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RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))

Written1997-11Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Updated1997-12Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Updated2003-01Jean-Loup Huret, Sylvie Senon
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namesAML1
CBFA2
acute myeloid leukemia 1
runt-related transcription factor 1
runt related transcription factor 1
Alias_symbol (synonym)PEBP2A2
AMLCR1
Other aliasAML1 (acute myeloid leukemia 1)
CBFA2 (core binding factor A2)
PEBPaB (polyomavirus enhancer binding protein aB)
HGNC (Hugo) RUNX1
LocusID (NCBI) 861
Atlas_Id 52
Location 21q22.12  [Link to chromosome band 21q22]
Location_base_pair Starts at 34787801 and ends at 35049298 bp from pter ( according to hg19-Feb_2009)  [Mapping RUNX1.png]
 
  AML1 (21q22.3) in normal cells: clone dJ1107L6 - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
 
  RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene) Hybridization with SureFISH RUNX1 break apart probe (Agilent Technologies, Australia) showing the RUNX1 gene on 21q22.12 (red-green or a fused yellow signal) - Courtesy Adriana Zamecnikova.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ACKR2 (3p22.1) / RUNX1 (21q22.12)AFF3 (2q11.2) / RUNX1 (21q22.12)AKAP9 (7q21.2) / RUNX1 (21q22.12)
BRINP3 (1q31.1) / RUNX1 (21q22)CBFA2T3 (16q24.3) / RUNX1 (21q22.12)CHD1 (5q15) / RUNX1 (21q22.12)
DGKG (3q27.2) / RUNX1 (21q22.12)DPP10 (2q14.1) / RUNX1 (21q22.12)DYRK1A (21q22.13) / RUNX1 (21q22.12)
ETV6 (12p13.2) / RUNX1 (21q22.12)FBXO42 (1p36.13) / RUNX1 (21q22.12)FGA (4q31.3) / RUNX1 (21q22.12)
FUS (16p11.2) / RUNX1 (21q22.12)GSN (9q33.2) / RUNX1 (21q22.12)IFNGR2 (21q22.11) / RUNX1 (21q22.12)
LPXN (11q12.1) / RUNX1 (21q22.12)MACROD1 (11q13.1) / RUNX1 (21q22.12)MECOM (3q26.2) / RUNX1 (21q22.12)
NDST2 (10q22.2) / RUNX1 (21q22.12)PRDX4 (Xp22.11) / RUNX1 (21q22.12)RCAN1 (21q22.12) / RUNX1 (21q22.12)
RPL22 (1p36.31) / RUNX1 (21q22.12)RUNX1 (21q22.12) / ADAMTS19 (5q23.3)RUNX1 (21q22.12) / AFF3 (2q11.2)
RUNX1 (21q22.12) / BMPR1B (4q22.3)RUNX1 (21q22.12) / CBFA2T2 (20q11.21)RUNX1 (21q22.12) / CBFA2T3 (16q24.3)
RUNX1 (21q22.12) / CDR1 (Xq27.1)RUNX1 (21q22.12) / CEP76 (18p11.21)RUNX1 (21q22.12) / CLCA2 (1p22.3)
RUNX1 (21q22.12) / CPNE8 (12q12)RUNX1 (21q22.12) / DDX47 (12p13.1)RUNX1 (21q22.12) / DSCAM (21q22.2)
RUNX1 (21q22.12) / DYRK1A (21q22.13)RUNX1 (21q22.12) / ETV6 (12p13.2)RUNX1 (21q22.12) / EVX1 (7p15.2)
RUNX1 (21q22.12) / FAM117A (17q21.33)RUNX1 (21q22.12) / FBXW7 (4q31.3)RUNX1 (21q22.12) / GRM7 (3p26.1)
RUNX1 (21q22.12) / KCNMA1 (10q22.3)RUNX1 (21q22.12) / KIAA1549L (11p13)RUNX1 (21q22.12) / KRR1 (12q21.2)
RUNX1 (21q22.12) / LDLRAD4 (18p11.21)RUNX1 (21q22.12) / LIPA (10q23.31)RUNX1 (21q22.12) / LPXN (11q12.1)
RUNX1 (21q22.12) / MACROD1 (11q13.1)RUNX1 (21q22.12) / MECOM (3q26.2)RUNX1 (21q22.12) / MLYCD (16q23.3)
RUNX1 (21q22.12) / NDC1 (1p32.3)RUNX1 (21q22.12) / NLGN4Y (Yq11.221)RUNX1 (21q22.12) / NLRP2 (19q13.42)
RUNX1 (21q22.12) / NLRP4 (19q13.43)RUNX1 (21q22.12) / NOL4L (20q11.21)RUNX1 (21q22.12) / PDZD7 (10q24.31)
RUNX1 (21q22.12) / PRDM16 (1p36.32)RUNX1 (21q22.12) / PRDX4 (Xp22.11)RUNX1 (21q22.12) / PRRC1 (5q23.2)
RUNX1 (21q22.12) / PTHLH (12p11.22)RUNX1 (21q22.12) / RPL22 (1p36.31)RUNX1 (21q22.12) / RUNX1 (21q22.12)
RUNX1 (21q22.12) / RUNX1T1 (8q21.3)RUNX1 (21q22.12) / SH3D19 (4q31.3)RUNX1 (21q22.12) / SIN3A (15q24.2)
RUNX1 (21q22.12) / SNX29P2 (16p11.2)RUNX1 (21q22.12) / SUMO2P13 (6p22.3)RUNX1 (21q22.12) / SV2B (15q26.1)
RUNX1 (21q22.12) / TARDBP (1p36.22)RUNX1 (21q22.12) / TCF12 (15q21.3)RUNX1 (21q22.12) / TRPS1 (8q23.3)
RUNX1 (21q22.12) / TSPEAR (21q22.3)RUNX1 (21q22.12) / UBL7 (15q24.1)RUNX1 (21q22.12) / UGGT2 (13q32.1)
RUNX1 (21q22.12) / USP25 (21q21.1)RUNX1 (21q22.12) / USP42 (7p22.1)RUNX1 (21q22.12) / VAV1 (19p13.3)
RUNX1 (21q22.12) / YTHDF2 (1p35.3)RUNX1 (21q22.12) / ZADH2 (18q22.3)RUNX1 (21q22.12) / ZFPM2 (8q23.1)
RUNX1 (21q22.12) / ZNF687 (1q21.3)RUNX1T1 (8q21.3) / RUNX1 (21q22.12)TVP23C (17p12) / RUNX1 (21q22)
USP16 (21q21.3) / RUNX1 (21q22.12)USP42 (7p22.1) / RUNX1 (21q22.12)YTHDF2 (1p35.3) / RUNX1 (21q22.12)
ZNF687 (1q21.3) / RUNX1 (21q22.12)

DNA/RNA

 
  DNA Diagram
Description the gene spans a region of more than 120 kb
Transcription transcription is from telomere to centromere --> the fusion gene is located on the 'other' chromosome (eg the der(8) of the t(8;21), the der(3) of the t(3;21)...); alternate splicing --> transcripts of 2, 3.3, ->7.5 and 8 kb

Protein

 
  Protein Diagram
Description 250, 453 amino acids and other forms; forms heterodimers with CBFB
Expression widely expressed, including hematopoietic cells at various stages of differenciation: role in haematopoiesis
Localisation nuclear
Function transcription factor (activator) for various hematopoietic-specific genes: binds to the core site 5' PyGPyGGTPy 3' of a number of promotors and enhancers, as in GM-CSF (granulocyte-macrophage colony stimulating factor), CSF1R (colony stimulating factor 1 receptor), TCRb sites (T cell antigen receptors), and myeloid myeloperoxidase
Homology 1- Runt (drosophila): nuclear DNA binding protein; role in segmentation (embryology); 2- AML2 (also called: CBFA3, CBFa3, PEBPaC), located in 1p35-36, expressed in B lineage (3 and 5 kb RNA); AML3: (also called: CBFA1, CBFa1, PEBPaA) in 6p21; 3- cbfa family (mouse)

Implicated in

Note
  
Entity Familial platelet disorder with predisposition to acute non lymphocytic leukemia
  
  
Entity t(1;21)(p36;q22) treatment related acute non lymphocytic leukemia (AML) --> ?/ RUNX1
  
  
Entity t(2;21)(p11;q22) AML --> ?/ RUNX1
  
  
Entity t(3;21)(q26;q22)/ myelodysplastic syndrome (MDS) or AML --> EVI1 or EAP/ MDS1 - RUNX1
Disease CML-BC of myeloid type; AML and MDS, often therapy related (secondary to antitopoisomerase II)
Hybrid/Mutated Gene 5' AML1 - 3' EAP or MDS1 or EVI1
  
  
Entity t(4;21)(q31;q22) T-cell acute lymphoblastic leukemia (T-ALL) --> ?/ RUNX1
  
  
Entity t(5;21)(q13;q22) myelodysplastic syndrome (MDS) and AML --> ?/ RUNX1
  
  
Entity t(8;21)(q22;q22)/AML. --> ETO - RUNX1
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
  
  
Entity t(8;21)(q23;q22) MDS --> FOG2 / RUNX1
  
  
Entity t(8;21)(q24;q22) ALL and AML --> TRPS1 / RUNX1
  
  
Entity t(12;21)(p13;q22)/ALL --> ETV6- RUNX1
Disease B cell ALL (CD10+)
Prognosis CR in all cases; prognosis seems good
Cytogenetics often undetectable without FISH; additional anomalies: frequent del(12)(p12) on the other allele
Hybrid/Mutated Gene 5' ETV6 - 3' AML1on the der(21)
Abnormal Protein Helix loop helix of TEL fused to the nearly entire AML1 protein; the other TEL allele is often deleted
  
  
Entity t(12;21)(q24;q22) AML --> ?/ RUNX1
  
  
Entity t(16;21)(q24;q22) AML --> MTG16- RUNX1
Disease AML and therapy related AML; mainly with preceeding MDS
Prognosis very poor
  
  
Entity t(17;21)(q11;q22) RUNX1
  
  
Entity t(19;21)(q13;q22) treatment related AML --> AMP19 / RUNX1
  
  
Entity t(20;21)(q1;3q22) treatment related ANL --> ? / RUNX1
  
  
Entity t(21;21)(q11;q22) MDS --> UPS25 / RUNX1
  

Breakpoints

 

Bibliography

AML1-TRPS1 chimeric protein is generated by t(8;21)(q24;q22) in relapsing acute myeloblastic leukemia.
Asou N, Matsuno N, Mitsuya H
Am Soc Hematol,. 1943.
 
A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies.
Buijs A, Poddighe P, van Wijk R, van Solinge W, Borst E, Verdonck L, Hagenbeek A, Pearson P, Lokhorst H
Blood. 2001 ; 98 (9) : 2856-2858.
PMID 11675361
 
A new angle on a pervasive oncogene.
Cleary ML
Nature genetics. 1999 ; 23 (2) : 134-135.
PMID 10508502
 
A novel syndrome of radiation-associated acute myeloid leukemia involving AML1 gene translocations.
Hromas R, Shopnick R, Jumean HG, Bowers C, Varella-Garcia M, Richkind K
Blood. 2000 ; 95 (12) : 4011-4013.
PMID 10845943
 
Combined spectral karyotyping and DAPI banding analysis of chromosome abnormalities in myelodysplastic syndrome.
Kakazu N, Taniwaki M, Horiike S, Nishida K, Tatekawa T, Nagai M, Takahashi T, Akaogi T, Inazawa J, Ohki M, Abe T
Genes, chromosomes & cancer. 1999 ; 26 (4) : 336-345.
PMID 10534769
 
Concurrent translocations of MLL and CBFA2 (AML1) genes with new partner breakpoints in a child with secondary myelodysplastic syndrome after treatment of acute lymphoblastic leukemia.
Mathew S, Head D, Rubnitz JE, Raimondi SC
Genes, chromosomes & cancer. 2000 ; 28 (2) : 227-232.
PMID 10825008
 
Novel cryptic, complex rearrangements involving ETV6-CBFA2 (TEL-AML1) genes identified by fluorescence in situ hybridization in pediatric patients with acute lymphoblastic leukemia.
Mathew S, Shurtleff SA, Raimondi SC
Genes, chromosomes & cancer. 2001 ; 32 (2) : 188-193.
PMID 11550288
 
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.
Michaud J, Wu F, Osato M, Cottles GM, Yanagida M, Asou N, Shigesada K, Ito Y, Benson KF, Raskind WH, Rossier C, Antonarakis SE, Israels S, McNicol A, Weiss H, Horwitz M, Scott HS
Blood. 2002 ; 99 (4) : 1364-1372.
PMID 11830488
 
A new translocation that rearranges the AML1 gene in a patient with T-cell acute lymphoblastic leukemia.
Mikhail FM, Serry KA, Hatem N, Mourad ZI, Farawela HM, El Kaffash DM, Coignet L, Nucifora G
Cancer genetics and cytogenetics. 2002 ; 135 (1) : 96-100.
PMID 12072207
 
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
 
Identification of two new translocations that disrupt the AML1 gene.
Richkind K, Hromas R, Lytle C, Crenshaw D, Velasco J, Roherty S, Srinivasiah J, Varella-Garcia M
Cancer genetics and cytogenetics. 2000 ; 122 (2) : 141-143.
PMID 11106827
 
High frequency of t(12;21) in childhood B-lineage acute lymphoblastic leukemia.
Romana SP, Poirel H, Leconiat M, Flexor MA, Mauchauffé M, Jonveaux P, Macintyre EA, Berger R, Bernard OA
Blood. 1995 ; 86 (11) : 4263-4269.
PMID 7492786
 
High frequency of t(12;21) in childhood B-lineage acute lymphoblastic leukemia.
Romana SP, et al.
Blood. 1995 Dec 1;86(11):4263-9.
PMID 7492786
 
CBFA2(AML1) translocations with novel partner chromosomes in myeloid leukemias: association with prior therapy.
Roulston D, Espinosa R 3rd, Nucifora G, Larson RA, Le Beau MM, Rowley JD
Blood. 1998 ; 92 (8) : 2879-2885.
PMID 9763573
 
Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.
Song WJ, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D, Ratajczak J, Resende IC, Haworth C, Hock R, Loh M, Felix C, Roy DC, Busque L, Kurnit D, Willman C, Gewirtz AM, Speck NA, Bushweller JH, Li FP, Gardiner K, Poncz M, Maris JM, Gilliland DG.
Nat Genet. 1999;23:134-135.
 

Citation

This paper should be referenced as such :
Huret, JL ; Senon, S
AML1 (acute myeloid leukemia 1) - RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene)) - CBFA2 (core binding factor A2)
Atlas Genet Cytogenet Oncol Haematol. 2003;7(2):84-87.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/AML1ID52.html
History of this paper:
Huret, JL. AML1 (acute myeloid leukemia 1). Atlas Genet Cytogenet Oncol Haematol. 1997;1(2):59-61.
http://documents.irevues.inist.fr/bitstream/handle/2042/32051/12-1997-AML1ID52.pdf
Huret, JL ; Senon, S. AML1 (acute myeloid leukemia 1) - RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene)) - CBFA2 (core binding factor A2). Atlas Genet Cytogenet Oncol Haematol. 2003;7(2):84-87.
http://documents.irevues.inist.fr/bitstream/handle/2042/37948/01-2003-AML1.pdf


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 70 ]
  21q22 rearrangements (RUNX1) in treatment related leukemia
del(21)(q21q22) USP16/RUNX1
dup(21q) amplified (RUNX1)
Pediatric T-Cell Acute Lymphoblastic Leukemia
t(1;21)(p36;q22) RUNX1/PRDM16
t(1;21)(p22;q22) RUNX1/CLCA2
t(1;21)(p32;q22) RUNX1/?
t(1;21)(p35;q22) RUNX1/YTHDF2
t(1;21)(q12;q22) RUNX1/?
t(1;21)(q21;q22) RUNX1/ZNF687
t(2;21)(p11;q22) RUNX1/?
t(2;21)(q11;q22)
t(3;21)(q26;q22) RUNX1/MECOM
t(3;21)(p12;q22) RUNX1/?
t(3;21)(q26;q22) RUNX1/MECOM in treatment related leukemia
t(4;21)(q31;q22) RUNX1/?
t(4;21)(q31;q22) RUNX1/SH3D19
t(4;21)(q35;q22) RUNX1/?
t(5;21)(q13;q22) RUNX1/?
t(6;21)(p22;q22) RUNX1-?
t(7;21)(p15;q22) RUNX1/?
t(7;21)(p22;q22) RUNX1/USP42
t(8;21)(q22;q22) RUNX1/RUNX1T1
t(8;21)(q22;q22) RUNX1/RUNX1T1 in treatment related leukemia
t(8;21)(q23;q22) RUNX1/ZFPM2
t(8;21)(q24;q22) RUNX1/TRPS1
t(X;21)(p11;q22) RUNX1/?
t(11;21)(p14;q22) RUNX1/KIAA1549L
t(11;21)(q13;q22) RUNX1/MACROD1
t(11;21)(q21;q22) RUNX1/LPXN
t(12;21)(p13;q22) ETV6/RUNX1
t(12;21)(q12;q22) RUNX1 truncated
t(12;21)(q24;q22) RUNX1/?
t(14;21)(q22;q22) RUNX1/?
t(15;21)(q22;q22) RUNX1/?
t(16;21)(q24;q22) RUNX1/CBFA2T3
t(17;21)(q11.2;q22) RUNX1/?
t(18;21)(q21;q22) RUNX1/?
t(19;21)(q13.4;q22) RUNX1 truncated
t(20;21)(q11;q22) RUNX1/NOL4L
t(20;21)(q13;q22) RUNX1/?
t(20;21)(q13.2;q22.12) ZFP64/RUNX1
ins(21;20)(q22;q11q11) RUNX1/CBFA2T2
t(1;21)(p32;q22) RUNX1/NDC1
t(2;21)(q11;q22) RUNX1/AFF3
t(3;21)(q26;q22) RUNX1/RPL22P1
t(5;21)(q21;q22) CHD1/RUNX1
t(5;21)(q23;q22) RUNX1/ADAMTS19
t(5;21)(q23;q22) RUNX1/PRRC1
t(6;21)(p22;q22) RUNX1/SUMO2P13
t(7;21)(p15;q22) RUNX1/EVX1
t(10;21)(q22;q22) NDST2/RUNX1
t(10;21)(q22;q22) RUNX1/KCNMA1
t(10;21)(q23;q22) RUNX1/LIPA
t(10;21)(q24;q22) RUNX1/PDZD7
t(12;21)(p11;q22) RUNX1/PTHLH
t(12;21)(p13;q22) RUNX1/DDX47
t(12;21)(q12;q22) RUNX1/CPNE8
t(12;21)(q21;q22) RUNX1/KRR1
t(13;21)(q32;q22) RUNX1/UGGT2
t(15;21)(q21;q22) RUNX1/TCF12
t(15;21)(q24;q22) RUNX1/SIN3A
t(15;21)(q24;q22) RUNX1/UBL7
t(15;21)(q26;q22) RUNX1/SV2B
t(16;21)(q23;q22) RUNX1/MLYCD
t(17;21)(q21;q22) RUNX1/FAM117A
t(18;21)(q22;q22) RUNX1/ZADH2
t(21;21)(q22;q22) RUNX1/DSCAM
t(21;21)(q22;q22) RUNX1/DYRK1A
t(X;21)(p22;q22) RUNX1/PRDX4


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 5 ]
  t(1;21)(p36;q22) FBXO42/RUNX1
t(7;21)(q21;q22) AKAP9/RUNX1
t(18;21)(p11;q22) RUNX1/CEP76
DYRK1A/RUNX1 (21q22)
RCAN1/RUNX1 (21q22)


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 2 ]
  Familial Myeloproliferative Disorders Familial platelet disorder with predisposition to acute myelogenous leukemia


External links

Nomenclature
HGNC (Hugo)RUNX1   10471
LRG (Locus Reference Genomic)LRG_482
Cards
AtlasAML1ID52
Entrez_Gene (NCBI)RUNX1  861  RUNX family transcription factor 1
AliasesAML1; AML1-EVI-1; AMLCR1; CBF2alpha; 
CBFA2; EVI-1; PEBP2aB; PEBP2alpha
GeneCards (Weizmann)RUNX1
Ensembl hg19 (Hinxton)ENSG00000159216 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000159216 [Gene_View]  ENSG00000159216 [Sequence]  chr21:34787801-35049298 [Contig_View]  RUNX1 [Vega]
ICGC DataPortalENSG00000159216
TCGA cBioPortalRUNX1
AceView (NCBI)RUNX1
Genatlas (Paris)RUNX1
WikiGenes861
SOURCE (Princeton)RUNX1
Genetics Home Reference (NIH)RUNX1
Genomic and cartography
GoldenPath hg38 (UCSC)RUNX1  -     chr21:34787801-35049298 -  21q22.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RUNX1  -     21q22.12   [Description]    (hg19-Feb_2009)
GoldenPathRUNX1 - 21q22.12 [CytoView hg19]  RUNX1 - 21q22.12 [CytoView hg38]
ImmunoBaseENSG00000159216
Mapping of homologs : NCBIRUNX1 [Mapview hg19]  RUNX1 [Mapview hg38]
OMIM151385   601399   601626   
Gene and transcription
Genbank (Entrez)AA878154 AK226159 AK310587 AK310646 AL581043
RefSeq transcript (Entrez)NM_001001890 NM_001122607 NM_001754
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RUNX1
Cluster EST : UnigeneHs.705364 [ NCBI ]
CGAP (NCI)Hs.705364
Alternative Splicing GalleryENSG00000159216
Gene ExpressionRUNX1 [ NCBI-GEO ]   RUNX1 [ EBI - ARRAY_EXPRESS ]   RUNX1 [ SEEK ]   RUNX1 [ MEM ]
Gene Expression Viewer (FireBrowse)RUNX1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)861
GTEX Portal (Tissue expression)RUNX1
Human Protein AtlasENSG00000159216-RUNX1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ01196   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ01196  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ01196
Splice isoforms : SwissVarQ01196
PhosPhoSitePlusQ01196
Domaine pattern : Prosite (Expaxy)RUNT (PS51062)   
Domains : Interpro (EBI)AML1_Runt    p53-like_TF_DNA-bd    p53/RUNT-type_TF_DNA-bd_sf    Runt_dom    Runx_central_dom_sf    RunxI_C_dom    TF_Runt-rel_RUNX   
Domain families : Pfam (Sanger)Runt (PF00853)    RunxI (PF08504)   
Domain families : Pfam (NCBI)pfam00853    pfam08504   
Conserved Domain (NCBI)RUNX1
DMDM Disease mutations861
Blocks (Seattle)RUNX1
PDB (RSDB)1CMO    1CO1    1E50    1H9D    1LJM   
PDB Europe1CMO    1CO1    1E50    1H9D    1LJM   
PDB (PDBSum)1CMO    1CO1    1E50    1H9D    1LJM   
PDB (IMB)1CMO    1CO1    1E50    1H9D    1LJM   
Structural Biology KnowledgeBase1CMO    1CO1    1E50    1H9D    1LJM   
SCOP (Structural Classification of Proteins)1CMO    1CO1    1E50    1H9D    1LJM   
CATH (Classification of proteins structures)1CMO    1CO1    1E50    1H9D    1LJM   
SuperfamilyQ01196
Human Protein Atlas [tissue]ENSG00000159216-RUNX1 [tissue]
Peptide AtlasQ01196
HPRD01043
IPIIPI00477787   IPI00218529   IPI00218530   IPI00218936   IPI00936936   IPI00797455   IPI00952824   IPI00939238   IPI00218943   IPI00941683   IPI00871743   IPI00218942   IPI01018795   IPI00816187   IPI00413370   IPI00791456   IPI00794722   
Protein Interaction databases
DIP (DOE-UCLA)Q01196
IntAct (EBI)Q01196
FunCoupENSG00000159216
BioGRIDRUNX1
STRING (EMBL)RUNX1
ZODIACRUNX1
Ontologies - Pathways
QuickGOQ01196
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II proximal promoter sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  regulation of cytokine-mediated signaling pathway  protein binding  ATP binding  nucleus  nucleus  nucleoplasm  nucleoplasm  cytosol  negative regulation of gene expression  core-binding factor complex  hemopoiesis  hemopoiesis  regulation of Wnt signaling pathway  neuron differentiation  positive regulation of granulocyte differentiation  positive regulation of interleukin-2 production  regulation of intracellular estrogen receptor signaling pathway  intracellular membrane-bounded organelle  negative regulation of CD4-positive, alpha-beta T cell differentiation  positive regulation of CD8-positive, alpha-beta T cell differentiation  transcription regulatory region DNA binding  regulation of regulatory T cell differentiation  regulation of keratinocyte differentiation  regulation of myeloid cell differentiation  regulation of megakaryocyte differentiation  positive regulation of angiogenesis  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  peripheral nervous system neuron development  regulation of B cell receptor signaling pathway  hematopoietic stem cell proliferation  regulation of hematopoietic stem cell differentiation  regulation of bicellular tight junction assembly  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II proximal promoter sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  regulation of cytokine-mediated signaling pathway  protein binding  ATP binding  nucleus  nucleus  nucleoplasm  nucleoplasm  cytosol  negative regulation of gene expression  core-binding factor complex  hemopoiesis  hemopoiesis  regulation of Wnt signaling pathway  neuron differentiation  positive regulation of granulocyte differentiation  positive regulation of interleukin-2 production  regulation of intracellular estrogen receptor signaling pathway  intracellular membrane-bounded organelle  negative regulation of CD4-positive, alpha-beta T cell differentiation  positive regulation of CD8-positive, alpha-beta T cell differentiation  transcription regulatory region DNA binding  regulation of regulatory T cell differentiation  regulation of keratinocyte differentiation  regulation of myeloid cell differentiation  regulation of megakaryocyte differentiation  positive regulation of angiogenesis  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  peripheral nervous system neuron development  regulation of B cell receptor signaling pathway  hematopoietic stem cell proliferation  regulation of hematopoietic stem cell differentiation  regulation of bicellular tight junction assembly  
Pathways : KEGGPathways in cancer    Transcriptional misregulation in cancer    Chronic myeloid leukemia    Acute myeloid leukemia   
REACTOMEQ01196 [protein]
REACTOME PathwaysR-HSA-9018519 [pathway]   
NDEx NetworkRUNX1
Atlas of Cancer Signalling NetworkRUNX1
Wikipedia pathwaysRUNX1
Orthology - Evolution
OrthoDB861
GeneTree (enSembl)ENSG00000159216
Phylogenetic Trees/Animal Genes : TreeFamRUNX1
HOGENOMQ01196
Homologs : HomoloGeneRUNX1
Homology/Alignments : Family Browser (UCSC)RUNX1
Gene fusions - Rearrangements
Fusion : MitelmanAKAP9/RUNX1 [7q21.2/21q22.12]  [t(7;21)(q21;q22)]  
Fusion : MitelmanDYRK1A/RUNX1 [21q22.13/21q22.12]  [t(21;21)(q22;q22)]  
Fusion : MitelmanETV6/RUNX1 [12p13.2/21q22.12]  [+der(21)t(12;21)(p13;q22)]  [del(12)(p13p13)]  
[ins(12;21)(p13;q22q22)]  [t(11;12;21)(q14;p13;q22)]  [t(12;21)(p13;q22)]  
[t(2;12;21)(q33;p13;q22)]  
Fusion : MitelmanFBXO42/RUNX1 [1p36.13/21q22.12]  [t(1;21)(p36;q22)]  
Fusion : MitelmanNDST2/RUNX1 [10q22.2/21q22.12]  [t(10;21)(q22;q22)]  
Fusion : MitelmanRCAN1/RUNX1 [21q22.12/21q22.12]  [t(21;21)(q22;q22)]  
Fusion : MitelmanRUNX1/- [21q22.12/t(4;21)(q28;q22)]  
Fusion : MitelmanRUNX1/ADAMTS19 [21q22.12/5q23.3]  [t(5;21)(q23;q22)]  
Fusion : MitelmanRUNX1/AFF3 [21q22.12/2q11.2]  [t(2;21)(q11;q22)]  
Fusion : MitelmanRUNX1/CBFA2T2 [21q22.12/20q11.21]  [ins(21;20)(q22;q11q11)]  
Fusion : MitelmanRUNX1/CBFA2T3 [21q22.12/16q24.3]  [t(16;21)(q24;q22)]  
Fusion : MitelmanRUNX1/CEP76 [21q22.12/18p11.21]  [t(18;21)(p11;q22)]  
Fusion : MitelmanRUNX1/CLCA2 [21q22.12/1p22.3]  [t(1;21)(p22;q22)]  
Fusion : MitelmanRUNX1/CPNE8 [21q22.12/12q12]  [t(12;21)(q12;q22)]  
Fusion : MitelmanRUNX1/EVX1 [21q22.12/7p15.2]  [t(7;21)(p15;q22)]  
Fusion : MitelmanRUNX1/KCNMA1 [21q22.12/10q22.3]  [t(10;21)(q22;q22)]  
Fusion : MitelmanRUNX1/KIAA1549L [21q22.12/11p13]  [t(11;21)(p13;q22)]  
Fusion : MitelmanRUNX1/LPXN [21q22.12/11q12.1]  [t(11;21)(q12;q22)]  
Fusion : MitelmanRUNX1/MACROD1 [21q22.12/11q13.1]  [t(11;21)(q13;q22)]  
Fusion : MitelmanRUNX1/MECOM [21q22.12/3q26.2]  [t(3;21)(q26;q22)]  
Fusion : MitelmanRUNX1/NOL4L [21q22.12/20q11.21]  [t(20;21)(q11;q22)]  
Fusion : MitelmanRUNX1/PRDM16 [21q22.12/1p36.32]  [t(1;21)(p36;q22)]  
Fusion : MitelmanRUNX1/PRDX4 [21q22.12/Xp22.11]  [t(X;21)(p22;q22)]  
Fusion : MitelmanRUNX1/PRRC1 [21q22.12/5q23.2]  [t(5;21)(q23;q22)]  
Fusion : MitelmanRUNX1/RPL22P1 [21q22.12/-]  [t(3;21)(q26;q22)]  
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 : MitelmanRUNX1/SH3D19 [21q22.12/4q31.3]  [t(4;21)(q31;q22)]  
Fusion : MitelmanRUNX1/SV2B [21q22.12/15q26.1]  [t(15;21)(q26;q22)]  
Fusion : MitelmanRUNX1/TRPS1 [21q22.12/8q23.3]  [t(8;21)(q23;q22)]  
Fusion : MitelmanRUNX1/USP42 [21q22.12/7p22.1]  [t(7;21)(p22;q22)]  
Fusion : MitelmanRUNX1/YTHDF2 [21q22.12/1p35.3]  [t(1;21)(p35;q22)]  
Fusion : MitelmanRUNX1/ZFPM2 [21q22.12/8q23.1]  [t(X;8;21)(p22;q23;q22)]  
Fusion : MitelmanRUNX1/ZNF687 [21q22.12/1q21.3]  [t(1;21)(q21;q22)]  
Fusion : MitelmanUSP16/RUNX1 [21q21.3/21q22.12]  [del(21)(q21q22)]  
Fusion : COSMICRUNX1 [21q22.12]  -  RUNX1T1 [8q21.3]  [fusion_2377]  [fusion_2379]  [fusion_2380]  [fusion_2381]  [fusion_2382]  [fusion_2383]  [fusion_2384]  
[fusion_2385]  [fusion_2386]  [fusion_2387]  [fusion_2388]  [fusion_2389]  [fusion_2390]  [fusion_2391]  [fusion_2392]  [fusion_2393]  [fusion_2394]  
[fusion_2395]  [fusion_2396]  [fusion_2397]  [fusion_2398]  
Fusion PortalAKAP9 7q21.2 RUNX1 21q22.12 BRCA
Fusion PortalDYRK1A 21q22.13 RUNX1 21q22.12 HNSC
Fusion PortalFBXO42 1p36.13 RUNX1 21q22.12 BRCA
Fusion PortalRCAN1 21q22.12 RUNX1 21q22.12 BRCA
Fusion PortalRUNX1 21q22.12 CEP76 18p11.21 LUAD
Fusion PortalRUNX1 21q22.12 MECOM 3q26.2 LAML
Fusion PortalRUNX1 21q22.12 RUNX1T1 8q21.3 LAML
Fusion : TICdbETV6 [12p13.2]  -  RUNX1 [21q22.12]
Fusion : TICdbRUNX1 [21q22.12]  -  AFF3 [2q11.2]
Fusion : TICdbRUNX1 [21q22.12]  -  CBFA2T3 [16q24.3]
Fusion : TICdbRUNX1 [21q22.12]  -  CLCA2 [1p22.3]
Fusion : TICdbRUNX1 [21q22.12]  -  KIAA1549L [11p13]
Fusion : TICdbRUNX1 [21q22.12]  -  LPXN [11q12.1]
Fusion : TICdbRUNX1 [21q22.12]  -  MACROD1 [11q13.1]
Fusion : TICdbRUNX1 [21q22.12]  -  RUNX1T1 [8q21.3]
Fusion : TICdbRUNX1 [21q22.12]  -  SH3D19 [4q31.3]
Fusion : TICdbRUNX1 [21q22.12]  -  TRPS1 [8q23.3]
Fusion : TICdbRUNX1 [21q22.12]  -  USP42 [7p22.1]
Fusion : TICdbRUNX1 [21q22.12]  -  YTHDF2 [1p35.3]
Fusion : TICdbRUNX1 [21q22.12]  -  ZNF687 [1q21.3]
Fusion : FusionGDB10481    10814    12191    13186    1367    14092    15566    30852    32387    32393    32394    32395    32396    32397    32398   
32399    32400    32401    32402    32403    32404    32405    32406    32407    32408    32409    32410    32411    32412    32413   
32414    32415    36501    394    40008    40430    41134    41862    9835   
Fusion : Fusion_HubACKR2--RUNX1    ADAM10--RUNX1    ADAMTS19--RUNX1    AFF3--RUNX1    AKAP9--RUNX1    APOLD1--RUNX1    ASXL1--RUNX1    ATP8A2--RUNX1    B2M--RUNX1    BCL11B--RUNX1    C20ORF112--RUNX1    CBFA2T1--RUNX1    CBFA2T2--RUNX1    CBFA2T3--RUNX1    CCNL1--RUNX1   
CEP76--RUNX1    CHD1--RUNX1    CLCA2--RUNX1    CPNE8--RUNX1    DDX47--RUNX1    DGKG--RUNX1    DPP10--RUNX1    DSCAM--RUNX1    DYRK1A--RUNX1    ERG--RUNX1    ETO--RUNX1    ETV6--RUNX1    EVI1--RUNX1    EVX1--RUNX1    FAM117A--RUNX1   
FARS2--RUNX1    FBXO42--RUNX1    FGA--RUNX1    FGFR1--RUNX1    FUS--RUNX1    GLRX5--RUNX1    GSN--RUNX1    HUNK--RUNX1    KCNMA1--RUNX1    KIAA0247--RUNX1    KIAA1549L--RUNX1    KRR1--RUNX1    LAF4--RUNX1    LDLRAD4--RUNX1    LIPA--RUNX1   
LPXN--RUNX1    MACROD1--RUNX1    MDS1--RUNX1    MECOM--RUNX1    MLYCD--RUNX1    MSH6--RUNX1    MUC7--RUNX1    NDST2--RUNX1    NOL4L--RUNX1    PDZD7--RUNX1    PLXNA2--RUNX1    PRDM16--RUNX1    PRDM7--RUNX1    PRDX4--RUNX1    PRPF38A--RUNX1   
PRRC1--RUNX1    PTHLH--RUNX1    PTPRO--RUNX1    RCAN1--RUNX1    RPL22--RUNX1    RUNX1--7SK.111    RUNX1--ADD1    RUNX1--AFF3    RUNX1--AFTPH    RUNX1--ARHGAP15    RUNX1--ARHGEF7    RUNX1--BMPR1B    RUNX1--C11ORF41    RUNX1--C20ORF112    RUNX1--CBFA2T1   
RUNX1--CBFA2T2    RUNX1--CBFA2T3    RUNX1--CD19    RUNX1--CEP76    RUNX1--CHD1    RUNX1--CLCA2    RUNX1--CLDN14    RUNX1--COL1A1    RUNX1--DTD1    RUNX1--DTX2    RUNX1--DYRK1A    RUNX1--EBP    RUNX1--ETO    RUNX1--ETV1    RUNX1--ETV6   
RUNX1--EVI1    RUNX1--EXOC2    RUNX1--FBXW7    RUNX1--FOG2    RUNX1--GRM7    RUNX1--GSE1    RUNX1--IFNAR1    RUNX1--KIAA1549L    RUNX1--KIF16B    RUNX1--LAF4    RUNX1--LDLRAD4    RUNX1--LPXN    RUNX1--LRP16    RUNX1--LRRC16A    RUNX1--MACROD1   
RUNX1--MECOM    RUNX1--MOZ    RUNX1--MTG16    RUNX1--MTG8    RUNX1--MYH11    RUNX1--NLGN4Y    RUNX1--NLRP4    RUNX1--PRDM16    RUNX1--PROS1    RUNX1--PRPF38A    RUNX1--RP11-302I18.2    RUNX1--RPL22P1    RUNX1--RUNX1    RUNX1--RUNX1T1    RUNX1--SH3D19   
RUNX1--SIN3A    RUNX1--SUMO2P13    RUNX1--SV2B    RUNX1--TARDBP    RUNX1--TCF12    RUNX1--TRPS1    RUNX1--TSPEAR    RUNX1--UBL7-AS1    RUNX1--UGGT2    RUNX1--UPS42    RUNX1--USP16    RUNX1--USP25    RUNX1--USP42    RUNX1--VAV1    RUNX1--YTHDF2   
RUNX1--ZADH2    RUNX1--ZFPM2    RUNX1--ZMAT4    RUNX1--ZNF687    RUNX1T1--RUNX1    STMN4--RUNX1    TEL--RUNX1    TIMP3--RUNX1    TTC7B--RUNX1    U2AF1--RUNX1    USP16--RUNX1    USP42--RUNX1    YTHDF2--RUNX1    ZNF687--RUNX1   
Fusion : QuiverRUNX1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRUNX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RUNX1
dbVarRUNX1
ClinVarRUNX1
1000_GenomesRUNX1 
Exome Variant ServerRUNX1
ExAC (Exome Aggregation Consortium)ENSG00000159216
GNOMAD BrowserENSG00000159216
Varsome BrowserRUNX1
Genetic variants : HAPMAP861
Genomic Variants (DGV)RUNX1 [DGVbeta]
DECIPHERRUNX1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRUNX1 
Mutations
ICGC Data PortalRUNX1 
TCGA Data PortalRUNX1 
Broad Tumor PortalRUNX1
OASIS PortalRUNX1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRUNX1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DRUNX1
Mutations and Diseases : HGMDRUNX1
intOGen PortalRUNX1
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 RUNX1
DgiDB (Drug Gene Interaction Database)RUNX1
DoCM (Curated mutations)RUNX1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RUNX1 (select a term)
intoGenRUNX1
NCG5 (London)RUNX1
Cancer3DRUNX1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM151385    601399    601626   
Orphanet19572    3705    11012    14981    14433   
DisGeNETRUNX1
MedgenRUNX1
Genetic Testing Registry RUNX1
NextProtQ01196 [Medical]
TSGene861
GENETestsRUNX1
Target ValidationRUNX1
Huge Navigator RUNX1 [HugePedia]
snp3D : Map Gene to Disease861
BioCentury BCIQRUNX1
ClinGenRUNX1 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD861
Chemical/Pharm GKB GenePA34884
Drug Sensitivity RUNX1
Clinical trialRUNX1
Miscellaneous
canSAR (ICR)RUNX1 (select the gene name)
DataMed IndexRUNX1
Other databasehttp://cancergenome.broadinstitute.org/index.php?tgene=RUNX1
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRUNX1
EVEXRUNX1
GoPubMedRUNX1
iHOPRUNX1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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