Gene Page: RUNX1

Summary ?
GeneID861
SymbolRUNX1
SynonymsAML1|AML1-EVI-1|AMLCR1|CBF2alpha|CBFA2|EVI-1|PEBP2aB|PEBP2alpha
Descriptionrunt related transcription factor 1
ReferenceMIM:151385|HGNC:HGNC:10471|Ensembl:ENSG00000159216|HPRD:01043|Vega:OTTHUMG00000086299
Gene typeprotein-coding
Map location21q22.3
Pascal p-value0.395
Fetal beta-0.111
DMG2 (# studies)
eGeneMyers' cis & trans

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Jaffe_2016Genome-wide DNA methylation analysisThis dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05. 2
DMG:Wockner_2014Genome-wide DNA methylation analysisThis dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 2
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophreniasClick to show details

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg114986072136399226RUNX15.647E-4-0.4560.049DMG:Wockner_2014
cg228664262136263347RUNX12E-9-0.0131.64E-6DMG:Jaffe_2016

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs2300384chr2135253332RUNX18610.04cis
rs12564871chr1163771926RUNX18610.2trans
rs6430976chr2128822384RUNX18610trans
rs11684252chr2128829365RUNX18610.11trans
rs17036588chr4158561487RUNX18615.435E-4trans
rs7445750chr5104331223RUNX18610.02trans
rs544338chr5104625129RUNX18610.18trans
rs1031612chr84728687RUNX18610.12trans
rs509390chr8102500402RUNX18610.07trans
rs17618655chr973983104RUNX18611.896E-5trans
rs11255704chr108501820RUNX18610.07trans
rs4934985chr1033905260RUNX18610.1trans
rs16933426chr1078113005RUNX18610.01trans
rs17111364chr1097901813RUNX18610.17trans
rs11214244chr11112434429RUNX18610.15trans
rs11216730chr11117918701RUNX18610.12trans
rs17089379chr1364433308RUNX18610.05trans
rs8072151chr1750228268RUNX18614.62E-4trans
rs8107683chr1935901140RUNX18610.09trans
rs2179733chr2053876875RUNX18610.01trans
rs1344430chr2060099390RUNX18610.05trans
rs66520050RUNX18610.06trans
rs2984344chrX71523613RUNX18610.12trans
rs17340169chrX138724917RUNX18610.13trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
PDCL0.900.90
WDR30.900.90
MAPRE10.900.89
AP3M10.890.91
RCBTB20.890.90
ZFP1610.890.89
SUPT16H0.890.89
SMAD40.890.91
HNRNPU0.890.90
ZBTB100.880.91
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
FXYD1-0.67-0.81
MT-CO2-0.66-0.82
AF347015.31-0.66-0.80
AIFM3-0.65-0.71
C5orf53-0.65-0.69
IFI27-0.65-0.79
HLA-F-0.65-0.70
AF347015.27-0.65-0.78
AF347015.33-0.64-0.77
S100B-0.63-0.73

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
AESAES-1 | AES-2 | ESP1 | GRG | GRG5 | TLE5amino-terminal enhancer of splitTwo-hybridBioGRID10825294 
CBFA2T2DKFZp313F2116 | EHT | MTGR1 | ZMYND3core-binding factor, runt domain, alpha subunit 2; translocated to, 2-HPRD10675041 
CBFA2T3ETO2 | MTG16 | MTGR2 | ZMYND4core-binding factor, runt domain, alpha subunit 2; translocated to, 3-HPRD14703694 
CBFBPEBP2Bcore-binding factor, beta subunit-HPRD,BioGRID10856244 
CBFBPEBP2Bcore-binding factor, beta subunitCbf-beta interacts with AML1a. This interaction was modeled on a demonstrated interaction between mouse Cbf-beta and human AML1a.BIND9751710 
CBFBPEBP2Bcore-binding factor, beta subunitCbf-beta interacts with AML1b. This interaction was modeled on a demonstrated interaction between mouse Cbf-beta and human AML1b.BIND9751710 
CEBPBC/EBP-beta | CRP2 | IL6DBP | LAP | MGC32080 | NF-IL6 | TCF5CCAAT/enhancer binding protein (C/EBP), beta-HPRD,BioGRID8622667 
ELF2EU32 | NERF | NERF-1A | NERF-1B | NERF-1a,b | NERF-2E74-like factor 2 (ets domain transcription factor)-HPRD14970218 
ELF4ELFR | MEFE74-like factor 4 (ets domain transcription factor)-HPRD,BioGRID10207087 
FOSAP-1 | C-FOSv-fos FBJ murine osteosarcoma viral oncogene homolog-HPRD,BioGRID11641401 
JUNAP-1 | AP1 | c-Junjun oncogene-HPRD,BioGRID11274169 
LEF1DKFZp586H0919 | TCF1ALPHAlymphoid enhancer-binding factor 1Reconstituted ComplexBioGRID12551949 
MYST4DKFZp313G1618 | FLJ90335 | KAT6B | KIAA0383 | MORF | MOZ2 | qkf | querkopfMYST histone acetyltransferase (monocytic leukemia) 4-HPRD,BioGRID11965546 
PAX5BSAPpaired box 5-HPRD,BioGRID10455134 
SMAD1BSP1 | JV4-1 | JV41 | MADH1 | MADR1SMAD family member 1Affinity Capture-WesternBioGRID10531362 
SMAD2JV18 | JV18-1 | MADH2 | MADR2 | MGC22139 | MGC34440 | hMAD-2 | hSMAD2SMAD family member 2Affinity Capture-WesternBioGRID10531362 
SMAD3DKFZp586N0721 | DKFZp686J10186 | HSPC193 | HsT17436 | JV15-2 | MADH3 | MGC60396SMAD family member 3Affinity Capture-WesternBioGRID10531362 
SMAD5DKFZp781C1895 | DKFZp781O1323 | Dwfc | JV5-1 | MADH5SMAD family member 5Affinity Capture-WesternBioGRID10531362 
SUV39H1KMT1A | MG44 | SUV39Hsuppressor of variegation 3-9 homolog 1 (Drosophila)-HPRD,BioGRID12917624 
TLE1ESG | ESG1 | GRG1transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)AML1a interacts with TLE1.BIND9751710 
TLE1ESG | ESG1 | GRG1transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)-HPRD,BioGRID9751710 
TLE1ESG | ESG1 | GRG1transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)AML1b interacts with TLE1.BIND9751710 
TLE2ESG | ESG2 | FLJ41188 | GRG2transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)-HPRD10825294 
VDRNR1I1vitamin D (1,25- dihydroxyvitamin D3) receptorAffinity Capture-Western
Reconstituted Complex		BioGRID12460926 
YAP1YAP | YAP2 | YAP65 | YKIYes-associated protein 1, 65kDa-HPRD,BioGRID10228168 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG PATHWAYS IN CANCER 328259All SZGR 2.0 genes in this pathway
KEGG CHRONIC MYELOID LEUKEMIA 7359All SZGR 2.0 genes in this pathway
KEGG ACUTE MYELOID LEUKEMIA 6047All SZGR 2.0 genes in this pathway
PID SMAD2 3NUCLEAR PATHWAY 8263All SZGR 2.0 genes in this pathway
PID DELTA NP63 PATHWAY 4734All SZGR 2.0 genes in this pathway
BERTUCCI MEDULLARY VS DUCTAL BREAST CANCER DN 169118All SZGR 2.0 genes in this pathway
SOTIRIOU BREAST CANCER GRADE 1 VS 3 DN 5234All SZGR 2.0 genes in this pathway
FULCHER INFLAMMATORY RESPONSE LECTIN VS LPS UP 579346All SZGR 2.0 genes in this pathway
WIKMAN ASBESTOS LUNG CANCER DN 2813All SZGR 2.0 genes in this pathway
VECCHI GASTRIC CANCER EARLY UP 430232All SZGR 2.0 genes in this pathway
OSWALD HEMATOPOIETIC STEM CELL IN COLLAGEN GEL UP 233161All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 1 DN 242165All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 2 DN 281186All SZGR 2.0 genes in this pathway
TONKS TARGETS OF RUNX1 RUNX1T1 FUSION HSC UP 185126All SZGR 2.0 genes in this pathway
ODONNELL TFRC TARGETS UP 456228All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA UP 1821933All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA ANAPLASTIC UP 722443All SZGR 2.0 genes in this pathway
DELYS THYROID CANCER UP 443294All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY SERUM DEPRIVATION UP 552347All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 17811082All SZGR 2.0 genes in this pathway
GRAESSMANN RESPONSE TO MC AND DOXORUBICIN DN 770415All SZGR 2.0 genes in this pathway
BERENJENO TRANSFORMED BY RHOA UP 536340All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL BREAST 3 4WK UP 214144All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL BREAST 4 5WK UP 271175All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL BREAST 5 6WK DN 13797All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL BREAST 6 7WK UP 197135All SZGR 2.0 genes in this pathway
VETTER TARGETS OF PRKCA AND ETS1 UP 168All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL TGFB1 TARGETS UP 169127All SZGR 2.0 genes in this pathway
KLEIN TARGETS OF BCR ABL1 FUSION 4534All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 DN 855609All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 COMMON DN 483336All SZGR 2.0 genes in this pathway
KIM MYCL1 AMPLIFICATION TARGETS DN 2012All SZGR 2.0 genes in this pathway
SHETH LIVER CANCER VS TXNIP LOSS PAM5 9459All SZGR 2.0 genes in this pathway
PUJANA BRCA1 PCC NETWORK 16521023All SZGR 2.0 genes in this pathway
PUJANA BRCA2 PCC NETWORK 423265All SZGR 2.0 genes in this pathway
PUJANA ATM PCC NETWORK 1442892All SZGR 2.0 genes in this pathway
NUYTTEN NIPP1 TARGETS DN 848527All SZGR 2.0 genes in this pathway
ROPERO HDAC2 TARGETS 11471All SZGR 2.0 genes in this pathway
SCHAEFFER PROSTATE DEVELOPMENT 48HR DN 428306All SZGR 2.0 genes in this pathway
BENPORATH CYCLING GENES 648385All SZGR 2.0 genes in this pathway
SHEN SMARCA2 TARGETS DN 357212All SZGR 2.0 genes in this pathway
BYSTRYKH HEMATOPOIESIS STEM CELL QTL CIS 12877All SZGR 2.0 genes in this pathway
FERRANDO TAL1 NEIGHBORS 2115All SZGR 2.0 genes in this pathway
TARTE PLASMA CELL VS PLASMABLAST UP 398262All SZGR 2.0 genes in this pathway
OKUMURA INFLAMMATORY RESPONSE LPS 183115All SZGR 2.0 genes in this pathway
PENG RAPAMYCIN RESPONSE UP 203130All SZGR 2.0 genes in this pathway
FAELT B CLL WITH VH REARRANGEMENTS UP 4834All SZGR 2.0 genes in this pathway
NUMATA CSF3 SIGNALING VIA STAT3 2217All SZGR 2.0 genes in this pathway
VERHAAK AML WITH NPM1 MUTATED UP 183111All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 16HR DN 8662All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 10HR DN 5637All SZGR 2.0 genes in this pathway
TRAYNOR RETT SYNDROM DN 1914All SZGR 2.0 genes in this pathway
RAMASWAMY METASTASIS DN 6147All SZGR 2.0 genes in this pathway
WANG CISPLATIN RESPONSE AND XPC DN 228146All SZGR 2.0 genes in this pathway
DELASERNA MYOD TARGETS UP 8951All SZGR 2.0 genes in this pathway
ZHU CMV 8 HR DN 5340All SZGR 2.0 genes in this pathway
ZHU CMV 24 HR DN 9164All SZGR 2.0 genes in this pathway
GENTILE UV RESPONSE CLUSTER D2 4130All SZGR 2.0 genes in this pathway
GENTILE UV HIGH DOSE DN 312203All SZGR 2.0 genes in this pathway
HAN JNK SINGALING UP 3521All SZGR 2.0 genes in this pathway
ZHU CMV ALL DN 12893All SZGR 2.0 genes in this pathway
JAZAERI BREAST CANCER BRCA1 VS BRCA2 UP 4928All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 12HR DN 10164All SZGR 2.0 genes in this pathway
BILD MYC ONCOGENIC SIGNATURE 206117All SZGR 2.0 genes in this pathway
BILD HRAS ONCOGENIC SIGNATURE 261166All SZGR 2.0 genes in this pathway
DURCHDEWALD SKIN CARCINOGENESIS DN 264168All SZGR 2.0 genes in this pathway
SARRIO EPITHELIAL MESENCHYMAL TRANSITION UP 180114All SZGR 2.0 genes in this pathway
IWANAGA CARCINOGENESIS BY KRAS UP 170107All SZGR 2.0 genes in this pathway
MCCABE BOUND BY HOXC6 469239All SZGR 2.0 genes in this pathway
MCCABE HOXC6 TARGETS CANCER UP 3123All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER WITH H3K27ME3 DN 228114All SZGR 2.0 genes in this pathway
MITSIADES RESPONSE TO APLIDIN UP 439257All SZGR 2.0 genes in this pathway
SMID BREAST CANCER LUMINAL A UP 8452All SZGR 2.0 genes in this pathway
BONOME OVARIAN CANCER SURVIVAL OPTIMAL DEBULKING 246152All SZGR 2.0 genes in this pathway
WEST ADRENOCORTICAL TUMOR DN 546362All SZGR 2.0 genes in this pathway
GRESHOCK CANCER COPY NUMBER UP 323240All SZGR 2.0 genes in this pathway
RUTELLA RESPONSE TO CSF2RB AND IL4 UP 338225All SZGR 2.0 genes in this pathway
RUTELLA RESPONSE TO HGF UP 418282All SZGR 2.0 genes in this pathway
RUTELLA RESPONSE TO HGF VS CSF2RB AND IL4 DN 245150All SZGR 2.0 genes in this pathway
HINATA NFKB TARGETS KERATINOCYTE DN 2315All SZGR 2.0 genes in this pathway
HOFMANN MYELODYSPLASTIC SYNDROM LOW RISK UP 2215All SZGR 2.0 genes in this pathway
MEISSNER BRAIN HCP WITH H3K4ME3 AND H3K27ME3 1069729All SZGR 2.0 genes in this pathway
VALK AML CLUSTER 15 3119All SZGR 2.0 genes in this pathway
YAGI AML WITH INV 16 TRANSLOCATION 422277All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 4HR DN 254158All SZGR 2.0 genes in this pathway
WHITFIELD CELL CYCLE G1 S 14776All SZGR 2.0 genes in this pathway
MARTENS BOUND BY PML RARA FUSION 456287All SZGR 2.0 genes in this pathway
KASLER HDAC7 TARGETS 1 UP 194133All SZGR 2.0 genes in this pathway
LEE BMP2 TARGETS DN 882538All SZGR 2.0 genes in this pathway
DUAN PRDM5 TARGETS 7952All SZGR 2.0 genes in this pathway
TORCHIA TARGETS OF EWSR1 FLI1 FUSION UP 271165All SZGR 2.0 genes in this pathway
KOINUMA TARGETS OF SMAD2 OR SMAD3 824528All SZGR 2.0 genes in this pathway
PLASARI TGFB1 TARGETS 10HR UP 199143All SZGR 2.0 genes in this pathway
KRIEG HYPOXIA NOT VIA KDM3A 770480All SZGR 2.0 genes in this pathway
ZWANG CLASS 3 TRANSIENTLY INDUCED BY EGF 222159All SZGR 2.0 genes in this pathway