GBA (glucosylceramidase beta) - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References FTP Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner
Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: GBA (glucosylceramidase beta) Homo sapiens
Analyze
Symbol: GBA
Name: glucosylceramidase beta
RGD ID: 1607089
HGNC Page HGNC
Description: Exhibits glucosyltransferase activity; hydrolase activity, hydrolyzing O-glycosyl compounds; and scavenger receptor binding activity. Involved in several processes, including regulation of cellular protein metabolic process; regulation of signal transduction; and sphingolipid metabolic process. Localizes to lysosomal membrane. Implicated in Gaucher's disease (multiple); Lewy body dementia; and Parkinson's disease (multiple). Biomarker of Netherton syndrome and psoriasis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: acid beta-glucosidase; alglucerase; beta-GC; beta-glucocerebrosidase; cholesterol glucosyltransferase; cholesteryl-beta-glucosidase; D-glucosyl-N-acylsphingosine glucohydrolase; GBA1; GCB; GLUC; glucosidase, beta, acid; glucosylceramidase; imiglucerase; lysosomal acid GCase; lysosomal acid glucosylceramidase; lysosomal glucocerebrosidase; SGTase
RGD Orthologs
Mouse
Rat
Chinchilla
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: GBAP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1155,234,452 - 155,244,699 (-)EnsemblGRCh38hg38GRCh38
GRCh381155,234,452 - 155,244,627 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371155,204,239 - 155,214,653 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361153,470,867 - 153,481,112 (-)NCBINCBI36hg18NCBI36
Celera1128,277,514 - 128,287,929 (-)NCBI
Cytogenetic Map1q22NCBI
HuRef1126,567,152 - 126,576,952 (-)NCBIHuRef
CHM1_11156,599,733 - 156,610,147 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
antigen processing and presentation  (IEA)
autophagosome organization  (IEA)
autophagy  (IMP)
beta-glucoside catabolic process  (IEA)
brain morphogenesis  (IEA)
cell death in response to oxidative stress  (IMP)
cell maturation  (IEA)
cellular response to starvation  (IEA)
cellular response to tumor necrosis factor  (IMP)
central nervous system development  (ISO)
ceramide biosynthetic process  (IMP)
cerebellar Purkinje cell layer formation  (IEA)
cholesterol metabolic process  (IDA,IEA)
determination of adult lifespan  (IEA)
glucosylceramide catabolic process  (IBA,IDA,IMP)
glucosylceramide metabolic process  (ISO)
glycosphingolipid metabolic process  (TAS)
hematopoietic stem cell proliferation  (IEA)
homeostasis of number of cells  (IEA)
lipid glycosylation  (IDA)
lipid storage  (IEA)
lymphocyte migration  (IEA)
lysosome organization  (IMP)
microglia differentiation  (IEA)
microglial cell proliferation  (IEA)
mitochondrion organization  (IMP)
motor behavior  (IEA)
negative regulation of cellular protein metabolic process  (ISO)
negative regulation of inflammatory response  (IC)
negative regulation of interleukin-6 production  (IDA)
negative regulation of MAP kinase activity  (IMP)
negative regulation of neuron apoptotic process  (IEA)
negative regulation of neuron death  (IGI)
negative regulation of protein-containing complex assembly  (IDA)
nervous system process  (ISO)
neuromuscular process  (IEA)
neuron apoptotic process  (IEA)
neuron projection development  (IMP)
positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization  (IEA)
positive regulation of neuronal action potential  (IMP)
positive regulation of proteasomal ubiquitin-dependent protein catabolic process  (IEA)
positive regulation of protein dephosphorylation  (IMP)
positive regulation of protein lipidation  (IGI)
positive regulation of protein metabolic process  (IGI)
positive regulation of protein-containing complex disassembly  (IDA)
positive regulation of proteolysis involved in cellular protein catabolic process  (IMP)
pyramidal neuron differentiation  (IEA)
regulation of cellular protein metabolic process  (IMP)
regulation of lysosomal protein catabolic process  (TAS)
regulation of macroautophagy  (TAS)
regulation of protein metabolic process  (ISO)
regulation of TOR signaling  (IMP)
regulation of water loss via skin  (IEA)
response to dexamethasone  (IEA)
response to estrogen  (IEA)
response to pH  (IEA)
response to testosterone  (IEA)
response to thyroid hormone  (IEA)
skin morphogenesis  (IEA)
sphingolipid metabolic process  (IEA)
sphingosine biosynthetic process  (IMP)
T cell differentiation in thymus  (IEA)
termination of signal transduction  (IMP)

Cellular Component

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

Human Phenotype
Abdominal pain  (IAGP)
Abnormal autonomic nervous system physiology  (IAGP)
Abnormal myocardium morphology  (IAGP)
Abnormal pattern of respiration  (IAGP)
Abnormal pulmonary Interstitial morphology  (IAGP)
Abnormal temper tantrums  (IAGP)
Abnormal visual fixation  (IAGP)
Abnormality of the eye  (IAGP)
Adult onset  (IAGP)
Agitation  (IAGP)
Akinesia  (IAGP)
Anemia  (IAGP)
Anorexia  (IAGP)
Anteverted nares  (IAGP)
Aortic valve calcification  (IAGP)
Apathy  (IAGP)
Apnea  (IAGP)
Appendicular hypotonia  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Ascites  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Avascular necrosis  (IAGP)
Azoospermia  (IAGP)
Bacterial endocarditis  (IAGP)
Bilateral tonic-clonic seizure with generalized onset  (IAGP)
Biliary tract obstruction  (IAGP)
Bone pain  (IAGP)
Brachycephaly  (IAGP)
Bradykinesia  (IAGP)
Broad-based gait  (IAGP)
Bruising susceptibility  (IAGP)
Bulbar signs  (IAGP)
Cachexia  (IAGP)
Calcification of the aorta  (IAGP)
Cardiac arrest  (IAGP)
Cardiomegaly  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cholelithiasis  (IAGP)
Chronic constipation  (IAGP)
Cirrhosis  (IAGP)
Congenital nonbullous ichthyosiform erythroderma  (IAGP)
Constipation  (IAGP)
Corneal opacity  (IAGP)
Cough  (IAGP)
Death in infancy  (IAGP)
Decreased beta-glucocerebrosidase level  (IAGP)
Decreased body weight  (IAGP)
Decreased fetal movement  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Delusions  (IAGP)
Dementia  (IAGP)
Depressed nasal bridge  (IAGP)
Depressivity  (IAGP)
Desquamation of skin soon after birth  (IAGP)
Diplopia  (IAGP)
Dysarthria  (IAGP)
Dyskinesia  (IAGP)
Dysphagia  (IAGP)
Dyspnea  (IAGP)
Dystonia  (IAGP)
Ecchymosis  (IAGP)
Ectropion  (IAGP)
Encephalopathy  (IAGP)
Epistaxis  (IAGP)
Erlenmeyer flask deformity of the femurs  (IAGP)
Esophageal varix  (IAGP)
Esotropia  (IAGP)
Everted lower lip vermilion  (IAGP)
Everted upper lip vermilion  (IAGP)
Failure to thrive  (IAGP)
Fatigue  (IAGP)
Feeding difficulties  (IAGP)
Fetal akinesia sequence  (IAGP)
Flexion contracture  (IAGP)
Fluctuations in consciousness  (IAGP)
Frequent falls  (IAGP)
Gait disturbance  (IAGP)
Gastric ulcer  (IAGP)
Generalized myoclonic seizure  (IAGP)
Gingival bleeding  (IAGP)
Gliosis  (IAGP)
Global developmental delay  (IAGP)
Hallucinations  (IAGP)
Hallux valgus  (IAGP)
Headache  (IAGP)
Hematuria  (IAGP)
Hepatic failure  (IAGP)
Hepatic fibrosis  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
High palate  (IAGP)
Horizontal nystagmus  (IAGP)
Horizontal supranuclear gaze palsy  (IAGP)
Hydrocephalus  (IAGP)
Hydrops fetalis  (IAGP)
Hyperextensible skin  (IAGP)
Hyperkeratosis  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hyperreflexia  (IAGP)
Hypersplenism  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypertonia  (IAGP)
Hypokinesia  (IAGP)
Hypometric horizontal saccades  (IAGP)
Hypomimic face  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hyporeflexia  (IAGP)
Hyposmia  (IAGP)
Ichthyosis  (IAGP)
Impulsivity  (IAGP)
Increased bone mineral density  (IAGP)
Increased circulating antibody level  (IAGP)
Increased susceptibility to fractures  (IAGP)
Insidious onset  (IAGP)
Intellectual disability  (IAGP)
Intracranial hemorrhage  (IAGP)
Intrauterine growth retardation  (IAGP)
Kyphosis  (IAGP)
Leukopenia  (IAGP)
Lewy bodies  (IAGP)
Limb ataxia  (IAGP)
Low frustration tolerance  (IAGP)
Low-set ears  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Macular atrophy  (IAGP)
Mask-like facies  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Micrographia  (IAGP)
Microtia  (IAGP)
Mitral stenosis  (IAGP)
Mitral valve calcification  (IAGP)
Monotonic speech  (IAGP)
Motor delay  (IAGP)
Multiple myeloma  (IAGP)
Muscle spasm  (IAGP)
Muscular hypotonia  (IAGP)
Myoclonus  (IAGP)
Narrow mouth  (IAGP)
Neonatal death  (IAGP)
Neurological speech impairment  (IAGP)
Neuronal loss in central nervous system  (IAGP)
Nonimmune hydrops fetalis  (IAGP)
Oculomotor apraxia  (IAGP)
Opacification of the corneal stroma  (IAGP)
Open mouth  (IAGP)
Ophthalmoplegia  (IAGP)
Opisthotonus  (IAGP)
Opsoclonus  (IAGP)
Orthostatic hypotension due to autonomic dysfunction  (IAGP)
Osteoarthritis  (IAGP)
Osteolysis  (IAGP)
Osteopenia  (IAGP)
Pancytopenia  (IAGP)
Papilledema  (IAGP)
Paralysis  (IAGP)
Parkinsonism  (IAGP)
Parkinsonism with favorable response to dopaminergic medication  (IAGP)
Pathologic fracture  (IAGP)
Pectus excavatum  (IAGP)
Pedal edema  (IAGP)
Pericardial effusion  (IAGP)
Personality changes  (IAGP)
Pes cavus  (IAGP)
Petechiae  (IAGP)
Polyhydramnios  (IAGP)
Poor wound healing  (IAGP)
Postural instability  (IAGP)
Premature birth  (IAGP)
Progressive  (IAGP)
Progressive neurologic deterioration  (IAGP)
Proteinuria  (IAGP)
Protuberant abdomen  (IAGP)
Psychomotor retardation  (IAGP)
Ptosis  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonary fibrosis  (IAGP)
Pulmonary infiltrates  (IAGP)
Recurrent aspiration pneumonia  (IAGP)
Recurrent respiratory infections  (IAGP)
Respiratory distress  (IAGP)
Resting tremor  (IAGP)
Retrognathia  (IAGP)
Rigidity  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Short stepped shuffling gait  (IAGP)
Shuffling gait  (IAGP)
Skin ulcer  (IAGP)
Sleep disturbance  (IAGP)
Slowed horizontal saccades  (IAGP)
Spastic paraparesis  (IAGP)
Spastic paraplegia  (IAGP)
Spastic/hyperactive bladder  (IAGP)
Spasticity  (IAGP)
Splenomegaly  (IAGP)
Spontaneous, recurrent epistaxis  (IAGP)
Sporadic  (IAGP)
Stillbirth  (IAGP)
Strabismus  (IAGP)
Substantia nigra gliosis  (IAGP)
Supranuclear gaze palsy  (IAGP)
Supranuclear ophthalmoplegia  (IAGP)
Thoracic hypoplasia  (IAGP)
Thoracolumbar kyphosis  (IAGP)
Thrombocytopenia  (IAGP)
Tremor  (IAGP)
Triangular face  (IAGP)
Trismus  (IAGP)
Urinary urgency  (IAGP)
Varicose veins  (IAGP)
Vascular calcification  (IAGP)
Ventriculomegaly  (IAGP)
Vertebral compression fractures  (IAGP)
Visual hallucinations  (IAGP)
Weak voice  (IAGP)
Weight loss  (IAGP)
References

References - curated
1. Alessandrini F, etal., J Invest Dermatol. 2004 Dec;123(6):1030-6.
2. Beilina A and Cookson MR, J Neurochem. 2015 Jul 30. doi: 10.1111/jnc.13266.
3. Clark LN, etal., PLoS One. 2015 May 1;10(5):e0125204. doi: 10.1371/journal.pone.0125204. eCollection 2015.
4. Emre S, etal., Eur J Med Genet. 2008 Jul-Aug;51(4):315-21. doi: 10.1016/j.ejmg.2008.02.004. Epub 2008 Mar 4.
5. Farfel-Becker T, etal., Hum Mol Genet. 2011 Apr 1;20(7):1375-86. Epub 2011 Jan 20.
6. Goker-Alpan O, etal., Acta Neuropathol. 2010 Nov;120(5):641-9. Epub 2010 Sep 14.
7. Hachem JP, etal., J Invest Dermatol. 2006 Jul;126(7):1609-21. Epub 2006 Apr 6.
8. Hu FY, etal., Eur J Neurol. 2010 Dec;17(12):1476-8. doi: 10.1111/j.1468-1331.2010.03097.x.
9. Hunn BH, etal., Trends Neurosci. 2015 Mar;38(3):178-88. doi: 10.1016/j.tins.2014.12.009. Epub 2015 Jan 29.
10. Lesage S, etal., Hum Mol Genet. 2011 Jan 1;20(1):202-10. Epub 2010 Oct 14.
11. Lesage S, etal., Neurology. 2011 Jan 18;76(3):301-3.
12. Li Y, etal., Neurobiol Aging. 2014 Apr;35(4):935.e3-8. doi: 10.1016/j.neurobiolaging.2013.09.019. Epub 2013 Oct 12.
13. Mistry PK, etal., Blood Cells Mol Dis. 2011 Jan 15;46(1):66-72. Epub 2010 Nov 26.
14. Mizukami H, etal., J Clin Invest. 2002 May;109(9):1215-21.
15. Nishioka K, etal., Neurosci Lett. 2010 Jun 21;477(2):57-60. Epub 2009 Nov 27.
16. Nishioka K, etal., Parkinsonism Relat Disord. 2011 Jan;17(1):55-7.
17. OMIM Disease Annotation Pipeline
18. Pipeline to import KEGG annotations from KEGG into RGD
19. Pipeline to import SMPDB annotations from SMPDB into RGD
20. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
21. RGD automated import pipeline for gene-chemical interactions
22. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
23. Rozenberg R, etal., Blood Cells Mol Dis. 2006 Nov-Dec;37(3):204-9. Epub 2006 Oct 23.
Additional References at PubMed
PMID:1572652   PMID:1594045   PMID:1698821   PMID:1899336   PMID:1972019   PMID:1974409   PMID:2295698   PMID:2438102   PMID:2914709   PMID:3001061   PMID:3353383   PMID:3359914  
PMID:3456607   PMID:3472750   PMID:3547401   PMID:3687939   PMID:3863141   PMID:3864160   PMID:4003396   PMID:6091633   PMID:6455062   PMID:6816512   PMID:6885065   PMID:7613473  
PMID:7627184   PMID:7627192   PMID:7916532   PMID:8076951   PMID:8112750   PMID:8118460   PMID:8188616   PMID:8294033   PMID:8432537   PMID:8694790   PMID:8780099   PMID:8790604  
PMID:8829654   PMID:8829663   PMID:8889578   PMID:8889591   PMID:8907609   PMID:8937765   PMID:9040001   PMID:9061570   PMID:9153297   PMID:9182788   PMID:9201993   PMID:9217217  
PMID:9225972   PMID:9279145   PMID:9331372   PMID:9516376   PMID:9554454   PMID:9554746   PMID:9637431   PMID:9650766   PMID:9683600   PMID:9705233   PMID:9851895   PMID:10079102  
PMID:10340647   PMID:10352942   PMID:10360404   PMID:10447266   PMID:10527671   PMID:10649495   PMID:10744424   PMID:11584048   PMID:11708865   PMID:11933202   PMID:12048121   PMID:12107439  
PMID:12173027   PMID:12359135   PMID:12360742   PMID:12360744   PMID:12434014   PMID:12477932   PMID:12482401   PMID:12587096   PMID:12667141   PMID:12754519   PMID:12792654   PMID:12803123  
PMID:12972024   PMID:14728994   PMID:14757764   PMID:14994233   PMID:15146461   PMID:15322500   PMID:15489334   PMID:15517591   PMID:15517592   PMID:15525722   PMID:15591280   PMID:15857183  
PMID:15916907   PMID:15954102   PMID:15967693   PMID:15982918   PMID:16086325   PMID:16148263   PMID:16223608   PMID:16293621   PMID:16329099   PMID:16344560   PMID:16476943   PMID:16781064  
PMID:16790605   PMID:16830265   PMID:16861620   PMID:16981045   PMID:16996765   PMID:17187079   PMID:17427031   PMID:17462935   PMID:17574891   PMID:17620502   PMID:17689991   PMID:17702778  
PMID:17703984   PMID:17713797   PMID:17875915   PMID:17897319   PMID:17996473   PMID:18022370   PMID:18030725   PMID:18074383   PMID:18078074   PMID:18160183   PMID:18178337   PMID:18264947  
PMID:18313951   PMID:18332251   PMID:18338393   PMID:18429048   PMID:18434642   PMID:18541113   PMID:18562733   PMID:18586535   PMID:18619939   PMID:18674488   PMID:18829375   PMID:18852351  
PMID:18979180   PMID:18987351   PMID:19224617   PMID:19260119   PMID:19279008   PMID:19279011   PMID:19286695   PMID:19332698   PMID:19383421   PMID:19394250   PMID:19425057   PMID:19433656  
PMID:19433657   PMID:19458969   PMID:19459886   PMID:19460752   PMID:19527940   PMID:19578116   PMID:19846850   PMID:19882201   PMID:19913121   PMID:19953087   PMID:20004703   PMID:20053430  
PMID:20131388   PMID:20148966   PMID:20177787   PMID:20182943   PMID:20223112   PMID:20301402   PMID:20301446   PMID:20425034   PMID:20580583   PMID:20628086   PMID:20643691   PMID:20700730  
PMID:20729108   PMID:20816920   PMID:20980259   PMID:20980263   PMID:21087600   PMID:21098288   PMID:21221911   PMID:21338444   PMID:21569768   PMID:21621439   PMID:21633851   PMID:21653695  
PMID:21674799   PMID:21700325   PMID:21723784   PMID:21734182   PMID:21742527   PMID:21745757   PMID:21831682   PMID:21856586   PMID:21873635   PMID:21889374   PMID:21915911   PMID:22001711  
PMID:22021190   PMID:22160715   PMID:22167193   PMID:22173904   PMID:22192918   PMID:22220748   PMID:22227325   PMID:22268729   PMID:22282650   PMID:22344629   PMID:22352271   PMID:22387070  
PMID:22427207   PMID:22442429   PMID:22451204   PMID:22493294   PMID:22542428   PMID:22658918   PMID:22659419   PMID:22797727   PMID:22803570   PMID:22812582   PMID:22935721   PMID:22968580  
PMID:23034917   PMID:23035075   PMID:23062841   PMID:23079555   PMID:23151436   PMID:23225227   PMID:23227814   PMID:23255161   PMID:23266198   PMID:23286447   PMID:23376485   PMID:23413260  
PMID:23418083   PMID:23426826   PMID:23434032   PMID:23448517   PMID:23490118   PMID:23533145   PMID:23580063   PMID:23588557   PMID:23635853   PMID:23639447   PMID:23676350   PMID:23699752  
PMID:23719189   PMID:23811968   PMID:23812893   PMID:23936319   PMID:24022302   PMID:24070323   PMID:24095219   PMID:24162852   PMID:24211208   PMID:24219755   PMID:24243800   PMID:24262184  
PMID:24351928   PMID:24434810   PMID:24477431   PMID:24522292   PMID:24531622   PMID:24574503   PMID:24577513   PMID:24756352   PMID:24842889   PMID:24905578   PMID:24919969   PMID:24997549  
PMID:25036637   PMID:25064009   PMID:25084554   PMID:25156829   PMID:25168325   PMID:25202012   PMID:25249066   PMID:25429104   PMID:25448271   PMID:25456120   PMID:25506732   PMID:25518742  
PMID:25535748   PMID:25552189   PMID:25583479   PMID:25600808   PMID:25653295   PMID:25813221   PMID:25914293   PMID:25921289   PMID:25946768   PMID:25952961   PMID:26000814   PMID:26018676  
PMID:26096906   PMID:26117366   PMID:26214314   PMID:26220978   PMID:26268663   PMID:26296077   PMID:26344197   PMID:26388395   PMID:26392287   PMID:26422360   PMID:26496610   PMID:26547032  
PMID:26549049   PMID:26589705   PMID:26601739   PMID:26724485   PMID:26743617   PMID:26849828   PMID:26857292   PMID:26860875   PMID:26868973   PMID:26965692   PMID:26972000   PMID:27019408  
PMID:27027900   PMID:27085534   PMID:27173435   PMID:27238910   PMID:27255555   PMID:27269966   PMID:27378698   PMID:27397011   PMID:27401793   PMID:27449028   PMID:27571329   PMID:27632223  
PMID:27717005   PMID:27723861   PMID:27745782   PMID:27772789   PMID:27777137   PMID:27780739   PMID:27789271   PMID:27802905   PMID:27825739   PMID:27856178   PMID:27864021   PMID:27865684  
PMID:28003644   PMID:28012950   PMID:28030538   PMID:28098348   PMID:28126847   PMID:28141506   PMID:28356566   PMID:28514442   PMID:28574511   PMID:28596107   PMID:28598007   PMID:28675297  
PMID:28712724   PMID:28728889   PMID:28777757   PMID:28779532   PMID:28830825   PMID:28834018   PMID:28894968   PMID:28983119   PMID:28991672   PMID:29029963   PMID:29094781   PMID:29100779  
PMID:29311330   PMID:29378790   PMID:29530815   PMID:29579237   PMID:29784561   PMID:29792872   PMID:29920646   PMID:29934114   PMID:29980418   PMID:30160596   PMID:30192031   PMID:30285649  
PMID:30288804   PMID:30337601   PMID:30340368   PMID:30504558   PMID:30528172   PMID:30573413   PMID:30615125   PMID:30640255   PMID:30764785   PMID:30765263   PMID:30833792   PMID:31065058  
PMID:31076265   PMID:31189032   PMID:31221723   PMID:31251436   PMID:31291241   PMID:31292011   PMID:31594818   PMID:31672490   PMID:31751314   PMID:31755958   PMID:31761523   PMID:31804465  
PMID:31809948   PMID:31899072   PMID:31931749   PMID:31978134   PMID:32092464   PMID:32540937   PMID:32591474   PMID:32620863   PMID:32694731  


Genomics

Comparative Map Data
GBA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1155,234,452 - 155,244,699 (-)EnsemblGRCh38hg38GRCh38
GRCh381155,234,452 - 155,244,627 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371155,204,239 - 155,214,653 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361153,470,867 - 153,481,112 (-)NCBINCBI36hg18NCBI36
Celera1128,277,514 - 128,287,929 (-)NCBI
Cytogenetic Map1q22NCBI
HuRef1126,567,152 - 126,576,952 (-)NCBIHuRef
CHM1_11156,599,733 - 156,610,147 (-)NCBICHM1_1
Gba
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39389,110,223 - 89,116,180 (+)NCBIGRCm39mm39
GRCm38389,202,905 - 89,208,873 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl389,202,928 - 89,208,966 (+)EnsemblGRCm38mm10GRCm38
MGSCv37389,006,850 - 89,012,603 (+)NCBIGRCm37mm9NCBIm37
MGSCv36389,288,867 - 89,294,608 (+)NCBImm8
Celera389,236,609 - 89,242,363 (+)NCBICelera
Cytogenetic Map3F1NCBI
cM Map339.01NCBI
Gba
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.02188,511,781 - 188,522,602 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2188,516,582 - 188,522,601 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02207,931,042 - 207,937,062 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera2168,551,737 - 168,557,757 (+)NCBICelera
Cytogenetic Map2q34NCBI
Gba
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555451,682,097 - 1,689,376 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555451,682,097 - 1,689,373 (-)NCBIChiLan1.0ChiLan1.0
GBA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl742,317,862 - 42,322,864 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1742,317,704 - 42,322,285 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Gba
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365804,715,869 - 4,720,752 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GBA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl494,584,196 - 94,609,745 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1494,583,905 - 94,606,689 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24103,366,844 - 103,389,270 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap4q21NCBI
GBA
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1208,598,110 - 8,631,517 (+)NCBI
ChlSab1.1 Ensembl208,598,628 - 8,630,990 (+)Ensembl
Gba
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248852,315,371 - 2,321,327 (+)NCBI

Position Markers
humgcb1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,210,872 - 155,211,262UniSTSGRCh37
Build 361153,477,496 - 153,477,886RGDNCBI36
Celera1128,284,147 - 128,284,537RGD
Cytogenetic Map1q21UniSTS
HuRef1126,573,170 - 126,573,560UniSTS
AL034327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,201,933 - 155,202,077UniSTSGRCh37
GRCh371155,181,307 - 155,181,451UniSTSGRCh37
Build 361153,447,931 - 153,448,075RGDNCBI36
Celera1128,254,589 - 128,254,733RGD
Celera1128,275,208 - 128,275,352UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1q21UniSTS
HuRef1126,564,495 - 126,564,639UniSTS
HuRef1126,544,411 - 126,544,555UniSTS
GDB:361159  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,205,549 - 155,205,654UniSTSGRCh37
Build 361153,472,173 - 153,472,278RGDNCBI36
Celera1128,278,824 - 128,278,929RGD
Cytogenetic Map1q21UniSTS
HuRef1126,567,848 - 126,567,953UniSTS
G06424  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,183,720 - 155,184,048UniSTSGRCh37
GRCh371155,204,347 - 155,204,675UniSTSGRCh37
Build 361153,450,344 - 153,450,672RGDNCBI36
Celera1128,277,622 - 128,277,950UniSTS
Celera1128,257,003 - 128,257,331RGD
Cytogenetic Map1q22UniSTS
Cytogenetic Map1q21UniSTS
RH71037  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,204,739 - 155,205,556UniSTSGRCh37
Build 361153,471,363 - 153,472,180RGDNCBI36
Celera1128,278,014 - 128,278,831RGD
Cytogenetic Map1q21UniSTS
GeneMap99-GB4 RH Map1538.95UniSTS
NCBI RH Map11091.7UniSTS
RH71038  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,204,914 - 155,205,556UniSTSGRCh37
Build 361153,471,538 - 153,472,180RGDNCBI36
Celera1128,278,189 - 128,278,831RGD
Cytogenetic Map1q21UniSTS
HuRef1126,567,213 - 126,567,855UniSTS
GeneMap99-GB4 RH Map1557.49UniSTS
NCBI RH Map11213.7UniSTS
D1S3500  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,201,094 - 155,201,238UniSTSGRCh37
Build 361153,467,718 - 153,467,862RGDNCBI36
Celera1128,274,369 - 128,274,513RGD
Cytogenetic Map1q21UniSTS
Cytogenetic Map1q22UniSTS
HuRef1126,563,656 - 126,563,800UniSTS
GeneMap99-GB4 RH Map1552.71UniSTS
NCBI RH Map11082.3UniSTS
GBA__6791  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,204,133 - 155,204,821UniSTSGRCh37
GRCh371155,183,506 - 155,184,194UniSTSGRCh37
Build 361153,450,130 - 153,450,818RGDNCBI36
Celera1128,277,408 - 128,278,096UniSTS
Celera1128,256,789 - 128,257,477RGD
RH69089  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,204,350 - 155,204,533UniSTSGRCh37
GRCh371155,183,723 - 155,183,906UniSTSGRCh37
Build 361153,450,347 - 153,450,530RGDNCBI36
Celera1128,277,625 - 128,277,808UniSTS
Celera1128,257,006 - 128,257,189RGD
Cytogenetic Map1q21UniSTS
Cytogenetic Map1q22UniSTS
GeneMap99-GB4 RH Map1554.37UniSTS
NCBI RH Map11210.2UniSTS
MARC_6921-6922:996689842:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,187,892 - 155,188,664UniSTSGRCh37
GRCh371155,209,817 - 155,210,902UniSTSGRCh37
Build 361153,454,516 - 153,455,288RGDNCBI36
Celera1128,283,092 - 128,284,177UniSTS
Celera1128,261,175 - 128,261,947RGD
HuRef1126,550,461 - 126,551,233UniSTS
HuRef1126,572,115 - 126,573,200UniSTS
GDB:607681  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3939
Count of miRNA genes:969
Interacting mature miRNAs:1191
Transcripts:ENST00000327247, ENST00000368373, ENST00000427500, ENST00000428024, ENST00000460156, ENST00000464536, ENST00000467918, ENST00000470104, ENST00000473570, ENST00000478472, ENST00000484489, ENST00000491081, ENST00000493842, ENST00000497670, ENST00000536770
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


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 1771 2096 1441 378 1775 235 3310 628 2081 362 1091 1585 156 1078 1952 5
Low 667 889 285 246 176 230 1047 1563 1653 57 369 28 18 1 126 836 1 2
Below cutoff 6 6

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001005741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001005742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001171811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001171812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC217785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF023268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL547558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU122729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU131071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU140959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU141794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI458641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX382279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX477204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D13286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC297079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K02920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ690771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ690772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ690773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX710179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M16328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M18916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M18917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M19285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M20248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M20282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S44217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S44219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000327247   ⟹   ENSP00000314508
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,234,452 - 155,244,670 (-)Ensembl
RefSeq Acc Id: ENST00000368373   ⟹   ENSP00000357357
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,234,452 - 155,241,249 (-)Ensembl
RefSeq Acc Id: ENST00000427500   ⟹   ENSP00000402577
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,234,559 - 155,241,275 (-)Ensembl
RefSeq Acc Id: ENST00000428024   ⟹   ENSP00000397986
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,234,868 - 155,244,699 (-)Ensembl
RefSeq Acc Id: ENST00000460156
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,237,932 - 155,238,891 (-)Ensembl
RefSeq Acc Id: ENST00000464536
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,234,453 - 155,235,835 (-)Ensembl
RefSeq Acc Id: ENST00000467918
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,239,635 - 155,244,606 (-)Ensembl
RefSeq Acc Id: ENST00000470104
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,239,960 - 155,241,243 (-)Ensembl
RefSeq Acc Id: ENST00000473570
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,238,564 - 155,244,622 (-)Ensembl
RefSeq Acc Id: ENST00000478472
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,234,961 - 155,236,459 (-)Ensembl
RefSeq Acc Id: ENST00000484489
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,235,016 - 155,241,231 (-)Ensembl
RefSeq Acc Id: ENST00000491081
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,236,182 - 155,238,709 (-)Ensembl
RefSeq Acc Id: ENST00000493842
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,238,213 - 155,244,636 (-)Ensembl
RefSeq Acc Id: ENST00000497670
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,236,396 - 155,239,962 (-)Ensembl
RefSeq Acc Id: NM_000157   ⟹   NP_000148
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,234,452 - 155,241,249 (-)NCBI
GRCh371155,204,239 - 155,214,653 (-)ENTREZGENE
Build 361153,470,867 - 153,477,677 (-)NCBI Archive
HuRef1126,567,152 - 126,576,952 (-)NCBI
CHM1_11156,599,733 - 156,606,562 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001005741   ⟹   NP_001005741
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,234,452 - 155,244,627 (-)NCBI
GRCh371155,204,239 - 155,214,653 (-)ENTREZGENE
Build 361153,470,867 - 153,481,112 (-)NCBI Archive
HuRef1126,567,152 - 126,576,952 (-)NCBI
CHM1_11156,599,733 - 156,610,147 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001005742   ⟹   NP_001005742
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,234,452 - 155,244,627 (-)NCBI
GRCh371155,204,239 - 155,214,653 (-)ENTREZGENE
Build 361153,470,867 - 153,481,112 (-)NCBI Archive
HuRef1126,567,152 - 126,576,952 (-)NCBI
CHM1_11156,599,733 - 156,610,147 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001171811   ⟹   NP_001165282
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,234,452 - 155,244,627 (-)NCBI
GRCh371155,204,239 - 155,214,653 (-)ENTREZGENE
HuRef1126,567,152 - 126,576,952 (-)NCBI
CHM1_11156,599,733 - 156,610,147 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001171812   ⟹   NP_001165283
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,234,452 - 155,241,249 (-)NCBI
GRCh371155,204,239 - 155,214,653 (-)ENTREZGENE
HuRef1126,567,152 - 126,576,952 (-)NCBI
CHM1_11156,599,733 - 156,606,559 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000148 (Get FASTA)   NCBI Sequence Viewer  
  NP_001005741 (Get FASTA)   NCBI Sequence Viewer  
  NP_001005742 (Get FASTA)   NCBI Sequence Viewer  
  NP_001165282 (Get FASTA)   NCBI Sequence Viewer  
  NP_001165283 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35873 (Get FASTA)   NCBI Sequence Viewer  
  AAA35874 (Get FASTA)   NCBI Sequence Viewer  
  AAA35875 (Get FASTA)   NCBI Sequence Viewer  
  AAA35876 (Get FASTA)   NCBI Sequence Viewer  
  AAA35877 (Get FASTA)   NCBI Sequence Viewer  
  AAA35878 (Get FASTA)   NCBI Sequence Viewer  
  AAA35879 (Get FASTA)   NCBI Sequence Viewer  
  AAA35880 (Get FASTA)   NCBI Sequence Viewer  
  AAC51820 (Get FASTA)   NCBI Sequence Viewer  
  AAC63056 (Get FASTA)   NCBI Sequence Viewer  
  AAH03356 (Get FASTA)   NCBI Sequence Viewer  
  AID60277 (Get FASTA)   NCBI Sequence Viewer  
  AID60278 (Get FASTA)   NCBI Sequence Viewer  
  AID60279 (Get FASTA)   NCBI Sequence Viewer  
  ASU47376 (Get FASTA)   NCBI Sequence Viewer  
  BAA02545 (Get FASTA)   NCBI Sequence Viewer  
  BAF84600 (Get FASTA)   NCBI Sequence Viewer  
  BAG35404 (Get FASTA)   NCBI Sequence Viewer  
  BAH12898 (Get FASTA)   NCBI Sequence Viewer  
  BAH13232 (Get FASTA)   NCBI Sequence Viewer  
  BAH13357 (Get FASTA)   NCBI Sequence Viewer  
  BAH13365 (Get FASTA)   NCBI Sequence Viewer  
  BAH13467 (Get FASTA)   NCBI Sequence Viewer  
  BAH13574 (Get FASTA)   NCBI Sequence Viewer  
  BAH13605 (Get FASTA)   NCBI Sequence Viewer  
  EAW53100 (Get FASTA)   NCBI Sequence Viewer  
  EAW53101 (Get FASTA)   NCBI Sequence Viewer  
  EAW53102 (Get FASTA)   NCBI Sequence Viewer  
  EAW53103 (Get FASTA)   NCBI Sequence Viewer  
  P04062 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000148   ⟸   NM_000157
- Peptide Label: isoform 1 precursor
- UniProtKB: P04062 (UniProtKB/Swiss-Prot),   A0A068F658 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001165283   ⟸   NM_001171812
- Peptide Label: isoform 3
- UniProtKB: P04062 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001165282   ⟸   NM_001171811
- Peptide Label: isoform 2
- UniProtKB: P04062 (UniProtKB/Swiss-Prot),   B7Z6S9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001005742   ⟸   NM_001005742
- Peptide Label: isoform 1 precursor
- UniProtKB: P04062 (UniProtKB/Swiss-Prot),   A0A068F658 (UniProtKB/TrEMBL),   B7Z6S9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001005741   ⟸   NM_001005741
- Peptide Label: isoform 1 precursor
- UniProtKB: P04062 (UniProtKB/Swiss-Prot),   A0A068F658 (UniProtKB/TrEMBL),   B7Z6S9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000402577   ⟸   ENST00000427500
RefSeq Acc Id: ENSP00000397986   ⟸   ENST00000428024
RefSeq Acc Id: ENSP00000314508   ⟸   ENST00000327247
RefSeq Acc Id: ENSP00000357357   ⟸   ENST00000368373
Protein Domains
Glyco_hydro_30   Glyco_hydro_30C

Promoters
RGD ID:6785629
Promoter ID:HG_KWN:5367
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NR_002188,   UC001FJF.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361153,463,719 - 153,464,219 (-)MPROMDB
RGD ID:6785625
Promoter ID:HG_KWN:5373
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:NM_000157,   NM_001171812,   OTTHUMT00000087206,   OTTHUMT00000087208,   OTTHUMT00000087213
Position:
Human AssemblyChrPosition (strand)Source
Build 361153,477,666 - 153,478,327 (-)MPROMDB
RGD ID:6785627
Promoter ID:HG_KWN:5374
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_001005741,   NM_001005742,   NM_001171811,   OTTHUMT00000087214,   OTTHUMT00000087215,   OTTHUMT00000087216,   UC001FJI.1,   UC001FJJ.1,   UC009WQK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361153,480,834 - 153,481,334 (-)MPROMDB
RGD ID:6857454
Promoter ID:EPDNEW_H1892
Type:initiation region
Name:GBA_1
Description:glucosylceramidase beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1893  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,241,243 - 155,241,303EPDNEW
RGD ID:6857456
Promoter ID:EPDNEW_H1893
Type:initiation region
Name:GBA_2
Description:glucosylceramidase beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1892  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,244,627 - 155,244,687EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000157.4(GBA):c.1389-13T>A single nucleotide variant not provided [RCV000523024] Chr1:155235324 [GRCh38]
Chr1:155205115 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.1226A>C (p.Asn409Thr) single nucleotide variant Gaucher disease [RCV000020146] Chr1:155235843 [GRCh38]
Chr1:155205634 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.1505G>A (p.Arg502His) single nucleotide variant Gaucher disease [RCV000020152]|Gaucher's disease, type 1 [RCV000409564]|Gaucher's disease, type 1 [RCV001004109]|not provided [RCV000824058] Chr1:155235195 [GRCh38]
Chr1:155204986 [GRCh37]
Chr1:1q22		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000157.4(GBA):c.703T>C (p.Ser235Pro) single nucleotide variant Gaucher disease [RCV000020157]|Gaucher disease, perinatal lethal [RCV000625849]|Gaucher's disease, type 1 [RCV001004129] Chr1:155238192 [GRCh38]
Chr1:155207983 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.93_94insG (p.Gln32fs) insertion Gaucher disease [RCV000020160] Chr1:155240651..155240652 [GRCh38]
Chr1:155210442..155210443 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.3(GBA):c.1448T>C single nucleotide variant Acute neuronopathic Gaucher's disease [RCV000004509]|Dementia, Lewy body, susceptibility to [RCV000004513]|Gaucher disease [RCV000020150]|Gaucher disease, perinatal lethal [RCV001197164]|Gaucher's disease, type 1 [RCV000004511]|Gaucher's disease, type 1 [RCV001004112]|Hypomimic face [RCV000626625]|Parkinson disease, late-onset [RCV000004512]|Subacute neuronopathic Gaucher's disease [RCV000004510]|not provided [RCV000413257] Chr1:155235252 [GRCh38]
Chr1:155205043 [GRCh37]
Chr1:1q22		 pathogenic|likely pathogenic|risk factor|conflicting interpretations of pathogenicity
NM_000157.4(GBA):c.1361C>G (p.Pro454Arg) single nucleotide variant Acute neuronopathic Gaucher's disease [RCV000004514] Chr1:155235708 [GRCh38]
Chr1:155205499 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) single nucleotide variant Abnormal bleeding [RCV001270528]|Dementia, Lewy body, susceptibility to [RCV000004517]|Gaucher disease [RCV000396221]|Gaucher disease, perinatal lethal [RCV001197918]|Gaucher's disease, type 1 [RCV000004515]|Gaucher's disease, type 1 [RCV001004117]|Lewy body dementia [RCV000515439]|Parkinson disease [RCV001195689]|Parkinson disease, late-onset [RCV000004516]|Rigidity [RCV000414782]|Susceptibility to Parkinson's Disease [RCV000305321]|not provided [RCV000079336] Chr1:155235843 [GRCh38]
Chr1:155205634 [GRCh37]
Chr1:1q22		 pathogenic|likely pathogenic|risk factor|conflicting interpretations of pathogenicity|uncertain significance
NM_000157.4(GBA):c.476G>A (p.Arg159Gln) single nucleotide variant Gaucher disease [RCV000020154]|Gaucher disease, perinatal lethal [RCV000004519]|Gaucher's disease, type 1 [RCV000004518]|Gaucher's disease, type 1 [RCV001250522] Chr1:155238629 [GRCh38]
Chr1:155208420 [GRCh37]
Chr1:1q22		 pathogenic|likely pathogenic
NM_000157.4(GBA):c.1297G>T (p.Val433Leu) single nucleotide variant Gaucher disease [RCV000020148]|Gaucher's disease, type 1 [RCV000004521]|Gaucher's disease, type 1 [RCV001004115]|Lewy body dementia [RCV000762854]|Subacute neuronopathic Gaucher's disease [RCV000004520] Chr1:155235772 [GRCh38]
Chr1:155205563 [GRCh37]
Chr1:1q22		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000157.4(GBA):c.1342G>C (p.Asp448His) single nucleotide variant Acute neuronopathic Gaucher's disease [RCV000004524]|Gaucher disease [RCV000055773]|Gaucher disease type 3C [RCV000004522]|Gaucher disease, perinatal lethal [RCV000004526]|Gaucher's disease, type 1 [RCV000004523]|Gaucher's disease, type 1 [RCV001004114]|Lewy body dementia [RCV000762853]|Subacute neuronopathic Gaucher's disease [RCV000004525]|not provided [RCV000079338] Chr1:155235727 [GRCh38]
Chr1:155205518 [GRCh37]
Chr1:1q22		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000157.4(GBA):c.1343A>T (p.Asp448Val) single nucleotide variant Gaucher disease [RCV000020149]|Gaucher's disease, type 1 [RCV000411499]|Subacute neuronopathic Gaucher's disease [RCV000004527] Chr1:155235726 [GRCh38]
Chr1:155205517 [GRCh37]
Chr1:1q22		 pathogenic|likely pathogenic
NM_000157.4(GBA):c.1504C>T (p.Arg502Cys) single nucleotide variant Acute neuronopathic Gaucher's disease [RCV000004529]|Gaucher disease [RCV000020151]|Gaucher's disease, type 1 [RCV000004528]|Gaucher's disease, type 1 [RCV001004110]|Lewy body dementia [RCV000762852]|Parkinson disease, late-onset [RCV000004531]|Subacute neuronopathic Gaucher's disease [RCV000004530]|not provided [RCV000079343] Chr1:155235196 [GRCh38]
Chr1:155204987 [GRCh37]
Chr1:1q22		 pathogenic|risk factor
NM_000157.4(GBA):c.254G>A (p.Gly85Glu) single nucleotide variant Gaucher disease [RCV000781409]|Gaucher's disease, type 1 [RCV000004532] Chr1:155239939 [GRCh38]
Chr1:155209730 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.764T>A (p.Phe255Tyr) single nucleotide variant Gaucher disease [RCV001248860]|Gaucher's disease, type 1 [RCV000004537]|Gaucher's disease, type 1 [RCV001004127]|not provided [RCV000498055] Chr1:155237576 [GRCh38]
Chr1:155207367 [GRCh37]
Chr1:1q22		 pathogenic|likely pathogenic
NM_000157.4(GBA):c.586A>C (p.Lys196Gln) single nucleotide variant Gaucher's disease, type 1 [RCV000004539] Chr1:155238519 [GRCh38]
Chr1:155208310 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.754T>A (p.Phe252Ile) single nucleotide variant Acute neuronopathic Gaucher's disease [RCV000004541]|Gaucher disease [RCV000020158]|Gaucher's disease, type 1 [RCV000004542]|Subacute neuronopathic Gaucher's disease [RCV000004540]|not provided [RCV000790654] Chr1:155238141 [GRCh38]
Chr1:155207932 [GRCh37]
Chr1:1q22		 pathogenic
NM_001005741.2(GBA):c.84dupG (p.Leu29Alafs*18) duplication Gaucher disease [RCV000587723]|Gaucher's disease, type 1 [RCV000004543]|Gaucher's disease, type 1 [RCV001004138]|not provided [RCV000790704] Chr1:155240660..155240661 [GRCh38]
Chr1:155210451..155210452 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.1309G>T (p.Val437Phe) single nucleotide variant Gaucher disease, perinatal lethal [RCV000004544] Chr1:155235760 [GRCh38]
Chr1:155205551 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.3(GBA):c.27+1G>A single nucleotide variant Gaucher's disease, type 1 [RCV000004545]|Acute neuronopathic Gaucher's disease [RCV000004546]|Gaucher disease [RCV000032094] Chr1:155241085 [GRCh38]
Chr1:155210876 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.983C>T (p.Pro328Leu) single nucleotide variant Gaucher's disease, type 1 [RCV000004547] Chr1:155237357 [GRCh38]
Chr1:155207148 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.1085C>T (p.Thr362Ile) single nucleotide variant Acute neuronopathic Gaucher's disease [RCV000041967]|Gaucher disease [RCV001193934]|Gaucher's disease, type 1 [RCV000004548] Chr1:155236384 [GRCh38]
Chr1:155206175 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.481C>T (p.Pro161Ser) single nucleotide variant Gaucher's disease, type 1 [RCV000004550] Chr1:155238624 [GRCh38]
Chr1:155208415 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.751T>C (p.Tyr251His) single nucleotide variant Gaucher disease [RCV001248859]|Gaucher's disease, type 1 [RCV000004551] Chr1:155238144 [GRCh38]
Chr1:155207935 [GRCh37]
Chr1:1q22		 pathogenic|uncertain significance
NM_000157.4(GBA):c.1549G>A (p.Gly517Ser) single nucleotide variant Gaucher's disease, type 1 [RCV000004552]|not provided [RCV001171764] Chr1:155235057 [GRCh38]
Chr1:155204848 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.1604G>A (p.Arg535His) single nucleotide variant Gaucher disease [RCV000020153]|Gaucher's disease, type 1 [RCV000004553]|Gaucher's disease, type 1 [RCV001004108]|Lewy body dementia [RCV000762851]|not provided [RCV000790684] Chr1:155235002 [GRCh38]
Chr1:155204793 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.3(GBA):c.1263_1317del55 (p.Leu422Profs) deletion Gaucher's disease, type 1 [RCV000004554]|Gaucher disease, perinatal lethal [RCV000004555]|Gaucher disease [RCV000020147] Chr1:155235752..155235806 [GRCh38]
Chr1:155205543..155205597 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.160G>T (p.Val54Leu) single nucleotide variant Gaucher's disease, type 1 [RCV000004556] Chr1:155240033 [GRCh38]
Chr1:155209824 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.680A>G (p.Asn227Ser) single nucleotide variant Gaucher disease [RCV000020156]|Gaucher's disease, type 1 [RCV000004557]|Gaucher's disease, type 1 [RCV001004131]|Subacute neuronopathic Gaucher's disease [RCV000004558]|not provided [RCV000723402] Chr1:155238215 [GRCh38]
Chr1:155208006 [GRCh37]
Chr1:1q22		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000157.4(GBA):c.763T>G (p.Phe255Val) single nucleotide variant Gaucher's disease, type 1 [RCV000004559] Chr1:155237577 [GRCh38]
Chr1:155207368 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.1043C>T (p.Ala348Val) single nucleotide variant Gaucher's disease, type 1 [RCV000004560] Chr1:155236426 [GRCh38]
Chr1:155206217 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.1053G>T (p.Trp351Cys) single nucleotide variant Gaucher's disease, type 1 [RCV000004561] Chr1:155236416 [GRCh38]
Chr1:155206207 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.1090G>A (p.Gly364Arg) single nucleotide variant Acute neuronopathic Gaucher's disease [RCV000004562]|Gaucher disease [RCV001248922]|Gaucher disease, perinatal lethal [RCV001197976]|not provided [RCV000180535] Chr1:155236379 [GRCh38]
Chr1:155206170 [GRCh37]
Chr1:1q22		 pathogenic|likely pathogenic|uncertain significance
NM_000157.4(GBA):c.1141T>G (p.Cys381Gly) single nucleotide variant Acute neuronopathic Gaucher's disease [RCV000004563] Chr1:155236328 [GRCh38]
Chr1:155206119 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.1208G>C (p.Ser403Thr) single nucleotide variant Gaucher's disease, type 1 [RCV000004564] Chr1:155236261 [GRCh38]
Chr1:155206052 [GRCh37]
Chr1:1q22		 pathogenic|likely pathogenic
NM_000157.4(GBA):c.1174C>G (p.Arg392Gly) single nucleotide variant Subacute neuronopathic Gaucher's disease [RCV000004567] Chr1:155236295 [GRCh38]
Chr1:155206086 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.1319C>T (p.Pro440Leu) single nucleotide variant Gaucher's disease, type 1 [RCV000004568] Chr1:155235750 [GRCh38]
Chr1:155205541 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.1049A>G (p.His350Arg) single nucleotide variant Gaucher disease, perinatal lethal [RCV000004569] Chr1:155236420 [GRCh38]
Chr1:155206211 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.1192C>T (p.Arg398Ter) single nucleotide variant Gaucher disease [RCV000780288]|Gaucher disease, perinatal lethal [RCV000004570]|Gaucher's disease, type 1 [RCV001249081]|not provided [RCV000585360] Chr1:155236277 [GRCh38]
Chr1:155206068 [GRCh37]
Chr1:1q22		 pathogenic|likely pathogenic
NM_000157.4(GBA):c.1246G>A (p.Gly416Ser) single nucleotide variant Abnormal bleeding [RCV001270486]|Gaucher disease [RCV000055772]|Gaucher's disease, type 1 [RCV000004571]|Gaucher's disease, type 1 [RCV001004116]|Subacute neuronopathic Gaucher's disease [RCV000004572]|not provided [RCV000723428] Chr1:155235823 [GRCh38]
Chr1:155205614 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.887G>A (p.Arg296Gln) single nucleotide variant Gaucher disease [RCV000020159]|Gaucher disease, perinatal lethal [RCV000004573]|Gaucher's disease, type 1 [RCV001004125]|Lewy body dementia [RCV000762855]|not provided [RCV000079357] Chr1:155237453 [GRCh38]
Chr1:155207244 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.509G>T (p.Arg170Leu) single nucleotide variant Gaucher disease [RCV000020155]|Gaucher disease, perinatal lethal [RCV000004574] Chr1:155238596 [GRCh38]
Chr1:155208387 [GRCh37]
Chr1:1q22		 pathogenic|likely pathogenic
NM_000157.4(GBA):c.354G>C (p.Lys118Asn) single nucleotide variant Gaucher's disease, type 1 [RCV000004575]|Subacute neuronopathic Gaucher's disease [RCV000004576]|not provided [RCV000790694] Chr1:155239716 [GRCh38]
Chr1:155209507 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.870C>A (p.Phe290Leu) single nucleotide variant Gaucher disease, perinatal lethal [RCV000004577] Chr1:155237470 [GRCh38]
Chr1:155207261 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.1228C>G (p.Leu410Val) single nucleotide variant Gaucher's disease, type 1 [RCV000004578] Chr1:155235841 [GRCh38]
Chr1:155205632 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.1506-1G>A single nucleotide variant Gaucher disease, perinatal lethal [RCV000004579] Chr1:155235101 [GRCh38]
Chr1:155204892 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.1444G>A (p.Asp482Asn) single nucleotide variant Parkinson disease, late-onset [RCV000004582]|not specified [RCV001174737] Chr1:155235256 [GRCh38]
Chr1:155205047 [GRCh37]
Chr1:1q22		 risk factor|likely benign
NM_000157.4(GBA):c.599T>A (p.Ile200Asn) single nucleotide variant not provided [RCV000727938] Chr1:155238296 [GRCh38]
Chr1:155208087 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.669G>T (p.Trp223Cys) single nucleotide variant not provided [RCV000728161] Chr1:155238226 [GRCh38]
Chr1:155208017 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.473T>C (p.Ile158Thr) single nucleotide variant not provided [RCV000728442] Chr1:155238632 [GRCh38]
Chr1:155208423 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.902G>A (p.Arg301His) single nucleotide variant not provided [RCV000727688] Chr1:155237438 [GRCh38]
Chr1:155207229 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.73del (p.Leu25fs) deletion Gaucher's disease, type 1 [RCV000004549] Chr1:155240672 [GRCh38]
Chr1:155210463 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.259C>T (p.Arg87Trp) single nucleotide variant Gaucher disease [RCV000589792]|Gaucher's disease, type 1 [RCV000004565] Chr1:155239934 [GRCh38]
Chr1:155209725 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.533del (p.Pro178fs) deletion Gaucher disease, perinatal lethal [RCV000004566] Chr1:155238572 [GRCh38]
Chr1:155208363 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.475C>T (p.Arg159Trp) single nucleotide variant Gaucher disease [RCV000055774]|not provided [RCV000179355] Chr1:155238630 [GRCh38]
Chr1:155208421 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.1389-33del deletion Gaucher disease, perinatal lethal [RCV001196896] Chr1:155235344 [GRCh38]
Chr1:155205135 [GRCh37]
Chr1:1q22		 uncertain significance
GRCh38/hg38 1q22(chr1:155182457-155787428)x3 copy number gain See cases [RCV000051164] Chr1:155182457..155787428 [GRCh38]
Chr1:155154933..155757219 [GRCh37]
Chr1:153421557..154023843 [NCBI36]
Chr1:1q22		 uncertain significance
GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1 copy number loss See cases [RCV000053912] Chr1:154575689..155292901 [GRCh38]
Chr1:154548165..155262692 [GRCh37]
Chr1:152814789..153529316 [NCBI36]
Chr1:1q21.3-22		 pathogenic
NM_001005741.2(GBA):c.1512T>C (p.Ser504=) single nucleotide variant Malignant melanoma [RCV000059910] Chr1:155235094 [GRCh38]
Chr1:155204885 [GRCh37]
Chr1:153471509 [NCBI36]
Chr1:1q22		 not provided
NM_000157.4(GBA):c.1060G>C (p.Asp354His) single nucleotide variant Gaucher disease [RCV001248921]|not provided [RCV000180536]|not specified [RCV000781410] Chr1:155236409 [GRCh38]
Chr1:155206200 [GRCh37]
Chr1:1q22		 pathogenic|uncertain significance
NM_000157.4(GBA):c.115+1G>A single nucleotide variant Acute neuronopathic Gaucher's disease [RCV000004546]|Gaucher disease [RCV000032094]|Gaucher's disease, type 1 [RCV000177098]|Gaucher's disease, type 1 [RCV001004137]|Lewy body dementia [RCV000762856]|Parkinson disease, late-onset [RCV001253701]|not provided [RCV000790724] Chr1:155240629 [GRCh38]
Chr1:155210420 [GRCh37]
Chr1:1q22		 pathogenic|likely pathogenic
NM_000157.4(GBA):c.1171G>C (p.Val391Leu) single nucleotide variant Gaucher disease [RCV000781412]|Gaucher's disease, type 1 [RCV001004119]|not provided [RCV000180534] Chr1:155236298 [GRCh38]
Chr1:155206089 [GRCh37]
Chr1:1q22		 pathogenic|likely pathogenic
NM_000157.4(GBA):c.1223C>T (p.Thr408Met) single nucleotide variant Gaucher disease [RCV001249086]|Gaucher disease, perinatal lethal [RCV001196545]|Parkinson disease, late-onset [RCV000416597]|not provided [RCV000079335]|not specified [RCV000244995] Chr1:155236246 [GRCh38]
Chr1:155206037 [GRCh37]
Chr1:1q22		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000157.4(GBA):c.1240G>T (p.Val414Leu) single nucleotide variant Gaucher disease [RCV001174722]|Gaucher's disease, type 1 [RCV001249087]|not provided [RCV000173717] Chr1:155235829 [GRCh38]
Chr1:155205620 [GRCh37]
Chr1:1q22		 pathogenic|likely pathogenic
NM_000157.4(GBA):c.1448T>G (p.Leu483Arg) single nucleotide variant Acute neuronopathic Gaucher's disease [RCV000663363]|Gaucher disease [RCV000781411]|Gaucher's disease, type 1 [RCV001004111]|Gaucher's disease, type 1 [RCV001248963]|not provided [RCV000414719] Chr1:155235252 [GRCh38]
Chr1:155205043 [GRCh37]
Chr1:1q22		 pathogenic|likely pathogenic
NM_000157.4(GBA):c.1483G>C (p.Ala495Pro) single nucleotide variant not specified [RCV000079341] Chr1:155235217 [GRCh38]
Chr1:155205008 [GRCh37]
Chr1:1q22		 benign
NM_000157.4(GBA):c.1497G>C (p.Val499=) single nucleotide variant not specified [RCV000079342] Chr1:155235203 [GRCh38]
Chr1:155204994 [GRCh37]
Chr1:1q22		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000157.4(GBA):c.487del (p.Ala163fs) deletion not provided [RCV000179354] Chr1:155238618 [GRCh38]
Chr1:155208409 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.508C>T (p.Arg170Cys) single nucleotide variant Gaucher disease [RCV001249029]|Gaucher's disease, type 1 [RCV001004135]|not provided [RCV000179353] Chr1:155238597 [GRCh38]
Chr1:155208388 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.605G>A (p.Arg202Gln) single nucleotide variant not specified [RCV000079348] Chr1:155238290 [GRCh38]
Chr1:155208081 [GRCh37]
Chr1:1q22		 benign
NM_000157.4(GBA):c.625C>T (p.Arg209Cys) single nucleotide variant Gaucher disease [RCV000780284]|Gaucher's disease, type 1 [RCV001004133]|not provided [RCV000179793] Chr1:155238270 [GRCh38]
Chr1:155208061 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.634T>A (p.Ser212Thr) single nucleotide variant not provided [RCV000079350] Chr1:155238261 [GRCh38]
Chr1:155208052 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.667T>C (p.Trp223Arg) single nucleotide variant Gaucher disease [RCV000588402]|Gaucher's disease, type 1 [RCV000243066]|not provided [RCV000079351] Chr1:155238228 [GRCh38]
Chr1:155208019 [GRCh37]
Chr1:1q22		 pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity
NM_000157.4(GBA):c.681T>G (p.Asn227Lys) single nucleotide variant Gaucher disease [RCV001249030]|Gaucher's disease, type 1 [RCV001004130]|not provided [RCV000079353] Chr1:155238214 [GRCh38]
Chr1:155208005 [GRCh37]
Chr1:1q22		 pathogenic|likely pathogenic|uncertain significance
NM_000157.4(GBA):c.721G>A (p.Gly241Arg) single nucleotide variant Gaucher disease [RCV000589250]|Gaucher's disease, type 1 [RCV001004128]|not provided [RCV000675275] Chr1:155238174 [GRCh38]
Chr1:155207965 [GRCh37]
Chr1:1q22		 pathogenic|uncertain significance
NM_000157.4(GBA):c.988T>G (p.Trp330Gly) single nucleotide variant not provided [RCV000079358] Chr1:155237352 [GRCh38]
Chr1:155207143 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.1388+2T>C single nucleotide variant Gaucher's disease, type 1 [RCV001004113] Chr1:155235679 [GRCh38]
Chr1:155205470 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.1265_1319del (p.Leu422fs) deletion Gaucher disease [RCV000020147]|Gaucher disease, perinatal lethal [RCV000004555]|Gaucher's disease, type 1 [RCV000173718]|not provided [RCV000723462] Chr1:155235750..155235804 [GRCh38]
Chr1:155205541..155205595 [GRCh37]
Chr1:1q22		 pathogenic
Single allele duplication Gaucher's disease, type 1 [RCV000177097] Chr1:155210451..155210452 [GRCh37] pathogenic
NM_000157.4(GBA):c.38A>G (p.Lys13Arg) single nucleotide variant not provided [RCV000427488]|not specified [RCV000177099] Chr1:155240707 [GRCh38]
Chr1:155210498 [GRCh37]
Chr1:1q22		 benign
NM_000157.4(GBA):c.26_27del (p.Glu9fs) microsatellite Abnormal bleeding [RCV001270491] Chr1:155241086..155241087 [GRCh38]
Chr1:155210877..155210878 [GRCh37]
Chr1:1q22		 likely pathogenic
NM_000157.4(GBA):c.1093G>A (p.Glu365Lys) single nucleotide variant Gaucher disease [RCV001248923]|Parkinsonism [RCV000414984]|Parkinsonism [RCV000415149]|Parkinsonism [RCV000415387]|not provided [RCV000487503]|not specified [RCV000252989] Chr1:155236376 [GRCh38]
Chr1:155206167 [GRCh37]
Chr1:1q22		 likely pathogenic|risk factor|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000157.4(GBA):c.762-18T>A single nucleotide variant not provided [RCV000590360]|not specified [RCV000180195] Chr1:155237596 [GRCh38]
Chr1:155207387 [GRCh37]
Chr1:1q22		 benign
NM_000157.4(GBA):c.896T>C (p.Ile299Thr) single nucleotide variant Gaucher disease [RCV001248862]|not provided [RCV000180196] Chr1:155237444 [GRCh38]
Chr1:155207235 [GRCh37]
Chr1:1q22		 likely pathogenic
NM_000157.4(GBA):c.431T>G (p.Leu144Arg) single nucleotide variant Gaucher disease [RCV001249026]|not provided [RCV000178813] Chr1:155239639 [GRCh38]
Chr1:155209430 [GRCh37]
Chr1:1q22		 likely pathogenic|uncertain significance
NM_000157.4(GBA):c.1431C>G (p.Ala477=) single nucleotide variant not provided [RCV000174028] Chr1:155235269 [GRCh38]
Chr1:155205060 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.1505+10A>T single nucleotide variant not provided [RCV000174029] Chr1:155235185 [GRCh38]
Chr1:155204976 [GRCh37]
Chr1:1q22		 uncertain significance
GRCh38/hg38 1q21.3-22(chr1:155006546-155464263)x3 copy number gain See cases [RCV000140157] Chr1:155006546..155464263 [GRCh38]
Chr1:154979022..155434054 [GRCh37]
Chr1:153245646..153700678 [NCBI36]
Chr1:1q21.3-22		 uncertain significance
GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3 copy number gain See cases [RCV000139902] Chr1:154566501..157624084 [GRCh38]
Chr1:154538977..157593874 [GRCh37]
Chr1:152805601..155860498 [NCBI36]
Chr1:1q21.3-23.1		 pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2		 pathogenic
NM_000157.4(GBA):c.680_681delinsGG (p.Asn227Arg) indel not provided [RCV000179796] Chr1:155238214..155238215 [GRCh38]
Chr1:155208005..155208006 [GRCh37]
Chr1:1q22		 likely pathogenic
NM_000157.4(GBA):c.437C>T (p.Ser146Leu) single nucleotide variant Gaucher disease [RCV001249027]|not provided [RCV000178814] Chr1:155239633 [GRCh38]
Chr1:155209424 [GRCh37]
Chr1:1q22		 pathogenic|uncertain significance
NM_000157.4(GBA):c.485T>C (p.Met162Thr) single nucleotide variant not provided [RCV000179352] Chr1:155238620 [GRCh38]
Chr1:155208411 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.1030G>A (p.Val344Ile) single nucleotide variant not provided [RCV000180539] Chr1:155236439 [GRCh38]
Chr1:155206230 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.474C>T (p.Ile158=) single nucleotide variant Gaucher disease [RCV000210895] Chr1:155238631 [GRCh38]
Chr1:155208422 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.1177C>G (p.Leu393Val) single nucleotide variant Gaucher's disease, type 1 [RCV000225396] Chr1:155236292 [GRCh38]
Chr1:155206083 [GRCh37]
Chr1:1q22		 likely pathogenic
NM_000157.4(GBA):c.866G>C (p.Gly289Ala) single nucleotide variant Gaucher's disease, type 1 [RCV000225413] Chr1:155237474 [GRCh38]
Chr1:155207265 [GRCh37]
Chr1:1q22		 likely pathogenic
NM_000157.4(GBA):c.415G>C (p.Ala139Pro) single nucleotide variant Gaucher's disease, type 1 [RCV000225581] Chr1:155239655 [GRCh38]
Chr1:155209446 [GRCh37]
Chr1:1q22		 likely pathogenic
NM_000157.4(GBA):c.1397T>G (p.Ile466Ser) single nucleotide variant Gaucher's disease, type 1 [RCV000225638] Chr1:155235303 [GRCh38]
Chr1:155205094 [GRCh37]
Chr1:1q22		 likely pathogenic
NM_000157.4(GBA):c.1459G>A (p.Ala487Thr) single nucleotide variant Gaucher's disease, type 1 [RCV000225643] Chr1:155235241 [GRCh38]
Chr1:155205032 [GRCh37]
Chr1:1q22		 likely pathogenic
NM_000157.4(GBA):c.521A>G (p.Tyr174Cys) single nucleotide variant Gaucher disease [RCV001249028]|not provided [RCV000321615] Chr1:155238584 [GRCh38]
Chr1:155208375 [GRCh37]
Chr1:1q22		 likely pathogenic|uncertain significance
NM_000157.4(GBA):c.1225-34C>A single nucleotide variant Gaucher disease [RCV001276017]|not provided [RCV000587144]|not specified [RCV000249932] Chr1:155235878 [GRCh38]
Chr1:155205669 [GRCh37]
Chr1:1q22		 benign
NM_000157.4(GBA):c.454+47G>A single nucleotide variant not specified [RCV000251043] Chr1:155239569 [GRCh38]
Chr1:155209360 [GRCh37]
Chr1:1q22		 benign
NM_000157.4(GBA):c.761+46A>G single nucleotide variant not specified [RCV000252179] Chr1:155238088 [GRCh38]
Chr1:155207879 [GRCh37]
Chr1:1q22		 likely benign
NM_000157.4(GBA):c.1473C>T (p.Pro491=) single nucleotide variant not specified [RCV000241921] Chr1:155235227 [GRCh38]
Chr1:155205018 [GRCh37]
Chr1:1q22		 likely benign
NM_000157.4(GBA):c.761+42A>C single nucleotide variant not specified [RCV000248036] Chr1:155238092 [GRCh38]
Chr1:155207883 [GRCh37]
Chr1:1q22		 likely benign
NM_000157.4(GBA):c.637C>T (p.Leu213Phe) single nucleotide variant Gaucher's disease, type 1 [RCV001004132]|not provided [RCV000275601] Chr1:155238258 [GRCh38]
Chr1:155208049 [GRCh37]
Chr1:1q22		 likely pathogenic|uncertain significance
NM_000157.4(GBA):c.58A>G (p.Ile20Val) single nucleotide variant not specified [RCV000315206] Chr1:155240687 [GRCh38]
Chr1:155210478 [GRCh37]
Chr1:1q22		 likely benign
NM_000157.4(GBA):c.580A>T (p.Lys194Ter) single nucleotide variant not provided [RCV000388687] Chr1:155238525 [GRCh38]
Chr1:155208316 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.1506-7T>C single nucleotide variant not provided [RCV000293789] Chr1:155235107 [GRCh38]
Chr1:155204898 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.203dup (p.Thr69fs) duplication Gaucher disease [RCV001269264] Chr1:155239989..155239990 [GRCh38]
Chr1:155209780..155209781 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.175G>A (p.Ala59Thr) single nucleotide variant Gaucher disease [RCV001279616] Chr1:155240018 [GRCh38]
Chr1:155209809 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.167T>A (p.Val56Asp) single nucleotide variant Gaucher disease [RCV001279992] Chr1:155240026 [GRCh38]
Chr1:155209817 [GRCh37]
Chr1:1q22		 uncertain significance
GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3 copy number gain not provided [RCV000585385] Chr1:153751465..156660462 [GRCh37]
Chr1:1q21.3-23.1		 likely pathogenic
NM_000157.4(GBA):c.535G>C (p.Asp179His) single nucleotide variant Gaucher disease [RCV000586576]|not provided [RCV000487788] Chr1:155238570 [GRCh38]
Chr1:155208361 [GRCh37]
Chr1:1q22		 likely pathogenic|uncertain significance
NM_000157.4(GBA):c.1548G>C (p.Val516=) single nucleotide variant Gaucher disease [RCV001279613] Chr1:155235058 [GRCh38]
Chr1:155204849 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.1052G>C (p.Trp351Ser) single nucleotide variant Gaucher disease [RCV000587644] Chr1:155236417 [GRCh38]
Chr1:155206208 [GRCh37]
Chr1:1q22		 likely pathogenic
NM_000157.4(GBA):c.1348T>A (p.Phe450Ile) single nucleotide variant not provided [RCV000592466] Chr1:155235721 [GRCh38]
Chr1:155205512 [GRCh37]
Chr1:1q22		 pathogenic
Single allele inversion Pediatric metastatic thyroid tumour [RCV000585807] Chr1:154130985..156843877 [GRCh37]
Chr1:1q21.3-23.1		 likely pathogenic
NM_000157.4(GBA):c.1447C>T (p.Leu483=) single nucleotide variant Gaucher disease [RCV001272796]|not specified [RCV000588141] Chr1:155235253 [GRCh38]
Chr1:155205044 [GRCh37]
Chr1:1q22		 likely benign|uncertain significance
NM_000157.4(GBA):c.589-86A>G single nucleotide variant Gaucher disease [RCV001272630]|not provided [RCV000588885] Chr1:155238392 [GRCh38]
Chr1:155208183 [GRCh37]
Chr1:1q22		 benign
NM_000157.4(GBA):c.1224G>A (p.Thr408=) single nucleotide variant Gaucher's disease, type 1 [RCV000986425]|not provided [RCV000599326] Chr1:155236245 [GRCh38]
Chr1:155206036 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.882T>G (p.His294Gln) single nucleotide variant Gaucher disease [RCV001248861]|Gaucher disease, perinatal lethal [RCV001195955]|Gaucher's disease, type 1 [RCV001004126]|not provided [RCV000589369] Chr1:155237458 [GRCh38]
Chr1:155207249 [GRCh37]
Chr1:1q22		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000157.4(GBA):c.1312G>A (p.Asp438Asn) single nucleotide variant Gaucher disease [RCV000589122]|not provided [RCV001212081] Chr1:155235757 [GRCh38]
Chr1:155205548 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.1227C>A (p.Asn409Lys) single nucleotide variant not provided [RCV000730290] Chr1:155235842 [GRCh38]
Chr1:155205633 [GRCh37]
Chr1:1q22		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000157.4(GBA):c.928A>G (p.Ser310Gly) single nucleotide variant not provided [RCV000733225] Chr1:155237412 [GRCh38]
Chr1:155207203 [GRCh37]
Chr1:1q22		 pathogenic|likely pathogenic
NM_000157.4(GBA):c.835C>G (p.Leu279Val) single nucleotide variant Subacute neuronopathic Gaucher's disease [RCV000416353] Chr1:155237505 [GRCh38]
Chr1:155207296 [GRCh37]
Chr1:1q22		 pathogenic|uncertain significance
NM_000157.4(GBA):c.1506-10_1506-9delinsGA indel not provided [RCV000732594] Chr1:155235109..155235110 [GRCh38]
Chr1:155204900..155204901 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.1307T>C (p.Phe436Ser) single nucleotide variant not provided [RCV000727557] Chr1:155235762 [GRCh38]
Chr1:155205553 [GRCh37]
Chr1:1q22		 uncertain significance
GRCh37/hg19 1q22(chr1:155181714-155207954)x3 copy number gain See cases [RCV000447576] Chr1:155181714..155207954 [GRCh37]
Chr1:1q22		 benign|likely benign
NM_000157.3(GBA):c.1603C>T single nucleotide variant Gaucher disease [RCV001175549]|Gaucher's disease, type 1 [RCV000417294] Chr1:155235003 [GRCh38]
Chr1:155204794 [GRCh37]
Chr1:1q22		 pathogenic|likely pathogenic
NM_000157.4(GBA):c.860G>T (p.Cys287Phe) single nucleotide variant not provided [RCV000443344] Chr1:155237480 [GRCh38]
Chr1:155207271 [GRCh37]
Chr1:1q22		 likely pathogenic
NM_000157.4(GBA):c.221G>C (p.Gly74Ala) single nucleotide variant Parkinson disease, late-onset [RCV000416569] Chr1:155239972 [GRCh38]
Chr1:155209763 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.1277C>T (p.Pro426Leu) single nucleotide variant Parkinson disease, late-onset [RCV000416572] Chr1:155235792 [GRCh38]
Chr1:155205583 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.1440G>C (p.Lys480Asn) single nucleotide variant Parkinson disease, late-onset [RCV000416583] Chr1:155235260 [GRCh38]
Chr1:155205051 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.1220T>C (p.Ile407Thr) single nucleotide variant Parkinson disease, late-onset [RCV000416604] Chr1:155236249 [GRCh38]
Chr1:155206040 [GRCh37]
Chr1:1q22		 uncertain significance
GRCh37/hg19 1q22(chr1:155184360-155207954)x3 copy number gain See cases [RCV000447744] Chr1:155184360..155207954 [GRCh37]
Chr1:1q22		 benign
NM_000157.4(GBA):c.1102C>T (p.Arg368Cys) single nucleotide variant Gaucher disease [RCV001249080]|Gaucher's disease, type 1 [RCV001004120]|not provided [RCV000487271] Chr1:155236367 [GRCh38]
Chr1:155206158 [GRCh37]
Chr1:1q22		 likely pathogenic|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_000157.4(GBA):c.630del (p.Val211fs) deletion Gaucher disease [RCV000590527] Chr1:155238265 [GRCh38]
Chr1:155208056 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.1279G>T (p.Glu427Ter) single nucleotide variant Gaucher disease [RCV000607009] Chr1:155235790 [GRCh38]
Chr1:155205581 [GRCh37]
Chr1:1q22		 likely pathogenic
NM_000157.4(GBA):c.921C>T (p.Leu307=) single nucleotide variant not provided [RCV000584885] Chr1:155237419 [GRCh38]
Chr1:155207210 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.134C>T (p.Pro45Leu) single nucleotide variant not provided [RCV000585213] Chr1:155240059 [GRCh38]
Chr1:155209850 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.1296G>A (p.Trp432Ter) single nucleotide variant Gaucher disease [RCV001249088]|not provided [RCV000585394] Chr1:155235773 [GRCh38]
Chr1:155205564 [GRCh37]
Chr1:1q22		 likely pathogenic|uncertain significance
NM_000157.4(GBA):c.526G>A (p.Asp176Asn) single nucleotide variant Gaucher's disease, type 1 [RCV000515467] Chr1:155238579 [GRCh38]
Chr1:155208370 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.1029del (p.Lys342_Tyr343insTer) deletion Gaucher disease [RCV000590277] Chr1:155236440 [GRCh38]
Chr1:155206231 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.1279G>A (p.Glu427Lys) single nucleotide variant Parkinsonism [RCV000626624]|not provided [RCV000584914] Chr1:155235790 [GRCh38]
Chr1:155205581 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.104C>T (p.Ser35Leu) single nucleotide variant Gaucher disease [RCV001248920]|Gaucher's disease, type 1 [RCV000625801] Chr1:155240641 [GRCh38]
Chr1:155210432 [GRCh37]
Chr1:1q22		 likely pathogenic|uncertain significance
NM_001005741.3(GBA):c.-68-135A>G single nucleotide variant not provided [RCV000675277] Chr1:155241315 [GRCh38]
Chr1:155211106 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.886C>T (p.Arg296Ter) single nucleotide variant Gaucher disease [RCV001193933]|not provided [RCV000675274] Chr1:155237454 [GRCh38]
Chr1:155207245 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.701G>A (p.Gly234Glu) single nucleotide variant not provided [RCV000675276] Chr1:155238194 [GRCh38]
Chr1:155207985 [GRCh37]
Chr1:1q22		 pathogenic|likely pathogenic
NM_000157.4(GBA):c.1294T>A (p.Trp432Arg) single nucleotide variant Parkinson disease, late-onset [RCV000735863] Chr1:155235775 [GRCh38]
Chr1:155205566 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.946C>T (p.Arg316Cys) single nucleotide variant Gaucher's disease, type 1 [RCV001004122] Chr1:155237394 [GRCh38]
Chr1:155207185 [GRCh37]
Chr1:1q22		 likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q22(chr1:155184704-155205022)x3 copy number gain not provided [RCV000749197] Chr1:155184704..155205022 [GRCh37]
Chr1:1q22		 benign
GRCh37/hg19 1q22(chr1:155189880-155204793)x3 copy number gain not provided [RCV000749199] Chr1:155189880..155204793 [GRCh37]
Chr1:1q22		 benign
NM_000157.4(GBA):c.1271T>C (p.Leu424Pro) single nucleotide variant Gaucher's disease, type 1 [RCV000761282] Chr1:155235798 [GRCh38]
Chr1:155205589 [GRCh37]
Chr1:1q22		 likely pathogenic
NM_000157.4(GBA):c.1174C>T (p.Arg392Trp) single nucleotide variant Gaucher's disease, type 1 [RCV001004118] Chr1:155236295 [GRCh38]
Chr1:155206086 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.970C>T (p.Arg324Cys) single nucleotide variant Gaucher's disease, type 1 [RCV001004121] Chr1:155237370 [GRCh38]
Chr1:155207161 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.929G>A (p.Ser310Asn) single nucleotide variant Gaucher's disease, type 1 [RCV001004123] Chr1:155237411 [GRCh38]
Chr1:155207202 [GRCh37]
Chr1:1q22		 likely pathogenic
NM_000157.4(GBA):c.1250G>A (p.Trp417Ter) single nucleotide variant Gaucher disease [RCV000780283] Chr1:155235819 [GRCh38]
Chr1:155205610 [GRCh37]
Chr1:1q22		 likely pathogenic
NM_000157.4(GBA):c.497A>T (p.Asp166Val) single nucleotide variant Gaucher disease [RCV000780285] Chr1:155238608 [GRCh38]
Chr1:155208399 [GRCh37]
Chr1:1q22		 likely pathogenic
NM_000157.4(GBA):c.595_596del (p.Leu199fs) deletion Gaucher disease [RCV000780287]|not provided [RCV001091725] Chr1:155238299..155238300 [GRCh38]
Chr1:155208090..155208091 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.709A>G (p.Lys237Glu) single nucleotide variant Gaucher disease [RCV000781408] Chr1:155238186 [GRCh38]
Chr1:155207977 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.1357C>T (p.Gln453Ter) single nucleotide variant Gaucher disease [RCV000781414] Chr1:155235712 [GRCh38]
Chr1:155205503 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.653G>A (p.Trp218Ter) single nucleotide variant Abnormal bleeding [RCV001270597]|Gaucher disease [RCV000780286] Chr1:155238242 [GRCh38]
Chr1:155208033 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.762-1G>C single nucleotide variant Gaucher disease [RCV000781413]|Parkinson disease, late-onset [RCV000995774] Chr1:155237579 [GRCh38]
Chr1:155207370 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.1316G>A (p.Ser439Asn) single nucleotide variant Gaucher's disease, type 1 [RCV000856815] Chr1:155235753 [GRCh38]
Chr1:155205544 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.1347G>C (p.Thr449=) single nucleotide variant Gaucher disease [RCV001272797]|not provided [RCV000949652] Chr1:155235722 [GRCh38]
Chr1:155205513 [GRCh37]
Chr1:1q22		 likely benign
NM_000157.4(GBA):c.413del (p.Pro138fs) deletion not provided [RCV000994118] Chr1:155239657 [GRCh38]
Chr1:155209448 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.222_224del (p.Thr75del) deletion Gaucher's disease, type 1 [RCV001004136]|not provided [RCV000796019] Chr1:155239969..155239971 [GRCh38]
Chr1:155209760..155209762 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.1388G>C (p.Ser463Thr) single nucleotide variant Gaucher's disease, type 1 [RCV000986424] Chr1:155235681 [GRCh38]
Chr1:155205472 [GRCh37]
Chr1:1q22		 likely benign|uncertain significance
NM_000157.4(GBA):c.1495G>C (p.Val499Leu) single nucleotide variant Gaucher's disease, type 1 [RCV000785070] Chr1:155235205 [GRCh38]
Chr1:155204996 [GRCh37]
Chr1:1q22		 likely pathogenic
NM_000157.4(GBA):c.247C>T (p.Arg83Cys) single nucleotide variant not provided [RCV000994119] Chr1:155239946 [GRCh38]
Chr1:155209737 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.485T>A (p.Met162Lys) single nucleotide variant not provided [RCV001091726] Chr1:155238620 [GRCh38]
Chr1:155208411 [GRCh37]
Chr1:1q22		 likely pathogenic
NM_000157.4(GBA):c.999+242C>A single nucleotide variant Gaucher's disease, type 1 [RCV000999462] Chr1:155237099 [GRCh38]
Chr1:155206890 [GRCh37]
Chr1:1q22		 pathogenic
GRCh37/hg19 1q21.3-22(chr1:154898854-155242457)x3 copy number gain not provided [RCV001005143] Chr1:154898854..155242457 [GRCh37]
Chr1:1q21.3-22		 uncertain significance
NM_000157.4(GBA):c.1453G>C (p.Ala485Pro) single nucleotide variant not provided [RCV000994117] Chr1:155235247 [GRCh38]
Chr1:155205038 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.168C>T (p.Val56=) single nucleotide variant not provided [RCV000994120] Chr1:155240025 [GRCh38]
Chr1:155209816 [GRCh37]
Chr1:1q22		 likely benign
NM_000157.4(GBA):c.34C>T (p.Pro12Ser) single nucleotide variant Gaucher disease, perinatal lethal [RCV001196632] Chr1:155240711 [GRCh38]
Chr1:155210502 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.1289C>T (p.Pro430Leu) single nucleotide variant Gaucher disease, perinatal lethal [RCV001198752] Chr1:155235780 [GRCh38]
Chr1:155205571 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.122G>T (p.Arg41Leu) single nucleotide variant not provided [RCV000994121] Chr1:155240071 [GRCh38]
Chr1:155209862 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.1038C>T (p.Gly346=) single nucleotide variant not provided [RCV001200367] Chr1:155236431 [GRCh38]
Chr1:155206222 [GRCh37]
Chr1:1q22		 likely benign
NM_000157.4(GBA):c.401C>T (p.Ala134Val) single nucleotide variant not provided [RCV001200368] Chr1:155239669 [GRCh38]
Chr1:155209460 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.1503C>G (p.Asn501Lys) single nucleotide variant Acute neuronopathic Gaucher's disease [RCV000853241] Chr1:155235197 [GRCh38]
Chr1:155204988 [GRCh37]
Chr1:1q22		 likely pathogenic
NM_000157.4(GBA):c.689T>G (p.Val230Gly) single nucleotide variant not specified [RCV001193337] Chr1:155238206 [GRCh38]
Chr1:155207997 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.894C>A (p.Phe298Leu) single nucleotide variant Gaucher disease [RCV001199909] Chr1:155237446 [GRCh38]
Chr1:155207237 [GRCh37]
Chr1:1q22		 likely pathogenic
NM_000157.4(GBA):c.403_404del (p.Leu135fs) deletion Gaucher's disease, type 1 [RCV001200046] Chr1:155239666..155239667 [GRCh38]
Chr1:155209457..155209458 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.1151C>T (p.Ser384Phe) single nucleotide variant Gaucher's disease, type 1 [RCV001175137] Chr1:155236318 [GRCh38]
Chr1:155206109 [GRCh37]
Chr1:1q22		 likely pathogenic
NM_000157.4(GBA):c.1184C>T (p.Ser395Phe) single nucleotide variant Gaucher disease [RCV001175547] Chr1:155236285 [GRCh38]
Chr1:155206076 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.1092G>A (p.Gly364=) single nucleotide variant not specified [RCV001193935] Chr1:155236377 [GRCh38]
Chr1:155206168 [GRCh37]
Chr1:1q22		 likely benign
NM_000157.4(GBA):c.1495G>A (p.Val499Met) single nucleotide variant not provided [RCV000994116] Chr1:155235205 [GRCh38]
Chr1:155204996 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.1000-81A>C single nucleotide variant Gaucher disease [RCV001027941] Chr1:155236550 [GRCh38]
Chr1:155206341 [GRCh37]
Chr1:1q22		 benign
NM_000157.4(GBA):c.914del (p.Pro305fs) deletion Gaucher disease [RCV001193339] Chr1:155237426 [GRCh38]
Chr1:155207217 [GRCh37]
Chr1:1q22		 likely pathogenic
NM_000157.4(GBA):c.1515G>A (p.Lys505=) single nucleotide variant not specified [RCV001193338] Chr1:155235091 [GRCh38]
Chr1:155204882 [GRCh37]
Chr1:1q22		 likely benign
NM_000157.4(GBA):c.1077C>A (p.Ala359=) single nucleotide variant Gaucher's disease, type 1 [RCV001175134] Chr1:155236392 [GRCh38]
Chr1:155206183 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.1599G>A (p.Trp533Ter) single nucleotide variant Gaucher's disease, type 1 [RCV001175136] Chr1:155235007 [GRCh38]
Chr1:155204798 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.1259G>A (p.Trp420Ter) single nucleotide variant Gaucher disease [RCV001175548] Chr1:155235810 [GRCh38]
Chr1:155205601 [GRCh37]
Chr1:1q22		 likely pathogenic
GRCh37/hg19 1q22(chr1:155188179-155209868) copy number loss Parkinson disease, late-onset [RCV001004082] Chr1:155188179..155209868 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.509G>A (p.Arg170His) single nucleotide variant Gaucher's disease, type 1 [RCV001004134] Chr1:155238596 [GRCh38]
Chr1:155208387 [GRCh37]
Chr1:1q22		 likely pathogenic
NM_000157.4(GBA):c.713G>C (p.Gly238Ala) single nucleotide variant not provided [RCV001171765] Chr1:155238182 [GRCh38]
Chr1:155207973 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.1214G>C (p.Ser405Thr) single nucleotide variant Gaucher's disease, type 1 [RCV001200045] Chr1:155236255 [GRCh38]
Chr1:155206046 [GRCh37]
Chr1:1q22		 likely pathogenic
NM_000157.4(GBA):c.913C>G (p.Pro305Ala) single nucleotide variant Gaucher's disease, type 1 [RCV001004124] Chr1:155237427 [GRCh38]
Chr1:155207218 [GRCh37]
Chr1:1q22		 likely pathogenic
NM_000157.4(GBA):c.557del (p.Phe186fs) deletion Gaucher's disease, type 1 [RCV001078139] Chr1:155238548 [GRCh38]
Chr1:155208339 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.661C>A (p.Pro221Thr) single nucleotide variant Gaucher disease [RCV001199857] Chr1:155238234 [GRCh38]
Chr1:155208025 [GRCh37]
Chr1:1q22		 likely pathogenic
NM_000157.4(GBA):c.1238A>C (p.His413Pro) single nucleotide variant Gaucher's disease, type 1 [RCV001200044] Chr1:155235831 [GRCh38]
Chr1:155205622 [GRCh37]
Chr1:1q22		 likely pathogenic
NM_000157.4(GBA):c.706C>T (p.Leu236Phe) single nucleotide variant not specified [RCV001193937] Chr1:155238189 [GRCh38]
Chr1:155207980 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.941A>G (p.Asn314Ser) single nucleotide variant not specified [RCV001255470] Chr1:155237399 [GRCh38]
Chr1:155207190 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.1534A>T (p.Lys512Ter) single nucleotide variant Inborn genetic diseases [RCV001266631]|not specified [RCV001251331] Chr1:155235072 [GRCh38]
Chr1:155204863 [GRCh37]
Chr1:1q22		 likely pathogenic|uncertain significance
NM_000157.4(GBA):c.108G>A (p.Trp36Ter) single nucleotide variant Gaucher disease [RCV001251352] Chr1:155240637 [GRCh38]
Chr1:155210428 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.334C>T (p.Gln112Ter) single nucleotide variant Gaucher disease [RCV001264492] Chr1:155239736 [GRCh38]
Chr1:155209527 [GRCh37]
Chr1:1q22		 pathogenic
NM_000157.4(GBA):c.730T>C (p.Tyr244His) single nucleotide variant Gaucher disease [RCV001279614] Chr1:155238165 [GRCh38]
Chr1:155207956 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.455-7T>C single nucleotide variant Gaucher disease [RCV001279615] Chr1:155238657 [GRCh38]
Chr1:155208448 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.1566C>T (p.Ile522=) single nucleotide variant Gaucher disease [RCV001279612] Chr1:155235040 [GRCh38]
Chr1:155204831 [GRCh37]
Chr1:1q22		 uncertain significance
NM_000157.4(GBA):c.171C>T (p.Cys57=) single nucleotide variant Gaucher disease [RCV001279617] Chr1:155240022 [GRCh38]
Chr1:155209813 [GRCh37]
Chr1:1q22		 uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4177 AgrOrtholog
COSMIC GBA COSMIC
Ensembl Genes ENSG00000177628 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000262446 UniProtKB/TrEMBL
Ensembl Protein ENSP00000314508 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000357357 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000397986 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000402577 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000458274 UniProtKB/TrEMBL
  ENSP00000459642 UniProtKB/TrEMBL
  ENSP00000482397 UniProtKB/TrEMBL
  ENSP00000482419 UniProtKB/TrEMBL
Ensembl Transcript ENST00000327247 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000368373 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000427500 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000428024 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000572338 UniProtKB/TrEMBL
  ENST00000574670 UniProtKB/TrEMBL
  ENST00000613861 UniProtKB/TrEMBL
  ENST00000618489 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.1180 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000177628 GTEx
  ENSG00000262446 GTEx
HGNC ID HGNC:4177 ENTREZGENE
Human Proteome Map GBA Human Proteome Map
InterPro GH30_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hydro_30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hydro_30_TIM-barrel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hydro_b UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glycoside_hydrolase_SF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2629 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2629 ENTREZGENE
OMIM 127750 OMIM
  168600 OMIM
  230800 OMIM
  230900 OMIM
  231000 OMIM
  231005 OMIM
  606463 OMIM
  608013 OMIM
PANTHER PTHR11069 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glyco_hydro_30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hydro_30C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28591 PharmGKB
PRINTS GLHYDRLASE30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51445 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A068F658 ENTREZGENE, UniProtKB/TrEMBL
  A0A0G2JLB3_HUMAN UniProtKB/TrEMBL
  A0A0G2JNZ0_HUMAN UniProtKB/TrEMBL
  A0A0G2JNZ5_HUMAN UniProtKB/TrEMBL
  B7Z6S9 ENTREZGENE, UniProtKB/TrEMBL
  D3DV87_HUMAN UniProtKB/TrEMBL
  GLCM_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K796 UniProtKB/Swiss-Prot
  B7Z5G2 UniProtKB/Swiss-Prot
  B7Z6S1 UniProtKB/Swiss-Prot
  J3KQG4 UniProtKB/Swiss-Prot
  J3KQK9 UniProtKB/Swiss-Prot
  Q16545 UniProtKB/Swiss-Prot
  Q4VX22 UniProtKB/Swiss-Prot
  Q6I9R6 UniProtKB/Swiss-Prot
  Q9UMJ8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-21 GBA  glucosylceramidase beta    glucosidase, beta, acid  Symbol and/or name change 5135510 APPROVED
2011-08-16 GBA  glucosidase, beta, acid  GBA  glucosidase, beta, acid  Symbol and/or name change 5135510 APPROVED
2011-07-27 GBA  glucosidase, beta, acid  GBA  glucosidase, beta; acid (includes glucosylceramidase)  Symbol and/or name change 5135510 APPROVED