Hs06474734_cn

• Gene Symbol: ADNP2
• Assay Reference Genome Location: Chr.18:80128913 on build GRCh38
• Cytoband: 18q23

Target Gene Details

• Entrez Gene ID: 22850
• Gene Name: ADNP homeobox 2
• Gene Aliases: ZNF508
• Location: Chr.18:80109031-80140346 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ADNP2	NM_014913.3			NP_055728.1
	XM_005266656.4			XP_005266713.1
	XM_011525883.2			XP_011524185.1
	AB020670.1
	AK292566.1
	BC071589.1			AAH71589.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv577958	Chr.18:79925520 - 80130825 on Build GRCh38	Gain	TXNL4A ADNP2 PQLC1 RBFA HSBP1L1 RBFADN
dgv3413n100	Chr.18:80023442 - 80257174 on Build GRCh38	Gain	TXNL4A PARD6G ADNP2 PARD6G-AS1 RBFA RBFADN
nsv428359	Chr.18:79277548 - 80255221 on Build GRCh38	Gain	LOC284240 ATP9B PARD6G ADNP2 PQLC1 NFATC1 CTDP1 RBFA LOC284241 KCNG2 HSBP1L1 TXNL4A PARD6G-AS1 LOC105376875 LOC107985149 RBFADN
nsv1065902	Chr.18:78538045 - 80257174 on Build GRCh38	Gain	SALL3 LOC284240 ATP9B PARD6G ADNP2 PQLC1 NFATC1 CTDP1 RBFA LOC284241 KCNG2 HSBP1L1 TXNL4A PARD6G-AS1 LOC100996274 LOC105376875 LOC107985149 RBFADN
esv3643331	Chr.18:80099479 - 80182196 on Build GRCh38	Gain	PARD6G ADNP2 PARD6G-AS1
esv275287	Chr.18:80118818 - 80133560 on Build GRCh38	Gain+Loss	ADNP2
nsv1061450	Chr.18:79703531 - 80135801 on Build GRCh38	Gain	TXNL4A ADNP2 PQLC1 CTDP1 RBFA KCNG2 HSBP1L1 RBFADN
dgv3414n100	Chr.18:80110621 - 80257174 on Build GRCh38	Gain	PARD6G ADNP2 PARD6G-AS1
esv3643326	Chr.18:79799861 - 80157032 on Build GRCh38	Loss	TXNL4A ADNP2 PQLC1 PARD6G-AS1 RBFA KCNG2 HSBP1L1 RBFADN

More Information

Additional Information:

For this assay, SNP(s) [rs114355261] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
regulation of transcription, DNA-templated
neuron differentiation
positive regulation of cell growth
cellular response to oxidative stress
negative regulation of cell death
cellular response to retinoic acid

Function(s)

molecular_function
DNA binding
protein binding
metal ion binding