Hs04863284_cn

• Gene Symbol: INTU
• Assay Reference Genome Location: Chr.4:127648325 on build GRCh38
• Cytoband: 4q28.1

Target Gene Details

• Entrez Gene ID: 27152
• Gene Name: inturned planar cell polarity protein
• Gene Aliases: INT, PDZD6, PDZK6
• Location: Chr.4:127623271-127716779 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
INTU	NM_015693.3			NP_056508.2
	XM_011531844.2			XP_011530146.1
	XM_011531845.2			XP_011530147.1
	XM_011531846.1			XP_011530148.1
	XM_011531847.1			XP_011530149.1
	XM_011531849.2			XP_011530151.1
	XM_011531850.2			XP_011530152.1
	XM_011531851.2			XP_011530153.1
	XM_017008026.1			XP_016863515.1
	AB033110.1
	AK291481.1
	BC051698.1			AAH51698.1
	BC130611.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv830056	Chr.4:127595984 - 127755402 on Build GRCh38	Loss	SLC25A31 INTU

More Information

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

Gene Ontology Categories:

Process(es)

nervous system development
regulation of smoothened signaling pathway
negative regulation of keratinocyte proliferation
spinal cord dorsal/ventral patterning
neural tube development
keratinocyte differentiation
regulation of ossification
hair follicle morphogenesis
cilium assembly
embryonic digit morphogenesis
positive regulation of smoothened signaling pathway
negative regulation of cell division
limb development
motile primary cilium assembly