Hs02909654_cn

• Gene Symbol: EVC
• Assay Reference Genome Location: Chr.4:5752911 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 Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EVC	NM_001306090.1	9	1358	NP_001293019.1
	NM_001306092.1	9	1358	NP_001293021.1
	NM_153717.2	9	1358	NP_714928.1
	XM_006713865.3	9	1355	XP_006713928.1
	XM_006713866.3	9	1355	XP_006713929.1
	XM_011513419.2	9	1352	XP_011511721.1
	XM_017007883.1	9	1352	XP_016863372.1
	AF216184.1	9	1358	AAF37216.1
	AF216185.1	9	1358	AAF37217.1
	AF239742.1	9	1174	AAF44682.1
	AK025394.1	4	487
	BC085608.1	9	1340	AAH85608.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv461182	Chr.4:5733576 - 5780257 on Build GRCh38	Loss	EVC
nsv1000365	Chr.4:5747389 - 5769007 on Build GRCh38	Gain	EVC
nsv829844	Chr.4:5719377 - 5925385 on Build GRCh38	Gain	MIR378D1 CRMP1 C4orf50 EVC
nsv593480	Chr.4:4961200 - 5760434 on Build GRCh38	Loss	STK32B LOC107986255 LOC101928306 LINC01587 EVC2 CYTL1 EVC
nsv522904	Chr.4:5752388 - 5757156 on Build GRCh38	Loss	EVC

More Information

• Set Membership: Intragenic, 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