PARK7 (Parkinsonism associated deglycase) - Rat Genome Database

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Gene: PARK7 (Parkinsonism associated deglycase) Homo sapiens
Analyze
Symbol: PARK7
Name: Parkinsonism associated deglycase
RGD ID: 1344212
HGNC Page HGNC:16369
Description: Enables several functions, including enzyme activator activity; enzyme binding activity; and transition metal ion binding activity. Involved in several processes, including negative regulation of apoptotic signaling pathway; regulation of protein modification process; and response to hydrogen peroxide. Located in several cellular components, including PML body; mitochondrion; and perinuclear region of cytoplasm. Implicated in Parkinson's disease; Parkinson's disease 7; Parkinsonism; cerebral infarction; and middle cerebral artery infarction.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DJ-1; DJ1; epididymis secretory sperm binding protein Li 67p; FLJ27376; FLJ34360; FLJ92274; GATD2; HEL-S-67p; maillard deglycase; oncogene DJ1; Parkinson disease (autosomal recessive, early onset) 7; Parkinson disease protein 7; parkinson protein 7; protein/nucleic acid deglycase DJ-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: PARK7P1   PARK7P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3817,961,711 - 7,985,505 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl17,954,291 - 7,985,505 (+)EnsemblGRCh38hg38GRCh38
GRCh3718,021,771 - 8,045,565 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3617,944,380 - 7,967,926 (+)NCBINCBI36Build 36hg18NCBI36
Build 3417,956,058 - 7,979,602NCBI
Celera17,128,771 - 7,152,398 (+)NCBICelera
Cytogenetic Map1p36.23NCBI
HuRef17,169,316 - 7,193,163 (+)NCBIHuRef
CHM1_118,009,469 - 8,033,097 (+)NCBICHM1_1
T2T-CHM13v2.017,492,675 - 7,516,444 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (ISO)
(1->4)-beta-D-glucan  (ISO)
(R,R,R)-alpha-tocopherol  (EXP)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-bromopropane  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
15-deoxy-Delta(12,14)-prostaglandin J2  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-amino-14,16-dimethyloctadecan-3-ol  (EXP)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-phenylbutyric acid  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenic trichloride  (EXP)
arsenite(3-)  (EXP,ISO)
astemizole  (ISO)
benomyl  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP)
beta-lapachone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromobenzene  (ISO)
butyric acid  (EXP,ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
cannabidiol  (EXP)
captan  (EXP)
CCCP  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
chromium trinitrate  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP,ISO)
clozapine  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
crocidolite asbestos  (EXP)
Cuprizon  (EXP,ISO)
DDE  (EXP)
dexamethasone  (ISO)
diazinon  (EXP,ISO)
dibenziodolium  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
Dienochlor  (EXP)
disodium selenite  (EXP)
dithianon  (EXP)
diuron  (EXP)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
fenazaquin  (ISO)
fenpyroximate  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
folpet  (EXP)
formetanate  (EXP)
gamma-hexachlorocyclohexane  (EXP)
Garcinol  (EXP)
glutathione  (EXP)
glyphosate  (ISO)
haloperidol  (ISO)
heparin  (ISO)
hydralazine  (EXP)
hydrogen peroxide  (EXP,ISO)
inulin  (ISO)
isoniazide  (ISO)
ivermectin  (EXP)
lactacystin  (EXP)
lipopolysaccharide  (ISO)
lutein  (ISO)
LY294002  (ISO)
mancozeb  (EXP)
maneb  (EXP)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
meloxicam  (EXP)
mercury atom  (EXP)
mercury(0)  (EXP)
N,N-diethyl-m-toluamide  (ISO)
N-acetyl-L-cysteine  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP,ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-nitrosomorpholine  (ISO)
nicotine  (ISO)
ouabain  (ISO)
oxamyl  (EXP)
oxidopamine  (EXP,ISO)
p-menthan-3-ol  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
perfluorododecanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (ISO)
phlorizin  (ISO)
pirimiphos-methyl  (EXP)
potassium chromate  (ISO)
propineb  (EXP)
prostaglandin E2  (ISO)
pyridaben  (ISO)
Pyridostigmine bromide  (ISO)
pyrimidifen  (EXP)
quercetin  (ISO)
quercetin 3-O-beta-D-glucofuranoside  (ISO)
quercetin 3-O-beta-D-glucopyranoside  (ISO)
raloxifene  (ISO)
resmethrin  (EXP)
rotenone  (EXP,ISO)
rutin  (ISO)
sarin  (EXP,ISO)
SB 203580  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
superoxide  (ISO)
T-2 toxin  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
toluene  (ISO)
trans-piceid  (EXP)
Tri-allate  (EXP)
Tributyltin oxide  (ISO)
tungsten  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
zineb  (EXP)
ziram  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adult locomotory behavior  (IEA,ISO)
androgen receptor signaling pathway  (IMP)
autophagy  (IEA)
cellular detoxification of aldehyde  (IDA)
cellular detoxification of methylglyoxal  (IDA)
cellular oxidant detoxification  (IEA)
cellular response to glyoxal  (IDA,IEA)
cellular response to hydrogen peroxide  (IMP)
cellular response to hypoxia  (ISO)
cellular response to lipopolysaccharide  (ISO)
cellular response to oxidative stress  (IDA,IEA,IMP)
cellular response to reactive oxygen species  (IEA,ISO)
detection of oxidative stress  (IEA)
detoxification of copper ion  (IEA,IMP)
detoxification of hydrogen peroxide  (IDA)
detoxification of mercury ion  (IEA)
DNA repair  (IDA,IEA)
dopamine uptake involved in synaptic transmission  (IEA,ISO)
glucose homeostasis  (IEA,ISS)
glycolate biosynthetic process  (IBA,IDA,IEA)
glyoxal catabolic process  (IEA)
glyoxal metabolic process  (IBA,IDA,IEA)
guanine deglycation  (IDA)
guanine deglycation, glyoxal removal  (IDA)
guanine deglycation, methylglyoxal removal  (IDA)
hydrogen peroxide metabolic process  (IDA,IEA,ISO)
inflammatory response  (IEA)
insulin secretion  (IEA,ISS)
lactate biosynthetic process  (IDA)
maternal process involved in female pregnancy  (ISO)
membrane depolarization  (IEA,ISO)
membrane hyperpolarization  (IEA,ISO)
methylglyoxal catabolic process to lactate  (IDA)
methylglyoxal metabolic process  (IDA)
mitochondrion organization  (IEA,ISS)
negative regulation of cellular process  (ISO)
negative regulation of death-inducing signaling complex assembly  (IMP)
negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  (IEA,IGI)
negative regulation of extrinsic apoptotic signaling pathway  (IMP)
negative regulation of gene expression  (IDA)
negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway  (IEA,IGI)
negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide  (IDA,IEA)
negative regulation of neuron apoptotic process  (IDA)
negative regulation of nitrosative stress-induced intrinsic apoptotic signaling pathway  (IDA)
negative regulation of NMDA glutamate receptor activity  (ISO)
negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway  (IDA,IEA)
negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway  (IDA,IEA,IMP)
negative regulation of proteasomal ubiquitin-dependent protein catabolic process  (IDA)
negative regulation of protein acetylation  (IDA)
negative regulation of protein catabolic process  (IEA)
negative regulation of protein export from nucleus  (IGI)
negative regulation of protein K48-linked deubiquitination  (IDA)
negative regulation of protein phosphorylation  (IGI)
negative regulation of protein sumoylation  (IDA)
negative regulation of protein ubiquitination  (IDA,IEA)
negative regulation of reactive oxygen species biosynthetic process  (IEA,ISS)
negative regulation of smooth muscle cell migration  (ISO)
negative regulation of TRAIL-activated apoptotic signaling pathway  (IMP)
negative regulation of vascular associated smooth muscle cell proliferation  (ISO)
positive regulation of acute inflammatory response to antigenic stimulus  (IEA,ISS)
positive regulation of autophagy of mitochondrion  (NAS)
positive regulation of dopamine biosynthetic process  (IC,IDA)
positive regulation of fertilization  (ISO)
positive regulation of gene expression  (IEA,TAS)
positive regulation of interleukin-8 production  (IDA)
positive regulation of L-dopa biosynthetic process  (IMP)
positive regulation of mitochondrial electron transport, NADH to ubiquinone  (IEA,IMP)
positive regulation of NAD(P)H oxidase activity  (ISO)
positive regulation of oxidative phosphorylation uncoupler activity  (ISO)
positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway  (IEA,ISO)
positive regulation of peptidyl-serine phosphorylation  (IMP)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IC,IMP)
positive regulation of protein localization to nucleus  (IDA,IMP)
positive regulation of protein-containing complex assembly  (IDA)
positive regulation of reactive oxygen species biosynthetic process  (IEA,ISO)
positive regulation of reactive oxygen species metabolic process  (IDA)
positive regulation of transcription by RNA polymerase II  (IDA,IEA,IGI,IMP)
protein repair  (IDA)
protein stabilization  (IDA,IEA,IMP)
proteolysis  (IEA)
Ras protein signal transduction  (TAS)
regulation of androgen receptor signaling pathway  (IDA)
regulation of inflammatory response  (IEA,ISS)
regulation of mitochondrial membrane potential  (IMP)
regulation of neuron apoptotic process  (IDA)
regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway  (IDA)
regulation of supramolecular fiber organization  (TAS)
regulation of synaptic vesicle endocytosis  (IEA)
regulation of TRAIL production  (IMP)
removal of superoxide radicals  (IDA)
response to hydrogen peroxide  (IEA,ISO)
response to oxidative stress  (IBA,IEA,ISO)
response to xenobiotic stimulus  (ISO)
single fertilization  (IEA)
spermatogenesis  (ISO)
synaptic transmission, dopaminergic  (IEA,ISO)

Cellular Component

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

References - curated
# Reference Title Reference Citation
1. The Parkinson's disease gene DJ-1 is also a key regulator of stroke-induced damage. Aleyasin H, etal., Proc Natl Acad Sci U S A. 2007 Nov 20;104(47):18748-53. doi: 10.1073/pnas.0709379104. Epub 2007 Nov 14.
2. Neuroprotective function of DJ-1 in Parkinson's disease. Ariga H, etal., Oxid Med Cell Longev. 2013;2013:683920. doi: 10.1155/2013/683920. Epub 2013 May 16.
3. Phenotypic characterization of recessive gene knockout rat models of Parkinson's disease. Dave KD, etal., Neurobiol Dis. 2014 Oct;70:190-203. doi: 10.1016/j.nbd.2014.06.009. Epub 2014 Jun 24.
4. Up-regulation of caveolin-1 by DJ-1 attenuates rat pulmonary arterial hypertension by inhibiting TGFβ/Smad signaling pathway. Gao W, etal., Exp Cell Res. 2017 Dec 1;361(1):192-198. doi: 10.1016/j.yexcr.2017.10.019. Epub 2017 Oct 22.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. Protection against dopaminergic neurodegeneration in Parkinson's disease-model animals by a modulator of the oxidized form of DJ-1, a wild-type of familial Parkinson's disease-linked PARK7. Inden M, etal., J Pharmacol Sci. 2011;117(3):189-203. Epub 2011 Oct 29.
7. PARK7 DJ-1 protects against degeneration of nigral dopaminergic neurons in Parkinson's disease rat model. Inden M, etal., Neurobiol Dis. 2006 Oct;24(1):144-58. Epub 2006 Jul 24.
8. L166P mutant DJ-1, causative for recessive Parkinson's disease, is degraded through the ubiquitin-proteasome system. Miller DW, etal., J Biol Chem. 2003 Sep 19;278(38):36588-95. Epub 2003 Jul 8.
9. DJ-1-binding compounds prevent oxidative stress-induced cell death and movement defect in Parkinson's disease model rats. Miyazaki S, etal., J Neurochem. 2008 Jun 1;105(6):2418-34. doi: 10.1111/j.1471-4159.2008.05327.x.
10. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
11. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
12. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
14. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
15. Rotenone-induced parkinsonism elicits behavioral impairments and differential expression of parkin, heat shock proteins and caspases in the rat. Sonia Angeline M, etal., Neuroscience. 2012 Sep 18;220:291-301. doi: 10.1016/j.neuroscience.2012.06.021. Epub 2012 Jun 16.
16. Regulation of dopamine presynaptic markers and receptors in the striatum of DJ-1 and Pink1 knockout rats. Sun J, etal., Neurosci Lett. 2013 Dec 17;557 Pt B:123-8. doi: 10.1016/j.neulet.2013.10.034. Epub 2013 Oct 22.
17. DJ-1 protects against neurodegeneration caused by focal cerebral ischemia and reperfusion in rats. Yanagisawa D, etal., J Cereb Blood Flow Metab. 2008 Mar;28(3):563-78. doi: 10.1038/sj.jcbfm.9600553. Epub 2007 Sep 19.
Additional References at PubMed
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PMID:27544688   PMID:27582551   PMID:27592010   PMID:27611333   PMID:27664330   PMID:27684187   PMID:27703196   PMID:27734217   PMID:27903648   PMID:27975168   PMID:28013050   PMID:28245986  
PMID:28330616   PMID:28330770   PMID:28374920   PMID:28458339   PMID:28506137   PMID:28515276   PMID:28580701   PMID:28581483   PMID:28596309   PMID:28600848   PMID:28618925   PMID:28653888  
PMID:28705587   PMID:28844983   PMID:28873462   PMID:28932933   PMID:28954246   PMID:28963699   PMID:28986522   PMID:28993701   PMID:29016861   PMID:29031599   PMID:29100048   PMID:29115508  
PMID:29128334   PMID:29147901   PMID:29147902   PMID:29147903   PMID:29147908   PMID:29147909   PMID:29147911   PMID:29175327   PMID:29177768   PMID:29229926   PMID:29258409   PMID:29315581  
PMID:29358306   PMID:29441509   PMID:29447925   PMID:29467282   PMID:29476075   PMID:29540532   PMID:29559831   PMID:29675578   PMID:29697269   PMID:29721921   PMID:29849492   PMID:29932913  
PMID:29955894   PMID:29976090   PMID:30048497   PMID:30133157   PMID:30150385   PMID:30158634   PMID:30190129   PMID:30260001   PMID:30523224   PMID:30536064   PMID:30542343   PMID:30575818  
PMID:30631154   PMID:30755590   PMID:30884312   PMID:30890647   PMID:30894531   PMID:30948266   PMID:31046837   PMID:31048545   PMID:31054074   PMID:31091453   PMID:31197129   PMID:31232473  
PMID:31253590   PMID:31313616   PMID:31332168   PMID:31353306   PMID:31405213   PMID:31474749   PMID:31512170   PMID:31536960   PMID:31586073   PMID:31594818   PMID:31598935   PMID:31653696  
PMID:31701024   PMID:31704823   PMID:31767755   PMID:31868268   PMID:31871319   PMID:31891690   PMID:31980649   PMID:32132307   PMID:32144268   PMID:32319588   PMID:32363780   PMID:32416067  
PMID:32417759   PMID:32445781   PMID:32457219   PMID:32513696   PMID:32534165   PMID:32552912   PMID:32627002   PMID:32640226   PMID:32707033   PMID:32741527   PMID:32807901   PMID:32814053  
PMID:32814486   PMID:32941674   PMID:32959108   PMID:32963011   PMID:32963695   PMID:33024240   PMID:33045815   PMID:33079995   PMID:33188296   PMID:33301849   PMID:33306668   PMID:33433409  
PMID:33501750   PMID:33545068   PMID:33751372   PMID:33795807   PMID:33819447   PMID:33845304   PMID:33916271   PMID:33957083   PMID:33967623   PMID:34206441   PMID:34225587   PMID:34272410  
PMID:34316702   PMID:34374892   PMID:34383978   PMID:34428256   PMID:34591612   PMID:34593886   PMID:34605055   PMID:34680099   PMID:34709727   PMID:34732716   PMID:34800366   PMID:34831132  
PMID:34901782   PMID:34918581   PMID:34971908   PMID:35032548   PMID:35124661   PMID:35190654   PMID:35256949   PMID:35271311   PMID:35384245   PMID:35429577   PMID:35446349   PMID:35546148  
PMID:35562734   PMID:35563538   PMID:35563738   PMID:35605658   PMID:35819319   PMID:35831314   PMID:35896699   PMID:35944360   PMID:36039535   PMID:36057605   PMID:36095012   PMID:36114006  
PMID:36180891   PMID:36215168   PMID:36305379   PMID:36410277   PMID:36517590   PMID:36586770   PMID:36603736   PMID:36634849   PMID:36762613   PMID:36768161   PMID:36820886   PMID:37059091  
PMID:37060572   PMID:37071682   PMID:37072827   PMID:37223481   PMID:37289979   PMID:37314216   PMID:37317656   PMID:37674036   PMID:37749450   PMID:37827155   PMID:38113892   PMID:38125697  
PMID:38189631   PMID:38460098   PMID:38580884   PMID:38943005  


Genomics

Comparative Map Data
PARK7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3817,961,711 - 7,985,505 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl17,954,291 - 7,985,505 (+)EnsemblGRCh38hg38GRCh38
GRCh3718,021,771 - 8,045,565 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3617,944,380 - 7,967,926 (+)NCBINCBI36Build 36hg18NCBI36
Build 3417,956,058 - 7,979,602NCBI
Celera17,128,771 - 7,152,398 (+)NCBICelera
Cytogenetic Map1p36.23NCBI
HuRef17,169,316 - 7,193,163 (+)NCBIHuRef
CHM1_118,009,469 - 8,033,097 (+)NCBICHM1_1
T2T-CHM13v2.017,492,675 - 7,516,444 (+)NCBIT2T-CHM13v2.0
Park7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394150,981,590 - 150,994,378 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4150,981,590 - 150,998,894 (-)EnsemblGRCm39 Ensembl
GRCm384150,897,133 - 150,909,921 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4150,897,133 - 150,914,437 (-)EnsemblGRCm38mm10GRCm38
MGSCv374150,271,242 - 150,284,030 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364149,740,942 - 149,753,650 (-)NCBIMGSCv36mm8
Celera4153,174,297 - 153,187,100 (-)NCBICelera
Cytogenetic Map4E2NCBI
cM Map481.52NCBI
Park7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85166,636,551 - 166,659,825 (-)NCBIGRCr8
mRatBN7.25161,353,718 - 161,376,993 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5161,353,719 - 161,376,970 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5164,071,138 - 164,094,398 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05165,887,564 - 165,910,960 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05165,849,775 - 165,873,035 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05167,982,438 - 168,004,724 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5167,982,439 - 168,004,724 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05171,559,202 - 171,582,476 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45168,050,149 - 168,061,616 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15168,060,336 - 168,071,804 (-)NCBI
Celera5159,607,648 - 159,630,713 (-)NCBICelera
Cytogenetic Map5q36NCBI
Park7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554864,969,497 - 4,985,885 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554864,974,130 - 4,985,927 (-)NCBIChiLan1.0ChiLan1.0
PARK7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21220,243,225 - 220,268,293 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11218,884,515 - 218,908,146 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v016,722,260 - 6,745,915 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.117,969,265 - 7,993,271 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl17,969,280 - 7,993,271 (+)Ensemblpanpan1.1panPan2
PARK7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1561,576,219 - 61,592,325 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl561,576,069 - 61,592,303 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha561,584,413 - 61,601,125 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0561,791,984 - 61,808,701 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl561,792,439 - 61,808,700 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1561,791,244 - 61,807,961 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0561,656,017 - 61,672,730 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0562,059,399 - 62,076,120 (+)NCBIUU_Cfam_GSD_1.0
Park7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505831,937,508 - 31,951,577 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366232,422,833 - 2,436,817 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366232,422,780 - 2,436,817 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PARK7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl668,629,214 - 68,645,516 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1668,629,327 - 68,645,147 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2663,023,779 - 63,033,855 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PARK7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120123,776,084 - 123,808,031 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20123,776,297 - 123,798,434 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605427,810,002 - 27,834,129 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Park7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248183,900,917 - 3,911,042 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248183,900,917 - 3,915,457 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PARK7
113 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_007262.5(PARK7):c.-24+344G>T single nucleotide variant not provided [RCV001643608] Chr1:7962137 [GRCh38]
Chr1:8022197 [GRCh37]
Chr1:1p36.23		 benign
nsv513788 deletion Autosomal recessive early-onset Parkinson disease 7 [RCV000007479] Chr1:8022846..8037799 [GRCh37]
Chr1:1p36.23		 pathogenic
NM_007262.5(PARK7):c.293G>A (p.Arg98Gln) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV001083472]|PARK7-related disorder [RCV003925652]|Renal cysts and diabetes syndrome [RCV001258287]|not provided [RCV000529085]|not specified [RCV001579430] Chr1:7970934 [GRCh38]
Chr1:8030994 [GRCh37]
Chr1:1p36.23		 benign|likely benign
NM_007262.5(PARK7):c.497T>C (p.Leu166Pro) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV000007480] Chr1:7984981 [GRCh38]
Chr1:8045041 [GRCh37]
Chr1:1p36.23		 pathogenic
NM_007262.5(PARK7):c.78G>A (p.Met26Ile) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV000007481] Chr1:7962863 [GRCh38]
Chr1:8022923 [GRCh37]
Chr1:1p36.23		 pathogenic
NM_007262.5(PARK7):c.446A>C (p.Asp149Ala) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV000007482] Chr1:7984930 [GRCh38]
Chr1:8044990 [GRCh37]
Chr1:1p36.23		 pathogenic|likely benign
NM_007262.5(PARK7):c.192G>C (p.Glu64Asp) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV000007483] Chr1:7965425 [GRCh38]
Chr1:8025485 [GRCh37]
Chr1:1p36.23		 pathogenic
NM_007262.5(PARK7):c.115G>T (p.Ala39Ser) single nucleotide variant Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 [RCV000007485] Chr1:7965348 [GRCh38]
Chr1:8025408 [GRCh37]
Chr1:1p36.23		 pathogenic
GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1 copy number loss See cases [RCV000051086] Chr1:2844760..8007940 [GRCh38]
Chr1:2761325..8068000 [GRCh37]
Chr1:2751185..7990587 [NCBI36]
Chr1:1p36.32-36.23		 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 1p36.33-36.23(chr1:859215-8747647)x1 copy number loss See cases [RCV000052045] Chr1:859215..8747647 [GRCh38]
Chr1:794595..8807706 [GRCh37]
Chr1:784458..8730293 [NCBI36]
Chr1:1p36.33-36.23		 pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1 copy number loss See cases [RCV000051993] Chr1:629025..8537745 [GRCh38]
Chr1:564405..8597804 [GRCh37]
Chr1:554268..8520391 [NCBI36]
Chr1:1p36.33-36.23		 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 1p36.32-36.23(chr1:3438149-8171914)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053718]|See cases [RCV000053718] Chr1:3438149..8171914 [GRCh38]
Chr1:3354713..8231974 [GRCh37]
Chr1:3344573..8154561 [NCBI36]
Chr1:1p36.32-36.23		 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
NM_007262.5(PARK7):c.399G>C (p.Met133Ile) single nucleotide variant Parkinson disease, late-onset [RCV000082873] Chr1:7977728 [GRCh38]
Chr1:8037788 [GRCh37]
Chr1:1p36.23		 uncertain significance
GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1 copy number loss See cases [RCV000136554] Chr1:844347..8171914 [GRCh38]
Chr1:779727..8231974 [GRCh37]
Chr1:769590..8154561 [NCBI36]
Chr1:1p36.33-36.23		 pathogenic
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 1p36.31-36.23(chr1:6763143-8367573)x1 copy number loss See cases [RCV000142706] Chr1:6763143..8367573 [GRCh38]
Chr1:6823203..8427633 [GRCh37]
Chr1:6745790..8350220 [NCBI36]
Chr1:1p36.31-36.23		 uncertain significance
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
NM_007262.5(PARK7):c.73G>A (p.Val25Ile) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV000395718] Chr1:7962858 [GRCh38]
Chr1:8022918 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.323-14A>G single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV000260186]|not provided [RCV001642918] Chr1:7977638 [GRCh38]
Chr1:8037698 [GRCh37]
Chr1:1p36.23		 benign|likely benign
NM_007262.5(PARK7):c.59T>C (p.Val20Ala) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV000367784] Chr1:7962844 [GRCh38]
Chr1:8022904 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.191_192del (p.Glu64fs) microsatellite Autosomal recessive early-onset Parkinson disease 7 [RCV001027964]|not provided [RCV000517567] Chr1:7965422..7965423 [GRCh38]
Chr1:8025482..8025483 [GRCh37]
Chr1:1p36.23		 pathogenic|likely pathogenic
Single allele complex Breast ductal adenocarcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11		 uncertain significance
chr1:909238-16736132 complex variant complex Breast ductal adenocarcinoma [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
NM_007262.5(PARK7):c.234C>T (p.Gly78=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV000555344]|Parkinson Disease, Recessive [RCV000354945]|not provided [RCV000712504]|not specified [RCV001529647] Chr1:7969386 [GRCh38]
Chr1:8029446 [GRCh37]
Chr1:1p36.23		 benign|likely benign
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
NM_007262.5(PARK7):c.*125G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV000355899] Chr1:7985179 [GRCh38]
Chr1:8045239 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.4(PARK7):c.-137G>A single nucleotide variant Parkinson Disease, Recessive [RCV000287311]|not provided [RCV001689983] Chr1:7961680 [GRCh38]
Chr1:8021740 [GRCh37]
Chr1:1p36.23		 benign|likely benign
NM_007262.5(PARK7):c.-99T>C single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV000405024]|not provided [RCV004713705] Chr1:7961718 [GRCh38]
Chr1:8021778 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.4(PARK7):c.-127G>C single nucleotide variant Parkinson Disease, Recessive [RCV000342264] Chr1:7961690 [GRCh38]
Chr1:8021750 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.-80T>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV000307378] Chr1:7961737 [GRCh38]
Chr1:8021797 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.-70C>T single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV000347071]|not provided [RCV001672413] Chr1:7961747 [GRCh38]
Chr1:8021807 [GRCh37]
Chr1:1p36.23		 benign|likely benign
NM_007262.5(PARK7):c.-22C>T single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV000313148]|not provided [RCV001612934]|not specified [RCV001289112] Chr1:7962764 [GRCh38]
Chr1:8022824 [GRCh37]
Chr1:1p36.23		 benign|likely benign
NM_007262.5(PARK7):c.223G>A (p.Gly75Ser) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV000314256] Chr1:7969375 [GRCh38]
Chr1:8029435 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.-30G>C single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV000405276] Chr1:7961787 [GRCh38]
Chr1:8021847 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.500C>G (p.Ala167Gly) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV000319811] Chr1:7984984 [GRCh38]
Chr1:8045044 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.91-4G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV000641701] Chr1:7965320 [GRCh38]
Chr1:8025380 [GRCh37]
Chr1:1p36.23		 likely benign
NM_007262.5(PARK7):c.*49A>G single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV001099354] Chr1:7985103 [GRCh38]
Chr1:8045163 [GRCh37]
Chr1:1p36.23		 uncertain significance
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 1p36.23(chr1:7997771-8255222)x3 copy number gain See cases [RCV000446114] Chr1:7997771..8255222 [GRCh37]
Chr1:1p36.23		 uncertain significance
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
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 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
PARK7, GLU163LYS AND 18-BP DUP duplication Parkinson disease 7 [RCV000007484] Chr1:1p36.23 pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1 copy number loss See cases [RCV000512568] Chr1:849466..8901938 [GRCh37]
Chr1:1p36.33-36.23		 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
NM_007262.5(PARK7):c.448G>A (p.Gly150Ser) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV000699924] Chr1:7984932 [GRCh38]
Chr1:8044992 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.511G>T (p.Ala171Ser) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV000706809] Chr1:7984995 [GRCh38]
Chr1:8045055 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.105dup (p.Ala36fs) duplication Autosomal recessive early-onset Parkinson disease 7 [RCV000694924]|not provided [RCV002223913] Chr1:7965336..7965337 [GRCh38]
Chr1:8025396..8025397 [GRCh37]
Chr1:1p36.23		 pathogenic
NC_000001.11:g.(?_7969325)_(7969424_?)del deletion Autosomal recessive early-onset Parkinson disease 7 [RCV000708516] Chr1:7969325..7969424 [GRCh38]
Chr1:8029385..8029484 [GRCh37]
Chr1:1p36.23		 pathogenic|likely 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 1p36.32-36.23(chr1:4965631-8106987)x1 copy number loss not provided [RCV000736366] Chr1:4965631..8106987 [GRCh37]
Chr1:1p36.32-36.23		 pathogenic
GRCh37/hg19 1p36.23(chr1:8020162-8022197)x0 copy number loss not provided [RCV000736379] Chr1:8020162..8022197 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.-23-4dup duplication not provided [RCV001539557] Chr1:7962740..7962741 [GRCh38]
Chr1:8022800..8022801 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.410-256_410-255del deletion not provided [RCV001667068] Chr1:7984637..7984638 [GRCh38]
Chr1:8044697..8044698 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.410-49T>C single nucleotide variant not provided [RCV001679124] Chr1:7984845 [GRCh38]
Chr1:8044905 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.166G>A (p.Ala56Thr) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV002064736]|not provided [RCV000873564] Chr1:7965399 [GRCh38]
Chr1:8025459 [GRCh37]
Chr1:1p36.23		 benign|likely benign
NM_007262.5(PARK7):c.189dup (p.Glu64fs) duplication not provided [RCV000761635] Chr1:7965415..7965416 [GRCh38]
Chr1:8025475..8025476 [GRCh37]
Chr1:1p36.23		 likely pathogenic
NM_007262.5(PARK7):c.218C>T (p.Pro73Leu) single nucleotide variant not provided [RCV000761636] Chr1:7969370 [GRCh38]
Chr1:8029430 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.-24+75_-24+92dup duplication not provided [RCV001644681] Chr1:7961850..7961851 [GRCh38]
Chr1:8021910..8021911 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.133C>T (p.Gln45Ter) single nucleotide variant Amyotrophic lateral sclerosis-parkinsonism-dementia complex [RCV001095538] Chr1:7965366 [GRCh38]
Chr1:8025426 [GRCh37]
Chr1:1p36.23		 pathogenic
NM_007262.5(PARK7):c.535G>A (p.Ala179Thr) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV001059800]|not provided [RCV001563335]|not specified [RCV003479275] Chr1:7985019 [GRCh38]
Chr1:8045079 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.501A>G (p.Ala167=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV000878685]|not provided [RCV003222163] Chr1:7984985 [GRCh38]
Chr1:8045045 [GRCh37]
Chr1:1p36.23		 benign|likely benign|conflicting interpretations of pathogenicity
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_007262.5(PARK7):c.90+1dup duplication Autosomal recessive early-onset Parkinson disease 7 [RCV000991412] Chr1:7962872..7962873 [GRCh38]
Chr1:8022932..8022933 [GRCh37]
Chr1:1p36.23		 likely pathogenic
NM_007262.5(PARK7):c.252+8dup duplication Autosomal recessive early-onset Parkinson disease 7 [RCV001078528]|not provided [RCV000835026] Chr1:7969406..7969407 [GRCh38]
Chr1:8029466..8029467 [GRCh37]
Chr1:1p36.23		 likely benign
NM_007262.5(PARK7):c.310G>A (p.Ala104Thr) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV000795779]|not provided [RCV004691298] Chr1:7970951 [GRCh38]
Chr1:8031011 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.91-11C>T single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV001097592] Chr1:7965313 [GRCh38]
Chr1:8025373 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.425C>T (p.Ser142Phe) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV001097595] Chr1:7984909 [GRCh38]
Chr1:8044969 [GRCh37]
Chr1:1p36.23		 uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787413] Chr1:554375..9779842 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
NM_007262.5(PARK7):c.252+30T>G single nucleotide variant not provided [RCV001609038] Chr1:7969434 [GRCh38]
Chr1:8029494 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.28C>G (p.Leu10Val) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV000797024] Chr1:7962813 [GRCh38]
Chr1:8022873 [GRCh37]
Chr1:1p36.23		 uncertain significance
NC_000001.10:g.(?_8022836)_(8031035_?)dup duplication Autosomal recessive early-onset Parkinson disease 7 [RCV000805924] Chr1:7962776..7970975 [GRCh38]
Chr1:8022836..8031035 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.91A>G (p.Ile31Val) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV001097593] Chr1:7965324 [GRCh38]
Chr1:8025384 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.436G>A (p.Val146Met) single nucleotide variant not provided [RCV001090797] Chr1:7984920 [GRCh38]
Chr1:8044980 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.410-9A>G single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV002548273]|not specified [RCV001664576] Chr1:7984885 [GRCh38]
Chr1:8044945 [GRCh37]
Chr1:1p36.23		 likely benign
NM_007262.5(PARK7):c.101C>T (p.Thr34Ile) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV001097594]|not provided [RCV000993895] Chr1:7965334 [GRCh38]
Chr1:8025394 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.322+6G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV003104506] Chr1:7970969 [GRCh38]
Chr1:8031029 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.252+45_252+46del deletion not provided [RCV001574417] Chr1:7969441..7969442 [GRCh38]
Chr1:8029501..8029502 [GRCh37]
Chr1:1p36.23		 likely benign
NM_007262.5(PARK7):c.253-109A>G single nucleotide variant not provided [RCV001653189] Chr1:7970785 [GRCh38]
Chr1:8030845 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.192+331C>T single nucleotide variant not provided [RCV001720386] Chr1:7965756 [GRCh38]
Chr1:8025816 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.193-149A>G single nucleotide variant not provided [RCV001636320] Chr1:7969196 [GRCh38]
Chr1:8029256 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.-24+120G>T single nucleotide variant not provided [RCV001645611] Chr1:7961913 [GRCh38]
Chr1:8021973 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.252+194del deletion not provided [RCV001639707] Chr1:7969585 [GRCh38]
Chr1:8029645 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.-23-50_-23-49del deletion not provided [RCV001716405] Chr1:7962713..7962714 [GRCh38]
Chr1:8022773..8022774 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.323-216G>A single nucleotide variant not provided [RCV001685591] Chr1:7977436 [GRCh38]
Chr1:8037496 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.-24+318C>T single nucleotide variant not provided [RCV001618918] Chr1:7962111 [GRCh38]
Chr1:8022171 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.409+274_409+276del deletion not provided [RCV001650549] Chr1:7977986..7977988 [GRCh38]
Chr1:8038046..8038048 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.410-161G>A single nucleotide variant not provided [RCV001537469] Chr1:7984733 [GRCh38]
Chr1:8044793 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.253-31C>T single nucleotide variant not provided [RCV001660737] Chr1:7970863 [GRCh38]
Chr1:8030923 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.67G>A (p.Val23Ile) single nucleotide variant not provided [RCV000993894] Chr1:7962852 [GRCh38]
Chr1:8022912 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.323-48A>G single nucleotide variant not provided [RCV001595786] Chr1:7977604 [GRCh38]
Chr1:8037664 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.91-109C>T single nucleotide variant not provided [RCV001677467] Chr1:7965215 [GRCh38]
Chr1:8025275 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.193-86A>G single nucleotide variant not provided [RCV001694405] Chr1:7969259 [GRCh38]
Chr1:8029319 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.-24+75_-24+92del deletion not provided [RCV001656318] Chr1:7961851..7961868 [GRCh38]
Chr1:8021911..8021928 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.252+46del deletion not provided [RCV001677411] Chr1:7969441 [GRCh38]
Chr1:8029501 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.252+45G>A single nucleotide variant not provided [RCV001677431] Chr1:7969449 [GRCh38]
Chr1:8029509 [GRCh37]
Chr1:1p36.23		 benign
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1		 pathogenic
NM_007262.5(PARK7):c.*124C>T single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV001099355]|not provided [RCV002285441] Chr1:7985178 [GRCh38]
Chr1:8045238 [GRCh37]
Chr1:1p36.23		 likely benign
NM_007262.5(PARK7):c.*185T>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV001099356] Chr1:7985239 [GRCh38]
Chr1:8045299 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.192+238A>C single nucleotide variant not provided [RCV001690982] Chr1:7965663 [GRCh38]
Chr1:8025723 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.252+193_252+194del deletion not provided [RCV001541651] Chr1:7969585..7969586 [GRCh38]
Chr1:8029645..8029646 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.193-279A>G single nucleotide variant not provided [RCV001584997] Chr1:7969066 [GRCh38]
Chr1:8029126 [GRCh37]
Chr1:1p36.23		 likely benign
NM_007262.5(PARK7):c.-23-5_-23-4del deletion not provided [RCV001612260] Chr1:7962741..7962742 [GRCh38]
Chr1:8022801..8022802 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.252+46G>A single nucleotide variant not provided [RCV001694210] Chr1:7969450 [GRCh38]
Chr1:8029510 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.409+267_409+276del deletion not provided [RCV001708742] Chr1:7977986..7977995 [GRCh38]
Chr1:8038046..8038055 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.253-98G>A single nucleotide variant not provided [RCV001611685] Chr1:7970796 [GRCh38]
Chr1:8030856 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.56C>T (p.Thr19Met) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV001237189] Chr1:7962841 [GRCh38]
Chr1:8022901 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.502A>G (p.Ile168Val) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV001099353]|not provided [RCV003883552] Chr1:7984986 [GRCh38]
Chr1:8045046 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.410-230C>T single nucleotide variant not provided [RCV001539949] Chr1:7984664 [GRCh38]
Chr1:8044724 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.471_473del (p.Pro158del) deletion Autosomal recessive early-onset Parkinson disease 7 [RCV001542552]|not provided [RCV001268696] Chr1:7984955..7984957 [GRCh38]
Chr1:8045015..8045017 [GRCh37]
Chr1:1p36.23		 likely pathogenic|conflicting interpretations of pathogenicity
NM_007262.5(PARK7):c.252+47A>G single nucleotide variant not provided [RCV001545685] Chr1:7969451 [GRCh38]
Chr1:8029511 [GRCh37]
Chr1:1p36.23		 likely benign
NM_007262.5(PARK7):c.505G>T (p.Val169Phe) single nucleotide variant not provided [RCV001663536] Chr1:7984989 [GRCh38]
Chr1:8045049 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.16G>T (p.Ala6Ser) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV001313919] Chr1:7962801 [GRCh38]
Chr1:8022861 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.285G>A (p.Gln95=) single nucleotide variant not provided [RCV001311615] Chr1:7970926 [GRCh38]
Chr1:8030986 [GRCh37]
Chr1:1p36.23		 likely benign
NM_007262.5(PARK7):c.460A>G (p.Thr154Ala) single nucleotide variant Young-onset Parkinson disease [RCV001449624] Chr1:7984944 [GRCh38]
Chr1:8045004 [GRCh37]
Chr1:1p36.23		 likely pathogenic
NM_007262.5(PARK7):c.429G>A (p.Glu143=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV001483372] Chr1:7984913 [GRCh38]
Chr1:8044973 [GRCh37]
Chr1:1p36.23		 likely benign
NM_007262.5(PARK7):c.91-5C>T single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV001393174] Chr1:7965319 [GRCh38]
Chr1:8025379 [GRCh37]
Chr1:1p36.23		 likely benign
Single allele deletion Juvenile-onset Parkinson disease [RCV001420678] Chr1:7995073..8031023 [GRCh37]
Chr1:1p36.23		 pathogenic
NM_007262.5(PARK7):c.322+31G>A single nucleotide variant not provided [RCV001675399] Chr1:7970994 [GRCh38]
Chr1:8031054 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.252+45_252+46insA insertion not provided [RCV001654831] Chr1:7969449..7969450 [GRCh38]
Chr1:8029509..8029510 [GRCh37]
Chr1:1p36.23		 benign
GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1 copy number loss Chromosome 1p36 deletion syndrome [RCV001535693] Chr1:2420003..8155935 [GRCh37]
Chr1:1p36.32-36.23		 not provided
NM_007262.5(PARK7):c.-23-70T>G single nucleotide variant not provided [RCV001724576] Chr1:7962693 [GRCh38]
Chr1:8022753 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.409+275_409+276del deletion not provided [RCV001674379] Chr1:7977986..7977987 [GRCh38]
Chr1:8038046..8038047 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.-23-4del deletion not provided [RCV001619199] Chr1:7962741 [GRCh38]
Chr1:8022801 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.252+80dup duplication not provided [RCV001732673] Chr1:7969483..7969484 [GRCh38]
Chr1:8029543..8029544 [GRCh37]
Chr1:1p36.23		 likely benign
NM_007262.5(PARK7):c.83G>A (p.Arg28Gln) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV001771782] Chr1:7962868 [GRCh38]
Chr1:8022928 [GRCh37]
Chr1:1p36.23		 likely pathogenic
NM_007262.5(PARK7):c.377A>G (p.His126Arg) single nucleotide variant Motor neuron disease [RCV001814644] Chr1:7977706 [GRCh38]
Chr1:8037766 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.302T>C (p.Leu101Pro) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV001806694] Chr1:7970943 [GRCh38]
Chr1:8031003 [GRCh37]
Chr1:1p36.23		 likely pathogenic
NM_007262.5(PARK7):c.322G>A (p.Gly108Ser) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV001814642] Chr1:7970963 [GRCh38]
Chr1:8031023 [GRCh37]
Chr1:1p36.23		 pathogenic
NM_007262.5(PARK7):c.233G>A (p.Gly78Asp) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV001929996] Chr1:7969385 [GRCh38]
Chr1:8029445 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.82C>T (p.Arg28Ter) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV001893894] Chr1:7962867 [GRCh38]
Chr1:8022927 [GRCh37]
Chr1:1p36.23		 pathogenic
NM_007262.5(PARK7):c.253T>C (p.Ser85Pro) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV001823440] Chr1:7970894 [GRCh38]
Chr1:8030954 [GRCh37]
Chr1:1p36.23		 uncertain significance
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1 copy number loss not provided [RCV001832902] Chr1:849466..17525065 [GRCh37]
Chr1:1p36.33-36.13		 pathogenic
NM_007262.5(PARK7):c.328A>G (p.Thr110Ala) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV002038397] Chr1:7977657 [GRCh38]
Chr1:8037717 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.271A>G (p.Ile91Val) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV001993665] Chr1:7970912 [GRCh38]
Chr1:8030972 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.395A>G (p.Lys132Arg) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV001931118] Chr1:7977724 [GRCh38]
Chr1:8037784 [GRCh37]
Chr1:1p36.23		 uncertain significance
NC_000001.10:g.(?_6485016)_(12569078_?)del deletion not provided [RCV001940096] Chr1:6485016..12569078 [GRCh37]
Chr1:1p36.31-36.22		 uncertain significance
NM_007262.5(PARK7):c.437T>G (p.Val146Gly) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV001924245] Chr1:7984921 [GRCh38]
Chr1:8044981 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.198A>G (p.Pro66=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV002011619] Chr1:7969350 [GRCh38]
Chr1:8029410 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.193-13dup duplication Autosomal recessive early-onset Parkinson disease 7 [RCV002111072] Chr1:7969328..7969329 [GRCh38]
Chr1:8029388..8029389 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.193-17G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV002165775] Chr1:7969328 [GRCh38]
Chr1:8029388 [GRCh37]
Chr1:1p36.23		 likely benign
NM_007262.5(PARK7):c.252+18A>G single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV002077890] Chr1:7969422 [GRCh38]
Chr1:8029482 [GRCh37]
Chr1:1p36.23		 benign
NM_007262.5(PARK7):c.322+12G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV002184543] Chr1:7970975 [GRCh38]
Chr1:8031035 [GRCh37]
Chr1:1p36.23		 likely benign
NM_007262.5(PARK7):c.409+18TTTG[3] microsatellite Autosomal recessive early-onset Parkinson disease 7 [RCV002177925] Chr1:7977756..7977759 [GRCh38]
Chr1:8037816..8037819 [GRCh37]
Chr1:1p36.23		 likely benign
NM_007262.5(PARK7):c.409+18TTTG[5] microsatellite Autosomal recessive early-onset Parkinson disease 7 [RCV002144379] Chr1:7977755..7977756 [GRCh38]
Chr1:8037815..8037816 [GRCh37]
Chr1:1p36.23		 likely benign
NC_000001.10:g.(?_8022846)_(8037818_?)del deletion Autosomal recessive early-onset Parkinson disease 7 [RCV003109631] Chr1:8022846..8037818 [GRCh37]
Chr1:1p36.23		 pathogenic
NC_000001.10:g.(?_7700440)_(8601397_?)dup duplication not provided [RCV003116550] Chr1:7700440..8601397 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.252+46dup duplication not provided [RCV002245093] Chr1:7969440..7969441 [GRCh38]
Chr1:8029500..8029501 [GRCh37]
Chr1:1p36.23		 likely benign
NM_007262.5(PARK7):c.433C>A (p.Arg145Ser) single nucleotide variant not provided [RCV002292722] Chr1:7984917 [GRCh38]
Chr1:8044977 [GRCh37]
Chr1:1p36.23		 uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804) copy number loss Chromosome 1p36 deletion syndrome, proximal [RCV002280717] Chr1:849466..10258804 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1 copy number loss not provided [RCV002473951] Chr1:849467..12448956 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1 copy number loss not provided [RCV002474779] Chr1:6758933..19287770 [GRCh37]
Chr1:1p36.31-36.13		 pathogenic
GRCh37/hg19 1p36.23(chr1:7526232-8290521)x1 copy number loss not provided [RCV002474568] Chr1:7526232..8290521 [GRCh37]
Chr1:1p36.23		 pathogenic
NM_007262.5(PARK7):c.325C>T (p.Pro109Ser) single nucleotide variant Inborn genetic diseases [RCV003000920] Chr1:7977654 [GRCh38]
Chr1:8037714 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.323-20C>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV002756718] Chr1:7977632 [GRCh38]
Chr1:8037692 [GRCh37]
Chr1:1p36.23		 likely benign
NM_007262.5(PARK7):c.103G>A (p.Val35Ile) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV002909615] Chr1:7965336 [GRCh38]
Chr1:8025396 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.494C>T (p.Ala165Val) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV002909932] Chr1:7984978 [GRCh38]
Chr1:8045038 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.323-10T>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV002594370] Chr1:7977642 [GRCh38]
Chr1:8037702 [GRCh37]
Chr1:1p36.23		 likely benign
NM_007262.5(PARK7):c.252+8A>G single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV002889984] Chr1:7969412 [GRCh38]
Chr1:8029472 [GRCh37]
Chr1:1p36.23		 likely benign
NM_007262.5(PARK7):c.91-4G>C single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV002790247] Chr1:7965320 [GRCh38]
Chr1:8025380 [GRCh37]
Chr1:1p36.23		 likely benign
NM_007262.5(PARK7):c.309C>T (p.Ala103=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV002931835] Chr1:7970950 [GRCh38]
Chr1:8031010 [GRCh37]
Chr1:1p36.23		 likely benign
NM_007262.5(PARK7):c.534G>A (p.Ala178=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV002918823] Chr1:7985018 [GRCh38]
Chr1:8045078 [GRCh37]
Chr1:1p36.23		 likely benign
NM_007262.5(PARK7):c.54G>A (p.Glu18=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV002890493] Chr1:7962839 [GRCh38]
Chr1:8022899 [GRCh37]
Chr1:1p36.23		 likely benign
NM_007262.5(PARK7):c.167C>T (p.Ala56Val) single nucleotide variant Inborn genetic diseases [RCV002940649] Chr1:7965400 [GRCh38]
Chr1:8025460 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.444dup (p.Asp149fs) duplication Autosomal recessive early-onset Parkinson disease 7 [RCV002631373] Chr1:7984923..7984924 [GRCh38]
Chr1:8044983..8044984 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.482G>C (p.Ser161Thr) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV002650662] Chr1:7984966 [GRCh38]
Chr1:8045026 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.142C>T (p.Arg48Cys) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV002629932] Chr1:7965375 [GRCh38]
Chr1:8025435 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.515T>A (p.Leu172Gln) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV002630047] Chr1:7984999 [GRCh38]
Chr1:8045059 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.300C>T (p.Gly100=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV003072882] Chr1:7970941 [GRCh38]
Chr1:8031001 [GRCh37]
Chr1:1p36.23		 likely benign
NC_000001.10:g.4481271_20530242del deletion Chromosome 1p36 deletion syndrome [RCV003159574] Chr1:4481271..20530242 [GRCh37]
Chr1:1p36.32-36.12		 pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1 copy number loss not provided [RCV003482961] Chr1:849467..9627901 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
NM_007262.5(PARK7):c.317G>A (p.Cys106Tyr) single nucleotide variant not provided [RCV003482782] Chr1:7970958 [GRCh38]
Chr1:8031018 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.96G>A (p.Lys32=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV003506805] Chr1:7965329 [GRCh38]
Chr1:8025389 [GRCh37]
Chr1:1p36.23		 likely benign
NM_007262.5(PARK7):c.323-16T>C single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV003618856] Chr1:7977636 [GRCh38]
Chr1:8037696 [GRCh37]
Chr1:1p36.23		 likely benign
NM_007262.5(PARK7):c.273A>C (p.Ile91=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 7 [RCV003619135] Chr1:7970914 [GRCh38]
Chr1:8030974 [GRCh37]
Chr1:1p36.23		 likely benign
GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1 copy number loss not specified [RCV003986962] Chr1:849466..8966102 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1 copy number loss not specified [RCV003987128] Chr1:6330828..12910774 [GRCh37]
Chr1:1p36.31-36.21		 pathogenic
NM_007262.5(PARK7):c.410delG deletion not specified [RCV004527110] Chr1:7984893 [GRCh38]
Chr1:8044953 [GRCh37]
Chr1:1p36.23		 uncertain significance
GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2 copy number loss not provided [RCV004577440] Chr1:4436802..22782007 [GRCh37]
Chr1:1p36.32-36.12		 pathogenic
NM_007262.5(PARK7):c.141C>G (p.Ser47Arg) single nucleotide variant Inborn genetic diseases [RCV004502549] Chr1:7965374 [GRCh38]
Chr1:8025434 [GRCh37]
Chr1:1p36.23		 uncertain significance
NC_000001.10:g.(?_5923325)_(12071622_?)del deletion not provided [RCV004579132] Chr1:5923325..12071622 [GRCh37]
Chr1:1p36.31-36.22		 uncertain significance
NC_000001.10:g.(?_8037692)_(8045114_?)dup duplication Autosomal recessive early-onset Parkinson disease 7 [RCV004584037] Chr1:8037692..8045114 [GRCh37]
Chr1:1p36.23		 uncertain significance
NM_007262.5(PARK7):c.-24+66C>G single nucleotide variant PARK7-related disorder [RCV004759018] Chr1:7961859 [GRCh38]
Chr1:8021919 [GRCh37]
Chr1:1p36.23		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:991
Count of miRNA genes:459
Interacting mature miRNAs:490
Transcripts:ENST00000338639, ENST00000377488, ENST00000377491, ENST00000377493, ENST00000460192, ENST00000465354, ENST00000469225, ENST00000493373, ENST00000493678, ENST00000497113
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298451OSTEAR17_HOsteoarthritis QTL 17 (human)2.40.0004Joint/bone inflammationosteoarthritis11125188105Human
407277638GWAS926614_Hbody height QTL GWAS926614 (human)1e-62body height (VT:0001253)body height (CMO:0000106)179826767982677Human
407224132GWAS873108_Hblood protein measurement QTL GWAS873108 (human)3e-177blood protein measurementblood protein measurement (CMO:0000028)179619137961914Human
407277639GWAS926615_Hbody height QTL GWAS926615 (human)2e-58body height (VT:0001253)body height (CMO:0000106)179827667982767Human
407082048GWAS731024_Hblood protein measurement QTL GWAS731024 (human)9e-338blood protein measurementblood protein measurement (CMO:0000028)179619137961914Human
407212545GWAS861521_Hblood protein measurement QTL GWAS861521 (human)1e-103blood protein measurementblood protein measurement (CMO:0000028)179619137961914Human
407147907GWAS796883_Hblood protein measurement QTL GWAS796883 (human)4e-347blood protein measurementblood protein measurement (CMO:0000028)179619137961914Human
407222732GWAS871708_Hblood protein measurement QTL GWAS871708 (human)3e-375blood protein measurementblood protein measurement (CMO:0000028)179619137961914Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human
407177354GWAS826330_Hblood protein measurement QTL GWAS826330 (human)2e-375blood protein measurementblood protein measurement (CMO:0000028)179619137961914Human
1576329MYI9_HMyocardial infarction susceptibility QTL 9 (human)12Myocardial infarction susceptibilityearly-onset1758550333585503Human
407184663GWAS833639_Hblood protein measurement QTL GWAS833639 (human)1e-107blood protein measurementblood protein measurement (CMO:0000028)179619137961914Human
407199639GWAS848615_Hblood protein measurement QTL GWAS848615 (human)1e-104blood protein measurementblood protein measurement (CMO:0000028)179619137961914Human
406954451GWAS603427_Hankylosing spondylitis, psoriasis, ulcerative colitis, Crohn's disease, sclerosing cholangitis QTL GWAS603427 (human)9e-14ankylosing spondylitis, psoriasis, ulcerative colitis, Crohn's disease, sclerosing cholangitis179621377962138Human
406907608GWAS556584_HCrohn's disease QTL GWAS556584 (human)1e-08Crohn's disease179694497969450Human
407232412GWAS881388_Hblood protein measurement QTL GWAS881388 (human)2e-757blood protein measurementblood protein measurement (CMO:0000028)179619137961914Human
407160351GWAS809327_Hblood protein measurement QTL GWAS809327 (human)2e-147blood protein measurementblood protein measurement (CMO:0000028)179619137961914Human
407207065GWAS856041_Hblood protein measurement QTL GWAS856041 (human)2e-204blood protein measurementblood protein measurement (CMO:0000028)179619137961914Human
407030046GWAS679022_HCrohn's disease QTL GWAS679022 (human)5e-09Crohn's disease179621377962138Human
1576325MYI1_HMyocardial infarction susceptibility QTL 1 (human)11.681e-12Myocardial infarction susceptibilityearly-onset1758550333585503Human
407242971GWAS891947_Hgut microbiome measurement QTL GWAS891947 (human)2e-08gut microbiome measurement179697417969742Human
407206362GWAS855338_Hblood protein measurement QTL GWAS855338 (human)2e-149blood protein measurementblood protein measurement (CMO:0000028)179619137961914Human
407060129GWAS709105_Hinflammatory bowel disease QTL GWAS709105 (human)1e-15inflammatory bowel disease179619137961914Human
407006561GWAS655537_Hulcerative colitis QTL GWAS655537 (human)4e-09ulcerative colitis179621377962138Human
407160364GWAS809340_Hblood protein measurement QTL GWAS809340 (human)6e-467blood protein measurementblood protein measurement (CMO:0000028)179619137961914Human
407238829GWAS887805_Hblood protein measurement QTL GWAS887805 (human)3e-606blood protein measurementblood protein measurement (CMO:0000028)179619137961914Human
407061034GWAS710010_Hstroke QTL GWAS710010 (human)0.0000002stroke179827667982767Human
407000361GWAS649337_HCrohn's disease QTL GWAS649337 (human)0.000003Crohn's disease179621377962138Human
1643380BW316_HBody weight QTL 316 (human)2.620.0002Body weightBMI1758550333585503Human
406952942GWAS601918_Hprotein dj-1 measurement QTL GWAS601918 (human)1e-26protein dj-1 measurement179617187961719Human
407033069GWAS682045_Hulcerative colitis QTL GWAS682045 (human)6e-14ulcerative colitis179621377962138Human
407159156GWAS808132_Hblood protein measurement QTL GWAS808132 (human)1e-449blood protein measurementblood protein measurement (CMO:0000028)179619137961914Human
407160371GWAS809347_Hblood protein measurement QTL GWAS809347 (human)3e-202blood protein measurementblood protein measurement (CMO:0000028)179619137961914Human
407025658GWAS674634_Hulcerative colitis QTL GWAS674634 (human)5e-09ulcerative colitis179619137961914Human
407000442GWAS649418_Hinflammatory bowel disease QTL GWAS649418 (human)1e-12inflammatory bowel disease179621377962138Human
407131133GWAS780109_Hblood protein measurement QTL GWAS780109 (human)4e-139blood protein measurementblood protein measurement (CMO:0000028)179619137961914Human
407188793GWAS837769_Hblood protein measurement QTL GWAS837769 (human)3e-134blood protein measurementblood protein measurement (CMO:0000028)179619137961914Human
407147897GWAS796873_Hblood protein measurement QTL GWAS796873 (human)5e-761blood protein measurementblood protein measurement (CMO:0000028)179619137961914Human

Markers in Region
SHGC-74169  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3718,045,159 - 8,045,283UniSTSGRCh37
GRCh371249,989,841 - 49,989,970UniSTSGRCh37
Build 3617,967,746 - 7,967,870RGDNCBI36
Celera17,152,215 - 7,152,339RGD
Celera1248,784,301 - 48,784,430UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map1p36.23UniSTS
HuRef1247,020,693 - 47,020,822UniSTS
HuRef17,192,980 - 7,193,104UniSTS
GeneMap99-GB4 RH Map132.73UniSTS
Whitehead-RH Map124.9UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001123377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB045294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB073864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF021819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL034417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY648999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP248330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D61380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000338639   ⟹   ENSP00000340278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl17,961,711 - 7,985,505 (+)Ensembl
Ensembl Acc Id: ENST00000377488   ⟹   ENSP00000366708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl17,961,969 - 7,985,111 (+)Ensembl
Ensembl Acc Id: ENST00000377491   ⟹   ENSP00000366711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl17,961,894 - 7,985,250 (+)Ensembl
Ensembl Acc Id: ENST00000377493   ⟹   ENSP00000466242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl17,961,701 - 7,985,281 (+)Ensembl
Ensembl Acc Id: ENST00000460192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl17,961,663 - 7,971,048 (+)Ensembl
Ensembl Acc Id: ENST00000465354
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl17,961,748 - 7,971,521 (+)Ensembl
Ensembl Acc Id: ENST00000469225   ⟹   ENSP00000466756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl17,965,351 - 7,985,282 (+)Ensembl
Ensembl Acc Id: ENST00000493373   ⟹   ENSP00000465404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl17,954,291 - 7,985,052 (+)Ensembl
Ensembl Acc Id: ENST00000493678   ⟹   ENSP00000418770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl17,961,692 - 7,985,505 (+)Ensembl
Ensembl Acc Id: ENST00000497113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl17,962,767 - 7,971,957 (+)Ensembl
RefSeq Acc Id: NM_001123377   ⟹   NP_001116849
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3817,961,711 - 7,985,505 (+)NCBI
GRCh3718,021,714 - 8,045,342 (+)NCBI
HuRef17,169,316 - 7,193,163 (+)ENTREZGENE
CHM1_118,009,469 - 8,033,097 (+)NCBI
T2T-CHM13v2.017,492,675 - 7,516,444 (+)NCBI
Sequence:
RefSeq Acc Id: NM_007262   ⟹   NP_009193
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3817,961,711 - 7,985,505 (+)NCBI
GRCh3718,021,714 - 8,045,342 (+)ENTREZGENE
GRCh3718,021,714 - 8,045,342 (+)NCBI
Build 3617,944,380 - 7,967,926 (+)NCBI Archive
HuRef17,169,316 - 7,193,163 (+)ENTREZGENE
CHM1_118,009,469 - 8,033,097 (+)NCBI
T2T-CHM13v2.017,492,675 - 7,516,444 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005263424   ⟹   XP_005263481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3817,961,711 - 7,985,505 (+)NCBI
GRCh3718,021,714 - 8,045,342 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054334046   ⟹   XP_054190021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.017,492,680 - 7,516,444 (+)NCBI
RefSeq Acc Id: NP_009193   ⟸   NM_007262
- UniProtKB: Q99497 (UniProtKB/Swiss-Prot),   Q7LFU2 (UniProtKB/Swiss-Prot),   Q6DR95 (UniProtKB/Swiss-Prot),   B2R4Z1 (UniProtKB/Swiss-Prot),   O14805 (UniProtKB/Swiss-Prot),   V9HWC2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001116849   ⟸   NM_001123377
- UniProtKB: Q99497 (UniProtKB/Swiss-Prot),   Q7LFU2 (UniProtKB/Swiss-Prot),   Q6DR95 (UniProtKB/Swiss-Prot),   O14805 (UniProtKB/Swiss-Prot),   B2R4Z1 (UniProtKB/Swiss-Prot),   V9HWC2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005263481   ⟸   XM_005263424
- Peptide Label: isoform X1
- UniProtKB: Q99497 (UniProtKB/Swiss-Prot),   Q7LFU2 (UniProtKB/Swiss-Prot),   Q6DR95 (UniProtKB/Swiss-Prot),   O14805 (UniProtKB/Swiss-Prot),   B2R4Z1 (UniProtKB/Swiss-Prot),   V9HWC2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000418770   ⟸   ENST00000493678
Ensembl Acc Id: ENSP00000465404   ⟸   ENST00000493373
Ensembl Acc Id: ENSP00000466756   ⟸   ENST00000469225
Ensembl Acc Id: ENSP00000366708   ⟸   ENST00000377488
Ensembl Acc Id: ENSP00000366711   ⟸   ENST00000377491
Ensembl Acc Id: ENSP00000466242   ⟸   ENST00000377493
Ensembl Acc Id: ENSP00000340278   ⟸   ENST00000338639
RefSeq Acc Id: XP_054190021   ⟸   XM_054334046
- Peptide Label: isoform X1
- UniProtKB: Q99497 (UniProtKB/Swiss-Prot),   Q7LFU2 (UniProtKB/Swiss-Prot),   Q6DR95 (UniProtKB/Swiss-Prot),   O14805 (UniProtKB/Swiss-Prot),   B2R4Z1 (UniProtKB/Swiss-Prot),   V9HWC2 (UniProtKB/TrEMBL)
Protein Domains
DJ-1/PfpI

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q99497-F1-model_v2 AlphaFold Q99497 1-189 view protein structure

Promoters
RGD ID:6786189
Promoter ID:HG_KWN:501
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000003580
Position:
Human AssemblyChrPosition (strand)Source
Build 3617,936,566 - 7,937,066 (+)MPROMDB
RGD ID:6786222
Promoter ID:HG_KWN:502
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:ENST00000377488,   ENST00000377491,   NM_007262,   OTTHUMT00000003577,   OTTHUMT00000003583,   UC001AOV.2,   UC001AOW.2
Position:
Human AssemblyChrPosition (strand)Source
Build 3617,943,919 - 7,944,419 (+)MPROMDB
RGD ID:6851138
Promoter ID:EP73366
Type:initiation region
Name:HS_PARK7
Description:Parkinson disease (autosomal recessive, early onset) 7.
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 3617,944,348 - 7,944,408EPD
RGD ID:6853972
Promoter ID:EPDNEW_H151
Type:initiation region
Name:PARK7_2
Description:Parkinsonism associated deglycase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H152  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3817,954,198 - 7,954,258EPDNEW
RGD ID:6853974
Promoter ID:EPDNEW_H152
Type:initiation region
Name:PARK7_1
Description:Parkinsonism associated deglycase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H151  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3817,961,711 - 7,961,771EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16369 AgrOrtholog
COSMIC PARK7 COSMIC
Ensembl Genes ENSG00000116288 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000338639 ENTREZGENE
  ENST00000338639.10 UniProtKB/Swiss-Prot
  ENST00000377488.5 UniProtKB/Swiss-Prot
  ENST00000377491 ENTREZGENE
  ENST00000377491.5 UniProtKB/Swiss-Prot
  ENST00000377493.9 UniProtKB/TrEMBL
  ENST00000469225.1 UniProtKB/TrEMBL
  ENST00000493373.5 UniProtKB/Swiss-Prot
  ENST00000493678 ENTREZGENE
  ENST00000493678.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.880 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000116288 GTEx
HGNC ID HGNC:16369 ENTREZGENE
Human Proteome Map PARK7 Human Proteome Map
InterPro Class_I_gatase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DJ-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DJ-1/PfpI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot/Nucl_acid_deglycase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11315 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene PARK7 ENTREZGENE
OMIM 602533 OMIM
PANTHER PARKINSON DISEASE PROTEIN 7 HOMOLOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN/NUCLEIC ACID DEGLYCASE DJ-1-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DJ-1_PfpI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32946 PharmGKB
Superfamily-SCOP SSF52317 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R4Z1 ENTREZGENE
  K7ELW0_HUMAN UniProtKB/TrEMBL
  K7EN27_HUMAN UniProtKB/TrEMBL
  O14805 ENTREZGENE
  PARK7_HUMAN UniProtKB/Swiss-Prot
  Q6DR95 ENTREZGENE
  Q7LFU2 ENTREZGENE
  Q99497 ENTREZGENE
  V9HWC2 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B2R4Z1 UniProtKB/Swiss-Prot
  O14805 UniProtKB/Swiss-Prot
  Q6DR95 UniProtKB/Swiss-Prot
  Q7LFU2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-18 PARK7  Parkinsonism associated deglycase  PARK7  parkinson protein 7  Symbol and/or name change 5135510 APPROVED
2011-07-27 PARK7  parkinson protein 7  PARK7  Parkinson disease (autosomal recessive, early onset) 7  Symbol and/or name change 5135510 APPROVED