RUNX1 (GeneID: 861) | Homo sapiens
Description: runt related transcription factor 1 [Source:HGNC Symbol;Acc:HGNC:10471]
Synonyms: PEBP2alpha, CBF2alpha, AML1, PEBP2aB, AMLCR1, VI-1, CBFA2, AML1-EVI-1
Other ID(s): ENSG00000159216, HGNC:10471
Protein Accession Numbers: ENST00000437180, ENST00000358356, ENST00000486278, ENST00000399237, ENST00000300305.3, ENST00000455571, ENST00000300305, ENST00000475045, ENST00000399240, NP_001116079, ENST00000325074, ENST00000416754, ENST00000344691, ENST00000482318, NP_001001890, NP_001745
Statistics: ClinVar(524) gnomAD(844) COSMIC(3523) PTM(51)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000300305 You are here now! ENST00000325074 ENST00000344691 ENST00000358356 ENST00000399237 ENST00000399240 ENST00000416754 ENST00000437180 You are here now! ENST00000455571 ENST00000475045 ENST00000482318 ENST00000486278 NP_001001890 NP_001116079 NP_001745 You are here now!


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00853 Runt Runt domain 51-179 CL0073 P53-like Homo sapiens
PF08504 RunxI Runx inhibition domain 362-453 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Rheumatoid Arthritis Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ; 0.467 0.69
Burkitt Lymphoma Virus Diseases ; Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.467 0.69
Cytopenia N/A 0.467 0.69
Glioblastoma Neoplasms ; 0.467 0.69
Childhood Acute Lymphoblastic Leukemia Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.467 0.69
Leukemia, Lymphocytic, Acute, L2 Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.467 0.69
Leukemia, Myelocytic, Acute Neoplasms ; 0.467 0.69
Myeloid Leukemia, Chronic Neoplasms ; Hemic and Lymphatic Diseases ; 0.467 0.69
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.467 0.69
Acute Myeloid Leukemia, M1 Neoplasms ; 0.467 0.69
Platelet Storage Pool Deficiency Hemic and Lymphatic Diseases ; 0.467 0.69
Prostatic Neoplasms Neoplasms ; Male Urogenital Diseases ; 0.467 0.69
Congenital anemia N/A 0.467 0.69
Giant Cell Glioblastoma Neoplasms ; 0.467 0.69
Juvenile Myelomonocytic Leukemia Neoplasms ; Hemic and Lymphatic Diseases ; 0.467 0.69
Malignant neoplasm of prostate Neoplasms ; Male Urogenital Diseases ; 0.467 0.69
Hematologic Neoplasms Neoplasms ; Hemic and Lymphatic Diseases ; 0.467 0.69
Precursor B-cell lymphoblastic leukemia N/A 0.467 0.69
Glioblastoma Multiforme Neoplasms ; 0.467 0.69
Platelet Disorder, Familial, with Associated Myeloid Malignancy Neoplasms ; Hemic and Lymphatic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.467 0.69
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.467 0.69
Precursor Cell Lymphoblastic Leukemia Lymphoma Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.467 0.69
Hematopoetic Myelodysplasia Hemic and Lymphatic Diseases ; 0.467 0.69
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells Eye Diseases ; Hemic and Lymphatic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; Nutritional and Metabolic Diseases ; 0.467 0.69
MYELODYSPLASTIC SYNDROME Hemic and Lymphatic Diseases ; 0.467 0.69
NO RESULT FOUND
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