CARS1 (cysteinyl-tRNA synthetase 1) - Rat Genome Database

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Gene: CARS1 (cysteinyl-tRNA synthetase 1) Homo sapiens
Analyze
Symbol: CARS1
Name: cysteinyl-tRNA synthetase 1
RGD ID: 1321833
HGNC Page HGNC:1493
Description: Enables several functions, including ATP binding activity; cysteine-tRNA ligase activity; and protein homodimerization activity. Involved in cysteinyl-tRNA aminoacylation. Located in cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CARS; CYSRS; cysteine translase; cysteine tRNA ligase 1, cytoplasmic; cysteine--tRNA ligase; cysteine--tRNA ligase, cytoplasmic; cysteine-tRNA ligase; cysteinyl-tRNA synthetase; cysteinyl-tRNA synthetase, cytoplasmic; MCDDBH; MDBH; MGC:11246
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: CARS1P1   CARS1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38113,000,929 - 3,057,423 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl113,000,922 - 3,057,613 (-)EnsemblGRCh38hg38GRCh38
GRCh37113,022,159 - 3,078,653 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36112,978,735 - 3,035,247 (-)NCBINCBI36Build 36hg18NCBI36
Build 34112,978,735 - 3,035,243NCBI
Celera113,056,003 - 3,112,501 (-)NCBICelera
Cytogenetic Map11p15.4NCBI
HuRef112,810,729 - 2,867,223 (-)NCBIHuRef
CHM1_1113,021,034 - 3,077,716 (-)NCBICHM1_1
T2T-CHM13v2.0113,090,162 - 3,146,645 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-hydroxypropanoic acid  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-phenylbutyric acid  (EXP)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
acrylamide  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
AM-251  (EXP)
antimycin A  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
buta-1,3-diene  (ISO)
cadmium dichloride  (EXP)
caffeine  (EXP)
cannabidiol  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chloroacetaldehyde  (EXP)
chlorpyrifos  (ISO)
chromium(6+)  (ISO)
cidofovir anhydrous  (EXP)
cisplatin  (EXP)
clodronic acid  (EXP)
clofibrate  (ISO)
clozapine  (EXP)
copper(II) sulfate  (EXP)
corticosterone  (ISO)
cyclophosphamide  (EXP)
cyclosporin A  (EXP,ISO)
cyproconazole  (ISO)
decabromodiphenyl ether  (ISO)
deguelin  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
dioxygen  (EXP,ISO)
dorsomorphin  (EXP)
entinostat  (EXP)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
fenpyroximate  (EXP)
fluoranthene  (ISO)
flutamide  (ISO)
folic acid  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
gamma-hexachlorocyclohexane  (EXP)
genistein  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
hydrogen peroxide  (EXP)
ifosfamide  (EXP)
indometacin  (EXP)
inulin  (ISO)
ivermectin  (EXP)
lamivudine  (EXP)
lead diacetate  (ISO)
lead(0)  (EXP)
mercury dibromide  (EXP)
mercury dichloride  (ISO)
metformin  (ISO)
methapyrilene  (EXP)
methimazole  (ISO)
methotrexate  (EXP)
methylmercury chloride  (EXP)
N(4)-hydroxycytidine  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
nickel dichloride  (EXP)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
piperonyl butoxide  (ISO)
potassium bromate  (EXP)
potassium chromate  (EXP)
propiconazole  (ISO)
pyrimidifen  (EXP)
rac-lactic acid  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sodium fluoride  (ISO)
Soman  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
T-2 toxin  (EXP,ISO)
tebufenpyrad  (EXP)
tetrachloromethane  (ISO)
thifluzamide  (EXP)
titanium dioxide  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
trovafloxacin  (ISO)
tungsten  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
zearalenone  (EXP)
zidovudine  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,IDA,IEA,NAS)
cytosol  (IDA,TAS)

Molecular Function

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

Human Phenotype
Abnormal pyramidal sign  (IAGP)
Abnormality of prenatal development or birth  (IAGP)
Absence of subcutaneous fat  (IAGP)
Alopecia of scalp  (IAGP)
Anemia  (IAGP)
Ankle clonus  (IAGP)
Aortic root aneurysm  (IAGP)
Aplasia/Hypoplasia of the nails  (IAGP)
Astigmatism  (IAGP)
Atrial septal defect  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral microphthalmos  (IAGP)
Bilateral sensorineural hearing impairment  (IAGP)
Bird-like facies  (IAGP)
Brisk reflexes  (IAGP)
Brittle hair  (IAGP)
Broad-based gait  (IAGP)
Bronchoconstriction  (IAGP)
Cardiomyopathy  (IAGP)
Carious teeth  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral dysmyelination  (IAGP)
Chordee  (IAGP)
Clubbing  (IAGP)
Coarse facial features  (IAGP)
Compulsive behaviors  (IAGP)
Concave nail  (IAGP)
Congenital exfoliative erythroderma  (IAGP)
Conjunctivitis  (IAGP)
Craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous photosensitivity  (IAGP)
Deeply set eye  (IAGP)
Defective DNA repair after ultraviolet radiation damage  (IAGP)
Delayed CNS myelination  (IAGP)
Delayed fine motor development  (IAGP)
Delayed gross motor development  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Delayed speech and language development  (IAGP)
Depression  (IAGP)
Developmental cataract  (IAGP)
Diffuse cerebellar atrophy  (IAGP)
Dry skin  (IAGP)
Dysarthria  (IAGP)
Dysdiadochokinesis  (IAGP)
Dysphonia  (IAGP)
Dystonia  (IAGP)
Dystrophic fingernails  (IAGP)
Ectropion  (IAGP)
Eczematoid dermatitis  (IAGP)
Enamel hypoplasia  (IAGP)
Epicanthus  (IAGP)
Esotropia  (IAGP)
Failure to thrive in infancy  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fine hair  (IAGP)
Flexion contracture  (IAGP)
Fragile nails  (IAGP)
Gait ataxia  (IAGP)
Generalized hyperreflexia  (IAGP)
Generalized hypotonia  (IAGP)
Generalized limb muscle atrophy  (IAGP)
Generalized-onset seizure  (IAGP)
Global developmental delay  (IAGP)
Gonadal dysgenesis  (IAGP)
High forehead  (IAGP)
High, narrow palate  (IAGP)
Hypertelorism  (IAGP)
Hypertonia  (IAGP)
Hypoplasia of mandible relative to maxilla  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hyporeflexia  (IAGP)
Hypospadias  (IAGP)
Hypotelorism  (IAGP)
Hypotonia  (IAGP)
Ichthyosis  (IAGP)
Increased bone mineral density  (IAGP)
Increased mean corpuscular hemoglobin concentration  (IAGP)
Intellectual disability, mild  (IAGP)
Intention tremor  (IAGP)
Intrauterine growth retardation  (IAGP)
Irritability  (IAGP)
Joint dislocation  (IAGP)
Keratoconjunctivitis sicca  (IAGP)
Low-set nipples  (IAGP)
Macular degeneration  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Multiple joint contractures  (IAGP)
Myopia  (IAGP)
Narrow forehead  (IAGP)
Narrow nose  (IAGP)
Neutropenia  (IAGP)
Numerous pigmented freckles  (IAGP)
Nystagmus  (IAGP)
Osteopenia  (IAGP)
Panhypogammaglobulinemia  (IAGP)
Paraplegia/paraparesis  (IAGP)
Partial agenesis of the corpus callosum  (IAGP)
Pendular nystagmus  (IAGP)
Peripheral neuropathy  (IAGP)
Periventricular leukomalacia  (IAGP)
Pes cavus  (IAGP)
Photophobia  (IAGP)
Poor coordination  (IAGP)
Prematurely aged appearance  (IAGP)
Protruding ear  (IAGP)
Recurrent bronchopulmonary infections  (IAGP)
Recurrent infections  (IAGP)
Reduced social reciprocity  (IAGP)
Retinal degeneration  (IAGP)
Retrognathia  (IAGP)
Ridged nail  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Sleep abnormality  (IAGP)
Small for gestational age  (IAGP)
Sparse hair  (IAGP)
Sparse scalp hair  (IAGP)
Spasticity  (IAGP)
Split nail  (IAGP)
Squamous cell carcinoma  (IAGP)
Status epilepticus  (IAGP)
Strabismus  (IAGP)
Submucous cleft hard palate  (IAGP)
Talipes valgus  (IAGP)
Thoracic kyphosis  (IAGP)
Tiger tail banding  (IAGP)
Type II diabetes mellitus  (IAGP)
Umbilical hernia  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (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. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7987009   PMID:8125298   PMID:8468064   PMID:10908348   PMID:11347887   PMID:12112524   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15592455   PMID:16344560   PMID:17303165  
PMID:18029348   PMID:19041431   PMID:19252134   PMID:19394292   PMID:20201924   PMID:20306291   PMID:20460425   PMID:20834067   PMID:21832049   PMID:21873635   PMID:22863883   PMID:24068962  
PMID:25921289   PMID:26184909   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26909942   PMID:27507811   PMID:28409418   PMID:28514442   PMID:28515276   PMID:28533407   PMID:29117863  
PMID:30033366   PMID:30196744   PMID:30824121   PMID:30948266   PMID:31048545   PMID:31091453   PMID:31391242   PMID:32461342   PMID:32788342   PMID:33226137   PMID:33545068   PMID:33961781  
PMID:34299191   PMID:34373451   PMID:34472622   PMID:34591612   PMID:34857952   PMID:35256949   PMID:35271311   PMID:35509820   PMID:35831314   PMID:36168627   PMID:36215168   PMID:36300783  
PMID:36634849   PMID:36724073   PMID:37827155  


Genomics

Comparative Map Data
CARS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38113,000,929 - 3,057,423 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl113,000,922 - 3,057,613 (-)EnsemblGRCh38hg38GRCh38
GRCh37113,022,159 - 3,078,653 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36112,978,735 - 3,035,247 (-)NCBINCBI36Build 36hg18NCBI36
Build 34112,978,735 - 3,035,243NCBI
Celera113,056,003 - 3,112,501 (-)NCBICelera
Cytogenetic Map11p15.4NCBI
HuRef112,810,729 - 2,867,223 (-)NCBIHuRef
CHM1_1113,021,034 - 3,077,716 (-)NCBICHM1_1
T2T-CHM13v2.0113,090,162 - 3,146,645 (-)NCBIT2T-CHM13v2.0
Cars1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397143,110,967 - 143,153,827 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7143,110,967 - 143,153,827 (-)EnsemblGRCm39 Ensembl
GRCm387143,557,230 - 143,600,090 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7143,557,230 - 143,600,090 (-)EnsemblGRCm38mm10GRCm38
MGSCv377150,743,610 - 150,785,947 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367143,366,618 - 143,409,446 (-)NCBIMGSCv36mm8
Celera7143,313,394 - 143,355,735 (-)NCBICelera
Cytogenetic Map7F5NCBI
cM Map788.25NCBI
Cars1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81208,183,092 - 208,225,425 (-)NCBIGRCr8
mRatBN7.21198,753,689 - 198,796,016 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1198,753,691 - 198,795,941 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1207,132,333 - 207,174,514 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01214,218,968 - 214,261,305 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01206,893,125 - 206,935,462 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01216,759,367 - 216,801,652 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1216,759,366 - 216,801,656 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01223,619,546 - 223,661,823 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41203,934,812 - 203,977,042 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11204,088,233 - 204,130,495 (-)NCBI
Celera1196,322,209 - 196,364,445 (-)NCBICelera
Cytogenetic Map1q42NCBI
Cars1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542214,682,178 - 14,738,428 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542214,685,356 - 14,738,420 (-)NCBIChiLan1.0ChiLan1.0
CARS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v295,412,550 - 5,469,223 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1114,624,483 - 4,680,875 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0113,026,787 - 3,083,170 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1113,053,364 - 3,109,602 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl113,053,551 - 3,109,509 (-)Ensemblpanpan1.1panPan2
CARS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11846,959,743 - 47,007,521 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1846,959,743 - 47,007,460 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1845,569,237 - 45,616,798 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01847,639,474 - 47,689,027 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1847,639,476 - 47,689,016 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11847,084,720 - 47,132,414 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01846,667,395 - 46,716,303 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01847,414,145 - 47,462,207 (-)NCBIUU_Cfam_GSD_1.0
Cars1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049473,171,906 - 3,206,741 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367941,115,257 - 1,165,270 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367941,115,111 - 1,165,286 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CARS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl22,119,592 - 2,163,343 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.122,119,576 - 2,163,378 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22494,735 - 533,267 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CARS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.112,812,169 - 2,871,835 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl12,812,016 - 2,871,800 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038100,013,205 - 100,070,093 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cars1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476715,749,862 - 15,809,970 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476715,749,862 - 15,809,985 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CARS1
57 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3 copy number gain See cases [RCV000050947] Chr11:196966..3377077 [GRCh38]
Chr11:196966..3398307 [GRCh37]
Chr11:186966..3354883 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 copy number gain See cases [RCV000050927] Chr11:196966..4435344 [GRCh38]
Chr11:196966..4456574 [GRCh37]
Chr11:186966..4413150 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3 copy number gain See cases [RCV000053614] Chr11:218365..3377077 [GRCh38]
Chr11:218365..3398307 [GRCh37]
Chr11:208365..3354883 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-3624139)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|See cases [RCV000053592] Chr11:196966..3624139 [GRCh38]
Chr11:196966..3645369 [GRCh37]
Chr11:186966..3601945 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3 copy number gain See cases [RCV000136847] Chr11:1537379..3360769 [GRCh38]
Chr11:1558609..3381999 [GRCh37]
Chr11:1515185..3338575 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1 copy number loss See cases [RCV000137066] Chr11:1975511..3624139 [GRCh38]
Chr11:1996741..3645369 [GRCh37]
Chr11:1953317..3601945 [NCBI36]
Chr11:11p15.5-15.4		 uncertain significance
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 copy number gain See cases [RCV000139987] Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1 copy number loss See cases [RCV000142464] Chr11:1132899..3213923 [GRCh38]
Chr11:1126807..3235153 [GRCh37]
Chr11:1116807..3191729 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 copy number gain See cases [RCV000142890] Chr11:196855..5321874 [GRCh38]
Chr11:196855..5343104 [GRCh37]
Chr11:186855..5299680 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3 copy number gain See cases [RCV000446036] Chr11:193187..5291338 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 copy number gain See cases [RCV000449417] Chr11:230615..6644927 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_001014437.3(CARS1):c.633T>A (p.Asp211Glu) single nucleotide variant Inborn genetic diseases [RCV003272872] Chr11:3039212 [GRCh38]
Chr11:3060442 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_001014437.3(CARS1):c.641C>A (p.Ala214Asp) single nucleotide variant Inborn genetic diseases [RCV003268748] Chr11:3039204 [GRCh38]
Chr11:3060434 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3		 pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NM_001014437.3(CARS1):c.980A>G (p.Tyr327Cys) single nucleotide variant Microcephaly, developmental delay, and brittle hair syndrome [RCV001807919] Chr11:3029047 [GRCh38]
Chr11:3050277 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 copy number gain not provided [RCV000683369] Chr11:230615..9704511 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_001014437.3(CARS1):c.1024G>A (p.Gly342Ser) single nucleotide variant not provided [RCV000958619] Chr11:3029003 [GRCh38]
Chr11:3050233 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_001014437.3(CARS1):c.1962C>T (p.Val654=) single nucleotide variant not provided [RCV000970466] Chr11:3015805 [GRCh38]
Chr11:3037035 [GRCh37]
Chr11:11p15.4		 likely benign
NM_001014437.3(CARS1):c.1890C>A (p.Ile630=) single nucleotide variant not provided [RCV000959896] Chr11:3017133 [GRCh38]
Chr11:3038363 [GRCh37]
Chr11:11p15.4		 benign
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) copy number gain Silver-Russell syndrome 1 [RCV000767567] Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3		 pathogenic
NM_001014437.3(CARS1):c.1955T>A (p.Phe652Tyr) single nucleotide variant Microcephaly, developmental delay, and brittle hair syndrome [RCV002284998] Chr11:3015812 [GRCh38]
Chr11:3037042 [GRCh37]
Chr11:11p15.4		 pathogenic|uncertain significance
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NM_001014437.3(CARS1):c.2310dup (p.Ser771fs) duplication Microcephaly, developmental delay, and brittle hair syndrome [RCV001102527] Chr11:3002020..3002021 [GRCh38]
Chr11:3023250..3023251 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_001014437.3(CARS1):c.1271G>A (p.Arg424His) single nucleotide variant Microcephaly, developmental delay, and brittle hair syndrome [RCV001102528] Chr11:3019263 [GRCh38]
Chr11:3040493 [GRCh37]
Chr11:11p15.4		 pathogenic|likely pathogenic
NM_001014437.3(CARS1):c.1387C>T (p.Gln463Ter) single nucleotide variant Microcephaly, developmental delay, and brittle hair syndrome [RCV001102529] Chr11:3019147 [GRCh38]
Chr11:3040377 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_001014437.3(CARS1):c.1325C>T (p.Ser442Leu) single nucleotide variant Microcephaly, developmental delay, and brittle hair syndrome [RCV001102531] Chr11:3019209 [GRCh38]
Chr11:3040439 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_001014437.3(CARS1):c.2004G>T (p.Met668Ile) single nucleotide variant Inborn genetic diseases [RCV003273940] Chr11:3012259 [GRCh38]
Chr11:3033489 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_001014437.3(CARS1):c.687C>T (p.Pro229=) single nucleotide variant not provided [RCV000883319] Chr11:3038164 [GRCh38]
Chr11:3059394 [GRCh37]
Chr11:11p15.4		 benign
NM_001014437.3(CARS1):c.853C>T (p.Leu285Phe) single nucleotide variant not provided [RCV000906516] Chr11:3029392 [GRCh38]
Chr11:3050622 [GRCh37]
Chr11:11p15.4		 benign
NM_001014437.3(CARS1):c.721G>T (p.Ala241Ser) single nucleotide variant not provided [RCV000955424] Chr11:3038130 [GRCh38]
Chr11:3059360 [GRCh37]
Chr11:11p15.4		 benign
NM_001014437.3(CARS1):c.1509C>T (p.Ala503=) single nucleotide variant not provided [RCV000890859] Chr11:3018636 [GRCh38]
Chr11:3039866 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_001014437.3(CARS1):c.651+3G>A single nucleotide variant not provided [RCV000957632] Chr11:3039191 [GRCh38]
Chr11:3060421 [GRCh37]
Chr11:11p15.4		 benign
NM_001014437.3(CARS1):c.1887C>T (p.Asn629=) single nucleotide variant not provided [RCV000956882] Chr11:3017136 [GRCh38]
Chr11:3038366 [GRCh37]
Chr11:11p15.4		 benign
NM_001014437.3(CARS1):c.1663G>A (p.Ala555Thr) single nucleotide variant Microcephaly, developmental delay, and brittle hair syndrome [RCV002505432]|not provided [RCV000956883] Chr11:3017921 [GRCh38]
Chr11:3039151 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_001014437.3(CARS1):c.848C>G (p.Ser283Cys) single nucleotide variant not provided [RCV000956884] Chr11:3029397 [GRCh38]
Chr11:3050627 [GRCh37]
Chr11:11p15.4		 benign
NM_001014437.3(CARS1):c.585C>T (p.Phe195=) single nucleotide variant not provided [RCV000956885] Chr11:3039260 [GRCh38]
Chr11:3060490 [GRCh37]
Chr11:11p15.4		 benign
NM_001014437.3(CARS1):c.275-8C>T single nucleotide variant not provided [RCV000956886] Chr11:3042264 [GRCh38]
Chr11:3063494 [GRCh37]
Chr11:11p15.4		 benign
GRCh37/hg19 11p15.5-15.4(chr11:2683937-3207439)x3 copy number gain not provided [RCV001006375] Chr11:2683937..3207439 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
NM_001014437.3(CARS1):c.1448T>A (p.Leu483Gln) single nucleotide variant Microcephaly, developmental delay, and brittle hair syndrome [RCV001102530] Chr11:3018697 [GRCh38]
Chr11:3039927 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_001014437.3(CARS1):c.450C>T (p.His150=) single nucleotide variant not provided [RCV001532625] Chr11:3040901 [GRCh38]
Chr11:3062131 [GRCh37]
Chr11:11p15.4		 likely benign
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 copy number gain Silver-Russell syndrome 1 [RCV001263222] Chr11:210300..8664358 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3 copy number gain See cases [RCV001263059] Chr11:230615..4851537 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NC_000011.9:g.(?_298501)_(4113028_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001316682] Chr11:298501..4113028 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:10701-5080415)x2 copy number gain See cases [RCV001310286] Chr11:10701..5080415 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_001014437.3(CARS1):c.1620G>A (p.Lys540=) single nucleotide variant not provided [RCV001726834] Chr11:3018417 [GRCh38]
Chr11:3039647 [GRCh37]
Chr11:11p15.4		 likely benign
NM_001014437.3(CARS1):c.1013T>C (p.Ile338Thr) single nucleotide variant Microcephaly, developmental delay, and brittle hair syndrome [RCV002273285] Chr11:3029014 [GRCh38]
Chr11:3050244 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_001014437.3(CARS1):c.1357C>T (p.Arg453Trp) single nucleotide variant Microcephaly, developmental delay, and brittle hair syndrome [RCV001779962] Chr11:3019177 [GRCh38]
Chr11:3040407 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_001014437.3(CARS1):c.1391C>T (p.Ser464Leu) single nucleotide variant Microcephaly, developmental delay, and brittle hair syndrome [RCV001808249] Chr11:3019143 [GRCh38]
Chr11:3040373 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3 copy number gain not provided [RCV001825269] Chr11:230615..5525355 [GRCh37]
Chr11:11p15.5-15.4		 not provided
NC_000011.9:g.(?_721044)_(3988932_?)dup duplication not provided [RCV003113442] Chr11:721044..3988932 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
NM_001014437.3(CARS1):c.451G>A (p.Ala151Thr) single nucleotide variant Microcephaly, developmental delay, and brittle hair syndrome [RCV002262184] Chr11:3040900 [GRCh38]
Chr11:3062130 [GRCh37]
Chr11:11p15.4		 likely pathogenic
NC_000011.10:g.(499700_4999400)_(5279346_5279697)del deletion Thalassemia, gamma-delta-beta [RCV000015529] Chr11:4999400..5279346 [GRCh38]
Chr11:11p15.5-15.4		 pathogenic
NM_001014437.3(CARS1):c.471T>C (p.Phe157=) single nucleotide variant not provided [RCV002262350] Chr11:3039916 [GRCh38]
Chr11:3061146 [GRCh37]
Chr11:11p15.4		 likely benign
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2		 pathogenic
NM_001014437.3(CARS1):c.1083C>G (p.Ser361Arg) single nucleotide variant Inborn genetic diseases [RCV003299549] Chr11:3026746 [GRCh38]
Chr11:3047976 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_001014437.3(CARS1):c.332G>T (p.Arg111Ile) single nucleotide variant Inborn genetic diseases [RCV003286156] Chr11:3042199 [GRCh38]
Chr11:3063429 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_001014437.3(CARS1):c.1431C>G (p.Phe477Leu) single nucleotide variant Microcephaly, developmental delay, and brittle hair syndrome [RCV002472133] Chr11:3018714 [GRCh38]
Chr11:3039944 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3 copy number gain not provided [RCV002472435] Chr11:230616..8250724 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_001014437.3(CARS1):c.1590C>T (p.Asn530=) single nucleotide variant not provided [RCV003222712] Chr11:3018447 [GRCh38]
Chr11:3039677 [GRCh37]
Chr11:11p15.4		 likely benign
NM_001014437.3(CARS1):c.1100G>A (p.Gly367Glu) single nucleotide variant Inborn genetic diseases [RCV003205858] Chr11:3026729 [GRCh38]
Chr11:3047959 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_001014437.3(CARS1):c.1772A>G (p.Asn591Ser) single nucleotide variant Inborn genetic diseases [RCV003184028] Chr11:3017251 [GRCh38]
Chr11:3038481 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_001014437.3(CARS1):c.2204A>G (p.Glu735Gly) single nucleotide variant Inborn genetic diseases [RCV003208538] Chr11:3005379 [GRCh38]
Chr11:3026609 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_001014437.3(CARS1):c.194A>C (p.His65Pro) single nucleotide variant Inborn genetic diseases [RCV003218184] Chr11:3047833 [GRCh38]
Chr11:3069063 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_001014437.3(CARS1):c.401C>T (p.Thr134Met) single nucleotide variant Inborn genetic diseases [RCV003179260] Chr11:3040950 [GRCh38]
Chr11:3062180 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_001014437.3(CARS1):c.1192C>T (p.Arg398Cys) single nucleotide variant Inborn genetic diseases [RCV003199285] Chr11:3020294 [GRCh38]
Chr11:3041524 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_001014437.3(CARS1):c.1852G>A (p.Val618Met) single nucleotide variant Inborn genetic diseases [RCV003178180] Chr11:3017171 [GRCh38]
Chr11:3038401 [GRCh37]
Chr11:11p15.4		 likely benign
NM_001014437.3(CARS1):c.1604C>T (p.Ala535Val) single nucleotide variant Inborn genetic diseases [RCV003265038] Chr11:3018433 [GRCh38]
Chr11:3039663 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_001014437.3(CARS1):c.680C>T (p.Thr227Met) single nucleotide variant Inborn genetic diseases [RCV003367290] Chr11:3038171 [GRCh38]
Chr11:3059401 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_001014437.3(CARS1):c.286C>T (p.Arg96Cys) single nucleotide variant Inborn genetic diseases [RCV003364881] Chr11:3042245 [GRCh38]
Chr11:3063475 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_001014437.3(CARS1):c.1891G>A (p.Ala631Thr) single nucleotide variant Inborn genetic diseases [RCV003378398] Chr11:3017132 [GRCh38]
Chr11:3038362 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_001014437.3(CARS1):c.721G>A (p.Ala241Thr) single nucleotide variant Inborn genetic diseases [RCV003350891] Chr11:3038130 [GRCh38]
Chr11:3059360 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_001014437.3(CARS1):c.2481T>G (p.Asn827Lys) single nucleotide variant Inborn genetic diseases [RCV003361823] Chr11:3001129 [GRCh38]
Chr11:3022359 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_001014437.3(CARS1):c.845A>C (p.Asp282Ala) single nucleotide variant Inborn genetic diseases [RCV003369317] Chr11:3029400 [GRCh38]
Chr11:3050630 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_001014437.3(CARS1):c.926A>G (p.Asp309Gly) single nucleotide variant Inborn genetic diseases [RCV003366575] Chr11:3029319 [GRCh38]
Chr11:3050549 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3 copy number gain not provided [RCV003484828] Chr11:192764..3362853 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_001014437.3(CARS1):c.2241G>A (p.Lys747=) single nucleotide variant not provided [RCV003390020] Chr11:3002577 [GRCh38]
Chr11:3023807 [GRCh37]
Chr11:11p15.4		 likely benign
NM_001014437.3(CARS1):c.768A>G (p.Arg256=) single nucleotide variant not provided [RCV003390021] Chr11:3038083 [GRCh38]
Chr11:3059313 [GRCh37]
Chr11:11p15.4		 likely benign
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3 copy number gain Russell-Silver syndrome [RCV003444025] Chr11:230615..8821443 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_001014437.3(CARS1):c.1611A>G (p.Gln537=) single nucleotide variant not provided [RCV003394767] Chr11:3018426 [GRCh38]
Chr11:3039656 [GRCh37]
Chr11:11p15.4		 likely benign
NM_001014437.3(CARS1):c.1788C>T (p.Thr596=) single nucleotide variant not provided [RCV003394766] Chr11:3017235 [GRCh38]
Chr11:3038465 [GRCh37]
Chr11:11p15.4		 benign
NM_001014437.3(CARS1):c.891G>A (p.Lys297=) single nucleotide variant not provided [RCV003394768] Chr11:3029354 [GRCh38]
Chr11:3050584 [GRCh37]
Chr11:11p15.4		 likely benign
NM_001014437.3(CARS1):c.234_237delinsCAAAGGAGCTTT (p.Ser79fs) indel Microcephaly, developmental delay, and brittle hair syndrome [RCV003388559] Chr11:3047790..3047793 [GRCh38]
Chr11:3069020..3069023 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_001014437.3(CARS1):c.-1C>T single nucleotide variant CARS1-related condition [RCV003901591] Chr11:3057368 [GRCh38]
Chr11:3078598 [GRCh37]
Chr11:11p15.4		 likely benign
NM_001014437.3(CARS1):c.402G>A (p.Thr134=) single nucleotide variant not provided [RCV003886881] Chr11:3040949 [GRCh38]
Chr11:3062179 [GRCh37]
Chr11:11p15.4		 likely benign
NM_001014437.3(CARS1):c.288T>G (p.Arg96=) single nucleotide variant CARS1-related condition [RCV003912288] Chr11:3042243 [GRCh38]
Chr11:3063473 [GRCh37]
Chr11:11p15.4		 likely benign
NM_001014437.3(CARS1):c.568C>T (p.Arg190Trp) single nucleotide variant CARS1-related condition [RCV003916809] Chr11:3039277 [GRCh38]
Chr11:3060507 [GRCh37]
Chr11:11p15.4		 likely benign
NM_001014437.3(CARS1):c.1970C>T (p.Pro657Leu) single nucleotide variant CARS1-related condition [RCV003971952] Chr11:3015797 [GRCh38]
Chr11:3037027 [GRCh37]
Chr11:11p15.4		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5819
Count of miRNA genes:1098
Interacting mature miRNAs:1373
Transcripts:ENST00000278224, ENST00000380525, ENST00000397111, ENST00000397114, ENST00000401769, ENST00000439280, ENST00000465207, ENST00000465240, ENST00000465331, ENST00000466442, ENST00000470221, ENST00000484484, ENST00000524825, ENST00000526890, ENST00000527330, ENST00000529772, ENST00000531387
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.

Markers in Region
G59279  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37113,060,170 - 3,060,369UniSTSGRCh37
Build 36113,016,746 - 3,016,945RGDNCBI36
Celera113,093,986 - 3,094,185RGD
Cytogenetic Map11p15.5UniSTS
HuRef112,848,708 - 2,848,907UniSTS
TNG Radiation Hybrid Map111377.0UniSTS
D11S3440  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37113,044,345 - 3,044,558UniSTSGRCh37
Build 36113,000,921 - 3,001,134RGDNCBI36
Celera113,078,191 - 3,078,404RGD
Cytogenetic Map11p15.5UniSTS
HuRef112,832,917 - 2,833,130UniSTS
A006N36  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37113,022,213 - 3,022,426UniSTSGRCh37
Build 36112,978,789 - 2,979,002RGDNCBI36
Celera113,056,064 - 3,056,277RGD
Cytogenetic Map11p15.5UniSTS
HuRef112,810,790 - 2,811,003UniSTS
GeneMap99-GB4 RH Map1126.47UniSTS
NCBI RH Map1110.0UniSTS
RH48478  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37113,038,349 - 3,038,500UniSTSGRCh37
Build 36112,994,925 - 2,995,076RGDNCBI36
Celera113,072,195 - 3,072,346RGD
Cytogenetic Map11p15.5UniSTS
HuRef112,826,921 - 2,827,072UniSTS
GeneMap99-GB4 RH Map1111.04UniSTS
RH80030  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map12q15-q21UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2p22.2UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map11q22.2-q22.3UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map10q26.13-q26.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map2q32.2UniSTS
RH27287  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11p15.5UniSTS


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
Medium 2289 1971 1355 317 1754 166 3973 1357 2558 232 1317 1593 165 1191 2412 3
Low 150 1020 371 307 197 299 383 840 1174 187 142 20 10 1 13 376 3 2
Below cutoff 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001014437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001194997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_139273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_036542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_930913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_930914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC001228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC108448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC131971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF288206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF288207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI432096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI608729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU133264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT009913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC376478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L06845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000278224   ⟹   ENSP00000278224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,000,929 - 3,057,418 (-)Ensembl
RefSeq Acc Id: ENST00000380525   ⟹   ENSP00000369897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,000,929 - 3,057,423 (-)Ensembl
RefSeq Acc Id: ENST00000397111   ⟹   ENSP00000380300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,000,922 - 3,057,613 (-)Ensembl
RefSeq Acc Id: ENST00000439280   ⟹   ENSP00000408802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,029,084 - 3,057,429 (-)Ensembl
RefSeq Acc Id: ENST00000465207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,038,131 - 3,040,088 (-)Ensembl
RefSeq Acc Id: ENST00000465240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,019,190 - 3,029,057 (-)Ensembl
RefSeq Acc Id: ENST00000465331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,040,524 - 3,057,437 (-)Ensembl
RefSeq Acc Id: ENST00000466442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,000,930 - 3,008,897 (-)Ensembl
RefSeq Acc Id: ENST00000470221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,000,930 - 3,009,533 (-)Ensembl
RefSeq Acc Id: ENST00000484484
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,000,929 - 3,007,010 (-)Ensembl
RefSeq Acc Id: ENST00000524825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,039,194 - 3,057,441 (-)Ensembl
RefSeq Acc Id: ENST00000526890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,000,930 - 3,057,380 (-)Ensembl
RefSeq Acc Id: ENST00000527330   ⟹   ENSP00000434184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,039,215 - 3,057,416 (-)Ensembl
RefSeq Acc Id: ENST00000529772   ⟹   ENSP00000432619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,000,930 - 3,057,402 (-)Ensembl
RefSeq Acc Id: ENST00000531387   ⟹   ENSP00000431368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,000,922 - 3,057,437 (-)Ensembl
RefSeq Acc Id: ENST00000639317   ⟹   ENSP00000492622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl113,041,014 - 3,057,367 (-)Ensembl
RefSeq Acc Id: NM_001014437   ⟹   NP_001014437
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,000,929 - 3,057,423 (-)NCBI
GRCh37113,022,152 - 3,078,681 (-)ENTREZGENE
Build 36112,978,735 - 3,035,247 (-)NCBI Archive
HuRef112,810,729 - 2,867,223 (-)ENTREZGENE
CHM1_1113,021,034 - 3,077,716 (-)NCBI
T2T-CHM13v2.0113,090,162 - 3,146,645 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001194997   ⟹   NP_001181926
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,000,929 - 3,057,423 (-)NCBI
GRCh37113,022,152 - 3,078,681 (-)ENTREZGENE
HuRef112,810,729 - 2,867,223 (-)ENTREZGENE
CHM1_1113,021,034 - 3,077,716 (-)NCBI
T2T-CHM13v2.0113,090,162 - 3,146,645 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378136   ⟹   NP_001365065
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,000,929 - 3,057,423 (-)NCBI
T2T-CHM13v2.0113,090,162 - 3,146,645 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378137   ⟹   NP_001365066
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,000,929 - 3,057,423 (-)NCBI
T2T-CHM13v2.0113,090,162 - 3,146,645 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378138   ⟹   NP_001365067
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,000,929 - 3,057,423 (-)NCBI
T2T-CHM13v2.0113,090,162 - 3,146,645 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378139   ⟹   NP_001365068
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,000,929 - 3,057,423 (-)NCBI
T2T-CHM13v2.0113,090,162 - 3,146,645 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378140   ⟹   NP_001365069
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,000,929 - 3,040,984 (-)NCBI
T2T-CHM13v2.0113,090,162 - 3,130,206 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001751   ⟹   NP_001742
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,000,929 - 3,057,423 (-)NCBI
GRCh37113,022,152 - 3,078,681 (-)ENTREZGENE
Build 36112,978,735 - 3,035,247 (-)NCBI Archive
HuRef112,810,729 - 2,867,223 (-)ENTREZGENE
CHM1_1113,021,034 - 3,077,716 (-)NCBI
T2T-CHM13v2.0113,090,162 - 3,146,645 (-)NCBI
Sequence:
RefSeq Acc Id: NM_139273   ⟹   NP_644802
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,000,929 - 3,057,423 (-)NCBI
GRCh37113,022,152 - 3,078,681 (-)ENTREZGENE
Build 36112,978,735 - 3,035,247 (-)NCBI Archive
HuRef112,810,729 - 2,867,223 (-)ENTREZGENE
CHM1_1113,021,034 - 3,077,716 (-)NCBI
T2T-CHM13v2.0113,090,162 - 3,146,645 (-)NCBI
Sequence:
RefSeq Acc Id: NR_036542
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,000,929 - 3,057,423 (-)NCBI
GRCh37113,022,152 - 3,078,681 (-)ENTREZGENE
HuRef112,810,729 - 2,867,223 (-)ENTREZGENE
CHM1_1113,021,034 - 3,077,716 (-)NCBI
T2T-CHM13v2.0113,090,162 - 3,146,645 (-)NCBI
Sequence:
RefSeq Acc Id: NR_165428
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,000,929 - 3,057,423 (-)NCBI
T2T-CHM13v2.0113,090,162 - 3,146,645 (-)NCBI
Sequence:
RefSeq Acc Id: NR_165429
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,000,929 - 3,057,423 (-)NCBI
T2T-CHM13v2.0113,090,162 - 3,146,645 (-)NCBI
Sequence:
RefSeq Acc Id: NR_165430
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,000,929 - 3,057,423 (-)NCBI
T2T-CHM13v2.0113,090,162 - 3,146,645 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047427672   ⟹   XP_047283628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,001,893 - 3,057,423 (-)NCBI
RefSeq Acc Id: XM_047427673   ⟹   XP_047283629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,001,893 - 3,057,423 (-)NCBI
RefSeq Acc Id: XM_047427674   ⟹   XP_047283630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,017,856 - 3,057,423 (-)NCBI
RefSeq Acc Id: XM_054370124   ⟹   XP_054226099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0113,091,203 - 3,146,645 (-)NCBI
RefSeq Acc Id: XM_054370125   ⟹   XP_054226100
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0113,091,203 - 3,146,645 (-)NCBI
RefSeq Acc Id: XM_054370126   ⟹   XP_054226101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0113,107,084 - 3,146,645 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001014437 (Get FASTA)   NCBI Sequence Viewer  
  NP_001181926 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365065 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365066 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365067 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365068 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365069 (Get FASTA)   NCBI Sequence Viewer  
  NP_001742 (Get FASTA)   NCBI Sequence Viewer  
  NP_644802 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283628 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283629 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283630 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184847 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184848 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226099 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226100 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226101 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA73901 (Get FASTA)   NCBI Sequence Viewer  
  AAG00578 (Get FASTA)   NCBI Sequence Viewer  
  AAG00579 (Get FASTA)   NCBI Sequence Viewer  
  AAH02880 (Get FASTA)   NCBI Sequence Viewer  
  AAP88915 (Get FASTA)   NCBI Sequence Viewer  
  BAD92051 (Get FASTA)   NCBI Sequence Viewer  
  BAD96334 (Get FASTA)   NCBI Sequence Viewer  
  BAF82121 (Get FASTA)   NCBI Sequence Viewer  
  BAG53256 (Get FASTA)   NCBI Sequence Viewer  
  BAG58331 (Get FASTA)   NCBI Sequence Viewer  
  BAG59343 (Get FASTA)   NCBI Sequence Viewer  
  BAG60719 (Get FASTA)   NCBI Sequence Viewer  
  BAG63885 (Get FASTA)   NCBI Sequence Viewer  
  CAI46108 (Get FASTA)   NCBI Sequence Viewer  
  EAX02536 (Get FASTA)   NCBI Sequence Viewer  
  EAX02537 (Get FASTA)   NCBI Sequence Viewer  
  EAX02538 (Get FASTA)   NCBI Sequence Viewer  
  EAX02539 (Get FASTA)   NCBI Sequence Viewer  
  EAX02540 (Get FASTA)   NCBI Sequence Viewer  
  EAX02541 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000278224
  ENSP00000278224.9
  ENSP00000369897
  ENSP00000369897.4
  ENSP00000380300
  ENSP00000380300.5
  ENSP00000408802.2
  ENSP00000431368.1
  ENSP00000432619
  ENSP00000432619.2
  ENSP00000434184.1
  ENSP00000482336.1
  ENSP00000486161.2
  ENSP00000487923.1
  ENSP00000488062.1
  ENSP00000488476.1
  ENSP00000488657.1
  ENSP00000488737.1
  ENSP00000491592.1
GenBank Protein P49589 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001742   ⟸   NM_001751
- Peptide Label: isoform b
- UniProtKB: Q9HD24 (UniProtKB/Swiss-Prot),   Q5HYE4 (UniProtKB/Swiss-Prot),   Q53XI8 (UniProtKB/Swiss-Prot),   Q9HD25 (UniProtKB/Swiss-Prot),   P49589 (UniProtKB/Swiss-Prot),   Q53HG6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_644802   ⟸   NM_139273
- Peptide Label: isoform a
- UniProtKB: Q53HG6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001014437   ⟸   NM_001014437
- Peptide Label: isoform c
- UniProtKB: B4DPV7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001181926   ⟸   NM_001194997
- Peptide Label: isoform e
- UniProtKB: B4DPV7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001365066   ⟸   NM_001378137
- Peptide Label: isoform g
- UniProtKB: A8MVQ3 (UniProtKB/TrEMBL),   B4DI19 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365067   ⟸   NM_001378138
- Peptide Label: isoform h
- UniProtKB: B4DI19 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365068   ⟸   NM_001378139
- Peptide Label: isoform h
- UniProtKB: B4DI19 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365065   ⟸   NM_001378136
- Peptide Label: isoform f
- UniProtKB: E9PPK8 (UniProtKB/TrEMBL),   B4DKY1 (UniProtKB/TrEMBL),   Q53HG6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365069   ⟸   NM_001378140
- Peptide Label: isoform i
- UniProtKB: B4DI19 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000408802   ⟸   ENST00000439280
RefSeq Acc Id: ENSP00000431368   ⟸   ENST00000531387
RefSeq Acc Id: ENSP00000492622   ⟸   ENST00000639317
RefSeq Acc Id: ENSP00000369897   ⟸   ENST00000380525
RefSeq Acc Id: ENSP00000434184   ⟸   ENST00000527330
RefSeq Acc Id: ENSP00000278224   ⟸   ENST00000278224
RefSeq Acc Id: ENSP00000432619   ⟸   ENST00000529772
RefSeq Acc Id: ENSP00000380300   ⟸   ENST00000397111
RefSeq Acc Id: XP_047283629   ⟸   XM_047427673
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047283628   ⟸   XM_047427672
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047283630   ⟸   XM_047427674
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054226100   ⟸   XM_054370125
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054226099   ⟸   XM_054370124
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054226101   ⟸   XM_054370126
- Peptide Label: isoform X3
Protein Domains
tRNA synthetases class I catalytic

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P49589-F1-model_v2 AlphaFold P49589 1-748 view protein structure

Promoters
RGD ID:6788569
Promoter ID:HG_KWN:12021
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000030266,   OTTHUMT00000030267,   OTTHUMT00000030272
Position:
Human AssemblyChrPosition (strand)Source
Build 36112,984,736 - 2,987,997 (-)MPROMDB
RGD ID:6789505
Promoter ID:HG_KWN:12023
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000030271,   UC001LXI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36113,007,746 - 3,008,246 (+)MPROMDB
RGD ID:6788767
Promoter ID:HG_KWN:12026
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000380525,   ENST00000397111,   ENST00000401769,   OTTHUMT00000030117,   OTTHUMT00000030265,   OTTHUMT00000030268,   OTTHUMT00000030269
Position:
Human AssemblyChrPosition (strand)Source
Build 36113,035,026 - 3,035,526 (-)MPROMDB
RGD ID:6850616
Promoter ID:EP73102
Type:multiple initiation site
Name:HS_CARS
Description:Cysteinyl-tRNA synthetase , transcript variant 2.
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 36113,035,224 - 3,035,284EPD
RGD ID:7219377
Promoter ID:EPDNEW_H15434
Type:initiation region
Name:CARS_1
Description:cysteinyl-tRNA synthetase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15436  EPDNEW_H15437  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,057,418 - 3,057,478EPDNEW
RGD ID:7219381
Promoter ID:EPDNEW_H15436
Type:initiation region
Name:CARS_2
Description:cysteinyl-tRNA synthetase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15434  EPDNEW_H15437  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,057,423 - 3,057,483EPDNEW
RGD ID:7219383
Promoter ID:EPDNEW_H15437
Type:initiation region
Name:CARS_3
Description:cysteinyl-tRNA synthetase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15434  EPDNEW_H15436  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38113,057,643 - 3,057,703EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1493 AgrOrtholog
COSMIC CARS1 COSMIC
Ensembl Genes ENSG00000110619 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000278191 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000278224 ENTREZGENE
  ENST00000278224.13 UniProtKB/Swiss-Prot
  ENST00000380525 ENTREZGENE
  ENST00000380525.9 UniProtKB/Swiss-Prot
  ENST00000397111 ENTREZGENE
  ENST00000397111.9 UniProtKB/Swiss-Prot
  ENST00000439280.6 UniProtKB/TrEMBL
  ENST00000527330.2 UniProtKB/TrEMBL
  ENST00000529772 ENTREZGENE
  ENST00000529772.5 UniProtKB/TrEMBL
  ENST00000531387 ENTREZGENE
  ENST00000531387.5 UniProtKB/TrEMBL
  ENST00000612826.3 UniProtKB/Swiss-Prot
  ENST00000626648.2 UniProtKB/TrEMBL
  ENST00000632612.1 UniProtKB/Swiss-Prot
  ENST00000632806.1 UniProtKB/TrEMBL
  ENST00000633248.1 UniProtKB/Swiss-Prot
  ENST00000633563.1 UniProtKB/TrEMBL
  ENST00000634057.1 UniProtKB/TrEMBL
  ENST00000638215.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1050.130 UniProtKB/TrEMBL
  3.40.50.620 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000110619 GTEx
  ENSG00000278191 GTEx
HGNC ID HGNC:1493 ENTREZGENE
Human Proteome Map CARS1 Human Proteome Map
InterPro Cys-tRNA-ligase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cys-tRNA/MSH_ligase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glutathione-S-Trfase_C_sf UniProtKB/TrEMBL
  Rossmann-like_a/b/a_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  tRNA-synt_1_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  tRNAsynth_Ia_anticodon-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:833 UniProtKB/Swiss-Prot
NCBI Gene 833 ENTREZGENE
OMIM 123859 OMIM
PANTHER CYSTEINE--TRNA LIGASE, CYTOPLASMIC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10890 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam tRNA-synt_1e UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26079 PharmGKB
PRINTS TRNASYNTHCYS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Nucleotidylyl transferase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47323 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47616 UniProtKB/TrEMBL
UniProt A8MVQ3 ENTREZGENE, UniProtKB/TrEMBL
  B4DI19 ENTREZGENE, UniProtKB/TrEMBL
  B4DKY1 ENTREZGENE, UniProtKB/TrEMBL
  B4DPV7 ENTREZGENE, UniProtKB/TrEMBL
  C9JLN0_HUMAN UniProtKB/TrEMBL
  E9PLP0_HUMAN UniProtKB/TrEMBL
  E9PPK8 ENTREZGENE
  E9PRS8_HUMAN UniProtKB/TrEMBL
  P49589 ENTREZGENE
  Q53HG6 ENTREZGENE, UniProtKB/TrEMBL
  Q53XI8 ENTREZGENE
  Q5HYE4 ENTREZGENE
  Q9HD24 ENTREZGENE
  Q9HD25 ENTREZGENE
  SYCC_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary E9PPK8 UniProtKB/TrEMBL
  Q53XI8 UniProtKB/Swiss-Prot
  Q5HYE4 UniProtKB/Swiss-Prot
  Q9HD24 UniProtKB/Swiss-Prot
  Q9HD25 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-07-16 CARS1  cysteinyl-tRNA synthetase 1  CARS  cysteinyl-tRNA synthetase  Symbol and/or name change 5135510 APPROVED