Hs03039054_cn

• Gene Symbol: EFCAB10
• Assay Reference Genome Location: Chr.7:105567682 on build GRCh38
• Cytoband: 7q22.3

Target Gene Details

• Entrez Gene ID: 100130771
• Gene Name: EF-hand calcium binding domain 10
• Gene Aliases: -
• Location: Chr.7:105565133-105581529 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EFCAB10	NR_027068.1
	DA101957.1

Target Gene Details

• Entrez Gene ID: 60561
• Gene Name: RAD50 interactor 1
• Gene Aliases: RINT-1
• Location: Chr.7:105532085-105567688 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RINT1	NM_021930.4			NP_068749.3
	XM_005250524.3			XP_005250581.1
	XM_011516458.2			XP_011514760.1
	XM_017012496.1			XP_016867985.1
	XM_017012497.1			XP_016867986.1
	XM_017012498.1			XP_016867987.1
	AF317622.1			AAG42101.1
	AK021847.1			BAB13910.1
	AK055508.1
	AK057757.1
	AL832825.1
	BC007120.2			AAH07120.2
	BC068483.1			AAH68483.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv464668	Chr.7:105448246 - 105568045 on Build GRCh38	Gain	EFCAB10 PUS7 RINT1
esv2759549	Chr.7:105117803 - 105568045 on Build GRCh38	Gain	EFCAB10 PUS7 RINT1 SRPK2

More Information

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

Gene Ontology Categories:

Process(es)

retrograde vesicle-mediated transport, Golgi to ER
cell cycle
protein transport
regulation of ER to Golgi vesicle-mediated transport
regulation of signal transduction involved in mitotic G2 DNA damage checkpoint

Function(s)

calcium ion binding
protein binding