HPGD (15-hydroxyprostaglandin dehydrogenase) - Rat Genome Database

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Gene: HPGD (15-hydroxyprostaglandin dehydrogenase) Homo sapiens
Analyze
Symbol: HPGD
Name: 15-hydroxyprostaglandin dehydrogenase
RGD ID: 736886
HGNC Page HGNC
Description: Exhibits several functions, including 15-hydroxyprostaglandin dehydrogenase (NAD+) activity; NAD+ binding activity; and prostaglandin E receptor activity. Involved in several processes, including parturition; prostaglandin metabolic process; and regulation of prostaglandin catabolic process. Localizes to cytosol and nucleoplasm. Implicated in colon carcinoma and primary hypertrophic osteoarthropathy. Biomarker of growth hormone secreting pituitary adenoma; inflammatory bowel disease; prolactinoma; and pulmonary hypertension.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 15-hydroxyprostaglandin dehydrogenase (NAD(+)); 15-hydroxyprostaglandin dehydrogenase [NAD(+)]; 15-hydroxyprostaglandin dehydrogenase [NAD+]; 15-PGDH; hydroxyprostaglandin dehydrogenase 15-(NAD); NAD+-dependent 15-hydroxyprostaglandin dehydrogenase; nad-dependent 15-hydroxyprostaglandin dehydrogenase; PGDH; PGDH1; PHOAR1; prostaglandin dehydrogenase 1; SDR36C1; short chain dehydrogenase/reductase family 36C member 1; short chain dehydrogenase/reductase family 36C, member 1
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 Ensembl4174,490,175 - 174,523,154 (-)EnsemblGRCh38hg38GRCh38
GRCh384174,490,175 - 174,522,893 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh374175,411,326 - 175,444,044 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364175,647,955 - 175,680,186 (-)NCBINCBI36hg18NCBI36
Build 344175,786,110 - 175,818,341NCBI
Celera4172,740,096 - 172,772,812 (-)NCBI
Cytogenetic Map4q34.1NCBI
HuRef4171,160,430 - 171,193,154 (-)NCBIHuRef
CHM1_14175,387,688 - 175,420,506 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
15-dehydro-prostaglandin E2  (ISO)
16,16-dimethylprostaglandin E2  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-hydroxypropanoic acid  (EXP)
3,4-dichloroaniline  (EXP)
3-methylcholanthrene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-tert-Octylphenol  (ISO)
5-azacytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucosamine  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
andrographolide  (ISO)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-D-glucosamine  (ISO)
beta-naphthoflavone  (EXP,ISO)
betamethasone  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
buta-1,3-diene  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
celecoxib  (EXP)
choline  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP,ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
diclofenac  (EXP)
diethylstilbestrol  (ISO)
dioxygen  (EXP,ISO)
disodium selenite  (ISO)
diuron  (EXP,ISO)
dorsomorphin  (EXP)
Echimidine  (ISO)
entinostat  (EXP)
fenoprofen  (EXP)
fenvalerate  (ISO)
flurbiprofen  (EXP)
folic acid  (ISO)
furan  (ISO)
geldanamycin  (EXP)
ibuprofen  (EXP)
indometacin  (EXP)
isoflavones  (EXP)
ketamine  (ISO)
ketoprofen  (EXP)
L-methionine  (ISO)
Lasiocarpine  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
mefenamic acid  (EXP)
mercury dibromide  (EXP)
methotrexate  (EXP)
methylmercury chloride  (ISO)
methylmercury(1+)  (ISO)
methylseleninic acid  (ISO)
mifepristone  (EXP,ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-nitrosodiethylamine  (ISO)
NAD zwitterion  (EXP)
NAD(+)  (EXP)
nevirapine  (ISO)
nickel sulfate  (EXP)
Niflumic acid  (EXP)
oxidopamine  (EXP)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
p-tert-Amylphenol  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
pioglitazone  (EXP)
pirinixic acid  (ISO)
potassium bromate  (ISO)
potassium dichromate  (ISO)
prednisolone  (EXP)
prostaglandin E2  (EXP,ISO)
rac-lactic acid  (EXP)
raloxifene  (EXP)
resveratrol  (ISO)
rofecoxib  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenate  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sulforaphane  (EXP)
sulindac sulfone  (EXP)
tamibarotene  (EXP)
testosterone  (EXP)
testosterone undecanoate  (EXP)
tetrachloromethane  (ISO)
tetracycline  (ISO)
titanium dioxide  (ISO)
tremolite asbestos  (ISO)
triamcinolone  (EXP)
tributylstannane  (ISO)
trichostatin A  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cortical bone morphology  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal hair pattern  (IAGP)
Abnormal hair quantity  (IAGP)
Abnormality of bone marrow cell morphology  (IAGP)
Abnormality of epiphysis morphology  (IAGP)
Abnormality of the knee  (IAGP)
Abnormality of tibia morphology  (IAGP)
Acne  (IAGP)
Anemia  (IAGP)
Arthralgia  (IAGP)
Arthritis  (IAGP)
Arthropathy  (IAGP)
Autosomal recessive inheritance  (IAGP)
Avascular necrosis  (IAGP)
Bone pain  (IAGP)
Cerebral palsy  (IAGP)
Clubbing  (IAGP)
Clubbing of toes  (IAGP)
Coarse facial features  (IAGP)
Congenital onset  (IAGP)
Cutis gyrata of scalp  (IAGP)
Deviation of finger  (IAGP)
Disproportionate tall stature  (IAGP)
Eczema  (IAGP)
Eczematoid dermatitis  (IAGP)
Erythema  (IAGP)
Flushing  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Genu varum  (IAGP)
Growth hormone excess  (IAGP)
Gynecomastia  (IAGP)
Hepatomegaly  (IAGP)
High palate  (IAGP)
Hyperhidrosis  (IAGP)
Impaired temperature sensation  (IAGP)
Joint stiffness  (IAGP)
Joint swelling  (IAGP)
Large fontanelles  (IAGP)
Limitation of joint mobility  (IAGP)
Long clavicles  (IAGP)
Malabsorption  (IAGP)
Mottled pigmentation  (IAGP)
Neoplasm of the lung  (IAGP)
Neoplasm of the skin  (IAGP)
Osteoarthritis  (IAGP)
Osteolysis  (IAGP)
Osteolytic defects of the phalanges of the hand  (IAGP)
Osteomyelitis  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Palmoplantar hyperkeratosis  (IAGP)
Palmoplantar keratoderma  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus excavatum  (IAGP)
Peptic ulcer  (IAGP)
Ptosis  (IAGP)
Redundant skin  (IAGP)
Scoliosis  (IAGP)
Seborrheic dermatitis  (IAGP)
Small hand  (IAGP)
Splenomegaly  (IAGP)
Thickened calvaria  (IAGP)
Wormian bones  (IAGP)
References

Additional References at PubMed
PMID:1635910   PMID:1697582   PMID:2025296   PMID:2337593   PMID:7557451   PMID:8086429   PMID:8157731   PMID:8482380   PMID:9048936   PMID:9099873   PMID:9920098   PMID:10198228  
PMID:10650939   PMID:11702189   PMID:11889207   PMID:12144871   PMID:12477932   PMID:12664592   PMID:12679466   PMID:12788907   PMID:12914529   PMID:14718596   PMID:15181076   PMID:15489334  
PMID:15531523   PMID:15574495   PMID:15581601   PMID:15680906   PMID:16632868   PMID:16757471   PMID:16828555   PMID:16880406   PMID:16997128   PMID:17463062   PMID:18029348   PMID:18174234  
PMID:18212353   PMID:18328086   PMID:18500342   PMID:18593902   PMID:18632593   PMID:18660489   PMID:18805827   PMID:18987618   PMID:19010907   PMID:19027726   PMID:19034772   PMID:19056867  
PMID:19138967   PMID:19306095   PMID:19336370   PMID:19568269   PMID:19584167   PMID:19608733   PMID:19667156   PMID:19667157   PMID:19820419   PMID:19913121   PMID:19917058   PMID:20042636  
PMID:20086108   PMID:20093479   PMID:20299379   PMID:20304053   PMID:20452482   PMID:20628086   PMID:20635443   PMID:20643784   PMID:20673868   PMID:20689807   PMID:20699658   PMID:21047993  
PMID:21072165   PMID:21281786   PMID:21426412   PMID:21469975   PMID:21832049   PMID:21873635   PMID:22072156   PMID:22082586   PMID:22197745   PMID:22416177   PMID:23376485   PMID:23430757  
PMID:23506845   PMID:23625286   PMID:23717544   PMID:23954207   PMID:24471568   PMID:24533558   PMID:24694755   PMID:24699315   PMID:24760190   PMID:24816859   PMID:25003827   PMID:25433169  
PMID:25586183   PMID:25691459   PMID:25735395   PMID:25773924   PMID:25863089   PMID:26068857   PMID:26093984   PMID:26135126   PMID:26261578   PMID:26287481   PMID:27075590   PMID:27522468  
PMID:27561985   PMID:28320945   PMID:29042428   PMID:29101039   PMID:29224225   PMID:29282707   PMID:29307841   PMID:30248390   PMID:30333561   PMID:30463901   PMID:30931980   PMID:31027998  
PMID:31646799   PMID:33303683  


Genomics

Comparative Map Data
HPGD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl4174,490,175 - 174,523,154 (-)EnsemblGRCh38hg38GRCh38
GRCh384174,490,175 - 174,522,893 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh374175,411,326 - 175,444,044 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364175,647,955 - 175,680,186 (-)NCBINCBI36hg18NCBI36
Build 344175,786,110 - 175,818,341NCBI
Celera4172,740,096 - 172,772,812 (-)NCBI
Cytogenetic Map4q34.1NCBI
HuRef4171,160,430 - 171,193,154 (-)NCBIHuRef
CHM1_14175,387,688 - 175,420,506 (-)NCBICHM1_1
Hpgd
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39856,747,587 - 56,774,081 (+)NCBIGRCm39mm39
GRCm39 Ensembl856,747,620 - 56,774,078 (+)Ensembl
GRCm38856,294,552 - 56,321,046 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl856,294,585 - 56,321,043 (+)EnsemblGRCm38mm10GRCm38
MGSCv37858,773,349 - 58,799,843 (+)NCBIGRCm37mm9NCBIm37
MGSCv36859,186,738 - 59,212,816 (+)NCBImm8
Celera858,951,090 - 58,977,585 (+)NCBICelera
Cytogenetic Map8B2NCBI
Hpgd
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21633,986,265 - 34,024,228 (-)NCBI
Rnor_6.0 Ensembl1637,457,135 - 37,495,758 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01637,457,134 - 37,495,758 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01637,259,044 - 37,296,863 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41637,419,901 - 37,457,896 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11637,419,976 - 37,457,971 (-)NCBI
Celera1633,917,230 - 33,953,504 (-)NCBICelera
Cytogenetic Map16p11NCBI
Hpgd
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540332,569,841 - 32,613,763 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540332,569,841 - 32,614,860 (+)NCBIChiLan1.0ChiLan1.0
HPGD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.14178,950,152 - 178,982,910 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4178,949,137 - 178,982,910 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v04166,716,386 - 166,749,225 (-)NCBIMhudiblu_PPA_v0panPan3
HPGD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12524,964,908 - 24,993,276 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2524,964,908 - 24,993,297 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2525,617,669 - 25,646,014 (-)NCBI
ROS_Cfam_1.02525,128,311 - 25,156,688 (-)NCBI
UMICH_Zoey_3.12525,076,268 - 25,104,599 (-)NCBI
UNSW_CanFamBas_1.02524,965,511 - 24,993,846 (-)NCBI
UU_Cfam_GSD_1.02525,117,290 - 25,145,635 (-)NCBI
Hpgd
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494325,138,011 - 25,164,513 (-)NCBI
SpeTri2.0NW_0049365165,551,192 - 5,578,796 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HPGD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1415,718,266 - 15,763,710 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11415,718,261 - 15,773,534 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21416,909,010 - 16,921,261 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HPGD
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.17120,589,646 - 120,620,864 (-)NCBI
ChlSab1.1 Ensembl7120,588,462 - 120,621,016 (-)Ensembl
Hpgd
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247696,101,482 - 6,139,465 (-)NCBI

Position Markers
SHGC-59688  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374175,412,685 - 175,412,824UniSTSGRCh37
Build 364175,649,260 - 175,649,399RGDNCBI36
Celera4172,741,453 - 172,741,592RGD
Cytogenetic Map4q34-q35UniSTS
HuRef4171,161,787 - 171,161,926UniSTS
GeneMap99-GB4 RH Map4673.21UniSTS
NCBI RH Map41772.7UniSTS
STS-AA032211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374175,419,910 - 175,420,134UniSTSGRCh37
Build 364175,656,485 - 175,656,709RGDNCBI36
Celera4172,748,678 - 172,748,902RGD
Cytogenetic Map4q34-q35UniSTS
HuRef4171,169,012 - 171,169,236UniSTS
GeneMap99-GB4 RH Map4671.35UniSTS
SHGC-67317  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374175,412,169 - 175,412,281UniSTSGRCh37
Build 364175,648,744 - 175,648,856RGDNCBI36
Celera4172,740,937 - 172,741,049RGD
Cytogenetic Map4q34-q35UniSTS
HuRef4171,161,271 - 171,161,383UniSTS
TNG Radiation Hybrid Map4103748.0UniSTS
GeneMap99-GB4 RH Map4672.9UniSTS
RH103965  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374175,426,108 - 175,426,246UniSTSGRCh37
Build 364175,662,683 - 175,662,821RGDNCBI36
Celera4172,754,872 - 172,755,010RGD
Cytogenetic Map4q34-q35UniSTS
HuRef4171,175,206 - 171,175,344UniSTS
GeneMap99-GB4 RH Map4672.69UniSTS
RH121319  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374175,431,243 - 175,431,547UniSTSGRCh37
Build 364175,667,818 - 175,668,122RGDNCBI36
Celera4172,760,006 - 172,760,310RGD
Cytogenetic Map4q34-q35UniSTS
HuRef4171,180,340 - 171,180,644UniSTS
TNG Radiation Hybrid Map4103777.0UniSTS
SHGC-59842  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374175,411,666 - 175,411,817UniSTSGRCh37
Build 364175,648,241 - 175,648,392RGDNCBI36
Celera4172,740,434 - 172,740,585RGD
Cytogenetic Map4q34-q35UniSTS
HuRef4171,160,768 - 171,160,919UniSTS
GeneMap99-GB4 RH Map4671.24UniSTS
D4S3150  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374175,412,256 - 175,412,446UniSTSGRCh37
Build 364175,648,831 - 175,649,021RGDNCBI36
Celera4172,741,024 - 172,741,214RGD
Cytogenetic Map4q34-q35UniSTS
HuRef4171,161,358 - 171,161,548UniSTS
TNG Radiation Hybrid Map4103759.0UniSTS
Stanford-G3 RH Map49335.0UniSTS
NCBI RH Map41708.4UniSTS
GeneMap99-G3 RH Map49260.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2148
Count of miRNA genes:792
Interacting mature miRNAs:905
Transcripts:ENST00000296521, ENST00000296522, ENST00000422112, ENST00000504433, ENST00000506910, ENST00000508330, ENST00000509512, ENST00000510835, ENST00000510901, ENST00000511499, ENST00000512410, ENST00000514584, ENST00000541923, ENST00000542498
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1972 307 402 380 570 360 1502 687 5 175 429 653 24 265 677 2
Low 438 1609 1060 204 774 75 2470 894 1565 211 789 702 135 939 1770 1
Below cutoff 15 1065 251 35 291 27 369 598 2099 26 201 204 11 341

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_938728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC096751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF177983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI435471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK058013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX396257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC420578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ903072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GN344027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J05594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L76465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U63296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X82460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000296521   ⟹   ENSP00000296521
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4174,491,458 - 174,522,487 (-)Ensembl
RefSeq Acc Id: ENST00000296522   ⟹   ENSP00000296522
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4174,490,175 - 174,522,488 (-)Ensembl
RefSeq Acc Id: ENST00000422112   ⟹   ENSP00000398720
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4174,491,785 - 174,522,488 (-)Ensembl
RefSeq Acc Id: ENST00000504433   ⟹   ENSP00000420892
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4174,506,743 - 174,522,499 (-)Ensembl
RefSeq Acc Id: ENST00000506910   ⟹   ENSP00000423066
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4174,493,152 - 174,523,154 (-)Ensembl
RefSeq Acc Id: ENST00000508330   ⟹   ENSP00000425741
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4174,491,794 - 174,522,641 (-)Ensembl
RefSeq Acc Id: ENST00000509512
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4174,491,870 - 174,493,461 (-)Ensembl
RefSeq Acc Id: ENST00000510835   ⟹   ENSP00000427699
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4174,491,104 - 174,522,475 (-)Ensembl
RefSeq Acc Id: ENST00000510901   ⟹   ENSP00000422418
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4174,491,571 - 174,523,065 (-)Ensembl
RefSeq Acc Id: ENST00000511499
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4174,491,755 - 174,495,829 (-)Ensembl
RefSeq Acc Id: ENST00000512410
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4174,495,361 - 174,522,432 (-)Ensembl
RefSeq Acc Id: ENST00000514584   ⟹   ENSP00000423110
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4174,493,159 - 174,522,333 (-)Ensembl
RefSeq Acc Id: ENST00000541923   ⟹   ENSP00000438017
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4174,490,177 - 174,522,898 (-)Ensembl
RefSeq Acc Id: ENST00000542498   ⟹   ENSP00000443644
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4174,490,177 - 174,522,898 (-)Ensembl
RefSeq Acc Id: NM_000860   ⟹   NP_000851
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384174,490,175 - 174,522,488 (-)NCBI
GRCh374175,411,328 - 175,444,049 (-)NCBI
Build 364175,647,955 - 175,680,186 (-)NCBI Archive
HuRef4171,160,430 - 171,193,154 (-)NCBI
CHM1_14175,387,688 - 175,420,506 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001145816   ⟹   NP_001139288
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384174,490,175 - 174,522,488 (-)NCBI
GRCh374175,411,328 - 175,444,049 (-)NCBI
HuRef4171,160,430 - 171,193,154 (-)NCBI
CHM1_14175,387,688 - 175,420,506 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001256301   ⟹   NP_001243230
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384174,490,177 - 174,522,893 (-)NCBI
GRCh374175,411,328 - 175,444,049 (-)NCBI
HuRef4171,160,430 - 171,193,154 (-)NCBI
CHM1_14175,387,688 - 175,420,501 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001256305   ⟹   NP_001243234
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384174,490,175 - 174,522,488 (-)NCBI
HuRef4171,160,430 - 171,193,154 (-)NCBI
CHM1_14175,387,688 - 175,420,506 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001256306   ⟹   NP_001243235
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384174,490,175 - 174,522,488 (-)NCBI
HuRef4171,160,430 - 171,193,154 (-)NCBI
CHM1_14175,387,688 - 175,420,506 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001256307   ⟹   NP_001243236
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384174,490,175 - 174,522,488 (-)NCBI
HuRef4171,160,430 - 171,193,154 (-)NCBI
CHM1_14175,387,688 - 175,420,506 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363574   ⟹   NP_001350503
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384174,506,743 - 174,522,488 (-)NCBI
RefSeq Acc Id: XR_938728
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384174,506,691 - 174,522,488 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001139288   ⟸   NM_001145816
- Peptide Label: isoform 2
- UniProtKB: P15428 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000851   ⟸   NM_000860
- Peptide Label: isoform 1
- UniProtKB: P15428 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243235   ⟸   NM_001256306
- Peptide Label: isoform 5
- UniProtKB: P15428 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243236   ⟸   NM_001256307
- Peptide Label: isoform 3
- UniProtKB: P15428 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243234   ⟸   NM_001256305
- Peptide Label: isoform 4
- UniProtKB: P15428 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243230   ⟸   NM_001256301
- Peptide Label: isoform 3
- UniProtKB: P15428 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001350503   ⟸   NM_001363574
- Peptide Label: isoform 6
RefSeq Acc Id: ENSP00000438017   ⟸   ENST00000541923
RefSeq Acc Id: ENSP00000443644   ⟸   ENST00000542498
RefSeq Acc Id: ENSP00000420892   ⟸   ENST00000504433
RefSeq Acc Id: ENSP00000423066   ⟸   ENST00000506910
RefSeq Acc Id: ENSP00000296521   ⟸   ENST00000296521
RefSeq Acc Id: ENSP00000296522   ⟸   ENST00000296522
RefSeq Acc Id: ENSP00000425741   ⟸   ENST00000508330
RefSeq Acc Id: ENSP00000427699   ⟸   ENST00000510835
RefSeq Acc Id: ENSP00000422418   ⟸   ENST00000510901
RefSeq Acc Id: ENSP00000423110   ⟸   ENST00000514584
RefSeq Acc Id: ENSP00000398720   ⟸   ENST00000422112

Promoters
RGD ID:6868934
Promoter ID:EPDNEW_H7632
Type:initiation region
Name:HPGD_1
Description:hydroxyprostaglandin dehydrogenase 15-
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7633  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384174,522,488 - 174,522,548EPDNEW
RGD ID:6868936
Promoter ID:EPDNEW_H7633
Type:multiple initiation site
Name:HPGD_2
Description:hydroxyprostaglandin dehydrogenase 15-
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7632  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384174,522,798 - 174,522,858EPDNEW
RGD ID:6851070
Promoter ID:EP73332
Type:single initiation site
Name:HS_HPGD
Description:Hydroxyprostaglandin dehydrogenase 15-(NAD).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 364175,680,214 - 175,680,274EPD
RGD ID:6802367
Promoter ID:HG_KWN:49496
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_000860,   NM_001145816,   NR_027332,   UC003ITW.1,   UC003ITX.1,   UC010IRP.1,   UC010IRQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364175,680,261 - 175,680,912 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000860.6(HPGD):c.232_241delinsCA (p.Val78fs) indel Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000008380] Chr4:174518054..174518063 [GRCh38]
Chr4:175439205..175439214 [GRCh37]
Chr4:4q34.1
pathogenic
NM_000860.6(HPGD):c.173_174CT[1] (p.Leu59fs) microsatellite Digital clubbing, isolated congenital [RCV001198389]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000008381] Chr4:174521985..174521986 [GRCh38]
Chr4:175443136..175443137 [GRCh37]
Chr4:4q34.1
pathogenic
NM_000860.6(HPGD):c.418G>C (p.Ala140Pro) single nucleotide variant Cranioosteoarthropathy [RCV000008379]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000144084] Chr4:174508699 [GRCh38]
Chr4:175429850 [GRCh37]
Chr4:4q34.1
pathogenic
NM_000860.6(HPGD):c.577T>C (p.Ser193Pro) single nucleotide variant Digital clubbing, isolated congenital [RCV000008382] Chr4:174493236 [GRCh38]
Chr4:175414387 [GRCh37]
Chr4:4q34.1
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1 copy number loss See cases [RCV000050771] Chr4:173599911..188624331 [GRCh38]
Chr4:174521062..189545485 [GRCh37]
Chr4:174757637..189782479 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3 copy number gain See cases [RCV000050649] Chr4:162013220..189975519 [GRCh38]
Chr4:162934372..190828225 [GRCh37]
Chr4:163153822..191133668 [NCBI36]
Chr4:4q32.2-35.2
pathogenic
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2
pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2
pathogenic
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] Chr4:148356485..189548183 [GRCh38]
Chr4:149277637..190469337 [GRCh37]
Chr4:149497087..190706331 [NCBI36]
Chr4:4q31.23-35.2
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:167218288-189975519)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|See cases [RCV000051792] Chr4:167218288..189975519 [GRCh38]
Chr4:168139439..190828225 [GRCh37]
Chr4:168376014..191133668 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q34.1-34.3(chr4:171507504-181381327)x3 copy number gain See cases [RCV000051793] Chr4:171507504..181381327 [GRCh38]
Chr4:172428655..182302480 [GRCh37]
Chr4:172665230..182539474 [NCBI36]
Chr4:4q34.1-34.3
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3 copy number gain See cases [RCV000051804] Chr4:172200228..189975519 [GRCh38]
Chr4:173121379..190828225 [GRCh37]
Chr4:173357954..191133668 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
NM_000860.6(HPGD):c.93+1_93+3dup duplication not provided [RCV000886287]|not specified [RCV000173171] Chr4:174522355..174522356 [GRCh38]
Chr4:175443506..175443507 [GRCh37]
Chr4:4q34.1
benign|likely benign
GRCh38/hg38 4q34.1-35.1(chr4:174080892-183195538)x1 copy number loss See cases [RCV000053354] Chr4:174080892..183195538 [GRCh38]
Chr4:175002043..184116691 [GRCh37]
Chr4:175238618..184353685 [NCBI36]
Chr4:4q34.1-35.1
pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:158568335-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|See cases [RCV000053325] Chr4:158568335..189975660 [GRCh38]
Chr4:159489487..190828225 [GRCh37]
Chr4:159708937..191133809 [NCBI36]
Chr4:4q32.1-35.2
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:163651681-189975519)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|See cases [RCV000053327] Chr4:163651681..189975519 [GRCh38]
Chr4:164572833..190828225 [GRCh37]
Chr4:164792283..191133668 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1 copy number loss See cases [RCV000053347] Chr4:164039530..189982708 [GRCh38]
Chr4:164960682..190828225 [GRCh37]
Chr4:165180132..191140857 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1 copy number loss See cases [RCV000053349] Chr4:171507704..189869726 [GRCh38]
Chr4:172428855..190790881 [GRCh37]
Chr4:172665430..191027875 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
GRCh38/hg38 4q34.1-34.3(chr4:171851295-178772816)x1 copy number loss See cases [RCV000053350] Chr4:171851295..178772816 [GRCh38]
Chr4:172772446..179693970 [GRCh37]
Chr4:173009021..179930964 [NCBI36]
Chr4:4q34.1-34.3
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1 copy number loss See cases [RCV000053352] Chr4:172356988..189975519 [GRCh38]
Chr4:173278139..190828225 [GRCh37]
Chr4:173514714..191133668 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1 copy number loss See cases [RCV000053353] Chr4:173754675..189343295 [GRCh38]
Chr4:174675826..190264449 [GRCh37]
Chr4:174912401..190501443 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
NM_000860.6(HPGD):c.1A>T (p.Met1Leu) single nucleotide variant Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000144085] Chr4:174522451 [GRCh38]
Chr4:175443602 [GRCh37]
Chr4:4q34.1
pathogenic
NM_000860.6(HPGD):c.308_309CT[1] (p.Leu104fs) microsatellite HPGD-Related Disorders [RCV000779438]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000144086] Chr4:174517984..174517985 [GRCh38]
Chr4:175439135..175439136 [GRCh37]
Chr4:4q34.1
pathogenic
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 copy number gain See cases [RCV000135845] Chr4:145042668..189975519 [GRCh38]
Chr4:145963820..190828225 [GRCh37]
Chr4:146183270..191133668 [NCBI36]
Chr4:4q31.21-35.2
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1 copy number loss See cases [RCV000136115] Chr4:173854560..189548183 [GRCh38]
Chr4:174775711..190469337 [GRCh37]
Chr4:175012286..190706331 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2
pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2
pathogenic|likely benign
GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1 copy number loss See cases [RCV000137532] Chr4:166317587..190095391 [GRCh38]
Chr4:167238739..190828225 [GRCh37]
Chr4:167458189..191250527 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q34.1(chr4:174309939-174880610)x1 copy number loss See cases [RCV000137931] Chr4:174309939..174880610 [GRCh38]
Chr4:175231090..175801761 [GRCh37]
Chr4:175467665..176038336 [NCBI36]
Chr4:4q34.1
uncertain significance
GRCh38/hg38 4q34.1-35.2(chr4:174150183-188259055)x1 copy number loss See cases [RCV000137925] Chr4:174150183..188259055 [GRCh38]
Chr4:175071334..189180209 [GRCh37]
Chr4:175307909..189417203 [NCBI36]
Chr4:4q34.1-35.2
likely pathogenic
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1
pathogenic|likely benign
GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3 copy number gain See cases [RCV000138540] Chr4:169901205..190095391 [GRCh38]
Chr4:170822356..190828225 [GRCh37]
Chr4:171058931..191250527 [NCBI36]
Chr4:4q33-35.2
uncertain significance
GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1 copy number loss See cases [RCV000140396] Chr4:169873508..190018185 [GRCh38]
Chr4:170794659..190939340 [GRCh37]
Chr4:171031234..191176334 [NCBI36]
Chr4:4q33-35.2
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1 copy number loss See cases [RCV000140414] Chr4:165281036..190018185 [GRCh38]
Chr4:166202188..190939340 [GRCh37]
Chr4:166421638..191176334 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3 copy number gain See cases [RCV000140982] Chr4:160757699..190091407 [GRCh38]
Chr4:161678851..191012562 [GRCh37]
Chr4:161898301..191246543 [NCBI36]
Chr4:4q32.1-35.2
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1 copy number loss See cases [RCV000141964] Chr4:167373716..190036318 [GRCh38]
Chr4:168294867..190957473 [GRCh37]
Chr4:168531442..191194467 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1 copy number loss See cases [RCV000141490] Chr4:173989029..189975519 [GRCh38]
Chr4:174910180..190828225 [GRCh37]
Chr4:175146755..191133668 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
GRCh38/hg38 4q32.3-34.3(chr4:166630207-179820960) copy number loss See cases [RCV000141653] Chr4:166630207..179820960 [GRCh38]
Chr4:167551358..180742113 [GRCh37]
Chr4:167770808..180979107 [NCBI36]
Chr4:4q32.3-34.3
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1 copy number loss See cases [RCV000142368] Chr4:168970400..186936738 [GRCh38]
Chr4:169891551..187857892 [GRCh37]
Chr4:170128126..188094886 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1 copy number loss See cases [RCV000143079] Chr4:172501374..190095332 [GRCh38]
Chr4:173422525..190828225 [GRCh37]
Chr4:173659100..191250468 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3 copy number gain See cases [RCV000143331] Chr4:168119317..190095391 [GRCh38]
Chr4:169040468..190828225 [GRCh37]
Chr4:169277043..191250527 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1 copy number loss See cases [RCV000143232] Chr4:170899124..190036318 [GRCh38]
Chr4:171820275..190957473 [GRCh37]
Chr4:172056850..191194467 [NCBI36]
Chr4:4q33-35.2
pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2
pathogenic
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 copy number gain See cases [RCV000240245] Chr4:136912336..184253252 [GRCh37]
Chr4:4q28.3-35.1
pathogenic
NM_000860.6(HPGD):c.*132G>A single nucleotide variant Digital clubbing, isolated congenital [RCV000260691]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000313515] Chr4:174491824 [GRCh38]
Chr4:175412975 [GRCh37]
Chr4:4q34.1
benign|likely benign
NM_001256301.1(HPGD):c.-319G>C single nucleotide variant Digital clubbing, isolated congenital [RCV000322374]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000264897] Chr4:174522672 [GRCh38]
Chr4:175443823 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.*798del deletion Digital clubbing, isolated congenital [RCV000300573]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000264069] Chr4:174491158 [GRCh38]
Chr4:175412309 [GRCh37]
Chr4:4q34.1
uncertain significance
GRCh37/hg19 4q32.2-34.2(chr4:162344510-177103037)x1 copy number loss See cases [RCV000239855] Chr4:162344510..177103037 [GRCh37]
Chr4:4q32.2-34.2
pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2
pathogenic
NM_000860.6(HPGD):c.*95C>G single nucleotide variant Digital clubbing, isolated congenital [RCV000370627]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000273756] Chr4:174491861 [GRCh38]
Chr4:175413012 [GRCh37]
Chr4:4q34.1
likely benign|uncertain significance
NM_000860.6(HPGD):c.*1203A>C single nucleotide variant Digital clubbing, isolated congenital [RCV000373634]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000279100] Chr4:174490753 [GRCh38]
Chr4:175411904 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.489C>T (p.Arg163=) single nucleotide variant Digital clubbing, isolated congenital [RCV000406069]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000280207]|not provided [RCV000946822] Chr4:174495557 [GRCh38]
Chr4:175416708 [GRCh37]
Chr4:4q34.1
benign|likely benign
NM_000860.6(HPGD):c.520A>C (p.Ser174Arg) single nucleotide variant Digital clubbing, isolated congenital [RCV000338632]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000281309] Chr4:174493293 [GRCh38]
Chr4:175414444 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_001256301.1(HPGD):c.-319G>A single nucleotide variant Digital clubbing, isolated congenital [RCV000281641]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000373884] Chr4:174522672 [GRCh38]
Chr4:175443823 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.*1246G>A single nucleotide variant Digital clubbing, isolated congenital [RCV000318882]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000282572] Chr4:174490710 [GRCh38]
Chr4:175411861 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.*1725_*1726delinsAT indel Digital clubbing, isolated congenital [RCV000377809]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000283236] Chr4:174490230..174490231 [GRCh38]
Chr4:175411381..175411382 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.*1511A>G single nucleotide variant Digital clubbing, isolated congenital [RCV000325115]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000270106] Chr4:174490445 [GRCh38]
Chr4:175411596 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.*630G>A single nucleotide variant Digital clubbing, isolated congenital [RCV000330958]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000275824] Chr4:174491326 [GRCh38]
Chr4:175412477 [GRCh37]
Chr4:4q34.1
benign
NM_000860.6(HPGD):c.*1154T>C single nucleotide variant Digital clubbing, isolated congenital [RCV000352837]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000403493] Chr4:174490802 [GRCh38]
Chr4:175411953 [GRCh37]
Chr4:4q34.1
benign
NM_000860.6(HPGD):c.*679T>C single nucleotide variant Digital clubbing, isolated congenital [RCV000389037]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000315853] Chr4:174491277 [GRCh38]
Chr4:175412428 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.*418G>T single nucleotide variant Digital clubbing, isolated congenital [RCV000342874]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000287877] Chr4:174491538 [GRCh38]
Chr4:175412689 [GRCh37]
Chr4:4q34.1
benign
NM_000860.6(HPGD):c.*606_*609del deletion Digital clubbing, isolated congenital [RCV000385638]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000291238] Chr4:174491347..174491350 [GRCh38]
Chr4:175412498..175412501 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.*1400T>G single nucleotide variant Digital clubbing, isolated congenital [RCV000377022]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000322353] Chr4:174490556 [GRCh38]
Chr4:175411707 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.*207G>A single nucleotide variant Digital clubbing, isolated congenital [RCV000394521]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000340648] Chr4:174491749 [GRCh38]
Chr4:175412900 [GRCh37]
Chr4:4q34.1
likely benign|uncertain significance
NM_001256301.1(HPGD):c.-271+17T>C single nucleotide variant Digital clubbing, isolated congenital [RCV000323494]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000361823] Chr4:174522607 [GRCh38]
Chr4:175443758 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.680A>G (p.Asn227Ser) single nucleotide variant Digital clubbing, isolated congenital [RCV000376241]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000342547]|not provided [RCV000890095] Chr4:174492077 [GRCh38]
Chr4:175413228 [GRCh37]
Chr4:4q34.1
benign|uncertain significance
NM_001256301.1(HPGD):c.-451C>T single nucleotide variant Digital clubbing, isolated congenital [RCV000293553]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000402878] Chr4:174522804 [GRCh38]
Chr4:175443955 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.*968T>C single nucleotide variant Digital clubbing, isolated congenital [RCV000309643]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000395455] Chr4:174490988 [GRCh38]
Chr4:175412139 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_001256301.1(HPGD):c.-502G>C single nucleotide variant Digital clubbing, isolated congenital [RCV000346220]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000403099] Chr4:174522855 [GRCh38]
Chr4:175444006 [GRCh37]
Chr4:4q34.1
benign
NM_001256301.1(HPGD):c.-400C>T single nucleotide variant Digital clubbing, isolated congenital [RCV000294709]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000351963] Chr4:174522753 [GRCh38]
Chr4:175443904 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.*1514A>G single nucleotide variant Digital clubbing, isolated congenital [RCV000309998]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000364674] Chr4:174490442 [GRCh38]
Chr4:175411593 [GRCh37]
Chr4:4q34.1
likely benign|uncertain significance
NM_000860.6(HPGD):c.78G>A (p.Leu26=) single nucleotide variant Digital clubbing, isolated congenital [RCV000395849]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000310890] Chr4:174522374 [GRCh38]
Chr4:175443525 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.156G>A (p.Gln52=) single nucleotide variant Digital clubbing, isolated congenital [RCV000368531]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000311547] Chr4:174522005 [GRCh38]
Chr4:175443156 [GRCh37]
Chr4:4q34.1
benign
NM_000860.6(HPGD):c.*87A>G single nucleotide variant Digital clubbing, isolated congenital [RCV000383184]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000330903] Chr4:174491869 [GRCh38]
Chr4:175413020 [GRCh37]
Chr4:4q34.1
likely benign|uncertain significance
NM_001256301.1(HPGD):c.-271+50C>T single nucleotide variant Digital clubbing, isolated congenital [RCV000363117]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000270935] Chr4:174522574 [GRCh38]
Chr4:175443725 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.*749A>G single nucleotide variant Digital clubbing, isolated congenital [RCV000355416]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000260373] Chr4:174491207 [GRCh38]
Chr4:175412358 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.*54A>T single nucleotide variant Digital clubbing, isolated congenital [RCV000324916]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000272224] Chr4:174491902 [GRCh38]
Chr4:175413053 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.*1726C>T single nucleotide variant Digital clubbing, isolated congenital [RCV000287968]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000324302] Chr4:174490230 [GRCh38]
Chr4:175411381 [GRCh37]
Chr4:4q34.1
benign
NM_000860.6(HPGD):c.*1725G>A single nucleotide variant Digital clubbing, isolated congenital [RCV000338239]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000406534] Chr4:174490231 [GRCh38]
Chr4:175411382 [GRCh37]
Chr4:4q34.1
benign
NM_000860.6(HPGD):c.*1478C>T single nucleotide variant Digital clubbing, isolated congenital [RCV000361120]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000266483] Chr4:174490478 [GRCh38]
Chr4:175411629 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.*1618A>T single nucleotide variant Digital clubbing, isolated congenital [RCV000334697]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000279600] Chr4:174490338 [GRCh38]
Chr4:175411489 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.433G>A (p.Val145Ile) single nucleotide variant Digital clubbing, isolated congenital [RCV001151010]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV001151009]|not provided [RCV000406545] Chr4:174495613 [GRCh38]
Chr4:175416764 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.*248A>G single nucleotide variant Digital clubbing, isolated congenital [RCV000302133]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000403581] Chr4:174491708 [GRCh38]
Chr4:175412859 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.*941C>T single nucleotide variant Digital clubbing, isolated congenital [RCV000395457]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000345723] Chr4:174491015 [GRCh38]
Chr4:175412166 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_001256301.1(HPGD):c.-333C>A single nucleotide variant Digital clubbing, isolated congenital [RCV000372582]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000315654] Chr4:174522686 [GRCh38]
Chr4:175443837 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.*510G>C single nucleotide variant Digital clubbing, isolated congenital [RCV000382196]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000346287] Chr4:174491446 [GRCh38]
Chr4:175412597 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.5(HPGD):c.-453A>G single nucleotide variant Digital clubbing, isolated congenital [RCV000318417]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000375321] Chr4:174522904 [GRCh38]
Chr4:175444055 [GRCh37]
Chr4:4q34.1
benign
NM_000860.6(HPGD):c.*1131C>T single nucleotide variant Digital clubbing, isolated congenital [RCV000349351]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000294439] Chr4:174490825 [GRCh38]
Chr4:175411976 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.*914A>G single nucleotide variant Digital clubbing, isolated congenital [RCV000306090]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000360781] Chr4:174491042 [GRCh38]
Chr4:175412193 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.*1556C>T single nucleotide variant Digital clubbing, isolated congenital [RCV000395771]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000368116] Chr4:174490400 [GRCh38]
Chr4:175411551 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.773C>A (p.Thr258Lys) single nucleotide variant Digital clubbing, isolated congenital [RCV000285360]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000382104] Chr4:174491984 [GRCh38]
Chr4:175413135 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.421G>A (p.Gly141Arg) single nucleotide variant Digital clubbing, isolated congenital [RCV000351578]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000395853] Chr4:174508696 [GRCh38]
Chr4:175429847 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.*157A>G single nucleotide variant Digital clubbing, isolated congenital [RCV000300832]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000353384] Chr4:174491799 [GRCh38]
Chr4:175412950 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.*1584A>G single nucleotide variant Digital clubbing, isolated congenital [RCV000313619]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000395778] Chr4:174490372 [GRCh38]
Chr4:175411523 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.446C>G (p.Pro149Arg) single nucleotide variant Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV000735693] Chr4:174495600 [GRCh38]
Chr4:175416751 [GRCh37]
Chr4:4q34.1
likely pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:167413365-190957473)x1 copy number loss See cases [RCV000446115] Chr4:167413365..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:166735148-190957473)x3 copy number gain See cases [RCV000446531] Chr4:166735148..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q34.1(chr4:175325630-175904098)x1 copy number loss See cases [RCV000446686] Chr4:175325630..175904098 [GRCh37]
Chr4:4q34.1
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3 copy number gain See cases [RCV000510222] Chr4:166436844..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 copy number gain See cases [RCV000510713] Chr4:153890440..190957473 [GRCh37]
Chr4:4q31.3-35.2
pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2
pathogenic
GRCh37/hg19 4q34.1(chr4:174478959-175855409)x1 copy number loss See cases [RCV000511222] Chr4:174478959..175855409 [GRCh37]
Chr4:4q34.1
uncertain significance
GRCh37/hg19 4q34.1-34.2(chr4:173907396-176305880)x4 copy number gain See cases [RCV000510908] Chr4:173907396..176305880 [GRCh37]
Chr4:4q34.1-34.2
uncertain significance
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2
pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3 copy number gain See cases [RCV000512542] Chr4:156465633..190957473 [GRCh37]
Chr4:4q32.1-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q32.2-34.3(chr4:162205710-182329883)x1 copy number loss See cases [RCV000512340] Chr4:162205710..182329883 [GRCh37]
Chr4:4q32.2-34.3
pathogenic
GRCh37/hg19 4q32.1-35.1(chr4:157552397-183831253)x3 copy number gain not provided [RCV000682475] Chr4:157552397..183831253 [GRCh37]
Chr4:4q32.1-35.1
pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3 copy number gain not provided [RCV000682478] Chr4:159492464..190957473 [GRCh37]
Chr4:4q32.1-35.2
pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:169969014-190957473)x1 copy number loss not provided [RCV000682484] Chr4:169969014..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
GRCh37/hg19 4q34.1(chr4:175403118-175491958)x1 copy number loss not provided [RCV000682490] Chr4:175403118..175491958 [GRCh37]
Chr4:4q34.1
uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1 copy number loss not provided [RCV000845722] Chr4:166623890..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_000860.6(HPGD):c.522T>C (p.Ser174=) single nucleotide variant not provided [RCV000918312] Chr4:174493291 [GRCh38]
Chr4:175414442 [GRCh37]
Chr4:4q34.1
benign
NM_000860.6(HPGD):c.606A>G (p.Gln202=) single nucleotide variant Digital clubbing, isolated congenital [RCV001147670]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV001147671]|not provided [RCV000980305] Chr4:174493207 [GRCh38]
Chr4:175414358 [GRCh37]
Chr4:4q34.1
benign|uncertain significance
NM_000860.6(HPGD):c.*636T>C single nucleotide variant Digital clubbing, isolated congenital [RCV001146668]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV001146669] Chr4:174491320 [GRCh38]
Chr4:175412471 [GRCh37]
Chr4:4q34.1
likely benign
NM_000860.6(HPGD):c.658T>C (p.Leu220=) single nucleotide variant not provided [RCV000923702] Chr4:174493155 [GRCh38]
Chr4:175414306 [GRCh37]
Chr4:4q34.1
likely benign
NM_000860.6(HPGD):c.432C>T (p.Pro144=) single nucleotide variant Digital clubbing, isolated congenital [RCV001151012]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV001151011]|not provided [RCV000902327] Chr4:174495614 [GRCh38]
Chr4:175416765 [GRCh37]
Chr4:4q34.1
benign|likely benign
GRCh37/hg19 4q34.1-35.2(chr4:174610492-190427545) copy number loss not provided [RCV000767793] Chr4:174610492..190427545 [GRCh37]
Chr4:4q34.1-35.2
pathogenic
NM_000860.6(HPGD):c.662A>T (p.Asp221Val) single nucleotide variant not provided [RCV000906296] Chr4:174493151 [GRCh38]
Chr4:175414302 [GRCh37]
Chr4:4q34.1
likely benign
GRCh37/hg19 4q33-35.2(chr4:171663620-190431429) copy number loss not provided [RCV000767673] Chr4:171663620..190431429 [GRCh37]
Chr4:4q33-35.2
pathogenic
GRCh37/hg19 4q32.3-34.2(chr4:165069355-177189728)x3 copy number gain not provided [RCV000846267] Chr4:165069355..177189728 [GRCh37]
Chr4:4q32.3-34.2
pathogenic
NM_000860.6(HPGD):c.*438A>G single nucleotide variant Digital clubbing, isolated congenital [RCV001147578]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV001147577] Chr4:174491518 [GRCh38]
Chr4:175412669 [GRCh37]
Chr4:4q34.1
likely benign
NM_000860.6(HPGD):c.*1066G>A single nucleotide variant Digital clubbing, isolated congenital [RCV001150816]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV001150817] Chr4:174490890 [GRCh38]
Chr4:175412041 [GRCh37]
Chr4:4q34.1
likely benign
NM_000860.6(HPGD):c.*1044T>A single nucleotide variant Digital clubbing, isolated congenital [RCV001150819]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV001150818] Chr4:174490912 [GRCh38]
Chr4:175412063 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.721G>A (p.Ala241Thr) single nucleotide variant Digital clubbing, isolated congenital [RCV001146771]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV001146770] Chr4:174492036 [GRCh38]
Chr4:175413187 [GRCh37]
Chr4:4q34.1
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787439] Chr4:171316973..180632505 [GRCh37]
Chr4:4q33-34.3
pathogenic
NM_000860.6(HPGD):c.447G>A (p.Pro149=) single nucleotide variant Digital clubbing, isolated congenital [RCV001151008]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV001151007] Chr4:174495599 [GRCh38]
Chr4:175416750 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.501G>T (p.Leu167Phe) single nucleotide variant Digital clubbing, isolated congenital [RCV001147673]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV001147672] Chr4:174493312 [GRCh38]
Chr4:175414463 [GRCh37]
Chr4:4q34.1
uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3 copy number gain not provided [RCV000847360] Chr4:169607746..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 copy number gain not provided [RCV000849098] Chr4:151174061..190957473 [GRCh37]
Chr4:4q31.3-35.2
pathogenic
NM_000860.6(HPGD):c.313C>T (p.Gln105Ter) single nucleotide variant Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV001250392] Chr4:174517982 [GRCh38]
Chr4:175439133 [GRCh37]
Chr4:4q34.1
pathogenic
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1
pathogenic
NM_000860.6(HPGD):c.34G>A (p.Gly12Ser) single nucleotide variant Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV001250391] Chr4:174522418 [GRCh38]
Chr4:175443569 [GRCh37]
Chr4:4q34.1
pathogenic
NM_000860.6(HPGD):c.*648A>T single nucleotide variant Digital clubbing, isolated congenital [RCV001146667]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV001146666] Chr4:174491308 [GRCh38]
Chr4:175412459 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.*819T>C single nucleotide variant Digital clubbing, isolated congenital [RCV001144705]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV001144704] Chr4:174491137 [GRCh38]
Chr4:175412288 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.*451A>G single nucleotide variant Digital clubbing, isolated congenital [RCV001147575]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV001147576] Chr4:174491505 [GRCh38]
Chr4:175412656 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.634G>A (p.Asp212Asn) single nucleotide variant Digital clubbing, isolated congenital [RCV001146772]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV001147669]|not provided [RCV000956267] Chr4:174493179 [GRCh38]
Chr4:175414330 [GRCh37]
Chr4:4q34.1
benign
NM_000860.6(HPGD):c.397A>G (p.Ile133Val) single nucleotide variant Digital clubbing, isolated congenital [RCV001145214]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV001145213] Chr4:174508720 [GRCh38]
Chr4:175429871 [GRCh37]
Chr4:4q34.1
uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1 copy number loss not provided [RCV001005612] Chr4:165010461..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
NM_000860.6(HPGD):c.*1594A>G single nucleotide variant Digital clubbing, isolated congenital [RCV001144614]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV001144613] Chr4:174490362 [GRCh38]
Chr4:175411513 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.*1643A>G single nucleotide variant Digital clubbing, isolated congenital [RCV001144612]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV001150708] Chr4:174490313 [GRCh38]
Chr4:175411464 [GRCh37]
Chr4:4q34.1
likely benign
NM_000860.6(HPGD):c.*1450C>T single nucleotide variant Digital clubbing, isolated congenital [RCV001146549]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV001146550] Chr4:174490506 [GRCh38]
Chr4:175411657 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.*709A>C single nucleotide variant Digital clubbing, isolated congenital [RCV001144706]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV001146665] Chr4:174491247 [GRCh38]
Chr4:175412398 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.*41A>G single nucleotide variant Digital clubbing, isolated congenital [RCV001144805]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV001146769] Chr4:174491915 [GRCh38]
Chr4:175413066 [GRCh37]
Chr4:4q34.1
uncertain significance
NM_000860.6(HPGD):c.307del (p.Thr103fs) deletion Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 [RCV001334593] Chr4:174517988 [GRCh38]
Chr4:175439139 [GRCh37]
Chr4:4q34.1
pathogenic
GRCh37/hg19 4q32.3-35.1(chr4:169108358-184425536)x1 copy number loss See cases [RCV001263167] Chr4:169108358..184425536 [GRCh37]
Chr4:4q32.3-35.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5154 AgrOrtholog
COSMIC HPGD COSMIC
Ensembl Genes ENSG00000164120 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000296521 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000296522 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000398720 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000420892 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000422418 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000423066 UniProtKB/TrEMBL
  ENSP00000423110 UniProtKB/TrEMBL
  ENSP00000425741 UniProtKB/TrEMBL
  ENSP00000427699 UniProtKB/TrEMBL
  ENSP00000438017 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000443644 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000296521 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000296522 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000422112 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000504433 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000506910 UniProtKB/TrEMBL
  ENST00000508330 UniProtKB/TrEMBL
  ENST00000510835 UniProtKB/TrEMBL
  ENST00000510901 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000514584 UniProtKB/TrEMBL
  ENST00000541923 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000542498 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000164120 GTEx
HGNC ID HGNC:5154 ENTREZGENE
Human Proteome Map HPGD Human Proteome Map
InterPro NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sc_DH/Rdtase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SDR_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3248 UniProtKB/Swiss-Prot
NCBI Gene 3248 ENTREZGENE
OMIM 119900 OMIM
  259100 OMIM
  601688 OMIM
Pfam adh_short UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29424 PharmGKB
PRINTS GDHRDH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SDRFAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ADH_SHORT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D6RA66_HUMAN UniProtKB/TrEMBL
  D6RA83_HUMAN UniProtKB/TrEMBL
  D6RHF8_HUMAN UniProtKB/TrEMBL
  E9PBZ2_HUMAN UniProtKB/TrEMBL
  E9PD69_HUMAN UniProtKB/TrEMBL
  P15428 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B4DTA4 UniProtKB/Swiss-Prot
  B4DU74 UniProtKB/Swiss-Prot
  B4DV57 UniProtKB/Swiss-Prot
  D3DP43 UniProtKB/Swiss-Prot
  E7EV11 UniProtKB/Swiss-Prot
  O00749 UniProtKB/Swiss-Prot
  Q06F08 UniProtKB/Swiss-Prot
  Q12998 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-08-08 HPGD  15-hydroxyprostaglandin dehydrogenase  HPGD  hydroxyprostaglandin dehydrogenase 15-(NAD)  Symbol and/or name change 5135510 APPROVED