Hs00984638_cn

• Gene Symbol: CXXC1
• Assay Reference Genome Location: Chr.18:50283913 on build GRCh38
• Cytoband: 18q21.1

Target Gene Details

• Entrez Gene ID: 30827
• Gene Name: CXXC finger protein 1
• Gene Aliases: 2410002I16Rik, 5830420C16Rik, CFP1, CGBP, HsT2645, PCCX1, PHF18, SPP1, ZCGPC1, hCGBP
• Location: Chr.18:50282343-50288322 on Build GRCh38
• Assay Gene Location: Overlaps Intron 11 - Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CXXC1	NM_001101654.1			NP_001095124.1
	NM_014593.3			NP_055408.2
	XM_011525940.2			XP_011524242.1
	XM_011525941.2			XP_011524243.1
	XM_017025718.1			XP_016881207.1
	XM_017025719.1			XP_016881208.1
	AB031069.1			BAA96307.1
	AB209883.1			BAD93120.1
	AF149758.1			AAF37799.1
	AK294645.1
	AK314886.1
	AL136862.1			CAB66796.1
	BC014940.2			AAH14940.1
	BC015733.1			AAH15733.1
	BC029922.1			AAH29922.1
	BX647189.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv953541	Chr.18:50272231 - 50289530 on Build GRCh38	Deletion	MBD1 CXXC1
nsv576889	Chr.18:50227099 - 50287465 on Build GRCh38	Loss	MBD1 CFAP53 CXXC1

More Information

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

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
regulation of transcription, DNA-templated
IRE1-mediated unfolded protein response
positive regulation of transcription, DNA-templated
histone H3-K4 methylation

Function(s)

core promoter proximal region sequence-specific DNA binding
protein binding
zinc ion binding
histone methyltransferase activity (H3-K4 specific)
unmethylated CpG binding