Hs05566118_cn

• Gene Symbol: EFCAB6
• Assay Reference Genome Location: Chr.22:43532018 on build GRCh38
• Cytoband: 22q13.2

Target Gene Details

• Entrez Gene ID: 64800
• Gene Name: EF-hand calcium binding domain 6
• Gene Aliases: DJBP, HSCBCIP1, dJ185D5.1
• Location: Chr.22:43528549-43812403 on Build GRCh38
• Assay Gene Location: Within Intron 37

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EFCAB6	NM_022785.3			NP_073622.2
	NM_198856.2			NP_942153.1
	XM_005261704.2			XP_005261761.1
	XM_005261705.3			XP_005261762.1
	XM_011530316.1			XP_011528618.1
	XM_011530317.2			XP_011528619.1
	XM_011530318.2			XP_011528620.1
	XM_011530319.2			XP_011528621.1
	XM_011530320.2			XP_011528622.1
	XM_011530321.2			XP_011528623.1
	XM_011530322.2			XP_011528624.1
	XM_011530323.2			XP_011528625.1
	XM_011530325.2			XP_011528627.1
	XM_011530327.2			XP_011528629.1
	XM_011530329.1			XP_011528631.1
	XM_017028910.1			XP_016884399.1
	XM_017028911.1			XP_016884400.1
	XM_017028912.1			XP_016884401.1
	AB073862.1			BAB71780.1
	AK027241.1			BAB15703.1
	AK225596.1
	AK225605.1
	AK292411.1
	AK292498.1
	AL355841.1			CAB91065.1
	AW139921.1
	BC039315.1			AAH39315.1

Target Gene Details

• Entrez Gene ID: 100874197
• Gene Name: EFCAB6 antisense RNA 1
• Gene Aliases: -
• Location: Chr.22:43516254-43536605 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EFCAB6-AS1	NR_046563.1
	AK090843.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1058659	Chr.22:43522577 - 43700374 on Build GRCh38	Loss	EFCAB6 EFCAB6-AS1
nsv589098	Chr.22:43463583 - 43718462 on Build GRCh38	Gain	EFCAB6 EFCAB6-AS1 MPPED1
nsv471205	Chr.22:43467417 - 43718981 on Build GRCh38	Gain	EFCAB6 EFCAB6-AS1 MPPED1

More Information

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

Panther Classification:

Molecular Function -

calmodulin-related

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
regulation of transcription, DNA-templated

Function(s)

calcium ion binding