Hs05974908_cn

• Gene Symbol: PCDH12
• Assay Reference Genome Location: Chr.5:141952523 on build GRCh38
• Cytoband: 5q31.3

Target Gene Details

• Entrez Gene ID: 51294
• Gene Name: protocadherin 12
• Gene Aliases: VE-cadherin-2, VECAD2
• Location: Chr.5:141943585-141959062 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDH12	NM_016580.3			NP_057664.1
	AB026893.1			BAA95162.1
	AF231025.1			AAF61931.1
	AF240635.1			AAF73962.1
	AK023785.1			BAB14677.1
	AK024140.1			BAB14837.1
	AK027282.1			BAB55016.1
	AK226049.1
	AK315029.1
	AY358428.1			AAQ88794.1
	BC042634.1			AAH42634.1
	BC052973.1			AAH52973.1

Target Gene Details

• Entrez Gene ID: 9604
• Gene Name: ring finger protein 14
• Gene Aliases: ARA54, HFB30, HRIHFB2038, TRIAD2
• Location: Chr.5:141949337-141993709 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RNF14	XM_017010070.1			XP_016865559.1
	XM_017010076.1			XP_016865565.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1154058	Chr.5:141632251 - 142199943 on Build GRCh38	Deletion	FCHSD1 RELL2 HDAC3 RNF14 PCDH12 NDFIP1 GNPDA1 LOC729080 PCDH1 ARAP3 KIAA0141
nsv599924	Chr.5:141919412 - 141955933 on Build GRCh38	Gain	RNF14 PCDH12 KIAA0141

More Information

Additional Information:

For this assay, SNP(s) [rs111262438] 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

Panther Classification:

Molecular Function -

cadherin, ubiquitin-protein ligase

Gene Ontology Categories:

Process(es)

glycogen metabolic process
homophilic cell adhesion via plasma membrane adhesion molecules
neuron recognition
calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules
labyrinthine layer development
protein polyubiquitination
transcription, DNA-templated
regulation of transcription, DNA-templated
regulation of transcription from RNA polymerase II promoter
signal transduction
protein ubiquitination
androgen receptor signaling pathway
positive regulation of proteasomal ubiquitin-dependent protein catabolic process
protein ubiquitination involved in ubiquitin-dependent protein catabolic process
positive regulation of transcription, DNA-templated
regulation of androgen receptor signaling pathway

Function(s)

calcium ion binding
transcription coactivator activity
protein binding
zinc ion binding
ligase activity
ubiquitin-like protein transferase activity
ubiquitin conjugating enzyme binding
androgen receptor binding
ubiquitin protein ligase activity