AHDC1 (AT-hook DNA binding motif containing 1)

2014-11-01  

Identity

HGNC
AHDC1
LOCATION
1p36.11
LOCUSID
27245
ALIAS
MRD25,XIGIS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 27245
MIM: 615790
HGNC: 25230
Ensembl: ENSG00000126705

Variants:

dbSNP: 27245
ClinVar: 27245
TCGA: ENSG00000126705
COSMIC: AHDC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000126705ENST00000247087Q5TGY3
ENSG00000126705ENST00000374011Q5TGY3
ENSG00000126705ENST00000642245Q5TGY3
ENSG00000126705ENST00000642416Q5TGY3
ENSG00000126705ENST00000644989Q5TGY3

Expression (GTEx)

0
10
20
30
40
50
60
70
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
247919032014De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.18
307297262019Two Chinese Xia-Gibbs syndrome patients with partial growth hormone deficiency.1
317376702019Rare Mutations in AHDC1 in Patients with Obstructive Sleep Apnea.0

Citation

Dessen P

AHDC1 (AT-hook DNA binding motif containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60214/ahdc1