ANKUB1 (ankyrin repeat and ubiquitin domain containing 1)

2014-11-01  

Identity

HGNC
ANKUB1
LOCATION
3q25.1
LOCUSID
389161
ALIAS
C3orf16
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 389161
HGNC: 29642
Ensembl: ENSG00000206199

Variants:

dbSNP: 389161
ClinVar: 389161
TCGA: ENSG00000206199
COSMIC: ANKUB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000206199ENST00000446160A6NFN9
ENSG00000206199ENST00000462519A6NFN9
ENSG00000206199ENST00000484019C9JND2

Expression (GTEx)

0
1
2
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
N/A

References

Pubmed IDYearTitleCitations
322538252020Novel frameshift mutations of ANKUB1, GLI3, and TAS2R3 associated with polysyndactyly in a Chinese family.2
322538252020Novel frameshift mutations of ANKUB1, GLI3, and TAS2R3 associated with polysyndactyly in a Chinese family.2

Citation

Dessen P

ANKUB1 (ankyrin repeat and ubiquitin domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60373/gene-fusions-explorer/favicon/gene-explorer/