About Enhancer

Enhancer ID: E_02_0749
Species: human
Position : chr10:33492690-33519530
Biosample name:
Experiment class : Low+High throughput
Enhancer type: Enhancer
Disease: Eec syndrome
Pubmed ID:  30566872
Enhancer experiment: siRNA,ChIP-seq
Enhancer experiment description: Two clusters of active enhancers were bound by p63 . Regions in C3 showed higher p63-binding signals.nearby genes were involved in apoptosis and epidermis development. Regions in C4 had relatively lower p63-binding signals, and nearby genes were involved in keratinocyte differentiation.

About Target gene

Target gene : NRP1(BDCA4,CD304,NP1,NRP,VEGF165R)
Strong evidence: --
Less strong evidence: siRNA
Target gene experiment description: Indeed, we observed a clear decrease of H3K27ac signals at Enhancers that had higher H3K27ac signals and bound by RUNX1 in p63 mutant keratinocytes (Figure 6B; n = 6,035) in two biological replicas, such as Enhancers near NRP1, which is involved in angiogenesis .

About TF

TF name : TP63(AIS,B(p51A),B(p51B),EEC3,KET,LMS,NBP,OFC8,RHS,SHFM4,TP53CP,TP53L,TP73L,p40,p51,p53CP,p63,p73H,p73L)RUNX1(AML1,AML1-EVI-1,AMLCR1,CBF2alpha,CBFA2,EVI-1,PEBP2aB,PEBP2alpha)
TF experiment: siRNA,qRT-PCR
TF experiment description: Gene expression analysis by qRT-PCR of TP63 and RUNX1 expression in TP63 knockdown (siTP63) compared to non-targeting siRNA (siNT) in control keratinocytes.

About Function

Enhancer function : --
Enhancer function experiment: --
Enhancer function
experiment description:
--

About SNP

SNP ID: --

Upstream Pathway Annotation of TF

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
RUNX1 AndrogenReceptor netpath 167
RUNX1 Organic cation transport reactome 9
RUNX1 RANKL netpath 84
RUNX1 Regulation of nuclear SMAD2/3 signaling pid 82
RUNX1 TGF_beta_Receptor netpath 220
RUNX1 Validated transcriptional targets of deltaNp63 isoforms pid 47
RUNX1 Pathways in cancer kegg 321
RUNX1 Chronic myeloid leukemia kegg 69
RUNX1 Acute myeloid leukemia kegg 53

Enhancer associated network

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

Expression of target genes for the enhancer


Enhancer associated SNPs