PARK7 (Parkinsonism associated deglycase)

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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 detoxification of inorganic compound; negative regulation of apoptotic signaling pathway; and negative regulation of protein metabolic process. Located in several cellular components, including PML body; mitochondrion; and perinuclear region of cytoplasm. Part of chromatin. 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

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Park7 (Parkinson disease (autosomal recessive, early onset) 7)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Park7 (Parkinsonism associated deglycase)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	Park7 (Parkinsonism associated deglycase)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	PARK7 (Parkinsonism associated deglycase)	NCBI	Ortholog
Canis lupus familiaris (dog):	PARK7 (Parkinsonism associated deglycase)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Park7 (Parkinsonism associated deglycase)	NCBI	Ortholog
Sus scrofa (pig):	PARK7 (Parkinsonism associated deglycase)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	PARK7 (Parkinsonism associated deglycase)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Park7 (Parkinsonism associated deglycase)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Park7 (Parkinsonism associated deglycase)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Park7 (Parkinson disease (autosomal recessive, early onset) 7)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	park7 (parkinson protein 7)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	djr-1.1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	DJ-1alpha	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	dj-1beta	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	djr-1.2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	park7	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	park7.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	park7.L	Alliance	DIOPT (Xenbase)

Related Pseudogenes:

PARK7P1 PARK7P2

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	7,961,711 - 7,985,505 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	7,954,291 - 7,985,505 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	8,021,771 - 8,045,565 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	7,944,380 - 7,967,926 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	7,956,058 - 7,979,602	NCBI
Celera	1	7,128,771 - 7,152,398 (+)	NCBI		Celera
Cytogenetic Map	1	p36.23	NCBI
HuRef	1	7,169,316 - 7,193,163 (+)	NCBI		HuRef
CHM1_1	1	8,009,469 - 8,033,097 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	7,492,675 - 7,516,444 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 (IAGP)

cerebral infarction (IMP,ISO)

Chemical and Drug Induced Liver Injury (EXP)

chromosome 1p36 deletion syndrome (IAGP)

genetic disease (IAGP)

hepatocellular carcinoma (EXP)

late onset Parkinson's disease (IAGP)

maturity-onset diabetes of the young type 5 (IAGP)

middle cerebral artery infarction (IDA)

motor neuron disease (IAGP)

Nerve Degeneration (EXP)

Neurodevelopmental Disorders (IAGP)

osteoporosis (EXP)

Parkinson's disease (EXP,IAGP,ISO)

Parkinson's disease 2 (IAGP)

Parkinson's disease 6 (IAGP)

Parkinson's disease 7 (EXP,IAGP,ISS)

Parkinsonism (EXP,IAGP,IMP,ISO)

perinatal necrotizing enterocolitis (EXP)

Pulmonary Arterial Hypertension (ISO)

Reticulocytosis (EXP)

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)

arsenite(3-) (EXP)

astemizole (ISO)

benomyl (EXP)

benzene (EXP)

benzo[a]pyrene (EXP)

bisphenol A (EXP,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 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)

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,IMP)

DNA damage response (IEA)

DNA repair (IDA,IEA)

dopamine uptake involved in synaptic transmission (IEA,ISO)

glucose homeostasis (IEA,ISS)

glutathione deglycation (IDA)

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 (IC)

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 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)

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 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 TRAIL production (IMP)

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

adherens junction (HDA)

axon (ISO,ISS)

cell body (IEA)

chromatin (IDA)

cytoplasm (IBA,IDA,IEA)

cytosol (IDA,IEA,IMP,TAS)

endoplasmic reticulum (IDA,IEA)

extracellular exosome (HDA)

membrane (IEA)

membrane raft (IEA)

mitochondrial intermembrane space (IEA)

mitochondrial matrix (IEA)

mitochondrion (IBA,IDA,IEA,IMP)

neuron projection (IEA)

nucleoplasm (IDA,TAS)

nucleus (HDA,IBA,IDA,IEA)

perinuclear region of cytoplasm (IDA)

plasma membrane (IEA)

PML body (IDA)

presynapse (IEA)

sperm head (ISO)

synapse (IEA)

Molecular Function

cadherin binding (HDA)

copper ion binding (IDA)

core promoter sequence-specific DNA binding (IC)

cupric ion binding (IDA)

cuprous ion binding (IDA)

cytokine binding (IPI)

DNA-binding transcription factor binding (IPI)

double-stranded DNA binding (IDA)

enzyme binding (IPI)

glyoxalase (glycolic acid-forming) activity (IDA)

hydrolase activity (IEA)

identical protein binding (IPI)

kinase binding (IPI)

L-dopa decarboxylase activator activity (IDA)

mercury ion binding (IDA)

mRNA binding (IDA)

nuclear androgen receptor binding (IPI)

oxidoreductase activity, acting on peroxide as acceptor (IBA,IDA)

oxygen sensor activity (IEA)

peptidase activity (IDA,IEA)

peroxiredoxin activity (IEA)

protein binding (IPI,ISO)

protein deglycase activity (IDA)

protein homodimerization activity (IDA,IPI)

protein-containing complex binding (IDA)

RNA binding (IEA)

scaffold protein binding (IPI)

signaling receptor binding (IPI)

single-stranded DNA binding (IDA)

small protein activating enzyme binding (IPI)

superoxide dismutase copper chaperone activity (IDA)

transcription coactivator activity (IGI,TAS)

tyrosine 3-monooxygenase activator activity (IDA)

ubiquitin-like protein conjugating enzyme binding (IPI)

ubiquitin-specific protease binding (IPI)

Molecular Pathway Annotations Click to see Annotation Detail View

Parkinson's disease pathway (IEA,TAS)

transforming growth factor-beta signaling pathway (ISO)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal autonomic nervous system physiology (IAGP)

Adult onset (IAGP)

Agitation (IAGP)

Anxiety (IAGP)

Apathy (IAGP)

Autosomal recessive inheritance (IAGP)

Blepharospasm (IAGP)

Bradykinesia (IAGP)

Brisk reflexes (IAGP)

Cognitive impairment (IAGP)

Color vision defect (IAGP)

Constipation (IAGP)

Dementia (IAGP)

Depression (IAGP)

Diarrhea (IAGP)

Diplopia (IAGP)

Dyskinesia (IAGP)

Dystonia (IAGP)

Female sexual dysfunction (IAGP)

Frontal lobe dementia (IAGP)

Gait imbalance (IAGP)

Gastroparesis (IAGP)

Hallucinations (IAGP)

Hyperreflexia (IAGP)

Hyposmia (IAGP)

Impaired social interactions (IAGP)

Impulsivity (IAGP)

Insomnia (IAGP)

Leg dystonia (IAGP)

Male sexual dysfunction (IAGP)

Muscle spasm (IAGP)

Nausea (IAGP)

Panic attack (IAGP)

Parkinsonism with favorable response to dopaminergic medication (IAGP)

Postural instability (IAGP)

Postural tremor (IAGP)

Psychotic episodes (IAGP)

Resting tremor (IAGP)

Restless legs (IAGP)

Rigidity (IAGP)

Short attention span (IAGP)

Slowly progressive (IAGP)

Spasticity (IAGP)

Tremor (IAGP)

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

PMID:9070310	PMID:11223268	PMID:11462174	PMID:11477070	PMID:12446870	PMID:12477932	PMID:12526767	PMID:12548343	PMID:12612053	PMID:12761214	PMID:12796482	PMID:12815653
PMID:12855764	PMID:12914946	PMID:12939276	PMID:12953260	PMID:14557580	PMID:14579415	PMID:14598065	PMID:14607841	PMID:14625045	PMID:14638971	PMID:14652021	PMID:14662519
PMID:14665635	PMID:14702039	PMID:14705119	PMID:14705128	PMID:14712351	PMID:14713311	PMID:14718574	PMID:14744259	PMID:14749723	PMID:14752510	PMID:14872018	PMID:14985393
PMID:15018843	PMID:15108293	PMID:15181200	PMID:15219840	PMID:15254937	PMID:15304593	PMID:15308309	PMID:15342556	PMID:15365989	PMID:15372597	PMID:15489334	PMID:15502874
PMID:15503154	PMID:15525661	PMID:15542239	PMID:15592455	PMID:15703819	PMID:15717024	PMID:15766664	PMID:15790595	PMID:15894486	PMID:15935068	PMID:15944198	PMID:15970950
PMID:15976810	PMID:15983381	PMID:16157901	PMID:16227205	PMID:16240358	PMID:16316629	PMID:16331561	PMID:16390825	PMID:16403519	PMID:16517609	PMID:16570276	PMID:16632486
PMID:16707095	PMID:16710414	PMID:16731528	PMID:16781058	PMID:17015834	PMID:17017532	PMID:17034344	PMID:17085780	PMID:17120294	PMID:17207965	PMID:17331951	PMID:17451229
PMID:17487420	PMID:17504761	PMID:17510388	PMID:17540176	PMID:17599367	PMID:17671684	PMID:17846173	PMID:17949781	PMID:18000879	PMID:18029348	PMID:18042550	PMID:18045143
PMID:18162323	PMID:18181649	PMID:18331584	PMID:18430896	PMID:18436956	PMID:18439917	PMID:18486522	PMID:18570440	PMID:18586035	PMID:18626009	PMID:18632777	PMID:18647263
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Genomics

Comparative Map Data

PARK7
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	7,961,711 - 7,985,505 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	7,954,291 - 7,985,505 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	8,021,771 - 8,045,565 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	7,944,380 - 7,967,926 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	7,956,058 - 7,979,602	NCBI
Celera	1	7,128,771 - 7,152,398 (+)	NCBI		Celera
Cytogenetic Map	1	p36.23	NCBI
HuRef	1	7,169,316 - 7,193,163 (+)	NCBI		HuRef
CHM1_1	1	8,009,469 - 8,033,097 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	7,492,675 - 7,516,444 (+)	NCBI		T2T-CHM13v2.0

Park7
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	150,981,590 - 150,994,378 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	150,981,590 - 150,998,894 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	150,897,133 - 150,909,921 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	150,897,133 - 150,914,437 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	150,271,242 - 150,284,030 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	149,740,942 - 149,753,650 (-)	NCBI		MGSCv36	mm8
Celera	4	153,174,297 - 153,187,100 (-)	NCBI		Celera
Cytogenetic Map	4	E2	NCBI
cM Map	4	81.52	NCBI

Park7
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	5	161,353,718 - 161,376,993 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	161,353,719 - 161,376,970 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	164,071,138 - 164,094,398 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	165,887,564 - 165,910,960 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	165,849,775 - 165,873,035 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	167,982,438 - 168,004,724 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	167,982,439 - 168,004,724 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	171,559,202 - 171,582,476 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	168,050,149 - 168,061,616 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	168,060,336 - 168,071,804 (-)	NCBI
Celera	5	159,607,648 - 159,630,713 (-)	NCBI		Celera
Cytogenetic Map	5	q36	NCBI

Park7
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955486	4,969,497 - 4,985,885 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955486	4,974,130 - 4,985,927 (-)	NCBI	ChiLan1.0	ChiLan1.0

PARK7
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1	1	218,884,515 - 218,908,146 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	6,722,260 - 6,745,915 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	7,969,265 - 7,993,271 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	7,969,280 - 7,993,271 (+)	Ensembl	panpan1.1		panPan2

PARK7
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	61,576,219 - 61,592,325 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	61,576,069 - 61,592,303 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	61,584,413 - 61,601,125 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	61,791,984 - 61,808,701 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	61,792,439 - 61,808,700 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	61,791,244 - 61,807,961 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	61,656,017 - 61,672,730 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	62,059,399 - 62,076,120 (+)	NCBI		UU_Cfam_GSD_1.0

Park7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405058	31,937,508 - 31,951,577 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936623	2,422,833 - 2,436,817 (+)	Ensembl	SpeTri2.0
SpeTri2.0	NW_004936623	2,422,780 - 2,436,817 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PARK7
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	68,629,214 - 68,645,516 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	68,629,327 - 68,645,147 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	63,023,779 - 63,033,855 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PARK7
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	20	123,776,084 - 123,808,031 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	123,776,297 - 123,798,434 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666054	27,810,002 - 27,834,129 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Park7
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624818	3,900,917 - 3,911,042 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624818	3,900,917 - 3,915,457 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in PARK7
107 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]\|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	Ductal breast carcinoma [RCV000207058]	Chr1:909238..24706269 [GRCh37] Chr1:1p36.33-36.11	uncertain significance
chr1:909238-16736132 complex variant	complex	Ductal breast carcinoma [RCV000207094]	Chr1:909238..16736132 [GRCh37] Chr1:1p36.33-36.13	uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	copy number loss	See cases [RCV000239416]	Chr1:82154..12699337 [GRCh37] Chr1:1p36.33-36.22	pathogenic
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]	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	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]	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]	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
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]	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	Parkinson Disease, Juvenile [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

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.

Markers in Region

SHGC-74169

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	8,045,159 - 8,045,283	UniSTS	GRCh37
GRCh37	12	49,989,841 - 49,989,970	UniSTS	GRCh37
Build 36	1	7,967,746 - 7,967,870	RGD	NCBI36
Celera	1	7,152,215 - 7,152,339	RGD
Celera	12	48,784,301 - 48,784,430	UniSTS
Cytogenetic Map	12	q13.12	UniSTS
Cytogenetic Map	1	p36.23	UniSTS
HuRef	12	47,020,693 - 47,020,822	UniSTS
HuRef	1	7,192,980 - 7,193,104	UniSTS
GeneMap99-GB4 RH Map	1	32.73	UniSTS
Whitehead-RH Map	1	24.9	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

2438

2974

1725

623

1942

464

4357

2189

3732

418

1442

1613

175

1204

2788

Low

Below cutoff

View RNA-SEQ Expression Data

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

RefSeq Acc Id:

ENST00000338639 ⟹ ENSP00000340278

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	7,961,711 - 7,985,505 (+)	Ensembl

RefSeq Acc Id:

ENST00000377488 ⟹ ENSP00000366708

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	7,961,969 - 7,985,111 (+)	Ensembl

RefSeq Acc Id:

ENST00000377491 ⟹ ENSP00000366711

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	7,961,894 - 7,985,250 (+)	Ensembl

RefSeq Acc Id:

ENST00000377493 ⟹ ENSP00000466242

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	7,961,701 - 7,985,281 (+)	Ensembl

RefSeq Acc Id:

ENST00000460192

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	7,961,663 - 7,971,048 (+)	Ensembl

RefSeq Acc Id:

ENST00000465354

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	7,961,748 - 7,971,521 (+)	Ensembl

RefSeq Acc Id:

ENST00000469225 ⟹ ENSP00000466756

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	7,965,351 - 7,985,282 (+)	Ensembl

RefSeq Acc Id:

ENST00000493373 ⟹ ENSP00000465404

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	7,954,291 - 7,985,052 (+)	Ensembl

RefSeq Acc Id:

ENST00000493678 ⟹ ENSP00000418770

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	7,961,692 - 7,985,505 (+)	Ensembl

RefSeq Acc Id:

ENST00000497113

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	7,962,767 - 7,971,957 (+)	Ensembl

RefSeq Acc Id:

NM_001123377 ⟹ NP_001116849

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	7,961,711 - 7,985,505 (+)	NCBI
GRCh37	1	8,021,714 - 8,045,342 (+)	NCBI
HuRef	1	7,169,316 - 7,193,163 (+)	ENTREZGENE
CHM1_1	1	8,009,469 - 8,033,097 (+)	NCBI
T2T-CHM13v2.0	1	7,492,675 - 7,516,444 (+)	NCBI

Sequence:

show sequence

GCGTTCATTTTCAGCCTGGTGTGGGGCTTGTAAACATATAACATAAAAATGGCTTCCAAAAGAG
CTCTGGTCATCCTGGCTAAAGGAGCAGAGGAAATGGAGACGGTCATCCCTGTAGATGTCATGAG
GCGAGCTGGGATTAAGGTCACCGTTGCAGGCCTGGCTGGAAAAGACCCAGTACAGTGTAGCCGT
GATGTGGTCATTTGTCCTGATGCCAGCCTTGAAGATGCAAAAAAAGAGGGACCATATGATGTGG
TGGTTCTACCAGGAGGTAATCTGGGCGCACAGAATTTATCTGAGTCTGCTGCTGTGAAGGAGAT
ACTGAAGGAGCAGGAAAACCGGAAGGGCCTGATAGCCGCCATCTGTGCAGGTCCTACTGCTCTG
TTGGCTCATGAAATAGGTTTTGGAAGTAAAGTTACAACACACCCTCTTGCTAAAGACAAAATGA
TGAATGGAGGTCATTACACCTACTCTGAGAATCGTGTGGAAAAAGACGGCCTGATTCTTACAAG
CCGGGGGCCTGGGACCAGCTTCGAGTTTGCGCTTGCAATTGTTGAAGCCCTGAATGGCAAGGAG
GTGGCGGCTCAAGTGAAGGCTCCACTTGTTCTTAAAGACTAGAGCAGCGAACTGCGACGATCAC
TTAGAGAAACAGGCCGTTAGGAATCCATTCTCACTGTGTTCGCTCTAAACAAAACAGTGGTAGG
TTAATGTGTTCAGAAGTCGCTGTCCTTACTACTTTTGCGGAAGTATGGAAGTCACAACTACACA
GAGATTTCTCAGCCTACAAATTGTGTCTATACATTTCTAAGCCTTGTTTGCAGAATAAACAGGG
CATTTAGCAAACTACTGATTGTTTCTTGTTTTGTCTCTCATTTCTTTTGTGAAATTAAATTCCG
TATCACCTTCATTTGCAGCTCTTAACTGTCCATATGGCACTGAAATAAAAGAACAGTGACCACA
TTTTACACAGCAAGGAGGAAAGGCATACAAACAGAATTTAAGAGGCTTGTGATTTTCTCTGCTT
ATTAGCTGTGTGTTTTTAATGTGCTATTAAAAAATACCAATGAGG

hide sequence

RefSeq Acc Id:

NM_007262 ⟹ NP_009193

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	7,961,711 - 7,985,505 (+)	NCBI
GRCh37	1	8,021,714 - 8,045,342 (+)	ENTREZGENE
GRCh37	1	8,021,714 - 8,045,342 (+)	NCBI
Build 36	1	7,944,380 - 7,967,926 (+)	NCBI Archive
HuRef	1	7,169,316 - 7,193,163 (+)	ENTREZGENE
CHM1_1	1	8,009,469 - 8,033,097 (+)	NCBI
T2T-CHM13v2.0	1	7,492,675 - 7,516,444 (+)	NCBI

Sequence:

show sequence

GCGTTCATTTTCAGCCTGGTGTGGGGTGAGTGGTACCCAACGGGCCGGGGCGCCGCGTCCGCAG
GAAGAGGCGCGGGGTGCAGGCTTGTAAACATATAACATAAAAATGGCTTCCAAAAGAGCTCTGG
TCATCCTGGCTAAAGGAGCAGAGGAAATGGAGACGGTCATCCCTGTAGATGTCATGAGGCGAGC
TGGGATTAAGGTCACCGTTGCAGGCCTGGCTGGAAAAGACCCAGTACAGTGTAGCCGTGATGTG
GTCATTTGTCCTGATGCCAGCCTTGAAGATGCAAAAAAAGAGGGACCATATGATGTGGTGGTTC
TACCAGGAGGTAATCTGGGCGCACAGAATTTATCTGAGTCTGCTGCTGTGAAGGAGATACTGAA
GGAGCAGGAAAACCGGAAGGGCCTGATAGCCGCCATCTGTGCAGGTCCTACTGCTCTGTTGGCT
CATGAAATAGGTTTTGGAAGTAAAGTTACAACACACCCTCTTGCTAAAGACAAAATGATGAATG
GAGGTCATTACACCTACTCTGAGAATCGTGTGGAAAAAGACGGCCTGATTCTTACAAGCCGGGG
GCCTGGGACCAGCTTCGAGTTTGCGCTTGCAATTGTTGAAGCCCTGAATGGCAAGGAGGTGGCG
GCTCAAGTGAAGGCTCCACTTGTTCTTAAAGACTAGAGCAGCGAACTGCGACGATCACTTAGAG
AAACAGGCCGTTAGGAATCCATTCTCACTGTGTTCGCTCTAAACAAAACAGTGGTAGGTTAATG
TGTTCAGAAGTCGCTGTCCTTACTACTTTTGCGGAAGTATGGAAGTCACAACTACACAGAGATT
TCTCAGCCTACAAATTGTGTCTATACATTTCTAAGCCTTGTTTGCAGAATAAACAGGGCATTTA
GCAAACTACTGATTGTTTCTTGTTTTGTCTCTCATTTCTTTTGTGAAATTAAATTCCGTATCAC
CTTCATTTGCAGCTCTTAACTGTCCATATGGCACTGAAATAAAAGAACAGTGACCACATTTTAC
ACAGCAAGGAGGAAAGGCATACAAACAGAATTTAAGAGGCTTGTGATTTTCTCTGCTTATTAGC
TGTGTGTTTTTAATGTGCTATTAAAAAATACCAATGAGG

hide sequence

RefSeq Acc Id:

XM_005263424 ⟹ XP_005263481

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	7,961,711 - 7,985,505 (+)	NCBI
GRCh37	1	8,021,714 - 8,045,342 (+)	NCBI

Sequence:

show sequence

CGCCCTCGCTTCCGGCCTCCCAGTCGGGCCCTGTCGCTGGCGTTGGATTTGACTGACCGCCAGC
GTGGTGGCAACGCTGAAGCGTCCAGAATCTTCTGCCTAACCTCTCGCCGGCATGGAACTGGCTA
GCCGTTTTATTAAACTCTGTTTTGCGTGGACGGCTTGTAAACATATAACATAAAAATGGCTTCC
AAAAGAGCTCTGGTCATCCTGGCTAAAGGAGCAGAGGAAATGGAGACGGTCATCCCTGTAGATG
TCATGAGGCGAGCTGGGATTAAGGTCACCGTTGCAGGCCTGGCTGGAAAAGACCCAGTACAGTG
TAGCCGTGATGTGGTCATTTGTCCTGATGCCAGCCTTGAAGATGCAAAAAAAGAGGGACCATAT
GATGTGGTGGTTCTACCAGGAGGTAATCTGGGCGCACAGAATTTATCTGAGTCTGCTGCTGTGA
AGGAGATACTGAAGGAGCAGGAAAACCGGAAGGGCCTGATAGCCGCCATCTGTGCAGGTCCTAC
TGCTCTGTTGGCTCATGAAATAGGTTTTGGAAGTAAAGTTACAACACACCCTCTTGCTAAAGAC
AAAATGATGAATGGAGGTCATTACACCTACTCTGAGAATCGTGTGGAAAAAGACGGCCTGATTC
TTACAAGCCGGGGGCCTGGGACCAGCTTCGAGTTTGCGCTTGCAATTGTTGAAGCCCTGAATGG
CAAGGAGGTGGCGGCTCAAGTGAAGGCTCCACTTGTTCTTAAAGACTAGAGCAGCGAACTGCGA
CGATCACTTAGAGAAACAGGCCGTTAGGAATCCATTCTCACTGTGTTCGCTCTAAACAAAACAG
TGGTAGGTTAATGTGTTCAGAAGTCGCTGTCCTTACTACTTTTGCGGAAGTATGGAAGTCACAA
CTACACAGAGATTTCTCAGCCTACAAATTGTGTCTATACATTTCTAAGCCTTGTTTGCAGAATA
AACAGGGCATTTAGCAAACTA

hide sequence

RefSeq Acc Id:

XM_054334046 ⟹ XP_054190021

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	7,492,680 - 7,516,444 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001116849	(Get FASTA)	NCBI Sequence Viewer
	NP_009193	(Get FASTA)	NCBI Sequence Viewer
	XP_005263481	(Get FASTA)	NCBI Sequence Viewer
	XP_054190021	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC12806	(Get FASTA)	NCBI Sequence Viewer
	AAH08188	(Get FASTA)	NCBI Sequence Viewer
	AAT68961	(Get FASTA)	NCBI Sequence Viewer
	ACJ13695	(Get FASTA)	NCBI Sequence Viewer
	BAA09603	(Get FASTA)	NCBI Sequence Viewer
	BAB71782	(Get FASTA)	NCBI Sequence Viewer
	BAG34938	(Get FASTA)	NCBI Sequence Viewer
	EAW71591	(Get FASTA)	NCBI Sequence Viewer
	Q99497	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_009193 ⟸ NM_007262
- UniProtKB:	Q6DR95 (UniProtKB/Swiss-Prot), O14805 (UniProtKB/Swiss-Prot), B2R4Z1 (UniProtKB/Swiss-Prot), Q7LFU2 (UniProtKB/Swiss-Prot), Q99497 (UniProtKB/Swiss-Prot), V9HWC2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MASKRALVILAKGAEEMETVIPVDVMRRAGIKVTVAGLAGKDPVQCSRDVVICPDASLEDAKKE GPYDVVVLPGGNLGAQNLSESAAVKEILKEQENRKGLIAAICAGPTALLAHEIGFGSKVTTHPL AKDKMMNGGHYTYSENRVEKDGLILTSRGPGTSFEFALAIVEALNGKEVAAQVKAPLVLKD hide sequence

RefSeq Acc Id:	NP_001116849 ⟸ NM_001123377
- UniProtKB:	Q6DR95 (UniProtKB/Swiss-Prot), O14805 (UniProtKB/Swiss-Prot), B2R4Z1 (UniProtKB/Swiss-Prot), Q7LFU2 (UniProtKB/Swiss-Prot), Q99497 (UniProtKB/Swiss-Prot), V9HWC2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MASKRALVILAKGAEEMETVIPVDVMRRAGIKVTVAGLAGKDPVQCSRDVVICPDASLEDAKKE GPYDVVVLPGGNLGAQNLSESAAVKEILKEQENRKGLIAAICAGPTALLAHEIGFGSKVTTHPL AKDKMMNGGHYTYSENRVEKDGLILTSRGPGTSFEFALAIVEALNGKEVAAQVKAPLVLKD hide sequence

RefSeq Acc Id:	XP_005263481 ⟸ XM_005263424
- Peptide Label:	isoform X1
- UniProtKB:	Q6DR95 (UniProtKB/Swiss-Prot), O14805 (UniProtKB/Swiss-Prot), B2R4Z1 (UniProtKB/Swiss-Prot), Q7LFU2 (UniProtKB/Swiss-Prot), Q99497 (UniProtKB/Swiss-Prot), V9HWC2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MASKRALVILAKGAEEMETVIPVDVMRRAGIKVTVAGLAGKDPVQCSRDVVICPDASLEDAKKE GPYDVVVLPGGNLGAQNLSESAAVKEILKEQENRKGLIAAICAGPTALLAHEIGFGSKVTTHPL AKDKMMNGGHYTYSENRVEKDGLILTSRGPGTSFEFALAIVEALNGKEVAAQVKAPLVLKD hide sequence

RefSeq Acc Id:

ENSP00000418770 ⟸ ENST00000493678

RefSeq Acc Id:

ENSP00000465404 ⟸ ENST00000493373

RefSeq Acc Id:

ENSP00000466756 ⟸ ENST00000469225

RefSeq Acc Id:

ENSP00000366708 ⟸ ENST00000377488

RefSeq Acc Id:

ENSP00000366711 ⟸ ENST00000377491

RefSeq Acc Id:

ENSP00000466242 ⟸ ENST00000377493

RefSeq Acc Id:

ENSP00000340278 ⟸ ENST00000338639

RefSeq Acc Id:	XP_054190021 ⟸ XM_054334046
- Peptide Label:	isoform X1
- UniProtKB:	Q99497 (UniProtKB/Swiss-Prot), Q6DR95 (UniProtKB/Swiss-Prot), O14805 (UniProtKB/Swiss-Prot), B2R4Z1 (UniProtKB/Swiss-Prot), Q7LFU2 (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 Assembly	Chr	Position (strand)	Source
Build 36	1	7,936,566 - 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 Assembly	Chr	Position (strand)	Source
Build 36	1	7,943,919 - 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 Assembly	Chr	Position (strand)	Source
Build 36	1	7,944,348 - 7,944,408	EPD

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 Assembly	Chr	Position (strand)	Source
GRCh38	1	7,954,198 - 7,954,258	EPDNEW

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 Assembly	Chr	Position (strand)	Source
GRCh38	1	7,961,711 - 7,961,771	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:16369	AgrOrtholog
COSMIC	PARK7	COSMIC
Ensembl Genes	ENSG00000116288	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000340278	ENTREZGENE
	ENSP00000340278.5	UniProtKB/Swiss-Prot
	ENSP00000366708.1	UniProtKB/Swiss-Prot
	ENSP00000366711	ENTREZGENE
	ENSP00000366711.1	UniProtKB/Swiss-Prot
	ENSP00000418770	ENTREZGENE
	ENSP00000418770.1	UniProtKB/Swiss-Prot
	ENSP00000465404.1	UniProtKB/Swiss-Prot
	ENSP00000466242.1	UniProtKB/TrEMBL
	ENSP00000466756.1	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
KEGG Report	hsa:11315	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	11315	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		parkinson protein 7	Symbol and/or name change	5135510	APPROVED
2011-08-16	PARK7	parkinson protein 7	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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO