AHDC1 (AT-hook DNA binding motif containing 1)

2014-11-01  

Identity

HGNC
LOCATION
1p36.11
LOCUSID
ALIAS
MRD25,XIGIS
FUSION GENES

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
355852372022Gibbin mesodermal regulation patterns epithelial development.6
361945622022AT-hook DNA-binding motif-containing protein one knockdown downregulates EWS-FLI1 transcriptional activity in Ewing's sarcoma cells.0
355852372022Gibbin mesodermal regulation patterns epithelial development.6
361945622022AT-hook DNA-binding motif-containing protein one knockdown downregulates EWS-FLI1 transcriptional activity in Ewing's sarcoma cells.0
336449332021Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.7
342291132021Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.3
336449332021Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.7
342291132021Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.3
306159512020Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder.11
306159512020Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder.11
307297262019Two Chinese Xia-Gibbs syndrome patients with partial growth hormone deficiency.12
313909322019LINC01133 promotes the progression of cervical cancer by sponging miR-4784 to up-regulate AHDC1.14
317376702019Rare Mutations in AHDC1 in Patients with Obstructive Sleep Apnea.6
307297262019Two Chinese Xia-Gibbs syndrome patients with partial growth hormone deficiency.12
313909322019LINC01133 promotes the progression of cervical cancer by sponging miR-4784 to up-regulate AHDC1.14

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-(at-hook-dna-binding-motif-containing-1)