Hs03500197_cn

• Gene Symbol: EFCC1
• Assay Reference Genome Location: Chr.3:129008929 on build GRCh38
• Cytoband: 3q21.3

Target Gene Details

• Entrez Gene ID: 79825
• Gene Name: EF-hand and coiled-coil domain containing 1
• Gene Aliases: C3orf73, CCDC48
• Location: Chr.3:129001604-129040742 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EFCC1	NM_024768.2			NP_079044.2
	XM_005247781.3			XP_005247838.1
	XM_011513161.2			XP_011511463.1
	XM_011513163.2			XP_011511465.1
	XM_011513164.2			XP_011511466.1

Target Gene Details

• Entrez Gene ID: 57501
• Gene Name: KIAA1257
• Gene Aliases: -
• Location: Chr.3:128910186-129032431 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KIAA1257	XM_011513050.2			XP_011511352.2
	XM_017006939.1			XP_016862428.1
	XM_017006940.1			XP_016862429.1
	XM_017006941.1			XP_016862430.1
	XM_017006942.1			XP_016862431.1
	XM_017006943.1			XP_016862432.1
	XM_017006945.1			XP_016862434.1
	XM_017006946.1			XP_016862435.1
	XM_017006947.1			XP_016862436.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv990629	Chr.3:129002595 - 129010970 on Build GRCh38	Deletion	EFCC1 KIAA1257
nsv591650	Chr.3:128986168 - 129177231 on Build GRCh38	Loss	CNBP ISY1 GP9 EFCC1 RAB43 KIAA1257 ISY1-RAB43
nsv997717	Chr.3:129006263 - 129081989 on Build GRCh38	Loss	GP9 EFCC1 KIAA1257
nsv519919	Chr.3:128993535 - 129022799 on Build GRCh38	Loss	EFCC1 KIAA1257
esv3597731	Chr.3:128990006 - 129023340 on Build GRCh38	Gain	EFCC1 KIAA1257
esv3597730	Chr.3:128986215 - 129087514 on Build GRCh38	Gain	GP9 EFCC1 KIAA1257

More Information

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

Panther Classification:

Molecular Function -

translation elongation factor

Gene Ontology Categories:

Function(s)

calcium ion binding