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RUNX1T1 (runt-related transcription factor 1; translocated to, 1 (cyclin D-related))

Written1997-10Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namesAML1T1
CBFA2T1
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)
Alias_symbol (synonym)CDR
ETO
MTG8
ZMYND2
Other aliasETO (eigth twenty one)
CDR (cyclin D related gene),
AML1T1 (AML1 translocated to, 1),
CBFA2T1 (CBFA2 translocated to, 1)
HGNC (Hugo) RUNX1T1
LocusID (NCBI) 862
Atlas_Id 26
Location 8q21.3  [Link to chromosome band 8q21]
Location_base_pair Starts at 91954967 and ends at 92095654 bp from pter ( according to hg19-Feb_2009)  [Mapping RUNX1T1.png]
 
  ETO (8q22) in normal cells: clone dJ1155L8 - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
GAD1 (2q31.1) / RUNX1T1 (8q21.3)KMT2A (11q23.3) / RUNX1T1 (8q21.3)LIMCH1 (4p13) / RUNX1T1 (8q21.3)
MGAT5 (2q21.2) / RUNX1T1 (8q21.3)MVB12B (9q33.3) / RUNX1T1 (8q21.3)RUNX1 (21q22.12) / RUNX1T1 (8q21.3)
RUNX1T1 (8q21.3) / BBX (3q13.12)RUNX1T1 (8q21.3) / KMT2A (11q23.3)RUNX1T1 (8q21.3) / MALAT1 (11q13.1)
RUNX1T1 (8q21.3) / RUNX1 (21q22.12)RUNX1T1 (8q21.3) / RUNX1T1 (8q21.3)RUNX1T1 (8q21.3) / STXBP5 (6q24.3)
RUNX1T1 (8q21.3) / TANC2 (17q23.2)RUNX1T1 (8q21.3) / TRIQK (8q22.1)

DNA/RNA

Transcription from telomere to centromere; alternate slicing at the 5' end -> MTG8A and MTG8B

Protein

 
  Protein Diagram
Description 577 or 604 amino acids ( MTG8A and MTG8B respectively), with a different N-term; 3 proline rich domains (as in transcription factors), 2 of which being also serine and threonine rich (as phosphorylation sites) and 2 Zn fingers (cys.cys/cys.cys and cys.cys/his.cys), a PEST region at the C terminus (conferring rapid intracellular degradation)
Expression mainly in the brain; not in hematopoietic cells (debated)
Localisation nuclear (probable)
Function putative transcription factor
Homology 99% identical to the murine homolog

Implicated in

Note
  
Entity t(8;21)(q24;q22)/AML. --> AML1 - RUNX1T1
Disease AML, M2 mostly
Prognosis CR is obtained; median survival (1.5-2 yrs) is the range with other AML or relatively better
Cytogenetics additional anomalies are frequent: loss of Y or X chromosome, del(7q)/-7, +8, del (9q); complex t(8;21;Var) are known and have revealed that the crucial event lies on der(8); in agrement with the fact that both genes are transcribed from telomere to centromere
Hybrid/Mutated Gene 5' AML1 - 3' ETO
Abnormal Protein N-term AML1 with the Runt domain fused to the nearly entire ETO
Oncogenesis the fusion protein retain the ability to recognize the AML1 concensus binding site (--> negative dominant competitor with the normal AML1) and to dimerize with the cbtb/CBTB subunit --> probable altered transcriptional regulation of normal AML1 target genes
  

Bibliography

AML1 and the 8;21 and 3;21 translocations in acute and chronic myeloid leukemia.
Nucifora G, Rowley JD
Blood. 1995 ; 86 (1) : 1-14.
PMID 7795214
 
Molecular basis of the t(8;21) translocation in acute myeloid leukaemia.
Ohki M
Seminars in cancer biology. 1993 ; 4 (6) : 369-375.
PMID 8142622
 

Citation

This paper should be referenced as such :
Huret, JL
ETO (eigth twenty one)
Atlas Genet Cytogenet Oncol Haematol. 1997;1(2):46-47.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/ETOID26.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 8 ]
  21q22 rearrangements (RUNX1) in treatment related leukemia
Classification of acute myeloid leukemias
i(Xq10) in female patients
r(8)
t(8;21)(q22;q22) RUNX1/RUNX1T1
t(8;21)(q22;q22) RUNX1/RUNX1T1 in treatment related leukemia
t(9;17)(p13;p12) PAX5/NCOR1
t(16;21)(q24;q22) RUNX1/CBFA2T3


External links

Nomenclature
HGNC (Hugo)RUNX1T1   1535
Cards
AtlasETOID26
Entrez_Gene (NCBI)RUNX1T1  862  RUNX1 translocation partner 1
AliasesAML1-MTG8; AML1T1; CBFA2T1; CDR; 
ETO; MTG8; ZMYND2
GeneCards (Weizmann)RUNX1T1
Ensembl hg19 (Hinxton)ENSG00000079102 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000079102 [Gene_View]  chr8:91954967-92095654 [Contig_View]  RUNX1T1 [Vega]
ICGC DataPortalENSG00000079102
TCGA cBioPortalRUNX1T1
AceView (NCBI)RUNX1T1
Genatlas (Paris)RUNX1T1
WikiGenes862
SOURCE (Princeton)RUNX1T1
Genetics Home Reference (NIH)RUNX1T1
Genomic and cartography
GoldenPath hg38 (UCSC)RUNX1T1  -     chr8:91954967-92095654 -  8q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RUNX1T1  -     8q21.3   [Description]    (hg19-Feb_2009)
EnsemblRUNX1T1 - 8q21.3 [CytoView hg19]  RUNX1T1 - 8q21.3 [CytoView hg38]
Mapping of homologs : NCBIRUNX1T1 [Mapview hg19]  RUNX1T1 [Mapview hg38]
OMIM133435   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001198625 NM_001198626 NM_001198627 NM_001198628 NM_001198629 NM_001198630 NM_001198631 NM_001198632 NM_001198633 NM_001198634 NM_001198679 NM_004349 NM_175634 NM_175635 NM_175636
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RUNX1T1
Cluster EST : UnigeneHs.739194 [ NCBI ]
CGAP (NCI)Hs.739194
Alternative Splicing GalleryENSG00000079102
Gene ExpressionRUNX1T1 [ NCBI-GEO ]   RUNX1T1 [ EBI - ARRAY_EXPRESS ]   RUNX1T1 [ SEEK ]   RUNX1T1 [ MEM ]
Gene Expression Viewer (FireBrowse)RUNX1T1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)862
GTEX Portal (Tissue expression)RUNX1T1
Human Protein AtlasENSG00000079102-RUNX1T1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ06455   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ06455  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ06455
Splice isoforms : SwissVarQ06455
PhosPhoSitePlusQ06455
Domaine pattern : Prosite (Expaxy)TAFH (PS51119)    ZF_MYND_1 (PS01360)    ZF_MYND_2 (PS50865)   
Domains : Interpro (EBI)CBFA2T1    CBFA2T1/2/3    NHR2    TAFH_NHR1    Znf_MYND   
Domain families : Pfam (Sanger)NHR2 (PF08788)    TAFH (PF07531)    zf-MYND (PF01753)   
Domain families : Pfam (NCBI)pfam08788    pfam07531    pfam01753   
Domain families : Smart (EMBL)TAFH (SM00549)  
Conserved Domain (NCBI)RUNX1T1
DMDM Disease mutations862
Blocks (Seattle)RUNX1T1
PDB (SRS)1WQ6    2DJ8    2H7B    2KNH    2KYG    2OD1    2ODD    2PP4    4JOL   
PDB (PDBSum)1WQ6    2DJ8    2H7B    2KNH    2KYG    2OD1    2ODD    2PP4    4JOL   
PDB (IMB)1WQ6    2DJ8    2H7B    2KNH    2KYG    2OD1    2ODD    2PP4    4JOL   
PDB (RSDB)1WQ6    2DJ8    2H7B    2KNH    2KYG    2OD1    2ODD    2PP4    4JOL   
Structural Biology KnowledgeBase1WQ6    2DJ8    2H7B    2KNH    2KYG    2OD1    2ODD    2PP4    4JOL   
SCOP (Structural Classification of Proteins)1WQ6    2DJ8    2H7B    2KNH    2KYG    2OD1    2ODD    2PP4    4JOL   
CATH (Classification of proteins structures)1WQ6    2DJ8    2H7B    2KNH    2KYG    2OD1    2ODD    2PP4    4JOL   
SuperfamilyQ06455
Human Protein Atlas [tissue]ENSG00000079102-RUNX1T1 [tissue]
Peptide AtlasQ06455
HPRD00590
IPI###############################################################################################################################################################################################################################################################   
Protein Interaction databases
DIP (DOE-UCLA)Q06455
IntAct (EBI)Q06455
FunCoupENSG00000079102
BioGRIDRUNX1T1
STRING (EMBL)RUNX1T1
ZODIACRUNX1T1
Ontologies - Pathways
QuickGOQ06455
Ontology : AmiGODNA binding  transcription factor activity, sequence-specific DNA binding  transcription corepressor activity  protein binding  nucleoplasm  generation of precursor metabolites and energy  transcription, DNA-templated  nuclear matrix  negative regulation of fat cell differentiation  negative regulation of transcription, DNA-templated  metal ion binding  
Ontology : EGO-EBIDNA binding  transcription factor activity, sequence-specific DNA binding  transcription corepressor activity  protein binding  nucleoplasm  generation of precursor metabolites and energy  transcription, DNA-templated  nuclear matrix  negative regulation of fat cell differentiation  negative regulation of transcription, DNA-templated  metal ion binding  
Pathways : KEGGPathways in cancer    Transcriptional misregulation in cancer    Acute myeloid leukemia   
NDEx NetworkRUNX1T1
Atlas of Cancer Signalling NetworkRUNX1T1
Wikipedia pathwaysRUNX1T1
Orthology - Evolution
OrthoDB862
GeneTree (enSembl)ENSG00000079102
Phylogenetic Trees/Animal Genes : TreeFamRUNX1T1
HOVERGENQ06455
HOGENOMQ06455
Homologs : HomoloGeneRUNX1T1
Homology/Alignments : Family Browser (UCSC)RUNX1T1
Gene fusions - Rearrangements
Fusion : MitelmanRUNX1/RUNX1T1 [21q22.12/8q21.3]  [ins(21;8)(q22;q11q22)]  [ins(21;8)(q22;q12q22)]  
[ins(21;8)(q22;q13q22)]  [ins(21;8)(q22;q21q22)]  [ins(21;8)(q22;q22q22)]  
[ins(8;21)(q22;q22q22)]  [t(8;21)(q22;q22)]  [t(8;21;14)(q22;q22;q24)]  
Fusion: TCGA_MDACCRUNX1 21q22.12 RUNX1T1 8q21.3 LAML
Tumor Fusion PortalRUNX1T1
Fusion : TICdbRUNX1 [21q22.12]  -  RUNX1T1 [8q21.3]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRUNX1T1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RUNX1T1
dbVarRUNX1T1
ClinVarRUNX1T1
1000_GenomesRUNX1T1 
Exome Variant ServerRUNX1T1
ExAC (Exome Aggregation Consortium)ENSG00000079102
GNOMAD BrowserENSG00000079102
Genetic variants : HAPMAP862
Genomic Variants (DGV)RUNX1T1 [DGVbeta]
DECIPHERRUNX1T1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRUNX1T1 
Mutations
ICGC Data PortalRUNX1T1 
TCGA Data PortalRUNX1T1 
Broad Tumor PortalRUNX1T1
OASIS PortalRUNX1T1 [ Somatic mutations - Copy number]
Cancer Gene: CensusRUNX1T1 
Somatic Mutations in Cancer : COSMICRUNX1T1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRUNX1T1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RUNX1T1
DgiDB (Drug Gene Interaction Database)RUNX1T1
DoCM (Curated mutations)RUNX1T1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RUNX1T1 (select a term)
intoGenRUNX1T1
NCG5 (London)RUNX1T1
Cancer3DRUNX1T1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM133435   
Orphanet14981   
DisGeNETRUNX1T1
MedgenRUNX1T1
Genetic Testing Registry RUNX1T1
NextProtQ06455 [Medical]
TSGene862
GENETestsRUNX1T1
Target ValidationRUNX1T1
Huge Navigator RUNX1T1 [HugePedia]
snp3D : Map Gene to Disease862
BioCentury BCIQRUNX1T1
ClinGenRUNX1T1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD862
Chemical/Pharm GKB GenePA26111
Clinical trialRUNX1T1
Miscellaneous
canSAR (ICR)RUNX1T1 (select the gene name)
Probes
Litterature
PubMed147 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRUNX1T1
EVEXRUNX1T1
GoPubMedRUNX1T1
iHOPRUNX1T1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:49:55 CET 2017

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jlhuret@AtlasGeneticsOncology.org.