Identity
HGNC
LOCATION
11p15.5
LOCUSID
ALIAS
MRD24,NEDHELS,NUDR,SPN,VSVS,ZMYND5
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10522
MIM: 602635
HGNC: 14677
Ensembl: ENSG00000177030
Variants:
dbSNP: 10522
ClinVar: 10522
TCGA: ENSG00000177030
COSMIC: DEAF1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000177030 | ENST00000382409 | O75398 |
| ENSG00000177030 | ENST00000527170 | H0YCH1 |
| ENSG00000177030 | ENST00000529717 | H0YCY2 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37958600 | 2023 | Transcriptional Regulation of the Human 5-HT1A Receptor Gene by Lithium: Role of Deaf1 and GSK3β. | 1 |
| 37958600 | 2023 | Transcriptional Regulation of the Human 5-HT1A Receptor Gene by Lithium: Role of Deaf1 and GSK3β. | 1 |
| 33705764 | 2021 | De novo variants of DEAF1 cause intellectual disability in six Chinese patients. | 3 |
| 33705764 | 2021 | De novo variants of DEAF1 cause intellectual disability in six Chinese patients. | 3 |
| 30923367 | 2019 | De novo and biallelic DEAF1 variants cause a phenotypic spectrum. | 8 |
| 31145909 | 2019 | The Transcription Factor Deaf1 Modulates Engrailed-1 Expression to Regulate Skin Appendage Fate. | 5 |
| 30923367 | 2019 | De novo and biallelic DEAF1 variants cause a phenotypic spectrum. | 8 |
| 31145909 | 2019 | The Transcription Factor Deaf1 Modulates Engrailed-1 Expression to Regulate Skin Appendage Fate. | 5 |
| 28213671 | 2017 | Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. | 13 |
| 28940898 | 2017 | Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. | 9 |
| 28213671 | 2017 | Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. | 13 |
| 28940898 | 2017 | Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. | 9 |
| 26743651 | 2016 | Evidence for genetic regulation of mRNA expression of the dosage-sensitive gene retinoic acid induced-1 (RAI1) in human brain. | 6 |
| 26834045 | 2016 | Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation. | 5 |
| 26743651 | 2016 | Evidence for genetic regulation of mRNA expression of the dosage-sensitive gene retinoic acid induced-1 (RAI1) in human brain. | 6 |
Citation
Dessen P
DEAF1 (DEAF1 transcription factor)
Atlas Genet Cytogenet Oncol Haematol. 2003-11-01
Online version: http://atlasgeneticsoncology.org/gene/40292/deaf1-(deaf1-transcription-factor)
