H6PD (hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase) - Rat Genome Database

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Gene: H6PD (hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase) Homo sapiens
Analyze
Symbol: H6PD
Name: hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
RGD ID: 1315252
HGNC Page HGNC
Description: Enables glucose-6-phosphate dehydrogenase activity. Involved in pentose-phosphate shunt, oxidative branch and regulation of cortisol biosynthetic process. Located in endoplasmic reticulum lumen. Implicated in cortisone reductase deficiency; cortisone reductase deficiency 1; and multiple sclerosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 6-phosphogluconolactonase; CORTRD1; DKFZp686A01246; G6PD, H form; G6PDH; GDH; GDH/6PGL endoplasmic bifunctional protein; glucose 1- dehydrogenase; glucose dehydrogenase; glucose dehyrogenase; glucose-6-phosphate dehydrogenase, salivary; H6PDH; hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase); MGC87643
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 Ensembl19,234,774 - 9,271,337 (+)EnsemblGRCh38hg38GRCh38
GRCh3819,234,767 - 9,271,337 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3719,294,833 - 9,331,396 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3619,217,450 - 9,253,983 (+)NCBINCBI36hg18NCBI36
Build 3419,229,099 - 9,260,797NCBI
Celera18,404,605 - 8,441,131 (+)NCBI
Cytogenetic Map1p36.22NCBI
HuRef18,445,791 - 8,481,724 (+)NCBIHuRef
CHM1_119,285,083 - 9,321,616 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-(-)-perillyl alcohol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-methyl-6-(phenylethynyl)pyridine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxynon-2-enal  (EXP)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bortezomib  (EXP)
butanal  (EXP)
cadmium atom  (ISO)
capsaicin  (ISO)
carbon nanotube  (ISO)
cis-caffeic acid  (ISO)
cisplatin  (ISO)
cobalt dichloride  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
cortisol  (EXP)
cyclosporin A  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dicrotophos  (EXP)
diethyl maleate  (ISO)
disulfiram  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
gentamycin  (ISO)
glycidol  (ISO)
leflunomide  (ISO)
malonaldehyde  (EXP)
MeIQx  (EXP)
methapyrilene  (EXP,ISO)
nickel atom  (EXP)
paracetamol  (EXP,ISO)
pentanal  (EXP)
perillyl alcohol  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (EXP)
propiconazole  (ISO)
selenium atom  (EXP)
serpentine asbestos  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (ISO)
T-2 toxin  (ISO)
temozolomide  (EXP)
tert-butyl hydroperoxide  (ISO)
testosterone  (EXP)
thioacetamide  (ISO)
trans-caffeic acid  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vitamin E  (EXP)
zidovudine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

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:950237   PMID:4169027   PMID:7106784   PMID:8889548   PMID:10349511   PMID:10497882   PMID:12477932   PMID:12831846   PMID:14671302   PMID:14702039   PMID:15280030   PMID:15489334  
PMID:15767211   PMID:15827106   PMID:16079115   PMID:16079116   PMID:16091483   PMID:16710414   PMID:17062770   PMID:18029348   PMID:18586838   PMID:18628520   PMID:18665910   PMID:18963204  
PMID:19010388   PMID:19121282   PMID:20200332   PMID:20211231   PMID:20228249   PMID:20800603   PMID:21050867   PMID:21858044   PMID:21869537   PMID:22268729   PMID:22285204   PMID:22306327  
PMID:22632162   PMID:23125313   PMID:23132696   PMID:23333304   PMID:23563607   PMID:23979790   PMID:24631573   PMID:26186194   PMID:26337086   PMID:26452272   PMID:26860459   PMID:28370139  
PMID:28514442   PMID:28611215   PMID:29295867   PMID:29507755   PMID:32409323  


Genomics

Comparative Map Data
H6PD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl19,234,774 - 9,271,337 (+)EnsemblGRCh38hg38GRCh38
GRCh3819,234,767 - 9,271,337 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3719,294,833 - 9,331,396 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3619,217,450 - 9,253,983 (+)NCBINCBI36hg18NCBI36
Build 3419,229,099 - 9,260,797NCBI
Celera18,404,605 - 8,441,131 (+)NCBI
Cytogenetic Map1p36.22NCBI
HuRef18,445,791 - 8,481,724 (+)NCBIHuRef
CHM1_119,285,083 - 9,321,616 (+)NCBICHM1_1
H6pd
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394150,063,931 - 150,093,480 (-)NCBIGRCm39mm39
GRCm39 Ensembl4150,063,932 - 150,093,480 (-)Ensembl
GRCm384149,979,474 - 150,009,023 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4149,979,475 - 150,009,023 (-)EnsemblGRCm38mm10GRCm38
MGSCv374149,353,590 - 149,383,132 (-)NCBIGRCm37mm9NCBIm37
MGSCv364148,823,281 - 148,852,823 (-)NCBImm8
Celera4152,253,494 - 152,283,077 (-)NCBICelera
Cytogenetic Map4E2NCBI
cM Map480.65NCBI
H6pd
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25160,434,499 - 160,470,203 (-)NCBImRatBN7.2
Rnor_6.0 Ensembl5166,998,881 - 167,030,441 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.05166,994,683 - 167,030,441 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.05170,639,363 - 170,671,849 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45167,093,827 - 167,125,298 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15167,106,074 - 167,122,313 (-)NCBI
Celera5158,701,339 - 158,732,691 (-)NCBICelera
Cytogenetic Map5q36NCBI
H6pd
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554864,022,306 - 4,115,077 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554864,088,354 - 4,115,077 (-)NCBIChiLan1.0ChiLan1.0
H6PD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.119,232,668 - 9,263,094 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl19,232,666 - 9,256,631 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v017,996,315 - 8,031,987 (+)NCBIMhudiblu_PPA_v0panPan3
H6PD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1562,548,136 - 62,577,346 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl562,548,221 - 62,608,964 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha562,565,183 - 62,594,414 (+)NCBI
ROS_Cfam_1.0562,774,365 - 62,803,560 (+)NCBI
UMICH_Zoey_3.1562,772,315 - 62,801,501 (+)NCBI
UNSW_CanFamBas_1.0562,636,227 - 62,665,428 (+)NCBI
UU_Cfam_GSD_1.0563,040,668 - 63,069,873 (+)NCBI
H6pd
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505832,871,094 - 32,893,170 (+)NCBI
SpeTri2.0NW_0049366233,359,624 - 3,376,598 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
H6PD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl669,666,600 - 69,714,463 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1669,666,348 - 69,700,303 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
H6PD
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120122,502,084 - 122,531,214 (-)NCBI
ChlSab1.1 Ensembl20122,503,687 - 122,526,074 (-)Ensembl
Vero_WHO_p1.0NW_02366605426,514,853 - 26,546,615 (-)NCBI
H6pd
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248183,025,323 - 3,052,486 (-)NCBI

Position Markers
SHGC-74170  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719,327,712 - 9,327,874UniSTSGRCh37
Build 3619,250,299 - 9,250,461RGDNCBI36
Celera18,437,447 - 8,437,609RGD
Cytogenetic Map1p36UniSTS
HuRef18,478,040 - 8,478,202UniSTS
TNG Radiation Hybrid Map186884.0UniSTS
GeneMap99-GB4 RH Map132.1UniSTS
D1S1425  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map2p23-p22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic Map2p11.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map3q11.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map15q11-q12UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map4q31.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map15q24-q25UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6q16UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic MapXq21.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5216
Count of miRNA genes:1286
Interacting mature miRNAs:1637
Transcripts:ENST00000377403, ENST00000495451, ENST00000602477
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2399 2406 1705 613 1495 455 4256 2002 1517 318 1416 1555 171 1204 2779 3
Low 39 584 21 11 454 10 100 195 2211 101 44 57 4 1 9 3 2
Below cutoff 1 2 5 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AJ012590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY409284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC044256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC081559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM974986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z98044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000377403   ⟹   ENSP00000366620
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl19,234,774 - 9,271,337 (+)Ensembl
RefSeq Acc Id: ENST00000495451
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl19,265,530 - 9,271,337 (+)Ensembl
RefSeq Acc Id: ENST00000602477   ⟹   ENSP00000473348
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl19,239,844 - 9,267,898 (+)Ensembl
RefSeq Acc Id: NM_001282587   ⟹   NP_001269516
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,239,847 - 9,271,337 (+)NCBI
HuRef18,445,791 - 8,481,724 (+)NCBI
CHM1_119,290,123 - 9,321,616 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004285   ⟹   NP_004276
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,234,774 - 9,271,337 (+)NCBI
GRCh3719,294,822 - 9,331,396 (+)NCBI
Build 3619,217,450 - 9,253,983 (+)NCBI Archive
HuRef18,445,791 - 8,481,724 (+)ENTREZGENE
CHM1_119,285,083 - 9,321,616 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005263540   ⟹   XP_005263597
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,240,035 - 9,271,331 (+)NCBI
GRCh3719,294,822 - 9,331,396 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006711052   ⟹   XP_006711115
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,234,767 - 9,271,331 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017002865   ⟹   XP_016858354
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,237,465 - 9,271,331 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017002866   ⟹   XP_016858355
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,245,237 - 9,271,331 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004276   ⟸   NM_004285
- Peptide Label: isoform 2 precursor
- UniProtKB: O95479 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005263597   ⟸   XM_005263540
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001269516   ⟸   NM_001282587
- Peptide Label: isoform 1 precursor
- UniProtKB: R4GMU1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006711115   ⟸   XM_006711052
- Peptide Label: isoform X2
- UniProtKB: O95479 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016858354   ⟸   XM_017002865
- Peptide Label: isoform X2
- UniProtKB: O95479 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016858355   ⟸   XM_017002866
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000366620   ⟸   ENST00000377403
RefSeq Acc Id: ENSP00000473348   ⟸   ENST00000602477

Promoters
RGD ID:6785691
Promoter ID:HG_KWN:554
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:ENST00000377403
Position:
Human AssemblyChrPosition (strand)Source
Build 3619,217,199 - 9,217,699 (+)MPROMDB
RGD ID:6809577
Promoter ID:HG_ACW:385
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:H6PD.AAPR07,   VAWZUBO.AAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 3619,222,269 - 9,222,769 (+)MPROMDB
RGD ID:6853996
Promoter ID:EPDNEW_H163
Type:initiation region
Name:H6PD_1
Description:hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H164  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,234,774 - 9,234,834EPDNEW
RGD ID:6853998
Promoter ID:EPDNEW_H164
Type:initiation region
Name:H6PD_2
Description:hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H163  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,239,847 - 9,239,907EPDNEW
RGD ID:6785692
Promoter ID:HG_KWN:555
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000004929
Position:
Human AssemblyChrPosition (strand)Source
Build 3619,249,526 - 9,250,026 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004285.4(H6PD):c.1860_1861insACAGGTGGTTGACCTGTGGCCGGGTCTGA (p.Glu621delinsThrGlyGlyTer) insertion Cortisone reductase deficiency 1 [RCV000017510] Chr1:9264353..9264354 [GRCh38]
Chr1:9324412..9324413 [GRCh37]
Chr1:1p36.22
pathogenic
NM_004285.4(H6PD):c.1358G>A (p.Arg453Gln) single nucleotide variant Cortisone reductase deficiency 1 [RCV000017511] Chr1:9263851 [GRCh38]
Chr1:9323910 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_004285.4(H6PD):c.960G>A (p.Val320=) single nucleotide variant Cortisone reductase deficiency 1 [RCV000024290] Chr1:9262273 [GRCh38]
Chr1:9322332 [GRCh37]
Chr1:1p36.22
pathogenic
NM_004285.4(H6PD):c.1076G>A (p.Gly359Asp) single nucleotide variant Cortisone reductase deficiency 1 [RCV000024291] Chr1:9263569 [GRCh38]
Chr1:9323628 [GRCh37]
Chr1:1p36.22
pathogenic
NM_004285.4(H6PD):c.948C>G (p.Tyr316Ter) single nucleotide variant Cortisone reductase deficiency 1 [RCV000024292] Chr1:9262261 [GRCh38]
Chr1:9322320 [GRCh37]
Chr1:1p36.22
pathogenic
NM_004285.4(H6PD):c.325del (p.Arg109fs) deletion Cortisone reductase deficiency 1 [RCV000024293] Chr1:9245258 [GRCh38]
Chr1:9305317 [GRCh37]
Chr1:1p36.22
pathogenic
GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3 copy number gain See cases [RCV000051794] Chr1:6652339..12724844 [GRCh38]
Chr1:6712399..12784811 [GRCh37]
Chr1:6634986..12707398 [NCBI36]
Chr1:1p36.31-36.21
pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|See cases [RCV000051795] Chr1:6853513..17326813 [GRCh38]
Chr1:6913573..17685411 [GRCh37]
Chr1:6836160..17557998 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-10809098)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|See cases [RCV000052038] Chr1:844347..10809098 [GRCh38]
Chr1:779727..10869155 [GRCh37]
Chr1:769590..10791742 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.32-36.22(chr1:5274008-9329925)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053727]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053727]|See cases [RCV000053727] Chr1:5274008..9329925 [GRCh38]
Chr1:5334068..9389984 [GRCh37]
Chr1:5233928..9312571 [NCBI36]
Chr1:1p36.32-36.22
pathogenic
GRCh38/hg38 1p36.31-36.22(chr1:5682528-10863843)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053730]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053730]|See cases [RCV000053730] Chr1:5682528..10863843 [GRCh38]
Chr1:5742588..10923900 [GRCh37]
Chr1:5665175..10846487 [NCBI36]
Chr1:1p36.31-36.22
pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:2963330-12666744)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|See cases [RCV000053713] Chr1:2963330..12666744 [GRCh38]
Chr1:2879895..12726755 [GRCh37]
Chr1:2869755..12649342 [NCBI36]
Chr1:1p36.32-36.21
pathogenic
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 copy number loss See cases [RCV000053714] Chr1:3006193..17688934 [GRCh38]
Chr1:2922757..18015429 [GRCh37]
Chr1:2912617..17888016 [NCBI36]
Chr1:1p36.32-36.13
pathogenic
GRCh38/hg38 1p36.32-36.22(chr1:3319336-11243395)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|See cases [RCV000053716] Chr1:3319336..11243395 [GRCh38]
Chr1:3235900..11303452 [GRCh37]
Chr1:3225760..11226039 [NCBI36]
Chr1:1p36.32-36.22
pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1 copy number loss See cases [RCV000053724] Chr1:4898439..13111056 [GRCh38]
Chr1:4958499..13178528 [GRCh37]
Chr1:4858359..13101115 [NCBI36]
Chr1:1p36.32-36.21
pathogenic
GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1 copy number loss See cases [RCV000053755] Chr1:7165036..13111056 [GRCh38]
Chr1:7225096..13178528 [GRCh37]
Chr1:7147683..13101115 [NCBI36]
Chr1:1p36.23-36.21
pathogenic
GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1 copy number loss See cases [RCV000053756] Chr1:9034671..16441465 [GRCh38]
Chr1:9094730..16767960 [GRCh37]
Chr1:9017317..16640547 [NCBI36]
Chr1:1p36.23-36.13
pathogenic
NM_004285.3(H6PD):c.1635C>T (p.Val545=) single nucleotide variant Malignant melanoma [RCV000064951] Chr1:9264128 [GRCh38]
Chr1:9324187 [GRCh37]
Chr1:9246774 [NCBI36]
Chr1:1p36.22
not provided
NM_004285.4(H6PD):c.745+88T>A single nucleotide variant Cortisone reductase deficiency 1 [RCV000986230]|not specified [RCV000171451] Chr1:9247171 [GRCh38]
Chr1:9307230 [GRCh37]
Chr1:1p36.22
likely pathogenic|benign|likely benign
NM_004285.4(H6PD):c.1109G>A (p.Arg370Gln) single nucleotide variant Cortisone reductase deficiency 1 [RCV001332400] Chr1:9263602 [GRCh38]
Chr1:9323661 [GRCh37]
Chr1:1p36.22
uncertain significance
GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1 copy number loss See cases [RCV000133779] Chr1:9064492..12666744 [GRCh38]
Chr1:9124551..12726755 [GRCh37]
Chr1:9047138..12649342 [NCBI36]
Chr1:1p36.23-36.21
pathogenic
GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1 copy number loss See cases [RCV000135807] Chr1:8283694..12470133 [GRCh38]
Chr1:8343754..12530188 [GRCh37]
Chr1:8266341..12452775 [NCBI36]
Chr1:1p36.23-36.22
pathogenic
GRCh38/hg38 1p36.23-36.22(chr1:8804244-10102950)x3 copy number gain See cases [RCV000137134] Chr1:8804244..10102950 [GRCh38]
Chr1:8864303..10163008 [GRCh37]
Chr1:8786890..10085595 [NCBI36]
Chr1:1p36.23-36.22
uncertain significance
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1 copy number loss See cases [RCV000136695] Chr1:844347..12470133 [GRCh38]
Chr1:779727..12530188 [GRCh37]
Chr1:769590..12452775 [NCBI36]
Chr1:1p36.33-36.22
pathogenic|likely pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1 copy number loss See cases [RCV000137461] Chr1:4898439..12911913 [GRCh38]
Chr1:4958499..12971757 [GRCh37]
Chr1:4858359..12894344 [NCBI36]
Chr1:1p36.32-36.21
pathogenic
GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1 copy number loss See cases [RCV000137948] Chr1:6303641..15799093 [GRCh38]
Chr1:6363701..16125588 [GRCh37]
Chr1:6286288..15998175 [NCBI36]
Chr1:1p36.31-36.21
pathogenic|likely benign
GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1 copy number loss See cases [RCV000141970] Chr1:914086..9567122 [GRCh38]
Chr1:849466..9627180 [GRCh37]
Chr1:839329..9549767 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1 copy number loss See cases [RCV000141577] Chr1:902111..9556305 [GRCh38]
Chr1:837491..9616363 [GRCh37]
Chr1:827354..9538950 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3 copy number gain See cases [RCV000142906] Chr1:6554885..16056011 [GRCh38]
Chr1:6614945..16382506 [GRCh37]
Chr1:6537532..16255093 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1 copy number loss See cases [RCV000142615] Chr1:911300..9329925 [GRCh38]
Chr1:846680..9389984 [GRCh37]
Chr1:836543..9312571 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 copy number loss See cases [RCV000142771] Chr1:5363826..18360302 [GRCh38]
Chr1:5423886..18686796 [GRCh37]
Chr1:5323746..18559383 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
GRCh38/hg38 1p36.23-36.22(chr1:8819278-9634691)x3 copy number gain See cases [RCV000143200] Chr1:8819278..9634691 [GRCh38]
Chr1:8879337..9694749 [GRCh37]
Chr1:8801924..9617336 [NCBI36]
Chr1:1p36.23-36.22
uncertain significance
Single allele complex Ductal breast carcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11
uncertain significance
chr1:909238-16736132 complex variant complex Ductal breast carcinoma [RCV000207094] Chr1:909238..16736132 [GRCh37]
Chr1:1p36.33-36.13
uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1 copy number loss See cases [RCV000239416] Chr1:82154..12699337 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1 copy number loss See cases [RCV000240403] Chr1:746608..15077159 [GRCh37]
Chr1:1p36.33-36.21
pathogenic
GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3 copy number gain See cases [RCV000240284] Chr1:8255222..12785220 [GRCh37]
Chr1:1p36.23-36.21
likely pathogenic
GRCh37/hg19 1p36.22(chr1:9328653-9389926)x3 copy number gain See cases [RCV000449274] Chr1:9328653..9389926 [GRCh37]
Chr1:1p36.22
likely benign
GRCh37/hg19 1p36.32-36.22(chr1:2817420-10670878)x1 copy number loss See cases [RCV000449468] Chr1:2817420..10670878 [GRCh37]
Chr1:1p36.32-36.22
pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-9683808)x1 copy number loss See cases [RCV000446331] Chr1:849466..9683808 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1 copy number loss See cases [RCV000446359] Chr1:4558588..13187457 [GRCh37]
Chr1:1p36.32-36.21
pathogenic
GRCh37/hg19 1p36.22(chr1:9305494-9389926)x3 copy number gain See cases [RCV000446863] Chr1:9305494..9389926 [GRCh37]
Chr1:1p36.22
likely benign
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 copy number loss See cases [RCV000446470] Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12
pathogenic
GRCh37/hg19 1p36.23-36.22(chr1:7301946-11143298)x3 copy number gain See cases [RCV000448222] Chr1:7301946..11143298 [GRCh37]
Chr1:1p36.23-36.22
pathogenic
NM_004285.3(H6PD):c.-7_1delCCCAGGCA microsatellite not specified [RCV000454523] Chr1:9244920..9244927 [GRCh38]
Chr1:9304979..9304986 [GRCh37]
Chr1:1p36.22
benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.23-36.22(chr1:8855705-9389530)x1 copy number loss See cases [RCV000510311] Chr1:8855705..9389530 [GRCh37]
Chr1:1p36.23-36.22
likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1 copy number loss See cases [RCV000512226] Chr1:8850514..16272383 [GRCh37]
Chr1:1p36.23-36.13
likely pathogenic
GRCh37/hg19 1p36.23-36.22(chr1:7331314-9427796)x1 copy number loss not provided [RCV000684545] Chr1:7331314..9427796 [GRCh37]
Chr1:1p36.23-36.22
pathogenic
GRCh37/hg19 1p36.23-36.22(chr1:7391956-9775929)x1 copy number loss not provided [RCV000684546] Chr1:7391956..9775929 [GRCh37]
Chr1:1p36.23-36.22
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.22(chr1:9319746-9402403)x3 copy number gain not provided [RCV000736391] Chr1:9319746..9402403 [GRCh37]
Chr1:1p36.22
benign
GRCh37/hg19 1p36.22(chr1:9319746-9408959)x3 copy number gain not provided [RCV000736392] Chr1:9319746..9408959 [GRCh37]
Chr1:1p36.22
benign
GRCh37/hg19 1p36.22(chr1:9318401-9400868)x3 copy number gain not provided [RCV000736389] Chr1:9318401..9400868 [GRCh37]
Chr1:1p36.22
benign
GRCh37/hg19 1p36.22(chr1:9319901-9402403)x3 copy number gain not provided [RCV000736394] Chr1:9319901..9402403 [GRCh37]
Chr1:1p36.22
benign
GRCh37/hg19 1p36.22(chr1:9318401-9402403)x3 copy number gain not provided [RCV000736390] Chr1:9318401..9402403 [GRCh37]
Chr1:1p36.22
benign
GRCh37/hg19 1p36.22(chr1:9319901-9387444)x3 copy number gain not provided [RCV000736393] Chr1:9319901..9387444 [GRCh37]
Chr1:1p36.22
benign
GRCh37/hg19 1p36.22(chr1:9319901-9406979)x3 copy number gain not provided [RCV000748883] Chr1:9319901..9406979 [GRCh37]
Chr1:1p36.22
benign
GRCh37/hg19 1p36.22(chr1:9320953-9402403)x3 copy number gain not provided [RCV000748884] Chr1:9320953..9402403 [GRCh37]
Chr1:1p36.22
benign
GRCh37/hg19 1p36.22(chr1:9323910-9408959)x3 copy number gain not provided [RCV000748885] Chr1:9323910..9408959 [GRCh37]
Chr1:1p36.22
benign
NM_004285.4(H6PD):c.653G>A (p.Arg218Gln) single nucleotide variant not provided [RCV000970032] Chr1:9246991 [GRCh38]
Chr1:9307050 [GRCh37]
Chr1:1p36.22
likely benign
NM_004285.4(H6PD):c.1786G>A (p.Val596Met) single nucleotide variant not provided [RCV000970033] Chr1:9264279 [GRCh38]
Chr1:9324338 [GRCh37]
Chr1:1p36.22
benign
NM_004285.4(H6PD):c.1187G>A (p.Arg396Gln) single nucleotide variant not provided [RCV000906700] Chr1:9263680 [GRCh38]
Chr1:9323739 [GRCh37]
Chr1:1p36.22
likely benign
NM_004285.4(H6PD):c.1842G>A (p.Thr614=) single nucleotide variant not provided [RCV000905686] Chr1:9264335 [GRCh38]
Chr1:9324394 [GRCh37]
Chr1:1p36.22
benign
NM_004285.4(H6PD):c.678C>T (p.Asp226=) single nucleotide variant not provided [RCV000967901] Chr1:9247016 [GRCh38]
Chr1:9307075 [GRCh37]
Chr1:1p36.22
benign
NM_004285.4(H6PD):c.1161C>T (p.Ala387=) single nucleotide variant not provided [RCV000879781] Chr1:9263654 [GRCh38]
Chr1:9323713 [GRCh37]
Chr1:1p36.22
likely benign
NM_004285.4(H6PD):c.255C>T (p.Ser85=) single nucleotide variant not provided [RCV000905798] Chr1:9245189 [GRCh38]
Chr1:9305248 [GRCh37]
Chr1:1p36.22
benign
NM_004285.4(H6PD):c.732C>T (p.Thr244=) single nucleotide variant not provided [RCV000976645] Chr1:9247070 [GRCh38]
Chr1:9307129 [GRCh37]
Chr1:1p36.22
likely benign
NM_004285.4(H6PD):c.732C>A (p.Thr244=) single nucleotide variant not provided [RCV000903036] Chr1:9247070 [GRCh38]
Chr1:9307129 [GRCh37]
Chr1:1p36.22
benign
NM_004285.4(H6PD):c.628-7C>G single nucleotide variant not provided [RCV000880490] Chr1:9246959 [GRCh38]
Chr1:9307018 [GRCh37]
Chr1:1p36.22
benign
NM_004285.4(H6PD):c.1450A>G (p.Asn484Asp) single nucleotide variant not provided [RCV000966727] Chr1:9263943 [GRCh38]
Chr1:9324002 [GRCh37]
Chr1:1p36.22
benign
NM_004285.4(H6PD):c.2268G>A (p.Thr756=) single nucleotide variant not provided [RCV000898281] Chr1:9264761 [GRCh38]
Chr1:9324820 [GRCh37]
Chr1:1p36.22
likely benign
NM_004285.4(H6PD):c.1725T>C (p.Ala575=) single nucleotide variant not provided [RCV000972361] Chr1:9264218 [GRCh38]
Chr1:9324277 [GRCh37]
Chr1:1p36.22
benign
NM_004285.4(H6PD):c.1194C>T (p.Leu398=) single nucleotide variant not provided [RCV000926759] Chr1:9263687 [GRCh38]
Chr1:9323746 [GRCh37]
Chr1:1p36.22
likely benign
NM_004285.4(H6PD):c.2267C>T (p.Thr756Met) single nucleotide variant not provided [RCV000937841] Chr1:9264760 [GRCh38]
Chr1:9324819 [GRCh37]
Chr1:1p36.22
benign
NM_004285.4(H6PD):c.628-8C>T single nucleotide variant not provided [RCV000965538] Chr1:9246958 [GRCh38]
Chr1:9307017 [GRCh37]
Chr1:1p36.22
benign
NM_004285.4(H6PD):c.1770G>T (p.Ser590=) single nucleotide variant not provided [RCV000894394] Chr1:9264263 [GRCh38]
Chr1:9324322 [GRCh37]
Chr1:1p36.22
likely benign
NM_004285.4(H6PD):c.927C>T (p.Val309=) single nucleotide variant not provided [RCV000961876] Chr1:9262240 [GRCh38]
Chr1:9322299 [GRCh37]
Chr1:1p36.22
benign
GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1 copy number loss See cases [RCV000790592] Chr1:82154..11784118 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
NM_004285.4(H6PD):c.628-8C>G single nucleotide variant not provided [RCV000892897] Chr1:9246958 [GRCh38]
Chr1:9307017 [GRCh37]
Chr1:1p36.22
benign
Single allele deletion Neurodevelopmental disorder [RCV000787413] Chr1:554375..9779842 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
NM_004285.4(H6PD):c.1011C>T (p.Phe337=) single nucleotide variant not provided [RCV000965539] Chr1:9262324 [GRCh38]
Chr1:9322383 [GRCh37]
Chr1:1p36.22
benign
NM_004285.4(H6PD):c.1004C>T (p.Pro335Leu) single nucleotide variant not provided [RCV000952803] Chr1:9262317 [GRCh38]
Chr1:9322376 [GRCh37]
Chr1:1p36.22
likely benign
NM_004285.4(H6PD):c.400C>T (p.Arg134Trp) single nucleotide variant not provided [RCV000911048] Chr1:9245334 [GRCh38]
Chr1:9305393 [GRCh37]
Chr1:1p36.22
benign
NM_004285.4(H6PD):c.771C>T (p.Tyr257=) single nucleotide variant not provided [RCV000907282] Chr1:9262084 [GRCh38]
Chr1:9322143 [GRCh37]
Chr1:1p36.22
benign
NM_004285.4(H6PD):c.822C>T (p.Leu274=) single nucleotide variant not provided [RCV000900910] Chr1:9262135 [GRCh38]
Chr1:9322194 [GRCh37]
Chr1:1p36.22
likely benign
NM_004285.4(H6PD):c.1053C>T (p.Gly351=) single nucleotide variant not provided [RCV000974820] Chr1:9263546 [GRCh38]
Chr1:9323605 [GRCh37]
Chr1:1p36.22
benign
NM_004285.4(H6PD):c.1398C>T (p.Phe466=) single nucleotide variant not provided [RCV000974821] Chr1:9263891 [GRCh38]
Chr1:9323950 [GRCh37]
Chr1:1p36.22
benign
NM_004285.4(H6PD):c.1734C>T (p.Ala578=) single nucleotide variant not provided [RCV000974822] Chr1:9264227 [GRCh38]
Chr1:9324286 [GRCh37]
Chr1:1p36.22
benign
NM_004285.4(H6PD):c.1531T>C (p.Leu511=) single nucleotide variant not provided [RCV000897317] Chr1:9264024 [GRCh38]
Chr1:9324083 [GRCh37]
Chr1:1p36.22
likely benign
NM_004285.4(H6PD):c.635C>T (p.Ala212Val) single nucleotide variant not provided [RCV000909486] Chr1:9246973 [GRCh38]
Chr1:9307032 [GRCh37]
Chr1:1p36.22
benign
NM_004285.4(H6PD):c.2088C>T (p.Asp696=) single nucleotide variant not provided [RCV000894395] Chr1:9264581 [GRCh38]
Chr1:9324640 [GRCh37]
Chr1:1p36.22
likely benign
NM_004285.4(H6PD):c.1770G>A (p.Ser590=) single nucleotide variant not provided [RCV000961252] Chr1:9264263 [GRCh38]
Chr1:9324322 [GRCh37]
Chr1:1p36.22
benign
NM_004285.4(H6PD):c.1933C>T (p.Arg645Trp) single nucleotide variant not provided [RCV000963052] Chr1:9264426 [GRCh38]
Chr1:9324485 [GRCh37]
Chr1:1p36.22
likely benign
NM_004285.4(H6PD):c.186C>T (p.Phe62=) single nucleotide variant not provided [RCV000957774] Chr1:9245120 [GRCh38]
Chr1:9305179 [GRCh37]
Chr1:1p36.22
benign
NM_004285.4(H6PD):c.679G>A (p.Gly227Ser) single nucleotide variant not provided [RCV000957775] Chr1:9247017 [GRCh38]
Chr1:9307076 [GRCh37]
Chr1:1p36.22
benign
NM_004285.4(H6PD):c.961C>T (p.Arg321Cys) single nucleotide variant not provided [RCV000890229] Chr1:9262274 [GRCh38]
Chr1:9322333 [GRCh37]
Chr1:1p36.22
likely benign
NM_004285.4(H6PD):c.664C>T (p.Arg222Cys) single nucleotide variant not provided [RCV000911942] Chr1:9247002 [GRCh38]
Chr1:9307061 [GRCh37]
Chr1:1p36.22
likely benign
NM_004285.4(H6PD):c.516T>C (p.Leu172=) single nucleotide variant not provided [RCV000935017] Chr1:9245450 [GRCh38]
Chr1:9305509 [GRCh37]
Chr1:1p36.22
likely benign
NM_004285.4(H6PD):c.1015+1G>A single nucleotide variant Cortisone reductase deficiency 1 [RCV001292740] Chr1:9262329 [GRCh38]
Chr1:9322388 [GRCh37]
Chr1:1p36.22
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4795 AgrOrtholog
COSMIC H6PD COSMIC
Ensembl Genes ENSG00000049239 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000366620 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000473348 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000377403 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000602477 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000049239 GTEx
HGNC ID HGNC:4795 ENTREZGENE
Human Proteome Map H6PD Human Proteome Map
InterPro 6-phosphogluconolactonase_DevB UniProtKB/Swiss-Prot
  G6P_DH UniProtKB/Swiss-Prot
  G6P_DH_AS UniProtKB/Swiss-Prot
  G6P_DH_C UniProtKB/Swiss-Prot
  G6P_DH_NAD-bd UniProtKB/Swiss-Prot
  Glc/Gal-6P_isomerase UniProtKB/Swiss-Prot
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot
  NagB/RpiA_transferase-like UniProtKB/Swiss-Prot
KEGG Report hsa:9563 UniProtKB/Swiss-Prot
NCBI Gene 9563 ENTREZGENE
OMIM 138090 OMIM
  604931 OMIM
PANTHER PTHR23429 UniProtKB/Swiss-Prot
Pfam G6PD_C UniProtKB/Swiss-Prot
  G6PD_N UniProtKB/Swiss-Prot
  Glucosamine_iso UniProtKB/Swiss-Prot
PharmGKB PA29170 PharmGKB
PRINTS G6PDHDRGNASE UniProtKB/Swiss-Prot
PROSITE G6P_DEHYDROGENASE UniProtKB/Swiss-Prot
Superfamily-SCOP SSF100950 UniProtKB/Swiss-Prot
  SSF51735 UniProtKB/Swiss-Prot
TIGRFAMs pgl UniProtKB/Swiss-Prot
UniProt G6PE_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  R4GMU1 ENTREZGENE
UniProt Secondary Q4TT33 UniProtKB/Swiss-Prot
  Q66I35 UniProtKB/Swiss-Prot
  Q68DT3 UniProtKB/Swiss-Prot
  R4GMU1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 H6PD  hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase  H6PD  hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)  Symbol and/or name change 5135510 APPROVED