Hs06745654_cn

• Gene Symbol: C6orf52
• Assay Reference Genome Location: Chr.6:10693568 on build GRCh38
• Cytoband: 6p24.2

Target Gene Details

• Entrez Gene ID: 347744
• Gene Name: chromosome 6 open reading frame 52
• Gene Aliases: -
• Location: Chr.6:10671418-10694797 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C6orf52	NM_001145020.1			NP_001138492.1
	NR_026736.1
	NR_026737.1
	XM_006715088.3			XP_006715151.1
	XM_011514572.2			XP_011512874.1
	XM_011514574.2			XP_011512876.1
	XM_011514575.2			XP_011512877.1
	AI376550.1
	AW183566.1
	BC016820.1			AAH16820.1
	BX280692.1

Target Gene Details

• Entrez Gene ID: 55003
• Gene Name: PAK1 interacting protein 1
• Gene Aliases: MAK11, PIP1, WDR84, bA421M1.5, hPIP1
• Location: Chr.6:10690865-10709782 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PAK1IP1	XM_005249204.2			XP_005249261.1
	XM_011514720.1			XP_011513022.1
	XM_011514721.1			XP_011513023.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv966670	Chr.6:10447438 - 10871656 on Build GRCh38	Duplication	TMEM14B PAK1IP1 TMEM14C MIR5689HG GCNT2 C6orf52 MAK LOC101928106
nsv462631	Chr.6:10449025 - 10839526 on Build GRCh38	Gain	TMEM14B PAK1IP1 TMEM14C MIR5689HG GCNT2 C6orf52 MAK LOC101928106
nsv470800	Chr.6:10538711 - 10863092 on Build GRCh38	Gain	TMEM14B PAK1IP1 TMEM14C GCNT2 C6orf52 MAK
nsv520853	Chr.6:10671531 - 10724327 on Build GRCh38	Loss	PAK1IP1 TMEM14C C6orf52

More Information

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

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

cell proliferation
negative regulation of signal transduction
palate development

Function(s)

protein binding