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: 27145
MIM: 607307
HGNC: 21015
Ensembl: ENSG00000118407
Variants:
dbSNP: 27145
ClinVar: 27145
TCGA: ENSG00000118407
COSMIC: FILIP1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000118407 | ENST00000237172 | Q7Z7B0 |
| ENSG00000118407 | ENST00000370020 | A0A075B6G6 |
| ENSG00000118407 | ENST00000393004 | Q7Z7B0 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36943452 | 2023 | Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly. | 0 |
| 37163662 | 2023 | Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects. | 1 |
| 36943452 | 2023 | Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly. | 0 |
| 37163662 | 2023 | Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects. | 1 |
| 34000624 | 2021 | Clinically relevant aberrant Filip1l DNA methylation detected in a murine model of cutaneous squamous cell carcinoma. | 5 |
| 34000624 | 2021 | Clinically relevant aberrant Filip1l DNA methylation detected in a murine model of cutaneous squamous cell carcinoma. | 5 |
| 23087206 | 2012 | RhoD regulates cytoskeletal dynamics via the actin nucleation-promoting factor WASp homologue associated with actin Golgi membranes and microtubules. | 30 |
| 23087206 | 2012 | RhoD regulates cytoskeletal dynamics via the actin nucleation-promoting factor WASp homologue associated with actin Golgi membranes and microtubules. | 30 |
Citation
Dessen P
FILIP1 (filamin A interacting protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-06-01
Online version: http://atlasgeneticsoncology.org/gene/53944/filip1-(filamin-a-interacting-protein-1)
