chr8:91954972:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:92,967,200-93,115,613 |
| hg38 | chr8:91,954,972-92,103,385 |
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 |
|---|---|---|---|---|---|
| 0.002 | Congenital chromosomal disease | A recurrent chromosomal abnormality in acute myeloid leukemia is the reciprocal ... | BeFree | 26333776 | Detail |
| 0.003 | Presenile dementia | As part of a cohort study, cognitively normal (Clinical Dementia Rating [CDR] of... | BeFree | 26147946 | Detail |
| <0.001 | Down syndrome | NA | BeFree | Detail | |
| <0.001 | Endocrine Gland Neoplasms | NA | BeFree | Detail | |
| <0.001 | Exanthema | NA | BeFree | Detail | |
| <0.001 | HIV Infections | NA | BeFree | Detail | |
| <0.001 | Kartagener syndrome | NA | BeFree | Detail | |
| 0.035 | leukemia | C/EBPα expression is suppressed as a result of common leukemia-associated geneti... | BeFree,LHGDN | 25760953 | Detail |
| 0.035 | leukemia | Thus, Wnt/β-catenin signaling induces transcription and translocation of RUNX1 a... | BeFree,LHGDN | 26333776 | Detail |
| <0.001 | chronic lymphocytic leukemia | NA | BeFree | Detail | |
| <0.001 | lymphoid leukemia | NA | BeFree | Detail | |
| 0.001 | Acute lymphocytic leukemia | NA | BeFree | Detail | |
| <0.001 | Acute Megakaryocytic Leukemias | NA | BeFree | Detail | |
| 0.206 | Leukemia, Myelocytic, Acute | In acute myeloid leukaemia (AML), the presence of t(8;21)(q22;q22) and inv(16)(p... | BeFree,CTD_human,LHGDN | 25635758 | Detail |
| 0.206 | Leukemia, Myelocytic, Acute | In this study, we present a novel Tet2-dependent leukemia mouse model that close... | BeFree,CTD_human,LHGDN | 25886910 | Detail |
| 0.206 | Leukemia, Myelocytic, Acute | Genome-wide co-occupancy of AML1-ETO and N-CoR defines the t(8;21) AML signature... | BeFree,CTD_human,LHGDN | 25928846 | Detail |
| 0.206 | Leukemia, Myelocytic, Acute | Moreover, we found a favorable clinical outcome in patients expressing fusion ge... | BeFree,CTD_human,LHGDN | 26299742 | Detail |
| 0.206 | Leukemia, Myelocytic, Acute | A recurrent chromosomal abnormality in acute myeloid leukemia is the reciprocal ... | BeFree,CTD_human,LHGDN | 26333776 | Detail |
| 0.004 | myeloid leukemia | NA | BeFree | Detail | |
| 0.001 | Myeloid Leukemia, Chronic | NA | BeFree | Detail | |
| <0.001 | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | NA | BeFree | Detail | |
| 0.002 | acute promyelocytic leukemia | NA | BeFree | Detail | |
| <0.001 | Leukoencephalopathy, Progressive Multifocal | NA | BeFree | Detail | |
| <0.001 | Lymphoma, Follicular | NA | BeFree | Detail | |
| <0.001 | melanoma | NA | BeFree | Detail | |
| <0.001 | multiple myeloma | NA | BeFree | Detail | |
| <0.001 | Myelodysplasia | NA | BeFree | Detail | |
| <0.001 | Myeloproliferative disease | NA | BeFree | Detail | |
| <0.001 | myocardial infarction | NA | BeFree | Detail | |
| <0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
| 0.001 | nephroblastoma | NA | BeFree | Detail | |
| <0.001 | polycythemia vera | NA | BeFree | Detail | |
| <0.001 | Preleukemia | NA | BeFree | Detail | |
| <0.001 | Cerebrovascular accident | NA | BeFree | Detail | |
| <0.001 | progressive supranuclear palsy | AD and PSP were matched for severity using the clinical dementia rating sum of b... | BeFree | 24899730 | Detail |
| <0.001 | Thrombocythemia, Essential | NA | BeFree | Detail | |
| <0.001 | Virus Diseases | NA | BeFree | Detail | |
| 0.003 | B-Cell Lymphomas | NA | BeFree,LHGDN | Detail | |
| <0.001 | Lymphoma, AIDS-Related | NA | BeFree | Detail | |
| <0.001 | Neurofibrillary degeneration (morphologic abnormality) | NA | BeFree | Detail | |
| 0.001 | acute leukemia | NA | BeFree | Detail | |
| 0.120 | Small cell carcinoma of lung | NA | CTD_human | Detail | |
| <0.001 | congenital heart disease | NA | BeFree | Detail | |
| 0.002 | pediatric acute myeloblastic leukemia | NA | BeFree | Detail | |
| <0.001 | Mastocytosis, Systemic | NA | BeFree | Detail | |
| <0.001 | Cerebral atrophy | NA | BeFree | Detail | |
| <0.001 | secondary myelofibrosis | NA | BeFree | Detail | |
| <0.001 | Parkinsonian Disorders | NA | BeFree | Detail | |
| 0.007 | Neoplasm, Residual | We asked whether minimal residual disease (MRD) determined by RUNX1/RUNX1T1 tran... | BeFree | 25082877 | Detail |
| <0.001 | Cerebellar degeneration | NA | BeFree | Detail | |
| <0.001 | Senile Plaques | NA | BeFree | Detail | |
| 0.001 | Impaired cognition | NA | BeFree | Detail | |
| 0.003 | Hematologic Neoplasms | NA | BeFree,LHGDN | Detail | |
| <0.001 | Secondary malignant neoplasm of liver | NA | BeFree | Detail | |
| 0.003 | dementia | As part of a cohort study, cognitively normal (Clinical Dementia Rating [CDR] of... | BeFree | 26147946 | Detail |
| <0.001 | Carcinogenesis | NA | BeFree | Detail | |
| 0.012 | Leukemogenesis | AML1/ETO cooperates with HIF1α to promote leukemogenesis through DNMT3a transact... | BeFree | 25727291 | Detail |
| 0.012 | Leukemogenesis | We show in this study that both overexpression and knockout of microRNA (miR)-12... | BeFree | 26361793 | Detail |
| <0.001 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Spots on skin | NA | BeFree | Detail | |
| <0.001 | Persistent infection | NA | BeFree | Detail | |
| 0.001 | Mild cognitive disorder | Although the Clinical Dementia Rating Scale-Sum of Boxes score (CDR-SB) is a wid... | BeFree | 25022537 | Detail |
| <0.001 | Chronic myeloproliferative disorder | NA | BeFree | Detail | |
| <0.001 | childhood leukemia | NA | BeFree | Detail | |
| <0.001 | Treatment related acute myeloid leukaemia | NA | BeFree | Detail | |
| <0.001 | Cognitive changes | Although the Clinical Dementia Rating Scale-Sum of Boxes score (CDR-SB) is a wid... | BeFree | 25022537 | Detail |
| <0.001 | Xenograft Model | NA | BeFree | Detail | |
| 0.002 | MULTICYSTIC RENAL DYSPLASIA, BILATERAL | NA | BeFree | Detail | |
| 0.002 | Acute Myeloid Leukemia (AML-M2) | NA | BeFree | Detail | |
| 0.001 | Precursor Cell Lymphoblastic Leukemia Lymphoma | NA | BeFree | Detail | |
| <0.001 | Promyelocytic leukemia | NA | BeFree | Detail | |
| <0.001 | myelodysplastic syndrome | NA | BeFree | Detail | |
| <0.001 | Mild dementia | NA | BeFree | Detail | |
| <0.001 | core binding factor acute myeloid leukemia | Core Binding Factor acute myeloid leukemia (CBF-AML) with t(8;21) RUNX1-MTG8 or ... | BeFree | 25612891 | Detail |
| <0.001 | Alzheimer's disease | The best composite score was Word Recall + Delayed Word Recall + Orientation + C... | BeFree | 25022537 | Detail |
| <0.001 | Alzheimer's disease | The serum levels of mRNA and protein of calreticulin were lower in AD patients t... | BeFree | 25429433 | Detail |
| <0.001 | rheumatoid arthritis | NA | BeFree | Detail | |
| <0.001 | Bacterial Infections | NA | BeFree | Detail | |
| <0.001 | Blast Phase | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of breast | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| A recurrent chromosomal abnormality in acute myeloid leukemia is the reciprocal translocation t(8;21... | DisGeNET | Detail |
| As part of a cohort study, cognitively normal (Clinical Dementia Rating [CDR] of 0) middle-aged rese... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| C/EBPα expression is suppressed as a result of common leukemia-associated genetic and epigenetic alt... | DisGeNET | Detail |
| Thus, Wnt/β-catenin signaling induces transcription and translocation of RUNX1 and ETO fusion gene p... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In acute myeloid leukaemia (AML), the presence of t(8;21)(q22;q22) and inv(16)(p13q22)/t(16;16)(p13;... | DisGeNET | Detail |
| In this study, we present a novel Tet2-dependent leukemia mouse model that closely recapitulates gen... | DisGeNET | Detail |
| Genome-wide co-occupancy of AML1-ETO and N-CoR defines the t(8;21) AML signature in leukemic cells. | DisGeNET | Detail |
| Moreover, we found a favorable clinical outcome in patients expressing fusion genes AML1-ETO or PMLR... | DisGeNET | Detail |
| A recurrent chromosomal abnormality in acute myeloid leukemia is the reciprocal translocation t(8;21... | 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 |
| AD and PSP were matched for severity using the clinical dementia rating sum of boxes (CDR-sb) scores... | 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 asked whether minimal residual disease (MRD) determined by RUNX1/RUNX1T1 transcript levels could ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| As part of a cohort study, cognitively normal (Clinical Dementia Rating [CDR] of 0) middle-aged rese... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| AML1/ETO cooperates with HIF1α to promote leukemogenesis through DNMT3a transactivation. | DisGeNET | Detail |
| We show in this study that both overexpression and knockout of microRNA (miR)-126 surprisingly resul... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Although the Clinical Dementia Rating Scale-Sum of Boxes score (CDR-SB) is a widely accepted and com... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Although the Clinical Dementia Rating Scale-Sum of Boxes score (CDR-SB) is a widely accepted and com... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Core Binding Factor acute myeloid leukemia (CBF-AML) with t(8;21) RUNX1-MTG8 or inv(16) CBFB-MYH11 f... | DisGeNET | Detail |
| The best composite score was Word Recall + Delayed Word Recall + Orientation + CDR-SB + FAQ, more se... | DisGeNET | Detail |
| The serum levels of mRNA and protein of calreticulin were lower in AD patients than those from a hea... | 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
- -
- Genome
- hg38
- Position
- chr8:91,954,972-92,103,385
- Variant Type
- snv
Genome browser