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RUNX1

Basic information

Official gene symbol
RUNX family transcription factor 1
Conventional gene symbol
AML1, AML1-EVI-1, AMLCR1, CBF2alpha, CBFA2, EVI-1, PEBP2aB, PEBP2alpha
Classification
Oncogene / Tumor suppressor gene
Official gene ID
861(Refseq)
861 (KEGG)
Transcript ID
NM_001001890
Functional classification
Transcriptional regulation
Signaling pathway
Transcriptional regulation
Chromosomal location
21q22.12 (chr21:36164432..36259409, complement)
Protein length
453

Chromosome ideogram

Frequency of somatic alterationsTumor type

Base substitutions, insertions, and deletions

Copy number alterations

Distribution of tumor mutation burdenTMB

List of driver somatic mutations

Genomic Coordinates (GRCh37/hg19) Reference Variant Exon Amino Acid change Coding DNA change COSMIC (v92) Classification No. of Samples
chr21:36252877 C T 2 / 6 p.R135K c.404G>A COSV55868310 Tier2 1 / 40
chr21:36231774 G A 3 / 6 p.R177* c.529C>T COSV55866185 Tier2 1 / 40
chr21:36231775 AG A 3 / 6 p.P176fs c.527delC   Tier2 1 / 40
chr21:36231783 G A 3 / 6 p.R174* c.520C>T COSV55866784 Tier1 1 / 40
chr21:36206717 ACT A 4 / 6 p.Q239fs c.712_713delAG COSV99038741 Tier2 1 / 40
chr21:36171622 CAG C 5 / 6 p.S287fs c.860_861delCT COSV55866573 Tier2 1 / 40
chr21:36171708 T TGGTA 5 / 6 p.Q259fs c.772_775dupTACC   Tier2 1 / 40
chr21:36171708 T TGGTAG 5 / 6 p.Q259fs c.771_775dupCTACC   Tier2 1 / 40