Hs06950394_cn

• Gene Symbol: NR1H4
• Assay Reference Genome Location: Chr.12:100500300 on build GRCh38
• Cytoband: 12q23.1

Target Gene Details

• Entrez Gene ID: 9971
• Gene Name: nuclear receptor subfamily 1 group H member 4
• Gene Aliases: BAR, FXR, HRR-1, HRR1, RIP14
• Location: Chr.12:100473773-100563867 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NR1H4	NM_001206977.1			NP_001193906.1
	NM_001206978.1			NP_001193907.1
	NM_001206979.1			NP_001193908.1
	NM_005123.3			NP_005114.1
	NR_135146.1
	XM_011539040.2			XP_011537342.1
	AB307699.1
	AF384555.1			AAK60271.1
	AK312959.1
	BC130573.1
	BC144184.1
	HQ709175.1
	U68233.1			AAB08107.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv559995	Chr.12:100487230 - 100542549 on Build GRCh38	Loss	NR1H4
nsv559964	Chr.12:99872025 - 100538490 on Build GRCh38	Gain	ACTR6 SCYL2 NR1H4 DEPDC4 ANKS1B GOLGA2P5 MIR1827 SLC17A8 UHRF1BP1L

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
nitrogen catabolite activation of transcription from RNA polymerase II promoter
regulation of carbohydrate metabolic process
transcription initiation from RNA polymerase II promoter
inflammatory response
signal transduction
Notch signaling pathway
bile acid metabolic process
response to glucose
regulation of low-density lipoprotein particle clearance
bile acid and bile salt transport
intracellular receptor signaling pathway
response to lipopolysaccharide
toll-like receptor 4 signaling pathway
regulation of urea metabolic process
histone H3-R17 methylation
cellular triglyceride homeostasis
bile acid signaling pathway
intracellular bile acid receptor signaling pathway
negative regulation of apoptotic process
negative regulation of I-kappaB kinase/NF-kappaB signaling
steroid hormone mediated signaling pathway
innate immune response
positive regulation of transcription from RNA polymerase II promoter
digestive tract development
regulation of insulin secretion involved in cellular response to glucose stimulus
regulation of bile acid biosynthetic process
negative regulation of bile acid biosynthetic process
cellular response to fatty acid
cellular response to organonitrogen compound
interleukin-17 secretion
regulation of cholesterol metabolic process
negative regulation of interferon-gamma secretion
negative regulation of tumor necrosis factor secretion
positive regulation of glutamate metabolic process
positive regulation of ammonia assimilation cycle

Function(s)

RNA polymerase II distal enhancer sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
transcriptional activator activity, RNA polymerase II transcription factor binding
transcription factor activity, sequence-specific DNA binding
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
steroid hormone receptor activity
transcription coactivator activity
transcription corepressor activity
RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding
thyroid hormone receptor activity
protein binding
zinc ion binding
ligand-dependent nuclear receptor binding
bile acid binding
bile acid receptor activity
peptide binding
sequence-specific DNA binding
retinoid X receptor binding
chenodeoxycholic acid binding