About Enhancer

Enhancer ID: E_01_0273
Species: human
Position : chr16:53698982-53700982
Biosample name:
Experiment class : High+Lowthroughput
Enhancer type: Enhancer
Disease: Obesity
Pubmed ID:  31530225
Enhancer experiment: Flow cytometry
Enhancer experiment description: FTO encodes an ortholog to the AlkB family of enzymes that demethylate nucleic acids

About Target gene

Target gene : FTO,RPGRIP1L,IRX3,IRX5
Strong evidence: qRT-PCR,qPCR,ChIP,3C
Less strong evidence: RNA-Seq
Target gene experiment description: FTO encodes an ortholog to the AlkB family of enzymes that demethylate nucleic acids;The first intronic region of FTO is less than 100 bp 3 from the transcriptional start site of the gene Retinitis Pigmentosa GTPase Regulator-Interacting Protein-1 Like (RPGRIP1L), a ciliary gene (24, 56) that is transcribed in the 5 direction.;We previously showed that rs8050136 resides within a putative binding site for the transcription factor Cut-like Homeobox 1 (CUX1) (46), which regulates expression of FTO and RPGRIP1L (43, 44).;Other groups have shown that rs9930506 is associated with expression of IRX3 in the brain (39), as well as expression of both IRX3 and IRX5 in adipose tissue (7), with apparent biological relevance conveyed by physical interactions (chromosome conformation) with these genes promoters, although the resolution of this chromatin interaction data was not sufficient to detect (or rule out) interactions with RPGRIP1L.;Other groups have shown that rs9930506 is associated with expression of IRX3 in the brain (39), as well as expression of both IRX3 and IRX5 in adipose tissue (7), with apparent biological relevance conveyed by physical interactions (chromosome conformation) with these genes promoters, although the resolution of this chromatin interaction data was not sufficient to detect (or rule out) interactions with RPGRIP1L.

About TF

TF name : CUX1
TF experiment: Flow cytometry
TF experiment description: FTO encodes an ortholog to the AlkB family of enzymes that demethylate nucleic acids;The first intronic region of FTO is less than 100 bp 3 from the transcriptional start site of the gene Retinitis Pigmentosa GTPase Regulator-Interacting Protein-1 Like (RPGRIP1L), a ciliary gene (24, 56) that is transcribed in the 5 direction.;We previously showed that rs8050136 resides within a putative binding site for the transcription factor Cut-like Homeobox 1 (CUX1) (46), which regulates expression of FTO and RPGRIP1L (43, 44).;Other groups have shown that rs9930506 is associated with expression of IRX3 in the brain (39), as well as expression of both IRX3 and IRX5 in adipose tissue (7), with apparent biological relevance conveyed by physical interactions (chromosome conformation) with these genes promoters, although the resolution of this chromatin interaction data was not sufficient to detect (or rule out) interactions with RPGRIP1L.;Other groups have shown that rs9930506 is associated with expression of IRX3 in the brain (39), as well as expression of both IRX3 and IRX5 in adipose tissue (7), with apparent biological relevance conveyed by physical interactions (chromosome conformation) with these genes promoters, although the resolution of this chromatin interaction data was not sufficient to detect (or rule out) interactions with RPGRIP1L.

About Function

Enhancer function : FTO encodes an ortholog to the AlkB family of enzymes that demethylate nucleic acids
Enhancer function experiment: Immunohistochemical staining
Enhancer function
experiment description:
FTO encodes an ortholog to the AlkB family of enzymes that demethylate nucleic acids

About SNP

SNP ID: rs9927317

Upstream Pathway Annotation of TF

GeneName Pathway Name Source Gene Number
CUX1 Intra-Golgi traffic reactome 44
CUX1 Signaling by cytosolic FGFR1 fusion mutants reactome 18
CUX1 Signaling by FGFR1 in disease reactome 33

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