chr19:4229523:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:4,229,520-4,237,525 |
| hg38 | chr19:4,229,523-4,237,528 |
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 | ulcerative colitis | NA | BeFree | Detail | |
| <0.001 | Dermatitis, Atopic | NA | BeFree | Detail | |
| <0.001 | scleroderma | EBI3 Downregulation Contributes to Type I Collagen Overexpression in Scleroderma... | BeFree | 26355156 | Detail |
| <0.001 | Diabetes Mellitus, Insulin-Dependent | NA | BeFree | Detail | |
| <0.001 | Diabetes Mellitus, Non-Insulin-Dependent | NA | BeFree | Detail | |
| <0.001 | Diabetic Nephropathy | NA | BeFree | Detail | |
| <0.001 | Eczema | NA | BeFree | Detail | |
| <0.001 | glioblastoma | NA | BeFree | Detail | |
| <0.001 | Graft-vs-Host Disease | NA | BeFree | Detail | |
| <0.001 | hepatitis B | NA | BeFree | Detail | |
| <0.001 | Hepatitis, Alcoholic | NA | BeFree | Detail | |
| <0.001 | HIV Infections | NA | BeFree | Detail | |
| <0.001 | Immunologic Deficiency Syndromes | NA | BeFree | Detail | |
| 0.004 | Inflammatory Bowel Diseases | NA | BeFree,LHGDN | Detail | |
| <0.001 | influenza | The human CCR5 gene encodes a cytokine receptor important for cell-mediated immu... | BeFree | 25100510 | Detail |
| <0.001 | irritable bowel syndrome | SNPs in immune-related genes, such as cytokine and cytokine receptor encoding ge... | BeFree | 25824902 | Detail |
| <0.001 | leukemia | NA | BeFree | Detail | |
| 0.002 | Acute lymphocytic leukemia | Frequent mutations in cytokine receptor and Janus kinase (JAK)/signal transducer... | BeFree | 25645356 | Detail |
| <0.001 | Leukemia, Lymphocytic, Acute, L1 | NA | BeFree | Detail | |
| <0.001 | Leukemia, Myelocytic, Acute | NA | BeFree | Detail | |
| <0.001 | myeloid leukemia | NA | BeFree | Detail | |
| <0.001 | Myeloid Leukemia, Chronic | Among them, complex 1 is involved in pathways that are related to cytokine secre... | BeFree | 25040996 | Detail |
| <0.001 | Lupus Erythematosus, Systemic | NA | BeFree | Detail | |
| <0.001 | lymphoma | NA | BeFree | Detail | |
| <0.001 | Lymphoma, Follicular | NA | BeFree | Detail | |
| <0.001 | Lymphoproliferative Disorders | NA | BeFree | Detail | |
| <0.001 | malaria | The data indicates dissimilar contribution of cytokine and cytokine receptor var... | BeFree | 25445652 | Detail |
| <0.001 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
| 0.001 | measles | NA | BeFree | Detail | |
| <0.001 | melanoma | NA | BeFree | Detail | |
| <0.001 | meningioma | NA | BeFree | Detail | |
| <0.001 | multiple sclerosis | NA | BeFree | Detail | |
| <0.001 | Myeloproliferative disease | NA | BeFree | Detail | |
| 0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
| <0.001 | neuroblastoma | To better understand the effect of MSC secretome on chemokine receptors in neuro... | BeFree | 25774696 | Detail |
| <0.001 | Degenerative polyarthritis | Immunohistochemical and immunofluorescence analysis was used to determine the ex... | BeFree | 25697137 | Detail |
| <0.001 | Degenerative polyarthritis | DEGs of OA were mainly enriched in the pathways associated with cytokine-cytokin... | BeFree | 25807424 | Detail |
| <0.001 | Pruritus | NA | BeFree | Detail | |
| <0.001 | Respiratory Syncytial Virus Infections | NA | BeFree | Detail | |
| <0.001 | rubella | NA | BeFree | Detail | |
| <0.001 | schizophrenia | NA | BeFree | Detail | |
| <0.001 | systemic scleroderma | EBI3 Downregulation Contributes to Type I Collagen Overexpression in Scleroderma... | BeFree | 26355156 | Detail |
| <0.001 | Septicemia | The effects of heterodimeric IL-27 (p28/EBI3) have been implicated in the natura... | BeFree | 25348624 | Detail |
| <0.001 | smallpox | NA | BeFree | Detail | |
| <0.001 | ankylosing spondylitis | NA | BeFree | Detail | |
| 0.120 | Stomach Neoplasms | NA | CTD_human | Detail | |
| <0.001 | trachoma | NA | BeFree | Detail | |
| <0.001 | tuberculosis | The significant expression of IL-27 in TB and the negative influence of IL-27R o... | BeFree | 26282876 | Detail |
| <0.001 | B-Cell Lymphomas | NA | BeFree | Detail | |
| 0.002 | severe combined immunodeficiency | NA | BeFree | Detail | |
| <0.001 | Idiopathic pulmonary hypertension | NA | BeFree | Detail | |
| <0.001 | HELLP syndrome | NA | BeFree | Detail | |
| <0.001 | Intestinal infectious disease (disorder) | NA | BeFree | Detail | |
| <0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
| <0.001 | Female Pseudohermaphroditism | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of lung | NA | BeFree | Detail | |
| <0.001 | Sepsis | The effects of heterodimeric IL-27 (p28/EBI3) have been implicated in the natura... | BeFree | 25348624 | Detail |
| <0.001 | cervical squamous cell carcinoma | NA | BeFree | Detail | |
| <0.001 | chronic eosinophilic leukemia | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
| <0.001 | juvenile myelomonocytic leukemia | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of vulva | NA | BeFree | Detail | |
| <0.001 | Hyper-IgM Immunodeficiency Syndrome, Type 1 | NA | BeFree | Detail | |
| <0.001 | Leukemogenesis | NA | BeFree | Detail | |
| <0.001 | Myeloproliferative disease | Finally, we show that IL-27R can functionally replace a homodimeric type I cytok... | BeFree | 18003935 | Detail |
| <0.001 | CARCINOMA OF VULVA | NA | BeFree | Detail | |
| <0.001 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | stomach carcinoma | NA | BeFree | Detail | |
| <0.001 | airway disease | NA | BeFree | Detail | |
| <0.001 | Central neuroblastoma | To better understand the effect of MSC secretome on chemokine receptors in neuro... | BeFree | 25774696 | Detail |
| <0.001 | gastritis h pylori | NA | BeFree | Detail | |
| <0.001 | adult acute lymphocytic leukemia | NA | BeFree | Detail | |
| <0.001 | Marden-Walker syndrome | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of the head and neck | NA | BeFree | Detail | |
| <0.001 | TNF receptor-associated periodic fever syndrome (TRAPS) | NA | BeFree | Detail | |
| 0.002 | X-Linked Combined Immunodeficiency Diseases | NA | BeFree | Detail | |
| <0.001 | Precursor B-cell lymphoblastic leukemia | NA | BeFree | Detail | |
| <0.001 | childhood leukemia | NA | BeFree | Detail | |
| <0.001 | Cancer Cell Growth | NA | BeFree | Detail | |
| <0.001 | Meningioma, benign, no ICD-O subtype | NA | BeFree | Detail | |
| 0.002 | Precursor Cell Lymphoblastic Leukemia Lymphoma | Frequent mutations in cytokine receptor and Janus kinase (JAK)/signal transducer... | BeFree | 25645356 | Detail |
| <0.001 | Pulmonary arterial hypertension | NA | BeFree | Detail | |
| <0.001 | Allergic disposition | NA | BeFree | Detail | |
| <0.001 | Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia | NA | BeFree | Detail | |
| <0.001 | arteriosclerosis | NA | BeFree | Detail | |
| <0.001 | Arthritis, Psoriatic | Immunohistochemical and immunofluorescence analysis was used to determine the ex... | BeFree | 25697137 | Detail |
| <0.001 | rheumatoid arthritis | Using cell-specific markers, p35 and EBI3 were identified in macrophages, dendri... | BeFree | 25697137 | Detail |
| <0.001 | asthma | NA | BeFree | Detail | |
| <0.001 | atherosclerosis | NA | BeFree | Detail | |
| <0.001 | Autoimmune Diseases | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of breast | NA | BeFree | Detail | |
| <0.001 | Non-small cell lung carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| EBI3 Downregulation Contributes to Type I Collagen Overexpression in Scleroderma Skin. | 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 |
| The human CCR5 gene encodes a cytokine receptor important for cell-mediated immune response against ... | DisGeNET | Detail |
| SNPs in immune-related genes, such as cytokine and cytokine receptor encoding genes, have been repor... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Frequent mutations in cytokine receptor and Janus kinase (JAK)/signal transducer and activator of tr... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Among them, complex 1 is involved in pathways that are related to cytokine secretion, cytokine-recep... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The data indicates dissimilar contribution of cytokine and cytokine receptor variants to disease in ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| To better understand the effect of MSC secretome on chemokine receptors in neuroblastoma, and its ro... | DisGeNET | Detail |
| Immunohistochemical and immunofluorescence analysis was used to determine the expression and localiz... | DisGeNET | Detail |
| DEGs of OA were mainly enriched in the pathways associated with cytokine-cytokine receptor interacti... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| EBI3 Downregulation Contributes to Type I Collagen Overexpression in Scleroderma Skin. | DisGeNET | Detail |
| The effects of heterodimeric IL-27 (p28/EBI3) have been implicated in the natural course of sepsis, ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The significant expression of IL-27 in TB and the negative influence of IL-27R on T cell function de... | 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 |
| The effects of heterodimeric IL-27 (p28/EBI3) have been implicated in the natural course of sepsis, ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Finally, we show that IL-27R can functionally replace a homodimeric type I cytokine receptor in the ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| To better understand the effect of MSC secretome on chemokine receptors in neuroblastoma, and its ro... | 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 |
| Frequent mutations in cytokine receptor and Janus kinase (JAK)/signal transducer and activator of tr... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Immunohistochemical and immunofluorescence analysis was used to determine the expression and localiz... | DisGeNET | Detail |
| Using cell-specific markers, p35 and EBI3 were identified in macrophages, dendritic cells, SFs, and ... | DisGeNET | Detail |
| NA | 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
- -
- dbSNP
- rs386626619 dbSNP
- Genome
- hg38
- Position
- chr19:4,229,523-4,237,528
- Variant Type
- snv
Genome browser