Hs02101317_cn

• Gene Symbol: KDF1
• Assay Reference Genome Location: Chr.1:26951905 on build GRCh38
• Cytoband: 1p36.11

Target Gene Details

• Entrez Gene ID: 126695
• Gene Name: keratinocyte differentiation factor 1
• Gene Aliases: C1orf172
• Location: Chr.1:26949556-26960484 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KDF1	NM_152365.2	2	569	NP_689578.2
	XM_005245735.2	2	610	XP_005245792.1
	XM_011540622.1	2	584	XP_011538924.1
	AK091952.1	2	565	BAC03775.1
	BC033143.1	1	400	AAH33143.1
	CR749558.1	3	426	CAH18355.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv508689	Chr.1:26912462 - 26959506 on Build GRCh38	Deletion	KDF1 NUDC NR0B2
nsv1000012	Chr.1:26714969 - 27141528 on Build GRCh38	Gain	KDF1 ZDHHC18 SFN GPATCH3 NUDC ARID1A GPN2 NR0B2 SLC9A1 PIGV FAM46B TRNP1
nsv834524	Chr.1:26830184 - 26994502 on Build GRCh38	Gain+Loss	KDF1 ZDHHC18 SFN GPATCH3 NUDC GPN2 NR0B2 TRNP1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

keratinocyte development
regulation of epidermal cell division
negative regulation of keratinocyte proliferation
morphogenesis of embryonic epithelium
positive regulation of epidermal cell differentiation
developmental growth
limb epidermis development
establishment of skin barrier
negative regulation of stem cell proliferation