Hs04114963_cn

• Gene Symbol: FOXP3
• Assay Reference Genome Location: Chr.X:49252308 on build GRCh38
• Cytoband: Xp11.23

Target Gene Details

• Entrez Gene ID: 50943
• Gene Name: forkhead box P3
• Gene Aliases: AIID, DIETER, IPEX, JM2, PIDX, XPID
• Location: Chr.X:49250436-49266505 on Build GRCh38
• Assay Gene Location: Within Intron 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FOXP3	NM_001114377.1			NP_001107849.1
	NM_014009.3			NP_054728.2
	XM_006724533.2			XP_006724596.2
	XM_011543916.2			XP_011542218.1
	XM_017029565.1			XP_016885054.1
	XM_017029566.1			XP_016885055.1
	XM_017029567.1			XP_016885056.1
	AF277993.1			AAG53607.1
	AJ005891.1			CAA06748.1
	AK292052.1
	AK299988.1
	BC113401.1
	BC113403.1
	BC143785.1
	BC143786.1
	DQ010327.1			AAY27088.1
	EF534714.1
	EU855812.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv471602	Chr.X:49205142 - 49320261 on Build GRCh38	Gain	PPP1R3F GAGE10 FOXP3 CACNA1F CCDC22
nsv528292	Chr.X:48433286 - 49274368 on Build GRCh38	Gain	CCDC120 SYP CACNA1F WAS OTUD5 SUV39H1 GPKOW FTSJ1 TBC1D25 SYP-AS1 ERAS PRAF2 PQBP1 HDAC6 PORCN CCDC22 SLC38A5 FOXP3 PCSK1N MAGIX GLOD5 LOC101927635 PLP2 EBP TFE3 PPP1R3F SLC35A2 GATA1 GRIPAP1 WDR13 TIMM17B RBM3 PRICKLE3 KCND1 PIM2 WDR45
esv32909	Chr.X:48003374 - 49285646 on Build GRCh38	Gain+Loss	CCDC120 SYP CACNA1F WAS SPACA5B OTUD5 SUV39H1 GPKOW FTSJ1 SSX1 SSX4B TBC1D25 SYP-AS1 ERAS SSX6 PRAF2 PQBP1 HDAC6 PORCN CCDC22 SSX5 SLC38A5 FOXP3 PCSK1N SSX9 SPACA5 MAGIX GLOD5 ZNF630 LOC101927635 PLP2 EBP TFE3 PPP1R3F SLC35A2 GATA1 GRIPAP1 ZNF182 WDR13 TIMM17B RBM3 PRICKLE3 KCND1 PIM2 ZNF630-AS1 SSX4 WDR45 SSX3
esv21578	Chr.X:49251822 - 49253132 on Build GRCh38	Gain	FOXP3
nsv469734	Chr.X:49205141 - 49320261 on Build GRCh38	Gain+Loss	PPP1R3F GAGE10 FOXP3 CACNA1F CCDC22
nsv6895	Chr.X:49227319 - 49262690 on Build GRCh38	Insertion	FOXP3 CACNA1F CCDC22

More Information

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

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
B cell homeostasis
cytokine production
myeloid cell homeostasis
CD4-positive, CD25-positive, alpha-beta regulatory T cell lineage commitment
T cell mediated immunity
tolerance induction to self antigen
regulation of T cell anergy
positive regulation of T cell anergy
negative regulation of chronic inflammatory response
negative regulation of T cell cytokine production
positive regulation of peripheral T cell tolerance induction
chromatin remodeling
transcription, DNA-templated
regulation of transcription, DNA-templated
negative regulation of cell proliferation
response to virus
negative regulation of histone deacetylation
negative regulation of NF-kappaB transcription factor activity
negative regulation of interferon-gamma production
negative regulation of interleukin-10 production
negative regulation of interleukin-17 production
negative regulation of interleukin-2 production
negative regulation of interleukin-4 production
negative regulation of interleukin-5 production
negative regulation of interleukin-6 production
negative regulation of tumor necrosis factor production
positive regulation of interleukin-4 production
negative regulation of CREB transcription factor activity
positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation
positive regulation of transforming growth factor beta1 production
positive regulation of immature T cell proliferation in thymus
positive regulation of histone acetylation
negative regulation of histone acetylation
negative regulation of cytokine biosynthetic process
T cell activation
negative regulation of T cell proliferation
T cell homeostasis
negative regulation of sequence-specific DNA binding transcription factor activity
negative regulation of interferon-gamma biosynthetic process
negative regulation of interleukin-2 biosynthetic process
negative regulation of transcription, DNA-templated
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
negative regulation of activated T cell proliferation
negative regulation of isotype switching to IgE isotypes
regulation of isotype switching to IgG isotypes
negative regulation of cytokine secretion
negative regulation of immune response
T cell receptor signaling pathway
negative regulation of T-helper 17 cell differentiation

Function(s)

RNA polymerase II transcription factor activity, sequence-specific DNA binding
core promoter binding
transcription factor activity, sequence-specific DNA binding
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
transcription corepressor activity
protein binding
histone acetyltransferase binding
protein homodimerization activity
histone deacetylase binding
sequence-specific DNA binding
metal ion binding
NF-kappaB binding
NFAT protein binding