PGK1 (phosphoglycerate kinase 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: PGK1 (phosphoglycerate kinase 1) Homo sapiens
Analyze
Symbol: PGK1
Name: phosphoglycerate kinase 1
RGD ID: 1353723
HGNC Page HGNC
Description: Exhibits phosphoglycerate kinase activity and protein-disulfide reductase activity. Involved in several processes, including glycolytic process; negative regulation of angiogenesis; and plasminogen activation. Localizes to extracellular space and membrane raft. Implicated in hemolytic anemia and phosphoglycerate kinase 1 deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cell migration-inducing gene 10 protein; epididymis secretory sperm binding protein Li 68p; HEL-S-68p; MGC117307; MGC142128; MGC8947; MIG10; PGKA; primer recognition protein 2; PRP 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100420035   PGK1P1   PGK1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX77,910,739 - 78,129,295 (+)EnsemblGRCh38hg38GRCh38
GRCh38X78,104,248 - 78,129,295 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X77,359,745 - 77,384,792 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X77,246,425 - 77,268,980 (+)NCBINCBI36hg18NCBI36
Build 34X77,165,913 - 77,188,467NCBI
CeleraX77,600,747 - 77,623,405 (+)NCBI
Cytogenetic MapXq21.1NCBI
HuRefX70,945,945 - 70,968,603 (+)NCBIHuRef
CHM1_1X77,252,363 - 77,275,021 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-alpha-tocopherol  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
(Z)-3-butylidenephthalide  (EXP)
1,10-phenanthroline  (EXP)
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
1,4-benzoquinone  (EXP)
17alpha-ethynylestradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-di-tert-butyl-4-methylphenol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
5-chloro-7-iodoquinolin-8-ol  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
alpha-naphthoflavone  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
amphotericin B  (EXP)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenous acid  (EXP)
Azaspiracid  (EXP)
beauvericin  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bromobenzene  (ISO)
buspirone  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbamazepine  (EXP)
carbon nanotube  (EXP,ISO)
chlorohydrocarbon  (ISO)
chloropicrin  (EXP)
cisplatin  (EXP)
clobetasol  (ISO)
clozapine  (ISO)
cobalt dichloride  (EXP,ISO)
cobalt(2+) sulfate  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
decabromodiphenyl ether  (ISO)
delphinidin  (EXP)
desferrioxamine B  (EXP)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dihydroartemisinin  (EXP)
dimercaprol  (EXP)
dioxygen  (EXP,ISO)
diuron  (ISO)
dopamine  (ISO)
doxorubicin  (EXP)
enniatin  (EXP)
enzyme inhibitor  (EXP)
ethanol  (EXP,ISO)
ethyl methanesulfonate  (EXP)
fenoldopam  (ISO)
ferric ammonium citrate  (EXP)
flutamide  (ISO)
folic acid  (EXP,ISO)
formaldehyde  (EXP)
furan  (ISO)
genistein  (EXP,ISO)
gentamycin  (ISO)
glyphosate  (EXP)
graphite  (EXP)
haloperidol  (ISO)
hyaluronic acid  (ISO)
hydrogen peroxide  (EXP,ISO)
lithocholic acid  (EXP)
menadione  (EXP)
methamphetamine  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
miconazole  (ISO)
Monobutylphthalate  (ISO)
motexafin gadolinium  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
nickel atom  (EXP)
nickel dichloride  (EXP,ISO)
nickel sulfate  (EXP,ISO)
ochratoxin A  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (EXP,ISO)
phenylpropanolamine  (ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
prostaglandin A1  (ISO)
quartz  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
Salinomycin  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
Soman  (ISO)
sunitinib  (EXP)
T-2 toxin  (ISO)
tamoxifen  (ISO)
Tesaglitazar  (ISO)
tetraethylenepentamine  (EXP)
thapsigargin  (EXP)
thimerosal  (EXP)
trimellitic anhydride  (ISO)
trovafloxacin  (ISO)
tungsten  (ISO)
tunicamycin  (EXP)
undecane  (ISO)
valproic acid  (EXP)
vandetanib  (EXP)
vitamin E  (EXP)
vorinostat  (EXP)
Yessotoxin  (EXP)
zearalenone  (ISO)
zinc acetate  (EXP)
zinc atom  (EXP)
zinc dichloride  (EXP)
zinc sulfate  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1533225   PMID:1547346   PMID:1586722   PMID:1602151   PMID:1837552   PMID:2001457   PMID:2324090   PMID:2347494   PMID:2814502   PMID:2995995   PMID:3453121   PMID:5009693  
PMID:6099325   PMID:6188151   PMID:6933565   PMID:6941312   PMID:7391027   PMID:7391028   PMID:7440217   PMID:7892275   PMID:8043870   PMID:8075252   PMID:8089148   PMID:8122886  
PMID:8615693   PMID:8673469   PMID:8889548   PMID:9023984   PMID:9075577   PMID:9308888   PMID:9744480   PMID:10720297   PMID:11130727   PMID:11487543   PMID:11745195   PMID:12080078  
PMID:12174867   PMID:12477932   PMID:12488440   PMID:12869554   PMID:14733918   PMID:14764427   PMID:15053920   PMID:15161933   PMID:15255553   PMID:15489334   PMID:15592455   PMID:15952740  
PMID:16009940   PMID:16236267   PMID:16263121   PMID:16363799   PMID:16567715   PMID:17043677   PMID:17081983   PMID:17148452   PMID:17565005   PMID:17661373   PMID:18039033   PMID:18096512  
PMID:18288812   PMID:18453750   PMID:18540639   PMID:18603805   PMID:19110265   PMID:19135240   PMID:19199708   PMID:19688824   PMID:19738201   PMID:19778949   PMID:19854185   PMID:19946888  
PMID:20000738   PMID:20068185   PMID:20360068   PMID:20391533   PMID:20392205   PMID:20458337   PMID:20562859   PMID:20849852   PMID:21081666   PMID:21145461   PMID:21319273   PMID:21349332  
PMID:21349853   PMID:21492153   PMID:21505655   PMID:21549683   PMID:21565611   PMID:21780947   PMID:21873635   PMID:22079093   PMID:22145905   PMID:22348148   PMID:22586326   PMID:22619369  
PMID:22742733   PMID:22939629   PMID:23130662   PMID:23166591   PMID:23336698   PMID:23376485   PMID:23533145   PMID:23684636   PMID:23703321   PMID:23727790   PMID:23824909   PMID:23991099  
PMID:24284928   PMID:24337577   PMID:24376734   PMID:24711643   PMID:24721582   PMID:24838780   PMID:24934115   PMID:24999758   PMID:25147182   PMID:25175369   PMID:25192599   PMID:25204797  
PMID:25315684   PMID:25324306   PMID:25665578   PMID:25867275   PMID:25921289   PMID:25959826   PMID:25963833   PMID:25982273   PMID:26030842   PMID:26217791   PMID:26344197   PMID:26356530  
PMID:26396085   PMID:26496610   PMID:26510737   PMID:26598620   PMID:26618866   PMID:26638075   PMID:26641092   PMID:26831064   PMID:26942675   PMID:27342126   PMID:27342824   PMID:27375898  
PMID:27576135   PMID:27591049   PMID:27684187   PMID:27751915   PMID:28238651   PMID:28302793   PMID:28330616   PMID:28443643   PMID:28457968   PMID:28514442   PMID:28515276   PMID:28581483  
PMID:28749413   PMID:28763863   PMID:28923857   PMID:29117863   PMID:29128334   PMID:29199648   PMID:29467282   PMID:29507755   PMID:29509190   PMID:29704455   PMID:29715546   PMID:29845934  
PMID:29995887   PMID:30029001   PMID:30033366   PMID:30111548   PMID:30392930   PMID:30455355   PMID:30471866   PMID:30537744   PMID:30559450   PMID:30575818   PMID:30809309   PMID:30887539  
PMID:30890647   PMID:30925862   PMID:30948266   PMID:30951021   PMID:31091453   PMID:31180492   PMID:31222833   PMID:31405213   PMID:31424298   PMID:31436131   PMID:31492635   PMID:31501420  
PMID:31536960   PMID:31578148   PMID:31586073   PMID:31594818   PMID:31649264   PMID:31767834   PMID:31827081   PMID:31938050   PMID:31980649   PMID:32203420   PMID:32249768   PMID:32416067  
PMID:32529326   PMID:32786267  


Genomics

Comparative Map Data
PGK1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX77,910,739 - 78,129,295 (+)EnsemblGRCh38hg38GRCh38
GRCh38X78,104,248 - 78,129,295 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X77,359,745 - 77,384,792 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X77,246,425 - 77,268,980 (+)NCBINCBI36hg18NCBI36
Build 34X77,165,913 - 77,188,467NCBI
CeleraX77,600,747 - 77,623,405 (+)NCBI
Cytogenetic MapXq21.1NCBI
HuRefX70,945,945 - 70,968,603 (+)NCBIHuRef
CHM1_1X77,252,363 - 77,275,021 (+)NCBICHM1_1
Pgk1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X105,230,706 - 105,247,305 (+)NCBIGRCm39mm39
GRCm39 EnsemblX105,230,706 - 105,247,305 (+)Ensembl
GRCm38X106,187,100 - 106,203,699 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX106,187,100 - 106,203,699 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X103,382,463 - 103,399,038 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X102,389,843 - 102,406,418 (+)NCBImm8
CeleraX93,040,533 - 93,057,028 (+)NCBICelera
Cytogenetic MapXDNCBI
cM MapX47.36NCBI
Pgk1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X71,271,454 - 71,287,429 (+)NCBI
Rnor_6.0 EnsemblX77,263,359 - 77,279,367 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X77,263,399 - 77,279,373 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X56,383,459 - 56,399,433 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X94,324,219 - 94,340,193 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X94,397,574 - 94,413,625 (+)NCBI
CeleraX72,583,654 - 72,599,628 (+)NCBICelera
Cytogenetic MapXq22NCBI
Pgk1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555571,566,534 - 1,584,799 (+)NCBIChiLan1.0ChiLan1.0
PGK1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X77,391,639 - 77,413,786 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX77,391,805 - 77,414,459 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X67,280,269 - 67,302,307 (+)NCBIMhudiblu_PPA_v0panPan3
PGK1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X60,374,743 - 60,396,244 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX60,374,754 - 60,423,947 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX51,387,842 - 51,409,348 (+)NCBI
ROS_Cfam_1.0X61,613,473 - 61,634,977 (+)NCBI
UMICH_Zoey_3.1X59,319,607 - 59,341,115 (+)NCBI
UNSW_CanFamBas_1.0X60,929,381 - 60,951,098 (+)NCBI
UU_Cfam_GSD_1.0X60,517,684 - 60,539,186 (+)NCBI
Pgk1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X53,965,864 - 53,989,650 (+)NCBI
SpeTri2.0NW_004936547286,267 - 310,062 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PGK1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX62,187,431 - 62,212,244 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X62,187,472 - 62,210,321 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X71,339,754 - 71,351,768 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig CytomapXq1.2NCBI
PGK1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X67,072,029 - 67,093,881 (+)NCBI
Pgk1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248362,657,320 - 2,676,124 (-)NCBI

Position Markers
WI-19211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,381,419 - 77,381,696UniSTSGRCh37
GRCh37X67,289,993 - 67,290,270UniSTSGRCh37
Build 36X67,206,718 - 67,206,995RGDNCBI36
CeleraX67,641,473 - 67,641,750RGD
CeleraX77,622,500 - 77,622,777UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq13.3UniSTS
HuRefX61,119,252 - 61,119,529UniSTS
HuRefX70,967,698 - 70,967,975UniSTS
GeneMap99-GB4 RH MapX246.1UniSTS
Whitehead-RH MapX211.1UniSTS
RH79992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,381,510 - 77,381,707UniSTSGRCh37
GRCh37X67,289,982 - 67,290,179UniSTSGRCh37
Build 36X67,206,707 - 67,206,904RGDNCBI36
CeleraX77,622,591 - 77,622,788UniSTS
CeleraX67,641,462 - 67,641,659RGD
Cytogenetic MapXq13.3UniSTS
Cytogenetic MapXq12UniSTS
HuRefX70,967,789 - 70,967,986UniSTS
HuRefX61,119,241 - 61,119,438UniSTS
RH103161  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,381,819 - 77,381,898UniSTSGRCh37
Build 36X77,268,475 - 77,268,554RGDNCBI36
CeleraX77,622,900 - 77,622,979RGD
Cytogenetic MapXq13.3UniSTS
HuRefX70,968,098 - 70,968,177UniSTS
GeneMap99-GB4 RH MapX248.47UniSTS
RH122374  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,380,692 - 77,380,888UniSTSGRCh37
Build 36X77,267,348 - 77,267,544RGDNCBI36
CeleraX77,621,773 - 77,621,969RGD
Cytogenetic MapXq13.3UniSTS
HuRefX70,966,971 - 70,967,167UniSTS
TNG Radiation Hybrid Map59555.0UniSTS
GDB:181567  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,381,371 - 77,381,683UniSTSGRCh37
GRCh37X67,290,006 - 67,290,318UniSTSGRCh37
Build 36X67,206,731 - 67,207,043RGDNCBI36
CeleraX77,622,452 - 77,622,764UniSTS
CeleraX67,641,486 - 67,641,798RGD
Cytogenetic MapXq13.3UniSTS
Cytogenetic MapXq12UniSTS
HuRefX70,967,650 - 70,967,962UniSTS
HuRefX61,119,265 - 61,119,577UniSTS
GDB:186156  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,359,744 - 77,360,078UniSTSGRCh37
Build 36X77,246,400 - 77,246,734RGDNCBI36
CeleraX77,600,825 - 77,601,159RGD
Cytogenetic MapXq13.3UniSTS
HuRefX70,946,023 - 70,946,357UniSTS
RH36157  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,381,390 - 77,381,505UniSTSGRCh37
GRCh37X67,290,184 - 67,290,299UniSTSGRCh37
Build 36X67,206,909 - 67,207,024RGDNCBI36
CeleraX67,641,664 - 67,641,779RGD
CeleraX77,622,471 - 77,622,586UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq13.3UniSTS
HuRefX61,119,443 - 61,119,558UniSTS
HuRefX70,967,669 - 70,967,784UniSTS
GeneMap99-GB4 RH MapX245.81UniSTS
NCBI RH MapX355.3UniSTS
DXS7497  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,381,390 - 77,381,510UniSTSGRCh37
GRCh37X67,290,179 - 67,290,299UniSTSGRCh37
Build 36X67,206,904 - 67,207,024RGDNCBI36
CeleraX67,641,659 - 67,641,779RGD
CeleraX77,622,471 - 77,622,591UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq13.3UniSTS
HuRefX61,119,438 - 61,119,558UniSTS
HuRefX70,967,669 - 70,967,789UniSTS
Whitehead-YAC Contig MapX UniSTS
STS-AA069778  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,381,910 - 77,382,066UniSTSGRCh37
Build 36X77,268,566 - 77,268,722RGDNCBI36
CeleraX77,622,991 - 77,623,147RGD
Cytogenetic MapXq13.3UniSTS
HuRefX70,968,189 - 70,968,345UniSTS
GeneMap99-GB4 RH MapX246.55UniSTS
DXS6983E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,381,496 - 77,381,628UniSTSGRCh37
Build 36X77,268,152 - 77,268,284RGDNCBI36
CeleraX77,622,577 - 77,622,709RGD
Cytogenetic MapXq13.3UniSTS
HuRefX70,967,775 - 70,967,907UniSTS
GeneMap99-GB4 RH MapX247.56UniSTS
RH10979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X77,381,455 - 77,381,631UniSTSGRCh37
GRCh37X67,290,058 - 67,290,234UniSTSGRCh37
Build 36X67,206,783 - 67,206,959RGDNCBI36
CeleraX67,641,538 - 67,641,714RGD
CeleraX77,622,536 - 77,622,712UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq13.3UniSTS
HuRefX61,119,317 - 61,119,493UniSTS
HuRefX70,967,734 - 70,967,910UniSTS
GeneMap99-GB4 RH MapX245.48UniSTS
NCBI RH MapX357.4UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3650
Count of miRNA genes:1305
Interacting mature miRNAs:1688
Transcripts:ENST00000373316, ENST00000442431, ENST00000474281, ENST00000476531, ENST00000477335, ENST00000491291, ENST00000537456
Prediction methods:Microtar, Miranda, Pita, 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 adipose tissue appendage entire extraembryonic component
High 4 2 2 242 2 8 4 7 14 36 21 1
Medium 2428 2952 1710 610 1706 452 4347 2157 3677 402 1412 1586 170 1204 2788 4
Low 32 11 10 10 32 24 2 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB062432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY423725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC103752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU677171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS037197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D28371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC336483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB957644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HD015054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M34017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN108260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S75476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S81916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  V00572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000373316   ⟹   ENSP00000362413
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX78,104,248 - 78,129,295 (+)Ensembl
RefSeq Acc Id: ENST00000474281
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX78,122,839 - 78,123,338 (+)Ensembl
RefSeq Acc Id: ENST00000476531
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX78,124,944 - 78,126,267 (+)Ensembl
RefSeq Acc Id: ENST00000477335
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX78,065,188 - 78,113,844 (+)Ensembl
RefSeq Acc Id: ENST00000491291
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX78,065,216 - 78,122,903 (+)Ensembl
RefSeq Acc Id: ENST00000644362   ⟹   ENSP00000496140
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX77,910,739 - 78,126,949 (+)Ensembl
RefSeq Acc Id: NM_000291   ⟹   NP_000282
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X78,104,248 - 78,129,295 (+)NCBI
GRCh37X77,359,666 - 77,382,324 (+)ENTREZGENE
GRCh37X77,359,666 - 77,382,324 (+)NCBI
Build 36X77,246,425 - 77,268,980 (+)NCBI Archive
HuRefX70,945,945 - 70,968,603 (+)ENTREZGENE
CHM1_1X77,252,363 - 77,275,021 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000282 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA60078 (Get FASTA)   NCBI Sequence Viewer  
  AAA60079 (Get FASTA)   NCBI Sequence Viewer  
  AAA60103 (Get FASTA)   NCBI Sequence Viewer  
  AAB36381 (Get FASTA)   NCBI Sequence Viewer  
  AAH23234 (Get FASTA)   NCBI Sequence Viewer  
  AAI03753 (Get FASTA)   NCBI Sequence Viewer  
  AAI04838 (Get FASTA)   NCBI Sequence Viewer  
  AAI13569 (Get FASTA)   NCBI Sequence Viewer  
  AAO88093 (Get FASTA)   NCBI Sequence Viewer  
  AAS00488 (Get FASTA)   NCBI Sequence Viewer  
  ACJ13699 (Get FASTA)   NCBI Sequence Viewer  
  BAA05737 (Get FASTA)   NCBI Sequence Viewer  
  BAB93495 (Get FASTA)   NCBI Sequence Viewer  
  BAF83770 (Get FASTA)   NCBI Sequence Viewer  
  BAG35209 (Get FASTA)   NCBI Sequence Viewer  
  BAG58074 (Get FASTA)   NCBI Sequence Viewer  
  BAG58187 (Get FASTA)   NCBI Sequence Viewer  
  BAG60978 (Get FASTA)   NCBI Sequence Viewer  
  BAG63115 (Get FASTA)   NCBI Sequence Viewer  
  BAG64791 (Get FASTA)   NCBI Sequence Viewer  
  BAH13545 (Get FASTA)   NCBI Sequence Viewer  
  CAA23835 (Get FASTA)   NCBI Sequence Viewer  
  CAG32997 (Get FASTA)   NCBI Sequence Viewer  
  CAI63840 (Get FASTA)   NCBI Sequence Viewer  
  CBG13427 (Get FASTA)   NCBI Sequence Viewer  
  CBV26941 (Get FASTA)   NCBI Sequence Viewer  
  EAW98602 (Get FASTA)   NCBI Sequence Viewer  
  EAW98603 (Get FASTA)   NCBI Sequence Viewer  
  EAW98604 (Get FASTA)   NCBI Sequence Viewer  
  P00558 (Get FASTA)   NCBI Sequence Viewer  
  QEG79134 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000282   ⟸   NM_000291
- UniProtKB: P00558 (UniProtKB/Swiss-Prot),   V9HWF4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000362413   ⟸   ENST00000373316
RefSeq Acc Id: ENSP00000496140   ⟸   ENST00000644362

Promoters
RGD ID:6809139
Promoter ID:HG_KWN:67335
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:OTTHUMT00000057310,   UC010NLZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X77,246,061 - 77,246,561 (+)MPROMDB
RGD ID:6813829
Promoter ID:HG_ACW:84398
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:PGK1.JAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36X77,247,006 - 77,247,506 (+)MPROMDB
RGD ID:6809113
Promoter ID:HG_KWN:67336
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000057311
Position:
Human AssemblyChrPosition (strand)Source
Build 36X77,264,641 - 77,265,492 (+)MPROMDB
RGD ID:6809114
Promoter ID:HG_KWN:67337
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000057314
Position:
Human AssemblyChrPosition (strand)Source
Build 36X77,266,636 - 77,267,487 (+)MPROMDB
RGD ID:6813830
Promoter ID:HG_ACW:84400
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:PGK1.LAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36X77,268,921 - 77,269,421 (+)MPROMDB
RGD ID:13627506
Promoter ID:EPDNEW_H29028
Type:initiation region
Name:PGK1_1
Description:phosphoglycerate kinase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X78,104,248 - 78,104,308EPDNEW
RGD ID:6849826
Promoter ID:EP30017
Type:multiple initiation site
Name:HS_PGK1
Description:Phosphoglycerate kinase 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:housekeeping gene
Experiment Methods:Nuclease protection; Primer extension; NEDO full length human cDNA sequencing project.; Oligo-capping
Position:No map positions available.

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000291.4(PGK1):c.872A>G (p.Lys291Arg) single nucleotide variant Phosphoglycerate kinase 1 deficiency [RCV001000767]|not provided [RCV000521761] ChrX:78123310 [GRCh38]
ChrX:77378807 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_000291.4(PGK1):c.802G>A (p.Asp268Asn) single nucleotide variant Phosphoglycerate kinase 1 deficiency [RCV000010620] ChrX:78123240 [GRCh38]
ChrX:77378737 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_000291.4(PGK1):c.617G>C (p.Arg206Pro) single nucleotide variant Phosphoglycerate kinase 1 deficiency [RCV000010621] ChrX:78118146 [GRCh38]
ChrX:77373643 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_000291.4(PGK1):c.796_798delinsATG (p.Val266Met) indel Phosphoglycerate kinase 1 deficiency [RCV000010622] ChrX:78123234..78123236 [GRCh38]
ChrX:77378731..77378733 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_000291.4(PGK1):c.1055C>A (p.Thr352Asn) single nucleotide variant Phosphoglycerate kinase electrophoretic variant PGK II [RCV000010623] ChrX:78124992 [GRCh38]
ChrX:77380489 [GRCh37]
ChrX:Xq21.1
other
NM_000291.4(PGK1):c.263T>C (p.Leu88Pro) single nucleotide variant Phosphoglycerate kinase 1 deficiency [RCV000010624] ChrX:78113890 [GRCh38]
ChrX:77369387 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_000291.4(PGK1):c.473G>T (p.Gly158Val) single nucleotide variant Phosphoglycerate kinase 1 deficiency [RCV000010625] ChrX:78117367 [GRCh38]
ChrX:77372864 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_000291.4(PGK1):c.736A>G (p.Lys246Glu) single nucleotide variant not provided [RCV000722278] ChrX:78122929 [GRCh38]
ChrX:77378426 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_000291.4(PGK1):c.906_936+12del deletion not provided [RCV000723188] ChrX:78123344..78123386 [GRCh38]
ChrX:77378841..77378883 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_000291.4(PGK1):c.946T>C (p.Cys316Arg) single nucleotide variant Phosphoglycerate kinase 1 deficiency [RCV000010626] ChrX:78124883 [GRCh38]
ChrX:77380380 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) single nucleotide variant Phosphoglycerate kinase 1 deficiency [RCV000010628] ChrX:78123196 [GRCh38]
ChrX:77378693 [GRCh37]
ChrX:Xq21.1
pathogenic|likely pathogenic
NM_000291.4(PGK1):c.854A>T (p.Asp285Val) single nucleotide variant Phosphoglycerate kinase 1 deficiency [RCV000010629] ChrX:78123292 [GRCh38]
ChrX:77378789 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_000291.4(PGK1):c.140T>A (p.Ile47Asn) single nucleotide variant Phosphoglycerate kinase 1 deficiency [RCV000010630] ChrX:78113767 [GRCh38]
ChrX:77369264 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_000291.4(PGK1):c.959G>A (p.Ser320Asn) single nucleotide variant Phosphoglycerate kinase 1 deficiency [RCV000010631] ChrX:78124896 [GRCh38]
ChrX:77380393 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_000291.4(PGK1):c.491A>T (p.Asp164Val) single nucleotide variant Phosphoglycerate kinase 1 deficiency [RCV000010632] ChrX:78117385 [GRCh38]
ChrX:77372882 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_000291.4(PGK1):c.1132A>C (p.Thr378Pro) single nucleotide variant Phosphoglycerate kinase 1 deficiency [RCV000010634] ChrX:78125344 [GRCh38]
ChrX:77380841 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_000291.4(PGK1):c.571_573AAG[1] (p.Lys192del) microsatellite Phosphoglycerate kinase 1 deficiency [RCV000010627] ChrX:78118099..78118101 [GRCh38]
ChrX:77373596..77373598 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_000291.4(PGK1):c.756+5G>A single nucleotide variant Phosphoglycerate kinase 1 deficiency [RCV000010633] ChrX:78122954 [GRCh38]
ChrX:77378451 [GRCh37]
ChrX:Xq21.1
pathogenic
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:10679-156022206)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)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 Xq21.1(chrX:77784830-78691660)x2 copy number gain See cases [RCV000050671] ChrX:77784830..78691660 [GRCh38]
ChrX:77040316..77947157 [GRCh37]
ChrX:76926972..77833813 [NCBI36]
ChrX:Xq21.1
pathogenic
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 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23
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 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
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
GRCh38/hg38 Xq21.1(chrX:77829855-78514258)x3 copy number gain See cases [RCV000054212] ChrX:77829855..78514258 [GRCh38]
ChrX:77085352..77769755 [GRCh37]
ChrX:76972008..77656411 [NCBI36]
ChrX:Xq21.1
uncertain significance
NM_000291.4(PGK1):c.248T>C (p.Val83Ala) single nucleotide variant Phosphoglycerate kinase 1 deficiency [RCV000660376] ChrX:78113875 [GRCh38]
ChrX:77369372 [GRCh37]
ChrX:Xq21.1
uncertain significance
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
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)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: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: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)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: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 Xq21.1(chrX:78111751-78408833)x2 copy number gain See cases [RCV000134061] ChrX:78111751..78408833 [GRCh38]
ChrX:77450503..77664330 [GRCh37]
ChrX:77253904..77550986 [NCBI36]
ChrX:Xq21.1
uncertain significance
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 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
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 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
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-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-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 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
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 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 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 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
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 Xq21.1(chrX:78111751-78286034)x3 copy number gain See cases [RCV000138789] ChrX:78111751..78286034 [GRCh38]
ChrX:77450503..77541531 [GRCh37]
ChrX:77253904..77428187 [NCBI36]
ChrX:Xq21.1
uncertain significance
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 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 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-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 Xq21.1(chrX:78031438-79093211)x3 copy number gain See cases [RCV000143042] ChrX:78031438..79093211 [GRCh38]
ChrX:77286936..78348708 [GRCh37]
ChrX:77173592..78235364 [NCBI36]
ChrX:Xq21.1
uncertain significance
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 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
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 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
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
NM_000291.4(PGK1):c.639C>T (p.Gly213=) single nucleotide variant not provided [RCV000492963] ChrX:78118168 [GRCh38]
ChrX:77373665 [GRCh37]
ChrX:Xq21.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000291.4(PGK1):c.1114G>A (p.Gly372Ser) single nucleotide variant not provided [RCV000153694] ChrX:78125051 [GRCh38]
ChrX:77380548 [GRCh37]
ChrX:Xq21.1
uncertain significance
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 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: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 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:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [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 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [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 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [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 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
NM_000291.4(PGK1):c.791A>C (p.Lys264Thr) single nucleotide variant not provided [RCV000521562] ChrX:78123229 [GRCh38]
ChrX:77378726 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_000291.4(PGK1):c.1105A>C (p.Thr369Pro) single nucleotide variant not provided [RCV000281023] ChrX:78125042 [GRCh38]
ChrX:77380539 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_000291.4(PGK1):c.1243A>G (p.Ser415Gly) single nucleotide variant not provided [RCV000523916] ChrX:78125819 [GRCh38]
ChrX:77381316 [GRCh37]
ChrX:Xq21.1
uncertain significance
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
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_000291.4(PGK1):c.461T>C (p.Leu154Pro) single nucleotide variant not provided [RCV000593674] ChrX:78117355 [GRCh38]
ChrX:77372852 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_000291.4(PGK1):c.1234G>A (p.Asp412Asn) single nucleotide variant Phosphoglycerate kinase 1 deficiency [RCV000764881]|not provided [RCV000585073] ChrX:78125810 [GRCh38]
ChrX:77381307 [GRCh37]
ChrX:Xq21.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000291.4(PGK1):c.116G>A (p.Arg39Lys) single nucleotide variant not provided [RCV000722949] ChrX:78109917 [GRCh38]
ChrX:77365414 [GRCh37]
ChrX:Xq21.1
uncertain significance
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:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000291.4(PGK1):c.917G>T (p.Gly306Val) single nucleotide variant Profound global developmental delay [RCV000449521] ChrX:78123355 [GRCh38]
ChrX:77378852 [GRCh37]
ChrX:Xq21.1
uncertain significance
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 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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [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 Xq13.1-21.1(chrX:71316395-84337550)x3 copy number gain See cases [RCV000447565] ChrX:71316395..84337550 [GRCh37]
ChrX:Xq13.1-21.1
uncertain significance
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
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:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000291.4(PGK1):c.185G>A (p.Ser62Asn) single nucleotide variant not provided [RCV000417927] ChrX:78113812 [GRCh38]
ChrX:77369309 [GRCh37]
ChrX:Xq21.1
likely 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: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 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
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 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000291.4(PGK1):c.326C>T (p.Ala109Val) single nucleotide variant not provided [RCV000497899] ChrX:78114069 [GRCh38]
ChrX:77369566 [GRCh37]
ChrX:Xq21.1
uncertain significance
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
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 Xq21.1(chrX:77212971-77537309)x3 copy number gain See cases [RCV000511566] ChrX:77212971..77537309 [GRCh37]
ChrX:Xq21.1
uncertain significance
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 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
pathogenic
NM_000291.4(PGK1):c.931T>G (p.Trp311Gly) single nucleotide variant Inborn genetic diseases [RCV000623015] ChrX:78123369 [GRCh38]
ChrX:77378866 [GRCh37]
ChrX:Xq21.1
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
NM_000291.4(PGK1):c.937-17dup duplication not provided [RCV000675384] ChrX:78124854..78124855 [GRCh38]
ChrX:77380351..77380352 [GRCh37]
ChrX:Xq21.1
likely benign
NM_000291.4(PGK1):c.936+5G>A single nucleotide variant not provided [RCV000658222] ChrX:78123379 [GRCh38]
ChrX:77378876 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_000291.4(PGK1):c.522-24C>T single nucleotide variant not provided [RCV000675383] ChrX:78118027 [GRCh38]
ChrX:77373524 [GRCh37]
ChrX:Xq21.1
benign
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 Xq21.1(chrX:76820808-78113526)x3 copy number gain not provided [RCV000684349] ChrX:76820808..78113526 [GRCh37]
ChrX:Xq21.1
likely pathogenic
GRCh37/hg19 Xq21.1(chrX:76902857-77454045)x2 copy number gain not provided [RCV000684350] ChrX:76902857..77454045 [GRCh37]
ChrX:Xq21.1
pathogenic
GRCh37/hg19 Xq21.1(chrX:77259796-77537309)x2 copy number gain not provided [RCV000684351] ChrX:77259796..77537309 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xq21.1(chrX:77259796-77537309)x3 copy number gain not provided [RCV000684352] ChrX:77259796..77537309 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
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:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
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:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
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
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
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
NM_000291.4(PGK1):c.390G>A (p.Gly130=) single nucleotide variant not provided [RCV000976592] ChrX:78114133 [GRCh38]
ChrX:77369630 [GRCh37]
ChrX:Xq21.1
benign
NM_000291.4(PGK1):c.539A>G (p.Asn180Ser) single nucleotide variant not provided [RCV000899882] ChrX:78118068 [GRCh38]
ChrX:77373565 [GRCh37]
ChrX:Xq21.1
benign
NM_000291.4(PGK1):c.757-9C>T single nucleotide variant not provided [RCV000907943] ChrX:78123186 [GRCh38]
ChrX:77378683 [GRCh37]
ChrX:Xq21.1
likely benign
NM_000291.4(PGK1):c.1188T>A (p.Gly396=) single nucleotide variant not provided [RCV000916997] ChrX:78125400 [GRCh38]
ChrX:77380897 [GRCh37]
ChrX:Xq21.1
likely benign|conflicting interpretations of pathogenicity
NM_000291.4(PGK1):c.832G>A (p.Val278Met) single nucleotide variant not provided [RCV000980852] ChrX:78123270 [GRCh38]
ChrX:77378767 [GRCh37]
ChrX:Xq21.1
likely benign
NM_000291.4(PGK1):c.89A>C (p.Lys30Thr) single nucleotide variant Male infertility due to obstructive azoospermia [RCV000767230] ChrX:78109890 [GRCh38]
ChrX:77365387 [GRCh37]
ChrX:Xq21.1
likely pathogenic
NM_000291.4(PGK1):c.909G>C (p.Val303=) single nucleotide variant not provided [RCV000976593] ChrX:78123347 [GRCh38]
ChrX:77378844 [GRCh37]
ChrX:Xq21.1
benign
NM_000291.4(PGK1):c.1213+92G>A single nucleotide variant not provided [RCV000826623] ChrX:78125517 [GRCh38]
ChrX:77381014 [GRCh37]
ChrX:Xq21.1
benign
NM_000291.4(PGK1):c.642-66T>G single nucleotide variant not provided [RCV000826621] ChrX:78122769 [GRCh38]
ChrX:77378266 [GRCh37]
ChrX:Xq21.1
benign
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 Xq13.3-21.31(chrX:74667077-90312981)x1 copy number loss not provided [RCV000847338] ChrX:74667077..90312981 [GRCh37]
ChrX:Xq13.3-21.31
pathogenic
NC_000023.11:g.78118027C>T single nucleotide variant not provided [RCV000826620] ChrX:77373524 [GRCh37]
ChrX:Xq21.1
benign
NM_000291.4(PGK1):c.1213+80A>G single nucleotide variant not provided [RCV000826622] ChrX:78125505 [GRCh38]
ChrX:77381002 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xq21.1(chrX:76707749-77398963)x2 copy number gain not provided [RCV001007316] ChrX:76707749..77398963 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_000291.4(PGK1):c.1048C>T (p.Arg350Trp) single nucleotide variant not provided [RCV000828361] ChrX:78124985 [GRCh38]
ChrX:77380482 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NC_000023.11:g.78103825G>A single nucleotide variant not provided [RCV000843677] ChrX:78103825 [GRCh38]
ChrX:77359322 [GRCh37]
ChrX:Xq21.1
benign
NM_000291.4(PGK1):c.521+318A>G single nucleotide variant not provided [RCV000843679] ChrX:78117733 [GRCh38]
ChrX:77373230 [GRCh37]
ChrX:Xq21.1
benign
NM_000291.4(PGK1):c.937-294A>G single nucleotide variant not provided [RCV000843681] ChrX:78124580 [GRCh38]
ChrX:77380077 [GRCh37]
ChrX:Xq21.1
benign
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
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 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000291.4(PGK1):c.240A>G (p.Pro80=) single nucleotide variant not provided [RCV000931103] ChrX:78113867 [GRCh38]
ChrX:77369364 [GRCh37]
ChrX:Xq21.1
likely benign
NM_000291.4(PGK1):c.171G>A (p.Ser57=) single nucleotide variant not provided [RCV000888884] ChrX:78113798 [GRCh38]
ChrX:77369295 [GRCh37]
ChrX:Xq21.1
benign
NM_000291.4(PGK1):c.1122A>G (p.Gly374=) single nucleotide variant not provided [RCV000932181] ChrX:78125334 [GRCh38]
ChrX:77380831 [GRCh37]
ChrX:Xq21.1
likely benign
NM_000291.4(PGK1):c.846G>C (p.Leu282Phe) single nucleotide variant not provided [RCV000889414] ChrX:78123284 [GRCh38]
ChrX:77378781 [GRCh37]
ChrX:Xq21.1
benign
NM_000291.4(PGK1):c.978G>A (p.Glu326=) single nucleotide variant not provided [RCV000912357] ChrX:78124915 [GRCh38]
ChrX:77380412 [GRCh37]
ChrX:Xq21.1
likely benign
NM_000291.4(PGK1):c.1072G>A (p.Glu358Lys) single nucleotide variant Phosphoglycerate kinase 1 deficiency [RCV000990885] ChrX:78125009 [GRCh38]
ChrX:77380506 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_000291.4(PGK1):c.892A>G (p.Thr298Ala) single nucleotide variant Phosphoglycerate kinase 1 deficiency [RCV001001106] ChrX:78123330 [GRCh38]
ChrX:77378827 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_000291.4(PGK1):c.238C>T (p.Pro80Ser) single nucleotide variant Phosphoglycerate kinase 1 deficiency [RCV001250051] ChrX:78113865 [GRCh38]
ChrX:77369362 [GRCh37]
ChrX:Xq21.1
likely benign
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8896 AgrOrtholog
COSMIC PGK1 COSMIC
Ensembl Genes ENSG00000102144 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000362413 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000496140 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000373316 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000644362 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.1260 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000102144 GTEx
HGNC ID HGNC:8896 ENTREZGENE
Human Proteome Map PGK1 Human Proteome Map
InterPro Phosphoglycerate_kinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phosphoglycerate_kinase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phosphoglycerate_kinase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phosphoglycerate_kinase_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5230 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5230 ENTREZGENE
OMIM 300653 OMIM
  311800 OMIM
PANTHER PTHR11406 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PGK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33234 PharmGKB
PIRSF Pgk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS PHGLYCKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PGLYCERATE_KINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53748 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt P00558 ENTREZGENE, UniProtKB/Swiss-Prot
  V9HWF4 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A8K4W6 UniProtKB/Swiss-Prot
  B7Z7A9 UniProtKB/Swiss-Prot
  Q5J7W1 UniProtKB/Swiss-Prot
  Q6IBT6 UniProtKB/Swiss-Prot
  Q8NI87 UniProtKB/Swiss-Prot