Hs02146785_cn

• Gene Symbol: FOXP3
• Assay Reference Genome Location: Chr.X:49251393 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	1320	NP_001107849.1
	NM_014009.3	12	1425	NP_054728.2
	XM_006724533.2	11	1600	XP_006724596.2
	XM_011543916.2	11	3030	XP_011542218.1
	XM_017029565.1	13	2886	XP_016885054.1
	XM_017029566.1	12	2850	XP_016885055.1
	XM_017029567.1	10	1425	XP_016885056.1
	AF277993.1	12	1425	AAG53607.1
	AJ005891.1	10	1267	CAA06748.1
	AK292052.1	12	1309
	AK299988.1	11	1204
	BC113401.1	11	1267
	BC113403.1	11	1267
	BC143785.1	10	1162
	BC143786.1	10	1336
	DQ010327.1	10	1132	AAY27088.1
	EF534714.1	11	1237
	EU855812.1	10	1156

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

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