Hs02188086_cn

• Gene Symbol: PAK1IP1
• Assay Reference Genome Location: Chr.6:10704761 on build GRCh38
• Cytoband: 6p24.2

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: Overlaps Intron 8 - Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PAK1IP1	NM_017906.2			NP_060376.2
	XM_005249204.2			XP_005249261.1
	XM_011514720.1			XP_011513022.1
	XM_011514721.1			XP_011513023.1
	AF283303.1			AAK57477.1
	AK000631.1			BAA91296.1
	AK225516.1
	BC010907.1			AAH10907.1
	KU178675.1
	KU178676.1

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	LOC101928106 MIR5689HG TMEM14B C6orf52 PAK1IP1 TMEM14C GCNT2 MAK
nsv462631	Chr.6:10449025 - 10839526 on Build GRCh38	Gain	LOC101928106 MIR5689HG TMEM14B C6orf52 PAK1IP1 TMEM14C GCNT2 MAK
nsv470800	Chr.6:10538711 - 10863092 on Build GRCh38	Gain	TMEM14B C6orf52 PAK1IP1 TMEM14C GCNT2 MAK
nsv520853	Chr.6:10671531 - 10724327 on Build GRCh38	Loss	C6orf52 PAK1IP1 TMEM14C

More Information

• Set Membership: Intragenic, 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