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: 90167
MIM: 300628
HGNC: 8079
Ensembl: ENSG00000165694
Variants:
dbSNP: 90167
ClinVar: 90167
TCGA: ENSG00000165694
COSMIC: FRMD7
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000165694 | ENST00000298542 | Q6ZUT3 |
| ENSG00000165694 | ENST00000370879 | X6R7S7 |
| ENSG00000165694 | ENST00000464296 | Q6ZUT3 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38279119 | 2024 | Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications. | 0 |
| 38279119 | 2024 | Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications. | 0 |
| 35705619 | 2022 | Correlations of FRMD7 gene mutations with ocular oscillations. | 5 |
| 35762937 | 2022 | Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus. | 1 |
| 35705619 | 2022 | Correlations of FRMD7 gene mutations with ocular oscillations. | 5 |
| 35762937 | 2022 | Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus. | 1 |
| 31495972 | 2020 | Next-generation sequencing identifies a novel frameshift variant in FRMD7 in a Chinese family with idiopathic infantile nystagmus. | 4 |
| 32446246 | 2020 | FRMD7 Mutations Disrupt the Interaction with GABRA2 and May Result in Infantile Nystagmus Syndrome. | 6 |
| 31495972 | 2020 | Next-generation sequencing identifies a novel frameshift variant in FRMD7 in a Chinese family with idiopathic infantile nystagmus. | 4 |
| 32446246 | 2020 | FRMD7 Mutations Disrupt the Interaction with GABRA2 and May Result in Infantile Nystagmus Syndrome. | 6 |
| 30576400 | 2019 | Identification and functional characterization of a novel missense mutation in FRMD7 responsible for idiopathic congenital nystagmus. | 3 |
| 30616528 | 2019 | A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family. | 5 |
| 30618027 | 2019 | A Disease-Causing FRMD7 Variant in a Chinese Family with Infantile Nystagmus. | 4 |
| 30890130 | 2019 | X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review. | 3 |
| 30942644 | 2019 | Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism. | 1 |
Citation
Dessen P
FRMD7 (FERM domain containing 7)
Atlas Genet Cytogenet Oncol Haematol. 2014-01-01
Online version: http://atlasgeneticsoncology.org/gene/53660/frmd7-(ferm-domain-containing-7)
