Basic Information

Symbol
RUNX1T1
RNA class
mRNA
Alias
RUNX1 Partner Transcriptional Co-Repressor 1 ZMYND2 MTG8 CDR ETO CBFA2T1 AML1T1 Core-Binding Factor, Runt Domain, Alpha Subunit 2; Translocated To, 1; Cyclin D-Related Runt Related Transcription Factor 1; Translocated To, 1 (Cyclin D Related) Zinc Finger MYND Domain-Containing Protein 2 RUNX1 Translocation Partner 1 Eight Twenty One Protein Protein CBFA2T1 Acute Myelogenous Leukemia 1 Translocation 1, Cyclin-D Related Myeloid Translocation Gene On 8q22 Cyclin-D-Related Protein Protein MTG8 Protein ETO AML1-MTG8
Location (GRCh38)
8:91954972-92103385
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Other applications
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_175634.3
Sequence length
7699.0 nt
GC content
0.4408

Transcripts

ID Sequence Length GC content
NM_001198679.3 NCBI
GUCUUCUCUCUCUCUCUCCCACUUUUCCUCCCUCUCCCGCUCCGUCUCA… 7428 nt 0.4281
NM_001395209.1 NCBI
GAUGCGGGCGCUCUCGGCGCACAGCGCGCGGCGCUCCUGCUCCCCGGCG… 7670 nt 0.4426
NM_004349.4 NCBI
AUUCCAGAACAGGAGGCAUGAGCCCGGAACGCGCUUGCUUUUAGGAGAC… 7086 nt 0.4229
NM_175634.3 NCBI
GAUGCGGGCGCUCUCGGCGCACAGCGCGCGGCGCUCCUGCUCCCCGGCG… 7699 nt 0.4408
NM_175635.3 NCBI
AGAAGUCGAUAAGACCAGGAGAAGUGAAGAUGUAACAUGUUAUCUGUCG… 7200 nt 0.4231
NM_175636.2 NCBI
UGCUAACAUUGGCUUCAGCUUCCAGUGCAGUUGUGCUGCUGCAUAUAAC… 7319 nt 0.4195
Showing 11 to 16 of 16 entries
Summary

This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

Forensic Context

A study in human menstrual blood-derived stem cells (MenSCs) demonstrated that the RUNX1T1 was identified as a differentially-expressed gene down-regulated with increasing passage number [Chen et al. DOI:PMC4713568]. In a separate review of RNA sequencing technologies, the RUNX1–RUNX1T1 fusion gene is noted for its diagnostic use in acute myeloid leukemia [Li et al. DOI:10.1038/s41368-021-00146-0].