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
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; protein deglycation; and regulation of cellular protein metabolic process. Located in several cellular components, including PML body; chromatin; 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
Also 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 Genes
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
GRCh38.p13 Ensembl17,954,291 - 7,985,505 (+)EnsemblGRCh38hg38GRCh38
GRCh3817,961,711 - 7,985,505 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3718,021,771 - 8,045,565 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3617,944,380 - 7,967,926 (+)NCBINCBI36hg18NCBI36
Build 3417,956,058 - 7,979,602NCBI
Celera17,128,771 - 7,152,398 (+)NCBI
Cytogenetic Map1p36.23NCBI
HuRef17,169,316 - 7,193,163 (+)NCBIHuRef
CHM1_118,009,469 - 8,033,097 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (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-phenylbutyric acid  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
astemizole  (ISO)
benzene  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bromobenzene  (ISO)
butyric acid  (EXP,ISO)
cadmium dichloride  (EXP)
CCCP  (ISO)
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  (ISO)
dexamethasone  (ISO)
diazinon  (ISO)
dibenziodolium  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
disodium selenite  (EXP)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
fenazaquin  (ISO)
fenpyroximate  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
glutathione  (EXP)
haloperidol  (ISO)
heparin  (ISO)
hydralazine  (EXP)
hydrogen peroxide  (EXP,ISO)
isoniazide  (ISO)
ivermectin  (EXP)
lactacystin  (EXP)
lipopolysaccharide  (ISO)
lutein  (ISO)
LY294002  (ISO)
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  (ISO)
N-nitrosomorpholine  (ISO)
nicotine  (ISO)
ouabain  (ISO)
oxidopamine  (EXP,ISO)
p-menthan-3-ol  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
perfluorododecanoic acid  (ISO)
permethrin  (ISO)
phlorizin  (ISO)
potassium chromate  (ISO)
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)
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)
toluene  (ISO)
trans-piceid  (EXP)
Tributyltin oxide  (ISO)
tungsten  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activation of protein kinase B activity  (IC)
adult locomotory behavior  (IEA,ISO)
aging  (ISO)
autophagy  (IEA)
cellular detoxification of aldehyde  (IDA)
cellular detoxification of methylglyoxal  (IDA)
cellular oxidant detoxification  (IEA)
cellular response to glyoxal  (IDA)
cellular response to hydrogen peroxide  (IDA)
cellular response to lipopolysaccharide  (ISO)
cellular response to oxidative stress  (IDA,IMP)
cellular response to reactive oxygen species  (ISO)
detection of oxidative stress  (IEA)
detoxification of copper ion  (IMP)
detoxification of mercury ion  (IMP)
DNA repair  (IDA)
dopamine uptake involved in synaptic transmission  (IEA,ISO)
glucose homeostasis  (ISS)
glutathione deglycation  (IDA)
glycolate biosynthetic process  (IDA)
glyoxal catabolic process  (IEA)
glyoxal metabolic process  (IDA)
guanine deglycation  (IDA)
guanine deglycation, glyoxal removal  (IBA,IDA)
guanine deglycation, methylglyoxal removal  (IDA)
histone modification  (IMP)
hydrogen peroxide metabolic process  (IDA,ISO)
inflammatory response  (IEA)
insulin secretion  (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  (ISS)
negative regulation of apoptotic process  (IDA)
negative regulation of cell death  (IDA)
negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway  (IMP)
negative regulation of death-inducing signaling complex assembly  (IC)
negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  (IGI)
negative regulation of extrinsic apoptotic signaling pathway  (IMP)
negative regulation of gene expression  (IDA)
negative regulation of hydrogen peroxide-induced cell death  (IMP)
negative regulation of hydrogen peroxide-induced neuron death  (IDA)
negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway  (IGI)
negative regulation of neuron apoptotic process  (IDA)
negative regulation of neuron death  (IDA,ISO)
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 cell death  (IDA)
negative regulation of oxidative stress-induced neuron death  (ISO)
negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway  (IDA)
negative regulation of proteasomal ubiquitin-dependent protein catabolic process  (IDA)
negative regulation of protein acetylation  (IDA)
negative regulation of protein binding  (IDA,IGI,IMP)
negative regulation of protein catabolic process  (ISO)
negative regulation of protein export from nucleus  (IGI)
negative regulation of protein K48-linked deubiquitination  (IDA)
negative regulation of protein kinase activity  (IGI)
negative regulation of protein phosphorylation  (IGI)
negative regulation of protein sumoylation  (IDA)
negative regulation of protein ubiquitination  (IDA)
negative regulation of reactive oxygen species biosynthetic process  (ISS)
negative regulation of TRAIL-activated apoptotic signaling pathway  (IMP)
negative regulation of ubiquitin-protein transferase activity  (IDA)
negative regulation of ubiquitin-specific protease activity  (IDA)
peptidyl-arginine deglycation  (IDA,IMP)
peptidyl-cysteine deglycation  (IDA)
peptidyl-lysine deglycation  (IDA)
positive regulation of acute inflammatory response to antigenic stimulus  (ISS)
positive regulation of androgen receptor activity  (IMP)
positive regulation of autophagy of mitochondrion  (NAS)
positive regulation of DNA-binding transcription factor activity  (IMP,TAS)
positive regulation of dopamine biosynthetic process  (IC,IDA)
positive regulation of fertilization  (ISO)
positive regulation of gene expression  (TAS)
positive regulation of interleukin-8 production  (IDA)
positive regulation of L-dopa biosynthetic process  (IMP)
positive regulation of L-dopa decarboxylase activity  (IDA)
positive regulation of mitochondrial electron transport, NADH to ubiquinone  (IMP)
positive regulation of NAD(P)H oxidase activity  (ISS)
positive regulation of oxidative phosphorylation uncoupler activity  (IEA)
positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway  (IEA,ISO)
positive regulation of peptidyl-serine phosphorylation  (IMP)
positive regulation of protein kinase B signaling  (IC)
positive regulation of protein localization to nucleus  (IDA,IMP)
positive regulation of protein-containing complex assembly  (IDA)
positive regulation of pyrroline-5-carboxylate reductase activity  (IDA)
positive regulation of reactive oxygen species biosynthetic process  (IEA,ISO)
positive regulation of superoxide dismutase activity  (IDA)
positive regulation of transcription by RNA polymerase II  (IDA,IGI,IMP)
positive regulation of transcription regulatory region DNA binding  (IMP)
positive regulation of tyrosine 3-monooxygenase activity  (IDA)
protein deglycation, glyoxal removal  (IBA,IDA)
protein deglycation, methylglyoxal removal  (IDA,IMP)
protein deglycosylation  (IDA,IMP)
protein stabilization  (IDA,IMP)
proteolysis  (IEA)
Ras protein signal transduction  (TAS)
regulation of androgen receptor signaling pathway  (IDA)
regulation of histone acetylation  (IMP)
regulation of histone ubiquitination  (IMP)
regulation of inflammatory response  (ISS)
regulation of mitochondrial membrane potential  (IMP)
regulation of neuron apoptotic process  (IDA)
regulation of supramolecular fiber organization  (TAS)
regulation of TRAIL production  (IMP)
response to hydrogen peroxide  (ISO)
response to oxidative stress  (ISO)
response to xenobiotic stimulus  (ISO)
single fertilization  (IEA)
spermatogenesis  (ISO)
synaptic transmission, dopaminergic  (ISO)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
1. 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. Ariga H, etal., Oxid Med Cell Longev. 2013;2013:683920. doi: 10.1155/2013/683920. Epub 2013 May 16.
3. Dave KD, etal., Neurobiol Dis. 2014 Oct;70:190-203. doi: 10.1016/j.nbd.2014.06.009. Epub 2014 Jun 24.
4. GOA_HUMAN data from the GO Consortium
5. Inden M, etal., J Pharmacol Sci. 2011;117(3):189-203. Epub 2011 Oct 29.
6. Inden M, etal., Neurobiol Dis. 2006 Oct;24(1):144-58. Epub 2006 Jul 24.
7. Miller DW, etal., J Biol Chem. 2003 Sep 19;278(38):36588-95. Epub 2003 Jul 8.
8. Miyazaki S, etal., J Neurochem. 2008 Jun 1;105(6):2418-34. doi: 10.1111/j.1471-4159.2008.05327.x.
9. OMIM Disease Annotation Pipeline
10. Pipeline to import KEGG annotations from KEGG into RGD
11. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. RGD automated import pipeline for gene-chemical interactions
13. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
14. Sonia Angeline M, etal., Neuroscience. 2012 Sep 18;220:291-301. doi: 10.1016/j.neuroscience.2012.06.021. Epub 2012 Jun 16.
15. 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.
16. 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  
PMID:18689799   PMID:18704525   PMID:18706098   PMID:18707128   PMID:18711745   PMID:18717316   PMID:18722352   PMID:18722801   PMID:18785233   PMID:18817430   PMID:18822273   PMID:18841573  
PMID:18922803   PMID:18973254   PMID:18974921   PMID:19006224   PMID:19014922   PMID:19023331   PMID:19056867   PMID:19064576   PMID:19124468   PMID:19144925   PMID:19199708   PMID:19224617  
PMID:19229105   PMID:19293155   PMID:19335984   PMID:19371728   PMID:19384955   PMID:19405094   PMID:19425177   PMID:19429112   PMID:19615732   PMID:19680261   PMID:19686841   PMID:19692353  
PMID:19703902   PMID:19716892   PMID:19733211   PMID:19822128   PMID:19825160   PMID:19885556   PMID:19968671   PMID:20014998   PMID:20061558   PMID:20127688   PMID:20146068   PMID:20150646  
PMID:20156966   PMID:20186336   PMID:20190752   PMID:20213747   PMID:20300974   PMID:20301402   PMID:20304780   PMID:20395301   PMID:20406884   PMID:20458337   PMID:20497343   PMID:20506312  
PMID:20510502   PMID:20540987   PMID:20543466   PMID:20634198   PMID:20639397   PMID:20673799   PMID:20730377   PMID:20736773   PMID:20806408   PMID:20842103   PMID:20877624   PMID:20938049  
PMID:20940149   PMID:20969476   PMID:21055329   PMID:21097510   PMID:21160133   PMID:21297633   PMID:21317550   PMID:21322020   PMID:21368136   PMID:21410067   PMID:21426932   PMID:21445310  
PMID:21535932   PMID:21556124   PMID:21575935   PMID:21630459   PMID:21645326   PMID:21645620   PMID:21670963   PMID:21785459   PMID:21796667   PMID:21819105   PMID:21852238   PMID:21873635  
PMID:21893204   PMID:21943684   PMID:22024154   PMID:22066264   PMID:22132160   PMID:22157000   PMID:22173095   PMID:22223849   PMID:22233331   PMID:22272336   PMID:22321799   PMID:22404125  
PMID:22428580   PMID:22445250   PMID:22492997   PMID:22508282   PMID:22511790   PMID:22515803   PMID:22523093   PMID:22526154   PMID:22532838   PMID:22554508   PMID:22555455   PMID:22571429  
PMID:22658674   PMID:22664331   PMID:22666465   PMID:22683601   PMID:22836768   PMID:22892098   PMID:22939629   PMID:22956510   PMID:22960331   PMID:22968650   PMID:22985211   PMID:23015639  
PMID:23076395   PMID:23128233   PMID:23149933   PMID:23151319   PMID:23182168   PMID:23183826   PMID:23241025   PMID:23250426   PMID:23347603   PMID:23364796   PMID:23376485   PMID:23402259  
PMID:23418303   PMID:23447676   PMID:23530187   PMID:23533145   PMID:23592371   PMID:23593018   PMID:23626584   PMID:23714193   PMID:23727824   PMID:23743200   PMID:23792957   PMID:23831022  
PMID:23844142   PMID:23847046   PMID:23902708   PMID:23986421   PMID:24052110   PMID:24070869   PMID:24128678   PMID:24144264   PMID:24155657   PMID:24176883   PMID:24207095   PMID:24242043  
PMID:24252804   PMID:24262325   PMID:24280570   PMID:24396292   PMID:24398929   PMID:24504364   PMID:24531622   PMID:24567322   PMID:24614826   PMID:24664754   PMID:24681255   PMID:24697266  
PMID:24832775   PMID:24899725   PMID:24918637   PMID:24920663   PMID:24947010   PMID:24969178   PMID:24981860   PMID:25037998   PMID:25058424   PMID:25129821   PMID:25210784   PMID:25378175  
PMID:25383140   PMID:25384406   PMID:25416785   PMID:25416956   PMID:25468996   PMID:25475127   PMID:25677538   PMID:25721338   PMID:25737280   PMID:25822630   PMID:25833141   PMID:25867058  
PMID:25892179   PMID:25963833   PMID:26022125   PMID:26048984   PMID:26125099   PMID:26245297   PMID:26254420   PMID:26261582   PMID:26305376   PMID:26334622   PMID:26344197   PMID:26390688  
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PMID:29128334   PMID:29147901   PMID:29147902   PMID:29147903   PMID:29147908   PMID:29147909   PMID:29147911   PMID:29175327   PMID:29177768   PMID:29229926   PMID:29258409   PMID:29315581  
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PMID:31313616   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: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:32741527   PMID:32807901   PMID:32814053   PMID:32814486   PMID:32941674   PMID:32963695   PMID:33024240  
PMID:33045815   PMID:33079995   PMID:33188296   PMID:33301849   PMID:33306668   PMID:33433409   PMID:33501750   PMID:33819447   PMID:33916271   PMID:33957083   PMID:34206441   PMID:34225587  
PMID:34272410  


Genomics

Comparative Map Data
PARK7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl17,954,291 - 7,985,505 (+)EnsemblGRCh38hg38GRCh38
GRCh3817,961,711 - 7,985,505 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3718,021,771 - 8,045,565 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3617,944,380 - 7,967,926 (+)NCBINCBI36hg18NCBI36
Build 3417,956,058 - 7,979,602NCBI
Celera17,128,771 - 7,152,398 (+)NCBI
Cytogenetic Map1p36.23NCBI
HuRef17,169,316 - 7,193,163 (+)NCBIHuRef
CHM1_118,009,469 - 8,033,097 (+)NCBICHM1_1
Park7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394150,981,590 - 150,994,378 (-)NCBIGRCm39mm39
GRCm39 Ensembl4150,981,590 - 150,998,894 (-)Ensembl
GRCm384150,897,133 - 150,909,921 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4150,897,133 - 150,914,437 (-)EnsemblGRCm38mm10GRCm38
MGSCv374150,271,242 - 150,284,030 (-)NCBIGRCm37mm9NCBIm37
MGSCv364149,740,942 - 149,753,650 (-)NCBImm8
Celera4153,174,297 - 153,187,100 (-)NCBICelera
Cytogenetic Map4E2NCBI
Park7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25161,353,718 - 161,376,993 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl5161,353,719 - 161,376,970 (-)Ensembl
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 (-)NCBIRGSC3.4rn4RGSC3.4
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
PanPan1.117,969,265 - 7,993,271 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl17,969,280 - 7,993,271 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v016,722,260 - 6,745,915 (+)NCBIMhudiblu_PPA_v0panPan3
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 (+)NCBI
ROS_Cfam_1.0561,791,984 - 61,808,701 (+)NCBI
UMICH_Zoey_3.1561,791,244 - 61,807,961 (+)NCBI
UNSW_CanFamBas_1.0561,656,017 - 61,672,730 (+)NCBI
UU_Cfam_GSD_1.0562,059,399 - 62,076,120 (+)NCBI
Park7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505831,937,508 - 31,951,577 (+)NCBI
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 - 68,645,520 (+)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 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl20123,776,297 - 123,798,434 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605427,810,002 - 27,834,129 (-)NCBIVero_WHO_p1.0
Park7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248183,900,917 - 3,915,457 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
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

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.


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 18
Medium 2438 2974 1725 623 1942 464 4357 2189 3732 418 1442 1613 175 1 1204 2788 6 2
Low 17 1 1 9 1 8 2 1
Below cutoff 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
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
  D61380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000338639   ⟹   ENSP00000340278
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl17,961,711 - 7,985,505 (+)Ensembl
RefSeq Acc Id: ENST00000377488   ⟹   ENSP00000366708
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl17,961,969 - 7,985,111 (+)Ensembl
RefSeq Acc Id: ENST00000377491   ⟹   ENSP00000366711
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl17,961,894 - 7,985,250 (+)Ensembl
RefSeq Acc Id: ENST00000377493   ⟹   ENSP00000466242
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl17,961,701 - 7,985,281 (+)Ensembl
RefSeq Acc Id: ENST00000460192
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl17,961,663 - 7,971,048 (+)Ensembl
RefSeq Acc Id: ENST00000465354
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl17,961,748 - 7,971,521 (+)Ensembl
RefSeq Acc Id: ENST00000469225   ⟹   ENSP00000466756
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl17,965,351 - 7,985,282 (+)Ensembl
RefSeq Acc Id: ENST00000493373   ⟹   ENSP00000465404
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl17,954,291 - 7,985,052 (+)Ensembl
RefSeq Acc Id: ENST00000493678   ⟹   ENSP00000418770
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl17,961,692 - 7,985,505 (+)Ensembl
RefSeq Acc Id: ENST00000497113
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 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
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
Sequence:
RefSeq Acc Id: XM_005263424   ⟹   XP_005263481
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3817,961,922 - 7,985,282 (+)NCBI
GRCh3718,021,714 - 8,045,342 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_009193   ⟸   NM_007262
- UniProtKB: Q99497 (UniProtKB/Swiss-Prot),   V9HWC2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001116849   ⟸   NM_001123377
- UniProtKB: Q99497 (UniProtKB/Swiss-Prot),   V9HWC2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005263481   ⟸   XM_005263424
- Peptide Label: isoform X1
- UniProtKB: Q99497 (UniProtKB/Swiss-Prot),   V9HWC2 (UniProtKB/TrEMBL)
- 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
Protein Domains
DJ-1_PfpI

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

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) single nucleotide variant not provided [RCV001643608] Chr1:7962137 [GRCh38]
Chr1:8022197 [GRCh37]
Chr1:1p36.23
benign
nsv513788 deletion Parkinson disease 7 [RCV000007479] Chr1:8022846..8037799 [GRCh37]
Chr1:1p36
pathogenic
NM_007262.5(PARK7):c.293G>A (p.Arg98Gln) single nucleotide variant 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 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 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 Parkinson disease 7 [RCV000007482] Chr1:7984930 [GRCh38]
Chr1:8044990 [GRCh37]
Chr1:1p36.23
pathogenic
NM_007262.5(PARK7):c.192G>C (p.Glu64Asp) single nucleotide variant 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 Parkinson disease 7 [RCV000395718] Chr1:7962858 [GRCh38]
Chr1:8022918 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_182914.3(SYNE2):c.12109-10_12109-7del single nucleotide variant 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 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 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 Parkinson Disease, Recessive [RCV000354945]|Parkinson disease 7 [RCV000555344]|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 Parkinson disease 7 [RCV000355899] Chr1:7985179 [GRCh38]
Chr1:8045239 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_001848.3(COL6A1):c.615G>A (p.Thr205=) 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 Parkinson disease 7 [RCV000405024] Chr1:7961718 [GRCh38]
Chr1:8021778 [GRCh37]
Chr1:1p36.23
benign
NM_001123377.1(PARK7):c.-69G>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 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 Parkinson disease 7 [RCV000347071]|not provided [RCV001672413] Chr1:7961747 [GRCh38]
Chr1:8021807 [GRCh37]
Chr1:1p36.23
benign|likely benign
NM_139279.6(MCFD2):c.249del (p.Asp83fs) single nucleotide variant 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 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 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 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 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 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 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 Parkinson disease 7 [RCV000706809] Chr1:7984995 [GRCh38]
Chr1:8045055 [GRCh37]
Chr1:1p36.23
uncertain significance
NM_007262.5(PARK7):c.105dup (p.Ala36fs) duplication Parkinson disease 7 [RCV000694924] Chr1:7965336..7965337 [GRCh38]
Chr1:8025396..8025397 [GRCh37]
Chr1:1p36.23
pathogenic
NC_000001.11:g.(?_7969325)_(7969424_?)del deletion 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
null deletion not provided [RCV001667068] Chr1:7984637..7984638 [GRCh38]
Chr1:8044697..8044698 [GRCh37]
Chr1:1p36.23
benign
NM_000085.5(CLCNKB):c.101-50G>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 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_004977.3(KCNC3):c.2093G>A (p.Arg698His) 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 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 Parkinson disease 7 [RCV000878685] Chr1:7984985 [GRCh38]
Chr1:8045045 [GRCh37]
Chr1:1p36.23
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 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 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 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 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 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
null 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 Parkinson disease 7 [RCV000797024] Chr1:7962813 [GRCh38]
Chr1:8022873 [GRCh37]
Chr1:1p36.23
uncertain significance
NC_000001.10:g.(?_8022836)_(8031035_?)dup duplication 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 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_018075.5(ANO10):c.1954A>G (p.Met652Val) single nucleotide variant not provided [RCV000959827]|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 Parkinson disease 7 [RCV001097594]|not provided [RCV000993895] Chr1:7965334 [GRCh38]
Chr1:8025394 [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_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001653189] Chr1:7970785 [GRCh38]
Chr1:8030845 [GRCh37]
Chr1:1p36.23
benign
NM_000059.4(BRCA2):c.10121C>T (p.Thr3374Ile) single nucleotide variant not provided [RCV001720386] Chr1:7965756 [GRCh38]
Chr1:8025816 [GRCh37]
Chr1:1p36.23
benign
null single nucleotide variant not provided [RCV001636320] Chr1:7969196 [GRCh38]
Chr1:8029256 [GRCh37]
Chr1:1p36.23
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001645611] Chr1:7961913 [GRCh38]
Chr1:8021973 [GRCh37]
Chr1:1p36.23
benign
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, deletion not provided [RCV001639707] Chr1:7969585 [GRCh38]
Chr1:8029645 [GRCh37]
Chr1:1p36.23
benign
NM_004360.5(CDH1):c.49-8C>T deletion not provided [RCV001716405] Chr1:7962713..7962714 [GRCh38]
Chr1:8022773..8022774 [GRCh37]
Chr1:1p36.23
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001685591] Chr1:7977436 [GRCh38]
Chr1:8037496 [GRCh37]
Chr1:1p36.23
benign
null single nucleotide variant not provided [RCV001618918] Chr1:7962111 [GRCh38]
Chr1:8022171 [GRCh37]
Chr1:1p36.23
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) 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_002055.5(GFAP):c.469G>A (p.Asp157Asn) 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
null single nucleotide variant not provided [RCV001595786] Chr1:7977604 [GRCh38]
Chr1:8037664 [GRCh37]
Chr1:1p36.23
benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) single nucleotide variant not provided [RCV001677467] Chr1:7965215 [GRCh38]
Chr1:8025275 [GRCh37]
Chr1:1p36.23
benign
null single nucleotide variant not provided [RCV001694405] Chr1:7969259 [GRCh38]
Chr1:8029319 [GRCh37]
Chr1:1p36.23
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) deletion not provided [RCV001656318] Chr1:7961851..7961868 [GRCh38]
Chr1:8021911..8021928 [GRCh37]
Chr1:1p36.23
benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) deletion not provided [RCV001677411] Chr1:7969441 [GRCh38]
Chr1:8029501 [GRCh37]
Chr1:1p36.23
benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) 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 Parkinson disease 7 [RCV001099355] Chr1:7985178 [GRCh38]
Chr1:8045238 [GRCh37]
Chr1:1p36.23
likely benign
NM_007262.5(PARK7):c.*185T>A single nucleotide variant Parkinson disease 7 [RCV001099356] Chr1:7985239 [GRCh38]
Chr1:8045299 [GRCh37]
Chr1:1p36.23
uncertain significance
null 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
null single nucleotide variant not provided [RCV001584997] Chr1:7969066 [GRCh38]
Chr1:8029126 [GRCh37]
Chr1:1p36.23
likely benign
null deletion not provided [RCV001612260] Chr1:7962741..7962742 [GRCh38]
Chr1:8022801..8022802 [GRCh37]
Chr1:1p36.23
benign
null single nucleotide variant not provided [RCV001694210] Chr1:7969450 [GRCh38]
Chr1:8029510 [GRCh37]
Chr1:1p36.23
benign
null deletion not provided [RCV001708742] Chr1:7977986..7977995 [GRCh38]
Chr1:8038046..8038055 [GRCh37]
Chr1:1p36.23
benign
null 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 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 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 Parkinson disease 7 [RCV001542552]|Young-onset Parkinson disease [RCV001449623]|not provided [RCV001268696] Chr1:7984955..7984957 [GRCh38]
Chr1:8045015..8045017 [GRCh37]
Chr1:1p36.23
likely pathogenic
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
null 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 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 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 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
null single nucleotide variant not provided [RCV001675399] Chr1:7970994 [GRCh38]
Chr1:8031054 [GRCh37]
Chr1:1p36.23
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) 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_000334.4(SCN4A):c.318C>T (p.Ser106=) single nucleotide variant not provided [RCV001724576] Chr1:7962693 [GRCh38]
Chr1:8022753 [GRCh37]
Chr1:1p36.23
benign
null deletion not provided [RCV001674379] Chr1:7977986..7977987 [GRCh38]
Chr1:8038046..8038047 [GRCh37]
Chr1:1p36.23
benign
null deletion not provided [RCV001619199] Chr1:7962741 [GRCh38]
Chr1:8022801 [GRCh37]
Chr1:1p36.23
benign

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 Protein ENSP00000340278 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000366708 UniProtKB/Swiss-Prot
  ENSP00000366711 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000418770 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000465404 UniProtKB/Swiss-Prot
  ENSP00000466242 UniProtKB/TrEMBL
  ENSP00000466756 UniProtKB/TrEMBL
Ensembl Transcript ENST00000338639 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000377488 UniProtKB/Swiss-Prot
  ENST00000377491 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000377493 UniProtKB/TrEMBL
  ENST00000469225 UniProtKB/TrEMBL
  ENST00000493373 UniProtKB/Swiss-Prot
  ENST00000493678 ENTREZGENE, 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
  606324 OMIM
Pfam DJ-1_PfpI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32946 PharmGKB
Superfamily-SCOP SSF52317 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs not_thiJ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt K7ELW0_HUMAN UniProtKB/TrEMBL
  K7EN27_HUMAN UniProtKB/TrEMBL
  PARK7_HUMAN UniProtKB/Swiss-Prot, 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