining a transcription factor (NFkB2 or NCOR2) with a tyro... | BeFree | 25873174 | Detail |
| 0.120 | Lymphomatoid Papulosis | NA | ORPHANET | Detail | |
| 0.120 | Cocaine-Related Disorders | NA | CTD_human | Detail | |
| <0.001 | Gastrointestinal Stromal Tumors | NA | BeFree | Detail | |
| <0.001 | Epithelial hyperplasia of skin | NA | BeFree | Detail | |
| <0.001 | Herpes encephalitis | NA | BeFree | Detail | |
| <0.001 | Disease due to Parvoviridae | Suppression of Tyk2 and Stat1, which are important downstream molecules for IFN-... | BeFree | 25727013 | Detail |
| <0.001 | gallbladder adenocarcinoma | NA | BeFree | Detail | |
| 0.004 | Autoimmune Diseases | In this study, we characterized two rare Tyk2 variants, I684S and P1104A, which ... | BeFree | 23359498 | Detail |
| <0.001 | Primary immune deficiency disorder | NA | BeFree | Detail | |
| 0.005 | lupus erythematosus | NA | BeFree,GAD | Detail | |
| 0.005 | Hepatitis C, Chronic | NA | GAD | Detail | |
| <0.001 | Lymphoid neoplasm | NA | BeFree | Detail | |
| <0.001 | Thrombocythemia, Essential | Tyk2 mutation homologous to V617F Jak2 is not found in essential thrombocythaemi... | BeFree | 17011030 | Detail |
| <0.001 | polycythemia vera | JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation... | BeFree | 16239216 | Detail |
| <0.001 | Secondary malignant neoplasm of lymph node | NA | BeFree | Detail | |
| <0.001 | colon carcinoma | Fifteen genes (DUSP2, INFGR1, IL6, IRF2, JAK2, MAP3K10, MMP1, NFkB1A, NOS2A, PIK... | BeFree | 25541970 | Detail |
| <0.001 | Punctate inner choroidopathy | Importantly, TYK2 inhibition prevented PIC-induced β-cell apoptosis via the mito... | BeFree | 26239055 | Detail |
| 0.002 | Malignant neoplasm of ovary | NA | GAD | Detail | |
| <0.001 | major depressive disorder | NA | BeFree | Detail | |
| 0.120 | Lymphoma, Primary Cutaneous Anaplastic Large Cell | NA | ORPHANET | Detail | |
| 0.120 | Paranoia | NA | CTD_human | Detail | |
| <0.001 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | NA | BeFree | Detail | |
| <0.001 | Hyper-Immunoglobulin E Syndrome, Autosomal Recessive | NA | BeFree | Detail | |
| 0.360 | Tyrosine Kinase 2 Deficiency | NA | BeFree,CLINVAR,CTD_human,ORPHANET | Detail | |
| <0.001 | Craniofacial dysostosis type 1 | NA | BeFree | Detail | |
| 0.002 | myelodysplastic syndrome | NA | GAD | Detail | |
| <0.001 | Primary myelofibrosis | NA | BeFree | Detail | |
| 0.241 | rheumatoid arthritis | Therefore, single nucleotide polymorphisms of 14 genes involved in cellular adhe... | BeFree,CTD_human,GWASCAT | 25147926 | Detail |
| 0.002 | asthma | NA | GAD | Detail | |
| 0.004 | Autoimmune Diseases | NA | BeFree,LHGDN | Detail | |
| 0.002 | Bronchiolitis, Viral | NA | GAD | Detail | |
| <0.001 | Malignant tumor of colon | Fifteen genes (DUSP2, INFGR1, IL6, IRF2, JAK2, MAP3K10, MMP1, NFkB1A, NOS2A, PIK... | BeFree | 25541970 | Detail |
| <0.001 | renal cell carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| TYK2, a Candidate Gene for Type 1 Diabetes, Modulates Apoptosis and the Innate Immune Response in Hu... | 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 |
| 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 |
| TYK2-silenced human β-cells exposed to polyinosinic-polycitidilic acid (PIC) (a mimick of double-str... | DisGeNET | Detail |
| Recurrent chimeras combining a transcription factor (NFkB2 or NCOR2) with a tyrosine kinase (ROS1 or... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Suppression of Tyk2 and Stat1, which are important downstream molecules for IFN-α signaling, sensiti... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In this study, we characterized two rare Tyk2 variants, I684S and P1104A, which have been associated... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Tyk2 mutation homologous to V617F Jak2 is not found in essential thrombocythaemia, although it induc... | DisGeNET | Detail |
| JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation: cross-talk with IG... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Fifteen genes (DUSP2, INFGR1, IL6, IRF2, JAK2, MAP3K10, MMP1, NFkB1A, NOS2A, PIK3CA, SEPX1, SMAD3, T... | DisGeNET | Detail |
| Importantly, TYK2 inhibition prevented PIC-induced β-cell apoptosis via the mitochondrial pathway 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 |
| Therefore, single nucleotide polymorphisms of 14 genes involved in cellular adhesion processes (CAST... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Fifteen genes (DUSP2, INFGR1, IL6, IRF2, JAK2, MAP3K10, MMP1, NFkB1A, NOS2A, PIK3CA, SEPX1, SMAD3, T... | 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
- rs386525782 dbSNP
- Genome
- hg38
- Position
- chr19:10,350,533-10,380,608
- Variant Type
- snv
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