FARSB (phenylalanyl-tRNA synthetase subunit beta) - Rat Genome Database

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Gene: FARSB (phenylalanyl-tRNA synthetase subunit beta) Homo sapiens
Analyze
Symbol: FARSB
Name: phenylalanyl-tRNA synthetase subunit beta
RGD ID: 1348852
HGNC Page HGNC:17800
Description: Enables phenylalanine-tRNA ligase activity. Involved in phenylalanyl-tRNA aminoacylation and protein heterotetramerization. Located in membrane. Part of phenylalanine-tRNA ligase complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FARSLB; FRSB; HSPC173; NEDBLLA; PheHB; phenylalanine tRNA ligase 1, beta, cytoplasmic; phenylalanine--tRNA ligase beta chain; phenylalanine--tRNA ligase beta subunit; phenylalanine-tRNA ligase beta chain; phenylalanine-tRNA synthetase-like, beta subunit; phenylalanyl-tRNA synthetase beta chain; phenylalanyl-tRNA synthetase beta subunit; phenylalanyl-tRNA synthetase beta-subunit; phenylalanyl-tRNA synthetase, beta subunit; phenylalanyl-tRNA synthetase-like, beta subunit; PheRS; RILDBC; RILDBC1; RJBS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: FARSBP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382222,566,899 - 222,656,092 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2222,566,899 - 222,656,092 (-)EnsemblGRCh38hg38GRCh38
GRCh372223,431,618 - 223,520,811 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362223,144,406 - 223,229,071 (-)NCBINCBI36Build 36hg18NCBI36
Build 342223,260,760 - 223,346,310NCBI
Celera2217,204,356 - 217,288,733 (-)NCBICelera
Cytogenetic Map2q36.1NCBI
HuRef2215,289,904 - 215,374,144 (-)NCBIHuRef
CHM1_12223,442,666 - 223,527,209 (-)NCBICHM1_1
T2T-CHM13v2.02223,052,236 - 223,141,156 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-amino-2,6-dinitrotoluene  (ISO)
4-phenylbutyric acid  (EXP)
actinomycin D  (EXP)
all-trans-retinoic acid  (EXP)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
chloropicrin  (EXP)
chromium(6+)  (ISO)
cisplatin  (EXP)
clofibric acid  (ISO)
clozapine  (EXP)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
cylindrospermopsin  (EXP)
DDE  (EXP)
dibenzo[a,l]pyrene  (ISO)
diethylstilbestrol  (EXP)
dioxygen  (EXP)
disodium selenite  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
fenthion  (ISO)
flutamide  (ISO)
formaldehyde  (EXP)
glafenine  (ISO)
hydrogen peroxide  (EXP)
irinotecan  (EXP)
ivermectin  (EXP)
lead(0)  (EXP)
menadione  (EXP)
methidathion  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nimesulide  (ISO)
Nutlin-3  (EXP)
paraquat  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
pirinixic acid  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
Soman  (ISO)
sunitinib  (EXP)
tanespimycin  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

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

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal pulmonary interstitial morphology  (IAGP)
Anasarca  (IAGP)
Anemia  (IAGP)
Ascites  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial hypotonia  (IAGP)
Bile duct proliferation  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral calcification  (IAGP)
Cholestasis  (IAGP)
Cirrhosis  (IAGP)
Cough  (IAGP)
Decreased circulating vitamin D concentration  (IAGP)
Decreased liver function  (IAGP)
Deeply set eye  (IAGP)
Delayed skeletal maturation  (IAGP)
Dilatation of the cerebral artery  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Emphysema  (IAGP)
Esophageal varix  (IAGP)
Exercise intolerance  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Fetal onset  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Headache  (IAGP)
Hepatic steatosis  (IAGP)
High palate  (IAGP)
Hypoalbuminemia  (IAGP)
Hypocalcemia  (IAGP)
Hypoglycemia  (IAGP)
Hypotelorism  (IAGP)
Hypotonia  (IAGP)
Infantile onset  (IAGP)
Inguinal hernia  (IAGP)
Interstitial pneumonitis  (IAGP)
Intestinal malrotation  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint hypermobility  (IAGP)
Microcephaly  (IAGP)
Oligohydramnios  (IAGP)
Osteopenia  (IAGP)
Pancytopenia  (IAGP)
Pectus excavatum  (IAGP)
Persistent head lag  (IAGP)
Portal hypertension  (IAGP)
Prominent forehead  (IAGP)
Recurrent urinary tract infections  (IAGP)
Reduced bone mineral density  (IAGP)
Reduced circulating vitamin A concentration  (IAGP)
Respiratory failure  (IAGP)
Respiratory insufficiency  (IAGP)
Rickets  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Slender build  (IAGP)
Small for gestational age  (IAGP)
Small scrotum  (IAGP)
Specific learning disability  (IAGP)
Tachypnea  (IAGP)
Thin bony cortex  (IAGP)
Unconjugated hyperbilirubinemia  (IAGP)
Vascular dilatation  (IAGP)
Vomiting  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:658405   PMID:1741281   PMID:9177188   PMID:10049785   PMID:10375616   PMID:11042152   PMID:11858721   PMID:12477932   PMID:12962494   PMID:14702039   PMID:14980694   PMID:15000680  
PMID:15047060   PMID:15489334   PMID:15635413   PMID:19738201   PMID:19946888   PMID:20223217   PMID:20379614   PMID:20433702   PMID:20562859   PMID:21596488   PMID:21873635   PMID:21903422  
PMID:21907836   PMID:22137894   PMID:22623428   PMID:22658674   PMID:22863883   PMID:22939629   PMID:25437307   PMID:25609649   PMID:25921289   PMID:25963833   PMID:26186194   PMID:26344197  
PMID:26752685   PMID:27025967   PMID:27565346   PMID:27684187   PMID:28031328   PMID:28514442   PMID:28515276   PMID:28675297   PMID:28846114   PMID:28973437   PMID:29229926   PMID:29298432  
PMID:29467282   PMID:29509190   PMID:29568061   PMID:29573043   PMID:29845934   PMID:29955894   PMID:30014610   PMID:30033366   PMID:30154076   PMID:30196744   PMID:30463901   PMID:30619736  
PMID:30711629   PMID:30833792   PMID:30884312   PMID:30890647   PMID:30948266   PMID:31073040   PMID:31091453   PMID:31182584   PMID:31280863   PMID:31300519   PMID:31355908   PMID:31527615  
PMID:31540324   PMID:31586073   PMID:31620119   PMID:31685992   PMID:31871319   PMID:31980649   PMID:31995728   PMID:32296183   PMID:32416067   PMID:32456285   PMID:32786267   PMID:32814053  
PMID:32941674   PMID:32963011   PMID:33106477   PMID:33306668   PMID:33545068   PMID:33567341   PMID:33853758   PMID:33916271   PMID:33961781   PMID:34133714   PMID:34159625   PMID:34189442  
PMID:34349018   PMID:34373451   PMID:34591612   PMID:34728620   PMID:34943047   PMID:35032548   PMID:35256949   PMID:35271311   PMID:35446349   PMID:35509820   PMID:35562734   PMID:35831314  
PMID:35915203   PMID:35944360   PMID:36057605   PMID:36114006   PMID:36168627   PMID:36215168   PMID:36244648   PMID:36373674   PMID:36517590   PMID:36526897   PMID:37059091   PMID:37071682  
PMID:37120454   PMID:37167062   PMID:37249651   PMID:37267103   PMID:37314180   PMID:37317656   PMID:37827155   PMID:38069034   PMID:38113892   PMID:39147351   PMID:39231216  


Genomics

Comparative Map Data
FARSB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382222,566,899 - 222,656,092 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2222,566,899 - 222,656,092 (-)EnsemblGRCh38hg38GRCh38
GRCh372223,431,618 - 223,520,811 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362223,144,406 - 223,229,071 (-)NCBINCBI36Build 36hg18NCBI36
Build 342223,260,760 - 223,346,310NCBI
Celera2217,204,356 - 217,288,733 (-)NCBICelera
Cytogenetic Map2q36.1NCBI
HuRef2215,289,904 - 215,374,144 (-)NCBIHuRef
CHM1_12223,442,666 - 223,527,209 (-)NCBICHM1_1
T2T-CHM13v2.02223,052,236 - 223,141,156 (-)NCBIT2T-CHM13v2.0
Farsb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39178,394,593 - 78,465,530 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl178,394,612 - 78,465,534 (-)EnsemblGRCm39 Ensembl
GRCm38178,417,958 - 78,488,897 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl178,417,975 - 78,488,897 (-)EnsemblGRCm38mm10GRCm38
MGSCv37178,421,411 - 78,485,421 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36178,307,983 - 78,371,993 (-)NCBIMGSCv36mm8
Celera178,895,232 - 78,957,096 (-)NCBICelera
Cytogenetic Map1C4NCBI
cM Map140.44NCBI
Farsb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8987,336,321 - 87,395,546 (-)NCBIGRCr8
mRatBN7.2979,887,852 - 79,947,082 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl979,887,842 - 79,947,045 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx988,317,637 - 88,376,818 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0993,430,056 - 93,490,053 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0991,829,079 - 91,888,260 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0984,324,456 - 84,383,674 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl984,324,442 - 84,383,687 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0984,083,341 - 84,142,523 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4977,806,573 - 77,865,757 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1977,989,996 - 78,049,176 (-)NCBI
Celera977,396,205 - 77,455,355 (-)NCBICelera
Cytogenetic Map9q33NCBI
Farsb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545311,176,432 - 11,240,780 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545311,176,481 - 11,237,243 (+)NCBIChiLan1.0ChiLan1.0
FARSB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213125,186,179 - 125,414,446 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B125,201,208 - 125,429,414 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B109,813,000 - 109,897,159 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B228,394,238 - 228,478,345 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B228,394,238 - 228,478,345 (-)Ensemblpanpan1.1panPan2
FARSB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13728,647,114 - 28,716,193 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3728,647,115 - 28,716,198 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3729,483,532 - 29,552,756 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03728,671,627 - 28,741,798 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.13728,583,297 - 28,652,114 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03728,515,013 - 28,583,765 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03728,533,289 - 28,602,513 (-)NCBIUU_Cfam_GSD_1.0
Farsb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303178,181,689 - 178,261,741 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365694,523,046 - 4,604,560 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365694,524,525 - 4,604,539 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FARSB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.115124,472,236 - 124,555,042 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215137,963,814 - 137,984,032 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FARSB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110108,492,463 - 108,568,226 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl10108,492,652 - 108,568,293 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604090,804,343 - 90,888,983 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Farsb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248232,559,756 - 2,627,606 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248232,559,757 - 2,627,606 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FARSB
157 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005687.5(FARSB):c.1202G>A (p.Arg401Gln) single nucleotide variant Rajab interstitial lung disease with brain calcifications [RCV000754848]|Vascular dilatation [RCV000656702] Chr2:222623699 [GRCh38]
Chr2:223488418 [GRCh37]
Chr2:2q36.1		 pathogenic
NM_005687.5(FARSB):c.1486delinsAA (p.His496fs) indel Rajab interstitial lung disease with brain calcifications [RCV000656392]|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000677233]|not provided [RCV001008065] Chr2:222600060 [GRCh38]
Chr2:223464779 [GRCh37]
Chr2:2q36.1		 pathogenic|likely pathogenic
NM_005687.5(FARSB):c.914G>A (p.Arg305Gln) single nucleotide variant Rajab interstitial lung disease with brain calcifications [RCV000754847]|not provided [RCV000656487] Chr2:222624762 [GRCh38]
Chr2:223489481 [GRCh37]
Chr2:2q36.1		 pathogenic|likely pathogenic
NM_005687.5(FARSB):c.848+1G>A single nucleotide variant Rajab interstitial lung disease with brain calcifications 1 [RCV002499132]|Rajab interstitial lung disease with brain calcifications [RCV000754845]|not provided [RCV000656486] Chr2:222630112 [GRCh38]
Chr2:223494831 [GRCh37]
Chr2:2q36.1		 pathogenic|likely pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1 copy number loss See cases [RCV000052634] Chr2:219081620..225430308 [GRCh38]
Chr2:219946342..226295024 [GRCh37]
Chr2:219654586..226003268 [NCBI36]
Chr2:2q35-36.3		 pathogenic
GRCh38/hg38 2q36.1-36.2(chr2:221387419-224669350)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052635]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052635]|See cases [RCV000052635] Chr2:221387419..224669350 [GRCh38]
Chr2:222252139..225534067 [GRCh37]
Chr2:221960383..225242311 [NCBI36]
Chr2:2q36.1-36.2		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] Chr2:212614422..227121230 [GRCh38]
Chr2:213479146..227985946 [GRCh37]
Chr2:213187391..227694190 [NCBI36]
Chr2:2q34-36.3		 pathogenic
GRCh38/hg38 2q35-36.3(chr2:219547204-228287942)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052965]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052965]|See cases [RCV000052965] Chr2:219547204..228287942 [GRCh38]
Chr2:220411926..229152658 [GRCh37]
Chr2:220120170..228860902 [NCBI36]
Chr2:2q35-36.3		 pathogenic
NM_005687.4(FARSB):c.1684G>A (p.Gly562Arg) single nucleotide variant Malignant melanoma [RCV000065424] Chr2:222571957 [GRCh38]
Chr2:223436676 [GRCh37]
Chr2:223144920 [NCBI36]
Chr2:2q36.1		 not provided
NM_005687.5(FARSB):c.292C>T (p.Arg98Trp) single nucleotide variant Inborn genetic diseases [RCV004036557]|not provided [RCV001348416] Chr2:222640909 [GRCh38]
Chr2:223505628 [GRCh37]
Chr2:2q36.1		 uncertain significance
GRCh38/hg38 2q36.1-36.2(chr2:221663502-224426183)x1 copy number loss See cases [RCV000135355] Chr2:221663502..224426183 [GRCh38]
Chr2:222528222..225290900 [GRCh37]
Chr2:222236466..224999144 [NCBI36]
Chr2:2q36.1-36.2		 pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3		 pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3		 pathogenic
NM_005687.4(FARSB):c.848+1G>A single nucleotide variant Rajab syndrome [RCV000754845]   pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3 copy number gain See cases [RCV000448049] Chr2:219966808..237815985 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074)x1 copy number loss See cases [RCV000448773] Chr2:223378640..232061074 [GRCh37]
Chr2:2q36.1-37.1		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3 copy number gain See cases [RCV000511816] Chr2:222077224..239394441 [GRCh37]
Chr2:2q36.1-37.3		 pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_005687.5(FARSB):c.784A>G (p.Lys262Glu) single nucleotide variant Vascular dilatation [RCV000656689] Chr2:222631606 [GRCh38]
Chr2:223496325 [GRCh37]
Chr2:2q36.1		 pathogenic
NM_005687.5(FARSB):c.1381A>C (p.Thr461Pro) single nucleotide variant Rajab interstitial lung disease with brain calcifications [RCV000754849]|Vascular dilatation [RCV000656663] Chr2:222613892 [GRCh38]
Chr2:223478611 [GRCh37]
Chr2:2q36.1		 pathogenic
NM_005687.5(FARSB):c.767C>T (p.Thr256Met) single nucleotide variant Rajab interstitial lung disease with brain calcifications [RCV000656391]|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV000677232] Chr2:222631623 [GRCh38]
Chr2:223496342 [GRCh37]
Chr2:2q36.1		 pathogenic|likely pathogenic
NM_005687.5(FARSB):c.755T>C (p.Phe252Ser) single nucleotide variant Rajab interstitial lung disease with brain calcifications [RCV000754850]|Vascular dilatation [RCV000656728] Chr2:222631635 [GRCh38]
Chr2:223496354 [GRCh37]
Chr2:2q36.1		 pathogenic
GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1 copy number loss not provided [RCV000585275] Chr2:217374144..227643620 [GRCh37]
Chr2:2q35-36.3		 likely pathogenic
NM_005687.5(FARSB):c.226T>C (p.Cys76Arg) single nucleotide variant Vascular dilatation [RCV000656729] Chr2:222642894 [GRCh38]
Chr2:223507613 [GRCh37]
Chr2:2q36.1		 pathogenic
NM_005687.5(FARSB):c.853G>A (p.Glu285Lys) single nucleotide variant Rajab interstitial lung disease with brain calcifications 1 [RCV004595857]|Rajab interstitial lung disease with brain calcifications [RCV000754846]|not provided [RCV003727804] Chr2:222628884 [GRCh38]
Chr2:223493603 [GRCh37]
Chr2:2q36.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2q35-36.3(chr2:221439250-226170404)x1 copy number loss not provided [RCV000682155] Chr2:221439250..226170404 [GRCh37]
Chr2:2q35-36.3		 pathogenic
GRCh37/hg19 2q35-36.2(chr2:220614743-225587770)x1 copy number loss not provided [RCV000682158] Chr2:220614743..225587770 [GRCh37]
Chr2:2q35-36.2		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1 copy number loss not provided [RCV000682163] Chr2:218813434..227450699 [GRCh37]
Chr2:2q35-36.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q35-36.1(chr2:220608798-224217756)x1 copy number loss not provided [RCV000740901] Chr2:220608798..224217756 [GRCh37]
Chr2:2q35-36.1		 pathogenic
NM_005687.4:c.1381A>C single nucleotide variant Rajab syndrome [RCV000754849] Chr2:2q36.1 pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3		 pathogenic
NM_005687.5(FARSB):c.573G>T (p.Glu191Asp) single nucleotide variant Inborn genetic diseases [RCV003249752] Chr2:222634424 [GRCh38]
Chr2:223499143 [GRCh37]
Chr2:2q36.1		 uncertain significance
GRCh37/hg19 2q35-36.3(chr2:220056891-227164817)x1 copy number loss not provided [RCV001537914] Chr2:220056891..227164817 [GRCh37]
Chr2:2q35-36.3		 pathogenic
GRCh37/hg19 2q36.1(chr2:222621434-224754689)x1 copy number loss not provided [RCV001259185] Chr2:222621434..224754689 [GRCh37]
Chr2:2q36.1		 pathogenic
GRCh37/hg19 2q36.1(chr2:223277982-223757490)x3 copy number gain not provided [RCV001259186] Chr2:223277982..223757490 [GRCh37]
Chr2:2q36.1		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
NM_005687.5(FARSB):c.1170+12C>T single nucleotide variant not provided [RCV001516328] Chr2:222624260 [GRCh38]
Chr2:223488979 [GRCh37]
Chr2:2q36.1		 benign
NM_005687.5(FARSB):c.962+11A>G single nucleotide variant not provided [RCV001519111] Chr2:222624703 [GRCh38]
Chr2:223489422 [GRCh37]
Chr2:2q36.1		 benign
NM_005687.5(FARSB):c.277G>C (p.Ala93Pro) single nucleotide variant FARSB-related disorder [RCV003948515]|not provided [RCV001514661] Chr2:222640924 [GRCh38]
Chr2:223505643 [GRCh37]
Chr2:2q36.1		 benign|likely benign
NM_005687.5(FARSB):c.1753G>A (p.Val585Ile) single nucleotide variant FARSB-related disorder [RCV003980482]|not provided [RCV001511299] Chr2:222571888 [GRCh38]
Chr2:223436607 [GRCh37]
Chr2:2q36.1		 benign
NM_005687.5(FARSB):c.1171-4T>C single nucleotide variant FARSB-related disorder [RCV003956157]|not provided [RCV001514660] Chr2:222623734 [GRCh38]
Chr2:223488453 [GRCh37]
Chr2:2q36.1		 benign
NM_005687.5(FARSB):c.63C>T (p.Asp21=) single nucleotide variant FARSB-related disorder [RCV003956158]|not provided [RCV001514662] Chr2:222648791 [GRCh38]
Chr2:223513510 [GRCh37]
Chr2:2q36.1		 benign|likely benign
NM_005687.5(FARSB):c.716-3C>A single nucleotide variant not provided [RCV003108474] Chr2:222631677 [GRCh38]
Chr2:223496396 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1720C>T (p.Leu574=) single nucleotide variant not provided [RCV003108718] Chr2:222571921 [GRCh38]
Chr2:223436640 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.1118G>C (p.Gly373Ala) single nucleotide variant not provided [RCV001761184] Chr2:222624324 [GRCh38]
Chr2:223489043 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1028A>T (p.Asp343Val) single nucleotide variant Inborn genetic diseases [RCV003264340]|not provided [RCV001963807] Chr2:222624414 [GRCh38]
Chr2:223489133 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.448A>C (p.Ile150Leu) single nucleotide variant not provided [RCV001758114] Chr2:222639587 [GRCh38]
Chr2:223504306 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.122A>G (p.Glu41Gly) single nucleotide variant not provided [RCV001758115] Chr2:222642998 [GRCh38]
Chr2:223507717 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.467T>G (p.Leu156Arg) single nucleotide variant not provided [RCV001814920] Chr2:222634530 [GRCh38]
Chr2:223499249 [GRCh37]
Chr2:2q36.1		 uncertain significance
GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074) copy number loss not specified [RCV002053287] Chr2:223378640..232061074 [GRCh37]
Chr2:2q36.1-37.1		 pathogenic
NM_005687.5(FARSB):c.317A>G (p.Gln106Arg) single nucleotide variant Inborn genetic diseases [RCV002550397]|not provided [RCV001947318] Chr2:222640884 [GRCh38]
Chr2:223505603 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.716-3C>T single nucleotide variant not provided [RCV001926989] Chr2:222631677 [GRCh38]
Chr2:223496396 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.923T>C (p.Met308Thr) single nucleotide variant not provided [RCV002024107] Chr2:222624753 [GRCh38]
Chr2:223489472 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.718G>C (p.Asp240His) single nucleotide variant not provided [RCV002045774] Chr2:222631672 [GRCh38]
Chr2:223496391 [GRCh37]
Chr2:2q36.1		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:219606537-239217703) copy number loss not specified [RCV002053285] Chr2:219606537..239217703 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q36.1(chr2:222828685-224451613) copy number loss not specified [RCV002053286] Chr2:222828685..224451613 [GRCh37]
Chr2:2q36.1		 pathogenic
NM_005687.5(FARSB):c.106G>C (p.Asp36His) single nucleotide variant not provided [RCV001992623] Chr2:222648748 [GRCh38]
Chr2:223513467 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.380G>A (p.Arg127His) single nucleotide variant not provided [RCV001922593] Chr2:222639655 [GRCh38]
Chr2:223504374 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.25G>T (p.Asp9Tyr) single nucleotide variant not provided [RCV001974650] Chr2:222656049 [GRCh38]
Chr2:223520768 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.860C>G (p.Ala287Gly) single nucleotide variant not provided [RCV002016947] Chr2:222628877 [GRCh38]
Chr2:223493596 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1069G>A (p.Asp357Asn) single nucleotide variant not provided [RCV001870379] Chr2:222624373 [GRCh38]
Chr2:223489092 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1438A>G (p.Ile480Val) single nucleotide variant not provided [RCV001995818] Chr2:222613835 [GRCh38]
Chr2:223478554 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.501G>T (p.Leu167Phe) single nucleotide variant not provided [RCV002011745] Chr2:222634496 [GRCh38]
Chr2:223499215 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.656T>C (p.Leu219Pro) single nucleotide variant FARSB-related disorder [RCV003434334]|Inborn genetic diseases [RCV002545880]|not provided [RCV001904286] Chr2:222633258 [GRCh38]
Chr2:223497977 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.507C>T (p.Gly169=) single nucleotide variant not provided [RCV002073626] Chr2:222634490 [GRCh38]
Chr2:223499209 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.1345-19T>G single nucleotide variant not provided [RCV002146354] Chr2:222613947 [GRCh38]
Chr2:223478666 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.1641A>C (p.Arg547=) single nucleotide variant FARSB-related disorder [RCV003923636]|not provided [RCV002129765] Chr2:222572000 [GRCh38]
Chr2:223436719 [GRCh37]
Chr2:2q36.1		 benign|likely benign
NM_005687.5(FARSB):c.49C>T (p.Arg17Cys) single nucleotide variant FARSB-related disorder [RCV003970977]|Inborn genetic diseases [RCV003053386]|not provided [RCV002148219] Chr2:222656025 [GRCh38]
Chr2:223520744 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.1618+17G>A single nucleotide variant Rajab interstitial lung disease with brain calcifications 1 [RCV002494045]|not provided [RCV002167450] Chr2:222599911 [GRCh38]
Chr2:223464630 [GRCh37]
Chr2:2q36.1		 benign|likely benign
NM_005687.5(FARSB):c.456-18C>T single nucleotide variant not provided [RCV002149928] Chr2:222634559 [GRCh38]
Chr2:223499278 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.962+20C>T single nucleotide variant not provided [RCV002114829] Chr2:222624694 [GRCh38]
Chr2:223489413 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.909T>C (p.Ala303=) single nucleotide variant FARSB-related disorder [RCV003913722]|not provided [RCV002116178] Chr2:222624767 [GRCh38]
Chr2:223489486 [GRCh37]
Chr2:2q36.1		 benign
NM_005687.5(FARSB):c.1619-9C>G single nucleotide variant FARSB-related disorder [RCV003970866]|not provided [RCV002096504] Chr2:222572031 [GRCh38]
Chr2:223436750 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.1146G>A (p.Pro382=) single nucleotide variant not provided [RCV002117379] Chr2:222624296 [GRCh38]
Chr2:223489015 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.456G>A (p.Arg152=) single nucleotide variant not provided [RCV002077909] Chr2:222634541 [GRCh38]
Chr2:223499260 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.849-16T>C single nucleotide variant not provided [RCV002114654] Chr2:222628904 [GRCh38]
Chr2:223493623 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.1201C>A (p.Arg401=) single nucleotide variant not provided [RCV002132401] Chr2:222623700 [GRCh38]
Chr2:223488419 [GRCh37]
Chr2:2q36.1		 benign
NM_005687.5(FARSB):c.574T>C (p.Tyr192His) single nucleotide variant Inborn genetic diseases [RCV003093829]|not provided [RCV002196494] Chr2:222634423 [GRCh38]
Chr2:223499142 [GRCh37]
Chr2:2q36.1		 likely benign|uncertain significance
NM_005687.5(FARSB):c.978T>C (p.Asn326=) single nucleotide variant FARSB-related disorder [RCV003903587]|not provided [RCV002193145] Chr2:222624464 [GRCh38]
Chr2:223489183 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.901-15C>T single nucleotide variant not provided [RCV002131722] Chr2:222624790 [GRCh38]
Chr2:223489509 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.1701C>T (p.Asp567=) single nucleotide variant FARSB-related disorder [RCV003978617]|not provided [RCV002095066] Chr2:222571940 [GRCh38]
Chr2:223436659 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.901-18A>C single nucleotide variant not provided [RCV002150869] Chr2:222624793 [GRCh38]
Chr2:223489512 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.428A>G (p.Gln143Arg) single nucleotide variant not provided [RCV002137677] Chr2:222639607 [GRCh38]
Chr2:223504326 [GRCh37]
Chr2:2q36.1		 benign
GRCh37/hg19 2q36.1-36.2(chr2:222902251-226084516) copy number loss Waardenburg syndrome type 1 [RCV002280673] Chr2:222902251..226084516 [GRCh37]
Chr2:2q36.1-36.2		 pathogenic
NM_005687.5(FARSB):c.1278A>G (p.Lys426=) single nucleotide variant not provided [RCV002099812] Chr2:222619711 [GRCh38]
Chr2:223484430 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.786+19C>G single nucleotide variant not provided [RCV002142827] Chr2:222631585 [GRCh38]
Chr2:223496304 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.1408del (p.Leu470fs) deletion Rajab interstitial lung disease with brain calcifications 1 [RCV002249980] Chr2:222613865 [GRCh38]
Chr2:223478584 [GRCh37]
Chr2:2q36.1		 pathogenic
NM_005687.5(FARSB):c.460A>G (p.Arg154Gly) single nucleotide variant Rajab interstitial lung disease with brain calcifications 1 [RCV002249981] Chr2:222634537 [GRCh38]
Chr2:223499256 [GRCh37]
Chr2:2q36.1		 pathogenic
NM_005687.5(FARSB):c.1504T>C (p.Tyr502His) single nucleotide variant not provided [RCV002303622] Chr2:222600042 [GRCh38]
Chr2:223464761 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1693C>T (p.His565Tyr) single nucleotide variant not provided [RCV002296388] Chr2:222571948 [GRCh38]
Chr2:223436667 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1750A>G (p.Asn584Asp) single nucleotide variant not provided [RCV002295830] Chr2:222571891 [GRCh38]
Chr2:223436610 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1396C>T (p.Arg466Cys) single nucleotide variant not provided [RCV002616728] Chr2:222613877 [GRCh38]
Chr2:223478596 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.3G>T (p.Met1Ile) single nucleotide variant not provided [RCV002837600] Chr2:222656071 [GRCh38]
Chr2:223520790 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.963-12T>C single nucleotide variant not provided [RCV002862419] Chr2:222624491 [GRCh38]
Chr2:223489210 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.508C>T (p.Pro170Ser) single nucleotide variant not provided [RCV002908890] Chr2:222634489 [GRCh38]
Chr2:223499208 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.614A>G (p.Asn205Ser) single nucleotide variant not provided [RCV002615783] Chr2:222633300 [GRCh38]
Chr2:223498019 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.280C>T (p.Pro94Ser) single nucleotide variant Inborn genetic diseases [RCV004070570]|not provided [RCV002616621] Chr2:222640921 [GRCh38]
Chr2:223505640 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1757G>T (p.Gly586Val) single nucleotide variant not provided [RCV002776494] Chr2:222571884 [GRCh38]
Chr2:223436603 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.379C>T (p.Arg127Cys) single nucleotide variant Inborn genetic diseases [RCV003011220]|not provided [RCV002994787] Chr2:222639656 [GRCh38]
Chr2:223504375 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1257C>G (p.Ser419=) single nucleotide variant not provided [RCV002847449] Chr2:222619732 [GRCh38]
Chr2:223484451 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.934G>A (p.Asp312Asn) single nucleotide variant Inborn genetic diseases [RCV002707776] Chr2:222624742 [GRCh38]
Chr2:223489461 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1639C>T (p.Arg547Ter) single nucleotide variant not provided [RCV002800451] Chr2:222572002 [GRCh38]
Chr2:223436721 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.78A>T (p.Glu26Asp) single nucleotide variant not provided [RCV002909213] Chr2:222648776 [GRCh38]
Chr2:223513495 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1462+16C>T single nucleotide variant not provided [RCV003055632] Chr2:222613795 [GRCh38]
Chr2:223478514 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.265G>C (p.Glu89Gln) single nucleotide variant Inborn genetic diseases [RCV002821099] Chr2:222642855 [GRCh38]
Chr2:223507574 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.671A>C (p.Tyr224Ser) single nucleotide variant not provided [RCV003036214] Chr2:222633243 [GRCh38]
Chr2:223497962 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1483A>C (p.Arg495=) single nucleotide variant not provided [RCV002867183] Chr2:222600063 [GRCh38]
Chr2:223464782 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.1668A>G (p.Gln556=) single nucleotide variant not provided [RCV002638310] Chr2:222571973 [GRCh38]
Chr2:223436692 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.850G>A (p.Val284Ile) single nucleotide variant Inborn genetic diseases [RCV002845845] Chr2:222628887 [GRCh38]
Chr2:223493606 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1168C>G (p.Gln390Glu) single nucleotide variant Inborn genetic diseases [RCV002739923] Chr2:222624274 [GRCh38]
Chr2:223488993 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1702G>A (p.Val568Ile) single nucleotide variant not provided [RCV002622260] Chr2:222571939 [GRCh38]
Chr2:223436658 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.220C>T (p.Leu74Phe) single nucleotide variant not provided [RCV002658846] Chr2:222642900 [GRCh38]
Chr2:223507619 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.688G>A (p.Val230Ile) single nucleotide variant Inborn genetic diseases [RCV002999110]|not provided [RCV002999109] Chr2:222633226 [GRCh38]
Chr2:223497945 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.67G>A (p.Glu23Lys) single nucleotide variant not provided [RCV002622538] Chr2:222648787 [GRCh38]
Chr2:223513506 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.81A>G (p.Leu27=) single nucleotide variant not provided [RCV002976146] Chr2:222648773 [GRCh38]
Chr2:223513492 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.1218C>T (p.Ala406=) single nucleotide variant not provided [RCV002621631] Chr2:222623683 [GRCh38]
Chr2:223488402 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.404G>T (p.Arg135Leu) single nucleotide variant Inborn genetic diseases [RCV003167649]|not provided [RCV002706079] Chr2:222639631 [GRCh38]
Chr2:223504350 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.848C>T (p.Thr283Met) single nucleotide variant not provided [RCV003079736] Chr2:222630113 [GRCh38]
Chr2:223494832 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.449T>C (p.Ile150Thr) single nucleotide variant not provided [RCV002571057] Chr2:222639586 [GRCh38]
Chr2:223504305 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.475A>G (p.Ile159Val) single nucleotide variant not provided [RCV002643017] Chr2:222634522 [GRCh38]
Chr2:223499241 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.69A>G (p.Glu23=) single nucleotide variant not provided [RCV002917802] Chr2:222648785 [GRCh38]
Chr2:223513504 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.14G>T (p.Ser5Ile) single nucleotide variant not provided [RCV003055891] Chr2:222656060 [GRCh38]
Chr2:223520779 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1252-16T>C single nucleotide variant not provided [RCV002828916] Chr2:222619753 [GRCh38]
Chr2:223484472 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.8C>G (p.Thr3Ser) single nucleotide variant not provided [RCV002643386] Chr2:222656066 [GRCh38]
Chr2:223520785 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.38A>G (p.Gln13Arg) single nucleotide variant not provided [RCV002929130] Chr2:222656036 [GRCh38]
Chr2:223520755 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.199G>A (p.Val67Ile) single nucleotide variant Inborn genetic diseases [RCV002664409] Chr2:222642921 [GRCh38]
Chr2:223507640 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1252-12T>G single nucleotide variant not provided [RCV002626656] Chr2:222619749 [GRCh38]
Chr2:223484468 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.1529T>G (p.Ile510Ser) single nucleotide variant not provided [RCV002663507] Chr2:222600017 [GRCh38]
Chr2:223464736 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1651A>G (p.Ile551Val) single nucleotide variant not provided [RCV002958152] Chr2:222571990 [GRCh38]
Chr2:223436709 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.35T>C (p.Phe12Ser) single nucleotide variant Inborn genetic diseases [RCV002803035] Chr2:222656039 [GRCh38]
Chr2:223520758 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.499_500del (p.Leu167fs) deletion not provided [RCV002644083] Chr2:222634497..222634498 [GRCh38]
Chr2:223499216..223499217 [GRCh37]
Chr2:2q36.1		 pathogenic
NM_005687.5(FARSB):c.606+17A>G single nucleotide variant not provided [RCV002594813] Chr2:222634374 [GRCh38]
Chr2:223499093 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.730A>G (p.Ile244Val) single nucleotide variant Inborn genetic diseases [RCV004617097]|not provided [RCV002801120] Chr2:222631660 [GRCh38]
Chr2:223496379 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1580G>C (p.Gly527Ala) single nucleotide variant not provided [RCV002941878] Chr2:222599966 [GRCh38]
Chr2:223464685 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.817A>G (p.Met273Val) single nucleotide variant not provided [RCV002721036] Chr2:222630144 [GRCh38]
Chr2:223494863 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.369A>G (p.Ala123=) single nucleotide variant not provided [RCV002599303] Chr2:222639666 [GRCh38]
Chr2:223504385 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.1674C>T (p.Val558=) single nucleotide variant not provided [RCV002650114] Chr2:222571967 [GRCh38]
Chr2:223436686 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.79C>T (p.Leu27=) single nucleotide variant not provided [RCV003047551] Chr2:222648775 [GRCh38]
Chr2:223513494 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.986A>G (p.Lys329Arg) single nucleotide variant Inborn genetic diseases [RCV002674614]|not provided [RCV003561161] Chr2:222624456 [GRCh38]
Chr2:223489175 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.893C>G (p.Thr298Ser) single nucleotide variant not provided [RCV002811425] Chr2:222628844 [GRCh38]
Chr2:223493563 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1171-4dup duplication not provided [RCV002599483] Chr2:222623733..222623734 [GRCh38]
Chr2:223488452..223488453 [GRCh37]
Chr2:2q36.1		 benign
NM_005687.5(FARSB):c.564G>T (p.Lys188Asn) single nucleotide variant not provided [RCV002746561] Chr2:222634433 [GRCh38]
Chr2:223499152 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.733A>G (p.Thr245Ala) single nucleotide variant not provided [RCV002600734] Chr2:222631657 [GRCh38]
Chr2:223496376 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1443A>G (p.Val481=) single nucleotide variant not provided [RCV002577024] Chr2:222613830 [GRCh38]
Chr2:223478549 [GRCh37]
Chr2:2q36.1		 benign
NM_005687.5(FARSB):c.1743A>G (p.Leu581=) single nucleotide variant not provided [RCV002653871] Chr2:222571898 [GRCh38]
Chr2:223436617 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.687C>T (p.Val229=) single nucleotide variant not provided [RCV002582993] Chr2:222633227 [GRCh38]
Chr2:223497946 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.900+11A>T single nucleotide variant not provided [RCV002582994] Chr2:222628826 [GRCh38]
Chr2:223493545 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.1431C>A (p.Ile477=) single nucleotide variant not provided [RCV002604428] Chr2:222613842 [GRCh38]
Chr2:223478561 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.86T>A (p.Phe29Tyr) single nucleotide variant Inborn genetic diseases [RCV002606707]|not provided [RCV002606708] Chr2:222648768 [GRCh38]
Chr2:223513487 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.58+19C>T single nucleotide variant not provided [RCV002583721] Chr2:222655997 [GRCh38]
Chr2:223520716 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.1635C>T (p.Pro545=) single nucleotide variant not provided [RCV002612147] Chr2:222572006 [GRCh38]
Chr2:223436725 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.161C>T (p.Ala54Val) single nucleotide variant not provided [RCV002603988] Chr2:222642959 [GRCh38]
Chr2:223507678 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.4C>T (p.Pro2Ser) single nucleotide variant Inborn genetic diseases [RCV003190347] Chr2:222656070 [GRCh38]
Chr2:223520789 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1574C>T (p.Pro525Leu) single nucleotide variant Inborn genetic diseases [RCV003210820] Chr2:222599972 [GRCh38]
Chr2:223464691 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.5C>T (p.Pro2Leu) single nucleotide variant Inborn genetic diseases [RCV003191046] Chr2:222656069 [GRCh38]
Chr2:223520788 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1487A>G (p.His496Arg) single nucleotide variant Inborn genetic diseases [RCV003195162] Chr2:222600059 [GRCh38]
Chr2:223464778 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1664G>T (p.Gly555Val) single nucleotide variant not provided [RCV003327071] Chr2:222571977 [GRCh38]
Chr2:223436696 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1327A>G (p.Lys443Glu) single nucleotide variant not provided [RCV003327072] Chr2:222619662 [GRCh38]
Chr2:223484381 [GRCh37]
Chr2:2q36.1		 uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NM_005687.5(FARSB):c.1672G>A (p.Val558Ile) single nucleotide variant Inborn genetic diseases [RCV003342412] Chr2:222571969 [GRCh38]
Chr2:223436688 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.1458T>A (p.Asn486Lys) single nucleotide variant Inborn genetic diseases [RCV003370713] Chr2:222613815 [GRCh38]
Chr2:223478534 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.33C>G (p.Leu11=) single nucleotide variant not provided [RCV003440197] Chr2:222656041 [GRCh38]
Chr2:223520760 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.-3A>G single nucleotide variant FARSB-related disorder [RCV003980915]|not provided [RCV003440198] Chr2:222656076 [GRCh38]
Chr2:223520795 [GRCh37]
Chr2:2q36.1		 likely benign
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 copy number gain not provided [RCV003484087] Chr2:218376403..242783384 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_005687.5(FARSB):c.510A>G (p.Pro170=) single nucleotide variant not provided [RCV003440196] Chr2:222634487 [GRCh38]
Chr2:223499206 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.465A>G (p.Ala155=) single nucleotide variant not provided [RCV003429560] Chr2:222634532 [GRCh38]
Chr2:223499251 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.1311C>T (p.Val437=) single nucleotide variant not provided [RCV003829593] Chr2:222619678 [GRCh38]
Chr2:223484397 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.455+7G>A single nucleotide variant not provided [RCV003688085] Chr2:222639573 [GRCh38]
Chr2:223504292 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.294G>A (p.Arg98=) single nucleotide variant not provided [RCV003673793] Chr2:222640907 [GRCh38]
Chr2:223505626 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.58+2T>C single nucleotide variant not provided [RCV003673258] Chr2:222656014 [GRCh38]
Chr2:223520733 [GRCh37]
Chr2:2q36.1		 likely pathogenic
NM_005687.5(FARSB):c.786+20A>G single nucleotide variant not provided [RCV003811267] Chr2:222631584 [GRCh38]
Chr2:223496303 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.15C>T (p.Ser5=) single nucleotide variant not provided [RCV003725462] Chr2:222656059 [GRCh38]
Chr2:223520778 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.1125C>T (p.Asn375=) single nucleotide variant not provided [RCV003732871] Chr2:222624317 [GRCh38]
Chr2:223489036 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.787-12T>G single nucleotide variant not provided [RCV003553422] Chr2:222630186 [GRCh38]
Chr2:223494905 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.1374C>T (p.Leu458=) single nucleotide variant not provided [RCV003737291] Chr2:222613899 [GRCh38]
Chr2:223478618 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.58+20G>C single nucleotide variant not provided [RCV003869577] Chr2:222655996 [GRCh38]
Chr2:223520715 [GRCh37]
Chr2:2q36.1		 likely benign
GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3 copy number gain See cases [RCV004442836] Chr2:216815496..242782258 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_005687.5(FARSB):c.-5A>C single nucleotide variant FARSB-related disorder [RCV003976692] Chr2:222656078 [GRCh38]
Chr2:223520797 [GRCh37]
Chr2:2q36.1		 benign
NM_005687.5(FARSB):c.6G>A (p.Pro2=) single nucleotide variant FARSB-related disorder [RCV003899312] Chr2:222656068 [GRCh38]
Chr2:223520787 [GRCh37]
Chr2:2q36.1		 likely benign
NM_005687.5(FARSB):c.*4T>C single nucleotide variant FARSB-related disorder [RCV003976725] Chr2:222571867 [GRCh38]
Chr2:223436586 [GRCh37]
Chr2:2q36.1		 benign
NM_005687.5(FARSB):c.1459A>G (p.Thr487Ala) single nucleotide variant Inborn genetic diseases [RCV004383836] Chr2:222613814 [GRCh38]
Chr2:223478533 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.353G>A (p.Arg118His) single nucleotide variant Inborn genetic diseases [RCV004383840] Chr2:222639682 [GRCh38]
Chr2:223504401 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1576C>G (p.Pro526Ala) single nucleotide variant Inborn genetic diseases [RCV004383837] Chr2:222599970 [GRCh38]
Chr2:223464689 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.193A>T (p.Ile65Phe) single nucleotide variant Inborn genetic diseases [RCV004383839] Chr2:222642927 [GRCh38]
Chr2:223507646 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.473C>T (p.Ala158Val) single nucleotide variant Inborn genetic diseases [RCV004383841] Chr2:222634524 [GRCh38]
Chr2:223499243 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.629A>G (p.Tyr210Cys) single nucleotide variant Inborn genetic diseases [RCV004383842] Chr2:222633285 [GRCh38]
Chr2:223498004 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.637A>G (p.Ile213Val) single nucleotide variant Inborn genetic diseases [RCV004383843] Chr2:222633277 [GRCh38]
Chr2:223497996 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1726A>C (p.Met576Leu) single nucleotide variant Inborn genetic diseases [RCV004383838] Chr2:222571915 [GRCh38]
Chr2:223436634 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1384A>G (p.Ile462Val) single nucleotide variant Inborn genetic diseases [RCV004383835] Chr2:222613889 [GRCh38]
Chr2:223478608 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.148G>C (p.Gly50Arg) single nucleotide variant Inborn genetic diseases [RCV004620841] Chr2:222642972 [GRCh38]
Chr2:223507691 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1464T>G (p.Asp488Glu) single nucleotide variant Inborn genetic diseases [RCV004620842] Chr2:222600082 [GRCh38]
Chr2:223464801 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1049A>C (p.Glu350Ala) single nucleotide variant Inborn genetic diseases [RCV004620840] Chr2:222624393 [GRCh38]
Chr2:223489112 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1397G>T (p.Arg466Leu) single nucleotide variant Inborn genetic diseases [RCV004620843] Chr2:222613876 [GRCh38]
Chr2:223478595 [GRCh37]
Chr2:2q36.1		 uncertain significance
NM_005687.5(FARSB):c.1127A>G (p.Asn376Ser) single nucleotide variant Inborn genetic diseases [RCV004620844] Chr2:222624315 [GRCh38]
Chr2:223489034 [GRCh37]
Chr2:2q36.1		 uncertain significance
NC_000002.11:g.(?_223066643)_(223520792_?)dup duplication not provided [RCV004583813] Chr2:223066643..223520792 [GRCh37]
Chr2:2q36.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:848
Count of miRNA genes:476
Interacting mature miRNAs:513
Transcripts:ENST00000281828, ENST00000536361
Prediction methods:Microtar, Miranda, Rnahybrid
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2293458PRSTS291_HProstate tumor susceptibility QTL 291 (human)0.012Prostate tumor susceptibility2200715236226715236Human
407004752GWAS653728_Hplatelet-derived growth factor BB measurement QTL GWAS653728 (human)0.000003platelet-derived growth factor BB measurement2222642575222642576Human
1643053BW117_HBody Weight QTL 117 (human)2.40.00044Body weight2200715236226715236Human
407274803GWAS923779_Hcognitive decline measurement QTL GWAS923779 (human)0.0000006cognitive behavior trait (VT:0010450)2222619881222619882Human
2289332BW376_HBody weight QTL 376 (human)1.870.00168Body fat amountabdominal2213765566239765566Human
407046763GWAS695739_Halcohol consumption measurement QTL GWAS695739 (human)3e-11alcohol consumption measurementethanol drink intake rate (CMO:0001407)2222611457222611458Human
407212367GWAS861343_Hskin aging measurement QTL GWAS861343 (human)2e-11skin aging measurement2222606549222606550Human
406964300GWAS613276_Hfacial morphology measurement QTL GWAS613276 (human)3e-11facial morphology measurement2222572141222572142Human
406974015GWAS622991_Hschizophrenia, HSV1 seropositivity QTL GWAS622991 (human)0.000002schizophrenia, HSV1 seropositivity2222652986222652987Human
1643254BW125_HBody Weight QTL 125 (human)1.450.005Body weightbody mass index2200715236226715236Human

Markers in Region
RH47422  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372223,510,455 - 223,510,585UniSTSGRCh37
Build 362223,218,699 - 223,218,829RGDNCBI36
Celera2217,278,362 - 217,278,492RGD
Cytogenetic Map2q36.1UniSTS
HuRef2215,363,773 - 215,363,903UniSTS
GeneMap99-GB4 RH Map2693.9UniSTS
G62071  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372223,436,509 - 223,436,649UniSTSGRCh37
Build 362223,144,753 - 223,144,893RGDNCBI36
Celera2217,204,703 - 217,204,843RGD
Cytogenetic Map2q36.1UniSTS
HuRef2215,290,251 - 215,290,391UniSTS
G20688  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372223,467,360 - 223,467,467UniSTSGRCh37
Build 362223,175,604 - 223,175,711RGDNCBI36
Celera2217,235,555 - 217,235,662RGD
Cytogenetic Map2q36.1UniSTS
HuRef2215,320,957 - 215,321,064UniSTS
A006B46  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372223,467,360 - 223,467,467UniSTSGRCh37
GRCh37485,934,187 - 85,935,707UniSTSGRCh37
Build 362223,175,604 - 223,175,711RGDNCBI36
Celera483,224,576 - 83,226,096UniSTS
Celera2217,235,555 - 217,235,662RGD
Cytogenetic Map2q36.1UniSTS
HuRef481,676,395 - 81,677,915UniSTS
HuRef2215,320,957 - 215,321,064UniSTS
GeneMap99-GB4 RH Map2691.46UniSTS
NCBI RH Map21795.6UniSTS
A002O40  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372223,436,521 - 223,436,624UniSTSGRCh37
Build 362223,144,765 - 223,144,868RGDNCBI36
Celera2217,204,715 - 217,204,818RGD
Cytogenetic Map2q36.1UniSTS
HuRef2215,290,263 - 215,290,366UniSTS
GeneMap99-GB4 RH Map2692.18UniSTS
HSC2BG052  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372223,436,511 - 223,436,716UniSTSGRCh37
Build 362223,144,755 - 223,144,960RGDNCBI36
Celera2217,204,705 - 217,204,910RGD
Cytogenetic Map2q36.1UniSTS
HuRef2215,290,253 - 215,290,458UniSTS
GeneMap99-GB4 RH Map2691.46UniSTS
Whitehead-RH Map21022.6UniSTS
RH103332  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map4q32.3UniSTS
GeneMap99-GB4 RH Map4657.9UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2245 4942 1723 2345 4 622 1948 464 2268 7281 6454 52 3708 847 1731 1612 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_005687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_130154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC097461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF042346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF161521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG721840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D84430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000281828   ⟹   ENSP00000281828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2222,566,899 - 222,656,092 (-)Ensembl
Ensembl Acc Id: ENST00000568928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2222,567,022 - 222,569,546 (-)Ensembl
RefSeq Acc Id: NM_005687   ⟹   NP_005678
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382222,566,899 - 222,656,092 (-)NCBI
GRCh372223,436,162 - 223,520,827 (-)ENTREZGENE
Build 362223,144,406 - 223,229,071 (-)NCBI Archive
HuRef2215,289,904 - 215,374,144 (-)ENTREZGENE
CHM1_12223,442,666 - 223,527,456 (-)NCBI
T2T-CHM13v2.02223,052,236 - 223,141,156 (-)NCBI
Sequence:
RefSeq Acc Id: NR_130154
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382222,566,899 - 222,656,092 (-)NCBI
CHM1_12223,442,666 - 223,527,456 (-)NCBI
T2T-CHM13v2.02223,052,236 - 223,141,156 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006712169   ⟹   XP_006712232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382222,566,899 - 222,656,092 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510466   ⟹   XP_011508768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382222,566,899 - 222,656,092 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054340082   ⟹   XP_054196057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02223,052,236 - 223,141,156 (-)NCBI
RefSeq Acc Id: XM_054340083   ⟹   XP_054196058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02223,052,236 - 223,141,156 (-)NCBI
RefSeq Acc Id: NP_005678   ⟸   NM_005687
- UniProtKB: Q57ZJ5 (UniProtKB/Swiss-Prot),   Q4ZFX1 (UniProtKB/Swiss-Prot),   O95708 (UniProtKB/Swiss-Prot),   B4DFM0 (UniProtKB/Swiss-Prot),   Q9NZZ6 (UniProtKB/Swiss-Prot),   Q9NSD9 (UniProtKB/Swiss-Prot),   A8K666 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006712232   ⟸   XM_006712169
- Peptide Label: isoform X1
- UniProtKB: B7ZB32 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011508768   ⟸   XM_011510466
- Peptide Label: isoform X1
- UniProtKB: B7ZB32 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000281828   ⟸   ENST00000281828
RefSeq Acc Id: XP_054196058   ⟸   XM_054340083
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054196057   ⟸   XM_054340082
- Peptide Label: isoform X1
Protein Domains
B5

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NSD9-F1-model_v2 AlphaFold Q9NSD9 1-589 view protein structure

Promoters
RGD ID:6862950
Promoter ID:EPDNEW_H4640
Type:initiation region
Name:FARSB_1
Description:phenylalanyl-tRNA synthetase beta 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
GRCh382222,656,092 - 222,656,152EPDNEW
RGD ID:6797477
Promoter ID:HG_KWN:37452
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:OTTHUMT00000256855,   UC002VNF.1,   UC002VNG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362223,228,936 - 223,229,487 (-)MPROMDB
RGD ID:6851346
Promoter ID:EP73471
Type:initiation region
Name:HS_FRSB
Description:Phenylalanyl-tRNA synthetase beta-subunit.
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 362223,229,055 - 223,229,115EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17800 AgrOrtholog
COSMIC FARSB COSMIC
Ensembl Genes ENSG00000116120 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000281828 ENTREZGENE
  ENST00000281828.8 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.56.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.50.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000116120 GTEx
HGNC ID HGNC:17800 ENTREZGENE
Human Proteome Map FARSB Human Proteome Map
InterPro aa-tRNA-synth_II/BPL/LPL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  B3/B4_tRNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA-bd_dom_put_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phe-tRNA-ligase_IIc_bsu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phe-tRNA-synth_IIc_bsu_arc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phe-tRNA_synthase_B3/B4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PheRS_beta_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PhetRS_B1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  tRNA_synthase_B5-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10056 UniProtKB/Swiss-Prot
NCBI Gene 10056 ENTREZGENE
OMIM 609690 OMIM
PANTHER PHENYLALANINE--TRNA LIGASE BETA SUBUNIT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10947 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam B3_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF03484 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PhetRS_B1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  tRNA_synthFbeta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162388068 PharmGKB
PROSITE PS51483 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART B3_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00874 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PheT/TilS domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF46955 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55681 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K666 ENTREZGENE, UniProtKB/TrEMBL
  B4DFM0 ENTREZGENE
  B7ZB32 ENTREZGENE, UniProtKB/TrEMBL
  O95708 ENTREZGENE
  Q4ZFX1 ENTREZGENE
  Q57ZJ5 ENTREZGENE
  Q9BR63_HUMAN UniProtKB/TrEMBL
  Q9NSD9 ENTREZGENE
  Q9NZZ6 ENTREZGENE
  SYFB_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4DFM0 UniProtKB/Swiss-Prot
  O95708 UniProtKB/Swiss-Prot
  Q4ZFX1 UniProtKB/Swiss-Prot
  Q57ZJ5 UniProtKB/Swiss-Prot
  Q9NZZ6 UniProtKB/Swiss-Prot


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