Cancer CRCdb

Sample ID	Biosample type	Tissue type	Biosample name	TF Frequency
Sample_02_227	Cell line	Oesophagus	TE7	0.24

Database name	Link
gnomAD:	gnomAD
ExAC:	ExAC
ICGC:

Database name	Link
Cosmic:
Cosmic cell lines:
Depmap:

TCGA somatic mutations and clinical variants of PAX9

rsID	Chr	Start	Stop	Ref	Alt	Gene_region	Gene_symble	Effect	TCGA_Occurrence
-	chr14	37135651	37135651	C	T	intronic	PAX9	unknown	CESC\|1\|194\|0.00515
-	chr14	37132609	37132609	C	T	exonic	PAX9	nonsynonymous	KIPAN\|1\|799\|0.00125,KIRC\|1\|451\|0.00222
rs748361932	chr14	37132420	37132420	C	T	exonic	PAX9	nonsynonymous	COAD\|1\|367\|0.00272,COADREAD\|1\|489\|0.00204
rs563731743	chr14	37145597	37145597	G	A	exonic	PAX9	synonymous	STAD\|1\|395\|0.00253,STES\|1\|395\|0.00253
-	chr14	37132270	37132270	C	T	exonic	PAX9	nonsynonymous	STAD\|1\|395\|0.00253,STES\|1\|395\|0.00253
-	chr14	37135774	37135774	G	A	exonic	PAX9	nonsynonymous	SKCM\|1\|368\|0.00272
rs370909756	chr14	37132621	37132621	C	T	exonic	PAX9	nonsynonymous	STAD\|2\|395\|0.00506,STES\|2\|395\|0.00506
-	chr14	37132689	37132689	G	A	exonic	PAX9	nonsynonymous	PAAD\|1\|185\|0.00541
-	chr14	37132272	37132272	C	T	exonic	PAX9	stopgain	PAAD\|1\|185\|0.00541
-	chr14	37145638	37145638	T	A	exonic	PAX9	nonsynonymous	COAD\|1\|367\|0.00272,COADREAD\|1\|489\|0.00204
rs776496826	chr14	37132207	37132207	T	C	exonic	PAX9	nonsynonymous	STAD\|1\|395\|0.00253,STES\|1\|395\|0.00253
-	chr14	37132275	37132275	T	C	exonic	PAX9	nonsynonymous	STAD\|1\|395\|0.00253,STES\|1\|395\|0.00253
-	chr14	37132174	37132174	G	A	exonic	PAX9	nonsynonymous	COAD\|1\|367\|0.00272,COADREAD\|1\|489\|0.00204
-	chr14	37132577	37132577	C	A	exonic	PAX9	stopgain	HNSC\|1\|512\|0.00195
-	chr14	37131029	37131029	C	T	UTR5	PAX9	unknown	SARC\|1\|247\|0.00405
rs143020311	chr14	37132608	37132608	G	A	exonic	PAX9	nonsynonymous	STAD\|1\|395\|0.00253,STES\|1\|395\|0.00253
-	chr14	37145492	37145492	G	C	exonic	PAX9	nonsynonymous	LUSC\|1\|178\|0.00562
-	chr14	37145591	37145591	G	T	exonic	PAX9	synonymous	UCEC\|1\|248\|0.00403
-	chr14	37132541	37132541	G	A	exonic	PAX9	synonymous	COAD\|1\|367\|0.00272,COADREAD\|1\|489\|0.00204
-	chr14	37132439	37132439	G	A	exonic	PAX9	synonymous	STAD\|2\|395\|0.00506,STES\|2\|395\|0.00506
-	chr14	37132260	37132266	AAGATCC	-	exonic	PAX9	frameshift	HNSC\|1\|512\|0.00195
rs772970706	chr14	37132490	37132490	C	A	exonic	PAX9	synonymous	STAD\|1\|395\|0.00253,STES\|1\|395\|0.00253
-	chr14	37126056	37126056	C	-	upstream	PAX9	unknown	LUAD\|1\|543\|0.00184
rs752908209	chr14	37132411	37132411	G	A	exonic	PAX9	nonsynonymous	COAD\|1\|367\|0.00272,COADREAD\|1\|489\|0.00204
-	chr14	37132197	37132197	C	T	exonic	PAX9	stopgain	STAD\|1\|395\|0.00253,STES\|1\|395\|0.00253
-	chr14	37145547	37145547	G	-	exonic	PAX9	frameshift	STAD\|1\|395\|0.00253,STES\|1\|395\|0.00253
rs866470249	chr14	37145457	37145457	C	T	exonic	PAX9	nonsynonymous	SKCM\|1\|368\|0.00272
rs771366081	chr14	37145590	37145590	C	T	exonic	PAX9	nonsynonymous	LUAD\|1\|543\|0.00184
rs375546483	chr14	37132434	37132434	G	A	exonic	PAX9	nonsynonymous	BLCA\|1\|396\|0.00253
-	chr14	37145611	37145611	A	G	exonic	PAX9	nonsynonymous	SARC\|1\|247\|0.00405
-	chr14	37135761	37135761	C	T	exonic	PAX9	synonymous	ACC\|1\|90\|0.01111
-	chr14	37132606	37132606	C	T	exonic	PAX9	nonsynonymous	STAD\|1\|395\|0.00253,STES\|1\|395\|0.00253
-	chr14	37132662	37132662	C	T	exonic	PAX9	nonsynonymous	PRAD\|1\|499\|0.00200
-	chr14	37135670	37135670	G	A	exonic	PAX9	nonsynonymous	STAD\|1\|395\|0.00253,STES\|1\|395\|0.00253
-	chr14	37132540	37132540	C	T	exonic	PAX9	nonsynonymous	OV\|1\|469\|0.00213
-	chr14	37132240	37132240	T	C	exonic	PAX9	nonsynonymous	STAD\|1\|395\|0.00253,STES\|1\|395\|0.00253
-	chr14	37132336	37132336	C	T	exonic	PAX9	nonsynonymous	COAD\|1\|367\|0.00272,COADREAD\|1\|489\|0.00204
-	chr14	37132354	37132354	A	C	exonic	PAX9	nonsynonymous	SKCM\|1\|368\|0.00272
-	chr14	37131030	37131030	C	T	UTR5	PAX9	unknown	SARC\|1\|247\|0.00405
-	chr14	37145475	37145475	C	T	exonic	PAX9	stopgain	BLCA\|1\|396\|0.00253
-	chr14	37135796	37135796	A	G	exonic	PAX9	nonsynonymous	BRCA\|1\|982\|0.00102
-	chr14	37145538	37145538	C	T	exonic	PAX9	stopgain	PRAD\|1\|499\|0.00200
-	chr14	37132396	37132396	G	A	exonic	PAX9	stopgain	GBMLGG\|1\|820\|0.00122,LGG\|1\|530\|0.00189
-	chr14	37145652	37145652	C	G	exonic	PAX9	nonsynonymous	BRCA\|1\|982\|0.00102
-	chr14	37132591	37132591	C	T	exonic	PAX9	nonsynonymous	STAD\|1\|395\|0.00253,STES\|1\|395\|0.00253
-	chr14	37132658	37132658	C	T	exonic	PAX9	synonymous	SKCM\|1\|368\|0.00272
-	chr14	37132657	37132657	C	T	exonic	PAX9	nonsynonymous	SKCM\|1\|368\|0.00272
-	chr14	37132243	37132243	C	T	exonic	PAX9	nonsynonymous	BLCA\|1\|396\|0.00253
-	chr14	37132112	37132112	C	T	exonic	PAX9	synonymous	LUSC\|1\|178\|0.00562
-	chr14	37145495	37145495	C	T	exonic	PAX9	synonymous	UCEC\|1\|248\|0.00403
-	chr14	37132701	37132701	C	A	exonic	PAX9	nonsynonymous	COAD\|1\|367\|0.00272,COADREAD\|1\|489\|0.00204
-	chr14	37145441	37145441	-	C	exonic	PAX9	frameshift	KIPAN\|2\|799\|0.00250,KIRC\|2\|451\|0.00443
-	chr14	37145435	37145435	T	A	exonic	PAX9	nonsynonymous	SKCM\|1\|368\|0.00272
-	chr14	37132476	37132476	C	T	exonic	PAX9	synonymous	BLCA\|1\|396\|0.00253
-	chr14	37132287	37132287	G	A	exonic	PAX9	nonsynonymous	STAD\|1\|395\|0.00253,STES\|1\|395\|0.00253
rs755740078	chr14	37145483	37145483	G	A	exonic	PAX9	synonymous	STAD\|1\|395\|0.00253,STES\|1\|395\|0.00253,UCEC\|1\|248\|0.00403
-	chr14	37132593	37132593	A	G	exonic	PAX9	nonsynonymous	LUSC\|1\|178\|0.00562
-	chr14	37145436	37145436	G	A	exonic	PAX9	nonsynonymous	SKCM\|1\|368\|0.00272
-	chr14	37145462	37145462	C	T	exonic	PAX9	synonymous	SKCM\|1\|368\|0.00272
-	chr14	37132444	37132444	A	G	exonic	PAX9	nonsynonymous	PRAD\|1\|499\|0.00200
-	chr14	37145561	37145561	G	T	exonic	PAX9	nonsynonymous	SKCM\|1\|368\|0.00272
-	chr14	37132535	37132535	C	A	exonic	PAX9	nonsynonymous	PAAD\|1\|185\|0.00541
-	chr14	37131038	37131038	G	A	UTR5	PAX9	unknown	ESCA\|1\|185\|0.00541
-	chr14	37131133	37131133	C	T	UTR5	PAX9	unknown	CESC\|1\|194\|0.00515
-	chr14	37132384	37132384	G	A	exonic	PAX9	nonsynonymous	LIHC\|1\|373\|0.00268
-	chr14	37132112	37132112	C	A	exonic	PAX9	nonsynonymous	LUAD\|1\|543\|0.00184

TF name:	PAX9
TF family:	PAX
Ensembl gene ID:	ENSG00000198807
Ensembl protein ID:	ENSP00000355245, ENSP00000384817
Entrez gene ID:	5083

Database name	Link	Database name	Link
NCBI Gene:		Genecards:
Uniprot:		Wikipedia:
Cosmic 3D:		Geneontology:
CCLE:

TF_name	Disease_name	Disease_class	Disease_semantic_type	TF_disease_source
PAX9	Hypodontia	C07;C16	Congenital Abnormality	ORPHANET
PAX9	Tooth Agenesis, Selective, 3	C07;C16	Disease or Syndrome	CTD_human;UNIPROT
PAX9	Intellectual Disability	C10;C23;F01;F03	Mental or Behavioral Dysfunction	GENOMICS_ENGLAND
PAX9	Oligodontia		Congenital Abnormality	ORPHANET

GO_term_name	GO_term_type	TF_name
GO_BODY_MORPHOGENESIS	BP	PAX9
GO_FACE_DEVELOPMENT	BP	PAX9
GO_REGULATION_OF_ODONTOGENESIS	BP	PAX9
GO_REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS	BP	PAX9
GO_ODONTOGENESIS	BP	PAX9
GO_HEAD_MORPHOGENESIS	BP	PAX9
GO_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY_SEQUENCE_SPECIFIC_DNA_BINDING	MF	PAX9

TF information

TCGA somatic mutations and clinical variants of PAX9

Survival analysis of PAX9

Expression of PAX9