About Enhancer

Enhancer ID: E_01_0231
Species: human
Position : chr9:21964977-21966977
Biosample name:
Experiment class : High+Lowthroughput
Enhancer type: Enhancer
Disease: Cancer
Pubmed ID:  31605138
Enhancer experiment: Flow cytometry,PCR,Western blot
Enhancer experiment description: The existence of genetic risk factors common to NB and CMM has been suggested by the finding of the loss of function mutation E27X in CDKN2A in melanoma families who display NB (7).

About Target gene

Target gene : --
Strong evidence: qRT-PCR,qPCR,ChIP,3C
Less strong evidence: RNA-Seq
Target gene experiment description: The existence of genetic risk factors common to NB and CMM has been suggested by the finding of the loss of function mutation E27X in CDKN2A in melanoma families who display NB (7).

About TF

TF name : CDKN2A
TF experiment: Flow cytometry,PCR,Western blot
TF experiment description: The existence of genetic risk factors common to NB and CMM has been suggested by the finding of the loss of function mutation E27X in CDKN2A in melanoma families who display NB (7).

About Function

Enhancer function : The existence of genetic risk factors common to NB and CMM has been suggested by the finding of the loss of function mutation E27X in CDKN2A in melanoma families who display NB (7).
Enhancer function experiment: Immunohistochemical staining
Enhancer function
experiment description:		 The existence of genetic risk factors common to NB and CMM has been suggested by the finding of the loss of function mutation E27X in CDKN2A in melanoma families who display NB (7).

About SNP

SNP ID: rs2153977

Upstream Pathway Annotation of TF

GeneName Pathway Name Source Gene Number
CDKN2A AP-1 transcription factor network pid 71
CDKN2A C-MYB transcription factor network pid 87
CDKN2A C-MYC pathway pid 25
CDKN2A Ci/Gli processing signaling ( Hedgehog signaling pathway ) inoh 17
CDKN2A Coregulation of Androgen receptor activity pid 61
CDKN2A Cyclin D associated events in G1 reactome 38
CDKN2A E2F transcription factor network pid 77
CDKN2A FOXM1 transcription factor network pid 43
CDKN2A Gli processing signaling ( Hedgehog signaling pathway ) inoh 15
CDKN2A Hypoxic and oxygen homeostasis regulation of HIF-1-alpha pid 19
CDKN2A Oncogene Induced Senescence reactome 30
CDKN2A Oxidative Stress Induced Senescence reactome 120
CDKN2A p53 pathway pid 59
CDKN2A Regulation of nuclear beta catenin signaling and target gene transcription pid 80
CDKN2A Regulation of retinoblastoma protein pid 67
CDKN2A Regulation of TP53 Degradation reactome 35
CDKN2A Senescence-Associated Secretory Phenotype (SASP) reactome 108
CDKN2A SUMOylation of DNA damage response and repair proteins reactome 76
CDKN2A SUMOylation of transcription factors reactome 14
CDKN2A Validated transcriptional targets of AP1 family members Fra1 and Fra2 pid 37
CDKN2A Validated transcriptional targets of deltaNp63 isoforms pid 47
CDKN2A Validated transcriptional targets of TAp63 isoforms pid 54
CDKN2A Cell cycle kegg 124
CDKN2A p53 signaling pathway kegg 66
CDKN2A Pathways in cancer kegg 321
CDKN2A Pancreatic cancer kegg 70
CDKN2A Glioma kegg 65
CDKN2A Melanoma kegg 69
CDKN2A Bladder cancer kegg 38
CDKN2A Chronic myeloid leukemia kegg 69
CDKN2A Non-small cell lung cancer kegg 54
CDKN2A Hs_Cell_Cycle_WP179_89516 wikipathways 33
CDKN2A Hs_TP53_Network_WP1742_71700 wikipathways 10
CDKN2A Hs_Apoptosis_WP254_88977 wikipathways 31
CDKN2A Hs_Senescence_and_Autophagy_in_Cancer_WP615_81193 wikipathways 62
CDKN2A Hs_Bladder_Cancer_WP2828_89143 wikipathways 17
CDKN2A Hs_Signaling_Pathways_in_Glioblastoma_WP2261_89520 wikipathways 16

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