KIAA0753 (KIAA0753)

2014-11-01  

Identity

HGNC
KIAA0753
LOCATION
17p13.1
LOCUSID
9851
ALIAS
MNR,OFIP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9851
MIM: 617112
HGNC: 29110
Ensembl: ENSG00000198920

Variants:

dbSNP: 9851
ClinVar: 9851
TCGA: ENSG00000198920
COSMIC: KIAA0753

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198920ENST00000361413Q2KHM9
ENSG00000198920ENST00000542826F6SFD5
ENSG00000198920ENST00000570790I3L3Y0
ENSG00000198920ENST00000571642I3L1P2
ENSG00000198920ENST00000572235I3L2A7
ENSG00000198920ENST00000572370Q2KHM9
ENSG00000198920ENST00000576281I3L341

Expression (GTEx)

0
5
10
15
20
25
30
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
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
282202592017Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.8
291384122017Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.2

Citation

Dessen P

KIAA0753 (KIAA0753)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64861/kiaa0753