Identity
HGNC
LOCATION
Xp22.2
LOCUSID
ALIAS
71-7A,CXorf5,JBTS10,RP23,SGBS2
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: 8481
MIM: 300170
HGNC: 2567
Ensembl: ENSG00000046651
Variants:
dbSNP: 8481
ClinVar: 8481
TCGA: ENSG00000046651
COSMIC: OFD1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38139355 | 2023 | Extraciliary OFD1 Is Involved in Melanocyte Survival through Cell Adhesion to ECM via Paxillin. | 0 |
| 38139355 | 2023 | Extraciliary OFD1 Is Involved in Melanocyte Survival through Cell Adhesion to ECM via Paxillin. | 0 |
| 32944789 | 2021 | A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation. | 8 |
| 34241634 | 2021 | A ciliopathy complex builds distal appendages to initiate ciliogenesis. | 19 |
| 32944789 | 2021 | A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation. | 8 |
| 34241634 | 2021 | A ciliopathy complex builds distal appendages to initiate ciliogenesis. | 19 |
| 32473706 | 2020 | The centrosomal/basal body protein OFD1 is required for microtubule organization and cell cycle progression. | 9 |
| 32677760 | 2020 | Indian child with novel variant in OFD1 gene. | 0 |
| 32473706 | 2020 | The centrosomal/basal body protein OFD1 is required for microtubule organization and cell cycle progression. | 9 |
| 32677760 | 2020 | Indian child with novel variant in OFD1 gene. | 0 |
| 30401917 | 2019 | Clinical spectrum of male patients with OFD1 mutations. | 6 |
| 30895720 | 2019 | A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia. | 7 |
| 31366608 | 2019 | Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms. | 19 |
| 31373179 | 2019 | The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia. | 20 |
| 30401917 | 2019 | Clinical spectrum of male patients with OFD1 mutations. | 6 |
Citation
Dessen P
OFD1 (OFD1 centriole and centriolar satellite protein)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/71100/gene-fusions/teaching-explorer/
