The RUNX1 gene homepage

General information
Gene symbol RUNX1
Gene name runt-related transcription factor 1
Chromosome 21
Chromosomal band q22.3
Imprinted Unknown
Genomic reference LRG_482
Transcript reference NM_001001890.2, NM_001122607.1, NM_001754.4, XM_005261068.2, XM_005261069.2
Associated with diseases AML, FPDMM
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 105
Unique public DNA variants reported 6
Individuals with public variants 35
Hidden variants 68
Date created November 30, -0001
Date last updated September 28, 2016
Version RUNX1:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:10471
Entrez Gene 861
PubMed articles RUNX1
OMIM - Gene 151385
OMIM - Diseases AML (leukemia, myeloid, acute (AML))
FPDMM (platelet disorder, familial, with associated myeloid malignancy (FPDMM))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00013978 21 transcript variant 1 NM_001754.4 NP_001745.2 74
00023565 21 Manually created transcript NM_001122607.1 - 62
00023392 21 Manually created transcript NM_001001890.2 - 57
00042194 21 transcript variant X3 XM_005261069.2 XP_005261126.1 -
00042195 21 transcript variant X2 XM_005261068.2 XP_005261125.1 -