RUNX1 (RUNX family transcription factor 1) - Rat Genome Database
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Gene: RUNX1 (RUNX family transcription factor 1) Homo sapiens
Analyze
Symbol: RUNX1
Name: RUNX family transcription factor 1
RGD ID: 736526
Description: PARTICIPATES IN acute myeloid leukemia pathway; chronic myeloid leukemia pathway; transforming growth factor-beta Smad dependent signaling pathway; ASSOCIATED WITH Abnormal leukocyte count; acute myeloid leukemia; Alzheimer's disease
Type: ncrna
RefSeq Status: VALIDATED
Also known as: acute myeloid leukemia 1 protein; AML1; aml1 oncogene; AML1-EVI-1; AML1-EVI-1 fusion protein; AMLCR1; CBF-alpha-2; CBF2alpha; CBFA2; core-binding factor subunit alpha-2; core-binding factor, runt domain, alpha subunit 2; EVI-1; oncogene AML-1; PEA2-alpha B; PEBP2-alpha B; PEBP2aB; PEBP2alpha; polyomavirus enhancer-binding protein 2 alpha B subunit; runt related transcription factor 1; runt-related transcription factor 1; RUNX1/ZNF687 fusion; SL3-3 enhancer factor 1 alpha B subunit; SL3/AKV core-binding factor alpha B subunit; transcription factor
RGD Orthologs
Chinchilla
Bonobo
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2134,787,801 - 36,004,667 (-)EnsemblGRCh38hg38GRCh38
GRCh382135,372,507 - 35,580,764 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372136,744,805 - 36,953,062 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362135,081,968 - 35,343,465 (-)NCBINCBI36hg18NCBI36
Build 342135,081,968 - 35,343,465NCBI
Celera2121,359,674 - 21,621,110 (-)NCBI
Cytogenetic Map21q22.12NCBI
HuRef2122,223,523 - 22,431,721 (-)NCBIHuRef
CHM1_12136,306,977 - 36,515,166 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


References

References - curated
1. Buga AM, etal., Front Aging Neurosci. 2014 Mar 18;6:44. doi: 10.3389/fnagi.2014.00044. eCollection 2014.
2. Chen CY, etal., Br J Haematol. 2007 Nov;139(3):405-14.
3. Cho EK, etal., Korean J Intern Med. 2003 Mar;18(1):13-20.
4. Choi SJ, etal., Blood. 2003 May 15;101(10):3778-83. Epub 2003 Jan 30.
5. Ford AM, etal., Proc Natl Acad Sci U S A. 1998 Apr 14;95(8):4584-8.
6. Gattenlohner S, etal., Am J Pathol 2003 Sep;163(3):1081-90.
7. GOA_HUMAN data from the GO Consortium
8. Gonzalez de Aguilar JL, etal., Physiol Genomics. 2008 Jan 17;32(2):207-18. Epub 2007 Nov 13.
9. Grossmann V, etal., Haematologica. 2011 Dec;96(12):1874-7. doi: 10.3324/haematol.2011.043919. Epub 2011 Aug 9.
10. Growney JD, etal., Blood. 2005 Jul 15;106(2):494-504. Epub 2005 Mar 22.
11. Haley KJ, etal., Am J Physiol Lung Cell Mol Physiol. 2011 Nov;301(5):L693-701. Epub 2011 Jul 29.
12. Jung J, etal., BMC Proc. 2009 Dec 15;3 Suppl 7:S76.
13. Komlosi K, etal., Clin Exp Rheumatol. 2008 Jan-Feb;26(1):61-6.
14. Konno R, etal., Am J Reprod Immunol. 2007 Oct;58(4):330-43.
15. Kundu M, etal., Blood. 2005 Nov 15;106(10):3621-4. Epub 2005 Jul 28.
16. Ma W, etal., Birth Defects Res A Clin Mol Teratol. 2015 Sep;103(9):772-9. doi: 10.1002/bdra.23401. Epub 2015 Jul 14.
17. Massagué J, etal., Genes Dev. 2005 Dec 1;19(23):2783-810.
18. OMIM Disease Annotation Pipeline
19. Orozco G, etal., J Rheumatol. 2006 Jul;33(7):1235-9.
20. Patel A, etal., Neurosci Lett. 2011 Jan 7;487(2):144-8. Epub 2010 Oct 12.
21. Pipeline to import KEGG annotations from KEGG into RGD
22. Preudhomme C, etal., Blood. 2000 Oct 15;96(8):2862-9.
23. Reichard KK, etal., Mod Pathol. 2011 Dec;24(12):1606-11. doi: 10.1038/modpathol.2011.118. Epub 2011 Aug 5.
24. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
25. RGD automated import pipeline for gene-chemical interactions
26. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
27. Ross S and Hill CS, Int J Biochem Cell Biol. 2008;40(3):383-408. Epub 2007 Oct 7.
28. Roulston D, etal., Blood. 1998 Oct 15;92(8):2879-85.
29. Shintaku Y, etal., Cells Tissues Organs. 2011;194(1):38-48. doi: 10.1159/000322557. Epub 2011 Jan 22.
30. Takata Y, etal., J Hum Genet. 2008;53(2):163-73. Epub 2007 Dec 18.
31. Tang JL, etal., Blood. 2009 Dec 17;114(26):5352-61. doi: 10.1182/blood-2009-05-223784. Epub 2009 Oct 6.
32. Wang T, etal., PLoS One. 2011;6(12):e28908. Epub 2011 Dec 21.
33. Wong WF, etal., J Immunol. 2012 May 2.
34. Wotton S, etal., Cancer Res. 2002 Dec 15;62(24):7181-5.
35. Yanagida M, etal., Oncogene. 2005 Jun 30;24(28):4477-85.
36. Yang LJ, etal., Chin Med J (Engl). 2009 Feb 5;122(3):331-7.
Additional References at PubMed
PMID:10830953   PMID:22788528   PMID:24390342  


Genomics

Comparative Map Data
RUNX1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2134,787,801 - 36,004,667 (-)EnsemblGRCh38hg38GRCh38
GRCh382135,372,507 - 35,580,764 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372136,744,805 - 36,953,062 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362135,081,968 - 35,343,465 (-)NCBINCBI36hg18NCBI36
Build 342135,081,968 - 35,343,465NCBI
Celera2121,359,674 - 21,621,110 (-)NCBI
Cytogenetic Map21q22.12NCBI
HuRef2122,223,523 - 22,431,721 (-)NCBIHuRef
CHM1_12136,306,977 - 36,515,166 (-)NCBICHM1_1
Runx1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540734,104,035 - 34,342,928 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540734,108,653 - 34,342,657 (-)NCBIChiLan1.0ChiLan1.0
RUNX1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12134,526,631 - 34,788,930 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2134,530,956 - 34,788,544 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02121,159,586 - 21,423,946 (-)NCBIMhudiblu_PPA_v0panPan3
Runx1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365007,621,328 - 7,710,909 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RUNX1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl278,819,194 - 78,924,495 (-)Ensembl
ChlSab1.1278,819,189 - 79,082,491 (-)NCBI
Runx1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474522,921,180 - 23,158,250 (-)NCBI

Position Markers
D21S1921  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,422,181 - 36,422,388UniSTSGRCh37
Build 362135,344,051 - 35,344,258RGDNCBI36
Celera2121,621,696 - 21,621,907RGD
Cytogenetic Map21q22.3UniSTS
HuRef2121,901,076 - 21,901,287UniSTS
Marshfield Genetic Map2133.84RGD
Marshfield Genetic Map2133.84UniSTS
Genethon Genetic Map2137.2UniSTS
Whitehead-YAC Contig Map21 UniSTS
D21S1895  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,351,059 - 36,351,320UniSTSGRCh37
Build 362135,272,929 - 35,273,190RGDNCBI36
Celera2121,550,574 - 21,550,839RGD
Cytogenetic Map21q22.3UniSTS
HuRef2121,829,958 - 21,830,223UniSTS
Marshfield Genetic Map2133.84UniSTS
Marshfield Genetic Map2133.84RGD
Genethon Genetic Map2137.2UniSTS
TNG Radiation Hybrid Map2112542.0UniSTS
Stanford-G3 RH Map21984.0UniSTS
NCBI RH Map21269.2UniSTS
GeneMap99-G3 RH Map21984.0UniSTS
SHGC-52097  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,422,133 - 36,422,389UniSTSGRCh37
Build 362135,344,003 - 35,344,259RGDNCBI36
Celera2121,621,648 - 21,621,908RGD
Cytogenetic Map21q22.3UniSTS
HuRef2121,901,028 - 21,901,288UniSTS
TNG Radiation Hybrid Map2112571.0UniSTS
RH27207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,308,955 - 36,309,157UniSTSGRCh37
Build 362135,230,825 - 35,231,027RGDNCBI36
Celera2121,508,469 - 21,508,671RGD
Cytogenetic Map21q22.3UniSTS
HuRef2121,787,842 - 21,788,044UniSTS
SHGC-6871  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,195,555 - 36,195,685UniSTSGRCh37
Build 362135,117,425 - 35,117,555RGDNCBI36
Celera2121,395,131 - 21,395,261RGD
Cytogenetic Map21q22.3UniSTS
HuRef2121,674,546 - 21,674,676UniSTS
RH98631  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,264,357 - 36,264,525UniSTSGRCh37
Build 362135,186,227 - 35,186,395RGDNCBI36
Celera2121,463,939 - 21,464,107RGD
Cytogenetic Map21q22.3UniSTS
HuRef2121,743,315 - 21,743,483UniSTS
GeneMap99-GB4 RH Map21180.47UniSTS
RH81059  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,160,605 - 36,160,841UniSTSGRCh37
Build 362135,082,475 - 35,082,711RGDNCBI36
Celera2121,360,181 - 21,360,417RGD
Cytogenetic Map21q22.3UniSTS
HuRef2121,639,595 - 21,639,831UniSTS
RH92717  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,164,069 - 36,164,189UniSTSGRCh37
Build 362135,085,939 - 35,086,059RGDNCBI36
Celera2121,363,645 - 21,363,765RGD
Cytogenetic Map21q22.3UniSTS
HuRef2121,643,059 - 21,643,179UniSTS
GeneMap99-GB4 RH Map21177.24UniSTS
SHGC-78899  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,308,714 - 36,309,032UniSTSGRCh37
Build 362135,230,584 - 35,230,902RGDNCBI36
Celera2121,508,228 - 21,508,546RGD
Cytogenetic Map21q22.3UniSTS
HuRef2121,787,601 - 21,787,919UniSTS
TNG Radiation Hybrid Map2112535.0UniSTS
SHGC-82960  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,368,357 - 36,368,456UniSTSGRCh37
Build 362135,290,227 - 35,290,326RGDNCBI36
Celera2121,567,876 - 21,567,975RGD
Cytogenetic Map21q22.3UniSTS
HuRef2121,847,272 - 21,847,371UniSTS
TNG Radiation Hybrid Map2112554.0UniSTS
RH118473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,257,340 - 36,257,659UniSTSGRCh37
Build 362135,179,210 - 35,179,529RGDNCBI36
Celera2121,456,921 - 21,457,240RGD
Cytogenetic Map21q22.3UniSTS
HuRef2121,736,297 - 21,736,616UniSTS
TNG Radiation Hybrid Map2112532.0UniSTS
D21S326  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,195,521 - 36,195,722UniSTSGRCh37
Build 362135,117,391 - 35,117,592RGDNCBI36
Celera2121,395,097 - 21,395,298RGD
Cytogenetic Map21q22.3UniSTS
HuRef2121,674,512 - 21,674,713UniSTS
D21S393  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,261,663 - 36,261,745UniSTSGRCh37
Build 362135,183,533 - 35,183,615RGDNCBI36
Celera2121,461,245 - 21,461,327RGD
Cytogenetic Map21q22.3UniSTS
HuRef2121,740,621 - 21,740,703UniSTS
D21S1706  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,265,041 - 36,265,146UniSTSGRCh37
Build 362135,186,911 - 35,187,016RGDNCBI36
Celera2121,464,623 - 21,464,728RGD
Cytogenetic Map21q22.3UniSTS
HuRef2121,743,999 - 21,744,104UniSTS
GDB:185177  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,193,616 - 36,193,961UniSTSGRCh37
Build 362135,115,486 - 35,115,831RGDNCBI36
Celera2121,393,192 - 21,393,537RGD
Cytogenetic Map21q22.3UniSTS
HuRef2121,672,607 - 21,672,952UniSTS
SHGC-170125  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,160,064 - 36,160,388UniSTSGRCh37
Build 362135,081,934 - 35,082,258RGDNCBI36
Celera2121,359,640 - 21,359,964RGD
Cytogenetic Map21q22.3UniSTS
HuRef2121,639,054 - 21,639,378UniSTS
TNG Radiation Hybrid Map2112464.0UniSTS
PMC19472P9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,408,963 - 36,409,168UniSTSGRCh37
Build 362135,330,833 - 35,331,038RGDNCBI36
Celera2121,608,480 - 21,608,685RGD
Cytogenetic Map21q22.3UniSTS
HuRef2121,887,884 - 21,888,089UniSTS
SHGC-87612  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,160,453 - 36,160,542UniSTSGRCh37
Build 362135,082,323 - 35,082,412RGDNCBI36
Celera2121,360,029 - 21,360,118RGD
Cytogenetic Map21q22.3UniSTS
HuRef2121,639,443 - 21,639,532UniSTS
TNG Radiation Hybrid Map2112451.0UniSTS
GeneMap99-GB4 RH Map21180.8UniSTS
NCBI RH Map21269.2UniSTS
G34720  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,193,805 - 36,193,935UniSTSGRCh37
Build 362135,115,675 - 35,115,805RGDNCBI36
Celera2121,393,381 - 21,393,511RGD
Cytogenetic Map21q22.3UniSTS
HuRef2121,672,796 - 21,672,926UniSTS
D21S1969  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,193,611 - 36,193,731UniSTSGRCh37
Build 362135,115,481 - 35,115,601RGDNCBI36
Celera2121,393,187 - 21,393,307RGD
Cytogenetic Map21q22.3UniSTS
HuRef2121,672,602 - 21,672,722UniSTS
GeneMap99-GB4 RH Map21179.51UniSTS
Whitehead-RH Map21173.7UniSTS
Whitehead-YAC Contig Map21 UniSTS
G34658  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,308,023 - 36,308,145UniSTSGRCh37
Build 362135,229,893 - 35,230,015RGDNCBI36
Celera2121,507,537 - 21,507,659RGD
Cytogenetic Map21q22.3UniSTS
HuRef2121,786,910 - 21,787,032UniSTS
SHGC-87606  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,307,891 - 36,308,040UniSTSGRCh37
Build 362135,229,761 - 35,229,910RGDNCBI36
Celera2121,507,405 - 21,507,554RGD
Cytogenetic Map21q22.3UniSTS
HuRef2121,786,778 - 21,786,927UniSTS
TNG Radiation Hybrid Map2112535.0UniSTS
TNG Radiation Hybrid Map2112516.0UniSTS
GeneMap99-GB4 RH Map21179.11UniSTS
Whitehead-RH Map21169.3UniSTS
SHGC-6907  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,193,606 - 36,193,899UniSTSGRCh37
Build 362135,115,476 - 35,115,769RGDNCBI36
Celera2121,393,182 - 21,393,475RGD
Cytogenetic Map21q22.3UniSTS
HuRef2121,672,597 - 21,672,890UniSTS
TNG Radiation Hybrid Map2112479.0UniSTS
Stanford-G3 RH Map21974.0UniSTS
NCBI RH Map21267.5UniSTS
GeneMap99-G3 RH Map21974.0UniSTS
SHGC-52137  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,308,920 - 36,309,051UniSTSGRCh37
Build 362135,230,790 - 35,230,921RGDNCBI36
Celera2121,508,434 - 21,508,565RGD
Cytogenetic Map21q22.3UniSTS
HuRef2121,787,807 - 21,787,938UniSTS
TNG Radiation Hybrid Map2112535.0UniSTS
SHGC-51918  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,195,624 - 36,195,722UniSTSGRCh37
Build 362135,117,494 - 35,117,592RGDNCBI36
Celera2121,395,200 - 21,395,298RGD
Cytogenetic Map21q22.3UniSTS
HuRef2121,674,615 - 21,674,713UniSTS
TNG Radiation Hybrid Map2112479.0UniSTS
RUNX1_4181  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,160,110 - 36,160,848UniSTSGRCh37
Build 362135,081,980 - 35,082,718RGDNCBI36
Celera2121,359,686 - 21,360,424RGD
HuRef2121,639,100 - 21,639,838UniSTS
UniSTS:485676  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372136,410,694 - 36,411,163UniSTSGRCh37
Build 362135,332,564 - 35,333,033RGDNCBI36
Celera2121,610,211 - 21,610,680RGD
HuRef2121,889,616 - 21,890,069UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR20Ahsa-miR-20a-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI17589498
MIR20Ahsa-miR-20a-3pMirecordsexternal_info{unchanged}{unchanged}NA17589498
MIR17hsa-miR-17-5pMirtarbaseexternal_infoLuciferase reporter assay//Reporter assay//qRT-PCRFunctional MTI17589498
MIR17hsa-miR-17-5pMirecordsexternal_info{unchanged}{unchanged}NA17589498
MIR27Ahsa-miR-27a-3pMirecordsexternal_infoNANA19114653
MIR106Ahsa-miR-106a-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI17589498
MIR106Ahsa-miR-106a-5pMirecordsexternal_info{unchanged}{unchanged}NA17589498

Predicted Target Of
Summary Value
Count of predictions:10418
Count of miRNA genes:1395
Interacting mature miRNAs:1885
Transcripts:ENST00000300305, ENST00000325074, ENST00000344691, ENST00000358356, ENST00000399237, ENST00000399240, ENST00000416754, ENST00000437180, ENST00000455571, ENST00000460207, ENST00000467577, ENST00000467692, ENST00000468726, ENST00000469087, ENST00000475045, ENST00000479325, ENST00000482318, ENST00000486278, ENST00000494829
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 260 401 146 169 426 35 1323 207 444 99 415 847 147 471 842 2
Low 2127 2320 1558 437 1511 413 2861 1686 1662 289 1014 749 23 733 1925 2 1
Below cutoff 50 267 21 18 14 17 172 293 1610 31 28 12 3 21 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000300305   ⟹   ENSP00000300305
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2134,787,801 - 35,049,344 (-)Ensembl
RefSeq Acc Id: ENST00000344691   ⟹   ENSP00000340690
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2134,787,801 - 34,888,690 (-)Ensembl
RefSeq Acc Id: ENST00000358356   ⟹   ENSP00000351123
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2134,821,279 - 34,888,690 (-)Ensembl
RefSeq Acc Id: ENST00000399237   ⟹   ENSP00000382182
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2134,834,410 - 34,889,790 (-)Ensembl
RefSeq Acc Id: ENST00000399240   ⟹   ENSP00000382184
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2134,791,786 - 34,887,183 (-)Ensembl
RefSeq Acc Id: ENST00000416754   ⟹   ENSP00000405158
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2134,892,925 - 35,049,270 (-)Ensembl
RefSeq Acc Id: ENST00000437180   ⟹   ENSP00000409227
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2134,787,801 - 35,049,298 (-)Ensembl
RefSeq Acc Id: ENST00000455571   ⟹   ENSP00000388189
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2134,880,606 - 35,049,298 (-)Ensembl
RefSeq Acc Id: ENST00000460207
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2135,954,660 - 35,984,749 (-)Ensembl
RefSeq Acc Id: ENST00000467577
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2134,856,289 - 34,859,578 (-)Ensembl
RefSeq Acc Id: ENST00000467692
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2135,372,507 - 35,580,760 (-)Ensembl
RefSeq Acc Id: ENST00000468726
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2135,064,716 - 35,065,072 (-)Ensembl
RefSeq Acc Id: ENST00000469087
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2134,832,961 - 34,856,447 (-)Ensembl
RefSeq Acc Id: ENST00000475045   ⟹   ENSP00000477072
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2134,887,046 - 36,004,667 (-)Ensembl
RefSeq Acc Id: ENST00000479325
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2134,821,279 - 34,829,970 (-)Ensembl
RefSeq Acc Id: ENST00000482318   ⟹   ENSP00000477067
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2134,791,755 - 35,049,288 (-)Ensembl
RefSeq Acc Id: ENST00000494829
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2135,435,661 - 35,465,329 (-)Ensembl
RefSeq Acc Id: ENST00000675419   ⟹   ENSP00000501943
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2134,787,801 - 35,049,302 (-)Ensembl
RefSeq Acc Id: NR_073512
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382135,372,507 - 35,580,764 (-)NCBI
Sequence:
Protein Sequences
Reference Sequences
RefSeq Acc Id: ENSP00000382184   ⟸   ENST00000399240
RefSeq Acc Id: ENSP00000382182   ⟸   ENST00000399237
RefSeq Acc Id: ENSP00000405158   ⟸   ENST00000416754
RefSeq Acc Id: ENSP00000388189   ⟸   ENST00000455571
RefSeq Acc Id: ENSP00000477067   ⟸   ENST00000482318
RefSeq Acc Id: ENSP00000300305   ⟸   ENST00000300305
RefSeq Acc Id: ENSP00000477072   ⟸   ENST00000475045
RefSeq Acc Id: ENSP00000409227   ⟸   ENST00000437180
RefSeq Acc Id: ENSP00000340690   ⟸   ENST00000344691
RefSeq Acc Id: ENSP00000351123   ⟸   ENST00000358356
RefSeq Acc Id: ENSP00000501943   ⟸   ENST00000675419
Protein Domains
MYND-type   NHR2   Runt

Promoters
RGD ID:6812144
Promoter ID:HG_ACW:50468
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:RUNX1.IAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 362135,086,061 - 35,086,561 (-)MPROMDB
RGD ID:6799260
Promoter ID:HG_KWN:40742
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   Lymphoblastoid,   NB4
Transcripts:UC002YUN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362135,124,136 - 35,125,087 (-)MPROMDB
RGD ID:6799567
Promoter ID:HG_KWN:40744
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000194236
Position:
Human AssemblyChrPosition (strand)Source
Build 362135,150,331 - 35,151,537 (-)MPROMDB
RGD ID:6799568
Promoter ID:HG_KWN:40746
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000194237
Position:
Human AssemblyChrPosition (strand)Source
Build 362135,153,731 - 35,154,737 (-)MPROMDB
RGD ID:6799569
Promoter ID:HG_KWN:40747
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:UC002YUR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362135,174,836 - 35,175,587 (-)MPROMDB
RGD ID:6799566
Promoter ID:HG_KWN:40748
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001001890,   NM_001122607,   UC002YUI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362135,181,031 - 35,183,822 (-)MPROMDB
RGD ID:6799574
Promoter ID:HG_KWN:40749
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000325074,   OTTHUMT00000194241
Position:
Human AssemblyChrPosition (strand)Source
Build 362135,183,876 - 35,184,632 (-)MPROMDB
RGD ID:6799570
Promoter ID:HG_KWN:40753
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000342083,   ENST00000399237,   ENST00000399245,   NM_001754,   OTTHUMT00000194231,   OTTHUMT00000194233,   OTTHUMT00000194239,   OTTHUMT00000194240,   UC002YUJ.2,   UC010GMU.1,   UC010GMW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362135,343,276 - 35,344,487 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001754.4(RUNX1):c.58+49656C>T single nucleotide variant Lung cancer [RCV000101932] Chr21:34999186 [GRCh38]
Chr21:36371483 [GRCh37]
Chr21:21q22.12
uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 copy number gain See cases [RCV000133676] Chr21:7749532..42971047 [GRCh38]
Chr21:15499847..44391157 [GRCh37]
Chr21:14421718..43264226 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1 copy number loss See cases [RCV000138095] Chr21:7749532..37653653 [GRCh38]
Chr21:15451032..39025955 [GRCh37]
Chr21:14372903..37947825 [NCBI36]
Chr21:21p11.2-q22.13
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting data from submitters
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3
uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.12-22.2(chr21:35543872-39993338)x1 copy number loss See cases [RCV000135412] Chr21:35543872..39993338 [GRCh38]
Chr21:36916169..41365265 [GRCh37]
Chr21:35838039..40287135 [NCBI36]
Chr21:21q22.12-22.2
pathogenic
GRCh38/hg38 21q22.12(chr21:35383466-35408413)x3 copy number gain See cases [RCV000139507] Chr21:35383466..35408413 [GRCh38]
Chr21:36755764..36780711 [GRCh37]
Chr21:35677634..35702581 [NCBI36]
Chr21:21q22.12
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10471 AgrOrtholog
COSMIC RUNX1 COSMIC
Ensembl Genes ENSG00000159216 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000467692 ENTREZGENE
Gene3D-CATH 2.60.40.720 UniProtKB/TrEMBL
GTEx ENSG00000159216 GTEx
Human Proteome Map RUNX1 Human Proteome Map
InterPro AML1_Runt UniProtKB/TrEMBL
  CBFA2T1 UniProtKB/TrEMBL
  CBFA2T1/2/3 UniProtKB/TrEMBL
  NHR2 UniProtKB/TrEMBL
  p53-like_TF_DNA-bd UniProtKB/TrEMBL
  p53/RUNT-type_TF_DNA-bd_sf UniProtKB/TrEMBL
  Runt_dom UniProtKB/TrEMBL
  TF_Runt-rel_RUNX UniProtKB/TrEMBL
  Znf_MYND UniProtKB/TrEMBL
NCBI Gene LOC100506403 ENTREZGENE
PANTHER PTHR10379 UniProtKB/TrEMBL
  PTHR10379:SF5 UniProtKB/TrEMBL
  PTHR11950 UniProtKB/TrEMBL
Pfam NHR2 UniProtKB/TrEMBL
  Runt UniProtKB/TrEMBL
  zf-MYND UniProtKB/TrEMBL
PharmGKB RUNX1 RGD
PIRSF TF_Runt-rel_RUNX UniProtKB/TrEMBL
PRINTS ETOFAMILY UniProtKB/TrEMBL
  MTG8PROTEIN UniProtKB/TrEMBL
  ONCOGENEAML1 UniProtKB/TrEMBL
PROSITE RUNT UniProtKB/TrEMBL
  ZF_MYND_1 UniProtKB/TrEMBL
  ZF_MYND_2 UniProtKB/TrEMBL
RNAcentral URS000075DB00 RNACentral
Superfamily-SCOP SSF49417 UniProtKB/TrEMBL
UniGene Hs.536609 ENTREZGENE
UniProt A0A023PPR2_HUMAN UniProtKB/TrEMBL
  A0A6M6RJQ2_HUMAN UniProtKB/TrEMBL
  A0A7D4XPZ8_HUMAN UniProtKB/TrEMBL
  Q2TAM6_HUMAN UniProtKB/TrEMBL
  U5P039_HUMAN UniProtKB/TrEMBL
  X5C3Z9_HUMAN UniProtKB/TrEMBL
  X5C404_HUMAN UniProtKB/TrEMBL
  X5C9T0_HUMAN UniProtKB/TrEMBL
  X5C9T4_HUMAN UniProtKB/TrEMBL
  X5CC24_HUMAN UniProtKB/TrEMBL
  X5CC30_HUMAN UniProtKB/TrEMBL
  X5CR08_HUMAN UniProtKB/TrEMBL
  X5CR12_HUMAN UniProtKB/TrEMBL
  X5CR15_HUMAN UniProtKB/TrEMBL
  X5CT67_HUMAN UniProtKB/TrEMBL
  X5CT71_HUMAN UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-04-09 RUNX1  RUNX family transcription factor 1    runt related transcription factor 1  Symbol and/or name change 5135510 APPROVED
2016-02-02 RUNX1  runt related transcription factor 1    runt-related transcription factor 1  Symbol and/or name change 5135510 APPROVED
2011-08-16 RUNX1  runt-related transcription factor 1  RUNX1  runt-related transcription factor 1  Symbol and/or name change 5135510 APPROVED