Hs03946171_cn

• Gene Symbol: CES1
• Assay Reference Genome Location: Chr.16:55822896 on build GRCh38
• Cytoband: 16q12.2

Target Gene Details

• Entrez Gene ID: 1066
• Gene Name: carboxylesterase 1
• Gene Aliases: ACAT, CE-1, CEH, CES2, HMSE, HMSE1, PCE-1, REH, SES1, TGH, hCE-1
• Location: Chr.16:55802851-55833186 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CES1	NM_001025194.1			NP_001020365.1
	NM_001025195.1			NP_001020366.1
	NM_001266.4			NP_001257.4
	XM_005255774.1			XP_005255831.1
	AB025026.1			BAA84995.1
	AB119995.1			BAC87748.1
	AB119996.1			BAC87749.1
	AF177775.1			AAD53175.1
	AK290623.1
	AK292209.1
	AK301651.1
	AY268104.1			AAP20868.1
	BC012418.1			AAH12418.1
	BC110338.1			AAI10339.1
	L07764.1			AAA16036.1
	L07765.1			AAA35711.1
	M55509.1			AAA35650.1
	M65261.1			AAA83932.1
	M73499.1			AAA35649.1
	S73751.1			AAC60631.2
	X52973.1			CAA37147.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv442724	Chr.16:55808470 - 55828798 on Build GRCh38	Gain	CES1
dgv5137n54	Chr.16:55808492 - 55835816 on Build GRCh38	Gain	CES1
dgv840e212	Chr.16:55790795 - 55834514 on Build GRCh38	Gain	CES1
dgv5135n54	Chr.16:55787063 - 55830540 on Build GRCh38	Gain	CES1
nsv820205	Chr.16:55793542 - 55832100 on Build GRCh38	Gain	CES1
dgv842e212	Chr.16:55806374 - 55834514 on Build GRCh38	Gain	CES1
nsv1077830	Chr.16:55806987 - 55830388 on Build GRCh38	Duplication	CES1
esv3638688	Chr.16:55798295 - 55830609 on Build GRCh38	Loss	CES1
dgv841e212	Chr.16:55805923 - 55825046 on Build GRCh38	Loss	CES1
nsv827676	Chr.16:55821542 - 55831399 on Build GRCh38	Gain	CES1
dgv52e203	Chr.16:55750518 - 55837223 on Build GRCh38	Gain+Loss	CES1 CES1P1
nsv9446	Chr.16:55806461 - 55833345 on Build GRCh38	Gain	CES1
nsv572687	Chr.16:55798655 - 55827882 on Build GRCh38	Gain	CES1
esv32573	Chr.16:55809091 - 55831223 on Build GRCh38	Gain+Loss	CES1
dgv479n67	Chr.16:55808461 - 55832982 on Build GRCh38	Gain	CES1
dgv2987n100	Chr.16:55782722 - 55845205 on Build GRCh38	Gain	CES1
esv28619	Chr.16:55808213 - 55831467 on Build GRCh38	Gain	CES1
nsv977981	Chr.16:55776220 - 55830390 on Build GRCh38	Duplication	CES1
esv2937123	Chr.16:55808088 - 55828088 on Build GRCh38	Duplication	CES1
dgv843e212	Chr.16:55808590 - 55825046 on Build GRCh38	Gain	CES1
nsv572632	Chr.16:55759783 - 55829137 on Build GRCh38	Gain	CES1 CES1P1
nsv471382	Chr.16:55787588 - 55830150 on Build GRCh38	Gain	CES1
esv2758649	Chr.16:55635484 - 55949678 on Build GRCh38	Gain	CES1 CES1P2 CES5A CES1P1 SLC6A2
nsv572693	Chr.16:55809206 - 55844051 on Build GRCh38	Loss	CES1
nsv1110287	Chr.16:55808388 - 55827188 on Build GRCh38	Duplication	CES1

More Information

Additional Information:

For this assay, SNP(s) [rs114765581,rs116621568] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

esterase

Gene Ontology Categories:

Process(es)

xenobiotic metabolic process
metabolic process
response to toxic substance
epithelial cell differentiation

Function(s)

methylumbelliferyl-acetate deacetylase activity
carboxylic ester hydrolase activity