ASPHD1 (aspartate beta-hydroxylase domain containing 1)

2014-11-01  

Identity

HGNC
ASPHD1
LOCATION
16p11.2
LOCUSID
253982
ALIAS
-

Other Information

Locus ID:

NCBI: 253982
HGNC: 27380
Ensembl: ENSG00000174939

Variants:

dbSNP: 253982
ClinVar: 253982
TCGA: ENSG00000174939
COSMIC: ASPHD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000174939ENST00000308748Q5U4P2
ENSG00000174939ENST00000414952Q5U4P2
ENSG00000174939ENST00000483405I3L2A5
ENSG00000174939ENST00000563177I3L2Y2
ENSG00000174939ENST00000566693Q5U4P2
ENSG00000174939ENST00000651383I3L2A5

Expression (GTEx)

0
50
100
150
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

Citation

Dessen P

ASPHD1 (aspartate beta-hydroxylase domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60580/asphd1-(aspartate-beta-hydroxylase-domain-containing-1)