About Enhancer

Enhancer ID: E_02_0200
Species: human
Position : chr3:69736600-69738600
Biosample name:
Experiment class : High+Lowthroughput
Enhancer type: Enhancer
Disease: Melanoma
Pubmed ID:  31562697
Enhancer experiment: PCR, Western blot, immunofluorescence staining
Enhancer experiment description: MITF, a gene that is mutated in familial melanoma and Waardenburg syndrome, en_x0002_codes multiple isoforms expressed from alternative promoters that share common coding exons but have unique amino termini.

About Target gene

Target gene : MITF(CMM8,COMMAD,MI,WS2,WS2A,bHLHe32),TYR
Strong evidence: qRT-PCR,qPCR,ChIP,3C
Less strong evidence: RNA-Seq
Target gene experiment description: MITF, a gene that is mutated in familial melanoma and Waardenburg syndrome, en_x0002_codes multiple isoforms expressed from alternative promoters that share common coding exons but have unique amino termini.;We previously showed that 9?cis retinoic acid upregulates MITF and TYR expression in cultured melanocytes, stimulating pigment production in melano_x0002_cyte and melanoma cell lines (Paterson, Ho, Kapadia, & Ganesan, 2013).

About TF

TF name : --
TF experiment: PCR,Western blot,??????
TF experiment description: MITF, a gene that is mutated in familial melanoma and Waardenburg syndrome, en_x0002_codes multiple isoforms expressed from alternative promoters that share common coding exons but have unique amino termini.;We previously showed that 9?cis retinoic acid upregulates MITF and TYR expression in cultured melanocytes, stimulating pigment production in melano_x0002_cyte and melanoma cell lines (Paterson, Ho, Kapadia, & Ganesan, 2013).

About Function

Enhancer function : MITF, a gene that is mutated in familial melanoma and Waardenburg syndrome, en_x0002_codes multiple isoforms expressed from alternative promoters that share common coding exons but have unique amino termini.
Enhancer function experiment: Immunohistochemical staining
Enhancer function
experiment description:
MITF, a gene that is mutated in familial melanoma and Waardenburg syndrome, en_x0002_codes multiple isoforms expressed from alternative promoters that share common coding exons but have unique amino termini.

About SNP

SNP ID: --

Upstream Pathway Annotation of TF

GeneName Pathway Name Source Gene Number

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