Hs05964837_cn

• Gene Symbol: EVC
• Assay Reference Genome Location: Chr.4:5711958 on build GRCh38
• Cytoband: 4p16.2

Target Gene Details

• Entrez Gene ID: 2121
• Gene Name: EvC ciliary complex subunit 1
• Gene Aliases: DWF-1, EVC1, EVCL
• Location: Chr.4:5711197-5829043 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EVC	NM_001306090.1			NP_001293019.1
	NM_001306092.1			NP_001293021.1
	NM_153717.2			NP_714928.1
	XM_006713865.3			XP_006713928.1
	XM_006713866.3			XP_006713929.1
	XM_011513419.2			XP_011511721.1
	XM_017007883.1			XP_016863372.1
	AF216184.1			AAF37216.1
	AF216185.1			AAF37217.1
	AF239742.1			AAF44682.1
	BC085608.1			AAH85608.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv508993	Chr.4:5688142 - 5744093 on Build GRCh38	Insertion	EVC EVC2
nsv593480	Chr.4:4961200 - 5760434 on Build GRCh38	Loss	STK32B LOC101928306 CYTL1 LINC01587 EVC LOC107986255 EVC2

More Information

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

Gene Ontology Categories:

Process(es)

skeletal system development
endochondral bone growth
smoothened signaling pathway
muscle organ development
positive regulation of smoothened signaling pathway
cartilage development