FARSB
Basic information
Region (hg38): 2:222566898-222656092
Previous symbols: [ "FARSLB" ]
Links
Phenotypes
GenCC
Source:
- Rajab interstitial lung disease with brain calcifications 1 (Strong), mode of inheritance: AR
- Rajab interstitial lung disease with brain calcifications 1 (Moderate), mode of inheritance: AR
- Rajab interstitial lung disease with brain calcifications 1 (Supportive), mode of inheritance: AR
- Rajab interstitial lung disease with brain calcifications 1 (Strong), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Rajab interstitial lung disease with brain calcifications | AR | Cardiovascular; Pulmonary | The condition can include vascular aneurysms as well as severe lung disease, and awareness may allow prompt diagnosis and management; lung transplant has been described | Cardiovascular; Craniofacial; Gastrointestinal; Musculoskeletal; Neurologic; Pulmonary; Renal | 29573043 |
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (115 variants)
- Inborn genetic diseases (23 variants)
- Rajab interstitial lung disease with brain calcifications (6 variants)
- Rajab interstitial lung disease with brain calcifications 1 (4 variants)
- Cirrhosis of liver;Vascular dilatation;Cerebral calcification;Interstitial pneumonitis (2 variants)
- Cirrhosis of liver;Interstitial pneumonitis;Cerebral calcification;Vascular dilatation (2 variants)
- FARSB-related condition (1 variants)
- Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the FARSB gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 23 | 27 | ||||
missense | 63 | 75 | ||||
nonsense | 1 | |||||
start loss | 1 | |||||
frameshift | 3 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 1 | |||||
splice region ? | 2 | 1 | 2 | 5 | ||
non coding ? | 18 | 20 | ||||
Total | 8 | 2 | 65 | 44 | 9 |
Highest pathogenic variant AF is 0.00000657
Variants in FARSB
This is a list of pathogenic ClinVar variants found in the FARSB region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
2-222571867-A-G | FARSB-related disorder | Benign (Nov 21, 2023) | ||
2-222571884-C-A | Uncertain significance (Nov 29, 2022) | |||
2-222571888-C-T | FARSB-related disorder | Benign (Jan 31, 2024) | ||
2-222571891-T-C | Uncertain significance (May 10, 2023) | |||
2-222571898-T-C | Likely benign (Nov 28, 2023) | |||
2-222571915-T-G | Inborn genetic diseases | Uncertain significance (Nov 17, 2022) | ||
2-222571921-G-A | Likely benign (Jul 12, 2022) | |||
2-222571939-C-T | Uncertain significance (Nov 27, 2023) | |||
2-222571940-G-A | FARSB-related disorder | Likely benign (Oct 13, 2023) | ||
2-222571948-G-A | Uncertain significance (Aug 21, 2022) | |||
2-222571967-G-A | Likely benign (Oct 19, 2022) | |||
2-222571969-C-T | Inborn genetic diseases | Likely benign (Jun 29, 2023) | ||
2-222571973-T-C | Likely benign (Jul 01, 2022) | |||
2-222571977-C-A | Uncertain significance (Aug 01, 2023) | |||
2-222571990-T-C | Uncertain significance (Aug 03, 2022) | |||
2-222572000-T-G | FARSB-related disorder | Benign/Likely benign (Oct 27, 2023) | ||
2-222572002-G-A | Uncertain significance (Aug 05, 2022) | |||
2-222572006-G-A | Likely benign (Jun 29, 2022) | |||
2-222572031-G-C | FARSB-related disorder | Likely benign (Aug 25, 2023) | ||
2-222599911-C-T | Rajab interstitial lung disease with brain calcifications 1 | Benign/Likely benign (Nov 27, 2023) | ||
2-222599966-C-G | Uncertain significance (Mar 14, 2022) | |||
2-222599970-G-C | Inborn genetic diseases | Uncertain significance (Jan 03, 2022) | ||
2-222599972-G-A | Inborn genetic diseases | Uncertain significance (Feb 22, 2023) | ||
2-222600017-A-C | Uncertain significance (Mar 18, 2022) | |||
2-222600042-A-G | Uncertain significance (Dec 11, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
FARSB | protein_coding | protein_coding | ENST00000281828 | 17 | 85802 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00330 | 0.997 | 125710 | 0 | 37 | 125747 | 0.000147 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.16 | 259 | 317 | 0.817 | 0.0000160 | 3858 |
Missense in Polyphen | 51 | 91.698 | 0.55617 | 1140 | ||
Synonymous | 0.716 | 103 | 113 | 0.914 | 0.00000600 | 1125 |
Loss of Function | 3.43 | 10 | 30.4 | 0.329 | 0.00000167 | 384 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000386 | 0.000310 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000109 | 0.000109 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000236 | 0.000229 |
Middle Eastern | 0.000109 | 0.000109 |
South Asian | 0.0000328 | 0.0000327 |
Other | 0.000328 | 0.000326 |
dbNSFP
Source:
- Pathway
- Aminoacyl-tRNA biosynthesis - Homo sapiens (human);Phenylalanine and Tyrosine Metabolism;Phenylketonuria;Tyrosinemia Type 3 (TYRO3);Tyrosinemia Type 2 (or Richner-Hanhart syndrome);Amino Acid metabolism;tRNA Aminoacylation;Translation;Metabolism of proteins;tRNA charging;Cytosolic tRNA aminoacylation
(Consensus)
Recessive Scores
- pRec
- 0.153
Intolerance Scores
- loftool
- 0.279
- rvis_EVS
- -0.38
- rvis_percentile_EVS
- 27.88
Haploinsufficiency Scores
- pHI
- 0.651
- hipred
- Y
- hipred_score
- 0.653
- ghis
- 0.612
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.996
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Farsb
- Phenotype
Gene ontology
- Biological process
- translation;phenylalanyl-tRNA aminoacylation;protein heterotetramerization
- Cellular component
- cytoplasm;cytosol;phenylalanine-tRNA ligase complex;membrane
- Molecular function
- magnesium ion binding;RNA binding;phenylalanine-tRNA ligase activity;protein binding;ATP binding