Hs01602077_cn

• Gene Symbol: FOXP3
• Assay Reference Genome Location: Chr.X:49251739 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 11 - Exon 12

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

More Information

• Set Membership: Intragenic, 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