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Center for Computational Systems Medicine
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Gene Summary

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Translation studies in PubMed

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Exon Skipping Events

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Expression

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Expression Regulation

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Associated Genes

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Protein 3D Structure

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Protein-Protein Interaction

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Mutations

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Prognostic Analysis

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Gender Association

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Age Association

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Related Drugs

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Related Diseases

Translation Factor: PINK1 (NCBI Gene ID:65018)


Gene Summary

check button Gene Summary
Gene InformationGene Name: PINK1
Gene ID: 65018
Gene Symbol

PINK1

Gene ID

65018

Gene NamePTEN induced kinase 1
SynonymsBRPK|PARK6
Cytomap

1p36.12

Type of Geneprotein-coding
Descriptionserine/threonine-protein kinase PINK1, mitochondrialPTEN induced putative kinase 1PTEN-induced putative kinase protein 1protein kinase BRPK
Modification date20200329
UniProtAcc

Q9BXM7


check button Child GO biological process term(s) under GO:0006412
GO IDGO term
GO:0006417Regulation of translation
GO:0045727Positive regulation of translation
GO:0006412Translation


check button Gene ontology of translaction factor with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgenePINK1

GO:0001934

positive regulation of protein phosphorylation

25244949

HgenePINK1

GO:0002082

regulation of oxidative phosphorylation

20871098

HgenePINK1

GO:0006468

protein phosphorylation

14607334|21177249|25527291

HgenePINK1

GO:0018105

peptidyl-serine phosphorylation

17579517|19880420

HgenePINK1

GO:0031396

regulation of protein ubiquitination

19880420

HgenePINK1

GO:0033138

positive regulation of peptidyl-serine phosphorylation

21177249

HgenePINK1

GO:0035556

intracellular signal transduction

14607334

HgenePINK1

GO:0043123

positive regulation of I-kappaB kinase/NF-kappaB signaling

19880420

HgenePINK1

GO:0043254

regulation of protein complex assembly

19880420

HgenePINK1

GO:1903202

negative regulation of oxidative stress-induced cell death

16632486

HgenePINK1

GO:1903214

regulation of protein targeting to mitochondrion

25244949

HgenePINK1

GO:1903384

negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway

21177249

HgenePINK1

GO:1903751

negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide

17579517

HgenePINK1

GO:2001243

negative regulation of intrinsic apoptotic signaling pathway

15087508



check button Inferred gene age of translation factor.
GeneInferred gene age group among (0 - 67.6], (67.6 - 355.7], (355.7 - 733], (733 - 1119.25], >1119.25
PINK1(733 - 1119.25]


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Translation Studies in PubMed

check button We searched PubMed using 'PINK1[title] AND translation [title] AND human.'
GeneTitlePMID
PINK1Cytosolic PINK1 orchestrates protein translation during proteasomal stress by phosphorylating the translation elongation factor eEF1A133354788


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Exon Skipping Events

check buttonSkipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
For more annotations, please visit our ExonSkipDB.
all structure

check button Open reading frame (ORF) analsis of exon skipping events based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ENSTExon skip start (DNA)Exon Skip end (DNA)ORF
ENST000003215562097098220971165In-frame
ENST000003215562097205220972216Frame-shift
ENST000003215562097499720975125Frame-shift
ENST000003215562097548720975724In-frame

check button Exon skipping position in the amino acid sequence.
ENSTExon skip start (DNA)Exon Skip end (DNA)Len(transcript seq)Exon skip start (mRNA)Exon Skip end (mRNA)Len(amino acid seq)Exon skip start (AA)Exon Skip end (AA)
ENST00000321556209709822097116526778711053581259319
ENST000003215562097548720975724267713461582581417496

check button Potentially (partially) lost protein functional features of UniProt.
UniProtAccExon skip start (AA)Exon Skip end (AA)Function feature start (AA)Function feature end (AA)Functional feature typeFunctional feature desc.
Q9BXM725931978581ChainID=PRO_0000024369;Note=Serine/threonine-protein kinase PINK1%2C mitochondrial
Q9BXM741749678581ChainID=PRO_0000024369;Note=Serine/threonine-protein kinase PINK1%2C mitochondrial
Q9BXM7259319111581Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9BXM7417496111581Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9BXM7259319156511DomainNote=Protein kinase;Ontology_term=ECO:0000255,ECO:0000305;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000305
Q9BXM7417496156511DomainNote=Protein kinase;Ontology_term=ECO:0000255,ECO:0000305;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000305
Q9BXM72593191307Alternative sequenceID=VSP_050754;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9BXM7259319308320Alternative sequenceID=VSP_050755;Note=In isoform 2. LGHGRTLFLVMKN->MCGSQRPSPLSTS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9BXM7259319263263Natural variantID=VAR_046583;Note=R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15596610;Dbxref=PMID:15596610
Q9BXM7259319268268Natural variantID=VAR_046584;Note=In PARK6. L->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16207217,ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs372280083,PMID:16207217,PMID:18330912
Q9BXM7259319271271Natural variantID=VAR_046585;Note=In PARK6. H->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15349870;Dbxref=dbSNP:rs28940284,PMID:15349870
Q9BXM7259319276276Natural variantID=VAR_046586;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs548506734,PMID:18330912
Q9BXM7259319279279Natural variantID=VAR_046587;Note=In PARK6. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15970950;Dbxref=dbSNP:rs74315358,PMID:15970950
Q9BXM7259319280280Natural variantID=VAR_062774;Note=In PARK6%3B early-onset. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16482571;Dbxref=dbSNP:rs772510148,PMID:16482571
Q9BXM7259319296296Natural variantID=VAR_046588;Note=P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15349860,ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs779060308,PMID:15349860,PMID:18330912
Q9BXM7259319305305Natural variantID=VAR_018993;Note=P->L;Dbxref=dbSNP:rs7349186
Q9BXM7259319309309Natural variantID=VAR_018994;Note=In PARK6%3B fails to maintain mitochondrial membrane potential%3B full-length mutant has no effect on autophosphorylation%3B strongly reduces interaction with PRKN%3B decreases PRKN and SNCAIP ubiquitination and degradation. G->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15087508,ECO:0000269|PubMed:16207731,ECO:0000269|PubMed:19229105,ECO:0000269|PubMed:20798600;Dbxref=dbSNP:rs74315355,PMID:15087508,PMID:16207731,PMID:19229105,PMID:20798600
Q9BXM7259319313313Natural variantID=VAR_046589;Note=In PARK6%3B decreases PRKN and SNCAIP ubiquitination and degradation. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17030667,ECO:0000269|PubMed:19229105;Dbxref=dbSNP:rs74315359,PMID:17030667,PMID:19229105
Q9BXM7259319317317Natural variantID=VAR_046590;Note=V->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16969854,ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs200949139,PMID:16969854,PMID:18330912
Q9BXM7259319318318Natural variantID=VAR_046591;Note=M->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15596610;Dbxref=dbSNP:rs139226733,PMID:15596610
Q9BXM7417496417417Natural variantID=VAR_046599;Note=In PARK6. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15349870;Dbxref=PMID:15349870
Q9BXM7417496425425Natural variantID=VAR_046600;Note=P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15596610;Dbxref=dbSNP:rs554114655,PMID:15596610
Q9BXM7417496431431Natural variantID=VAR_046601;Note=May predispose to Parkinson disease development%3B shows decreased mitochondrial membrane potential under stress conditions. Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16969854;Dbxref=dbSNP:rs74315361,PMID:16969854
Q9BXM7417496442442Natural variantID=VAR_046602;Note=I->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15349860,ECO:0000269|PubMed:18330912;Dbxref=PMID:15349860,PMID:18330912
Q9BXM7417496451451Natural variantID=VAR_046603;Note=May predispose to Parkinson disease development%3B shows decreased mitochondrial membrane potential under stress conditions. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16969854;Dbxref=dbSNP:rs747400197,PMID:16969854
Q9BXM7417496456581Natural variantID=VAR_078935;Note=In PARK6. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24652937;Dbxref=PMID:24652937
Q9BXM7417496461461Natural variantID=VAR_046604;Note=L->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16969854;Dbxref=PMID:16969854
Q9BXM7417496464464Natural variantID=VAR_046605;Note=In PARK6. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15349860;Dbxref=dbSNP:rs764328076,PMID:15349860
Q9BXM7417496476476Natural variantID=VAR_046606;Note=May predispose to Parkinson disease development%3B shows decreased mitochondrial membrane potential under stress conditions. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15349860,ECO:0000269|PubMed:15596610,ECO:0000269|PubMed:16009891,ECO:0000269|PubMed:16969854,ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs115477764,PMID:15349860,PMID:15596610,PMID:16009891,PMID:16969854,PMID:18330912
Q9BXM7417496477477Natural variantID=VAR_041017;Note=S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs34416410,PMID:17344846
Q9BXM7417496489489Natural variantID=VAR_046607;Note=In PARK6. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15596610;Dbxref=PMID:15596610
Q9BXM7417496419419Sequence conflictNote=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305


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Expression


check buttonGene expression level across TCGA pancancer
all structure

check buttonGene expression level across GTEx pantissue
all structure

check buttonExpression level of gene isoforms across TCGA pancancer
all structure

check buttonExpression level of gene isoforms across GTEx pantissue
all structure

check buttonCancer(tissue) type-specific expression level of Translation factor using z-score distriution
all structure

check buttonDifferential expression between tumor and matched normal (in the cancer types with more than 10 matched samples)
all structure
Cancer typeTranslation factorFCadj.pval
KIRPPINK1-2.26374468281919.31322574615479e-10


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Expression Regulation


check buttonTranslation factor expression regulation through miRNA binding
Cancer typeGenemiRNATargetScan binding score (Context++ score percentile)CoefficientPvalue


check buttonTranslation factor expression regulation through methylation in the promoter of Translation factor
all structure
Cancer typeGenemethyl group bmethyl group aDEG pvalavg methyl in bavg methyl in aavg exp in bavg exp in a

check buttonTranslation factor expression regulation through methylation in the gene body of Translation factor (positive regulation)
all structure
Cancer typeGenemethyl group bmethyl group aDEG pvalavg methyl in bavg methyl in aavg exp in bavg exp in a
UVMPINK1320.02655702306517640.6186906976744190.5667090090090090.6746093680190790.896828475498978

check buttonTranslation factor expression regulation through copy number variation of Translation factor
all structure
Cancer typeGeneCoefficientPvalue
STADPINK10.0492808710.037750531
PCPGPINK1-0.0575005350.046812481
UVMPINK1-0.0965231810.049058159

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Associated Genes


check button Strongly correlated genes belong to cellular important gene groups with PINK1 (coefficient>0.8, pval<0.05, node color based on FC between tumor and matched normal). Significantly associated important genes in the individual cancer types. * Cell metabolism gene: cell metabolism genes from REACTOME (black edge), IUPHAR: drug target genes from IUPHAR (blue edge), Kinase: human kinase genes (brown edge), CGC: cancer gene census genes (orange edge), TSG: tumor suppresor genes (purple edge), Epifactor: epigenetic factors (light blue edge), TF: transcription factors (green)
all structure
Cancer typeGene groupTranslation factorCorrelated geneCoefficientPvalue
CHOLCell metabolism genePINK1LIPG0.8005373614.09E-11
CHOLCell metabolism genePINK1CAT0.8006082374.07E-11
CHOLCell metabolism genePINK1ACP20.8010185963.91E-11
CHOLCell metabolism genePINK1A2M0.804529862.77E-11
CHOLCell metabolism genePINK1MLYCD0.8078900451.98E-11
CHOLCell metabolism genePINK1ADI10.8113256041.39E-11
CHOLCell metabolism genePINK1HAGH0.8129807621.17E-11
CHOLCell metabolism genePINK1GCDH0.8145710279.92E-12
CHOLCell metabolism genePINK1ACAT20.8145957929.89E-12
CHOLCell metabolism genePINK1SMPD10.8147549169.73E-12
CHOLCell metabolism genePINK1CRAT0.8158099578.70E-12
CHOLCell metabolism genePINK1QDPR0.8178886636.97E-12
CHOLCell metabolism genePINK1AASS0.8180365926.86E-12
CHOLCell metabolism genePINK1HADH0.8207078195.14E-12
CHOLCell metabolism genePINK1EBP0.8229826424.00E-12
CHOLCell metabolism genePINK1SLC25A200.8232264723.89E-12
CHOLCell metabolism genePINK1ACAA10.8254957263.02E-12
CHOLCell metabolism genePINK1GLUD10.8288974382.05E-12
CHOLCell metabolism genePINK1ACAA20.8314158141.53E-12
CHOLCell metabolism genePINK1HMGCL0.8317240421.48E-12
CHOLCell metabolism genePINK1HSD17B40.8323193831.38E-12
CHOLCell metabolism genePINK1DHRS30.8538773978.97E-14
CHOLCell metabolism genePINK1SDHB0.90820397.19E-18
CHOLCGCPINK1SDHB0.90820397.19E-18
CHOLIUPHARPINK1CD140.8005152014.10E-11
CHOLIUPHARPINK1LIPG0.8005373614.09E-11
CHOLIUPHARPINK1CAT0.8006082374.07E-11
CHOLIUPHARPINK1MLYCD0.8078900451.98E-11
CHOLIUPHARPINK1ABHD60.8107676891.47E-11
CHOLIUPHARPINK1IL17RC0.8140335061.05E-11
CHOLIUPHARPINK1ACAT20.8145957929.89E-12
CHOLIUPHARPINK1SMPD10.8147549169.73E-12
CHOLIUPHARPINK1SLC25A200.8232264723.89E-12
CHOLTSGPINK1CAT0.8006082374.07E-11
CHOLTSGPINK1SEC14L20.8301918641.77E-12
CHOLTSGPINK1SDHB0.90820397.19E-18
DLBCCell metabolism genePINK1SLC27A10.8709883238.46E-16
DLBCIUPHARPINK1SLC27A10.8709883238.46E-16
UVMIUPHARPINK1STK400.8028063673.39E-19
UVMIUPHARPINK1ATP13A20.8153030493.40E-20
UVMKinasePINK1STK400.8028063673.39E-19


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Protein structure


check button Protein 3D structure
Visit iCn3D.


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Protein-Protein Interaction


check button Protein-protein interaction networks
* Overlap between up-regulated DEGs (log2FC<-1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))
all structure

check buttonOverlap between down-regulated DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))
all structure
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* Edge colors based on TCGA cancer types.

check button* Overlap between DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network per cancer (center: Translation factor, node: DEGs, node color: log2FC, edges: weighted by -log2(adj.P))
all structure
Cancer typeTranslation factorInteracting protein coding geneFCadj.pval
KIRPPINK1MFN2-1.9649051949660.00019507110118866
LIHCPINK1HSP90AA1-1.871377396719020.0003817245773207
LUADPINK1TOMM20-3.25984838285940.000414758264772899
HNSCPINK1HTRA2-2.414292775667660.000434366491617767
PRADPINK1TOMM40-1.001147822029490.000446900910528855
BLCAPINK1UBC-2.971033184064180.0016937255859375
KIRPPINK1UBC-2.21860837128780.00192895717918873
CHOLPINK1MFN1-3.063975424347140.00390625
BRCAPINK1PARK7-1.852419080658880.00423186395582696
PRADPINK1UBC1.383404549729110.00482349779780149
LIHCPINK1HTRA2-4.392667159433820.00629744811636732
COADPINK1UBC1.148296759786320.012952595949173
UCECPINK1MFN21.986790298015390.015625
BRCAPINK1UBC-4.443317071628220.0160227796839167
BLCAPINK1MFN2-1.835528509757770.0180816650390625
HNSCPINK1BECN1-2.309301094612520.0224968952327345
ESCAPINK1HSP90AA1-2.954078329285750.0322265625
BRCAPINK1HSP90AA12.19782205770151.13731762084626e-08
KIRPPINK1TOMM40-1.807615485369181.26352533698082e-05
LUADPINK1TOMM40-6.358275221383441.73136890199295e-07
LUSCPINK1HTRA2-3.113551407399281.87745299554279e-05
BRCAPINK1TOMM40-1.637397192447162.59466877666355e-22
LIHCPINK1TOMM20-5.329772792713082.71217975233539e-06
STADPINK1HSP90AA1-1.657051254302853.51201742887497e-06
LUADPINK1PARK7-2.795213919855394.74567569196557e-06
THCAPINK1PARK2-2.130673905321255.35914250842086e-10
LIHCPINK1MFN2-1.810080224495366.42974535181198e-05


check button Protein-protein interactors with this translation factor (BIOGRID-3.4.160)
PPI interactors with PINK1
PARK2, PTEN, PINK1, MAP1B, PRKDC, IRS4, KIF11, PSMD1, PSMD2, HSP90AA1, HSPA4, TUBA1A, TUBB, CDC37, PSMC6, PGAM5, PARL, SNCAIP, MAP1LC3A, HSP90AB1, SNCA, MARK2, PARK7, RHOT1, HTRA2, TOMM20, TOMM40, TOMM70A, TOMM22, RICTOR, MAPKAP1, AKT1, UBE2M, COPS8, TRAF6, MAP3K7, TOLLIP, IRAK1, VIM, SARM1, HSPA1A, HSPA1B, RB1CC1, FBXO7, BAG2, CRLS1, UBC, BCL2L1, BCL2L2, MCL1, RHOT2, IMMT, NAE1, TGM2, KRAS, HSH2D, SOCS4, APPL2, STAT3, HSD17B10, DNM1L, BAG5, BNIP3, SAMM50, MAP1LC3B, SQSTM1, ULK1, TRAF3, IRF3, YAP1, VCP, PSMB5, TIMM50, PRKACA, NSFL1C, HSPA8, HSPA1L, HSPA6, HSPA2, HSPA5, MYH9, CSE1L, ACTB, HNRNPM, THRAP3, SPTAN1, SPTBN1, SON, ACTG2, LDHB, PABPC1, EEF1A1, EEF1A1P5, AIFM1, HSPA9, TUBA1B, TUBA1C, TUBB4B, MYH10, PABPC4, LIMCH1, FLNA, YWHAE, PABPN1, WRNIP1, SRRM2, GAPDH, HNRNPA2B1, HNRNPC, EIF4A1, DDX17, HNRNPA1, TACC3, HSP90B1, ENO1, HNRNPU, ATXN2L, PNN, FASN, PLEC, KCTD3, DBN1, LMO7, CLTC, PKM, NUFIP2, ALB, TRAP1, DHX9, MCM2, LMNA, ATP5A1, LMNB1, MAGED2, HNRNPR, AHCY, MYO1C, PDIA4, HADHA, TCP1, RPL13, BCLAF1, SNRNP200, EIF4A3, RPS14, DSP, PRDX1, JUP, RPS3, PSMD3, RAN, PFN1, ATRIP, XRCC6, FLG2, ACIN1, DDX5, EEF2, MDH2, STIP1, PPFIA3, TKT, RPN1, PRPF8, MSN, CASP14, PLS3, SF3B3, SHKBP1, NCL, LDHA, DDX3X, FUS, RPL17, IGF2BP1, TUBB6, KARS, CCT3, SPTBN2, RBM25, ILF3, ALDOA, SYNCRIP, SCN5A, DHX15, FLNB, GNB2L1, MPRIP, RPL22, PRPF4B, RARS, IARS, NEXN, ATAD3A, RPS18, YWHAZ, LARS, IRF2BP2, TRIM28, RPSA, EPRS, HNRNPL, SRRM1, SRSF7, EFTUD2, ACLY, YBX1, RPL29, ATAD3B, MATR3, IQGAP1, SF3B2, PDCD6IP, GARS, ATP1A1, CCT6A, HNRNPK, S100A9, ATIC, DSG1, CALML5, MARCKS, PRDX2, SF3A1, SART1, RAI14, CCT5, TLN1, DSC1, EEF1G, GANAB, RBM14, CFL1, MIF, SMC4, SND1, CTPS1, SSB, DCD, MCM3, RPL24, PRPF40A, FARSB, C1orf35, RPS16, RDX, FLG, ZC3H13, SF3B1, HDLBP, PRMT5, MTHFD1, ASNS, ANXA2P2, RAB1B, CA2, BAG3, ATP6V1A, CCT8, TXN, PRDX6, RPL23A, SBSN, CLINT1, EZR, CRNKL1, TXLNA, PCM1, LRPPRC, GSN, PA2G4, CXorf57, DDX39B, EIF3A, LIMA1, SRP68, RPS8, IMPDH2, CTSD, PRKCSH, DLAT, PRSS1, LCN1, PPIA, RPL11, PSAT1, RPL19, SLC3A2, DHX8, DSG2, EIF3C, DDX6, SFPQ, UBQLN2, ZNF326, ADRM1, CDSN, EIF3B, GPI, KIF1C, MAGED1, NUP210, ACSL3, PPIB, NPM1, PPP2R1A, RPN2, LGALS7, IGF2BP3, PHB2, HNRNPH1, HNRNPH2, NACA, NUP93, YWHAQ, HIST1H1E, YWHAG, DST, HIST1H1D, HAND2, VCL, RPS6, LUZP1, GATAD2A, SMC3, MISP, RBM15, TRPC4, SPECC1L, FXR1, CEBPZ, MYO1B, CAD, BCAP31, ZC3H14, DIS3, AKR1B1, SDHA, EIF3L, MAGEE1, HSPD1, DYNC1I2, ARF1, SLC25A5, NONO, LMNB2, BAG6, HIST1H2BB, HIST1H2BD, HIST1H2BH, HIST1H2BJ, HIST1H2BK, HIST1H2BL, HIST1H2BM, HIST1H2BN, HIST1H2BO, HIST2H2BE, HIST2H2BF, HIST3H2BB, H2BFS, MDH1, NME2P1, NME1, NME2, CTTN, TUFM, HIST1H4A, CGN, DYNC1H1, MYO6, AHNAK, TPI1, RPL7, GCN1L1, ACACA, RPS3A, GMPS, HNRNPA3, FUBP3, COL1A1, LARP7, NOP2, EPPK1, FLNC, AKAP2, MCM6, DDX21, VARS, CCT4, RPS15A, MSH6, RPL27, RBMX, DDX41, RPL5, SEPT9, SLC25A3, EIF5B, MOV10, CANX, SRP72, KHDRBS1, UQCRC2, HYOU1, GART, PTCD3, UBAP2, HIST1H2AB, HIST1H2AC, HIST1H2AD, HIST1H2AH, HIST1H2AJ, HIST1H2AG, HIST2H2AA3, HIST2H2AC, HIST3H2A, H2AFJ, RPL18, GGCT, RNPEP, FABP5, C4A, C4B, ST13, ST13P4, RPL28, EIF2S1, RPL35, ASPSCR1, NPLOC4, NCDN, PFAS, VDAC1, CD44, PFN2, IGF2BP2, MTA2, NUMA1, CHD4, RANBP2, ZNF804B, CCDC79, ATR, LRRFIP1, ZC3H3, PARP1, RBM39, CILP2, MCM4, ATP2A2, UBE2O, A2M, SRSF4, RPL10, HUWE1, NUP155, SUGP2, SUPT16H, USP36, COL5A3, SHROOM3, ARCN1, DROSHA, ITGA6, CDC40, ANXA6, FHOD1, SPAG9, SMC1A, RBM27, RPL9, EIF4B, NPEPPS, RPS7, VDAC2, UBA1, CUX1, PKP2, SMPDL3B, PPP1R12A, NKTR, CCT7, RPS26P11, RPL14, CALR, DHX16, ZYX, HTATSF1, PCK2, LARP1, IARS2, CACYBP, TRIM32, NDUFS1, IFT74, SPECC1, TGM3, MRE11A, KHSRP, CD55, DNAJC7, S100A7, RPL12, RPS9, RAB5C, PSMA7, OPA1, ARHGDIA, KLHL9, GAN, CSTA, RPL21, SEMG1, ARAF, SEC23A, PAICS, S100A8, FKBP4, PIWIL3, SLC1A5, MCM5, RPL27A, CASC3, ACTN4, ECD, FUBP1, GSPT1, FANCG, HNRNPD, RBBP4, RBBP7, U2SURP, TCF25, UBE4B, SEC61B, AMFR, FKBP5, ERLIN1, NEAT1, NEDD4L, CLUH, HSP90AB4P, FTL, HSP90AA4P, PSMD11, HSP90AA5P, NSDHL, PLG, IGHA1, TF, ARHGEF1, PAPL, FADS2, FAM129B, EHD4, ACSL1, DHRS9, LGALS7B, ANXA8, PKP3, IGHG4, IGHG1, CYB5R1, CYB5R2, FGG, PICALM, CRYAB, SERPINA3, DHRS1, GOLGA2, ARHGAP1, MSMO1, DSG3, RAB3D, IGLC2, PLA2G4D, SAR1B, IGLL5, HMOX1, ATP12A, IL36G, FAM213A, GDPD3, CKAP4, PMVK, SLC25A31, CBR1, CAPNS2, RPS4Y1, GSTM3, CBR3, KLK7, KLK10, PC, AHNAK2, ACAA2, POR, IDH2, NLRX1, FGB, GSDMA, SERPINB2, RAB38, AKR1C2, A2ML1, PCYOX1, PPL, IMPA2, TGM1, TYMP, IGKC, AGR2, PIP4K2C, DSC3, GM2A, SERPINB13, NAGK, ARF5, SULT2B1, SERPINA9, CALML3, CTSV, NDRG2, TRIM29, SDR9C7, KLK6, FDFT1, ENDOU, NCCRP1, C1QB, HEPHL1, ACPP, ALOX15B, RAB18, PM20D1, APOH, NES, IVL, HSP90AB3P, ORM1, GLUL, RAB14, NDRG1, SQRDL, PLA2G4E, S100A2, TRIM16, LCN2, PKP1, SERPINB4, SERPINB3, IGHG3, IGHG2, DBNL, SERPINB7, APCS, MGST1, C1QC, C3, CST6, S100A7A, HMGCS1, RDH12, PI3, EVPL, DSC2, PLIN2, IL1RN,


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Mutations


check button Clinically associated variants from ClinVar.
GeneChrPositionRefSeqVarSeqRefSeeqVarTypePathogenicDiseaseVarInfo
PINK1chr120959746TCsingle_nucleotide_variantBenignnot_provided
PINK1chr120960054CTsingle_nucleotide_variantPathogenicParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001587|nonsenseSO:0001587|nonsense
PINK1chr120960072CAsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120960108GAsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityParkinson_disease_6,_autosomal_recessive_early-onset|not_specified|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120960117GCsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120960129GCsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120960165CTsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120960194AGsingle_nucleotide_variantLikely_benignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variantSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant
PINK1chr120960196CTsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120960202CAsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120960206GAsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variantSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant
PINK1chr120960210CTsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120960230CTsingle_nucleotide_variantBenignParkinson_disease_6,_autosomal_recessive_early-onset|not_specified|not_providedSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variantSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant
PINK1chr120960259CTsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120960308CTsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityParkinson_disease_6,_autosomal_recessive_early-onset|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PINK1chr120960313GCGDeletionPathogenicParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PINK1chr120960320GCsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PINK1chr120960362GCGDeletionUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PINK1chr120960385ATsingle_nucleotide_variantBenignParkinson_disease_6,_autosomal_recessive_early-onset|not_specified|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120960442GAsingle_nucleotide_variantLikely_benignParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120964066GAsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120964242CTsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120964269CCTCDeletionBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120964270CGsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120964328AGsingle_nucleotide_variantBenignParkinson_disease_6,_autosomal_recessive_early-onset|not_specified|not_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120964332CTsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120964361GAsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PINK1chr120964364GTsingle_nucleotide_variantUncertain_significancenot_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PINK1chr120964373GAsingle_nucleotide_variantLikely_benignParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PINK1chr120964381CTsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityParkinson_disease_6,_autosomal_recessive_early-onset|not_specified|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120964382GAsingle_nucleotide_variantLikely_benignParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PINK1chr120964396GAsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120964401CTsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120964435GAsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120964449GCsingle_nucleotide_variantLikely_pathogenicPINK1-Related_Parkinsonism|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120964484CTsingle_nucleotide_variantLikely_benignParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PINK1chr120964505GCsingle_nucleotide_variantBenignParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120964511CTsingle_nucleotide_variantLikely_benignParkinson_disease_6,_autosomal_recessive_early-onset|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PINK1chr120964512GAsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onset|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120964534CTsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onset|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120964545GCGDeletionPathogenicParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PINK1chr120964566CGCDeletionPathogenicParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PINK1chr120964567GAsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120964571TCsingle_nucleotide_variantLikely_benignParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PINK1chr120964573CTsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120964591CTsingle_nucleotide_variantUncertain_significanceParkinson_disease,_late-onsetSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120964597CAsingle_nucleotide_variantPathogenicParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120964612GAsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001587|nonsenseSO:0001587|nonsense
PINK1chr120964622GAsingle_nucleotide_variantUncertain_significancenot_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PINK1chr120964672TCsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120964789ATsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120966086GAsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120966145TCsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120966308GAsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120966399CTsingle_nucleotide_variantLikely_benignParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PINK1chr120966404CTsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120966418AGsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120966445CTsingle_nucleotide_variantPathogenicParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001587|nonsenseSO:0001587|nonsense
PINK1chr120966454TGsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onset|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120966479CTsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onset|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120966483CAsingle_nucleotide_variantPathogenicParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001587|nonsenseSO:0001587|nonsense
PINK1chr120966495CTsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120966522CTTTCDeletionUncertain_significancenot_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120971005CTsingle_nucleotide_variantnot_providedParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001587|nonsenseSO:0001587|nonsense
PINK1chr120971008CGsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onset|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120971010AGsingle_nucleotide_variantBenignParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PINK1chr120971019CAsingle_nucleotide_variantPathogenicParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120971019CTsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PINK1chr120971032CTsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120971033GAsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120971041CTsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120971042GAsingle_nucleotide_variantPathogenicParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120971044GAsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120971057CAsingle_nucleotide_variantUncertain_significancenot_specifiedSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120971058CTsingle_nucleotide_variantLikely_benignParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PINK1chr120971063CTsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120971064GAsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityParkinson_disease_6,_autosomal_recessive_early-onset|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PINK1chr120971071CAsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120971093CTsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120971111GAsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120971121TAsingle_nucleotide_variantUncertain_significancenot_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PINK1chr120971129TAsingle_nucleotide_variantUncertain_significanceParkinson_disease,_late-onsetSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120971132GAsingle_nucleotide_variantPathogenicParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120971141GAsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120971142GAsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityParkinson_disease_6,_autosomal_recessive_early-onset|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PINK1chr120971144CTsingle_nucleotide_variantPathogenicParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120971145GAsingle_nucleotide_variantLikely_benignnot_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PINK1chr120971148GAsingle_nucleotide_variantLikely_benignParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PINK1chr120971154CTsingle_nucleotide_variantBenignParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PINK1chr120971155GAsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120971158ATsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onset|not_specified|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120971237GCsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120971464CTsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120971875GAsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120971911GCsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120971980CCADuplicationBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120971980CCAADuplicationBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120971980CCAAADuplicationBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120971980CCAAAADuplicationLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120971980CACDeletionBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120971998CAsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120971999GAsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120972042CGsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120972042CTsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityParkinson_disease_6,_autosomal_recessive_early-onset|not_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120972048GAsingle_nucleotide_variantBenignParkinson_disease_6,_autosomal_recessive_early-onset|not_specified|not_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120972055AGsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120972096AGsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120972103GAsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120972108GAsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityParkinson_disease_6,_autosomal_recessive_early-onset|not_providedSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120972111GAsingle_nucleotide_variantBenignParkinson_disease_6,_autosomal_recessive_early-onset|not_specified|not_providedSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120972116GAsingle_nucleotide_variantLikely_benignParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120972117ACsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120972133TCsingle_nucleotide_variantPathogenicParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120972158AGsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variantSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant
PINK1chr120972168GAsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120972170GAsingle_nucleotide_variantLikely_benignParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variantSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant
PINK1chr120972188CTsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityParkinson_disease_6,_autosomal_recessive_early-onset|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PINK1chr120972189GAsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120972201GAsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PINK1chr120972235AGsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120972304GGTTTTGTGTTCTAAGDeletionBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120972340GAsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120972373CGCDeletionBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120973462TCCCAGGTTCAAGCAATTCTCGTGCCTCCGCCTCCTGAGTAGCTAGGATTACAGGCAGGTGCCACCACGCCTAGCTAATTTTTGATTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAAGCTCTACCTCCCAGGTTCACACCATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATDeletionPathogenicParkinson_disease_6,_autosomal_recessive_early-onset
PINK1chr120974740AGsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120974802AGsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
PINK1chr120974836GCGDeletionBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001627|intron_variantSO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant
PINK1chr120975021GAsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityParkinson_disease_6,_autosomal_recessive_early-onset|not_providedSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120975027TCsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120975036TCsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120975047TCsingle_nucleotide_variantBenign/Likely_benignParkinson_disease_6,_autosomal_recessive_early-onset|not_providedSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variantSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant
PINK1chr120975068GAsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variantSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant
PINK1chr120975070CTsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onset|Parkinson_disease,_autosomal_recessive_early-onset,_digenic,_PINK1/DJ1SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120975086CGsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001587|nonsense,SO:0001619|non-coding_transcript_variantSO:0001587|nonsense,SO:0001619|non-coding_transcript_variant
PINK1chr120975094GAsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120975105GAsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityParkinson_disease_6,_autosomal_recessive_early-onset|not_providedSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120975130GAsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001619|non-coding_transcript_variant,SO:0001627|intron_variantSO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant
PINK1chr120975135GAsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityParkinson_disease_6,_autosomal_recessive_early-onset|not_providedSO:0001619|non-coding_transcript_variant,SO:0001627|intron_variantSO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant
PINK1chr120975168CTsingle_nucleotide_variantBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001627|intron_variantSO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant
PINK1chr120975278CTsingle_nucleotide_variantLikely_benignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001627|intron_variantSO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant
PINK1chr120975463TCsingle_nucleotide_variantBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001627|intron_variantSO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant
PINK1chr120975487GAsingle_nucleotide_variantLikely_pathogenicParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001574|splice_acceptor_variant,SO:0001619|non-coding_transcript_variantSO:0001574|splice_acceptor_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120975527TCsingle_nucleotide_variantrisk_factorParkinson_disease_6SO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120975547GAsingle_nucleotide_variantPathogenicParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001587|nonsense,SO:0001619|non-coding_transcript_variantSO:0001587|nonsense,SO:0001619|non-coding_transcript_variant
PINK1chr120975598CTsingle_nucleotide_variantLikely_benignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variantSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant
PINK1chr120975602CTsingle_nucleotide_variantPathogenicParkinson_disease_6,_autosomal_recessive_early-onset|not_providedSO:0001587|nonsense,SO:0001619|non-coding_transcript_variantSO:0001587|nonsense,SO:0001619|non-coding_transcript_variant
PINK1chr120975618TGsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120975662GAsingle_nucleotide_variantBenignParkinson_disease_6,_autosomal_recessive_early-onset|not_specified|not_providedSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120975710CTsingle_nucleotide_variantPathogenicParkinson_disease_6,_autosomal_recessive_early-onset|not_providedSO:0001587|nonsense,SO:0001619|non-coding_transcript_variantSO:0001587|nonsense,SO:0001619|non-coding_transcript_variant
PINK1chr120975717CTsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityParkinson_disease_6,_autosomal_recessive_early-onset|not_providedSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120975724GAsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variantSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant
PINK1chr120975725GAsingle_nucleotide_variantPathogenicParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001575|splice_donor_variant,SO:0001619|non-coding_transcript_variantSO:0001575|splice_donor_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120976020GAsingle_nucleotide_variantBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001627|intron_variantSO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant
PINK1chr120976759CTsingle_nucleotide_variantBenignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001627|intron_variantSO:0001619|non-coding_transcript_variant,SO:0001627|intron_variant
PINK1chr120976940GAsingle_nucleotide_variantBenign/Likely_benignParkinson_disease_6,_autosomal_recessive_early-onset|not_providedSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120976968CTsingle_nucleotide_variantLikely_benignParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variantSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant
PINK1chr120976987CTsingle_nucleotide_variantLikely_benignParkinson_disease_6,_autosomal_recessive_early-onset|not_providedSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variantSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant
PINK1chr120977005AAAGTTDuplicationPathogenicParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variantSO:0001589|frameshift_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120977011GAsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120977016GCsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120977018TCsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120977034CCCAAMicrosatellitePathogenicParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001619|non-coding_transcript_variant,SO:0001821|inframe_insertionSO:0001619|non-coding_transcript_variant,SO:0001821|inframe_insertion
PINK1chr120977043GAsingle_nucleotide_variantLikely_benignnot_providedSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variantSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant
PINK1chr120977136GAsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityParkinson_disease_6,_autosomal_recessive_early-onset|not_providedSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variantSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant
PINK1chr120977157CGsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variantSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant
PINK1chr120977166AGsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityParkinson_disease_6,_autosomal_recessive_early-onset|not_providedSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variantSO:0001619|non-coding_transcript_variant,SO:0001819|synonymous_variant
PINK1chr120977167TCsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variantSO:0001583|missense_variant,SO:0001619|non-coding_transcript_variant
PINK1chr120977202GAsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant
PINK1chr120977224GAsingle_nucleotide_variantBenign/Likely_benignParkinson_disease_6,_autosomal_recessive_early-onset|not_providedSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant
PINK1chr120977248GAsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant
PINK1chr120977297GAsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant
PINK1chr120977305GAsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant
PINK1chr120977447CAsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant
PINK1chr120977524CTsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant
PINK1chr120977533GCsingle_nucleotide_variantLikely_benignParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant
PINK1chr120977536GAsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant
PINK1chr120977538AGCADeletionUncertain_significanceParkinson_Disease,_RecessiveSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant
PINK1chr120977694GAsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant
PINK1chr120977703GAsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant
PINK1chr120977710CCAGTAMicrosatelliteUncertain_significanceParkinson_Disease,_RecessiveSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant
PINK1chr120977716GAsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityParkinson_disease_6,_autosomal_recessive_early-onset|Parkinson_Disease,_RecessiveSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant
PINK1chr120977718AGsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant
PINK1chr120977726GAsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant
PINK1chr120977753TCTDeletionUncertain_significanceParkinson_Disease,_RecessiveSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant
PINK1chr120977755CTsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant
PINK1chr120977763CTsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant
PINK1chr120977770TCsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant
PINK1chr120977797AGsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant
PINK1chr120977839TCsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant
PINK1chr120977886GAsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant
PINK1chr120977991TCsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant
PINK1chr120978001CAsingle_nucleotide_variantUncertain_significanceParkinson_disease_6,_autosomal_recessive_early-onsetSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variantSO:0001619|non-coding_transcript_variant,SO:0001624|3_prime_UTR_variant


check button nsSNVs with sample frequency (size of circle) from TCGA 33 cancers.
all structure


check button SNVs and Indels
GeneCancer typeChromosomeStartEndRefSeeqMutSeqMutation typeAAchange# samples
PINK1ESCAchr12097707620977076GTMissense_Mutationp.E546D5
PINK1ESCAchr12097509920975099GAMissense_Mutationp.G409R4
PINK1ESCAchr12097694820976948GAMissense_Mutationp.A504T4
PINK1PAADchr12096441820964418GCSilentp.L157L3
PINK1BRCAchr12096447120964471TCMissense_Mutationp.M175T3
PINK1BRCAchr12097705320977053TGMissense_Mutationp.L539V3
PINK1HNSCchr12097504820975048GAMissense_Mutationp.E392K3
PINK1UCECchr12097509320975093CTMissense_Mutationp.R407W3
PINK1PAADchr12096441820964418GCSilent2
PINK1SKCMchr12097213420972134GTSilentp.L347L2
PINK1THCAchr12097501920975019TCMissense_Mutationp.I382T2
PINK1STADchr12097709420977094A-Frame_Shift_Delp.T552fs2
PINK1ESCAchr12097707620977076GTMissense_Mutation2
PINK1STADchr12096447820964478AGSilentp.T177T2
PINK1CESCchr12097211120972111GAMissense_Mutation2
PINK1HNSCchr12097103220971032CTMissense_Mutationp.R276W2
PINK1STADchr12097111220971112CTSilentp.R302R2
PINK1CESCchr12096640020966400GAMissense_Mutation2
PINK1HNSCchr12097710520977105TAMissense_Mutationp.M556K2
PINK1UCECchr12096448720964487GASilentp.Q1802
PINK1ESCAchr12097694820976948GAMissense_Mutation2
PINK1STADchr12097699020976990GAMissense_Mutationp.A518T2
PINK1UCECchr12097111120971111GAMissense_Mutationp.R302H2
PINK1SARCchr12097716220977162GTMissense_Mutation2
PINK1ESCAchr12097509920975099GAMissense_Mutation2
PINK1STADchr12097550120975501GAMissense_Mutationp.R422H2
PINK1UCECchr12097508020975080CTSilentp.S4022
PINK1SKCMchr12096458620964586CTSilentp.A213A2
PINK1STADchr12097502520975025AGMissense_Mutationp.D384G2
PINK1UCECchr12097557420975574CASilentp.I4462
PINK1SKCMchr12096437220964372CTMissense_Mutationp.P142L2
PINK1UCECchr12097557720975577CTSilentp.F4472
PINK1ESCAchr12097571120975711GAMissense_Mutationp.R492Q2
PINK1SKCMchr12096437120964371CTMissense_Mutationp.P142S2
PINK1BLCAchr12097208620972086GASilentp.V331V2
PINK1UCECchr12097571620975716GAMissense_Mutationp.A494T2
PINK1SKCMchr12096031620960316GAMissense_Mutationp.C92Y2
PINK1COADchr12096436120964361GASilentp.P138P1
PINK1LIHCchr12097114020971140CTMissense_Mutationp.R312W1
PINK1BLCAchr12097213420972134G-Frame_Shift_Delp.L347fs1
PINK1HNSCchr12097710520977105TAMissense_Mutation1
PINK1THCAchr12097501920975019TCMissense_Mutation1
PINK1COADchr12097101520971015CAMissense_Mutationp.P270H1
PINK1LIHCchr12097560620975606GAMissense_Mutationp.G457D1
PINK1ESCAchr12096457820964578GTMissense_Mutationp.A211S1
PINK1STADchr12097709420977094A-Frame_Shift_Del1
PINK1HNSCchr12097116020971162GAA-In_Frame_Del1
PINK1COADchr12097210320972103GAMissense_Mutationp.R337H1
PINK1LIHCchr12097098320970983A-Splice_Sitep.R259_splice1
PINK1ESCAchr12096457820964578GTMissense_Mutation1
PINK1PAADchr12097559620975596TGMissense_Mutationp.Y454D1
PINK1COADchr12097512020975120CAMissense_Mutationp.P416T1
PINK1LUADchr12096440220964402GAMissense_Mutationp.R152Q1
PINK1PRADchr12096458220964582CAMissense_Mutationp.P212H1
PINK1UCECchr12097105820971058CTSilentp.S284S1
PINK1COADchr12097713520977135CTMissense_Mutationp.T566M1
PINK1LUADchr12096459920964599ACMissense_Mutationp.I218L1
PINK1ESCAchr12097571120975711GAMissense_Mutation1
PINK1READchr12097704620977046CTSilentp.A536A1
PINK1DLBCchr12097504720975047TCSilentp.D391D1
PINK1LUSCchr12097099220970992GASilentp.K262K1
PINK1CESCchr12097700020977000ACMissense_Mutation1
PINK1HNSCchr12097116020971162GAA-In_Frame_Delp.MK318del1
PINK1DLBCchr12097115820971158ATMissense_Mutationp.M318L1
PINK1LUSCchr12097699820976998GASilentp.K520K1
PINK1CESCchr12097719720977197GARNANULL1
PINK1KIRPchr12097512120975121CAMissense_Mutation1
PINK1MESOchr12097704220977042CTMissense_Mutation1
PINK1DLBCchr12097564420975644CTNonsense_Mutationp.Q470X1
PINK1BLCAchr12097208620972086GASilent1
PINK1GBMchr12097106220971062CTMissense_Mutation1
PINK1CESCchr12097720520977205GARNANULL1
PINK1LGGchr12096452420964524GTMissense_Mutationp.G193W1
PINK1MESOchr12097704220977042CTMissense_Mutationp.S535L1
PINK1BLCAchr12096642620966426GTMissense_Mutationp.Q239H1
PINK1GBMchr12097509320975093CTMissense_Mutation1
PINK1STADchr12097110620971106CASilentp.P300P1
PINK1CESCchr12096640020966400GAMissense_Mutationp.E231K1
PINK1LGGchr12096452420964524GTMissense_Mutation1
PINK1OVchr12097568020975680GAMissense_Mutationp.V482M1
PINK1GBMchr12097111020971110CTMissense_Mutation1
PINK1STADchr12096456420964564ACMissense_Mutationp.E206A1
PINK1COADchr12096023020960230CTSilentp.L63L1
PINK1LIHCchr12096446920964469CTSilent1
PINK1OVchr12084372720843727CASilentp.R3121
PINK1BLCAchr12096036520960365G-Frame_Shift_Delp.L108fs1
PINK1HNSCchr12097103220971032CTMissense_Mutation1
PINK1STADchr12097111020971110CTMissense_Mutationp.R302C1

check buttonCopy number variation (CNV) of PINK1
* Click on the image to open the original image in a new window.
all structure

check buttonFusion gene breakpoints (product of the structural variants (SVs)) across PINK1
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


check button Fusion genes with this translation factor from FusionGDB2.0.
FusionGDB2 IDDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
65459STADTCGA-VQ-A8DV-01AHP1BP3chr121103090-PINK1chr120970983+
65459N/ACD723935LACRTchr1255026094-PINK1chr120964531+
65460N/AAA449854PINK1chr120974731-PINK1chr120976010-
65460N/ACV340510PINK1chr120966396+PINK1chr120965323+
65460N/AT08564PINK1chr120966460-PINK1chr120964579+
101750N/ABI496694PINK1chr120977810+SCAPERchr1576785230-


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Prognostic Analysis


check button Kaplan-Meier plots with logrank tests of overall survival (OS)
all structure
Cancer typeTranslation factorCoefficentHazard ratioWald test pvalLikelihool ratio pvalLogrank test pval# samples


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Translation factor and Gender


check button Differential gene expression between female and male. (Wilcoxon test, pval<0.05)
all structure
Cancer typeTranslation factorpvaladj.p
HNSCPINK10.0002490204465736690.007
LUSCPINK10.003700455091703370.1
LUADPINK10.00392412402386180.1
LAMLPINK10.02593917142355170.65
SARCPINK10.0288284957094190.69
READPINK10.03450621334183250.79

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Translation factor and Age


check button Differential gene expression between young and old age groups (Wilcoxon test, pval<0.05)
all structure
Cancer typeTranslation factorpvaladj.p
LIHCPINK10.0005166960139867180.016
THCAPINK11.01611564649799e-050.00034
KIRPPINK10.001867863852702780.056
LGGPINK10.0004279396630034190.014
ESCAPINK10.01511793951604410.44
THYMPINK10.0429314680525641
SARCPINK10.02064211516194690.58

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Related Drugs


check button Drugs targeting genes involved in this translation factor.
(DrugBank Version 5.1.8 2021-05-08)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases


check button Diseases associated with this translation factor.
(DisGeNet 4.0)
Disease IDDisease Name# PubMedsDisease source
C1853833Parkinson Disease 6, Autosomal Recessive Early-Onset27CTD_human;GENOMICS_ENGLAND;UNIPROT
C0242423Ramsay Hunt Paralysis Syndrome6CTD_human
C0752097Autosomal Dominant Juvenile Parkinson Disease6CTD_human
C0752098Autosomal Dominant Parkinsonism6CTD_human
C0752100Autosomal Recessive Parkinsonism6CTD_human
C0752101Parkinsonism, Experimental6CTD_human
C0752104Familial Juvenile Parkinsonism6CTD_human
C0752105Parkinsonism, Juvenile6CTD_human
C1868675PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE6CTD_human
C0030567Parkinson Disease5CTD_human
C0036341Schizophrenia3PSYGENET
C0027819Neuroblastoma1CTD_human
C0041696Unipolar Depression1PSYGENET
C1269683Major Depressive Disorder1PSYGENET