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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

Other namesAML1
AML1-EVI-1
AMLCR1
CBF2alpha
CBFA2
EVI-1
PEBP2aB
PEBP2alpha
HGNC (Hugo) RUNX1
LocusID (NCBI) 861
Atlas_Id 52
Location 21q22.12
Location_base_pair Starts at 36160098 and ends at 36260987 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  AML1 (21q22.3) in normal cells: clone dJ1107L6 - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Fusion genes
(updated 2016)
ACKR2 (3p22.1) / RUNX1 (21q22.12)AFF3 (2q11.2) / RUNX1 (21q22.12)AKAP9 (7q21.2) / RUNX1 (21q22.12)
CBFA2T3 (16q24.3) / 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)NOL4L20q11.21 () / RUNX1 (21q22.12)
PRDX4 (Xp22.11) / RUNX1 (21q22.12)RCAN1 (21q22.12) / RUNX1 (21q22.12)RPL22 (1p36.31) / RUNX1 (21q22.12)
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) / 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) / LDLRAD4 (18p11.21)
RUNX1 (21q22.12) / LPXN (11q12.1)RUNX1 (21q22.12) / MACROD1 (11q13.1)RUNX1 (21q22.12) / MECOM (3q26.2)
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) / NOL4L20q11.21 ()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) / RPL22P1 ()
RUNX1 (21q22.12) / RUNX1 (21q22.12)RUNX1 (21q22.12) / RUNX1T1 (8q21.3)RUNX1 (21q22.12) / SH3D19 (4q31.3)
RUNX1 (21q22.12) / SV2B (15q26.1)RUNX1 (21q22.12) / TARDBP (1p36.22)RUNX1 (21q22.12) / TRPS1 (8q23.3)
RUNX1 (21q22.12) / TSPEAR (21q22.3)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) / ZFPM2 (8q23.1)RUNX1 (21q22.12) / ZNF687 (1q21.3)RUNX1T1 (8q21.3) / RUNX1 (21q22.12)
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) --> ?/ AML1
  
Entity t(2;21)(p11;q22) AML --> ?/ AML1
  
Entity t(3;21)(q26;q22)/ myelodysplastic syndrome (MDS) or AML --> -EVI1 or EAP/ MDS1 - AML1
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) --> ?/ AML1
  
Entity t(5;21)(q13;q22) myelodysplastic syndrome (MDS) and AML --> ?/ AML1
  
Entity t(8;21)(q22;q22)/AML. --> ETO - AML1
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 / AML1
  
Entity t(8;21)(q24;q22) ALL and AML --> TRPS1 / AML1
  
Entity t(12;21)(p13;q22)/ALL --> ETV6-AML1
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 --> ?/ AML1
  
Entity t(16;21)(q24;q22) AML --> MTG16-AML1
Disease AML and therapy related AML; mainly with preceeding MDS
Prognosis very poor
  
Entity t(17;21)(q11;q22) AML
  
Entity t(19;21)(q13;q22) treatment related AML --> AMP19 / AML1
  
Entity t(20;21)(q1;3q22) treatment related ANL --> ? / AML1
  
Entity t(21;21)(q11;q22) MDS --> UPS25 / AML1
  

Breakpoints

 

Bibliography

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
 
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
 
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
 
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
 
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
 
A new angle on a pervasive oncogene.
Cleary ML
Nature genetics. 1999 ; 23 (2) : 134-135.
PMID 10508502
 
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
 
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
 
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
 
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
 
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
 
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.
 
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
 
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 IIIR, Nucifora G, Larson RA, Le Beau MM, Rowley JD.
Blood 1998; 92: 2879-2885.
 
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: 336-345.
 
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.
 
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: 227-232.
PMID 10825008
 
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 Genet Cytogenet 2000; 122: 141-143.
 
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; 95:4011-4013
 
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; 98:2856-2858.
 
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: 188-193.
PMID 11550288
 
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, 43 Annual meeting, Blood 2001; 98 11: 564a.
 
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;99:1364-1372.
 
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 Genet Cytogenet 2002; 135: 96-100.
 
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
 
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
 
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
 
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
 
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
 
A new angle on a pervasive oncogene.
Cleary ML
Nature genetics. 1999 ; 23 (2) : 134-135.
PMID 10508502
 
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
 
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
 
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
 
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
 
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
 
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.
 
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
 

Citation

This paper should be referenced as such :
Huret JL, Senon S
RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene));
Atlas Genet Cytogenet Oncol Haematol. in press
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) [ 61 ]
  21q22 rearrangements (RUNX1) in treatment related leukemia
3q26 rearrangements (MECOM) in myeloid malignancies
Classification of acute myeloid leukemias
Classification of myelodysplastic syndromes 2015
Chronic Myelomonocytic Leukemia (CMML)
del(21)(q21q22) USP16/RUNX1
dic(9;20)(p11-13;q11) PAX5/Various
dup(21q) amplified (RUNX1)
t(1;2)(p36;p21) PRDM16 and LINC00982/?
t(1;9)(p13;p12) PAX5/HIPK1
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;8)(p23;p11) KAT6A/ASXL2
t(2;21)(p11;q22) RUNX1/?
t(2;21)(q11;q22)
t(3;7)(q26;q21) MECOM/CDK6
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;11)(p12;q23) KMT2A/FRYL
t(4;21)(q31;q22) RUNX1/?
t(4;21)(q31;q22) RUNX1/SH3D19
t(4;21)(q35;q22) RUNX1/?
t(5;7)(q35;q21) TLX3/CDK6
t(5;21)(q13;q22) RUNX1/?
t(6;21)(p22;q22) RUNX1-?
t(6;22)(p21;q11)
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(9;21)(p22;q22)
t(9;21)(q34;q22) RUNX1 truncated
t(X;21)(p11;q22) RUNX1/?
t(X;21)(q26;q22) ELF4/ERG
t(11;12)(p15;q13) NUP98/?
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/?
t(20;21)(q13;q22) RUNX1/?
t(20;21)(q13.2;q22.12) ZFP64/RUNX1
+13 or trisomy 13
+16 or trisomy 16 (solely)
+21 or trisomy 21
t(X;21)(p22;q22) RUNX1/RPL22

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
Cards
AtlasAML1ID52
Entrez_Gene (NCBI)RUNX1  861  runt related transcription factor 1
GeneCards (Weizmann)RUNX1
Ensembl hg19 (Hinxton)ENSG00000159216 [Gene_View]  chr21:36160098-36260987 [Contig_View]  RUNX1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000159216 [Gene_View]  chr21:36160098-36260987 [Contig_View]  RUNX1 [Vega]
ICGC DataPortalENSG00000159216
TCGA cBioPortalRUNX1
AceView (NCBI)RUNX1
Genatlas (Paris)RUNX1
WikiGenes861
SOURCE (Princeton)RUNX1
Genomic and cartography
GoldenPath hg19 (UCSC)RUNX1  -     chr21:36160098-36260987 -  21q22.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RUNX1  -     21q22.3   [Description]    (hg38-Dec_2013)
EnsemblRUNX1 - 21q22.3 [CytoView hg19]  RUNX1 - 21q22.3 [CytoView hg38]
Mapping of homologs : NCBIRUNX1 [Mapview hg19]  RUNX1 [Mapview hg38]
OMIM151385   601399   
Gene and transcription
Genbank (Entrez)AA878154 AK226159 AK310587 AK310646 AL581043
RefSeq transcript (Entrez)NM_001001890 NM_001122607 NM_001754
RefSeq genomic (Entrez)NC_000021 NC_018932 NG_011402 NT_011512 NW_004929426
Consensus coding sequences : CCDS (NCBI)RUNX1
Cluster EST : UnigeneHs.612648 [ NCBI ]
CGAP (NCI)Hs.612648
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]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)861
GTEX Portal (Tissue expression)RUNX1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ01196 (Uniprot)
NextProtQ01196  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ01196
Splice isoforms : SwissVarQ01196 (Swissvar)
PhosPhoSitePlusQ01196
Domaine pattern : Prosite (Expaxy)RUNT (PS51062)   
Domains : Interpro (EBI)AML1_Runt    p53-like_TF_DNA-bd    p53/RUNT-type_TF_DNA-bd    Runt_dom    Runx_central_dom    RunxI_C_dom    TF_Runt-rel_RUNX   
Domain families : Pfam (Sanger)Runt (PF00853)    RunxI (PF08504)   
Domain families : Pfam (NCBI)pfam00853    pfam08504   
DMDM Disease mutations861
Blocks (Seattle)RUNX1
PDB (SRS)1CMO    1CO1    1E50    1H9D    1LJM   
PDB (PDBSum)1CMO    1CO1    1E50    1H9D    1LJM   
PDB (IMB)1CMO    1CO1    1E50    1H9D    1LJM   
PDB (RSDB)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 AtlasENSG00000159216
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 : AmiGOregulatory region DNA binding  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II regulatory region sequence-specific DNA binding  core promoter binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  ossification  chondrocyte differentiation  DNA binding  transcription factor activity, sequence-specific DNA binding  calcium ion binding  protein binding  ATP binding  nucleus  nucleus  nucleoplasm  cytoplasm  transcription from RNA polymerase II promoter  transcription factor binding  hemopoiesis  hemopoiesis  myeloid cell differentiation  negative regulation of granulocyte differentiation  positive regulation of granulocyte differentiation  positive regulation of interleukin-2 production  protein homodimerization activity  intracellular membrane-bounded organelle  positive regulation of angiogenesis  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  peripheral nervous system neuron development  hematopoietic stem cell proliferation  
Ontology : EGO-EBIregulatory region DNA binding  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II regulatory region sequence-specific DNA binding  core promoter binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  ossification  chondrocyte differentiation  DNA binding  transcription factor activity, sequence-specific DNA binding  calcium ion binding  protein binding  ATP binding  nucleus  nucleus  nucleoplasm  cytoplasm  transcription from RNA polymerase II promoter  transcription factor binding  hemopoiesis  hemopoiesis  myeloid cell differentiation  negative regulation of granulocyte differentiation  positive regulation of granulocyte differentiation  positive regulation of interleukin-2 production  protein homodimerization activity  intracellular membrane-bounded organelle  positive regulation of angiogenesis  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  peripheral nervous system neuron development  hematopoietic stem cell proliferation  
Pathways : KEGGPathways in cancer    Transcriptional misregulation in cancer    Chronic myeloid leukemia    Acute myeloid leukemia   
REACTOMEQ01196 [protein]
REACTOME PathwaysR-HSA-549127 Organic cation transport [pathway]
NDEx Network
Atlas of Cancer Signalling NetworkRUNX1
Wikipedia pathwaysRUNX1
Orthology - Evolution
OrthoDB861
GeneTree (enSembl)ENSG00000159216
Phylogenetic Trees/Animal Genes : TreeFamRUNX1
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: TCGAAKAP9 7q21.2 RUNX1 21q22.12 BRCA
Fusion: TCGADYRK1A 21q22.13 RUNX1 21q22.12 HNSC
Fusion: TCGAFBXO42 1p36.13 RUNX1 21q22.12 BRCA
Fusion: TCGARCAN1 21q22.12 RUNX1 21q22.12 BRCA
Fusion: TCGARUNX1 21q22.12 CEP76 18p11.21 LUAD
Fusion: TCGARUNX1 21q22.12 MECOM 3q26.2 LAML
Fusion: TCGARUNX1 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]
Polymorphisms : SNP, variants
NCBI Variation ViewerRUNX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RUNX1
dbVarRUNX1
ClinVarRUNX1
1000_GenomesRUNX1 
Exome Variant ServerRUNX1
ExAC (Exome Aggregation Consortium)RUNX1 (select the gene name)
Genetic variants : HAPMAP861
Genomic Variants (DGV)RUNX1 [DGVbeta]
Mutations
ICGC Data PortalRUNX1 
TCGA Data PortalRUNX1 
Broad Tumor PortalRUNX1
OASIS PortalRUNX1 [ Somatic mutations - Copy number]
Cancer Gene: CensusRUNX1 
Somatic Mutations in Cancer : COSMICRUNX1 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)21:36160098-36260987  ENSG00000159216
CONAN: Copy Number AnalysisRUNX1 
Mutations and Diseases : HGMDRUNX1
OMIM151385    601399   
MedgenRUNX1
Genetic Testing Registry RUNX1
NextProtQ01196 [Medical]
TSGene861
GENETestsRUNX1
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)
Other databasehttp://cancergenome.broadinstitute.org/index.php?tgene=RUNX1
Probes
ProbeAML1 (21q22.3) in normal cells (Bari)
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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