TF information

TF name: RUNX2
TF family: Runt
Ensembl gene ID: ENSG00000124813
Ensembl protein ID: ENSP00000496517, ENSP00000495497, ENSP00000460188, ENSP00000360491, ENSP00000458178, ENSP00000485863, ENSP00000360486, ENSP00000352514, ENSP00000360493, ENSP00000420707
Entrez gene ID: 860
Database name Link Database name Link
NCBI Gene: Genecards:
Uniprot: Wikipedia:
Cosmic 3D: Geneontology:
CCLE:

Frequency of RUNX2 in all biosamples
Sample ID Biosample type Tissue type Biosample name TF Frequency
Sample_02_006OtherCervicalcervical-cancer_parental0.5
Sample_02_021Cell lineColonV4290.18276160276737
Sample_02_069Cell lineBrainSF2680.12977099236641
Sample_02_095Cell lineMammary GlandMDA-MB-4680.45992217898833
Sample_02_182Cell lineHuman melanomaLOX-IMVI0.30459770114943
Sample_02_196Cell lineStomachNCC590.21428571428571
Sample_02_204Cell lineStomachIM950.13636363636364
Sample_02_219Cell lineMammary GlandMDA-MB-2310.32352941176471
Sample_02_242Cell lineColonV4810.070979939755175
Sample_02_258OtherLungNCI-H1299_EGFP-NEO_reporter_cells_DMSO0.16
Sample_02_267Cell lineKidney786-O0.5
Sample_02_268Cell lineKidneyA-4980.43695772567842
Sample_02_280Cell lineMammary GlandSUM159_DMSO_24h0.13333333333333
Sample_02_323Cell lineColonRKO0.5
Sample_02_358Cell lineColonLS1800.24881516587678

RUNX2 distribution in samples’ most representative CRC
Sample ID Tissue type Biosample type Biosample name
Sample_02_267KidneyCell line786-O
Sample_02_323ColonCell lineRKO

RUNX2 distribution in all CRCs
Biosample type
Biosample name
Sample ID

Genomic distribution of SEs associated with RUNX2
Download

Mutation of RUNX2
Database name Link
gnomAD: gnomAD
ExAC: ExAC
ICGC:
Database name Link
Cosmic:
Cosmic cell lines:
Depmap:

TCGA somatic mutations and clinical variants of RUNX2

rsID Chr Start Stop Ref Alt Gene_region Gene_symble Effect TCGA_Occurrence
-chr64551501845515018TGexonicRUNX2nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr64548010745480107GAexonicRUNX2synonymous LUSC|1|178|0.00562
rs12173874chr64545978445459784GAexonicRUNX2synonymous SKCM|1|368|0.00272
-chr64551459445514594CGexonicRUNX2nonsynonymous BRCA|1|982|0.00102
-chr64540568845405688GCexonicRUNX2nonsynonymous HNSC|1|512|0.00195
-chr64539065045390650CAexonicRUNX2nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr64551480945514809CAexonicRUNX2nonsynonymous UCEC|1|248|0.00403
-chr64539049845390498CAexonicRUNX2nonsynonymous TGCT|1|155|0.00645
-chr64551501445515014T-exonicRUNX2frameshift STAD|1|395|0.00253,STES|1|395|0.00253
-chr64551474745514747CAexonicRUNX2nonsynonymous LUAD|1|543|0.00184
-chr64540570745405707AGexonicRUNX2nonsynonymous KICH|1|66|0.01515,KIPAN|1|799|0.00125
-chr64539044845390448GAexonicRUNX2synonymous BLCA|1|396|0.00253,PAAD|2|185|0.01081
-chr64539048845390504GCGGCGGCGGCGGCTGC-exonicRUNX2frameshift BLCA|1|396|0.00253
-chr64540578545405785ACexonicRUNX2synonymous BLCA|1|396|0.00253
rs775204103chr64529644645296446A-UTR5RUNX2unknown ESCA|2|185|0.01081,LUAD|1|543|0.00184,PAAD|1|185|0.00541,STAD|4|395|0.01013,STES|4|395|0.01013
rs563987595chr64539044545390445AGexonicRUNX2synonymous KIPAN|2|799|0.00250,KIRP|2|282|0.00709,PAAD|2|185|0.01081,PCPG|1|184|0.00543,PRAD|1|499|0.00200,SKCM|1|368|0.00272,TGCT|1|155|0.00645,THCA|2|504|0.00397
-chr64539042745390427GAexonicRUNX2synonymous HNSC|1|512|0.00195
rs746114073chr64548008245480082CTexonicRUNX2nonsynonymous SKCM|1|368|0.00272
-chr64551482145514821AGexonicRUNX2nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr64548014245480142CAexonicRUNX2stopgain BRCA|1|982|0.00102
-chr64551501745515017A-exonicRUNX2frameshift STAD|1|395|0.00253,STES|1|395|0.00253
-chr64539964845399648GAexonicRUNX2nonsynonymous GBMLGG|1|820|0.00122,LGG|1|530|0.00189
-chr64548007845480078-CexonicRUNX2frameshift CESC|1|194|0.00515
rs377128508chr64545975345459753AGexonicRUNX2nonsynonymous KICH|1|66|0.01515,KIPAN|1|799|0.00125
-chr64551498445514984CAexonicRUNX2nonsynonymous UCEC|1|248|0.00403
-chr64551504145515041GTexonicRUNX2stoploss COADREAD|1|489|0.00204,READ|1|122|0.00820
rs746700872chr64551484545514845CTexonicRUNX2nonsynonymous SKCM|1|368|0.00272
-chr64539051445390514GAexonicRUNX2synonymous ACC|2|90|0.02222
-chr64551490345514903CTexonicRUNX2nonsynonymous PAAD|1|185|0.00541
-chr64539965345399653T-exonicRUNX2frameshift UCEC|1|248|0.00403
rs770452837chr64551468145514681CTexonicRUNX2nonsynonymous GBM|1|290|0.00345,GBMLGG|1|820|0.00122
-chr64551470745514707GAexonicRUNX2nonsynonymous COADREAD|1|489|0.00204,OV|1|469|0.00213,READ|1|122|0.00820
-chr64539044745390448AG-exonicRUNX2frameshift PAAD|6|185|0.03243,SKCM|1|368|0.00272,THYM|1|123|0.00813
-chr64539975445399754GAexonicRUNX2nonsynonymous BLCA|1|396|0.00253
-chr64551483945514839CGexonicRUNX2nonsynonymous BLCA|1|396|0.00253
rs776247579chr64540570945405709CTexonicRUNX2synonymous STAD|1|395|0.00253,STES|1|395|0.00253
rs746139832chr64551300045513000CTexonicRUNX2synonymous BRCA|1|982|0.00102
rs104893995chr64539968245399682GAexonicRUNX2nonsynonymous BRCA|1|982|0.00102,SKCM|1|368|0.00272
-chr64548004845480048CGexonicRUNX2nonsynonymous LUAD|1|543|0.00184
-chr64540577745405777GTexonicRUNX2nonsynonymous HNSC|1|512|0.00195
rs114654066chr64539035645390356CAexonicRUNX2nonsynonymous HNSC|1|512|0.00195
-chr64551499245514992GTexonicRUNX2nonsynonymous SARC|1|247|0.00405
-chr64548005845480058CTexonicRUNX2nonsynonymous CESC|1|194|0.00515
-chr64548012845480128GAexonicRUNX2synonymous SKCM|1|368|0.00272
-chr64539050445390505CG-exonicRUNX2frameshift ESCA|1|185|0.00541
rs397515538chr64539035445390354-CexonicRUNX2frameshift GBMLGG|1|820|0.00122,LGG|1|530|0.00189
-chr64539975045399750GTexonicRUNX2stopgain BRCA|1|982|0.00102
-chr64551480145514801CGexonicRUNX2nonsynonymous LUSC|1|178|0.00562
-chr64551457745514577G-exonicRUNX2frameshift BLCA|1|396|0.00253
-chr64539973345399733GTexonicRUNX2nonsynonymous BRCA|1|982|0.00102
-chr64551467945514679CTexonicRUNX2synonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr64539964045399640CTexonicRUNX2nonsynonymous CESC|1|194|0.00515,UCEC|1|248|0.00403
-chr64548009745480097GAexonicRUNX2nonsynonymous HNSC|1|512|0.00195
-chr64545968845459688GAexonicRUNX2synonymous PAAD|1|185|0.00541
-chr64551471945514719AGexonicRUNX2nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr64529643045296430GTUTR5RUNX2unknown BLCA|1|396|0.00253
-chr64539964945399649CTexonicRUNX2nonsynonymous UCEC|1|248|0.00403
rs776156260chr64529652145296521GAexonicRUNX2nonsynonymous SKCM|1|368|0.00272
rs147009083chr64540571045405710GAexonicRUNX2nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204,STAD|1|395|0.00253,STES|1|395|0.00253
-chr64548009245480092CAexonicRUNX2synonymous OV|1|469|0.00213
-chr64539046345390463GAexonicRUNX2synonymous CHOL|2|35|0.05714,GBMLGG|4|820|0.00488,HNSC|1|512|0.00195,KIPAN|1|799|0.00125,KIRP|1|282|0.00355,LGG|4|530|0.00755,PAAD|11|185|0.05946,PRAD|3|499|0.00601,THCA|3|504|0.00595
rs756718952chr64551485645514856GAexonicRUNX2synonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr64548000745480007CTexonicRUNX2nonsynonymous HNSC|1|512|0.00195
-chr64551487345514873CAexonicRUNX2nonsynonymous KIPAN|2|799|0.00250,KIRC|2|451|0.00443
rs768569177chr64539045745390457GAexonicRUNX2synonymous TGCT|1|155|0.00645
-chr64551456345514563GAsplicingRUNX2splicing SKCM|1|368|0.00272
rs376891808chr64545974445459744GAexonicRUNX2nonsynonymous HNSC|1|512|0.00195,PRAD|1|499|0.00200
-chr64551485545514855-GexonicRUNX2frameshift KIPAN|2|799|0.00250,KIRC|2|451|0.00443,LUAD|2|543|0.00368
-chr64551502645515026TCexonicRUNX2nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
rs751811026chr64551487245514872CTexonicRUNX2nonsynonymous SKCM|1|368|0.00272
-chr64551500845515008GAexonicRUNX2nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr64539049945390499GTexonicRUNX2synonymous SARC|1|247|0.00405
-chr64548013345480133GTexonicRUNX2nonsynonymous LUAD|1|543|0.00184
-chr64539060445390604CTexonicRUNX2synonymous STAD|1|395|0.00253,STES|1|395|0.00253
rs756072084chr64539052045390520TGexonicRUNX2synonymous LIHC|1|373|0.00268
-chr64548011545480115CTexonicRUNX2nonsynonymous GBMLGG|1|820|0.00122,LGG|1|530|0.00189
-chr64548009745480097GCexonicRUNX2nonsynonymous SKCM|1|368|0.00272
rs781003025chr64539046045390460GAexonicRUNX2synonymous ESCA|1|185|0.00541,STAD|1|395|0.00253,STES|1|395|0.00253
rs776221631chr64548006345480063TCexonicRUNX2nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr64551459145514591ATexonicRUNX2nonsynonymous ESCA|1|185|0.00541
rs545654311chr64539043045390430AGexonicRUNX2synonymous HNSC|1|512|0.00195
rs575896136chr64539046645390466AGexonicRUNX2synonymous BLCA|1|396|0.00253,GBMLGG|6|820|0.00732,HNSC|1|512|0.00195,LGG|6|530|0.01132,LIHC|3|373|0.00804,PAAD|13|185|0.07027,PCPG|1|184|0.00543,PRAD|5|499|0.01002,STAD|1|395|0.00253,STES|1|395|0.00253,THCA|2|504|0.00397,UCS|1|57|0.01754
-chr64539043245390432ACexonicRUNX2nonsynonymous LIHC|1|373|0.00268
-chr64539965945399659TAexonicRUNX2nonsynonymous ESCA|1|185|0.00541
-chr64551490645514906CTexonicRUNX2nonsynonymous UCEC|1|248|0.00403
-chr64551483745514837AGexonicRUNX2nonsynonymous LIHC|1|373|0.00268
rs774631263chr64539048245390482CGexonicRUNX2nonsynonymous DLBC|2|48|0.04167,GBMLGG|2|820|0.00244,HNSC|1|512|0.00195,LGG|2|530|0.00377,PAAD|7|185|0.03784,PRAD|1|499|0.00200,SKCM|1|368|0.00272,TGCT|4|155|0.02581,UCS|1|57|0.01754
-chr64539058145390581GTexonicRUNX2stopgain STAD|1|395|0.00253,STES|1|395|0.00253
rs748951752chr64529644545296445-AUTR5RUNX2unknown PAAD|4|185|0.02162,PCPG|1|184|0.00543
-chr64539966545399665TGexonicRUNX2nonsynonymous UCEC|1|248|0.00403
rs200992166chr64551468245514682GAexonicRUNX2synonymous GBM|1|290|0.00345,GBMLGG|1|820|0.00122
-chr64545977545459775CAexonicRUNX2synonymous HNSC|1|512|0.00195
-chr64551501645515016GAexonicRUNX2nonsynonymous LUSC|1|178|0.00562
-chr64545977445459774TCexonicRUNX2nonsynonymous UCEC|1|248|0.00403
rs745887977chr64529615545296155AGUTR5RUNX2unknown STAD|1|395|0.00253,STES|1|395|0.00253
-chr64539068545390685GAexonicRUNX2synonymous GBM|1|290|0.00345,GBMLGG|1|820|0.00122
rs369481795chr64551482545514825CTexonicRUNX2nonsynonymous BLCA|1|396|0.00253,ESCA|1|185|0.00541
-chr64551470645514706CAexonicRUNX2synonymous LUAD|1|543|0.00184
-chr64545981245459812CTexonicRUNX2nonsynonymous LUAD|1|543|0.00184
-chr64539974445399744CTexonicRUNX2nonsynonymous UCEC|1|248|0.00403
-chr64540576345405763ACexonicRUNX2synonymous LUSC|1|178|0.00562
-chr64551457245514572GTexonicRUNX2stopgain LUSC|1|178|0.00562
-chr64551491845514918-GexonicRUNX2frameshift UCEC|1|248|0.00403
rs377403216chr64551496145514961CTexonicRUNX2synonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr64540576745405767GCexonicRUNX2nonsynonymous STAD|2|395|0.00506,STES|2|395|0.00506
-chr64539035545390355C-exonicRUNX2frameshift COAD|5|367|0.01362,COADREAD|5|489|0.01022,STAD|2|395|0.00506,STES|2|395|0.00506
-chr64539046845390469AG-exonicRUNX2frameshift PAAD|1|185|0.00541
-chr64548008045480080CAexonicRUNX2synonymous LUSC|1|178|0.00562
rs748186399chr64539046945390469GAexonicRUNX2synonymous BLCA|1|396|0.00253,LIHC|1|373|0.00268,PAAD|1|185|0.00541,THCA|1|504|0.00198
-chr64548014445480144GTexonicRUNX2nonsynonymous UCEC|1|248|0.00403
rs749565421chr64548005545480055CTexonicRUNX2nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr64551485445514854CTexonicRUNX2nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr64539061045390610CGexonicRUNX2synonymous CESC|1|194|0.00515
-chr64529640445296404GAUTR5RUNX2unknown STAD|1|395|0.00253,STES|1|395|0.00253
rs535268603chr64529610145296101CTUTR5RUNX2unknown STAD|1|395|0.00253,STES|1|395|0.00253
-chr64545972645459726GTexonicRUNX2nonsynonymous LUAD|1|543|0.00184

Disease information of RUNX2
TF_name Disease_name Disease_class Disease_semantic_type TF_disease_source
RUNX2 Arthritis, Psoriatic C05;C17 Disease or Syndrome CTD_human
RUNX2 Rheumatoid Arthritis C05;C17;C20 Disease or Syndrome CTD_human
RUNX2 Cleidocranial Dysplasia C05;C16 Disease or Syndrome CTD_human;ORPHANET;UNIPROT
RUNX2 Craniosynostosis C05;C16 Disease or Syndrome GENOMICS_ENGLAND
RUNX2 Degenerative polyarthritis C05 Disease or Syndrome CTD_human
RUNX2 Osteogenesis Imperfecta C05;C16;C17 Congenital Abnormality; Disease or Syndrome GENOMICS_ENGLAND
RUNX2 Osteosarcoma C04 Neoplastic Process CTD_human
RUNX2 Tooth Abnormalities C07;C16 Anatomical Abnormality CTD_human
RUNX2 Uremia C12;C13 Disease or Syndrome CTD_human
RUNX2 Osteoarthrosis Deformans C05 Disease or Syndrome CTD_human
RUNX2 Stomatognathic System Abnormalities C07;C16 Congenital Abnormality CTD_human
RUNX2 Craniofacial Abnormalities C05;C16 Congenital Abnormality CTD_human
RUNX2 Odontome C07;C16 Congenital Abnormality CTD_human
RUNX2 Spondylarthritis C05 Disease or Syndrome CTD_human
RUNX2 Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly C05;C16;C23 Disease or Syndrome CTD_human
RUNX2 CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY C05;C07;C16 Disease or Syndrome UNIPROT
RUNX2 Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly C05;C16 Disease or Syndrome UNIPROT
RUNX2 METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY Disease or Syndrome ORPHANET
RUNX2 Intellectual Disability C10;C23;F01;F03 Mental or Behavioral Dysfunction GENOMICS_ENGLAND

Pathway associated with RUNX2
pathway_ID pathway_name pathway_source gene_number edge_number
pathway0000780 FGF signaling pathway pid 55 600
pathway0001516 Notch-mediated HES/HEY network pid 48 337
pathway0002460 YAP1- and WWTR1 (TAZ)-stimulated gene expression reactome 29 144
pathway0002725 Hs_Endochondral_Ossification_WP474_87977 wikipathways 43 117
pathway0002726 Hs_Role_of_Osx_and_miRNAs_in_tooth_development_WP3971_91525 wikipathways 9 11
pathway0002770 Hs_Bone_Morphogenic_Protein_(BMP)_Signalling_and_Regulation_WP1425_86082 wikipathways 6 10
pathway0002852 Hs_Focal_Adhesion-PI3K-Akt-mTOR-signaling_pathway_WP3932_91101 wikipathways 8 14

Go term information of RUNX2
GO_term_name GO_term_type TF_name
GO_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS BP RUNX2
GO_REGULATION_OF_CARTILAGE_DEVELOPMENT BP RUNX2
GO_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT BP RUNX2
GO_FORELIMB_MORPHOGENESIS BP RUNX2
GO_CHONDROCYTE_DEVELOPMENT BP RUNX2
GO_LEUKOCYTE_DIFFERENTIATION BP RUNX2
GO_REPLACEMENT_OSSIFICATION BP RUNX2
GO_BONE_DEVELOPMENT BP RUNX2
GO_EMBRYONIC_FORELIMB_MORPHOGENESIS BP RUNX2
GO_CELL_MATURATION BP RUNX2
GO_REGULATION_OF_FIBROBLAST_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY BP RUNX2
GO_REGULATION_OF_CHONDROCYTE_DIFFERENTIATION BP RUNX2
GO_REGULATION_OF_ODONTOGENESIS BP RUNX2
GO_NEGATIVE_REGULATION_OF_SMOOTHENED_SIGNALING_PATHWAY BP RUNX2
GO_CRANIAL_SKELETAL_SYSTEM_DEVELOPMENT BP RUNX2
GO_POSITIVE_REGULATION_OF_CARTILAGE_DEVELOPMENT BP RUNX2
GO_REGULATION_OF_SMOOTHENED_SIGNALING_PATHWAY BP RUNX2
GO_RESPONSE_TO_BMP BP RUNX2
GO_REGULATION_OF_OSTEOBLAST_DIFFERENTIATION BP RUNX2
GO_CELL_FATE_COMMITMENT BP RUNX2
GO_CONNECTIVE_TISSUE_DEVELOPMENT BP RUNX2
GO_ODONTOGENESIS_OF_DENTIN_CONTAINING_TOOTH BP RUNX2
GO_POSITIVE_REGULATION_OF_OSTEOBLAST_DIFFERENTIATION BP RUNX2
GO_OSTEOBLAST_DEVELOPMENT BP RUNX2
GO_BONE_MORPHOGENESIS BP RUNX2
GO_ENDOCHONDRAL_BONE_MORPHOGENESIS BP RUNX2
GO_POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER_INVOLVED_IN_CELLULAR_RESPONSE_TO_CHEMICAL_STIMULUS BP RUNX2
GO_POSITIVE_REGULATION_OF_CHONDROCYTE_DIFFERENTIATION BP RUNX2
GO_DEVELOPMENTAL_MATURATION BP RUNX2
GO_REGULATION_OF_ODONTOGENESIS_OF_DENTIN_CONTAINING_TOOTH BP RUNX2
GO_EMBRYONIC_CRANIAL_SKELETON_MORPHOGENESIS BP RUNX2
GO_TRANSCRIPTION_FACTOR_COMPLEX CC RUNX2
GO_BHLH_TRANSCRIPTION_FACTOR_BINDING MF RUNX2
GO_CORE_PROMOTER_BINDING MF RUNX2
GO_DOUBLE_STRANDED_DNA_BINDING MF RUNX2
GO_RNA_POLYMERASE_II_CORE_PROMOTER_SEQUENCE_SPECIFIC_DNA_BINDING MF RUNX2
GO_REPRESSING_TRANSCRIPTION_FACTOR_BINDING MF RUNX2
GO_CORE_PROMOTER_SEQUENCE_SPECIFIC_DNA_BINDING MF RUNX2

Survival analysis of RUNX2



Calculate the hazards ratio based on Cox PH Model.
Add the 95% CI as dotted line.

Expression of RUNX2