chr11:119206298:> Detail (hg38) (CBL)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:119,077,008-119,178,859 |
| hg38 | chr11:119,206,298-119,308,149 |
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 |
|---|---|---|---|---|---|
| 0.120 | Developmental Disabilities | NA | BeFree,CTD_human | Detail | |
| 0.120 | cryptorchidism | NA | CTD_human | Detail | |
| 0.002 | Diabetes Mellitus, Non-Insulin-Dependent | NA | GAD | Detail | |
| <0.001 | Experimental Autoimmune Encephalomyelitis | NA | BeFree | Detail | |
| <0.001 | Gastrointestinal Neoplasms | NA | BeFree | Detail | |
| 0.120 | Growth Disorders | NA | CTD_human | Detail | |
| <0.001 | HIV Infections | NA | BeFree | Detail | |
| <0.001 | Acute lymphocytic leukemia | NA | BeFree | Detail | |
| 0.011 | Leukemia, Myelocytic, Acute | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | Myeloid Leukemia, Chronic | Collectively, our results demonstrate a pivotal role for CBL in the control of a... | BeFree | 25965880 | Detail |
| 0.004 | Leukemia, Myelomonocytic, Chronic | NA | BeFree,GAD | Detail | |
| <0.001 | Lupus Vulgaris | NA | BeFree | Detail | |
| <0.001 | Lupus Erythematosus, Discoid | NA | BeFree | Detail | |
| <0.001 | Lupus Erythematosus, Systemic | NA | BeFree | Detail | |
| <0.001 | Lymphocytosis | NA | BeFree | Detail | |
| <0.001 | lymphoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
| <0.001 | Monosomy | NA | BeFree | Detail | |
| <0.001 | Moyamoya disease | Germline mutation of CBL is associated with moyamoya disease in a child with juv... | BeFree | 25283271 | Detail |
| <0.001 | Myelodysplasia | NA | BeFree | Detail | |
| 0.001 | Myeloproliferative disease | NA | BeFree | Detail | |
| <0.001 | Noonan syndrome | Germline mutation of CBL is associated with moyamoya disease in a child with juv... | BeFree | 25283271 | Detail |
| <0.001 | polycythemia vera | NA | BeFree | Detail | |
| 0.003 | Preleukemia | NA | BeFree,GAD | Detail | |
| 0.003 | Prostatic Neoplasms | NA | LHGDN | Detail | |
| <0.001 | Thrombocythemia, Essential | NA | BeFree | Detail | |
| 0.002 | Tobacco use disorder | NA | GAD | Detail | |
| 0.120 | vasculitis | NA | CTD_human | Detail | |
| <0.001 | B-Cell Lymphomas | NA | BeFree | Detail | |
| <0.001 | Lymphoma, T-Cell, Cutaneous | c-CBL E3 ubiquitin ligase is overexpressed in cutaneous T-cell lymphoma: its inh... | BeFree | 25140833 | Detail |
| <0.001 | gestational diabetes | NA | BeFree | Detail | |
| <0.001 | acute leukemia | NA | BeFree | Detail | |
| <0.001 | hypoplastic left heart syndrome | NA | BeFree | Detail | |
| <0.001 | Mastocytosis, Systemic | All patients with (A)SM-AHNMD (n=12) carried 1-4 (median 3) additional mutations... | BeFree | 25567135 | Detail |
| <0.001 | pancreatic carcinoma | Low expression of the E3 ubiquitin ligase CBL confers chemoresistance in human p... | BeFree | 25348515 | Detail |
| <0.001 | Gastrointestinal Stromal Tumors | NA | BeFree | Detail | |
| <0.001 | Miller Dieker syndrome | NA | BeFree | Detail | |
| <0.001 | secondary acute myeloid leukemia | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of pancreas | Low expression of the E3 ubiquitin ligase CBL confers chemoresistance in human p... | BeFree | 25348515 | Detail |
| <0.001 | Human immunodeficiency virus, type 2 [HIV-2] infection in conditions classified elsewhere and of unspecified site | NA | BeFree | Detail | |
| <0.001 | Hematologic Neoplasms | NA | BeFree | Detail | |
| <0.001 | lupus erythematosus | NA | BeFree | Detail | |
| <0.001 | Ewings sarcoma | NA | BeFree | Detail | |
| <0.001 | Carcinogenesis | NA | BeFree | Detail | |
| <0.001 | Primary myelofibrosis | We have studied the mutational status of TET2 (complete coding region), ASXL1 (e... | BeFree | 21904853 | Detail |
| <0.001 | Thrombocythemia, Essential | We have studied the mutational status of TET2 (complete coding region), ASXL1 (e... | BeFree | 21904853 | Detail |
| <0.001 | polycythemia vera | We have studied the mutational status of TET2 (complete coding region), ASXL1 (e... | BeFree | 21904853 | Detail |
| <0.001 | Ewings sarcoma-primitive neuroectodermal tumor (PNET) | NA | BeFree | Detail | |
| <0.001 | stomach carcinoma | NA | BeFree | Detail | |
| 0.002 | Jacobsen Distal 11q Deletion Syndrome | NA | BeFree | Detail | |
| <0.001 | thrombocytosis | NA | BeFree | Detail | |
| <0.001 | Rhabdoid Tumor of the Kidney | NA | BeFree | Detail | |
| <0.001 | Chronic myeloproliferative disorder | NA | BeFree | Detail | |
| <0.001 | Myelodysplastic-Myeloproliferative Diseases | NA | BeFree | Detail | |
| <0.001 | Acute Myeloid Leukemia Arising from Previous Myelodysplastic Syndrome | NA | BeFree | Detail | |
| <0.001 | pancreatic ductal adenocarcinoma | These results suggest that dysregulation of ubiquitination is a key mechanism of... | BeFree | 25348515 | Detail |
| <0.001 | Precursor Cell Lymphoblastic Leukemia Lymphoma | NA | BeFree | Detail | |
| <0.001 | NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME | NA | BeFree | Detail | |
| <0.001 | Moyamoya disease 1 | Germline mutation of CBL is associated with moyamoya disease in a child with juv... | BeFree | 25283271 | Detail |
| <0.001 | Refractory anemia, without ringed sideroblasts, without excess blasts | NA | BeFree | Detail | |
| 0.003 | myelodysplastic syndrome | NA | BeFree,GAD | Detail | |
| <0.001 | Neuroepithelioma, Peripheral | NA | BeFree | Detail | |
| <0.001 | core binding factor acute myeloid leukemia | NA | BeFree | Detail | |
| <0.001 | Primary myelofibrosis | NA | BeFree | Detail | |
| <0.001 | Refractory anemias | NA | BeFree | Detail | |
| <0.001 | Refractory anaemia with excess blasts | NA | BeFree | Detail | |
| <0.001 | Blast Phase | NA | BeFree | Detail | |
| <0.001 | Bloom syndrome | 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 |
| Collectively, our results demonstrate a pivotal role for CBL in the control of a tyrosine kinase net... | 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 |
| Germline mutation of CBL is associated with moyamoya disease in a child with juvenile myelomonocytic... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Germline mutation of CBL is associated with moyamoya disease in a child with juvenile myelomonocytic... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| c-CBL E3 ubiquitin ligase is overexpressed in cutaneous T-cell lymphoma: its inhibition promotes act... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| All patients with (A)SM-AHNMD (n=12) carried 1-4 (median 3) additional mutations in 11 genes tested,... | DisGeNET | Detail |
| Low expression of the E3 ubiquitin ligase CBL confers chemoresistance in human pancreatic cancer and... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Low expression of the E3 ubiquitin ligase CBL confers chemoresistance in human pancreatic cancer and... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132),... | DisGeNET | Detail |
| We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132),... | DisGeNET | Detail |
| We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132),... | 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 dysregulation of ubiquitination is a key mechanism of EGFR hyperactivatio... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Germline mutation of CBL is associated with moyamoya disease in a child with juvenile myelomonocytic... | 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 |
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
- chr11:119,206,298-119,308,149
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- MUTATION
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2699
Genome browser