FARSA (phenylalanyl-tRNA synthetase subunit alpha) - Rat Genome Database
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Gene: FARSA (phenylalanyl-tRNA synthetase subunit alpha) Homo sapiens
Analyze
Symbol: FARSA
Name: phenylalanyl-tRNA synthetase subunit alpha
RGD ID: 1321146
HGNC Page HGNC
Description: Exhibits phenylalanine-tRNA ligase activity. Involved in phenylalanyl-tRNA aminoacylation and protein heterotetramerization. Localizes to phenylalanine-tRNA ligase complex.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: CML33; FARSL; FARSLA; FRSA; PheHA; phenylalanine tRNA ligase 1, alpha, cytoplasmic; phenylalanine--tRNA ligase alpha chain; phenylalanine--tRNA ligase alpha subunit; phenylalanine-tRNA synthetase alpha-subunit; phenylalanine-tRNA synthetase-like, alpha subunit; phenylalanyl-tRNA synthetase alpha chain; phenylalanyl-tRNA synthetase alpha subunit; phenylalanyl-tRNA synthetase, alpha subunit; phenylalanyl-tRNA synthetase-like, alpha subunit; pheRS; RILDBC2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1912,922,479 - 12,934,037 (-)EnsemblGRCh38hg38GRCh38
GRCh381912,922,479 - 12,933,711 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371913,033,284 - 13,044,558 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361912,894,284 - 12,905,558 (-)NCBINCBI36hg18NCBI36
Build 341912,894,292 - 12,905,522NCBI
Celera1912,923,020 - 12,934,291 (-)NCBI
Cytogenetic Map19p13.13NCBI
HuRef1912,605,186 - 12,616,461 (-)NCBIHuRef
CHM1_11913,033,781 - 13,045,058 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,IEA)
cytosol  (IBA,TAS)
membrane  (HDA)
phenylalanine-tRNA ligase complex  (IBA,IDA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:9177188   PMID:10049785   PMID:11829477   PMID:11858721   PMID:12477932   PMID:12665801   PMID:14702039   PMID:15057824   PMID:15489334   PMID:16169070   PMID:16196087   PMID:17110338  
PMID:18029348   PMID:19165527   PMID:19615732   PMID:19946888   PMID:20223217   PMID:20348541   PMID:21139048   PMID:21145461   PMID:21163940   PMID:21280222   PMID:21873635   PMID:21890473  
PMID:21903422   PMID:21906983   PMID:21963094   PMID:21987572   PMID:21988832   PMID:22268729   PMID:22505724   PMID:22681889   PMID:22863883   PMID:22939629   PMID:23178491   PMID:23222517  
PMID:23398456   PMID:24324551   PMID:24337577   PMID:24550385   PMID:24797263   PMID:24816145   PMID:24965446   PMID:25071155   PMID:25147182   PMID:25187353   PMID:25315684   PMID:25416956  
PMID:25437307   PMID:25921289   PMID:25963833   PMID:26170170   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26549023   PMID:26638075   PMID:26972000   PMID:27025967   PMID:27503909  
PMID:27591049   PMID:27684187   PMID:28514442   PMID:28515276   PMID:28685749   PMID:28902428   PMID:29128334   PMID:29229926   PMID:29298432   PMID:29331416   PMID:29395067   PMID:29573043  
PMID:29656893   PMID:29845934   PMID:29955894   PMID:30033366   PMID:30154076   PMID:30196744   PMID:30209976   PMID:30224337   PMID:30425250   PMID:30463901   PMID:30619736   PMID:30745168  
PMID:30833792   PMID:30940648   PMID:30948266   PMID:31073040   PMID:31091453   PMID:31355908   PMID:31527615   PMID:31586073   PMID:31620119   PMID:31685992   PMID:31732153   PMID:31980649  
PMID:32203420   PMID:32296183   PMID:32457219  


Genomics

Comparative Map Data
FARSA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1912,922,479 - 12,934,037 (-)EnsemblGRCh38hg38GRCh38
GRCh381912,922,479 - 12,933,711 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371913,033,284 - 13,044,558 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361912,894,284 - 12,905,558 (-)NCBINCBI36hg18NCBI36
Build 341912,894,292 - 12,905,522NCBI
Celera1912,923,020 - 12,934,291 (-)NCBI
Cytogenetic Map19p13.13NCBI
HuRef1912,605,186 - 12,616,461 (-)NCBIHuRef
CHM1_11913,033,781 - 13,045,058 (-)NCBICHM1_1
Farsa
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39885,583,597 - 85,595,886 (+)NCBIGRCm39mm39
GRCm38884,856,969 - 84,869,257 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl884,856,989 - 84,869,257 (+)EnsemblGRCm38mm10GRCm38
MGSCv37887,380,885 - 87,393,156 (+)NCBIGRCm37mm9NCBIm37
MGSCv36887,747,129 - 87,757,131 (+)NCBImm8
Celera889,156,659 - 89,168,787 (+)NCBICelera
Cytogenetic Map8C3NCBI
Farsa
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01925,969,255 - 25,978,777 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1925,969,255 - 25,978,776 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01936,944,878 - 36,954,400 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41924,947,663 - 24,957,186 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11924,952,488 - 24,962,012 (-)NCBI
Celera1922,848,305 - 22,857,809 (-)NCBICelera
Cytogenetic Map19q11NCBI
Farsa
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541531,968,980 - 31,981,424 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541531,972,888 - 31,981,424 (-)NCBIChiLan1.0ChiLan1.0
FARSA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11913,227,193 - 13,238,085 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1913,227,193 - 13,238,244 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01912,484,607 - 12,496,160 (-)NCBIMhudiblu_PPA_v0panPan3
FARSA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2049,258,845 - 49,267,198 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12049,258,827 - 49,267,279 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Farsa
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049366591,982,343 - 1,990,277 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FARSA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl266,105,428 - 66,118,191 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1266,105,393 - 66,114,867 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2266,271,545 - 66,280,456 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FARSA
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl611,600,516 - 11,613,345 (-)Ensembl
ChlSab1.1611,602,352 - 11,613,851 (-)NCBI
Farsa
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624901492,673 - 505,815 (-)NCBI

Position Markers
RH98885  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,033,481 - 13,033,657UniSTSGRCh37
Build 361912,894,481 - 12,894,657RGDNCBI36
Celera1912,923,217 - 12,923,393RGD
Cytogenetic Map19p13.2UniSTS
HuRef1912,605,383 - 12,605,559UniSTS
GeneMap99-GB4 RH Map1971.17UniSTS
RH46987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371913,033,316 - 13,033,500UniSTSGRCh37
Build 361912,894,316 - 12,894,500RGDNCBI36
Celera1912,923,052 - 12,923,236RGD
Cytogenetic Map19p13.2UniSTS
HuRef1912,605,218 - 12,605,402UniSTS
GeneMap99-GB4 RH Map1971.17UniSTS
NCBI RH Map1987.9UniSTS
RH70803  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19p13.2UniSTS
HuRef1912,605,435 - 12,605,580UniSTS
GeneMap99-GB4 RH Map1971.17UniSTS
NCBI RH Map1987.9UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3238
Count of miRNA genes:852
Interacting mature miRNAs:1023
Transcripts:ENST00000314606, ENST00000423140, ENST00000586146, ENST00000586280, ENST00000587488, ENST00000587981, ENST00000588025, ENST00000588965, ENST00000592662, ENST00000593021
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2
Medium 2433 2693 1702 601 1759 442 4356 2101 3593 415 1456 1611 175 1 1204 2787 6 2
Low 6 298 24 23 192 23 1 96 141 4 2 2 1
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000314606   ⟹   ENSP00000320309
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,922,479 - 12,933,711 (-)Ensembl
RefSeq Acc Id: ENST00000423140   ⟹   ENSP00000396548
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,922,480 - 12,933,714 (-)Ensembl
RefSeq Acc Id: ENST00000586146   ⟹   ENSP00000468068
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,922,530 - 12,933,696 (-)Ensembl
RefSeq Acc Id: ENST00000586280
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,928,410 - 12,933,642 (-)Ensembl
RefSeq Acc Id: ENST00000587488   ⟹   ENSP00000468384
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,922,545 - 12,928,439 (-)Ensembl
RefSeq Acc Id: ENST00000587981   ⟹   ENSP00000465402
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,930,307 - 12,933,711 (-)Ensembl
RefSeq Acc Id: ENST00000588025   ⟹   ENSP00000468051
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,922,479 - 12,934,037 (-)Ensembl
RefSeq Acc Id: ENST00000588965
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,922,540 - 12,933,696 (-)Ensembl
RefSeq Acc Id: ENST00000592662
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,928,398 - 12,933,698 (-)Ensembl
RefSeq Acc Id: ENST00000593021   ⟹   ENSP00000467384
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1912,924,151 - 12,933,680 (-)Ensembl
RefSeq Acc Id: NM_004461   ⟹   NP_004452
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,922,479 - 12,933,711 (-)NCBI
GRCh371913,033,284 - 13,044,558 (-)RGD
Build 361912,894,284 - 12,905,558 (-)NCBI Archive
Celera1912,923,020 - 12,934,291 (-)RGD
HuRef1912,605,186 - 12,616,461 (-)ENTREZGENE
CHM1_11913,033,781 - 13,045,058 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004452   ⟸   NM_004461
- UniProtKB: Q9Y285 (UniProtKB/Swiss-Prot),   Q6IBR2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000396548   ⟸   ENST00000423140
RefSeq Acc Id: ENSP00000468068   ⟸   ENST00000586146
RefSeq Acc Id: ENSP00000468384   ⟸   ENST00000587488
RefSeq Acc Id: ENSP00000465402   ⟸   ENST00000587981
RefSeq Acc Id: ENSP00000468051   ⟸   ENST00000588025
RefSeq Acc Id: ENSP00000320309   ⟸   ENST00000314606
RefSeq Acc Id: ENSP00000467384   ⟸   ENST00000593021
Promoters
RGD ID:6811568
Promoter ID:HG_ACW:40065
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:FARSA.IAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 361912,894,276 - 12,894,776 (-)MPROMDB
RGD ID:6795545
Promoter ID:HG_KWN:29041
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_004461,   UC002MVT.2,   UC010DYY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361912,905,151 - 12,905,651 (-)MPROMDB
RGD ID:6851380
Promoter ID:EP73489
Type:multiple initiation site
Name:HS_FARSL
Description:Phenylalanine-tRNA synthetase-like.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361912,905,525 - 12,905,585EPD
RGD ID:7238749
Promoter ID:EPDNEW_H25121
Type:initiation region
Name:FARSA_1
Description:phenylalanyl-tRNA synthetase alpha subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381912,933,711 - 12,933,771EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 copy number gain See cases [RCV000052908] Chr19:8831147..13331227 [GRCh38]
Chr19:8941823..13442041 [GRCh37]
Chr19:8802823..13303041 [NCBI36]
Chr19:19p13.2-13.13
likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 copy number gain See cases [RCV000052909] Chr19:10315258..14048994 [GRCh38]
Chr19:10425934..14159806 [GRCh37]
Chr19:10286934..14020806 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3 copy number gain See cases [RCV000052910] Chr19:12132052..14751798 [GRCh38]
Chr19:12242867..14862610 [GRCh37]
Chr19:12103867..14723610 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3 copy number gain See cases [RCV000052911] Chr19:12850595..13290954 [GRCh38]
Chr19:12961409..13401768 [GRCh37]
Chr19:12822409..13262768 [NCBI36]
Chr19:19p13.13
pathogenic
GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3 copy number gain See cases [RCV000054144] Chr19:12813597..13119698 [GRCh38]
Chr19:12924411..13230512 [GRCh37]
Chr19:12785411..13091512 [NCBI36]
Chr19:19p13.13
uncertain significance
GRCh38/hg38 19p13.2-13.12(chr19:11227942-14532135)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|See cases [RCV000053944] Chr19:11227942..14532135 [GRCh38]
Chr19:11338618..14642947 [GRCh37]
Chr19:11199618..14503947 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1 copy number loss See cases [RCV000053945] Chr19:11517825..13225287 [GRCh38]
Chr19:11628640..13336101 [GRCh37]
Chr19:11489640..13197101 [NCBI36]
Chr19:19p13.2-13.13
pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1 copy number loss See cases [RCV000135937] Chr19:12580427..14742673 [GRCh38]
Chr19:12691241..14853485 [GRCh37]
Chr19:12552241..14714485 [NCBI36]
Chr19:19p13.2-13.12
pathogenic|likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1 copy number loss See cases [RCV000136909] Chr19:11525163..14155021 [GRCh38]
Chr19:11635978..14265833 [GRCh37]
Chr19:11496978..14126833 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 copy number loss See cases [RCV000141568] Chr19:10319474..13777860 [GRCh38]
Chr19:10430150..13888674 [GRCh37]
Chr19:10291150..13749674 [NCBI36]
Chr19:19p13.2-13.13
pathogenic
GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1 copy number loss See cases [RCV000449161] Chr19:12204632..13497073 [GRCh37]
Chr19:19p13.2
pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) copy number gain See cases [RCV000446985] Chr19:9678768..14853426 [GRCh37]
Chr19:19p13.2-13.12
pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1 copy number loss See cases [RCV000511130] Chr19:12574343..14726197 [GRCh37]
Chr19:19p13.2-13.12
pathogenic
GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3 copy number gain See cases [RCV000511013] Chr19:11608072..14543046 [GRCh37]
Chr19:19p13.2-13.12
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1 copy number loss not provided [RCV000846538] Chr19:12354642..13424014 [GRCh37]
Chr19:19p13.2
pathogenic
NM_004461.3(FARSA):c.1012C>T (p.Arg338Cys) single nucleotide variant not provided [RCV001091774] Chr19:12924918 [GRCh38]
Chr19:13035732 [GRCh37]
Chr19:19p13.13
uncertain significance
NM_004461.3(FARSA):c.766T>C (p.Phe256Leu) single nucleotide variant RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 [RCV001255421] Chr19:12928417 [GRCh38]
Chr19:13039231 [GRCh37]
Chr19:19p13.13
pathogenic
NM_004461.3(FARSA):c.1230C>A (p.Asn410Lys) single nucleotide variant RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 [RCV001255422] Chr19:12924492 [GRCh38]
Chr19:13035306 [GRCh37]
Chr19:19p13.13
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3592 AgrOrtholog
COSMIC FARSA COSMIC
Ensembl Genes ENSG00000179115 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000320309 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000396548 UniProtKB/Swiss-Prot
  ENSP00000465402 UniProtKB/TrEMBL
  ENSP00000467384 UniProtKB/TrEMBL
  ENSP00000468051 UniProtKB/TrEMBL
  ENSP00000468068 UniProtKB/TrEMBL
  ENSP00000468384 UniProtKB/TrEMBL
Ensembl Transcript ENST00000314606 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000423140 UniProtKB/Swiss-Prot
  ENST00000586146 UniProtKB/TrEMBL
  ENST00000587488 UniProtKB/TrEMBL
  ENST00000587981 UniProtKB/TrEMBL
  ENST00000588025 UniProtKB/TrEMBL
  ENST00000593021 UniProtKB/TrEMBL
GTEx ENSG00000179115 GTEx
HGNC ID HGNC:3592 ENTREZGENE
Human Proteome Map FARSA Human Proteome Map
InterPro aa-tRNA-synth_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phe-tRNA-synth_IIc_asu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phenylalanyl-tRNA_Synthase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PheRS_DBD1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PheRS_DBD2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PheRS_DBD3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2193 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2193 ENTREZGENE
OMIM 602918 OMIM
  619013 OMIM
Pfam PheRS_DBD1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PheRS_DBD2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PheRS_DBD3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  tRNA-synt_2d UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28005 PharmGKB
PROSITE AA_TRNA_LIGASE_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs pheS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.23111 ENTREZGENE
UniProt K7EK06_HUMAN UniProtKB/TrEMBL
  K7EPH2_HUMAN UniProtKB/TrEMBL
  K7ER00_HUMAN UniProtKB/TrEMBL
  K7ER16_HUMAN UniProtKB/TrEMBL
  K7ERS0_HUMAN UniProtKB/TrEMBL
  Q6IBR2 ENTREZGENE, UniProtKB/TrEMBL
  Q9Y285 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B4E363 UniProtKB/Swiss-Prot
  Q9NSD8 UniProtKB/Swiss-Prot
  Q9Y4W8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-01 FARSA  phenylalanyl-tRNA synthetase subunit alpha    phenylalanyl-tRNA synthetase alpha subunit  Symbol and/or name change 5135510 APPROVED
2015-11-10 FARSA  phenylalanyl-tRNA synthetase alpha subunit    phenylalanyl-tRNA synthetase, alpha subunit  Symbol and/or name change 5135510 APPROVED
2011-09-01 FARSA  phenylalanyl-tRNA synthetase, alpha subunit  FARSA  phenylalanyl-tRNA synthetase, alpha subunit  Symbol and/or name change 5135510 APPROVED