Hs00819047_cn

• Gene Symbol: FOXP3
• Assay Reference Genome Location: Chr.X:49255448 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: Overlaps Intron 8 - Intron 9

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

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