ENdb-Search-Detail

About Enhancer

Enhancer ID:	E_01_0812
Species:	human
Position :	chr3:189628865-189630865
Biosample name:
Experiment class :	High+Lowthroughput
Enhancer type:	Enhancer
Disease:	Bladder cancer (bca)
Pubmed ID:	29956121
Enhancer experiment:	Faire, RT qPCR, statistical analysis
Enhancer experiment description:	Abstract Purpose Genome-wide association studies (GWAS) have led to the identification of a bladder cancer susceptibility variant (rs710521) in a non-coding intergenic region between the TP63 and LEPREL1 genes on chromosome 3q28, suggesting a role in the transcriptional regulation of these genes.

Target gene :	--
Strong evidence:	qRT-PCR,qPCR,ChIP,3C
Less strong evidence:	RNA-Seq
Target gene experiment description:	Abstract Purpose Genome-wide association studies (GWAS) have led to the identification of a bladder cancer susceptibility variant (rs710521) in a non-coding intergenic region between the TP63 and LEPREL1 genes on chromosome 3q28, suggesting a role in the transcriptional regulation of these genes.

TF name :	TP63(AIS,B(p51A),B(p51B),EEC3,KET,LMS,NBP,OFC8,RHS,SHFM4,TP53CP,TP53L,TP73L,p40,p51,p53CP,p63,p73H,p73L)
TF experiment:	FAIRE,RT-qPCR,????
TF experiment description:	Abstract Purpose Genome-wide association studies (GWAS) have led to the identification of a bladder cancer susceptibility variant (rs710521) in a non-coding intergenic region between the TP63 and LEPREL1 genes on chromosome 3q28, suggesting a role in the transcriptional regulation of these genes.

Enhancer function :	Abstract Purpose Genome-wide association studies (GWAS) have led to the identification of a bladder cancer susceptibility variant (rs710521) in a non-coding intergenic region between the TP63 and LEPREL1 genes on chromosome 3q28, suggesting a role in the transcriptional regulation of these genes.
Enhancer function experiment:	Immunohistochemical staining
Enhancer function experiment description:	Abstract Purpose Genome-wide association studies (GWAS) have led to the identification of a bladder cancer susceptibility variant (rs710521) in a non-coding intergenic region between the TP63 and LEPREL1 genes on chromosome 3q28, suggesting a role in the transcriptional regulation of these genes.

SNP ID:

rs710521,rs6983267

GeneName	Pathway Name	Source	Gene Number
TP63	Activation of PUMA and translocation to mitochondria	reactome	8
TP63	Direct p53 effectors	pid	141
TP63	Huntington disease	panther	113
TP63	p53 pathway by glucose deprivation	panther	21
TP63	p53 pathway	panther	39
TP63	P53 pathway feedback loops 1	panther	6
TP63	p53 pathway feedback loops 2	panther	42
TP63	p73 transcription factor network	pid	80
TP63	Regulation of TP53 Activity through Association with Co-factors	reactome	14
TP63	TP53 Regulates Metabolic Genes	reactome	85
TP63	TP53 Regulates Transcription of Caspase Activators and Caspases	reactome	12
TP63	TP53 Regulates Transcription of Death Receptors and Ligands	reactome	12
TP63	TP53 Regulates Transcription of Genes Involved in Cytochrome C Release	reactome	19
TP63	TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain	reactome	14
TP63	Validated transcriptional targets of deltaNp63 isoforms	pid	47
TP63	Validated transcriptional targets of TAp63 isoforms	pid	54
TP63	Hs_Focal_Adhesion_WP306_80308	wikipathways	26
TP63	Hs_TGF-beta_Receptor_Signaling_WP560_90187	wikipathways	28
TP63	Hs_Urea_cycle_and_metabolism_of_amino_groups_WP497_72142	wikipathways	8
TP63	Hs_Hypothetical_Craniofacial_Development_Pathway_WP3655_88473	wikipathways	5

The number on yellow line represents the distance between enhancer and target gene