Identity
HGNC
LOCATION
9q31.3
LOCUSID
ALIAS
C9orf4,CG-6,CG6,DEE37,EIEE37
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: 23732
MIM: 604574
HGNC: 1362
Ensembl: ENSG00000260230
Variants:
dbSNP: 23732
ClinVar: 23732
TCGA: ENSG00000260230
COSMIC: FRRS1L
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000260230 | ENST00000561981 | Q9P0K9 |
| ENSG00000260230 | ENST00000642299 | A0A2R8Y5Y6 |
| ENSG00000260230 | ENST00000644736 | A0A2R8YDG8 |
| ENSG00000260230 | ENST00000644747 | A0A2R8Y4E4 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35815844 | 2023 | Continuous Spikes and Waves During Sleep (CSWS), Severe Epileptic Encephalopathy, and Choreoathetosis due to Mutations in FRRS1L. | 2 |
| 35815844 | 2023 | Continuous Spikes and Waves During Sleep (CSWS), Severe Epileptic Encephalopathy, and Choreoathetosis due to Mutations in FRRS1L. | 2 |
| 36330921 | 2022 | Movement disorder caused by FRRS1L deficiency may be associated with morphological and functional disorders in Purkinje cells. | 1 |
| 36330921 | 2022 | Movement disorder caused by FRRS1L deficiency may be associated with morphological and functional disorders in Purkinje cells. | 1 |
| 32928027 | 2021 | Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements. | 1 |
| 32928027 | 2021 | Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements. | 1 |
| 27236917 | 2016 | Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. | 19 |
| 27236917 | 2016 | Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. | 19 |
Citation
Dessen P
FRRS1L (ferric chelate reductase 1 like)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/63605/submit-meetings/
