ACY1 (aminoacylase 1) - Rat Genome Database

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Gene: ACY1 (aminoacylase 1) Homo sapiens
Analyze
Symbol: ACY1
Name: aminoacylase 1
RGD ID: 1351880
HGNC Page HGNC:177
Description: Enables aminoacylase activity and identical protein binding activity. Predicted to be involved in amino acid metabolic process. Located in extracellular exosome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACY-1; ACY1D; acylase; aminoacylase-1; epididymis secretory protein Li 5; HEL-S-5; N-acyl-L-amino-acid amidohydrolase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Green Monkey
Alliance Genes
More Info more info ...
Related Pseudogenes: AC096708.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38351,983,535 - 51,989,197 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl351,983,340 - 51,989,197 (+)EnsemblGRCh38hg38GRCh38
GRCh37352,017,551 - 52,023,213 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36351,992,603 - 51,998,258 (+)NCBINCBI36Build 36hg18NCBI36
Build 34351,992,602 - 51,998,258NCBI
Celera351,996,840 - 52,002,495 (+)NCBICelera
Cytogenetic Map3p21.2NCBI
HuRef352,080,641 - 52,086,559 (+)NCBIHuRef
CHM1_1351,969,905 - 51,975,823 (+)NCBICHM1_1
T2T-CHM13v2.0352,016,455 - 52,022,117 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
amitrole  (ISO)
arsenous acid  (EXP)
azoxystrobin  (ISO)
benzo[a]pyrene  (ISO)
beta-naphthoflavone  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
buspirone  (ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
cyclosporin A  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
elemental selenium  (EXP)
epoxiconazole  (ISO)
finasteride  (ISO)
flutamide  (ISO)
genistein  (EXP)
gentamycin  (ISO)
glyphosate  (ISO)
hydrogen peroxide  (EXP)
imidacloprid  (ISO)
indometacin  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
levofloxacin  (ISO)
methimazole  (ISO)
N-nitrosomorpholine  (ISO)
ochratoxin A  (ISO)
paracetamol  (ISO)
perfluorododecanoic acid  (ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (EXP)
pirinixic acid  (ISO)
progesterone  (ISO)
propiconazole  (ISO)
quercetin  (EXP)
quinolin-8-ol  (EXP)
selenium atom  (EXP)
streptozocin  (ISO)
succimer  (ISO)
sulfadimethoxine  (ISO)
sulindac  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thiabendazole  (ISO)
thioacetamide  (ISO)
triptonide  (ISO)
trovafloxacin  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA)
cytosol  (TAS)
extracellular exosome  (HDA,IDA)

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Human aminoacylase-1: cloning, regional assignment to distal chromosome 3p21.1, and identification of a cross-hybridizing sequence on chromosome 18. Miller YE, etal., Genomics 1990 Sep;8(1):149-54.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:373141   PMID:2542383   PMID:2745715   PMID:6248297   PMID:6781469   PMID:6803586   PMID:6948533   PMID:7974002   PMID:8357837   PMID:8394326   PMID:11154063   PMID:11250542  
PMID:12477932   PMID:12548635   PMID:12933810   PMID:15028279   PMID:15489334   PMID:15927344   PMID:15953868   PMID:16189514   PMID:16274666   PMID:16313167   PMID:16404153   PMID:16465618  
PMID:16889417   PMID:16962797   PMID:17045186   PMID:17516490   PMID:17562838   PMID:18341290   PMID:19056867   PMID:21044950   PMID:21082674   PMID:21128244   PMID:21414403   PMID:21516116  
PMID:21832049   PMID:21873635   PMID:21988832   PMID:23317546   PMID:23376485   PMID:23533145   PMID:23739232   PMID:24117009   PMID:24846301   PMID:25416956   PMID:25502805   PMID:26186194  
PMID:26344197   PMID:26496610   PMID:27633755   PMID:28319085   PMID:28514442   PMID:31515488   PMID:31615875   PMID:31753913   PMID:32296183   PMID:32814769   PMID:33619241   PMID:33961781  
PMID:34002044   PMID:35256949   PMID:35831314   PMID:35944360   PMID:36215168  


Genomics

Comparative Map Data
ACY1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38351,983,535 - 51,989,197 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl351,983,340 - 51,989,197 (+)EnsemblGRCh38hg38GRCh38
GRCh37352,017,551 - 52,023,213 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36351,992,603 - 51,998,258 (+)NCBINCBI36Build 36hg18NCBI36
Build 34351,992,602 - 51,998,258NCBI
Celera351,996,840 - 52,002,495 (+)NCBICelera
Cytogenetic Map3p21.2NCBI
HuRef352,080,641 - 52,086,559 (+)NCBIHuRef
CHM1_1351,969,905 - 51,975,823 (+)NCBICHM1_1
T2T-CHM13v2.0352,016,455 - 52,022,117 (+)NCBIT2T-CHM13v2.0
Acy1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm399106,310,180 - 106,315,594 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl9106,310,180 - 106,315,518 (-)EnsemblGRCm39 Ensembl
GRCm389106,432,981 - 106,438,236 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl9106,432,981 - 106,438,319 (-)EnsemblGRCm38mm10GRCm38
MGSCv379106,335,327 - 106,340,567 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv369107,224,755 - 107,230,012 (-)NCBIMGSCv36mm8
MGSCv369106,291,097 - 106,296,337 (-)NCBIMGSCv36mm8
Celera9106,060,386 - 106,065,605 (-)NCBICelera
Cytogenetic Map9F1NCBI
cM Map957.49NCBI
Acy1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr88115,951,068 - 115,956,471 (-)NCBIGRCr8
mRatBN7.28107,072,354 - 107,077,756 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl8107,072,358 - 107,077,682 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx8112,695,324 - 112,700,661 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.08110,894,500 - 110,899,837 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.08108,737,280 - 108,742,617 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.08115,134,792 - 115,140,171 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8115,134,765 - 115,140,080 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08114,498,889 - 114,504,255 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48111,576,888 - 111,581,571 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.18111,596,342 - 111,601,026 (-)NCBI
Celera8106,384,300 - 106,388,983 (-)NCBICelera
Cytogenetic Map8q32NCBI
Acy1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555323,627,274 - 3,631,799 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555323,627,314 - 3,631,799 (+)NCBIChiLan1.0ChiLan1.0
ACY1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2251,977,814 - 51,983,602 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1351,982,730 - 51,988,372 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0351,924,889 - 51,930,638 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1353,153,166 - 53,158,941 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl353,144,802 - 53,158,941 (+)Ensemblpanpan1.1panPan2
ACY1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12037,732,231 - 37,736,986 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2037,713,721 - 37,726,005 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02038,082,813 - 38,095,105 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2037,942,559 - 38,095,121 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12037,446,429 - 37,458,720 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02037,855,192 - 37,867,484 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02038,140,053 - 38,152,347 (-)NCBIUU_Cfam_GSD_1.0
LOC101960098
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560266,552,867 - 66,573,380 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365293,327,879 - 3,333,879 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365293,308,863 - 3,333,877 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACY1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12213,353,446 - 13,359,274 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2213,353,588 - 13,359,569 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041153,547,149 - 153,552,999 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in ACY1
134 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000666.3(ACY1):c.1104_1105dup (p.Pro369fs) microsatellite Aminoacylase 1 deficiency [RCV000019737] Chr3:51988948..51988949 [GRCh38]
Chr3:52022964..52022965 [GRCh37]
Chr3:3p21.2		 pathogenic
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) single nucleotide variant Aminoacylase 1 deficiency [RCV000019738]|Inborn genetic diseases [RCV002514118]|not provided [RCV000514755]|not specified [RCV002222357] Chr3:51988821 [GRCh38]
Chr3:52022837 [GRCh37]
Chr3:3p21.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000666.3(ACY1):c.699A>C (p.Glu233Asp) single nucleotide variant Aminoacylase 1 deficiency [RCV000019739]|Inborn genetic diseases [RCV002514119]|not provided [RCV001169855] Chr3:51987188 [GRCh38]
Chr3:52021204 [GRCh37]
Chr3:3p21.2		 pathogenic|likely pathogenic
NM_000666.3(ACY1):c.360-1G>A single nucleotide variant Aminoacylase 1 deficiency [RCV000019740] Chr3:51986254 [GRCh38]
Chr3:52020270 [GRCh37]
Chr3:3p21.2		 pathogenic
NM_000666.3(ACY1):c.589C>T (p.Arg197Trp) single nucleotide variant Aminoacylase 1 deficiency [RCV000019741] Chr3:51986993 [GRCh38]
Chr3:52021009 [GRCh37]
Chr3:3p21.2		 pathogenic
NM_000666.3(ACY1):c.1178G>A (p.Arg393His) single nucleotide variant ACY1-related condition [RCV003952364]|Aminoacylase 1 deficiency [RCV000019742]|not provided [RCV000488111]|not specified [RCV000292281] Chr3:51989026 [GRCh38]
Chr3:52023042 [GRCh37]
Chr3:3p21.2		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1 copy number loss See cases [RCV000051511] Chr3:49461000..55314500 [GRCh38]
Chr3:49498433..55348528 [GRCh37]
Chr3:49473437..55323568 [NCBI36]
Chr3:3p21.31-14.3		 pathogenic
NM_000666.2(ACY1):c.54G>C (p.Gln18His) single nucleotide variant Malignant melanoma [RCV000060845] Chr3:51984118 [GRCh38]
Chr3:52018134 [GRCh37]
Chr3:51993174 [NCBI36]
Chr3:3p21.2		 not provided
NM_000666.3(ACY1):c.1201G>T (p.Val401Leu) single nucleotide variant Aminoacylase 1 deficiency [RCV001331351] Chr3:51989049 [GRCh38]
Chr3:52023065 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.437-19G>A single nucleotide variant Aminoacylase 1 deficiency [RCV001331353]|not provided [RCV002546465] Chr3:51986396 [GRCh38]
Chr3:52020412 [GRCh37]
Chr3:3p21.2		 likely benign|uncertain significance
NM_000666.3(ACY1):c.1001_1001+5del deletion Aminoacylase 1 deficiency [RCV000149440] Chr3:51988603..51988608 [GRCh38]
Chr3:52022619..52022624 [GRCh37]
Chr3:3p21.2		 pathogenic
NM_000666.3(ACY1):c.921+21A>T single nucleotide variant Aminoacylase 1 deficiency [RCV001331354] Chr3:51987645 [GRCh38]
Chr3:52021661 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.811G>A (p.Ala271Thr) single nucleotide variant Inborn genetic diseases [RCV002517669]|not provided [RCV000174017] Chr3:51987412 [GRCh38]
Chr3:52021428 [GRCh37]
Chr3:3p21.2		 uncertain significance
GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1 copy number loss See cases [RCV000143631] Chr3:51394434..55064449 [GRCh38]
Chr3:51431865..55098476 [GRCh37]
Chr3:51406905..55073516 [NCBI36]
Chr3:3p21.2-14.3		 likely pathogenic
NM_000666.3(ACY1):c.1063-1G>A single nucleotide variant not provided [RCV000578735] Chr3:51988910 [GRCh38]
Chr3:52022926 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.1099C>T (p.Arg367Cys) single nucleotide variant not specified [RCV000239230] Chr3:51988947 [GRCh38]
Chr3:52022963 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.657+15A>G single nucleotide variant not provided [RCV001512382]|not specified [RCV000246857] Chr3:51987076 [GRCh38]
Chr3:52021092 [GRCh37]
Chr3:3p21.2		 benign
NM_000666.3(ACY1):c.708-9A>G single nucleotide variant not provided [RCV001515311]|not specified [RCV000251820] Chr3:51987300 [GRCh38]
Chr3:52021316 [GRCh37]
Chr3:3p21.2		 benign
NM_000666.3(ACY1):c.437-20C>T single nucleotide variant not provided [RCV001522814]|not specified [RCV000251922] Chr3:51986395 [GRCh38]
Chr3:52020411 [GRCh37]
Chr3:3p21.2		 benign
NM_000666.3(ACY1):c.527-17C>A single nucleotide variant not provided [RCV001516338]|not specified [RCV000242271] Chr3:51986588 [GRCh38]
Chr3:52020604 [GRCh37]
Chr3:3p21.2		 benign
NM_000666.3(ACY1):c.1132C>T (p.Arg378Trp) single nucleotide variant Aminoacylase 1 deficiency [RCV001331350]|not provided [RCV000585533] Chr3:51988980 [GRCh38]
Chr3:52022996 [GRCh37]
Chr3:3p21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000666.3(ACY1):c.625C>T (p.Arg209Cys) single nucleotide variant Aminoacylase 1 deficiency [RCV002488861]|Inborn genetic diseases [RCV002521475]|not provided [RCV000416027] Chr3:51987029 [GRCh38]
Chr3:52021045 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.536A>G (p.Asn179Ser) single nucleotide variant ACY1-related condition [RCV003972568]|not provided [RCV000425697] Chr3:51986614 [GRCh38]
Chr3:52020630 [GRCh37]
Chr3:3p21.2		 benign|likely benign
NM_000666.3(ACY1):c.474C>T (p.Phe158=) single nucleotide variant not provided [RCV000585158] Chr3:51986452 [GRCh38]
Chr3:52020468 [GRCh37]
Chr3:3p21.2		 likely benign|uncertain significance
NM_000666.3(ACY1):c.70A>G (p.Thr24Ala) single nucleotide variant Inborn genetic diseases [RCV003283193] Chr3:51984134 [GRCh38]
Chr3:52018150 [GRCh37]
Chr3:3p21.2		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_000666.3(ACY1):c.523G>A (p.Glu175Lys) single nucleotide variant Inborn genetic diseases [RCV003295212] Chr3:51986501 [GRCh38]
Chr3:52020517 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.1001T>C (p.Met334Thr) single nucleotide variant Aminoacylase 1 deficiency [RCV000660453]|Inborn genetic diseases [RCV002532015] Chr3:51988603 [GRCh38]
Chr3:52022619 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.184G>C (p.Val62Leu) single nucleotide variant Intellectual disability [RCV001251868] Chr3:51985385 [GRCh38]
Chr3:52019401 [GRCh37]
Chr3:3p21.2		 likely benign
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p21.2(chr3:51982251-52064510)x1 copy number loss not provided [RCV000742402] Chr3:51982251..52064510 [GRCh37]
Chr3:3p21.2		 benign
GRCh37/hg19 3p21.2(chr3:51985664-52018232)x3 copy number gain not provided [RCV000742403] Chr3:51985664..52018232 [GRCh37]
Chr3:3p21.2		 benign
GRCh37/hg19 3p21.2(chr3:51985664-52020019)x3 copy number gain not provided [RCV000742404] Chr3:51985664..52020019 [GRCh37]
Chr3:3p21.2		 benign
GRCh37/hg19 3p21.2(chr3:51985664-52021422)x3 copy number gain not provided [RCV000742405] Chr3:51985664..52021422 [GRCh37]
Chr3:3p21.2		 benign
NM_000666.3(ACY1):c.1063-6C>A single nucleotide variant not provided [RCV000896896] Chr3:51988905 [GRCh38]
Chr3:52022921 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.1014G>A (p.Leu338=) single nucleotide variant not provided [RCV000893902] Chr3:51988778 [GRCh38]
Chr3:52022794 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.1110G>A (p.Val370=) single nucleotide variant not provided [RCV000936404] Chr3:51988958 [GRCh38]
Chr3:52022974 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.597C>A (p.Thr199=) single nucleotide variant not provided [RCV000919759] Chr3:51987001 [GRCh38]
Chr3:52021017 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.575dup (p.Ser192fs) duplication Aminoacylase 1 deficiency [RCV000984988]|not provided [RCV001091093] Chr3:51986652..51986653 [GRCh38]
Chr3:52020668..52020669 [GRCh37]
Chr3:3p21.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000666.3(ACY1):c.1062+10T>C single nucleotide variant not provided [RCV000949491] Chr3:51988836 [GRCh38]
Chr3:52022852 [GRCh37]
Chr3:3p21.2		 benign
NM_000666.3(ACY1):c.658-4A>C single nucleotide variant not provided [RCV000923285] Chr3:51987143 [GRCh38]
Chr3:52021159 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.805A>G (p.Met269Val) single nucleotide variant Inborn genetic diseases [RCV002537591]|not provided [RCV000905719] Chr3:51987406 [GRCh38]
Chr3:52021422 [GRCh37]
Chr3:3p21.2		 likely benign|conflicting interpretations of pathogenicity
NM_000666.3(ACY1):c.1156C>T (p.Arg386Cys) single nucleotide variant ACY1-related condition [RCV003910442]|Aminoacylase 1 deficiency [RCV000987274]|not provided [RCV000884398] Chr3:51989004 [GRCh38]
Chr3:52023020 [GRCh37]
Chr3:3p21.2		 benign|likely benign|uncertain significance
NM_000666.3(ACY1):c.1177C>T (p.Arg393Cys) single nucleotide variant ABHD14A-ACY1-related condition [RCV003950565]|Aminoacylase 1 deficiency [RCV001334557]|not provided [RCV000900992] Chr3:51989025 [GRCh38]
Chr3:52023041 [GRCh37]
Chr3:3p21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000666.3(ACY1):c.1125C>T (p.His375=) single nucleotide variant not provided [RCV000901117] Chr3:51988973 [GRCh38]
Chr3:52022989 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.183C>T (p.Thr61=) single nucleotide variant not provided [RCV000901999] Chr3:51985384 [GRCh38]
Chr3:52019400 [GRCh37]
Chr3:3p21.2		 likely benign
GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616) copy number gain not provided [RCV000767704] Chr3:45153770..53878616 [GRCh37]
Chr3:3p21.31-21.1		 pathogenic
NM_000666.3(ACY1):c.1100G>A (p.Arg367His) single nucleotide variant Aminoacylase 1 deficiency [RCV001250065]|not provided [RCV000881001] Chr3:51988948 [GRCh38]
Chr3:52022964 [GRCh37]
Chr3:3p21.2		 likely benign|uncertain significance
NM_000666.3(ACY1):c.894C>T (p.Gly298=) single nucleotide variant not provided [RCV000926542] Chr3:51987597 [GRCh38]
Chr3:52021613 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.384G>T (p.Leu128=) single nucleotide variant ABHD14A-ACY1-related condition [RCV003928463]|not provided [RCV000969352] Chr3:51986279 [GRCh38]
Chr3:52020295 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.81C>G (p.Pro27=) single nucleotide variant ACY1-related condition [RCV003920826]|not provided [RCV000894749] Chr3:51984145 [GRCh38]
Chr3:52018161 [GRCh37]
Chr3:3p21.2		 benign|likely benign
GRCh37/hg19 3p21.2-21.1(chr3:51247306-53069942)x3 copy number gain not provided [RCV001005434] Chr3:51247306..53069942 [GRCh37]
Chr3:3p21.2-21.1		 uncertain significance
NM_000666.3(ACY1):c.436G>T (p.Asp146Tyr) single nucleotide variant not provided [RCV000998079] Chr3:51986331 [GRCh38]
Chr3:52020347 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.1133G>A (p.Arg378Gln) single nucleotide variant Aminoacylase 1 deficiency [RCV002497312]|not provided [RCV000998080] Chr3:51988981 [GRCh38]
Chr3:52022997 [GRCh37]
Chr3:3p21.2		 uncertain significance
NC_000003.11:g.(?_52018081)_(52023091_?)dup duplication not provided [RCV003105279] Chr3:52018081..52023091 [GRCh37]
Chr3:3p21.2		 uncertain significance
NC_000003.11:g.(?_52010900)_(52019232_?)del deletion not provided [RCV003105280] Chr3:52010900..52019232 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.262A>C (p.Lys88Gln) single nucleotide variant not provided [RCV003235846] Chr3:51985463 [GRCh38]
Chr3:52019479 [GRCh37]
Chr3:3p21.2		 uncertain significance
NC_000003.11:g.(?_52018081)_(53845433_?)del deletion not provided [RCV003105312] Chr3:52018081..53845433 [GRCh37]
Chr3:3p21.2-21.1		 uncertain significance
NM_000666.3(ACY1):c.693G>A (p.Glu231=) single nucleotide variant not provided [RCV000925694] Chr3:51987182 [GRCh38]
Chr3:52021198 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.48C>T (p.Phe16=) single nucleotide variant not provided [RCV000905975] Chr3:51984112 [GRCh38]
Chr3:52018128 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.69C>G (p.Arg23=) single nucleotide variant not provided [RCV000953198] Chr3:51984133 [GRCh38]
Chr3:52018149 [GRCh37]
Chr3:3p21.2		 benign|likely benign
NM_000666.3(ACY1):c.135G>C (p.Leu45=) single nucleotide variant not provided [RCV000913807] Chr3:51985247 [GRCh38]
Chr3:52019263 [GRCh37]
Chr3:3p21.2		 benign
NM_000666.3(ACY1):c.1000A>T (p.Met334Leu) single nucleotide variant Aminoacylase 1 deficiency [RCV001250086]|not provided [RCV002570412] Chr3:51988602 [GRCh38]
Chr3:52022618 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.442G>A (p.Glu148Lys) single nucleotide variant Intellectual disability [RCV001251869] Chr3:51986420 [GRCh38]
Chr3:52020436 [GRCh37]
Chr3:3p21.2		 likely benign
GRCh37/hg19 3p21.2-21.1(chr3:51975459-52561678)x4 copy number gain not provided [RCV001259685] Chr3:51975459..52561678 [GRCh37]
Chr3:3p21.2-21.1		 uncertain significance
NM_000666.3(ACY1):c.400C>T (p.Arg134Trp) single nucleotide variant Inborn genetic diseases [RCV003355397]|not provided [RCV001326203] Chr3:51986295 [GRCh38]
Chr3:52020311 [GRCh37]
Chr3:3p21.2		 benign|uncertain significance
NM_000666.3(ACY1):c.19G>C (p.Glu7Gln) single nucleotide variant Aminoacylase 1 deficiency [RCV001331352] Chr3:51984083 [GRCh38]
Chr3:52018099 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.332C>T (p.Ala111Val) single nucleotide variant not provided [RCV001508149] Chr3:51985919 [GRCh38]
Chr3:52019935 [GRCh37]
Chr3:3p21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000666.3(ACY1):c.750C>T (p.Ser250=) single nucleotide variant not provided [RCV003107237] Chr3:51987351 [GRCh38]
Chr3:52021367 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.480_493dup (p.His165fs) duplication not provided [RCV001822168] Chr3:51986457..51986458 [GRCh38]
Chr3:52020473..52020474 [GRCh37]
Chr3:3p21.2		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000666.3(ACY1):c.1047C>A (p.Asn349Lys) single nucleotide variant not provided [RCV002021614] Chr3:51988811 [GRCh38]
Chr3:52022827 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.415A>G (p.Ile139Val) single nucleotide variant not provided [RCV001969015] Chr3:51986310 [GRCh38]
Chr3:52020326 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.94+11G>A single nucleotide variant Aminoacylase 1 deficiency [RCV001822959] Chr3:51984169 [GRCh38]
Chr3:52018185 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.1051T>G (p.Tyr351Asp) single nucleotide variant not provided [RCV001914231] Chr3:51988815 [GRCh38]
Chr3:52022831 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.599_601del (p.Ser200del) deletion not provided [RCV002023808] Chr3:51987001..51987003 [GRCh38]
Chr3:52021017..52021019 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.1001+6C>G single nucleotide variant not provided [RCV001892584] Chr3:51988609 [GRCh38]
Chr3:52022625 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.921+4T>G single nucleotide variant not provided [RCV002040515] Chr3:51987628 [GRCh38]
Chr3:52021644 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.127C>T (p.Arg43Cys) single nucleotide variant not provided [RCV001870585] Chr3:51985239 [GRCh38]
Chr3:52019255 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.312C>G (p.Gly104=) single nucleotide variant not provided [RCV001975657] Chr3:51985899 [GRCh38]
Chr3:52019915 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.732A>G (p.Lys244=) single nucleotide variant not provided [RCV001990322] Chr3:51987333 [GRCh38]
Chr3:52021349 [GRCh37]
Chr3:3p21.2		 likely benign|uncertain significance
NM_000666.3(ACY1):c.58C>G (p.Leu20Val) single nucleotide variant not provided [RCV001936098] Chr3:51984122 [GRCh38]
Chr3:52018138 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.49C>T (p.Arg17Cys) single nucleotide variant not provided [RCV002028514] Chr3:51984113 [GRCh38]
Chr3:52018129 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.1157G>A (p.Arg386His) single nucleotide variant not provided [RCV001926208] Chr3:51989005 [GRCh38]
Chr3:52023021 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.1022A>G (p.Glu341Gly) single nucleotide variant Inborn genetic diseases [RCV002553472]|not provided [RCV001924879] Chr3:51988786 [GRCh38]
Chr3:52022802 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.777C>T (p.Gly259=) single nucleotide variant not provided [RCV002107232] Chr3:51987378 [GRCh38]
Chr3:52021394 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.265-7C>T single nucleotide variant ABHD14A-ACY1-related condition [RCV003913696]|not provided [RCV002127009] Chr3:51985845 [GRCh38]
Chr3:52019861 [GRCh37]
Chr3:3p21.2		 benign|likely benign
NM_000666.3(ACY1):c.318C>T (p.Ile106=) single nucleotide variant not provided [RCV002165275] Chr3:51985905 [GRCh38]
Chr3:52019921 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.708-17C>T single nucleotide variant not provided [RCV002173356] Chr3:51987292 [GRCh38]
Chr3:52021308 [GRCh37]
Chr3:3p21.2		 benign
NM_000666.3(ACY1):c.853-17C>T single nucleotide variant not provided [RCV002094764] Chr3:51987539 [GRCh38]
Chr3:52021555 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.657+12C>T single nucleotide variant not provided [RCV002094763] Chr3:51987073 [GRCh38]
Chr3:52021089 [GRCh37]
Chr3:3p21.2		 benign
NM_000666.3(ACY1):c.707+10C>A single nucleotide variant not provided [RCV002122446] Chr3:51987206 [GRCh38]
Chr3:52021222 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.1107T>C (p.Pro369=) single nucleotide variant not provided [RCV002083511] Chr3:51988955 [GRCh38]
Chr3:52022971 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.1119C>T (p.His373=) single nucleotide variant not provided [RCV002163582] Chr3:51988967 [GRCh38]
Chr3:52022983 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.187T>C (p.Leu63=) single nucleotide variant not provided [RCV002202189] Chr3:51985388 [GRCh38]
Chr3:52019404 [GRCh37]
Chr3:3p21.2		 likely benign
NC_000003.11:g.(?_52018081)_(52188388_?)del deletion not provided [RCV003119584] Chr3:52018081..52188388 [GRCh37]
Chr3:3p21.2		 pathogenic
NM_000666.3(ACY1):c.1058G>A (p.Arg353His) single nucleotide variant Aminoacylase 1 deficiency [RCV002254885] Chr3:51988822 [GRCh38]
Chr3:52022838 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.325A>G (p.Arg109Gly) single nucleotide variant Aminoacylase 1 deficiency [RCV002254886] Chr3:51985912 [GRCh38]
Chr3:52019928 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.1090C>T (p.Pro364Ser) single nucleotide variant not provided [RCV002274524] Chr3:51988938 [GRCh38]
Chr3:52022954 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.734_735del (p.Glu245fs) microsatellite Aminoacylase 1 deficiency [RCV002266825] Chr3:51987333..51987334 [GRCh38]
Chr3:52021349..52021350 [GRCh37]
Chr3:3p21.2		 likely pathogenic
NM_000666.3(ACY1):c.353G>C (p.Ser118Thr) single nucleotide variant not provided [RCV002274526] Chr3:51985940 [GRCh38]
Chr3:52019956 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.481C>G (p.Arg161Gly) single nucleotide variant not provided [RCV002469513] Chr3:51986459 [GRCh38]
Chr3:52020475 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.796C>A (p.Pro266Thr) single nucleotide variant Inborn genetic diseases [RCV003307120] Chr3:51987397 [GRCh38]
Chr3:52021413 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.423G>C (p.Met141Ile) single nucleotide variant Inborn genetic diseases [RCV002837137] Chr3:51986318 [GRCh38]
Chr3:52020334 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.871C>G (p.Gln291Glu) single nucleotide variant not provided [RCV002967764] Chr3:51987574 [GRCh38]
Chr3:52021590 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.836C>T (p.Pro279Leu) single nucleotide variant Inborn genetic diseases [RCV002778273] Chr3:51987437 [GRCh38]
Chr3:52021453 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.1041T>C (p.Thr347=) single nucleotide variant not provided [RCV002618365] Chr3:51988805 [GRCh38]
Chr3:52022821 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.689G>A (p.Arg230Gln) single nucleotide variant Inborn genetic diseases [RCV002754507] Chr3:51987178 [GRCh38]
Chr3:52021194 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.466G>A (p.Glu156Lys) single nucleotide variant Inborn genetic diseases [RCV002682049] Chr3:51986444 [GRCh38]
Chr3:52020460 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.307G>C (p.Glu103Gln) single nucleotide variant Inborn genetic diseases [RCV002732926] Chr3:51985894 [GRCh38]
Chr3:52019910 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.961A>G (p.Asn321Asp) single nucleotide variant not provided [RCV002730780] Chr3:51988563 [GRCh38]
Chr3:52022579 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.309G>A (p.Glu103=) single nucleotide variant not provided [RCV002889539] Chr3:51985896 [GRCh38]
Chr3:52019912 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.1059C>T (p.Arg353=) single nucleotide variant not provided [RCV003055136] Chr3:51988823 [GRCh38]
Chr3:52022839 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.922-5C>T single nucleotide variant not provided [RCV002662825] Chr3:51988519 [GRCh38]
Chr3:52022535 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.708-7A>T single nucleotide variant not provided [RCV003080577] Chr3:51987302 [GRCh38]
Chr3:52021318 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.707+15G>A single nucleotide variant not provided [RCV002909687] Chr3:51987211 [GRCh38]
Chr3:52021227 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.837G>A (p.Pro279=) single nucleotide variant not provided [RCV002756919] Chr3:51987438 [GRCh38]
Chr3:52021454 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.50G>T (p.Arg17Leu) single nucleotide variant not provided [RCV003019686] Chr3:51984114 [GRCh38]
Chr3:52018130 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.465G>A (p.Met155Ile) single nucleotide variant Inborn genetic diseases [RCV002660239] Chr3:51986443 [GRCh38]
Chr3:52020459 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.299A>G (p.Lys100Arg) single nucleotide variant Inborn genetic diseases [RCV002924143] Chr3:51985886 [GRCh38]
Chr3:52019902 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.36G>C (p.Ser12=) single nucleotide variant not provided [RCV002870868] Chr3:51984100 [GRCh38]
Chr3:52018116 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.895G>A (p.Glu299Lys) single nucleotide variant not provided [RCV003079506] Chr3:51987598 [GRCh38]
Chr3:52021614 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.1217G>T (p.Ser406Ile) single nucleotide variant not provided [RCV002828632] Chr3:51989065 [GRCh38]
Chr3:52023081 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.470T>C (p.Leu157Pro) single nucleotide variant not provided [RCV002625966] Chr3:51986448 [GRCh38]
Chr3:52020464 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.1190C>T (p.Ala397Val) single nucleotide variant not provided [RCV002626997] Chr3:51989038 [GRCh38]
Chr3:52023054 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.95-11T>G single nucleotide variant not provided [RCV002663583] Chr3:51985196 [GRCh38]
Chr3:52019212 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.839A>C (p.Asp280Ala) single nucleotide variant not provided [RCV002627127] Chr3:51987440 [GRCh38]
Chr3:52021456 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.106G>T (p.Ala36Ser) single nucleotide variant not provided [RCV002642768] Chr3:51985218 [GRCh38]
Chr3:52019234 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.919C>T (p.Gln307Ter) single nucleotide variant not provided [RCV002801278] Chr3:51987622 [GRCh38]
Chr3:52021638 [GRCh37]
Chr3:3p21.2		 pathogenic|uncertain significance
NM_000666.3(ACY1):c.571C>T (p.Arg191Trp) single nucleotide variant not provided [RCV002667109] Chr3:51986649 [GRCh38]
Chr3:52020665 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.1023dup (p.Ile342fs) duplication not provided [RCV002766548] Chr3:51988786..51988787 [GRCh38]
Chr3:52022802..52022803 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.986G>A (p.Arg329Gln) single nucleotide variant not provided [RCV002938760] Chr3:51988588 [GRCh38]
Chr3:52022604 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.280G>A (p.Asp94Asn) single nucleotide variant not provided [RCV002578518] Chr3:51985867 [GRCh38]
Chr3:52019883 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.935C>T (p.Pro312Leu) single nucleotide variant Inborn genetic diseases [RCV002769076] Chr3:51988537 [GRCh38]
Chr3:52022553 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.369dup (p.Ala124fs) duplication not provided [RCV002576904] Chr3:51986262..51986263 [GRCh38]
Chr3:52020278..52020279 [GRCh37]
Chr3:3p21.2		 pathogenic
NM_000666.3(ACY1):c.1168A>G (p.Ile390Val) single nucleotide variant Inborn genetic diseases [RCV002965333] Chr3:51989016 [GRCh38]
Chr3:52023032 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.1063-9C>T single nucleotide variant not provided [RCV002630202] Chr3:51988902 [GRCh38]
Chr3:52022918 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.1049G>A (p.Arg350His) single nucleotide variant not provided [RCV002650325] Chr3:51988813 [GRCh38]
Chr3:52022829 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.95-9_95-8del microsatellite not provided [RCV002646059] Chr3:51985196..51985197 [GRCh38]
Chr3:52019212..52019213 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.624A>G (p.Ser208=) single nucleotide variant not provided [RCV003009329] Chr3:51987028 [GRCh38]
Chr3:52021044 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.853-16G>A single nucleotide variant not provided [RCV002604102] Chr3:51987540 [GRCh38]
Chr3:52021556 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.991T>C (p.Cys331Arg) single nucleotide variant not provided [RCV002609274] Chr3:51988593 [GRCh38]
Chr3:52022609 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.853-7C>G single nucleotide variant not provided [RCV002654240] Chr3:51987549 [GRCh38]
Chr3:52021565 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.584-16C>T single nucleotide variant not provided [RCV002613000] Chr3:51986972 [GRCh38]
Chr3:52020988 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.583+14T>A single nucleotide variant not provided [RCV002634713] Chr3:51986675 [GRCh38]
Chr3:52020691 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.360G>T (p.Gln120His) single nucleotide variant Inborn genetic diseases [RCV002723932] Chr3:51986255 [GRCh38]
Chr3:52020271 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.495C>T (p.His165=) single nucleotide variant not provided [RCV002585266] Chr3:51986473 [GRCh38]
Chr3:52020489 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.741C>T (p.Ser247=) single nucleotide variant not provided [RCV002633151] Chr3:51987342 [GRCh38]
Chr3:52021358 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.657+4C>T single nucleotide variant not provided [RCV002586222] Chr3:51987065 [GRCh38]
Chr3:52021081 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.1169T>A (p.Ile390Lys) single nucleotide variant Inborn genetic diseases [RCV003205378] Chr3:51989017 [GRCh38]
Chr3:52023033 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.626G>A (p.Arg209His) single nucleotide variant not provided [RCV003318850] Chr3:51987030 [GRCh38]
Chr3:52021046 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.482G>A (p.Arg161Gln) single nucleotide variant Inborn genetic diseases [RCV003378977] Chr3:51986460 [GRCh38]
Chr3:52020476 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.455A>G (p.His152Arg) single nucleotide variant Inborn genetic diseases [RCV003369240] Chr3:51986433 [GRCh38]
Chr3:52020449 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.160-1G>A single nucleotide variant Aminoacylase 1 deficiency [RCV003479624] Chr3:51985360 [GRCh38]
Chr3:52019376 [GRCh37]
Chr3:3p21.2		 likely pathogenic
NM_000666.3(ACY1):c.359+11T>C single nucleotide variant not provided [RCV003828252] Chr3:51985957 [GRCh38]
Chr3:52019973 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.94+10C>T single nucleotide variant not provided [RCV003739222] Chr3:51984168 [GRCh38]
Chr3:52018184 [GRCh37]
Chr3:3p21.2		 benign
NM_000666.3(ACY1):c.1002-13C>G single nucleotide variant not provided [RCV003721084] Chr3:51988753 [GRCh38]
Chr3:52022769 [GRCh37]
Chr3:3p21.2		 likely benign
GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1 copy number loss not specified [RCV003986409] Chr3:51149374..59265315 [GRCh37]
Chr3:3p21.2-14.2		 pathogenic
NM_000666.3(ACY1):c.537T>C (p.Asn179=) single nucleotide variant not provided [RCV003721590] Chr3:51986615 [GRCh38]
Chr3:52020631 [GRCh37]
Chr3:3p21.2		 benign
NM_000666.3(ACY1):c.1179C>T (p.Arg393=) single nucleotide variant not provided [RCV003821282] Chr3:51989027 [GRCh38]
Chr3:52023043 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.521A>G (p.Asp174Gly) single nucleotide variant ACY1-related condition [RCV003894701] Chr3:51986499 [GRCh38]
Chr3:52020515 [GRCh37]
Chr3:3p21.2		 uncertain significance
NM_000666.3(ACY1):c.1001+8C>T single nucleotide variant ACY1-related condition [RCV003944126] Chr3:51988611 [GRCh38]
Chr3:52022627 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.242C>T (p.Thr81Met) single nucleotide variant ACY1-related condition [RCV003931802] Chr3:51985443 [GRCh38]
Chr3:52019459 [GRCh37]
Chr3:3p21.2		 likely benign
NM_000666.3(ACY1):c.517del (p.Leu173fs) deletion ACY1-related condition [RCV003894636] Chr3:51986493 [GRCh38]
Chr3:52020509 [GRCh37]
Chr3:3p21.2		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3774
Count of miRNA genes:944
Interacting mature miRNAs:1177
Transcripts:ENST00000404366, ENST00000458031, ENST00000464587, ENST00000465121, ENST00000468068, ENST00000469863, ENST00000476351, ENST00000476854, ENST00000490244, ENST00000491318, ENST00000494103, ENST00000496679
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
RH11608  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37352,023,006 - 52,023,167UniSTSGRCh37
Build 36351,998,046 - 51,998,207RGDNCBI36
Celera352,002,283 - 52,002,444RGD
Cytogenetic Map3pUniSTS
Cytogenetic Map3p21.1UniSTS
HuRef352,086,347 - 52,086,508UniSTS
GeneMap99-GB4 RH Map3160.02UniSTS
RH66446  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37352,023,020 - 52,023,165UniSTSGRCh37
Build 36351,998,060 - 51,998,205RGDNCBI36
Celera352,002,297 - 52,002,442RGD
Cytogenetic Map3pUniSTS
Cytogenetic Map3p21.1UniSTS
HuRef352,086,361 - 52,086,506UniSTS
D3S1660  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37352,017,437 - 52,017,605UniSTSGRCh37
Build 36351,992,477 - 51,992,645RGDNCBI36
Celera351,996,714 - 51,996,882RGD
Cytogenetic Map3p14-q13UniSTS
Cytogenetic Map3p21.1UniSTS
HuRef352,080,778 - 52,080,946UniSTS
GDB:251741  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37352,023,089 - 52,023,217UniSTSGRCh37
Build 36351,998,129 - 51,998,257RGDNCBI36
Celera351,980,521 - 51,980,649RGD
Celera352,002,366 - 52,002,494UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map3p21.1UniSTS
HuRef352,086,430 - 52,086,558UniSTS
RH135818  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37352,017,137 - 52,017,248UniSTSGRCh37
Build 36351,992,177 - 51,992,288RGDNCBI36
Celera351,996,414 - 51,996,525RGD
Cytogenetic Map3p21.1UniSTS
HuRef352,080,478 - 52,080,589UniSTS


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 1148 625 1428 466 410 309 2955 986 1588 163 848 1157 159 1108 1890 2 2
Low 1291 2329 290 150 1372 148 1401 1203 2117 252 593 453 16 1 96 897 4
Below cutoff 33 8 8 159 8 1 8 27 4 19 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001198895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001198896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001198897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001198898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC115284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE269642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD014023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD014026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD014027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D14524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D16307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L07548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000404366   ⟹   ENSP00000384296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,983,477 - 51,989,195 (+)Ensembl
RefSeq Acc Id: ENST00000464587
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,986,210 - 51,987,453 (+)Ensembl
RefSeq Acc Id: ENST00000465121
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,983,535 - 51,988,230 (+)Ensembl
RefSeq Acc Id: ENST00000468068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,984,845 - 51,986,281 (+)Ensembl
RefSeq Acc Id: ENST00000469863   ⟹   ENSP00000419830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,983,537 - 51,987,061 (+)Ensembl
RefSeq Acc Id: ENST00000476351   ⟹   ENSP00000417056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,983,443 - 51,989,197 (+)Ensembl
RefSeq Acc Id: ENST00000476854   ⟹   ENSP00000419262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,983,443 - 51,989,197 (+)Ensembl
RefSeq Acc Id: ENST00000490244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,988,302 - 51,989,197 (+)Ensembl
RefSeq Acc Id: ENST00000491318   ⟹   ENSP00000418683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,983,443 - 51,989,197 (+)Ensembl
RefSeq Acc Id: ENST00000494103   ⟹   ENSP00000417618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,983,443 - 51,989,197 (+)Ensembl
RefSeq Acc Id: ENST00000496679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,983,340 - 51,984,577 (+)Ensembl
RefSeq Acc Id: ENST00000635797   ⟹   ENSP00000490007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,983,535 - 51,989,174 (+)Ensembl
RefSeq Acc Id: ENST00000635941   ⟹   ENSP00000490309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,984,137 - 51,989,153 (+)Ensembl
RefSeq Acc Id: ENST00000636047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,984,088 - 51,986,980 (+)Ensembl
RefSeq Acc Id: ENST00000636358   ⟹   ENSP00000490149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,983,535 - 51,989,197 (+)Ensembl
RefSeq Acc Id: ENST00000636556   ⟹   ENSP00000490500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,983,473 - 51,987,379 (+)Ensembl
RefSeq Acc Id: ENST00000636880   ⟹   ENSP00000489947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,983,435 - 51,989,197 (+)Ensembl
RefSeq Acc Id: ENST00000637034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,987,057 - 51,989,160 (+)Ensembl
RefSeq Acc Id: ENST00000637102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,987,230 - 51,988,819 (+)Ensembl
RefSeq Acc Id: ENST00000637149   ⟹   ENSP00000490497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,987,431 - 51,989,143 (+)Ensembl
RefSeq Acc Id: ENST00000637199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,986,932 - 51,989,165 (+)Ensembl
RefSeq Acc Id: ENST00000637209   ⟹   ENSP00000490708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,983,415 - 51,987,153 (+)Ensembl
RefSeq Acc Id: ENST00000637251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,984,863 - 51,987,070 (+)Ensembl
RefSeq Acc Id: ENST00000637349   ⟹   ENSP00000489688
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,983,523 - 51,987,611 (+)Ensembl
RefSeq Acc Id: ENST00000637460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,983,527 - 51,987,339 (+)Ensembl
RefSeq Acc Id: ENST00000637746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,987,331 - 51,989,160 (+)Ensembl
RefSeq Acc Id: ENST00000638077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,988,473 - 51,989,174 (+)Ensembl
RefSeq Acc Id: ENST00000638096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,986,599 - 51,988,064 (+)Ensembl
RefSeq Acc Id: ENST00000638136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl351,984,871 - 51,989,177 (+)Ensembl
RefSeq Acc Id: NM_000666   ⟹   NP_000657
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38351,983,535 - 51,989,197 (+)NCBI
GRCh37352,017,300 - 52,023,218 (+)ENTREZGENE
Build 36351,992,603 - 51,998,258 (+)NCBI Archive
HuRef352,080,641 - 52,086,559 (+)ENTREZGENE
CHM1_1351,969,905 - 51,975,823 (+)NCBI
T2T-CHM13v2.0352,016,455 - 52,022,117 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001198895   ⟹   NP_001185824
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38351,983,535 - 51,989,197 (+)NCBI
GRCh37352,017,300 - 52,023,218 (+)ENTREZGENE
HuRef352,080,641 - 52,086,559 (+)ENTREZGENE
CHM1_1351,969,905 - 51,975,823 (+)NCBI
T2T-CHM13v2.0352,016,455 - 52,022,117 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001198896   ⟹   NP_001185825
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38351,983,535 - 51,989,197 (+)NCBI
GRCh37352,017,300 - 52,023,218 (+)ENTREZGENE
HuRef352,080,641 - 52,086,559 (+)ENTREZGENE
CHM1_1351,969,905 - 51,975,823 (+)NCBI
T2T-CHM13v2.0352,016,455 - 52,022,117 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001198897   ⟹   NP_001185826
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38351,983,535 - 51,989,197 (+)NCBI
GRCh37352,017,300 - 52,023,218 (+)ENTREZGENE
HuRef352,080,641 - 52,086,559 (+)ENTREZGENE
CHM1_1351,969,905 - 51,975,823 (+)NCBI
T2T-CHM13v2.0352,016,455 - 52,022,117 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001198898   ⟹   NP_001185827
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38351,983,535 - 51,989,197 (+)NCBI
GRCh37352,017,300 - 52,023,218 (+)ENTREZGENE
HuRef352,080,641 - 52,086,559 (+)ENTREZGENE
CHM1_1351,969,905 - 51,975,823 (+)NCBI
T2T-CHM13v2.0352,016,455 - 52,022,117 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_000657   ⟸   NM_000666
- Peptide Label: isoform a
- UniProtKB: C9J9D8 (UniProtKB/Swiss-Prot),   C9J6I6 (UniProtKB/Swiss-Prot),   C9JWD4 (UniProtKB/Swiss-Prot),   Q03154 (UniProtKB/Swiss-Prot),   V9HWA0 (UniProtKB/TrEMBL),   A0A1B0GU86 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001185826   ⟸   NM_001198897
- Peptide Label: isoform c
- UniProtKB: A0A1B0GU86 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001185825   ⟸   NM_001198896
- Peptide Label: isoform b
- UniProtKB: A0A1B0GU86 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001185827   ⟸   NM_001198898
- Peptide Label: isoform d
- UniProtKB: A0A1B0GU86 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001185824   ⟸   NM_001198895
- Peptide Label: isoform a
- UniProtKB: C9J9D8 (UniProtKB/Swiss-Prot),   C9J6I6 (UniProtKB/Swiss-Prot),   C9JWD4 (UniProtKB/Swiss-Prot),   Q03154 (UniProtKB/Swiss-Prot),   V9HWA0 (UniProtKB/TrEMBL),   A0A1B0GU86 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000490007   ⟸   ENST00000635797
RefSeq Acc Id: ENSP00000490309   ⟸   ENST00000635941
RefSeq Acc Id: ENSP00000490500   ⟸   ENST00000636556
RefSeq Acc Id: ENSP00000490149   ⟸   ENST00000636358
RefSeq Acc Id: ENSP00000489947   ⟸   ENST00000636880
RefSeq Acc Id: ENSP00000489688   ⟸   ENST00000637349
RefSeq Acc Id: ENSP00000490708   ⟸   ENST00000637209
RefSeq Acc Id: ENSP00000490497   ⟸   ENST00000637149
RefSeq Acc Id: ENSP00000418683   ⟸   ENST00000491318
RefSeq Acc Id: ENSP00000419830   ⟸   ENST00000469863
RefSeq Acc Id: ENSP00000417618   ⟸   ENST00000494103
RefSeq Acc Id: ENSP00000384296   ⟸   ENST00000404366
RefSeq Acc Id: ENSP00000417056   ⟸   ENST00000476351
RefSeq Acc Id: ENSP00000419262   ⟸   ENST00000476854
Protein Domains
Peptidase M20 dimerisation

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q03154-F1-model_v2 AlphaFold Q03154 1-408 view protein structure

Promoters
RGD ID:6864596
Promoter ID:EPDNEW_H5462
Type:initiation region
Name:ACY1_3
Description:aminoacylase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5464  EPDNEW_H5465  EPDNEW_H5463  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38351,983,275 - 51,983,335EPDNEW
RGD ID:6864604
Promoter ID:EPDNEW_H5463
Type:initiation region
Name:ACY1_1
Description:aminoacylase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5462  EPDNEW_H5464  EPDNEW_H5465  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38351,983,535 - 51,983,595EPDNEW
RGD ID:6864598
Promoter ID:EPDNEW_H5464
Type:single initiation site
Name:ACY1_2
Description:aminoacylase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5462  EPDNEW_H5465  EPDNEW_H5463  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38351,984,216 - 51,984,276EPDNEW
RGD ID:6864600
Promoter ID:EPDNEW_H5465
Type:initiation region
Name:ACY1_4
Description:aminoacylase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5462  EPDNEW_H5464  EPDNEW_H5463  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38351,988,612 - 51,988,672EPDNEW
RGD ID:6800581
Promoter ID:HG_KWN:45202
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_000666,   UC003DCN.1,   UC003DCQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36351,991,756 - 51,993,137 (+)MPROMDB
RGD ID:6851756
Promoter ID:EP73683
Type:initiation region
Name:HS_ACY1
Description:Aminoacylase 1.
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 36351,992,591 - 51,992,651EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:177 AgrOrtholog
COSMIC ACY1 COSMIC
Ensembl Genes ENSG00000243989 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000404366 ENTREZGENE
  ENST00000404366.7 UniProtKB/Swiss-Prot
  ENST00000469863.1 UniProtKB/TrEMBL
  ENST00000476351 ENTREZGENE
  ENST00000476351.5 UniProtKB/Swiss-Prot
  ENST00000476854 ENTREZGENE
  ENST00000476854.5 UniProtKB/Swiss-Prot
  ENST00000491318.5 UniProtKB/TrEMBL
  ENST00000494103 ENTREZGENE
  ENST00000494103.5 UniProtKB/Swiss-Prot
  ENST00000635797.1 UniProtKB/TrEMBL
  ENST00000635941.1 UniProtKB/TrEMBL
  ENST00000636358 ENTREZGENE
  ENST00000636358.2 UniProtKB/Swiss-Prot
  ENST00000636556.1 UniProtKB/TrEMBL
  ENST00000636880.1 UniProtKB/TrEMBL
  ENST00000637149.1 UniProtKB/TrEMBL
  ENST00000637209.1 UniProtKB/TrEMBL
  ENST00000637349.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.150.900 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.70.360 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Zn peptidases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000243989 GTEx
HGNC ID HGNC:177 ENTREZGENE
Human Proteome Map ACY1 Human Proteome Map
InterPro ArgE/DapE_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Bact_exopeptidase_dim_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  N-acyl_aa_amidohydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M20_dimer UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:95 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 95 ENTREZGENE
OMIM 104620 OMIM
PANTHER AMINOACYLASE-1 UniProtKB/Swiss-Prot
  AMINOACYLASE-1 UniProtKB/Swiss-Prot
  AMINOACYLASE-1 UniProtKB/TrEMBL
  AMINOACYLASE-1 UniProtKB/TrEMBL
Pfam M20_dimer UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24497 PharmGKB
PIRSF ACY-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ARGE_DAPE_CPG2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARGE_DAPE_CPG2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55031 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Zn-dependent exopeptidases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z385_HUMAN UniProtKB/TrEMBL
  A0A1B0GTG3_HUMAN UniProtKB/TrEMBL
  A0A1B0GU36_HUMAN UniProtKB/TrEMBL
  A0A1B0GU86 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0GUZ4_HUMAN UniProtKB/TrEMBL
  A0A1B0GVF7_HUMAN UniProtKB/TrEMBL
  A0A1B0GVG0_HUMAN UniProtKB/TrEMBL
  A0A1B0GVZ3_HUMAN UniProtKB/TrEMBL
  ACY1_HUMAN UniProtKB/Swiss-Prot
  C9J6I6 ENTREZGENE
  C9J9D8 ENTREZGENE
  C9JWD4 ENTREZGENE
  C9JYZ0_HUMAN UniProtKB/TrEMBL
  F8WC59_HUMAN UniProtKB/TrEMBL
  Q03154 ENTREZGENE
  V9HWA0 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary C9J6I6 UniProtKB/Swiss-Prot
  C9J9D8 UniProtKB/Swiss-Prot
  C9JWD4 UniProtKB/Swiss-Prot