OGT (O-linked N-acetylglucosamine (GlcNAc) transferase) - Rat Genome Database

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Gene: OGT (O-linked N-acetylglucosamine (GlcNAc) transferase) Homo sapiens
Analyze
Symbol: OGT
Name: O-linked N-acetylglucosamine (GlcNAc) transferase
RGD ID: 736466
HGNC Page HGNC
Description: Exhibits phosphatidylinositol-3,4,5-trisphosphate binding activity; protein N-acetylglucosaminyltransferase activity; and protein O-GlcNAc transferase activity. Involved in several processes, including histone modification; regulation of cellular protein metabolic process; and regulation of nucleobase-containing compound metabolic process. Localizes to several cellular components, including cytosol; histone acetyltransferase complex; and protein N-acetylglucosaminyltransferase complex. Implicated in non-syndromic X-linked intellectual disability 106. Biomarker of aortic valve stenosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FLJ23071; HINCUT-1; HRNT1; MGC22921; MRX106; o linked n-acetylglucosamine transferase; O-GLCNAC; O-GlcNAc transferase p110 subunit; O-GlcNAc transferase subunit p110; O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase); O-linked N-acetylglucosamine transferase 110 kDa subunit; OGT1; UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit; UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase; uridinediphospho-N-acetylglucosamine:polypeptide beta-N-acetylglucosaminyl transferase
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 EnsemblX71,533,104 - 71,575,892 (+)EnsemblGRCh38hg38GRCh38
GRCh38X71,533,104 - 71,575,892 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X70,752,954 - 70,795,742 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X70,669,658 - 70,712,465 (+)NCBINCBI36hg18NCBI36
Build 34X70,535,953 - 70,578,761NCBI
CeleraX71,105,953 - 71,148,788 (+)NCBI
Cytogenetic MapXq13.1NCBI
HuRefX64,568,037 - 64,610,949 (+)NCBIHuRef
CHM1_1X70,645,269 - 70,688,159 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
(S)-nicotine  (EXP)
1,2-dimethylhydrazine  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,6-dinitrotoluene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acetaminophen O-beta-D-glucosiduronic acid  (ISO)
aflatoxin B1  (ISO)
aldehydo-D-glucosamine  (ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
Aroclor 1254  (ISO)
arsenous acid  (EXP)
beauvericin  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-D-glucosamine  (ISO)
bisphenol A  (ISO)
bortezomib  (EXP)
butyric acid  (EXP)
C60 fullerene  (ISO)
cadmium sulfate  (EXP)
carbon nanotube  (ISO)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
CU-O LINKAGE  (EXP)
cyclosporin A  (EXP)
D-glucose  (ISO)
dactolisib  (EXP)
DDT  (EXP,ISO)
diarsenic trioxide  (EXP)
dioxygen  (ISO)
doxorubicin  (ISO)
entinostat  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fenvalerate  (ISO)
folic acid  (ISO)
gamma-hexachlorocyclohexane  (ISO)
glucose  (ISO)
hemin  (EXP)
hydralazine  (EXP)
hydrogen peroxide  (EXP)
lamivudine  (EXP)
lipopolysaccharide  (ISO)
menadione  (EXP)
methapyrilene  (ISO)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
Methylazoxymethanol acetate  (ISO)
methylmercury chloride  (EXP)
miconazole  (ISO)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (EXP)
N-(6-acetamidohexyl)acetamide  (EXP)
nefazodone  (ISO)
nicotine  (EXP)
paracetamol  (EXP,ISO)
paracetamol sulfate  (ISO)
PCB138  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
potassium chromate  (EXP)
progesterone  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenate  (ISO)
sodium fluoride  (ISO)
sunitinib  (EXP)
tamibarotene  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
tetraphene  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vincristine  (EXP)
zidovudine  (EXP)
zinc sulfate  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
apoptotic process  (IDA)
cellular response to glucose stimulus  (ISO)
cellular response to insulin stimulus  (ISO)
cellular response to lipopolysaccharide  (ISO)
cellular response to toxic substance  (ISO)
circadian regulation of gene expression  (ISS)
forebrain development  (ISO)
glucosamine metabolic process  (ISO)
histone H3-K4 trimethylation  (IMP)
histone H4-K16 acetylation  (IDA)
histone H4-K5 acetylation  (IDA)
histone H4-K8 acetylation  (IDA)
intracellular distribution of mitochondria  (ISO)
negative regulation of cell death  (ISO)
negative regulation of cellular response to hypoxia  (ISO)
negative regulation of peptidyl-serine phosphorylation  (ISO)
negative regulation of peptidyl-threonine phosphorylation  (ISO)
negative regulation of proteasomal ubiquitin-dependent protein catabolic process  (IMP)
negative regulation of protein phosphorylation  (ISO)
negative regulation of protein targeting to membrane  (ISO)
negative regulation of protein ubiquitination  (IMP,ISS)
phosphatidylinositol-mediated signaling  (IDA)
positive regulation of cell size  (ISO)
positive regulation of cold-induced thermogenesis  (ISS)
positive regulation of gene expression  (ISO)
positive regulation of histone H3-K27 methylation  (IMP)
positive regulation of protein localization to nucleus  (ISO)
positive regulation of protein phosphorylation  (ISO)
positive regulation of proteolysis  (IDA)
positive regulation of reactive oxygen species biosynthetic process  (ISO)
positive regulation of transcription by RNA polymerase II  (IDA,IMP)
protein deubiquitination  (TAS)
protein O-linked glycosylation  (IBA,IDA,IEA,IMP,ISO)
protein processing  (IMP)
regulation of gluconeogenesis  (ISS)
regulation of glycolytic process  (IDA)
regulation of insulin receptor signaling pathway  (IDA)
regulation of necroptotic process  (TAS)
regulation of Rac protein signal transduction  (IDA)
regulation of transcription by RNA polymerase II  (IMP)
response to insulin  (IDA)
response to nutrient  (TAS)
signal transduction  (TAS)

Cellular Component

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

Human Phenotype
References

Additional References at PubMed
PMID:1512232   PMID:1533623   PMID:1730617   PMID:7642555   PMID:8063760   PMID:8076819   PMID:8344946   PMID:8619474   PMID:8639509   PMID:8702840   PMID:8910513   PMID:9083067  
PMID:9083068   PMID:9110174   PMID:9343410   PMID:9499386   PMID:10386995   PMID:10580430   PMID:10753899   PMID:10801981   PMID:11773972   PMID:11846551   PMID:12136128   PMID:12150998  
PMID:12226704   PMID:12373287   PMID:12435728   PMID:12477932   PMID:12504895   PMID:12538765   PMID:12670868   PMID:12724313   PMID:12911634   PMID:14601650   PMID:15336570   PMID:15489334  
PMID:15795231   PMID:15896326   PMID:16105839   PMID:16189514   PMID:16344560   PMID:16434389   PMID:16449650   PMID:16505006   PMID:16966374   PMID:17353931   PMID:17882263   PMID:18029348  
PMID:18174169   PMID:18288188   PMID:18536723   PMID:18653473   PMID:19073609   PMID:19615732   PMID:19932102   PMID:20018852   PMID:20068230   PMID:20190804   PMID:20200153   PMID:20206135  
PMID:20360068   PMID:20479123   PMID:20628624   PMID:20805223   PMID:20805357   PMID:20824293   PMID:20845477   PMID:20876116   PMID:21081666   PMID:21240259   PMID:21285374   PMID:21295698  
PMID:21327254   PMID:21516116   PMID:21567137   PMID:21654808   PMID:21873635   PMID:22072767   PMID:22199357   PMID:22275356   PMID:22294689   PMID:22307082   PMID:22311971   PMID:22371499  
PMID:22384635   PMID:22496241   PMID:22574218   PMID:22658674   PMID:22783592   PMID:22863883   PMID:22883232   PMID:22923583   PMID:22939629   PMID:23088713   PMID:23103939   PMID:23103942  
PMID:23152511   PMID:23184937   PMID:23222540   PMID:23246001   PMID:23352454   PMID:23353889   PMID:23487789   PMID:23629655   PMID:23642195   PMID:23700425   PMID:23720054   PMID:23777819  
PMID:24256146   PMID:24311690   PMID:24365779   PMID:24394411   PMID:24474760   PMID:24550385   PMID:24580054   PMID:24703950   PMID:24928395   PMID:24995978   PMID:25147182   PMID:25173736  
PMID:25332235   PMID:25416956   PMID:25419848   PMID:25517638   PMID:25568311   PMID:25582440   PMID:25609649   PMID:25663381   PMID:25737280   PMID:25773598   PMID:25776937   PMID:25900982  
PMID:25921289   PMID:25959826   PMID:26041297   PMID:26170170   PMID:26186194   PMID:26237509   PMID:26240142   PMID:26252736   PMID:26305326   PMID:26344197   PMID:26397041   PMID:26399441  
PMID:26408091   PMID:26416890   PMID:26419610   PMID:26496610   PMID:26527687   PMID:26638075   PMID:26678539   PMID:26707622   PMID:26807597   PMID:26831064   PMID:26854602   PMID:26871637  
PMID:26949251   PMID:26972000   PMID:27009840   PMID:27060025   PMID:27107014   PMID:27129214   PMID:27131860   PMID:27173435   PMID:27183383   PMID:27217568   PMID:27231347   PMID:27248496  
PMID:27294441   PMID:27331873   PMID:27505673   PMID:27527864   PMID:27591049   PMID:27684187   PMID:27703004   PMID:27705803   PMID:27845045   PMID:28100784   PMID:28115479   PMID:28190767  
PMID:28232487   PMID:28302723   PMID:28347804   PMID:28450392   PMID:28455227   PMID:28514442   PMID:28515276   PMID:28584052   PMID:28611215   PMID:28625484   PMID:28637651   PMID:28663241  
PMID:28675297   PMID:28714959   PMID:28742148   PMID:28929346   PMID:29059153   PMID:29117863   PMID:29208956   PMID:29331416   PMID:29465778   PMID:29474905   PMID:29490077   PMID:29509190  
PMID:29556021   PMID:29577901   PMID:29606577   PMID:29656893   PMID:29735542   PMID:29769320   PMID:29785026   PMID:29788742   PMID:29941490   PMID:29967448   PMID:30021884   PMID:30069701  
PMID:30106436   PMID:30166453   PMID:30196744   PMID:30209976   PMID:30277474   PMID:30404004   PMID:30415952   PMID:30453909   PMID:30463901   PMID:30543776   PMID:30550897   PMID:30555541  
PMID:30587575   PMID:30677218   PMID:30699359   PMID:30804502   PMID:30953348   PMID:30979931   PMID:31010829   PMID:31048545   PMID:31076518   PMID:31091453   PMID:31149037   PMID:31296563  
PMID:31373491   PMID:31373757   PMID:31527085   PMID:31527615   PMID:31567281   PMID:31627256   PMID:31628985   PMID:31753913   PMID:31847126   PMID:31881804   PMID:31974291   PMID:32272438  
PMID:32296183   PMID:32310828   PMID:32416067   PMID:32471715   PMID:32663610   PMID:32694731   PMID:32994395   PMID:33006972   PMID:33215629   PMID:33333092  


Genomics

Comparative Map Data
OGT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX71,533,104 - 71,575,892 (+)EnsemblGRCh38hg38GRCh38
GRCh38X71,533,104 - 71,575,892 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X70,752,954 - 70,795,742 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X70,669,658 - 70,712,465 (+)NCBINCBI36hg18NCBI36
Build 34X70,535,953 - 70,578,761NCBI
CeleraX71,105,953 - 71,148,788 (+)NCBI
Cytogenetic MapXq13.1NCBI
HuRefX64,568,037 - 64,610,949 (+)NCBIHuRef
CHM1_1X70,645,269 - 70,688,159 (+)NCBICHM1_1
Ogt
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X100,683,617 - 100,727,957 (+)NCBIGRCm39mm39
GRCm39 EnsemblX100,683,666 - 100,727,957 (+)Ensembl
GRCm38X101,640,011 - 101,684,351 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX101,640,060 - 101,684,351 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X98,835,403 - 98,879,690 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X97,842,783 - 97,887,068 (+)NCBImm8
CeleraX88,557,707 - 88,602,477 (+)NCBICelera
Cytogenetic MapXDNCBI
Ogt
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X66,771,278 - 66,816,148 (+)NCBI
Rnor_6.0 EnsemblX71,528,988 - 71,585,908 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X71,540,870 - 71,585,906 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X72,390,218 - 72,435,241 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X89,721,369 - 89,766,218 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X89,794,801 - 89,838,207 (+)NCBI
CeleraX67,126,677 - 67,171,365 (+)NCBICelera
Cytogenetic MapXq22NCBI
Ogt
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547511,062,076 - 11,114,169 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495547511,062,258 - 11,112,252 (+)NCBIChiLan1.0ChiLan1.0
OGT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X70,852,687 - 70,894,921 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX70,852,687 - 70,894,921 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X60,798,219 - 60,840,948 (+)NCBIMhudiblu_PPA_v0panPan3
OGT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X55,821,227 - 55,857,597 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX55,821,234 - 55,855,502 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX46,648,032 - 46,684,418 (+)NCBI
ROS_Cfam_1.0X56,790,423 - 56,826,854 (+)NCBI
UMICH_Zoey_3.1X54,757,798 - 54,794,161 (+)NCBI
UNSW_CanFamBas_1.0X56,089,784 - 56,126,154 (+)NCBI
UU_Cfam_GSD_1.0X56,017,174 - 56,053,590 (+)NCBI
Ogt
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X46,337,214 - 46,375,661 (-)NCBI
SpeTri2.0NW_00493676299,335 - 137,833 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OGT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX57,521,097 - 57,558,519 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X57,521,091 - 57,558,467 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X64,962,783 - 65,000,186 (+)NCBISscrofa10.2Sscrofa10.2susScr3
OGT
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X61,351,047 - 61,393,541 (+)NCBI
ChlSab1.1 EnsemblX61,351,054 - 61,394,305 (+)Ensembl
Vero_WHO_p1.0NW_0236660653,211,654 - 3,252,407 (+)NCBI
Ogt
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249031,863,110 - 1,912,299 (+)NCBI

Position Markers
DXS8101  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X70,763,407 - 70,763,681UniSTSGRCh37
Build 36X70,680,132 - 70,680,406RGDNCBI36
CeleraX71,116,448 - 71,116,722RGD
Cytogenetic MapXq13UniSTS
HuRefX64,578,532 - 64,578,806UniSTS
Marshfield Genetic MapX57.37RGD
Marshfield Genetic MapX57.37UniSTS
Genethon Genetic MapX96.4UniSTS
TNG Radiation Hybrid MapX15398.0UniSTS
Whitehead-YAC Contig MapX UniSTS
SHGC-56883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X70,794,303 - 70,794,415UniSTSGRCh37
Build 36X70,711,028 - 70,711,140RGDNCBI36
CeleraX71,147,344 - 71,147,456RGD
Cytogenetic MapXq13UniSTS
HuRefX64,609,505 - 64,609,617UniSTS
TNG Radiation Hybrid MapX15422.0UniSTS
RH1703  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X70,795,347 - 70,795,538UniSTSGRCh37
Build 36X70,712,072 - 70,712,263RGDNCBI36
CeleraX71,148,388 - 71,148,579RGD
Cytogenetic MapXq13UniSTS
HuRefX64,610,549 - 64,610,740UniSTS
GeneMap99-GB4 RH MapX245.7UniSTS
DXS7559E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X70,793,935 - 70,794,003UniSTSGRCh37
Build 36X70,710,660 - 70,710,728RGDNCBI36
CeleraX71,146,976 - 71,147,044RGD
Cytogenetic MapXq13UniSTS
HuRefX64,609,137 - 64,609,205UniSTS
SHGC-16181  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X70,766,604 - 70,766,747UniSTSGRCh37
Build 36X70,683,329 - 70,683,472RGDNCBI36
CeleraX71,119,645 - 71,119,788RGD
Cytogenetic MapXq13UniSTS
HuRefX64,581,729 - 64,581,872UniSTS
GeneMap99-G3 RH MapX2131.0UniSTS
A002Y42  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X70,793,980 - 70,794,096UniSTSGRCh37
Build 36X70,710,705 - 70,710,821RGDNCBI36
CeleraX71,147,021 - 71,147,137RGD
Cytogenetic MapXq13UniSTS
HuRefX64,609,182 - 64,609,298UniSTS
GeneMap99-GB4 RH MapX236.53UniSTS
NCBI RH MapX377.6UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3504
Count of miRNA genes:1179
Interacting mature miRNAs:1476
Transcripts:ENST00000373701, ENST00000373719, ENST00000444774, ENST00000455587, ENST00000459760, ENST00000462638, ENST00000466181, ENST00000472270, ENST00000474633, ENST00000488174, ENST00000498566
Prediction methods:Microtar, Miranda, Pita, Pita,Targetscan, 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 pharyngeal arch
High 1 14 3
Medium 2435 2951 1702 603 1911 444 4356 2183 3646 406 1448 1609 175 1 1204 2788 6 2
Low 3 40 24 21 26 21 1 14 88 13 9 4
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF070560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF147394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF223393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ315767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB857907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA460761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U77413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000373701   ⟹   ENSP00000362805
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,533,123 - 71,573,816 (+)Ensembl
RefSeq Acc Id: ENST00000373719   ⟹   ENSP00000362824
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,533,104 - 71,575,892 (+)Ensembl
RefSeq Acc Id: ENST00000444774   ⟹   ENSP00000399729
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,534,301 - 71,544,624 (+)Ensembl
RefSeq Acc Id: ENST00000455587
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,537,014 - 71,555,214 (+)Ensembl
RefSeq Acc Id: ENST00000459760
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,553,621 - 71,556,778 (+)Ensembl
RefSeq Acc Id: ENST00000462638
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,555,813 - 71,556,968 (+)Ensembl
RefSeq Acc Id: ENST00000466181
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,556,456 - 71,557,047 (+)Ensembl
RefSeq Acc Id: ENST00000472270
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,533,128 - 71,536,657 (+)Ensembl
RefSeq Acc Id: ENST00000474633
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,564,664 - 71,567,973 (+)Ensembl
RefSeq Acc Id: ENST00000488174
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,533,104 - 71,574,655 (+)Ensembl
RefSeq Acc Id: ENST00000498566
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,533,300 - 71,546,280 (+)Ensembl
RefSeq Acc Id: NM_181672   ⟹   NP_858058
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X71,533,104 - 71,575,892 (+)NCBI
GRCh37X70,752,912 - 70,795,747 (+)NCBI
Build 36X70,669,658 - 70,712,465 (+)NCBI Archive
HuRefX64,568,037 - 64,610,949 (+)ENTREZGENE
CHM1_1X70,645,269 - 70,688,159 (+)NCBI
Sequence:
RefSeq Acc Id: NM_181673   ⟹   NP_858059
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X71,533,104 - 71,575,892 (+)NCBI
GRCh37X70,752,912 - 70,795,747 (+)ENTREZGENE
Build 36X70,669,658 - 70,712,465 (+)NCBI Archive
HuRefX64,568,037 - 64,610,949 (+)ENTREZGENE
CHM1_1X70,645,269 - 70,688,159 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029908   ⟹   XP_016885397
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X71,533,105 - 71,575,844 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452467   ⟹   XP_024308235
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X71,533,109 - 71,575,844 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_858058   ⟸   NM_181672
- Peptide Label: isoform 1
- UniProtKB: O15294 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_858059   ⟸   NM_181673
- Peptide Label: isoform 2
- UniProtKB: O15294 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885397   ⟸   XM_017029908
- Peptide Label: isoform X1
- UniProtKB: O15294 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024308235   ⟸   XM_024452467
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000362824   ⟸   ENST00000373719
RefSeq Acc Id: ENSP00000362805   ⟸   ENST00000373701
RefSeq Acc Id: ENSP00000399729   ⟸   ENST00000444774
Protein Domains
TPR_REGION

Promoters
RGD ID:6809086
Promoter ID:HG_KWN:67198
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_181672,   NM_181673,   OTTHUMT00000081848,   OTTHUMT00000081849,   OTTHUMT00000144139
Position:
Human AssemblyChrPosition (strand)Source
Build 36X70,668,826 - 70,669,702 (+)MPROMDB
RGD ID:6809092
Promoter ID:HG_KWN:67199
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:OTTHUMT00000346496
Position:
Human AssemblyChrPosition (strand)Source
Build 36X70,670,551 - 70,671,147 (+)MPROMDB
RGD ID:6809088
Promoter ID:HG_KWN:67200
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000144140
Position:
Human AssemblyChrPosition (strand)Source
Build 36X70,672,716 - 70,673,216 (+)MPROMDB
RGD ID:6809115
Promoter ID:HG_KWN:67201
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:UC004EAC.2,   UC004EAD.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36X70,683,111 - 70,684,327 (+)MPROMDB
RGD ID:6809091
Promoter ID:HG_KWN:67202
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000346495
Position:
Human AssemblyChrPosition (strand)Source
Build 36X70,690,281 - 70,690,781 (+)MPROMDB
RGD ID:6809087
Promoter ID:HG_KWN:67203
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000109912,   OTTHUMT00000109913
Position:
Human AssemblyChrPosition (strand)Source
Build 36X70,691,811 - 70,693,212 (+)MPROMDB
RGD ID:6809090
Promoter ID:HG_KWN:67204
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000346494
Position:
Human AssemblyChrPosition (strand)Source
Build 36X70,700,311 - 70,701,102 (+)MPROMDB
RGD ID:13627428
Promoter ID:EPDNEW_H28989
Type:initiation region
Name:OGT_1
Description:O-linked N-acetylglucosamine transferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X71,533,104 - 71,533,164EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq12-21.1(chrX:67621041-76868590)x2 copy number gain See cases [RCV000052416] ChrX:67621041..76868590 [GRCh38]
ChrX:66840883..76009501 [GRCh37]
ChrX:66757608..76005403 [NCBI36]
ChrX:Xq12-21.1
pathogenic
GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2 copy number gain See cases [RCV000052417] ChrX:68382004..75243150 [GRCh38]
ChrX:67601846..74462985 [GRCh37]
ChrX:67518571..74379710 [NCBI36]
ChrX:Xq12-13.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_181673.2(OGT):c.1012C>T (p.Arg338Cys) single nucleotide variant Malignant melanoma [RCV000073243] ChrX:71556071 [GRCh38]
ChrX:70775921 [GRCh37]
ChrX:70692646 [NCBI36]
ChrX:Xq13.1
not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_181672.3(OGT):c.775G>A (p.Ala259Thr) single nucleotide variant Inborn genetic diseases [RCV000190722]|Intellectual disability, X-linked 106 [RCV000991240] ChrX:71555236 [GRCh38]
ChrX:70775086 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3 copy number gain See cases [RCV000134569] ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3 copy number gain See cases [RCV000142336] ChrX:66445907..78172208 [GRCh38]
ChrX:65665749..77427705 [GRCh37]
ChrX:65582474..77314361 [NCBI36]
ChrX:Xq12-21.1
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.21-q13.3(chrX:56431359-76557419)x1 copy number loss See cases [RCV000143131] ChrX:56431359..76557419 [GRCh38]
ChrX:56457792..75777827 [GRCh37]
ChrX:56474517..75694231 [NCBI36]
ChrX:Xp11.21-q13.3
pathogenic
GRCh38/hg38 Xq13.1(chrX:71071787-71777197)x2 copy number gain See cases [RCV000143302] ChrX:71071787..71777197 [GRCh38]
ChrX:70291637..70997047 [GRCh37]
ChrX:70208362..70913772 [NCBI36]
ChrX:Xq13.1
uncertain significance
GRCh38/hg38 Xq13.1(chrX:71022322-71682982)x2 copy number gain See cases [RCV000143525] ChrX:71022322..71682982 [GRCh38]
ChrX:70242172..70902832 [GRCh37]
ChrX:70158897..70819557 [NCBI36]
ChrX:Xq13.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_181672.3(OGT):c.463-6T>G single nucleotide variant Intellectual disability, X-linked 106 [RCV000492053] ChrX:71544561 [GRCh38]
ChrX:70764411 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_181672.3(OGT):c.762G>T (p.Leu254Phe) single nucleotide variant Intellectual disability, X-linked 106 [RCV000492058] ChrX:71555223 [GRCh38]
ChrX:70775073 [GRCh37]
ChrX:Xq13.1
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1(chrX:70287671-70997047)x3 copy number gain See cases [RCV000511625] ChrX:70287671..70997047 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_181672.3(OGT):c.851G>C (p.Arg284Pro) single nucleotide variant Intellectual disability, X-linked 106 [RCV000492048] ChrX:71555312 [GRCh38]
ChrX:70775162 [GRCh37]
ChrX:Xq13.1
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_181672.3(OGT):c.307G>A (p.Gly103Arg) single nucleotide variant Inborn genetic diseases [RCV000624465] ChrX:71537917 [GRCh38]
ChrX:70757767 [GRCh37]
ChrX:Xq13.1
uncertain significance
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xq13.1(chrX:70287671-70997047)x2 copy number gain See cases [RCV000512522] ChrX:70287671..70997047 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_181672.3(OGT):c.1570G>A (p.Ala524Thr) single nucleotide variant not provided [RCV000512742] ChrX:71557640 [GRCh38]
ChrX:70777490 [GRCh37]
ChrX:Xq13.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_181672.3(OGT):c.762G>C (p.Leu254Phe) single nucleotide variant Intellectual disability, X-linked 106 [RCV000991239] ChrX:71555223 [GRCh38]
ChrX:70775073 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_181672.3(OGT):c.1167-3del deletion not provided [RCV000950034] ChrX:71556946 [GRCh38]
ChrX:70776796 [GRCh37]
ChrX:Xq13.1
likely benign
NM_181672.3(OGT):c.835A>G (p.Ile279Val) single nucleotide variant not provided [RCV000921682] ChrX:71555296 [GRCh38]
ChrX:70775146 [GRCh37]
ChrX:Xq13.1
likely benign
NM_181672.3(OGT):c.1281A>C (p.Ala427=) single nucleotide variant not provided [RCV000893984] ChrX:71557066 [GRCh38]
ChrX:70776916 [GRCh37]
ChrX:Xq13.1
benign
NM_181672.3(OGT):c.349C>T (p.Arg117Cys) single nucleotide variant Intellectual disability, X-linked 106 [RCV000791206] ChrX:71537959 [GRCh38]
ChrX:70757809 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_181672.3(OGT):c.955G>A (p.Ala319Thr) single nucleotide variant Intellectual disability, X-linked 106 [RCV000991241] ChrX:71555984 [GRCh38]
ChrX:70775834 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_181672.3(OGT):c.2266-4del deletion not provided [RCV000841243] ChrX:71563317 [GRCh38]
ChrX:70783167 [GRCh37]
ChrX:Xq13.1
likely benign
NM_181672.3(OGT):c.1016A>G (p.Glu339Gly) single nucleotide variant Intellectual disability, X-linked 106 [RCV000991242] ChrX:71556045 [GRCh38]
ChrX:70775895 [GRCh37]
ChrX:Xq13.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_181672.3(OGT):c.2795C>T (p.Thr932Ile) single nucleotide variant Intellectual disability, X-linked 106 [RCV000850576] ChrX:71567705 [GRCh38]
ChrX:70787555 [GRCh37]
ChrX:Xq13.1
likely pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
NM_181672.3(OGT):c.1942A>T (p.Asn648Tyr) single nucleotide variant Intellectual disability, X-linked 106 [RCV000852378] ChrX:71561865 [GRCh38]
ChrX:70781715 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_181672.3(OGT):c.1320+5T>C single nucleotide variant not provided [RCV000995956] ChrX:71557110 [GRCh38]
ChrX:70776960 [GRCh37]
ChrX:Xq13.1
likely benign
NM_181672.3(OGT):c.2975A>T (p.Lys992Ile) single nucleotide variant not provided [RCV001200507] ChrX:71573628 [GRCh38]
ChrX:70793478 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_181672.3(OGT):c.1879C>T (p.Arg627Cys) single nucleotide variant not specified [RCV001195505] ChrX:71561802 [GRCh38]
ChrX:70781652 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_181672.3(OGT):c.2636C>T (p.Pro879Leu) single nucleotide variant Intellectual disability, X-linked 106 [RCV001199343] ChrX:71567546 [GRCh38]
ChrX:70787396 [GRCh37]
ChrX:Xq13.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_181672.3(OGT):c.420A>T (p.Glu140Asp) single nucleotide variant Intellectual disability, X-linked 106 [RCV001335586] ChrX:71538030 [GRCh38]
ChrX:70757880 [GRCh37]
ChrX:Xq13.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_181672.3(OGT):c.2533T>A (p.Cys845Ser) single nucleotide variant OGT-related X-linked syndromic intellectual disability [RCV001270907] ChrX:71564697 [GRCh38]
ChrX:70784547 [GRCh37]
ChrX:Xq13.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8127 AgrOrtholog
COSMIC OGT COSMIC
Ensembl Genes ENSG00000147162 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000362805 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000362824 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000399729 UniProtKB/TrEMBL
Ensembl Transcript ENST00000373701 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000373719 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000444774 UniProtKB/TrEMBL
  ENST00000488174 ENTREZGENE
Gene3D-CATH 1.25.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000147162 GTEx
HGNC ID HGNC:8127 ENTREZGENE
Human Proteome Map OGT Human Proteome Map
InterPro OGT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OGT/SEC/SPY_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR-contain_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR-like_helical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8473 UniProtKB/Swiss-Prot
NCBI Gene 8473 ENTREZGENE
OMIM 300255 OMIM
  300997 OMIM
PANTHER PTHR44366 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glyco_transf_41 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31914 PharmGKB
PROSITE TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9JZL3_HUMAN UniProtKB/TrEMBL
  O15294 ENTREZGENE, UniProtKB/Swiss-Prot
  Q548W1_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q7Z3K0 UniProtKB/Swiss-Prot
  Q8WWM8 UniProtKB/Swiss-Prot
  Q96CC1 UniProtKB/Swiss-Prot
  Q9UG57 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-05-15 OGT  O-linked N-acetylglucosamine (GlcNAc) transferase  OGT  O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)  Symbol and/or name change 5135510 APPROVED