PLEKHN1 (pleckstrin homology domain containing N1)

2014-11-01 Affiliation

Identity

HGNC

PLEKHN1

LOCATION

1p36.33

LOCUSID

84069

ALIAS

CLPABP

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: 84069
HGNC: 25284
Ensembl: ENSG00000187583

Variants:

dbSNP: 84069
ClinVar: 84069
TCGA: ENSG00000187583
COSMIC: PLEKHN1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000187583	ENST00000379407	Q494U1
ENSG00000187583	ENST00000379409	Q494U1
ENSG00000187583	ENST00000379410	Q494U1
ENSG00000187583	ENST00000491024	J3KSM5

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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

Citation

Dessen P

PLEKHN1 (pleckstrin homology domain containing N1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71989/plekhn1