Hs03850104_cn

• Gene Symbol: CRYL1
• Assay Reference Genome Location: Chr.13:20433540 on build GRCh38
• Cytoband: 13q12.11

Target Gene Details

• Entrez Gene ID: 51084
• Gene Name: crystallin lambda 1
• Gene Aliases: GDH, HEL30, lambda-CRY
• Location: Chr.13:20403667-20525873 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CRYL1	NM_015974.2			NP_057058.2
	XM_005266415.3			XP_005266472.1
	XM_005266416.4			XP_005266473.1
	XM_017020624.1			XP_016876113.1
	AF077049.1			AAD27782.1
	AF087898.1			AAP97197.1
	AF160216.1			AAF67017.1
	AK024041.1
	AK301605.1
	BC008562.2
	BC071810.1
	BC119660.1
	BC119661.1
	EU794604.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3892302	Chr.13:20412913 - 20441076 on Build GRCh38	Loss	MIR4499 CRYL1
esv34984	Chr.13:20398561 - 20542402 on Build GRCh38	Loss	MIR4499 CRYL1
dgv1612n100	Chr.13:20222652 - 20530273 on Build GRCh38	Loss	MIR4499 GJB6 CRYL1
nsv818947	Chr.13:20401130 - 20521581 on Build GRCh38	Loss	MIR4499 CRYL1
dgv3075n54	Chr.13:20398414 - 20521581 on Build GRCh38	Loss	MIR4499 CRYL1
dgv3072n54	Chr.13:20216603 - 20521581 on Build GRCh38	Loss	MIR4499 GJB6 CRYL1
nsv1046946	Chr.13:19730301 - 20507454 on Build GRCh38	Gain	GJB2 MIR4499 LINC01072 GJB6 GJA3 CRYL1 ZMYM2 ZMYM5 PSPC1
esv2759925	Chr.13:20398583 - 20650339 on Build GRCh38	Loss	MIR4499 IFT88 CRYL1
esv2751132	Chr.13:20217943 - 20546665 on Build GRCh38	Loss	MIR4499 GJB6 CRYL1

More Information

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

Panther Classification:

Molecular Function -

dehydrogenase

Gene Ontology Categories:

Process(es)

fatty acid metabolic process
glucuronate catabolic process to xylulose 5-phosphate
oxidation-reduction process

Function(s)

3-hydroxyacyl-CoA dehydrogenase activity
protein homodimerization activity
L-gulonate 3-dehydrogenase activity
NAD+ binding