Hs01704562_cn

• Gene Symbol: FOXP3
• Assay Reference Genome Location: Chr.X:49251038 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 Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FOXP3	NM_001114377.1	11	1675	NP_001107849.1
	NM_014009.3	12	1780	NP_054728.2
	XM_006724533.2	11	1955	XP_006724596.2
	XM_011543916.2	11	3385	XP_011542218.1
	XM_017029565.1	13	3241	XP_016885054.1
	XM_017029566.1	12	3205	XP_016885055.1
	XM_017029567.1	10	1780	XP_016885056.1
	AF277993.1	12	1780	AAG53607.1
	DB342786.1

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

More Information

• Set Membership: Intragenic, 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