Information on FARSA
Alt. symbols: FARSL | FARSLA | CML33
Approved name: phenylalanyl-tRNA synthetase subunit alpha
Alt. names: phenylalanine-tRNA synthetase-like, phenylalanyl-tRNA synthetase-like, alpha subunit | phenylalanine tRNA ligase 1, alpha, cytoplasmic
Location: 19p13.13: 12922479 - 12934037 (-)
Gene type: protein_coding, 10 transcripts.
Scores: LoFtool: 0.672000 | pLI: 0.00405072 | LOEUF: 0.526
Gene Ontology (GO)
- Molecular function: phenylalanine-tRNA ligase activity [GO:0004826]
- Cell component: cytoplasm [GO:0005737]; phenylalanine-tRNA ligase complex [GO:0009328]
- Biological process: phenylalanyl-tRNA aminoacylation [GO:0006432]
Normal function
Dysfunction and disease
[Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
RILDBC2 |
FARSA deficiency | AR |
619013 |
0 (0 fams) |
Please mind that curation (inclusion of all reported patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of FARSA
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000314606.9 | CCDS12287 | Select | protein_coding | 13 | Yes | 1811 | NM_004461 |
Published variants
Found 0 variants
| Var.name ⓘ | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that curation (inclusion of all reported gene variants) has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in FARSA
Please mind that curation (inclusion of all relevant literature) has not started yet. Please contact us if you want to volunteer.
| ID | Year | Title | Journal | PMID | Variants |
|---|