CES1P1 (carboxylesterase 1 pseudogene 1)

2017-01-01 Affiliation

Identity

HGNC

CES1P1

LOCATION

16q12.2

LOCUSID

51716

ALIAS

CES1A2,CES1A3,CES4,CESR,PCE-3

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 51716
HGNC: 18546
Ensembl: ENSG00000228695

Variants:

dbSNP: 51716
ClinVar: 51716
TCGA: ENSG00000228695
COSMIC: CES1P1

RNA/Proteins

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA443797	Coronary Disease	Disease	ClinicalAnnotation	associated	PD	24535487
PA443937	Drug Toxicity	Disease	ClinicalAnnotation	associated	PD	28139840
PA448771	capecitabine	Chemical	ClinicalAnnotation	associated	PD	28139840
PA449053	clopidogrel	Chemical	ClinicalAnnotation	associated	PD	24535487

References

Pubmed ID	Year	Title	Citations
24535487	2014	The effects of CES1A2 A(-816)C and CYP2C19 loss-of-function polymorphisms on clopidogrel response variability among Chinese patients with coronary heart disease.	13
20195289	2010	Genetic variation in carboxylesterase genes and susceptibility to isoniazid-induced hepatotoxicity.	12
26871237	2016	Regulatory effects of genomic translocations at the human carboxylesterase-1 (CES1) gene locus.	4
21510813	2011	Mutation-sensitive molecular switch method to detect CES1A2 mutation in the Chinese Han and Yao populations.	1

Citation

Dessen P

CES1P1 (carboxylesterase 1 pseudogene 1)

Atlas Genet Cytogenet Oncol Haematol. 2017-01-01

Online version: http://atlasgeneticsoncology.org/gene/56705/ces1p1