Hs02429933_cn

• Gene Symbol: KRT5
• Assay Reference Genome Location: Chr.12:52517234 on build GRCh38
• Cytoband: 12q13.13

Target Gene Details

• Entrez Gene ID: 3852
• Gene Name: keratin 5
• Gene Aliases: CK5, DDD, DDD1, EBS2, K5, KRT5A
• Location: Chr.12:52514575-52520459 on Build GRCh38
• Assay Gene Location: Overlaps Intron 5 - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KRT5	NM_000424.3			NP_000415.2
	AK093720.1
	AK296823.1
	AK303972.1
	AK310827.1
	BC024292.1			AAH24292.1
	BC042132.1			AAH42132.1
	BC071906.1			AAH71906.1
	M19723.1			AAA36145.1
	M21389.1			AAA36143.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv709	Chr.12:52500235 - 52564462 on Build GRCh38	Insertion	KRT5 KRT71
nsv558933	Chr.12:52514689 - 52548578 on Build GRCh38	Loss	KRT5 KRT71
nsv832412	Chr.12:52390206 - 52545452 on Build GRCh38	Loss	KRT6A KRT5 KRT71 KRT75 KRT6B KRT6C KRT82

More Information

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

Gene Ontology Categories:

Process(es)

cytoskeleton organization
epidermis development
hemidesmosome assembly

Function(s)

structural constituent of cytoskeleton
protein binding
scaffold protein binding