EEPD1 (endonuclease/exonuclease/phosphatase family domain containing 1)

2009-06-01 Affiliation

Identity

HGNC

EEPD1

LOCATION

7p14.2

LOCUSID

80820

ALIAS

HSPC107

FUSION GENES

Show Gene Fusions

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: 80820
MIM: 617192
HGNC: 22223
Ensembl: ENSG00000122547

Variants:

dbSNP: 80820
ClinVar: 80820
TCGA: ENSG00000122547
COSMIC: EEPD1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000122547	ENST00000242108	Q7L9B9
ENSG00000122547	ENST00000444777	H7C4A5
ENSG00000122547	ENST00000534978	Q7L9B9

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

References

Pubmed ID	Year	Title	Citations
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
26684013	2015	EEPD1 Rescues Stressed Replication Forks and Maintains Genome Stability by Promoting End Resection and Homologous Recombination Repair.	24
28049724	2017	Endonuclease EEPD1 Is a Gatekeeper for Repair of Stressed Replication Forks.	13
29145865	2017	The endonuclease EEPD1 mediates synthetic lethality in RAD52-depleted BRCA1 mutant breast cancer cells.	9
28082258	2017	EEPD1 Is a Novel LXR Target Gene in Macrophages Which Regulates ABCA1 Abundance and Cholesterol Efflux.	8

Citation

Dessen P

EEPD1 (endonuclease/exonuclease/phosphatase family domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-06-01

Online version: http://atlasgeneticsoncology.org/gene/50948/eepd1