Hs05586530_cn

• Gene Symbol: CECR1
• Assay Reference Genome Location: Chr.22:17200383 on build GRCh38
• Cytoband: 22q11.1

Target Gene Details

• Entrez Gene ID: 51816
• Gene Name: cat eye syndrome chromosome region, candidate 1
• Gene Aliases: ADA2, ADGF, IDGFL, PAN, SNEDS
• Location: Chr.22:17178790-17221854 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CECR1	NM_001282225.1			NP_001269154.1
	NM_001282226.1			NP_001269155.1
	NM_001282227.1			NP_001269156.1
	NM_001282228.1			NP_001269157.1
	NM_001282229.1			NP_001269158.1
	XM_006724080.3			XP_006724143.1
	XM_011546133.1			XP_011544435.1
	AB209648.1			BAD92885.1
	AF190746.1			AAF65941.1
	AK292689.1
	AK295174.1
	AK304818.1
	AK314321.1
	BC051755.1			AAH51755.1
	CR456417.1			CAG30303.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3893425	Chr.22:17184523 - 17219394 on Build GRCh38	Loss	CECR1
esv3647209	Chr.22:17151829 - 17264992 on Build GRCh38	Gain	CECR1 CECR3 CECR5-AS1 CECR5
nsv1064641	Chr.22:16757380 - 17233805 on Build GRCh38	Gain	CECR6 GAB4 CECR1 IL17RA LOC100996342 CECR5-AS1 XKR3 HSFY1P1 CECR7 CECR5
esv3647210	Chr.22:17174250 - 17207794 on Build GRCh38	Gain	CECR1
nsv509805	Chr.22:17081417 - 17267685 on Build GRCh38	Insertion	CECR6 CECR1 CECR3 IL17RA LOC100996342 CECR5-AS1 CECR5

More Information

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

Panther Classification:

Molecular Function -

deaminase

Gene Ontology Categories:

Process(es)

adenosine catabolic process
multicellular organism development
hypoxanthine salvage
cellular protein metabolic process
inosine biosynthetic process

Function(s)

adenosine deaminase activity
growth factor activity
heparin binding
zinc ion binding
adenosine receptor binding
protein homodimerization activity
proteoglycan binding