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 |
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. |
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. |
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 |
SNP ID: | rs9927317 |
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 |