GAD1 (glutamate decarboxylase 1) - Rat Genome Database

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Gene: GAD1 (glutamate decarboxylase 1) Homo sapiens
Analyze
Symbol: GAD1
Name: glutamate decarboxylase 1
RGD ID: 730853
HGNC Page HGNC
Description: Enables glutamate decarboxylase activity. Predicted to be involved in chemical synaptic transmission; glutamate decarboxylation to succinate; and protein-pyridoxal-5-phosphate linkage. Predicted to act upstream of or within locomotory exploration behavior and social behavior. Predicted to be located in several cellular components, including axon; neuron projection terminus; and synapse. Implicated in anxiety disorder; bipolar disorder; developmental and epileptic encephalopathy 89; schizophrenia; and spastic quadriplegia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 67 kDa glutamic acid decarboxylase; CPSQ1; DEE89; FLJ45882; GAD; GAD-67; GAD67; glutamate decarboxylase 1 (brain, 67kDa); glutamate decarboxylase 67 kDa isoform; SCP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2170,813,213 - 170,861,151 (+)EnsemblGRCh38hg38GRCh38
GRCh382170,813,210 - 170,861,151 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372171,673,397 - 171,717,661 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362171,381,446 - 171,425,907 (+)NCBINCBI36hg18NCBI36
Build 342171,498,706 - 171,524,775NCBI
Celera2165,289,914 - 165,334,327 (+)NCBI
Cytogenetic Map2q31.1NCBI
HuRef2163,562,349 - 163,606,375 (+)NCBIHuRef
CHM1_12171,679,435 - 171,723,884 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(-)-epigallocatechin 3-gallate  (ISO)
(R)-lipoic acid  (ISO)
(S)-nicotine  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-methyl-6-(phenylethynyl)pyridine  (ISO)
3-Acetylpyridine  (ISO)
3-mercaptopropanoic acid  (ISO)
5-aza-2'-deoxycytidine  (ISO)
6-propyl-2-thiouracil  (ISO)
acetic acid  (EXP)
acrylamide  (EXP)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP,ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
apocynin  (ISO)
Aroclor 1254  (ISO)
belinostat  (EXP)
benzo[a]pyrene  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
butanal  (EXP)
cadmium dichloride  (EXP)
cannabidiol  (ISO)
carbamazepine  (EXP)
chaetocin  (ISO)
chlorpromazine  (ISO)
cisplatin  (EXP)
clenbuterol  (ISO)
clozapine  (EXP,ISO)
cobalt dichloride  (EXP,ISO)
cocaine  (EXP,ISO)
corticosterone  (ISO)
Cuprizon  (ISO)
curcumin  (ISO)
cyclosporin A  (EXP)
cypermethrin  (ISO)
cyproconazole  (ISO)
D-glucose  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diazepam  (ISO)
dibutyl phthalate  (ISO)
dihydro-beta-erythroidine  (ISO)
dimethyl sulfoxide  (EXP)
dioxygen  (EXP,ISO)
disodium selenite  (ISO)
dizocilpine maleate  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
ethanol  (ISO)
fenamidone  (ISO)
fluoxetine  (ISO)
fluvoxamine  (ISO)
folic acid  (ISO)
fonofos  (EXP)
furan  (ISO)
furosemide  (ISO)
gamma-aminobutyric acid  (EXP,ISO)
genistein  (ISO)
glucose  (ISO)
haloperidol  (ISO)
hydrogen peroxide  (EXP)
kainic acid  (ISO)
ketamine  (ISO)
L-methionine  (ISO)
lead(0)  (EXP,ISO)
lead(2+)  (EXP,ISO)
leflunomide  (EXP)
lipoic acid  (ISO)
manganese(II) chloride  (ISO)
methotrexate  (EXP)
methylazoxymethanol  (ISO)
methylmercury chloride  (EXP,ISO)
mifepristone  (ISO)
monosodium L-glutamate  (ISO)
morphine  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-ethylmaleimide  (EXP)
nickel sulfate  (EXP)
nicotine  (ISO)
Nonylphenol  (ISO)
O-methyleugenol  (EXP)
olanzapine  (ISO)
oxidopamine  (ISO)
panobinostat  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
parathion  (EXP)
pentanal  (EXP)
pentane-2,3-dione  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenylmercury acetate  (EXP)
picrotoxin  (ISO)
poly(I:C)  (ISO)
propanal  (EXP)
propranolol  (ISO)
pyridoxal 5'-phosphate  (EXP,ISO)
quercetin  (EXP)
raloxifene  (EXP)
reserpine  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
streptozocin  (ISO)
sulpiride  (ISO)
tamoxifen  (EXP)
terbufos  (EXP)
testosterone  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (ISO)
triptonide  (ISO)
valproic acid  (EXP,ISO)
vigabatrin  (ISO)
vorinostat  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

References

Additional References at PubMed
PMID:1339255   PMID:1549570   PMID:1683463   PMID:1697032   PMID:2039509   PMID:7836456   PMID:8088791   PMID:8507202   PMID:8507203   PMID:8954991   PMID:9973289   PMID:10671565  
PMID:11032878   PMID:11140838   PMID:12376704   PMID:12477932   PMID:12515288   PMID:12750892   PMID:12774663   PMID:14681921   PMID:14702039   PMID:15014985   PMID:15091314   PMID:15103710  
PMID:15114630   PMID:15147202   PMID:15489334   PMID:15505639   PMID:15542242   PMID:15571623   PMID:15681389   PMID:15686475   PMID:15806582   PMID:15836621   PMID:16189514   PMID:16718280  
PMID:16722236   PMID:17113713   PMID:17235515   PMID:17325256   PMID:17384644   PMID:17412563   PMID:17471287   PMID:17474147   PMID:17553960   PMID:17652798   PMID:17726539   PMID:17767149  
PMID:17918742   PMID:18047830   PMID:18294085   PMID:18335162   PMID:18470533   PMID:18783896   PMID:18837046   PMID:19086053   PMID:19111404   PMID:19139806   PMID:19156168   PMID:19321177  
PMID:19328558   PMID:19367581   PMID:19428124   PMID:19548263   PMID:19783309   PMID:19874574   PMID:20201926   PMID:20236554   PMID:20301682   PMID:20357758   PMID:20598486   PMID:20602615  
PMID:20634891   PMID:20659789   PMID:20832408   PMID:20859245   PMID:20960264   PMID:21034448   PMID:21041608   PMID:21223646   PMID:21302352   PMID:21494613   PMID:21509853   PMID:21516116  
PMID:21632647   PMID:21937910   PMID:22099865   PMID:22309971   PMID:22384267   PMID:22564729   PMID:22662185   PMID:22840783   PMID:23022470   PMID:23376695   PMID:23566421   PMID:23906988  
PMID:24228494   PMID:24261884   PMID:24652383   PMID:24874321   PMID:24874453   PMID:24950944   PMID:25072323   PMID:25252306   PMID:25301693   PMID:25416956   PMID:25476119   PMID:25523979  
PMID:25647668   PMID:25660468   PMID:25851180   PMID:26549033   PMID:26752351   PMID:26822489   PMID:26871637   PMID:26980143   PMID:27107014   PMID:27530595   PMID:27967329   PMID:28122016  
PMID:28229923   PMID:28400476   PMID:28514442   PMID:28710909   PMID:29429137   PMID:30341396   PMID:30488987   PMID:30625343   PMID:30633779   PMID:31207151   PMID:31291233   PMID:31515488  
PMID:31586073   PMID:31866536   PMID:32282878   PMID:32296183   PMID:32514855   PMID:32705143  


Genomics

Comparative Map Data
GAD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2170,813,213 - 170,861,151 (+)EnsemblGRCh38hg38GRCh38
GRCh382170,813,210 - 170,861,151 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372171,673,397 - 171,717,661 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362171,381,446 - 171,425,907 (+)NCBINCBI36hg18NCBI36
Build 342171,498,706 - 171,524,775NCBI
Celera2165,289,914 - 165,334,327 (+)NCBI
Cytogenetic Map2q31.1NCBI
HuRef2163,562,349 - 163,606,375 (+)NCBIHuRef
CHM1_12171,679,435 - 171,723,884 (+)NCBICHM1_1
Gad1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39270,391,644 - 70,432,358 (+)NCBIGRCm39mm39
GRCm39 Ensembl270,383,416 - 70,432,358 (+)Ensembl
GRCm38270,561,303 - 70,602,014 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl270,553,072 - 70,602,014 (+)EnsemblGRCm38mm10GRCm38
MGSCv37270,400,221 - 70,440,069 (+)NCBIGRCm37mm9NCBIm37
MGSCv36270,363,052 - 70,402,853 (+)NCBImm8
Celera272,228,088 - 72,268,083 (+)NCBICelera
Cytogenetic Map2C2NCBI
cM Map241.63NCBI
Gad1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2355,369,704 - 55,410,335 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl355,369,704 - 55,410,333 (+)Ensembl
Rnor_6.0356,861,440 - 56,902,139 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl356,861,396 - 56,902,157 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0363,479,963 - 63,519,879 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4352,789,370 - 52,830,038 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1352,685,741 - 52,726,408 (+)NCBI
Celera354,926,942 - 54,967,478 (+)NCBICelera
Cytogenetic Map3q22NCBI
Gad1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554493,963,705 - 4,001,850 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554493,964,006 - 4,001,850 (-)NCBIChiLan1.0ChiLan1.0
GAD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B175,558,538 - 175,602,951 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B175,558,538 - 175,602,944 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B58,100,623 - 58,145,045 (+)NCBIMhudiblu_PPA_v0panPan3
GAD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13615,351,289 - 15,391,701 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3615,349,683 - 15,391,824 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3615,364,114 - 15,403,437 (+)NCBI
ROS_Cfam_1.03615,474,678 - 15,516,842 (+)NCBI
UMICH_Zoey_3.13615,565,032 - 15,604,314 (+)NCBI
UNSW_CanFamBas_1.03615,552,796 - 15,592,193 (+)NCBI
UU_Cfam_GSD_1.03615,664,544 - 15,703,870 (+)NCBI
Gad1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303132,606,889 - 132,647,134 (+)NCBI
SpeTri2.0NW_0049365091,160,559 - 1,201,037 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GAD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1576,991,928 - 77,034,817 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11576,991,863 - 77,034,819 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21586,375,113 - 86,419,237 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap15q21-q22NCBI
GAD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11056,351,495 - 56,396,476 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1056,353,253 - 56,396,524 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666040143,149,876 - 143,195,107 (-)NCBIVero_WHO_p1.0
Gad1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247878,308,759 - 8,345,929 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
D2S124  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372166,145,170 - 166,145,330UniSTSGRCh37
Build 362165,853,416 - 165,853,576RGDNCBI36
Celera2159,755,766 - 159,755,924RGD
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q31UniSTS
HuRef2158,027,574 - 158,027,732UniSTS
Marshfield Genetic Map2169.41UniSTS
Marshfield Genetic Map2169.41RGD
Genethon Genetic Map2175.4UniSTS
deCODE Assembly Map2171.0UniSTS
Whitehead-YAC Contig Map2 UniSTS
D2S148  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372178,231,421 - 178,231,609UniSTSGRCh37
GRCh372178,231,423 - 178,231,607UniSTSGRCh37
Build 362177,939,667 - 177,939,855RGDNCBI36
Celera2171,833,955 - 171,834,145RGD
Celera2171,833,957 - 171,834,143UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map2q31.2UniSTS
HuRef2170,102,098 - 170,102,288UniSTS
HuRef2170,102,100 - 170,102,286UniSTS
Marshfield Genetic Map2182.96UniSTS
Marshfield Genetic Map2182.96RGD
Genethon Genetic Map2189.7UniSTS
TNG Radiation Hybrid Map298793.0UniSTS
Stanford-G3 RH Map27332.0UniSTS
Whitehead-RH Map2887.2UniSTS
Whitehead-YAC Contig Map2 UniSTS
NCBI RH Map21392.8UniSTS
GeneMap99-G3 RH Map28187.0UniSTS
D2S2194  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372171,681,418 - 171,681,559UniSTSGRCh37
Build 362171,389,664 - 171,389,805RGDNCBI36
Celera2165,298,128 - 165,298,270RGD
Cytogenetic Map2q31UniSTS
HuRef2163,570,555 - 163,570,696UniSTS
Marshfield Genetic Map2175.91RGD
Marshfield Genetic Map2175.91UniSTS
Genethon Genetic Map2182.5UniSTS
TNG Radiation Hybrid Map295393.0UniSTS
RH122989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372171,683,550 - 171,683,843UniSTSGRCh37
Build 362171,391,796 - 171,392,089RGDNCBI36
Celera2165,300,262 - 165,300,555RGD
Cytogenetic Map2q31UniSTS
HuRef2163,572,688 - 163,572,981UniSTS
TNG Radiation Hybrid Map295397.0UniSTS
G66911  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372171,678,525 - 171,678,733UniSTSGRCh37
Build 362171,386,771 - 171,386,979RGDNCBI36
Celera2165,295,239 - 165,295,447RGD
Cytogenetic Map2q31UniSTS
HuRef2163,567,680 - 163,567,888UniSTS
G66915  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372171,693,236 - 171,693,801UniSTSGRCh37
Build 362171,401,482 - 171,402,047RGDNCBI36
Celera2165,309,907 - 165,310,472RGD
Cytogenetic Map2q31UniSTS
HuRef2163,581,979 - 163,582,544UniSTS
G66919  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372171,702,121 - 171,702,712UniSTSGRCh37
Build 362171,410,367 - 171,410,958RGDNCBI36
Celera2165,318,787 - 165,319,378RGD
Cytogenetic Map2q31UniSTS
HuRef2163,590,859 - 163,591,450UniSTS
G66908  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372171,702,423 - 171,703,016UniSTSGRCh37
Build 362171,410,669 - 171,411,262RGDNCBI36
Celera2165,319,089 - 165,319,682RGD
Cytogenetic Map2q31UniSTS
HuRef2163,591,161 - 163,591,754UniSTS
G66909  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372171,704,114 - 171,704,683UniSTSGRCh37
Build 362171,412,360 - 171,412,929RGDNCBI36
Celera2165,320,780 - 165,321,349RGD
Cytogenetic Map2q31UniSTS
HuRef2163,592,852 - 163,593,421UniSTS
G66910  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372171,705,753 - 171,706,291UniSTSGRCh37
Build 362171,413,999 - 171,414,537RGDNCBI36
Celera2165,322,419 - 165,322,957RGD
Cytogenetic Map2q31UniSTS
HuRef2163,594,490 - 163,595,028UniSTS
G66912  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372171,709,142 - 171,709,703UniSTSGRCh37
Build 362171,417,388 - 171,417,949RGDNCBI36
Celera2165,325,808 - 165,326,369RGD
Cytogenetic Map2q31UniSTS
HuRef2163,597,879 - 163,598,440UniSTS
G66913  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372171,710,300 - 171,710,849UniSTSGRCh37
Build 362171,418,546 - 171,419,095RGDNCBI36
Celera2165,326,966 - 165,327,515RGD
Cytogenetic Map2q31UniSTS
HuRef2163,599,037 - 163,599,586UniSTS
G66914  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372171,713,442 - 171,713,981UniSTSGRCh37
Build 362171,421,688 - 171,422,227RGDNCBI36
Celera2165,330,108 - 165,330,647RGD
Cytogenetic Map2q31UniSTS
HuRef2163,602,156 - 163,602,695UniSTS
G66916  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372171,715,216 - 171,715,765UniSTSGRCh37
Build 362171,423,462 - 171,424,011RGDNCBI36
Celera2165,331,882 - 165,332,431RGD
Cytogenetic Map2q31UniSTS
HuRef2163,603,930 - 163,604,479UniSTS
G66917  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372171,716,139 - 171,717,912UniSTSGRCh37
Build 362171,424,385 - 171,426,158RGDNCBI36
Celera2165,332,805 - 165,334,578RGD
HuRef2163,604,853 - 163,606,626UniSTS
G66918  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372171,717,245 - 171,717,720UniSTSGRCh37
Build 362171,425,491 - 171,425,966RGDNCBI36
Celera2165,333,911 - 165,334,386RGD
Cytogenetic Map2q31UniSTS
HuRef2163,605,959 - 163,606,434UniSTS
SHGC-30155  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372171,717,511 - 171,717,619UniSTSGRCh37
Build 362171,425,757 - 171,425,865RGDNCBI36
Celera2165,334,177 - 165,334,285RGD
Cytogenetic Map2q31UniSTS
HuRef2163,606,225 - 163,606,333UniSTS
TNG Radiation Hybrid Map295425.0UniSTS
Stanford-G3 RH Map26997.0UniSTS
GeneMap99-GB4 RH Map2567.59UniSTS
Whitehead-RH Map2843.2UniSTS
NCBI RH Map21337.4UniSTS
GeneMap99-G3 RH Map27852.0UniSTS
GAD1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372171,716,480 - 171,716,730UniSTSGRCh37
Build 362171,424,726 - 171,424,976RGDNCBI36
Celera2165,333,146 - 165,333,396RGD
HuRef2163,605,194 - 163,605,444UniSTS
SHGC-31511  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372171,716,480 - 171,716,682UniSTSGRCh37
Build 362171,424,726 - 171,424,928RGDNCBI36
Celera2165,333,146 - 165,333,348RGD
Cytogenetic Map2q31UniSTS
HuRef2163,605,194 - 163,605,396UniSTS
Stanford-G3 RH Map26929.0UniSTS
Whitehead-RH Map2845.3UniSTS
Whitehead-YAC Contig Map2 UniSTS
NCBI RH Map21337.4UniSTS
GeneMap99-G3 RH Map27784.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4129
Count of miRNA genes:1106
Interacting mature miRNAs:1416
Transcripts:ENST00000344257, ENST00000358196, ENST00000375272, ENST00000414527, ENST00000429023, ENST00000445006, ENST00000454603, ENST00000455008, ENST00000456864, ENST00000462739, ENST00000478562, ENST00000485013, ENST00000486850, ENST00000488724, ENST00000493270, ENST00000493875
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 13 279 89 1 13 1 213 1 2114 11 15 46 183
Low 179 978 629 52 265 54 921 63 993 283 994 438 10 1 92 557
Below cutoff 2143 1523 819 419 1376 259 3054 1908 603 98 430 1070 162 1102 1904 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_013445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide A28074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF178853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY337516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ871601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L16888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M55574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M70434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M81883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M86522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S34531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S61897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S61898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z22750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000344257   ⟹   ENSP00000341167
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2170,816,912 - 170,842,759 (+)Ensembl
RefSeq Acc Id: ENST00000358196   ⟹   ENSP00000350928
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2170,816,887 - 170,861,151 (+)Ensembl
RefSeq Acc Id: ENST00000375272   ⟹   ENSP00000364421
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2170,816,690 - 170,842,756 (+)Ensembl
RefSeq Acc Id: ENST00000414527   ⟹   ENSP00000403849
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2170,817,038 - 170,859,916 (+)Ensembl
RefSeq Acc Id: ENST00000429023
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2170,818,611 - 170,844,157 (+)Ensembl
RefSeq Acc Id: ENST00000445006   ⟹   ENSP00000394948
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2170,816,114 - 170,822,116 (+)Ensembl
RefSeq Acc Id: ENST00000454603   ⟹   ENSP00000402366
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2170,813,213 - 170,829,585 (+)Ensembl
RefSeq Acc Id: ENST00000455008   ⟹   ENSP00000405917
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2170,817,255 - 170,830,991 (+)Ensembl
RefSeq Acc Id: ENST00000456864   ⟹   ENSP00000394255
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2170,817,769 - 170,831,008 (+)Ensembl
RefSeq Acc Id: ENST00000462739
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2170,843,802 - 170,845,543 (+)Ensembl
RefSeq Acc Id: ENST00000478562
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2170,852,488 - 170,861,147 (+)Ensembl
RefSeq Acc Id: ENST00000485013
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2170,821,718 - 170,829,620 (+)Ensembl
RefSeq Acc Id: ENST00000486850   ⟹   ENSP00000476147
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2170,822,087 - 170,829,872 (+)Ensembl
RefSeq Acc Id: ENST00000488724
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2170,849,067 - 170,860,253 (+)Ensembl
RefSeq Acc Id: ENST00000493270
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2170,828,968 - 170,831,090 (+)Ensembl
RefSeq Acc Id: ENST00000493875   ⟹   ENSP00000434696
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2170,817,770 - 170,861,151 (+)Ensembl
RefSeq Acc Id: ENST00000625689   ⟹   ENSP00000486612
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2170,816,562 - 170,861,135 (+)Ensembl
RefSeq Acc Id: NM_000817   ⟹   NP_000808
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382170,816,887 - 170,861,151 (+)NCBI
GRCh372171,673,200 - 171,717,661 (+)ENTREZGENE
GRCh372171,673,200 - 171,717,661 (+)NCBI
Build 362171,381,446 - 171,425,907 (+)NCBI Archive
HuRef2163,562,349 - 163,606,375 (+)ENTREZGENE
CHM1_12171,679,435 - 171,723,884 (+)NCBI
Sequence:
RefSeq Acc Id: NM_013445   ⟹   NP_038473
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382170,816,887 - 170,842,759 (+)NCBI
GRCh372171,673,200 - 171,717,661 (+)ENTREZGENE
GRCh372171,673,200 - 171,717,661 (+)NCBI
Build 362171,381,446 - 171,407,515 (+)NCBI Archive
HuRef2163,562,349 - 163,606,375 (+)ENTREZGENE
CHM1_12171,679,435 - 171,705,469 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005246444   ⟹   XP_005246501
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382170,816,722 - 170,842,759 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510922   ⟹   XP_011509224
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382170,813,210 - 170,861,151 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003756   ⟹   XP_016859245
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382170,817,255 - 170,861,151 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003757   ⟹   XP_016859246
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382170,816,722 - 170,849,354 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003758   ⟹   XP_016859247
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382170,816,722 - 170,844,133 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452783   ⟹   XP_024308551
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382170,844,576 - 170,861,151 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000808 (Get FASTA)   NCBI Sequence Viewer  
  NP_038473 (Get FASTA)   NCBI Sequence Viewer  
  XP_005246501 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509224 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859245 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859246 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859247 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308551 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35900 (Get FASTA)   NCBI Sequence Viewer  
  AAA52512 (Get FASTA)   NCBI Sequence Viewer  
  AAA62368 (Get FASTA)   NCBI Sequence Viewer  
  AAA72938 (Get FASTA)   NCBI Sequence Viewer  
  AAB26937 (Get FASTA)   NCBI Sequence Viewer  
  AAB26938 (Get FASTA)   NCBI Sequence Viewer  
  AAB59427 (Get FASTA)   NCBI Sequence Viewer  
  AAF18390 (Get FASTA)   NCBI Sequence Viewer  
  AAH02815 (Get FASTA)   NCBI Sequence Viewer  
  AAH26349 (Get FASTA)   NCBI Sequence Viewer  
  AAH36552 (Get FASTA)   NCBI Sequence Viewer  
  AAH37780 (Get FASTA)   NCBI Sequence Viewer  
  AAP88035 (Get FASTA)   NCBI Sequence Viewer  
  AAY24237 (Get FASTA)   NCBI Sequence Viewer  
  ABI49508 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33544 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33545 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33546 (Get FASTA)   NCBI Sequence Viewer  
  BAF85271 (Get FASTA)   NCBI Sequence Viewer  
  CAA01913 (Get FASTA)   NCBI Sequence Viewer  
  CAA80435 (Get FASTA)   NCBI Sequence Viewer  
  EAX11228 (Get FASTA)   NCBI Sequence Viewer  
  EAX11229 (Get FASTA)   NCBI Sequence Viewer  
  EAX11230 (Get FASTA)   NCBI Sequence Viewer  
  Q99259 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000808   ⟸   NM_000817
- Peptide Label: isoform GAD67
- UniProtKB: Q99259 (UniProtKB/Swiss-Prot),   Q8IVA8 (UniProtKB/TrEMBL),   A0A0S2Z3V5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_038473   ⟸   NM_013445
- Peptide Label: isoform GAD25
- UniProtKB: Q99259 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005246501   ⟸   XM_005246444
- Peptide Label: isoform X4
- UniProtKB: Q99259 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011509224   ⟸   XM_011510922
- Peptide Label: isoform X1
- UniProtKB: Q99259 (UniProtKB/Swiss-Prot),   A0A0S2Z3V5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016859246   ⟸   XM_017003757
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016859247   ⟸   XM_017003758
- Peptide Label: isoform X4
- UniProtKB: Q99259 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016859245   ⟸   XM_017003756
- Peptide Label: isoform X1
- UniProtKB: Q99259 (UniProtKB/Swiss-Prot),   A0A0S2Z3V5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308551   ⟸   XM_024452783
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000403849   ⟸   ENST00000414527
RefSeq Acc Id: ENSP00000486612   ⟸   ENST00000625689
RefSeq Acc Id: ENSP00000364421   ⟸   ENST00000375272
RefSeq Acc Id: ENSP00000434696   ⟸   ENST00000493875
RefSeq Acc Id: ENSP00000402366   ⟸   ENST00000454603
RefSeq Acc Id: ENSP00000405917   ⟸   ENST00000455008
RefSeq Acc Id: ENSP00000394255   ⟸   ENST00000456864
RefSeq Acc Id: ENSP00000394948   ⟸   ENST00000445006
RefSeq Acc Id: ENSP00000476147   ⟸   ENST00000486850
RefSeq Acc Id: ENSP00000350928   ⟸   ENST00000358196
RefSeq Acc Id: ENSP00000341167   ⟸   ENST00000344257

Promoters
RGD ID:6861994
Promoter ID:EPDNEW_H4162
Type:initiation region
Name:GAD1_2
Description:glutamate decarboxylase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4163  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382170,816,752 - 170,816,812EPDNEW
RGD ID:6861998
Promoter ID:EPDNEW_H4163
Type:initiation region
Name:GAD1_1
Description:glutamate decarboxylase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4162  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382170,816,887 - 170,816,947EPDNEW
RGD ID:6797499
Promoter ID:HG_KWN:35859
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour
Transcripts:ENST00000375273,   NM_013445,   OTTHUMT00000102664,   OTTHUMT00000102665,   OTTHUMT00000102666,   OTTHUMT00000333706,   OTTHUMT00000333710,   OTTHUMT00000333711,   OTTHUMT00000333712,   OTTHUMT00000333715
Position:
Human AssemblyChrPosition (strand)Source
Build 362171,380,501 - 171,381,001 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000817.3(GAD1):c.35C>G (p.Ser12Cys) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000005363] Chr2:170818626 [GRCh38]
Chr2:171675136 [GRCh37]
Chr2:2q31.1
pathogenic|uncertain significance
GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1 copy number loss See cases [RCV000051201] Chr2:164850117..175559190 [GRCh38]
Chr2:165706627..176423918 [GRCh37]
Chr2:165414873..176132164 [NCBI36]
Chr2:2q24.3-31.1
pathogenic
GRCh38/hg38 2q31.1(chr2:170444219-172050237)x1 copy number loss See cases [RCV000052553] Chr2:170444219..172050237 [GRCh38]
Chr2:171300729..172914965 [GRCh37]
Chr2:171008975..172623211 [NCBI36]
Chr2:2q31.1
pathogenic
GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1 copy number loss See cases [RCV000054122] Chr2:163965382..182195062 [GRCh38]
Chr2:164821892..183059789 [GRCh37]
Chr2:164530138..182768034 [NCBI36]
Chr2:2q24.3-32.1
pathogenic
GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1 copy number loss See cases [RCV000054123] Chr2:164066038..172097886 [GRCh38]
Chr2:164922548..172962614 [GRCh37]
Chr2:164630794..172670860 [NCBI36]
Chr2:2q24.3-31.1
pathogenic
GRCh38/hg38 2q31.1(chr2:170101430-171243609)x1 copy number loss See cases [RCV000054126] Chr2:170101430..171243609 [GRCh38]
Chr2:170957940..172100119 [GRCh37]
Chr2:170666186..171808365 [NCBI36]
Chr2:2q31.1
pathogenic
GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1 copy number loss See cases [RCV000054127] Chr2:170407688..186189894 [GRCh38]
Chr2:171264198..187054621 [GRCh37]
Chr2:170972444..186762866 [NCBI36]
Chr2:2q31.1-32.1
pathogenic
GRCh38/hg38 2q31.1(chr2:170800982-170918434)x3 copy number gain See cases [RCV000141351] Chr2:170800982..170918434 [GRCh38]
Chr2:171657492..171774944 [GRCh37]
Chr2:171365738..171483190 [NCBI36]
Chr2:2q31.1
uncertain significance
GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 copy number gain See cases [RCV000142286] Chr2:154294042..175989372 [GRCh38]
Chr2:155150555..176854100 [GRCh37]
Chr2:154858801..176562346 [NCBI36]
Chr2:2q24.1-31.1
pathogenic
NM_000817.3(GAD1):c.265C>T (p.Arg89Trp) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000406269] Chr2:170829594 [GRCh38]
Chr2:171686104 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_001367624.1(ZNF469):c.8625G>A (p.Pro2875=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000385862]|not provided [RCV001712056] Chr2:170858877 [GRCh38]
Chr2:171715387 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_000817.3(GAD1):c.1612-3A>G single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000861353] Chr2:170859706 [GRCh38]
Chr2:171716216 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_000817.3(GAD1):c.682A>C (p.Ile228Leu) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000299319]|not provided [RCV000422631] Chr2:170844088 [GRCh38]
Chr2:171700598 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.399T>C (p.Asp133=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000647735] Chr2:170831044 [GRCh38]
Chr2:171687554 [GRCh37]
Chr2:2q31.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000817.3(GAD1):c.867+9G>A single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000264911] Chr2:170845630 [GRCh38]
Chr2:171702140 [GRCh37]
Chr2:2q31.1
uncertain significance
null single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000290854]|not provided [RCV001672564] Chr2:170857054 [GRCh38]
Chr2:171713564 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_000817.3(GAD1):c.1251C>T (p.Leu417=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000898493] Chr2:170852780 [GRCh38]
Chr2:171709290 [GRCh37]
Chr2:2q31.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000817.3(GAD1):c.1173C>T (p.Asn391=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000861449] Chr2:170849339 [GRCh38]
Chr2:171705849 [GRCh37]
Chr2:2q31.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001367624.1(ZNF469):c.8625G>A (p.Pro2875=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000368065]|Developmental and epileptic encephalopathy 89 [RCV001701858]|not provided [RCV001712055]|not specified [RCV001529844] Chr2:170822115 [GRCh38]
Chr2:171678625 [GRCh37]
Chr2:2q31.1
benign
NM_000817.3(GAD1):c.1473T>C (p.Tyr491=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000953182] Chr2:170857077 [GRCh38]
Chr2:171713587 [GRCh37]
Chr2:2q31.1
benign|likely benign|uncertain significance
NM_000817.3(GAD1):c.268C>T (p.Arg90Cys) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000314483] Chr2:170829597 [GRCh38]
Chr2:171686107 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3 copy number gain See cases [RCV000239848] Chr2:156489430..182921298 [GRCh37]
Chr2:2q24.1-31.3
pathogenic
null single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000322299]|not provided [RCV001613079] Chr2:170846075 [GRCh38]
Chr2:171702585 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_000817.3(GAD1):c.*1205G>A single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000269882] Chr2:170861087 [GRCh38]
Chr2:171717597 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.*803T>C single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000266547] Chr2:170860685 [GRCh38]
Chr2:171717195 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_013445.3(GAD1):c.-292T>C single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000277426] Chr2:170816824 [GRCh38]
Chr2:171673334 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.380A>T (p.Tyr127Phe) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000352921] Chr2:170831025 [GRCh38]
Chr2:171687535 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_013445.3(GAD1):c.-259G>A single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000316038] Chr2:170816857 [GRCh38]
Chr2:171673367 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.*700C>T single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000301758] Chr2:170860582 [GRCh38]
Chr2:171717092 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_000817.3(GAD1):c.*431G>A single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000336342] Chr2:170860313 [GRCh38]
Chr2:171716823 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.807G>A (p.Pro269=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000861448] Chr2:170845561 [GRCh38]
Chr2:171702071 [GRCh37]
Chr2:2q31.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000817.3(GAD1):c.*513C>T single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000402435] Chr2:170860395 [GRCh38]
Chr2:171716905 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_000817.3(GAD1):c.*67A>G single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000403256] Chr2:170859949 [GRCh38]
Chr2:171716459 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_000817.3(GAD1):c.-170G>A single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000320858] Chr2:170816942 [GRCh38]
Chr2:171673452 [GRCh37]
Chr2:2q31.1
likely benign|uncertain significance
NM_000817.3(GAD1):c.1290G>A (p.Met430Ile) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000382865] Chr2:170853899 [GRCh38]
Chr2:171710409 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.*1008C>T single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000362171] Chr2:170860890 [GRCh38]
Chr2:171717400 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_000817.3(GAD1):c.-147G>A single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000408329] Chr2:170816965 [GRCh38]
Chr2:171673475 [GRCh37]
Chr2:2q31.1
benign
NM_000817.3(GAD1):c.-158G>A single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000343130] Chr2:170816954 [GRCh38]
Chr2:171673464 [GRCh37]
Chr2:2q31.1
benign|likely benign
NM_000817.3(GAD1):c.1252G>T (p.Val418Phe) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000326022]|Hereditary spastic paraplegia [RCV000515943] Chr2:170852781 [GRCh38]
Chr2:171709291 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.-41_-40insCT insertion Cerebral palsy spastic quadriplegic [RCV000346213] Chr2:170818551..170818552 [GRCh38]
Chr2:171675061..171675062 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.-29A>G single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000390716] Chr2:170818563 [GRCh38]
Chr2:171675073 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_013445.3(GAD1):c.-401T>G single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000369647] Chr2:170816715 [GRCh38]
Chr2:171673225 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.*394G>A single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000297794] Chr2:170860276 [GRCh38]
Chr2:171716786 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_013445.3(GAD1):c.-248G>A single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000373052] Chr2:170816868 [GRCh38]
Chr2:171673378 [GRCh37]
Chr2:2q31.1
benign|uncertain significance
NM_000817.3(GAD1):c.-176G>C single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000282190] Chr2:170816936 [GRCh38]
Chr2:171673446 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_000817.3(GAD1):c.*810T>C single nucleotide variant Cerebral palsy spastic quadriplegic [RCV000305335] Chr2:170860692 [GRCh38]
Chr2:171717202 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.1614G>C (p.Val538=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000351263] Chr2:170859711 [GRCh38]
Chr2:171716221 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.-161G>T single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000285815] Chr2:170816951 [GRCh38]
Chr2:171673461 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.1672C>T (p.Pro558Ser) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000625924] Chr2:170859769 [GRCh38]
Chr2:171716279 [GRCh37]
Chr2:2q31.1
likely pathogenic|likely benign
NM_000817.3(GAD1):c.17C>T (p.Pro6Leu) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000311175] Chr2:170818608 [GRCh38]
Chr2:171675118 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.-53C>A single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000288930] Chr2:170818539 [GRCh38]
Chr2:171675049 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.*764G>T single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000358950] Chr2:170860646 [GRCh38]
Chr2:171717156 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.-161G>A single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000377906] Chr2:170816951 [GRCh38]
Chr2:171673461 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q31.1(chr2:171667051-176832848)x3 copy number gain not provided [RCV000682159] Chr2:171667051..176832848 [GRCh37]
Chr2:2q31.1
pathogenic
NM_000817.3(GAD1):c.865C>T (p.Gln289Ter) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000685355] Chr2:170845619 [GRCh38]
Chr2:171702129 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.80C>A (p.Thr27Lys) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001134937]|Infantile spasms [RCV000678798] Chr2:170818671 [GRCh38]
Chr2:171675181 [GRCh37]
Chr2:2q31.1
benign|likely benign|uncertain significance
NM_000817.3(GAD1):c.1246A>G (p.Ile416Val) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000678796]|intractable epilepsy [RCV000678797] Chr2:170852775 [GRCh38]
Chr2:171709285 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.1334C>T (p.Ser445Phe) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000704234] Chr2:170853943 [GRCh38]
Chr2:171710453 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)x3 copy number gain not provided [RCV000740654] Chr2:152409978..179325736 [GRCh37]
Chr2:2q23.3-31.2
pathogenic
NM_000817.3(GAD1):c.819A>G (p.Thr273=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001485150]|not provided [RCV000895418] Chr2:170845573 [GRCh38]
Chr2:171702083 [GRCh37]
Chr2:2q31.1
likely benign
NM_013445.3(GAD1):c.-280C>T single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001132520] Chr2:170816836 [GRCh38]
Chr2:171673346 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.-91G>C single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001133444] Chr2:170817021 [GRCh38]
Chr2:171673531 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.321G>A (p.Lys107=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001430139]|not provided [RCV000943942] Chr2:170830966 [GRCh38]
Chr2:171687476 [GRCh37]
Chr2:2q31.1
likely benign
NM_000817.3(GAD1):c.1002+4T>G single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000817184] Chr2:170846067 [GRCh38]
Chr2:171702577 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.1251_1252delinsTT (p.Val418Phe) indel Cerebral palsy, spastic quadriplegic, 1 [RCV000793748] Chr2:170852780..170852781 [GRCh38]
Chr2:171709290..171709291 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.1611+5G>A single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000802843] Chr2:170858898 [GRCh38]
Chr2:171715408 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.34T>A (p.Ser12Thr) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000803829] Chr2:170818625 [GRCh38]
Chr2:171675135 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1 copy number loss not provided [RCV000848216] Chr2:167329586..192756373 [GRCh37]
Chr2:2q24.3-32.3
pathogenic
NM_000817.3(GAD1):c.266G>A (p.Arg89Gln) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000802740] Chr2:170829595 [GRCh38]
Chr2:171686105 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_013445.3(GAD1):c.-230T>C single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001132521] Chr2:170816886 [GRCh38]
Chr2:171673396 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.-39A>C single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001133445] Chr2:170818553 [GRCh38]
Chr2:171675063 [GRCh37]
Chr2:2q31.1
likely benign
NM_000817.3(GAD1):c.*242A>C single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001133565] Chr2:170860124 [GRCh38]
Chr2:171716634 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.1638G>C (p.Met546Ile) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001046679] Chr2:170859735 [GRCh38]
Chr2:171716245 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.264C>G (p.Phe88Leu) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001134939] Chr2:170829593 [GRCh38]
Chr2:171686103 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.*561A>C single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001135057] Chr2:170860443 [GRCh38]
Chr2:171716953 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.147C>T (p.Gly49=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001134938] Chr2:170829476 [GRCh38]
Chr2:171685986 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.*737G>A single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001135058] Chr2:170860619 [GRCh38]
Chr2:171717129 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_013445.3(GAD1):c.-399G>T single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001129832] Chr2:170816717 [GRCh38]
Chr2:171673227 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.*1101G>A single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001130035] Chr2:170860983 [GRCh38]
Chr2:171717493 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34
pathogenic
NM_000817.3(GAD1):c.269G>A (p.Arg90His) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001240076] Chr2:170829598 [GRCh38]
Chr2:171686108 [GRCh37]
Chr2:2q31.1
uncertain significance
null single nucleotide variant not provided [RCV001617648] Chr2:170818186 [GRCh38]
Chr2:171674696 [GRCh37]
Chr2:2q31.1
benign
null single nucleotide variant not provided [RCV001619002] Chr2:170821869 [GRCh38]
Chr2:171678379 [GRCh37]
Chr2:2q31.1
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001684895] Chr2:170848009 [GRCh38]
Chr2:171704519 [GRCh37]
Chr2:2q31.1
benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) single nucleotide variant not provided [RCV001677162] Chr2:170844219 [GRCh38]
Chr2:171700729 [GRCh37]
Chr2:2q31.1
benign
NM_000817.3(GAD1):c.39G>T (p.Ser13=) single nucleotide variant not provided [RCV000931111] Chr2:170818630 [GRCh38]
Chr2:171675140 [GRCh37]
Chr2:2q31.1
likely benign
NM_000817.3(GAD1):c.1252G>A (p.Val418Ile) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000968298] Chr2:170852781 [GRCh38]
Chr2:171709291 [GRCh37]
Chr2:2q31.1
likely benign
NM_000817.3(GAD1):c.1184+5C>T single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000962000] Chr2:170849355 [GRCh38]
Chr2:171705865 [GRCh37]
Chr2:2q31.1
likely benign
NM_000817.3(GAD1):c.1758G>A (p.Glu586=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000880324] Chr2:170859855 [GRCh38]
Chr2:171716365 [GRCh37]
Chr2:2q31.1
likely benign
NM_000817.3(GAD1):c.*1129C>T single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001130036] Chr2:170861011 [GRCh38]
Chr2:171717521 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.*419T>G single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001135056] Chr2:170860301 [GRCh38]
Chr2:171716811 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.92C>T (p.Thr31Ile) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001196808] Chr2:170822096 [GRCh38]
Chr2:171678606 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.1402T>G (p.Trp468Gly) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV000985105] Chr2:170854011 [GRCh38]
Chr2:171710521 [GRCh37]
Chr2:2q31.1
likely pathogenic
null single nucleotide variant not provided [RCV001620906] Chr2:170818871 [GRCh38]
Chr2:171675381 [GRCh37]
Chr2:2q31.1
benign
NM_022445.4(TPK1):c.614-13del single nucleotide variant not provided [RCV001721893] Chr2:170837129 [GRCh38]
Chr2:171693639 [GRCh37]
benign
null single nucleotide variant not provided [RCV001635984] Chr2:170853011 [GRCh38]
Chr2:171709521 [GRCh37]
Chr2:2q31.1
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001659498] Chr2:170845970 [GRCh38]
Chr2:171702480 [GRCh37]
Chr2:2q31.1
benign
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant not provided [RCV001717590] Chr2:170858623 [GRCh38]
Chr2:171715133 [GRCh37]
Chr2:2q31.1
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001657658] Chr2:170829818 [GRCh38]
Chr2:171686328 [GRCh37]
Chr2:2q31.1
benign
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant not provided [RCV001715513] Chr2:170852474 [GRCh38]
Chr2:171708984 [GRCh37]
Chr2:2q31.1
benign
null deletion not provided [RCV001621010] Chr2:170844408 [GRCh38]
Chr2:171700918 [GRCh37]
Chr2:2q31.1
benign
NM_000817.3(GAD1):c.933A>G (p.Ile311Met) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001129913] Chr2:170845771 [GRCh38]
Chr2:171702281 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_013445.3(GAD1):c.-296C>T single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001129833] Chr2:170816820 [GRCh38]
Chr2:171673330 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant not provided [RCV001713434] Chr2:170859610 [GRCh38]
Chr2:171716120 [GRCh37]
Chr2:2q31.1
benign
null single nucleotide variant not provided [RCV001668040] Chr2:170852920 [GRCh38]
Chr2:171709430 [GRCh37]
Chr2:2q31.1
benign
null single nucleotide variant not provided [RCV001692732] Chr2:170845254 [GRCh38]
Chr2:171701764 [GRCh37]
Chr2:2q31.1
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001685658] Chr2:170843849 [GRCh38]
Chr2:171700359 [GRCh37]
Chr2:2q31.1
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001683821] Chr2:170842889 [GRCh38]
Chr2:171699399 [GRCh37]
Chr2:2q31.1
benign
NM_000817.3(GAD1):c.1120-8C>A single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001129914] Chr2:170849278 [GRCh38]
Chr2:171705788 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.*989C>T single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001130034] Chr2:170860871 [GRCh38]
Chr2:171717381 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.*1153T>C single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001130037] Chr2:170861035 [GRCh38]
Chr2:171717545 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.1184+6G>A single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001130616] Chr2:170849356 [GRCh38]
Chr2:171705866 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.1200C>T (p.Thr400=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001130617] Chr2:170852729 [GRCh38]
Chr2:171709239 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.1525G>C (p.Glu509Gln) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001053838] Chr2:170858807 [GRCh38]
Chr2:171715317 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1 copy number loss 2q24 microdeletion syndrome [RCV001263223] Chr2:163078055..182119617 [GRCh37]
Chr2:2q24.2-31.3
pathogenic
NM_000817.3(GAD1):c.1723G>A (p.Ala575Thr) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001297202] Chr2:170859820 [GRCh38]
Chr2:171716330 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.1519G>A (p.Glu507Lys) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001306396] Chr2:170857123 [GRCh38]
Chr2:171713633 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.1773C>A (p.Gly591=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001397661] Chr2:170859870 [GRCh38]
Chr2:171716380 [GRCh37]
Chr2:2q31.1
likely benign
NM_000817.3(GAD1):c.1414-1G>C single nucleotide variant Developmental and epileptic encephalopathy 89 [RCV001270690] Chr2:170857017 [GRCh38]
Chr2:171713527 [GRCh37]
Chr2:2q31.1
pathogenic
NM_000817.3(GAD1):c.1612-8A>G single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001421283] Chr2:170859701 [GRCh38]
Chr2:171716211 [GRCh37]
Chr2:2q31.1
likely benign
NM_000817.3(GAD1):c.692AGA[1] (p.Lys232del) microsatellite Developmental and epileptic encephalopathy 89 [RCV001270691] Chr2:170844097..170844099 [GRCh38]
Chr2:171700607..171700609 [GRCh37]
Chr2:2q31.1
pathogenic
NM_000817.3(GAD1):c.1525G>A (p.Glu509Lys) single nucleotide variant Developmental and epileptic encephalopathy 89 [RCV001270694] Chr2:170858807 [GRCh38]
Chr2:171715317 [GRCh37]
Chr2:2q31.1
pathogenic
NM_000817.3(GAD1):c.1265G>A (p.Gly422Asp) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001322474] Chr2:170853874 [GRCh38]
Chr2:171710384 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.1140G>C (p.Leu380=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001413700] Chr2:170849306 [GRCh38]
Chr2:171705816 [GRCh37]
Chr2:2q31.1
likely benign
NM_000817.3(GAD1):c.1184+17G>A single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001330038] Chr2:170849367 [GRCh38]
Chr2:171705877 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_000817.3(GAD1):c.812_816del (p.Val271fs) deletion Developmental and epileptic encephalopathy 89 [RCV001270692] Chr2:170845563..170845567 [GRCh38]
Chr2:171702073..171702077 [GRCh37]
Chr2:2q31.1
pathogenic
NM_000817.3(GAD1):c.1591C>T (p.Arg531Ter) single nucleotide variant Developmental and epileptic encephalopathy 89 [RCV001270693] Chr2:170858873 [GRCh38]
Chr2:171715383 [GRCh37]
Chr2:2q31.1
pathogenic
NM_000817.3(GAD1):c.1443C>T (p.Asn481=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001465500] Chr2:170857047 [GRCh38]
Chr2:171713557 [GRCh37]
Chr2:2q31.1
likely benign
NM_000817.3(GAD1):c.639-9C>A single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001499228] Chr2:170844036 [GRCh38]
Chr2:171700546 [GRCh37]
Chr2:2q31.1
likely benign
NM_000817.3(GAD1):c.198C>T (p.Ala66=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001450896] Chr2:170829527 [GRCh38]
Chr2:171686037 [GRCh37]
Chr2:2q31.1
likely benign
null single nucleotide variant not provided [RCV001614565] Chr2:170836945 [GRCh38]
Chr2:171693455 [GRCh37]
Chr2:2q31.1
benign
NM_000817.3(GAD1):c.381T>C (p.Tyr127=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 1 [RCV001482431] Chr2:170831026 [GRCh38]
Chr2:171687536 [GRCh37]
Chr2:2q31.1
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4092 AgrOrtholog
COSMIC GAD1 COSMIC
Ensembl Genes ENSG00000128683 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000341167 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000350928 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000364421 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000394255 UniProtKB/TrEMBL
  ENSP00000394948 UniProtKB/TrEMBL
  ENSP00000402366 UniProtKB/TrEMBL
  ENSP00000403849 UniProtKB/TrEMBL
  ENSP00000405917 UniProtKB/TrEMBL
  ENSP00000434696 UniProtKB/Swiss-Prot
  ENSP00000476147 UniProtKB/TrEMBL
  ENSP00000486612 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000344257 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000358196 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000375272 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000414527 UniProtKB/TrEMBL
  ENST00000445006 UniProtKB/TrEMBL
  ENST00000454603 UniProtKB/TrEMBL
  ENST00000455008 UniProtKB/TrEMBL
  ENST00000456864 UniProtKB/TrEMBL
  ENST00000486850 UniProtKB/TrEMBL
  ENST00000493875 UniProtKB/Swiss-Prot
  ENST00000625689 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.640.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000128683 GTEx
HGNC ID HGNC:4092 ENTREZGENE
Human Proteome Map GAD1 Human Proteome Map
InterPro PyrdxlP-dep_de-COase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_major UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pyridoxal-P_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2571 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2571 ENTREZGENE
OMIM 605363 OMIM
  619124 OMIM
Pfam Pyridoxal_deC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28507 PharmGKB
PROSITE DDC_GAD_HDC_YDC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53383 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z3U2_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3V5 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z4D9_HUMAN UniProtKB/TrEMBL
  C9J6C9_HUMAN UniProtKB/TrEMBL
  C9JLZ7_HUMAN UniProtKB/TrEMBL
  C9JN45_HUMAN UniProtKB/TrEMBL
  C9JT43_HUMAN UniProtKB/TrEMBL
  DCE1_HUMAN UniProtKB/Swiss-Prot
  F8WD43_HUMAN UniProtKB/TrEMBL
  Q8IVA8 ENTREZGENE, UniProtKB/TrEMBL
  Q99259 ENTREZGENE
  U3KQR2_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q49AK1 UniProtKB/Swiss-Prot
  Q53TQ7 UniProtKB/Swiss-Prot
  Q9BU91 UniProtKB/Swiss-Prot
  Q9UHH4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-10 GAD1  glutamate decarboxylase 1    glutamate decarboxylase 1 (brain, 67kDa)  Symbol and/or name change 5135510 APPROVED
2011-08-16 GAD1  glutamate decarboxylase 1 (brain, 67kDa)  GAD1  glutamate decarboxylase 1 (brain, 67kDa)  Symbol and/or name change 5135510 APPROVED