chr16:88651940:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:88,718,348-88,729,499 |
| hg38 | chr16:88,651,940-88,663,091 |
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 | squamous cell carcinoma | NA | BeFree | Detail | |
| <0.001 | Diabetes | NA | BeFree | Detail | |
| <0.001 | diabetes mellitus | NA | BeFree | Detail | |
| <0.001 | Mastocytosis, Systemic | Control experiments showed that 10 indolent SM patients without associated MPD d... | BeFree | 18165278 | Detail |
| <0.001 | Hepatic Vein Thrombosis | NA | BeFree | Detail | |
| 0.001 | leukemia | NA | BeFree | Detail | |
| 0.002 | Leukemia, Myelocytic, Acute | NA | BeFree | Detail | |
| <0.001 | Myeloid Leukemia, Chronic | NA | BeFree | Detail | |
| <0.001 | Leukemia, Myelomonocytic, Chronic | NA | BeFree | Detail | |
| <0.001 | malaria | NA | BeFree | Detail | |
| <0.001 | Diseases of mitral valve | NA | BeFree | Detail | |
| 0.002 | myelofibrosis | MPD-RC 101 prospective study of reduced-intensity allogeneic hematopoietic stem ... | BeFree | 24963042 | Detail |
| 0.002 | Myeloproliferative disease | NA | BeFree | Detail | |
| 0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
| <0.001 | neurilemmoma | NA | BeFree | Detail | |
| <0.001 | neurofibroma | NA | BeFree | Detail | |
| <0.001 | Noonan syndrome | NA | BeFree | Detail | |
| <0.001 | ovarian carcinoma | Fibulin-4 expression was upregulated in ovarian carcinoma, and positively correl... | BeFree | 25885889 | Detail |
| <0.001 | polycythemia | NA | BeFree | Detail | |
| 0.002 | polycythemia vera | NA | BeFree | Detail | |
| 0.002 | Thrombocythemia, Essential | NA | BeFree | Detail | |
| <0.001 | T-Cell Lymphoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of mouth | NA | BeFree | Detail | |
| <0.001 | Lip and oral cavity carcinoma | NA | BeFree | Detail | |
| <0.001 | Mastocytosis, Systemic | NA | BeFree | Detail | |
| <0.001 | secondary myelofibrosis | NA | BeFree | Detail | |
| <0.001 | Parasitemia | NA | BeFree | Detail | |
| <0.001 | Miller Dieker syndrome | NA | BeFree | Detail | |
| 0.120 | Porokeratosis, Disseminated Superficial Actinic | NA | ORPHANET | Detail | |
| <0.001 | Non-small cell lung cancer stage I | Of the 102 stage I NSCLC specimens analyzed, high RBP2 protein expression is clo... | BeFree | 25162518 | Detail |
| <0.001 | Conventional (Clear Cell) Renal Cell Carcinoma | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of the hypopharynx | Integrin β1 and VEGF are overexpressed and MVD increased in hypopharyngeal squam... | BeFree | 25158264 | Detail |
| <0.001 | High-Grade Squamous Intraepithelial Lesions | NA | BeFree | Detail | |
| 0.002 | juvenile myelomonocytic leukemia | NA | BeFree | Detail | |
| <0.001 | Thyroid carcinoma | NA | BeFree | Detail | |
| <0.001 | Malignant glioma | NA | BeFree | Detail | |
| <0.001 | Leukemogenesis | NA | BeFree | Detail | |
| 0.002 | Thrombocythemia, Essential | Using novel mutation-specific PCR which is a highly sensitive PCR-based assay fo... | BeFree | 18612778 | Detail |
| 0.002 | Primary myelofibrosis | In this context, the distinctive role of a positive JAK2(V617F) mutation for the... | BeFree | 19605821 | Detail |
| 0.002 | Primary myelofibrosis | After a median follow-up of 41 months (range 3-114 months), three out of the 10 ... | BeFree | 17059429 | Detail |
| 0.002 | polycythemia vera | This indicates that JAK2 V617-positive ET patients, diagnosed according to the P... | BeFree | 16810609 | Detail |
| 0.002 | Leukemia, Myelocytic, Acute | In a second patient positive for JAK2-V617F at transformation, but with JAK2-V61... | BeFree | 17363731 | Detail |
| 0.002 | Primary myelofibrosis | Bone marrow histopathology in addition to clinical, laboratory, biological, and ... | BeFree | 16810609 | Detail |
| <0.001 | Epithelial ovarian cancer | Fibulin-4 expression was upregulated in ovarian carcinoma, and positively correl... | BeFree | 25885889 | Detail |
| <0.001 | Adjustment Disorders | In this context, the distinctive role of a positive JAK2(V617F) mutation for the... | BeFree | 19605821 | Detail |
| 0.002 | Thrombocythemia, Essential | Bone marrow histopathology in addition to clinical, laboratory, biological, and ... | BeFree | 16810609 | Detail |
| 0.002 | Myeloproliferative disease | Bone marrow histopathology in addition to clinical, laboratory, biological, and ... | BeFree | 16810609 | Detail |
| 0.002 | Primary myelofibrosis | Using novel mutation-specific PCR which is a highly sensitive PCR-based assay fo... | BeFree | 18612778 | Detail |
| 0.002 | myelofibrosis | Bone marrow histopathology in addition to clinical, laboratory, biological, and ... | BeFree | 16810609 | Detail |
| 0.002 | polycythemia vera | After a median follow-up of 41 months (range 3-114 months), three out of the 10 ... | BeFree | 17059429 | Detail |
| 0.002 | myelofibrosis | In this context, the distinctive role of a positive JAK2(V617F) mutation for the... | BeFree | 19605821 | Detail |
| <0.001 | breast carcinoma | NA | BeFree | Detail | |
| 0.002 | myelofibrosis | Using novel mutation-specific PCR which is a highly sensitive PCR-based assay fo... | BeFree | 18612778 | Detail |
| <0.001 | Secondary malignant neoplasm of lymph node | MVD differed significantly across different pathologic grades and different T st... | BeFree | 25158264 | Detail |
| <0.001 | malignant peripheral nerve sheath tumor | NA | BeFree | Detail | |
| <0.001 | thrombocytosis | NA | BeFree | Detail | |
| <0.001 | Budd-Chiari syndrome | NA | BeFree | Detail | |
| <0.001 | precancerous lesions | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of ovary | NA | BeFree | Detail | |
| 0.002 | Chronic myeloproliferative disorder | NA | BeFree | Detail | |
| <0.001 | Low Grade Squamous Intraepithelial Neoplasia | NA | BeFree | Detail | |
| <0.001 | Tumor Angiogenesis | Of the 102 stage I NSCLC specimens analyzed, high RBP2 protein expression is clo... | BeFree | 25162518 | Detail |
| <0.001 | coronary artery disease | NA | BeFree | Detail | |
| <0.001 | liver carcinoma | NA | BeFree | Detail | |
| <0.001 | Adjustment Disorders | NA | BeFree | Detail | |
| 0.002 | Primary myelofibrosis | MPD-RC 101 prospective study of reduced-intensity allogeneic hematopoietic stem ... | BeFree | 24963042 | Detail |
| <0.001 | Anemia, Sickle Cell | NA | BeFree | Detail | |
| <0.001 | Blast Phase | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of breast | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of thyroid | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Control experiments showed that 10 indolent SM patients without associated MPD did not carry the JAK... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| MPD-RC 101 prospective study of reduced-intensity allogeneic hematopoietic stem cell transplantation... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Fibulin-4 expression was upregulated in ovarian carcinoma, and positively correlated with MVD and VE... | 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 |
| Of the 102 stage I NSCLC specimens analyzed, high RBP2 protein expression is closely associated with... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Integrin β1 and VEGF are overexpressed and MVD increased in hypopharyngeal squamous cell carcinomas.... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Using novel mutation-specific PCR which is a highly sensitive PCR-based assay for detection of JAK2 ... | DisGeNET | Detail |
| In this context, the distinctive role of a positive JAK2(V617F) mutation for the diagnosis of Ph- MP... | DisGeNET | Detail |
| After a median follow-up of 41 months (range 3-114 months), three out of the 10 patients carrying th... | DisGeNET | Detail |
| This indicates that JAK2 V617-positive ET patients, diagnosed according to the PVSG criteria, repres... | DisGeNET | Detail |
| In a second patient positive for JAK2-V617F at transformation, but with JAK2-V617F-negative leukemic... | DisGeNET | Detail |
| Bone marrow histopathology in addition to clinical, laboratory, biological, and molecular markers, i... | DisGeNET | Detail |
| Fibulin-4 expression was upregulated in ovarian carcinoma, and positively correlated with MVD and VE... | DisGeNET | Detail |
| In this context, the distinctive role of a positive JAK2(V617F) mutation for the diagnosis of Ph- MP... | DisGeNET | Detail |
| Bone marrow histopathology in addition to clinical, laboratory, biological, and molecular markers, i... | DisGeNET | Detail |
| Bone marrow histopathology in addition to clinical, laboratory, biological, and molecular markers, i... | DisGeNET | Detail |
| Using novel mutation-specific PCR which is a highly sensitive PCR-based assay for detection of JAK2 ... | DisGeNET | Detail |
| Bone marrow histopathology in addition to clinical, laboratory, biological, and molecular markers, i... | DisGeNET | Detail |
| After a median follow-up of 41 months (range 3-114 months), three out of the 10 patients carrying th... | DisGeNET | Detail |
| In this context, the distinctive role of a positive JAK2(V617F) mutation for the diagnosis of Ph- MP... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Using novel mutation-specific PCR which is a highly sensitive PCR-based assay for detection of JAK2 ... | DisGeNET | Detail |
| MVD differed significantly across different pathologic grades and different T stages, and regarding ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Of the 102 stage I NSCLC specimens analyzed, high RBP2 protein expression is closely associated with... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| MPD-RC 101 prospective study of reduced-intensity allogeneic hematopoietic stem cell transplantation... | 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
- chr16:88,651,940-88,663,091
- Variant Type
- snv
Genome browser