TF information

TF name: PAX3
TF family: PAX
Ensembl gene ID: ENSG00000135903
Ensembl protein ID: ENSP00000386750, ENSP00000343052, ENSP00000375922, ENSP00000375921, ENSP00000338767, ENSP00000342092, ENSP00000258387, ENSP00000386817
Entrez gene ID: 5077
Database name Link Database name Link
NCBI Gene: Genecards:
Uniprot: Wikipedia:
Cosmic 3D: Geneontology:
CCLE:

Frequency of PAX3 in all biosamples
Sample ID Biosample type Tissue type Biosample name TF Frequency
Sample_02_182Cell lineHuman melanomaLOX-IMVI0.080459770114943

PAX3 distribution in samples’ most representative CRC
Sample ID Tissue type Biosample type Biosample name

PAX3 distribution in all CRCs
Biosample type
Biosample name
Sample ID

Genomic distribution of SEs associated with PAX3
Download

Mutation of PAX3
Database name Link
gnomAD: gnomAD
ExAC: ExAC
ICGC:
Database name Link
Cosmic:
Cosmic cell lines:
Depmap:

TCGA somatic mutations and clinical variants of PAX3

rsID Chr Start Stop Ref Alt Gene_region Gene_symble Effect TCGA_Occurrence
rs770087251chr2223066812223066812GAexonicPAX3nonsynonymous COAD|5|367|0.01362,COADREAD|5|489|0.01022
-chr2223084942223084942ACexonicPAX3nonsynonymous OV|1|469|0.00213
-chr2223086084223086084GTexonicPAX3nonsynonymous BLCA|1|396|0.00253
-chr2223084955223084955GTexonicPAX3synonymous LUAD|1|543|0.00184
-chr2223084911223084911G-exonicPAX3frameshift LUAD|1|543|0.00184
-chr2223161788223161788CTexonicPAX3nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr2223160324223160324TCexonicPAX3nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr2223084971223084971TAexonicPAX3nonsynonymous OV|1|469|0.00213
-chr2223084941223084941GTexonicPAX3nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr2223163256223163256GAexonicPAX3synonymous LUSC|1|178|0.00562
-chr2223158889223158889GTexonicPAX3synonymous HNSC|1|512|0.00195
-chr2223096999223096999GAexonicPAX3nonsynonymous BLCA|2|396|0.00505,HNSC|1|512|0.00195
-chr2223066886223066886GTexonicPAX3nonsynonymous LUAD|1|543|0.00184
-chr2223085957223085957GAexonicPAX3synonymous SKCM|1|368|0.00272
-chr2223084939223084939TAexonicPAX3nonsynonymous LUSC|1|178|0.00562
rs747841876chr2223086015223086015GAexonicPAX3nonsynonymous SKCM|1|368|0.00272
-chr2223161816223161816GAexonicPAX3nonsynonymous COADREAD|1|489|0.00204,READ|1|122|0.00820
-chr2223163313223163313CAexonicPAX3nonsynonymous LIHC|1|373|0.00268
rs764264033chr2223085954223085954TCexonicPAX3synonymous BLCA|1|396|0.00253
rs374429328chr2223085051223085051GAexonicPAX3synonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr2223086090223086090CTexonicPAX3nonsynonymous LAML|1|197|0.00508
-chr2223065899223065899CAexonicPAX3nonsynonymous STAD|2|395|0.00506,STES|2|395|0.00506
-chr2223096804223096804CTexonicPAX3nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
rs45607236chr2223084911223084911GAexonicPAX3nonsynonymous GBM|1|290|0.00345,GBMLGG|1|820|0.00122
-chr2223086020223086020C-exonicPAX3frameshift COAD|1|367|0.00272,COADREAD|1|489|0.00204,STAD|1|395|0.00253,STES|1|395|0.00253
-chr2223163317223163317GAexonicPAX3synonymous COADREAD|1|489|0.00204,READ|1|122|0.00820
-chr2223066851223066851GTexonicPAX3nonsynonymous LUSC|1|178|0.00562
-chr2223086019223086019-CexonicPAX3frameshift LUAD|1|543|0.00184
-chr2223160317223160317GTexonicPAX3synonymous LUAD|2|543|0.00368
-chr2223086039223086039TCexonicPAX3nonsynonymous SKCM|1|368|0.00272
rs372706630chr2223158461223158461GAexonicPAX3nonsynonymous BLCA|1|396|0.00253
-chr2223084872223084872CTexonicPAX3nonsynonymous LIHC|1|373|0.00268
rs750122824chr2223158448223158448CTexonicPAX3synonymous UCEC|1|248|0.00403
-chr2223158888223158888CTexonicPAX3nonsynonymous HNSC|1|512|0.00195
-chr2223066833223066833CGexonicPAX3nonsynonymous LIHC|1|373|0.00268
-chr2223160325223160325TCexonicPAX3nonsynonymous COAD|2|367|0.00545,COADREAD|2|489|0.00409
rs376864501chr2223085999223085999CTexonicPAX3synonymous BLCA|1|396|0.00253
rs771371167chr2223085004223085004GAexonicPAX3nonsynonymous COADREAD|1|489|0.00204,READ|1|122|0.00820
-chr2223158894223158894CTexonicPAX3nonsynonymous BRCA|1|982|0.00102
-chr2223086050223086050CTexonicPAX3synonymous STAD|1|395|0.00253,STES|1|395|0.00253
rs745673188chr2223096882223096882CTexonicPAX3nonsynonymous COADREAD|1|489|0.00204,OV|1|469|0.00213,READ|1|122|0.00820
-chr2223096869223096869TCexonicPAX3synonymous UCEC|1|248|0.00403
-chr2223158932223158932GAexonicPAX3synonymous STAD|1|395|0.00253,STES|1|395|0.00253
rs776316578chr2223158907223158907CTexonicPAX3nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr2223086046223086046CTexonicPAX3nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr2223096930223096930CTexonicPAX3nonsynonymous UCEC|1|248|0.00403
rs774528745chr2223086087223086087CTexonicPAX3nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr2223158470223158470GTexonicPAX3nonsynonymous OV|1|469|0.00213
-chr2223161825223161825GAexonicPAX3nonsynonymous SKCM|1|368|0.00272
-chr2223161771223161771CTexonicPAX3nonsynonymous UCEC|1|248|0.00403
rs753282124chr2223066132223066132CTexonicPAX3nonsynonymous LIHC|1|373|0.00268
rs142651003chr2223086025223086025CTexonicPAX3nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr2223096854223096854GCexonicPAX3nonsynonymous GBM|1|290|0.00345,GBMLGG|1|820|0.00122
-chr2223159014223159014GTexonicPAX3nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr2223161758223161758ACexonicPAX3nonsynonymous BLCA|1|396|0.00253
rs372190620chr2223085988223085988GAexonicPAX3nonsynonymous PRAD|1|499|0.00200,STAD|1|395|0.00253,STES|1|395|0.00253
-chr2223161715223161715GAexonicPAX3synonymous BLCA|1|396|0.00253
-chr2223158954223158954TCexonicPAX3nonsynonymous BLCA|1|396|0.00253
rs747070982chr2223158459223158459CTexonicPAX3nonsynonymous BLCA|1|396|0.00253
-chr2223086093223086093TCexonicPAX3nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr2223096997223096997CTexonicPAX3nonsynonymous STAD|2|395|0.00506,STES|2|395|0.00506
-chr2223085966223085966AGexonicPAX3synonymous LUSC|1|178|0.00562
-chr2223066808223066808CAexonicPAX3synonymous KIPAN|1|799|0.00125,KIRC|1|451|0.00222
-chr2223161736223161736GTexonicPAX3synonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr2223160265223160265GAexonicPAX3stopgain COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr2223096856223096856CAexonicPAX3nonsynonymous LUAD|1|543|0.00184
-chr2223161786223161786CTexonicPAX3nonsynonymous HNSC|1|512|0.00195
-chr2223160331223160331TCexonicPAX3nonsynonymous GBMLGG|1|820|0.00122,LGG|1|530|0.00189
-chr2223161757223161757CAexonicPAX3synonymous BLCA|1|396|0.00253
rs199847426chr2223086014223086014AGexonicPAX3synonymous BRCA|1|982|0.00102,LIHC|1|373|0.00268
-chr2223085987223085987CGexonicPAX3synonymous LUSC|1|178|0.00562
-chr2223161823223161823GTexonicPAX3nonsynonymous HNSC|1|512|0.00195
-chr2223160256223160256CTexonicPAX3nonsynonymous BRCA|1|982|0.00102,COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr2223160343223160343CTexonicPAX3nonsynonymous CESC|1|194|0.00515
-chr2223066781223066781GCexonicPAX3nonsynonymous KIPAN|1|799|0.00125,KIRC|1|451|0.00222
-chr2223086070223086070GAexonicPAX3stopgain COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr2223161887223161887AGexonicPAX3nonsynonymous SKCM|1|368|0.00272
-chr2223086063223086063CTexonicPAX3nonsynonymous BLCA|1|396|0.00253
-chr2223066836223066836GAexonicPAX3nonsynonymous STAD|2|395|0.00506,STES|2|395|0.00506
-chr2223084972223084972AGexonicPAX3nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
rs551614431chr2223085034223085034GAexonicPAX3nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr2223161826223161826GAexonicPAX3synonymous SKCM|1|368|0.00272
-chr2223161877223161877GTexonicPAX3nonsynonymous CHOL|1|35|0.02857
-chr2223158908223158908GAexonicPAX3synonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr2223085040223085040GTexonicPAX3nonsynonymous LUAD|1|543|0.00184
-chr2223066670223066670AGexonicPAX3synonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr2223084957223084957TGexonicPAX3nonsynonymous UCEC|1|248|0.00403
-chr2223096870223096870CAexonicPAX3nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204,STAD|1|395|0.00253,STES|1|395|0.00253
rs780660984chr2223065952223065952GCexonicPAX3nonsynonymous BLCA|1|396|0.00253
-chr2223158874223158874GCexonicPAX3nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr2223066780223066780GCexonicPAX3nonsynonymous LUAD|1|543|0.00184
-chr2223096823223096823CGexonicPAX3nonsynonymous LUAD|1|543|0.00184
-chr2223086078223086078CAexonicPAX3nonsynonymous LUSC|1|178|0.00562
rs147111779chr2223066853223066853GAexonicPAX3synonymous COAD|2|367|0.00545,COADREAD|2|489|0.00409,UCEC|1|248|0.00403
-chr2223161726223161726GAexonicPAX3nonsynonymous SKCM|1|368|0.00272
-chr2223066658223066658CTexonicPAX3synonymous KIPAN|2|799|0.00250,KIRC|2|451|0.00443
-chr2223096987223096987GCexonicPAX3stopgain BLCA|1|396|0.00253
-chr2223158868223158868CGexonicPAX3nonsynonymous LUAD|1|543|0.00184
rs763098498chr2223085952223085952GTexonicPAX3nonsynonymous PRAD|1|499|0.00200
rs528350431chr2223066834223066834CTexonicPAX3nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204,KICH|1|66|0.01515,KIPAN|1|799|0.00125
-chr2223160324223160324TGexonicPAX3nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr2223158469223158469GCexonicPAX3synonymous LUAD|2|543|0.00368
-chr2223066722223066722CAexonicPAX3nonsynonymous UCEC|1|248|0.00403
-chr2223161823223161823GAexonicPAX3synonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr2223084905223084905GTexonicPAX3nonsynonymous LUAD|4|543|0.00737
-chr2223160315223160315AGexonicPAX3nonsynonymous PRAD|1|499|0.00200
-chr2223066840223066840GCexonicPAX3nonsynonymous HNSC|1|512|0.00195
-chr2223066777223066777TCexonicPAX3nonsynonymous LUAD|1|543|0.00184
-chr2223158986223158986GAexonicPAX3synonymous CESC|1|194|0.00515
rs770658594chr2223065931223065931CTexonicPAX3nonsynonymous PRAD|1|499|0.00200
-chr2223160251223160251CTexonicPAX3synonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr2223163270223163270CAexonicPAX3nonsynonymous HNSC|1|512|0.00195
-chr2223161908223161908CTexonicPAX3nonsynonymous COAD|1|367|0.00272,COADREAD|1|489|0.00204
-chr2223084885223084885TGexonicPAX3nonsynonymous BRCA|1|982|0.00102
-chr2223086091223086091GTexonicPAX3nonsynonymous LUAD|1|543|0.00184
-chr2223066140223066140GTexonicPAX3nonsynonymous ESCA|1|185|0.00541,LUSC|1|178|0.00562
-chr2223161799223161799CTexonicPAX3synonymous GBM|1|290|0.00345,GBMLGG|1|820|0.00122
-chr2223159003223159003TCexonicPAX3nonsynonymous PRAD|1|499|0.00200
-chr2223158949223158949TCexonicPAX3nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr2223158477223158477CAsplicingPAX3splicing LUAD|1|543|0.00184
-chr2223161789223161789GAexonicPAX3nonsynonymous BLCA|1|396|0.00253
-chr2223065949223065949TCexonicPAX3nonsynonymous BRCA|1|982|0.00102
-chr2223084945223084945ATexonicPAX3nonsynonymous UCEC|1|248|0.00403
-chr2223086027223086027GTexonicPAX3nonsynonymous LIHC|1|373|0.00268
rs746069520chr2223066811223066811CTexonicPAX3synonymous HNSC|1|512|0.00195
-chr2223161818223161818AGexonicPAX3nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr2223160330223160330CGexonicPAX3nonsynonymous CESC|1|194|0.00515
-chr2223066673223066673CTexonicPAX3synonymous KIPAN|1|799|0.00125,KIRP|1|282|0.00355
-chr2223086085223086085CTexonicPAX3nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr2223160323223160323GCexonicPAX3nonsynonymous OV|1|469|0.00213
-chr2223161807223161807CTexonicPAX3nonsynonymous STAD|1|395|0.00253,STES|1|395|0.00253
-chr2223066892223066892GAexonicPAX3synonymous GBM|1|290|0.00345,GBMLGG|1|820|0.00122
rs549206921chr2223066852223066852CTexonicPAX3nonsynonymous GBM|1|290|0.00345,GBMLGG|1|820|0.00122,STAD|1|395|0.00253,STES|1|395|0.00253
-chr2223066865223066865GTexonicPAX3synonymous LIHC|1|373|0.00268

Disease information of PAX3
TF_name Disease_name Disease_class Disease_semantic_type TF_disease_source
PAX3 Prelingual Deafness C09;C10;C23 Disease or Syndrome CTD_human
PAX3 Deafness C09;C10;C23 Finding CTD_human
PAX3 Diastematomyelia C10;C16 Congenital Abnormality CTD_human
PAX3 Congenital Hand Deformities C05;C16 Congenital Abnormality CTD_human
PAX3 Neural Tube Defects C10;C16 Congenital Abnormality CTD_human
PAX3 Neurenteric Cyst C10;C16 Congenital Abnormality CTD_human
PAX3 Osteogenesis Imperfecta C05;C16;C17 Congenital Abnormality; Disease or Syndrome GENOMICS_ENGLAND
PAX3 Status Dysraphicus C10;C16 Congenital Abnormality CTD_human
PAX3 Klein's Syndrome C16 Disease or Syndrome CTD_human;ORPHANET;UNIPROT
PAX3 Spina Bifida C10;C16 Congenital Abnormality CTD_human
PAX3 Tethered Cord Syndrome C10;C16 Disease or Syndrome CTD_human
PAX3 Hearing Loss, Extreme C09;C10;C23 Sign or Symptom CTD_human
PAX3 Iniencephaly C10;C16 Congenital Abnormality CTD_human
PAX3 Craniorachischisis C10;C16 Congenital Abnormality CTD_human
PAX3 Sarcoma, Epithelioid C04 Neoplastic Process CTD_human
PAX3 Sarcoma, Spindle Cell C04 Neoplastic Process CTD_human
PAX3 Alveolar rhabdomyosarcoma C04 Neoplastic Process CTD_human;ORPHANET
PAX3 Cranioschisis C10;C16 Congenital Abnormality CTD_human
PAX3 Exencephaly C10;C16 Congenital Abnormality CTD_human
PAX3 Rachischisis C10;C16 Congenital Abnormality CTD_human
PAX3 Spinal Cord Myelodysplasia C10;C16 Congenital Abnormality CTD_human
PAX3 Craniofacial Abnormalities C05;C16 Congenital Abnormality CTD_human
PAX3 Congenital neurologic anomalies C10;C16 Congenital Abnormality CTD_human
PAX3 Complete Hearing Loss C09;C10;C23 Finding CTD_human
PAX3 Waardenburg Anophthalmia Syndrome C16 Disease or Syndrome ORPHANET
PAX3 Acrania C10;C16 Congenital Abnormality CTD_human
PAX3 Deafness, Acquired C09;C10;C23 Disease or Syndrome CTD_human
PAX3 Sarcoma C04 Neoplastic Process CTD_human
PAX3 Sinonasal undifferentiated carcinoma C04;C08;C09 Neoplastic Process CTD_human
PAX3 Waardenburg Syndrome Type 1 C16 Disease or Syndrome CTD_human;ORPHANET;UNIPROT
PAX3 Craniofacial deafness hand syndrome C05;C09;C10;C16;C23 Disease or Syndrome CTD_human;ORPHANET;UNIPROT
PAX3 Waardenburg Syndrome C16 Disease or Syndrome CTD_human
PAX3 Bilateral Deafness C09;C10;C23 Finding CTD_human
PAX3 Intellectual Disability C10;C23;F01;F03 Mental or Behavioral Dysfunction GENOMICS_ENGLAND
PAX3 Deaf Mutism C09;C10;C23 Disease or Syndrome CTD_human

Pathway associated with PAX3
pathway_ID pathway_name pathway_source gene_number edge_number
pathway0002747 Hs_Neural_Crest_Differentiation_WP2064_79263 wikipathways 40 129
pathway0002841 Hs_Ectoderm_Differentiation_WP2858_89329 wikipathways 56 137

Go term information of PAX3
GO_term_name GO_term_type TF_name
GO_EPITHELIAL_TO_MESENCHYMAL_TRANSITION BP PAX3
GO_MESENCHYMAL_CELL_DIFFERENTIATION BP PAX3
GO_HMG_BOX_DOMAIN_BINDING MF PAX3

Survival analysis of PAX3



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

Expression of PAX3