PLN (phospholamban) - Rat Genome Database

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Gene: PLN (phospholamban) Homo sapiens
Analyze
Symbol: PLN
Name: phospholamban
RGD ID: 1349244
HGNC Page HGNC:9080
Description: Enables ATPase inhibitor activity. Involved in negative regulation of ATPase-coupled calcium transmembrane transporter activity; negative regulation of calcium ion binding activity; and negative regulation of heart rate. Located in membrane. Part of calcium ion-transporting ATPase complex. Implicated in dilated cardiomyopathy 1P and hypertrophic cardiomyopathy 18.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cardiac phospholamban; CMD1P; CMH18; PLB
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386118,548,296 - 118,561,716 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl6118,548,296 - 118,561,716 (+)EnsemblGRCh38hg38GRCh38
GRCh376118,869,459 - 118,882,879 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366118,976,165 - 118,988,280 (+)NCBINCBI36Build 36hg18NCBI36
Build 346118,976,164 - 118,988,279NCBI
Celera6119,612,768 - 119,624,905 (+)NCBICelera
Cytogenetic Map6q22.31NCBI
HuRef6116,451,106 - 116,463,257 (+)NCBIHuRef
CHM1_16119,133,487 - 119,145,628 (+)NCBICHM1_1
T2T-CHM13v2.06119,733,450 - 119,746,868 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aconitine  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
anthracen-2-amine  (ISO)
arotinoid acid  (EXP)
astragaloside IV  (ISO)
benzo[a]pyrene  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
cadmium atom  (EXP)
candesartan  (ISO)
CHIR 99021  (EXP)
cilostazol  (ISO)
cisplatin  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
cortisol  (EXP)
Cuprizon  (ISO)
cycloheximide  (EXP)
decabromodiphenyl ether  (ISO)
dibromine  (ISO)
dibutyl phthalate  (ISO)
diethyldithiocarbamic acid  (ISO)
dioxygen  (ISO)
diuron  (ISO)
dobutamine  (EXP)
doxorubicin  (EXP,ISO)
Echimidine  (ISO)
endosulfan  (ISO)
ethanol  (ISO)
ferrostatin-1  (ISO)
flavonoids  (ISO)
Heliotrine  (ISO)
isoprenaline  (ISO)
L-ascorbic acid  (EXP)
L-ascorbic acid 2-phosphate  (EXP)
lead diacetate  (ISO)
lidocaine  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP,ISO)
mercury dichloride  (ISO)
methapyrilene  (ISO)
methotrexate  (ISO)
mifepristone  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
nickel atom  (EXP)
nitrofen  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
paraquat  (ISO)
PCB138  (ISO)
pioglitazone  (ISO)
progesterone  (ISO)
propofol  (ISO)
propranolol  (ISO)
resveratrol  (ISO)
sarpogrelate  (ISO)
SB 431542  (EXP)
senecionine  (ISO)
streptozocin  (ISO)
sulforaphane  (ISO)
tamoxifen  (ISO)
tebuconazole  (ISO)
thioacetamide  (ISO)
Tiron  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (EXP,ISO)
triclosan  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
wortmannin  (ISO)
XAV939  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
acrosome assembly  (IEA,ISS)
adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process  (IEA,ISO)
blood circulation  (NAS)
calcium ion transport  (ISO)
cardiac muscle tissue development  (IEA,ISO)
intracellular calcium ion homeostasis  (IEA,ISO,ISS)
muscle cell cellular homeostasis  (IEA,ISO)
negative regulation of ATP-dependent activity  (IDA,ISS)
negative regulation of ATPase-coupled calcium transmembrane transporter activity  (IBA,IDA,IEA,ISO)
negative regulation of calcium ion binding  (IDA,IEA,ISO,ISS)
negative regulation of calcium ion import  (ISS)
negative regulation of calcium ion import into sarcoplasmic reticulum  (IBA,IEA,ISS)
negative regulation of calcium ion transmembrane transporter activity  (IDA,ISS)
negative regulation of calcium ion transport  (IDA)
negative regulation of catalytic activity  (ISS)
negative regulation of heart contraction  (IEA)
negative regulation of heart contraction  (ISO)
negative regulation of heart rate  (IBA,IMP)
Notch signaling pathway  (IEA,ISO)
regulation of ATPase-coupled calcium transmembrane transporter activity  (IDA,IEA)
regulation of calcium ion import  (IEA,ISO)
regulation of calcium ion transport  (IDA,IEA,ISS)
regulation of cardiac muscle cell contraction  (IC,IEA,ISO)
regulation of cardiac muscle cell membrane potential  (IC)
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  (IEA,ISO)
regulation of cytosolic calcium ion concentration  (IC)
regulation of heart contraction  (IEA,IMP)
regulation of heart contraction  (IMP,ISO)
regulation of relaxation of cardiac muscle  (IC)
regulation of relaxation of muscle  (IEA,ISO)
regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum  (IEA,ISO)
regulation of ryanodine-sensitive calcium-release channel activity  (IEA,ISO)
regulation of the force of heart contraction  (IC,IEA,ISO)
regulation of the force of heart contraction by cardiac conduction  (IEA,ISO)
relaxation of cardiac muscle  (TAS)
response to insulin  (ISO)
response to testosterone  (ISO)
response to zinc ion  (ISO)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
acebutolol pharmacodynamics pathway  (EXP)
adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway  (EXP)
amiodarone pharmacodynamics pathway  (EXP)
amlodipine pharmacodynamics pathway  (EXP)
atenolol pharmacodynamics pathway  (EXP)
betaxolol pharmacodynamics pathway  (EXP)
bisoprolol pharmacodynamics pathway  (EXP)
bupranolol drug pathway  (EXP)
bupranolol pharmacodynamics pathway  (EXP)
calcium/calmodulin dependent kinase 2 signaling pathway  (TAS)
carvedilol pharmacodynamics pathway  (EXP)
dilated cardiomyopathy pathway  (IEA)
diltiazem pharmacodynamics pathway  (EXP)
disopyramide pharmacodynamics pathway  (EXP)
dobutamine pharmacodynamics pathway  (EXP)
esmolol pharmacodynamics pathway  (EXP)
flecainde pharmacodynamics pathway  (EXP)
fosphenytoin pharmacodynamics pathway  (EXP)
ibutilide pharmacodynamics pathway  (EXP)
isoprenaline pharmacodynamics pathway  (EXP)
isradipine pharmacodynamics pathway  (EXP)
levobunolol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
metoprolol pharmacodynamics pathway  (EXP)
mexiletine pharmacodynamics pathway  (EXP)
nadolol pharmacodynamics pathway  (EXP)
nebivolol pharmacodynamics pathway  (EXP)
nifedipine pharmacodynamics pathway  (EXP)
nimodipine pharmacodynamics pathway  (EXP)
nisoldipine pharmacodynamics pathway  (EXP)
nitrendipine pharmacodynamics pathway  (EXP)
penbutolol pharmacodynamics pathway  (EXP)
phenytoin pharmacodynamics pathway  (EXP)
pindolol pharmacodynamics pathway  (EXP)
procainamide pharmacodynamics pathway  (EXP)
propranolol pharmacodynamics pathway  (EXP)
quinidine pharmacodynamics pathway  (EXP)
sotalol pharmacodynamics pathway  (EXP)
timolol pharmacodynamics pathway  (EXP)
verapamil pharmacodynamics pathway  (EXP)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Reversal of subcellular remodelling by losartan in heart failure due to myocardial infarction. Babick A, etal., J Cell Mol Med. 2012 Dec;16(12):2958-67. doi: 10.1111/j.1582-4934.2012.01623.x.
2. Luteolin inhibits apoptosis and improves cardiomyocyte contractile function through the PI3K/Akt pathway in simulated ischemia/reperfusion. Fang F, etal., Pharmacology. 2011;88(3-4):149-58. doi: 10.1159/000330068. Epub 2011 Sep 16.
3. [Diaphragm dysfunction and expressions of calcium regulatory proteins in diabetic rats]. Fang Y, etal., Nan Fang Yi Ke Da Xue Xue Bao. 2013 Feb;33(2):177-81.
4. Increased myocardial SERCA expression in early type 2 diabetes mellitus is insulin dependent: In vivo and in vitro data. Fredersdorf S, etal., Cardiovasc Diabetol. 2012 May 23;11:57.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. Haghighi K, etal., Proc Natl Acad Sci U S A. 2006 Jan 31;103(5):1388-93. Epub 2006 Jan 23.
7. Abnormal amounts of intracellular calcium regulatory proteins in SHRSP.Z-Lepr(fa)/IzmDmcr rats with metabolic syndrome and cardiac dysfunction. Kagota S, etal., Can J Physiol Pharmacol. 2013 Feb;91(2):124-33. doi: 10.1139/cjpp-2012-0226. Epub 2013 Feb 15.
8. Combined insulin treatment and intense exercise training improved basal cardiac function and Ca(2+)-cycling proteins expression in type 1 diabetic rats. Le Douairon Lahaye S, etal., Appl Physiol Nutr Metab. 2012 Feb;37(1):53-62. doi: 10.1139/h11-127. Epub 2011 Dec 20.
9. Abnormal intracellular calcium homeostasis in sympathetic neurons from young prehypertensive rats. Li D, etal., Hypertension. 2012 Mar;59(3):642-9. doi: 10.1161/HYPERTENSIONAHA.111.186460. Epub 2012 Jan 17.
10. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
11. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
12. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
13. Rosuvastatin-attenuated heart failure in aged spontaneously hypertensive rats via PKCalpha/beta2 signal pathway. Qiu Z, etal., J Cell Mol Med. 2012 Dec;16(12):3052-61. doi: 10.1111/j.1582-4934.2012.01632.x.
14. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
16. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
17. New therapeutic targets in cardiology: arrhythmias and Ca2+/calmodulin-dependent kinase II (CaMKII). Rokita AG and Anderson ME, Circulation. 2012 Oct 23;126(17):2125-39. doi: 10.1161/CIRCULATIONAHA.112.124990.
18. Wenxin-Keli Regulates the Calcium/Calmodulin-Dependent Protein Kinase II Signal Transduction Pathway and Inhibits Cardiac Arrhythmia in Rats with Myocardial Infarction. Xing Y, etal., Evid Based Complement Alternat Med. 2013;2013:464508. doi: 10.1155/2013/464508. Epub 2013 May 28.
Additional References at PubMed
PMID:1828805   PMID:3759968   PMID:7586307   PMID:7749920   PMID:7779806   PMID:8406504   PMID:8862513   PMID:9345259   PMID:9468536   PMID:9512019   PMID:9845327   PMID:10096878  
PMID:10198197   PMID:10551848   PMID:10809745   PMID:11526231   PMID:11854448   PMID:12032137   PMID:12080135   PMID:12477932   PMID:12480535   PMID:12525698   PMID:12610310   PMID:12639993  
PMID:12692302   PMID:12705874   PMID:12804600   PMID:14530977   PMID:15342556   PMID:15489334   PMID:15598648   PMID:15640069   PMID:15736939   PMID:16043693   PMID:16235537   PMID:16382369  
PMID:16476846   PMID:16829191   PMID:17009399   PMID:17010801   PMID:17515962   PMID:17655857   PMID:17766390   PMID:17905829   PMID:18192322   PMID:18241046   PMID:18708665   PMID:19139388  
PMID:19305408   PMID:19305409   PMID:19324307   PMID:19584346   PMID:19587794   PMID:19638213   PMID:19671701   PMID:19708671   PMID:19875404   PMID:20301486   PMID:20301725   PMID:20474083  
PMID:20634894   PMID:20639392   PMID:20833797   PMID:21108950   PMID:21167350   PMID:21282613   PMID:21332051   PMID:21576492   PMID:21687864   PMID:21873635   PMID:21988832   PMID:22137083  
PMID:22155237   PMID:22172806   PMID:22247554   PMID:22427649   PMID:22679139   PMID:22820313   PMID:23166209   PMID:23308118   PMID:23349452   PMID:23871674   PMID:24037902   PMID:24358354  
PMID:24722188   PMID:24732829   PMID:24756636   PMID:24835503   PMID:24895160   PMID:24909667   PMID:24952745   PMID:25074938   PMID:25121716   PMID:25194792   PMID:25208486   PMID:25225809  
PMID:25251363   PMID:25416956   PMID:25451386   PMID:25461674   PMID:25504561   PMID:25562800   PMID:25563649   PMID:25593317   PMID:25637602   PMID:25676813   PMID:25691538   PMID:25730320  
PMID:25775607   PMID:25852082   PMID:25882845   PMID:25910212   PMID:25923014   PMID:25928149   PMID:25983321   PMID:26005176   PMID:26014576   PMID:26027516   PMID:26040000   PMID:26075818  
PMID:26292938   PMID:26535225   PMID:26542032   PMID:26643481   PMID:26673394   PMID:26743715   PMID:26791827   PMID:26800703   PMID:26816378   PMID:26885692   PMID:26917049   PMID:26966065  
PMID:26970417   PMID:27470516   PMID:27531746   PMID:28365402   PMID:28890335   PMID:29068413   PMID:29501609   PMID:29594859   PMID:29635323   PMID:29752948   PMID:30733280   PMID:30763825  
PMID:31046837   PMID:31515488   PMID:31551363   PMID:31751570   PMID:32296183   PMID:32755452   PMID:32911053   PMID:33019581   PMID:33401921   PMID:33438037   PMID:33928785   PMID:33998164  
PMID:34024116   PMID:34113975   PMID:34320358   PMID:34496741   PMID:34887420   PMID:34948294   PMID:35605666   PMID:35700631   PMID:35805951  


Genomics

Comparative Map Data
PLN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386118,548,296 - 118,561,716 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl6118,548,296 - 118,561,716 (+)EnsemblGRCh38hg38GRCh38
GRCh376118,869,459 - 118,882,879 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366118,976,165 - 118,988,280 (+)NCBINCBI36Build 36hg18NCBI36
Build 346118,976,164 - 118,988,279NCBI
Celera6119,612,768 - 119,624,905 (+)NCBICelera
Cytogenetic Map6q22.31NCBI
HuRef6116,451,106 - 116,463,257 (+)NCBIHuRef
CHM1_16119,133,487 - 119,145,628 (+)NCBICHM1_1
T2T-CHM13v2.06119,733,450 - 119,746,868 (+)NCBIT2T-CHM13v2.0
Pln
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391053,213,782 - 53,222,095 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1053,213,763 - 53,222,083 (+)EnsemblGRCm39 Ensembl
GRCm381053,337,686 - 53,345,999 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1053,337,667 - 53,345,987 (+)EnsemblGRCm38mm10GRCm38
MGSCv371053,057,492 - 53,065,805 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361053,026,122 - 53,034,396 (+)NCBIMGSCv36mm8
Celera1054,164,488 - 54,172,801 (+)NCBICelera
Cytogenetic Map10B3NCBI
Pln
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22032,629,537 - 32,639,559 (+)NCBImRatBN7.2mRatBN7.2
UTH_Rnor_SHR_Utx2033,643,487 - 33,653,241 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.02033,034,203 - 33,043,957 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.02033,768,368 - 33,778,120 (+)NCBIRnor_WKY
Rnor_6.02034,633,157 - 34,642,904 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2034,633,157 - 34,642,904 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02036,390,879 - 36,400,626 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42032,000,371 - 32,008,559 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12032,014,170 - 32,022,359 (+)NCBI
Celera2034,009,102 - 34,018,849 (+)NCBICelera
Cytogenetic Map20q11NCBI
Pln
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554361,439,098 - 1,447,070 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554361,439,098 - 1,447,070 (+)NCBIChiLan1.0ChiLan1.0
PLN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.16120,498,943 - 120,511,969 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6120,509,510 - 120,509,668 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v06116,357,335 - 116,370,382 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PLN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1158,579,095 - 58,590,541 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl158,579,145 - 58,590,535 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha159,381,980 - 59,393,371 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0158,763,549 - 58,775,010 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl158,763,595 - 58,775,006 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1158,664,392 - 58,675,778 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0158,505,736 - 58,517,122 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0159,137,737 - 59,149,128 (+)NCBIUU_Cfam_GSD_1.0
Pln
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946109,336,904 - 109,346,907 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366581,443,795 - 1,453,839 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049366581,443,626 - 1,453,770 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl143,449,354 - 43,458,925 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1143,449,354 - 43,458,925 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2148,678,936 - 48,688,510 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PLN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11355,316,962 - 55,332,502 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1355,318,326 - 55,318,481 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604027,627,687 - 27,641,160 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pln
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462479811,522,269 - 11,528,775 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462479811,522,245 - 11,528,741 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PLN
86 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002667.5(PLN):c.132_152dup (p.Ile45_Leu51dup) duplication Dilated cardiomyopathy 1P [RCV000550821]|not provided [RCV001575715] Chr6:118559048..118559049 [GRCh38]
Chr6:118880211..118880212 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.41G>T (p.Arg14Ile) single nucleotide variant Cardiovascular phenotype [RCV002330878]|Dilated cardiomyopathy 1P [RCV000551751] Chr6:118558962 [GRCh38]
Chr6:118880125 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_001042475.3(CEP85L):c.1020+17310T>C single nucleotide variant Dilated cardiomyopathy 1P [RCV001852000]|Hypertrophic cardiomyopathy 18 [RCV000022713] Chr6:118548219 [GRCh38]
Chr6:118869382 [GRCh37]
Chr6:6q22.31		 pathogenic|uncertain significance
PLN, -42C-G single nucleotide variant Familial hypertrophic cardiomyopathy 18 [RCV000022714] Chr6:6q22.1 pathogenic
PLN, -36A-C single nucleotide variant Dilated cardiomyopathy 1P [RCV000022715] Chr6:6q22.1 pathogenic
PLN, 3-BP DEL, 39AGA deletion Dilated cardiomyopathy 1P [RCV000014608] Chr6:6q22.1 pathogenic
NM_002667.5(PLN):c.25C>T (p.Arg9Cys) single nucleotide variant Cardiomyopathy [RCV000769213]|Dilated cardiomyopathy 1P [RCV000014606]|Primary dilated cardiomyopathy [RCV000211844]|not provided [RCV000183815] Chr6:118558946 [GRCh38]
Chr6:118880109 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) single nucleotide variant Cardiac arrest [RCV000157420]|Cardiomyopathy [RCV000770226]|Cardiovascular phenotype [RCV000621703]|Dilated cardiomyopathy 1P [RCV000014607]|Dilated cardiomyopathy 1P [RCV002467493]|Hypertrophic cardiomyopathy 18 [RCV000022712]|Hypertrophic cardiomyopathy [RCV000151666]|Primary dilated cardiomyopathy [RCV000171826]|Sudden cardiac death [RCV000157419]|not provided [RCV000523391] Chr6:118559037 [GRCh38]
Chr6:118880200 [GRCh37]
Chr6:6q22.31		 pathogenic|likely pathogenic
NM_001042475.3(CEP85L):c.1020+6445A>T single nucleotide variant not specified [RCV000037578] Chr6:118559084 [GRCh38]
Chr6:118880247 [GRCh37]
Chr6:6q22.31		 likely benign
NM_002667.5(PLN):c.152T>C (p.Leu51Pro) single nucleotide variant Dilated cardiomyopathy 1P [RCV002513479]|not specified [RCV000037579] Chr6:118559073 [GRCh38]
Chr6:118880236 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.27C>T (p.Arg9=) single nucleotide variant Cardiomyopathy [RCV000769214]|Cardiovascular phenotype [RCV000621419]|Dilated cardiomyopathy 1P [RCV000465487]|not provided [RCV001529611]|not specified [RCV000037580] Chr6:118558948 [GRCh38]
Chr6:118880111 [GRCh37]
Chr6:6q22.31		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) microsatellite Arrhythmogenic right ventricular dysplasia 9 [RCV000491072]|Cardiomyopathy [RCV000183818]|Cardiovascular phenotype [RCV000244830]|Dilated cardiomyopathy 1P [RCV000233546]|Hypertrophic cardiomyopathy 18 [RCV001197004]|Primary dilated cardiomyopathy [RCV000037582]|SUDDEN INFANT DEATH SYNDROME [RCV001787831]|not provided [RCV000212833] Chr6:118558957..118558959 [GRCh38]
Chr6:118880120..118880122 [GRCh37]
Chr6:6q22.31		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_002667.5(PLN):c.43G>A (p.Ala15Thr) single nucleotide variant Dilated cardiomyopathy 1P [RCV001852781]|not specified [RCV000037583] Chr6:118558964 [GRCh38]
Chr6:118880127 [GRCh37]
Chr6:6q22.31		 likely pathogenic|uncertain significance
NM_002667.5(PLN):c.61C>A (p.Pro21Thr) single nucleotide variant Dilated cardiomyopathy 1P [RCV001237789]|Dilated cardiomyopathy 1P [RCV002496596]|not provided [RCV000845566]|not specified [RCV000037584] Chr6:118558982 [GRCh38]
Chr6:118880145 [GRCh37]
Chr6:6q22.31		 uncertain significance
GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1 copy number loss See cases [RCV000051196] Chr6:108944899..132067720 [GRCh38]
Chr6:109266102..132388860 [GRCh37]
Chr6:109372795..132430553 [NCBI36]
Chr6:6q21-23.2		 pathogenic
GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1 copy number loss See cases [RCV000052196] Chr6:115601230..128514324 [GRCh38]
Chr6:115922394..128835469 [GRCh37]
Chr6:116029087..128877162 [NCBI36]
Chr6:6q22.1-22.33		 pathogenic
GRCh38/hg38 6q22.31(chr6:118229864-118723034)x3 copy number gain See cases [RCV000053370] Chr6:118229864..118723034 [GRCh38]
Chr6:118551027..119044197 [GRCh37]
Chr6:118657720..119150890 [NCBI36]
Chr6:6q22.31		 uncertain significance
GRCh38/hg38 6q22.31(chr6:118390687-118736132)x3 copy number gain See cases [RCV000053371] Chr6:118390687..118736132 [GRCh38]
Chr6:118711850..119057295 [GRCh37]
Chr6:118818543..119163988 [NCBI36]
Chr6:6q22.31		 uncertain significance
GRCh38/hg38 6q22.31(chr6:118509086-119604498)x3 copy number gain See cases [RCV000053372] Chr6:118509086..119604498 [GRCh38]
Chr6:118830249..119925663 [GRCh37]
Chr6:118936942..119967362 [NCBI36]
Chr6:6q22.31		 uncertain significance
GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3 copy number gain See cases [RCV000137726] Chr6:117607147..126699980 [GRCh38]
Chr6:117928310..127021125 [GRCh37]
Chr6:118035003..127062818 [NCBI36]
Chr6:6q22.1-22.32		 pathogenic
GRCh38/hg38 6q22.1-22.31(chr6:116815199-119718887)x1 copy number loss See cases [RCV000139944] Chr6:116815199..119718887 [GRCh38]
Chr6:117136362..120040041 [GRCh37]
Chr6:117243055..120081740 [NCBI36]
Chr6:6q22.1-22.31		 likely pathogenic
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1		 pathogenic
GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1 copy number loss See cases [RCV000139465] Chr6:96609994..122161548 [GRCh38]
Chr6:97057870..122482694 [GRCh37]
Chr6:97164591..122524393 [NCBI36]
Chr6:6q16.1-22.31		 pathogenic
GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1 copy number loss See cases [RCV000141587] Chr6:106503719..125781219 [GRCh38]
Chr6:106951594..126102365 [GRCh37]
Chr6:107058287..126144058 [NCBI36]
Chr6:6q21-22.31		 pathogenic
GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1 copy number loss See cases [RCV000143227] Chr6:100054889..120488154 [GRCh38]
Chr6:100502765..120809300 [GRCh37]
Chr6:100609486..120850999 [NCBI36]
Chr6:6q16.3-22.31		 pathogenic
NM_002667.5(PLN):c.2T>C (p.Met1Thr) single nucleotide variant not specified [RCV000151663] Chr6:118558923 [GRCh38]
Chr6:118880086 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.37dup (p.Arg13fs) duplication not specified [RCV000151664] Chr6:118558956..118558957 [GRCh38]
Chr6:118880119..118880120 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(117810940_117810996)_(119417693_119417749)del deletion Autistic behavior [RCV000157072] Chr6:117810996..119417693 [GRCh37]
Chr6:6q22.1-22.31		 pathogenic
NC_000006.11:g.(116681080_116735056)_(119687719_119775014)del deletion Delayed speech and language development [RCV000157076] Chr6:116735056..119687719 [GRCh37]
Chr6:6q22.1-22.31		 pathogenic
NM_002667.5(PLN):c.145G>A (p.Val49Met) single nucleotide variant Cardiomyopathy [RCV001798641]|Dilated cardiomyopathy 1P [RCV001309721]|Dilated cardiomyopathy 1P [RCV002485230]|not provided [RCV001704888] Chr6:118559066 [GRCh38]
Chr6:118880229 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_002667.5(PLN):c.26G>A (p.Arg9His) single nucleotide variant Cardiovascular phenotype [RCV002433818]|Dilated cardiomyopathy 1P [RCV001207506]|not provided [RCV001701633]|not specified [RCV000183816] Chr6:118558947 [GRCh38]
Chr6:118880110 [GRCh37]
Chr6:6q22.31		 pathogenic|likely pathogenic|uncertain significance
NM_002667.5(PLN):c.73C>G (p.Arg25Gly) single nucleotide variant Dilated cardiomyopathy 1P [RCV001852372]|not provided [RCV000183817] Chr6:118558994 [GRCh38]
Chr6:118880157 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.63_64dup (p.Gln22fs) duplication Cardiomyopathy [RCV000183819]|Cardiovascular phenotype [RCV002362944]|Dilated cardiomyopathy 1P [RCV001059490]|Hypertrophic cardiomyopathy [RCV000852566]|not specified [RCV000486215] Chr6:118558982..118558983 [GRCh38]
Chr6:118880145..118880146 [GRCh37]
Chr6:6q22.31		 pathogenic|likely pathogenic|uncertain significance
NM_002667.5(PLN):c.73C>T (p.Arg25Cys) single nucleotide variant Cardiovascular phenotype [RCV002381610]|Dilated cardiomyopathy 1P [RCV001378976]|Primary dilated cardiomyopathy [RCV001257942]|not provided [RCV000183820] Chr6:118558994 [GRCh38]
Chr6:118880157 [GRCh37]
Chr6:6q22.31		 likely pathogenic|uncertain significance
NM_002667.5(PLN):c.131T>C (p.Leu44Pro) single nucleotide variant Cardiovascular phenotype [RCV002381614]|Dilated cardiomyopathy 1P [RCV001852380]|Hypertrophic cardiomyopathy 18 [RCV000184030] Chr6:118559052 [GRCh38]
Chr6:118880215 [GRCh37]
Chr6:6q22.31		 likely pathogenic|uncertain significance
NM_002667.5(PLN):c.*89A>G single nucleotide variant Dilated cardiomyopathy 1P [RCV000264598] Chr6:118559169 [GRCh38]
Chr6:118880332 [GRCh37]
Chr6:6q22.31		 likely benign
NM_001042475.3(CEP85L):c.1020+17275G>C single nucleotide variant Dilated cardiomyopathy 1P [RCV000205657]|Dilated cardiomyopathy 1P [RCV002494536]|Hypertrophic cardiomyopathy 18 [RCV000022714] Chr6:118548254 [GRCh38]
Chr6:118869417 [GRCh37]
Chr6:6q22.31		 pathogenic|uncertain significance
NM_002667.5(PLN):c.14A>G (p.Gln5Arg) single nucleotide variant not specified [RCV000222681] Chr6:118558935 [GRCh38]
Chr6:118880098 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.67C>G (p.Gln23Glu) single nucleotide variant not specified [RCV000216465] Chr6:118558988 [GRCh38]
Chr6:118880151 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.34A>G (p.Ile12Val) single nucleotide variant Cardiomyopathy [RCV001170908]|Cardiovascular phenotype [RCV002450652]|Dilated cardiomyopathy 1P [RCV000229704]|not provided [RCV000214972] Chr6:118558955 [GRCh38]
Chr6:118880118 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.4(PLN):c.-97-?_*1344+?del deletion Dilated cardiomyopathy 1P [RCV000231744]   pathogenic
NM_002667.4(PLN):c.-97-?_*1344+?dup1600 duplication Dilated cardiomyopathy 1P [RCV000226850] Chr6:118558825..118560424 [GRCh38]
Chr6:118879988..118881587 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_001042475.3(CEP85L):c.1020+17280C>A single nucleotide variant Dilated cardiomyopathy 1P [RCV000226185]|not provided [RCV000998673] Chr6:118548249 [GRCh38]
Chr6:118869412 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_001042475.3(CEP85L):c.1020+5206G>A single nucleotide variant Dilated cardiomyopathy 1P [RCV000393417]|Dilated cardiomyopathy 1P [RCV002487555]|not provided [RCV001723957] Chr6:118560323 [GRCh38]
Chr6:118881486 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
GRCh37/hg19 6q22.31(chr6:118787404-119016296)x4 copy number gain See cases [RCV000240362] Chr6:118787404..119016296 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_001042475.3(CEP85L):c.1020+17181A>T single nucleotide variant Dilated Cardiomyopathy, Dominant [RCV000352591]|Dilated cardiomyopathy 1P [RCV002502372]|Hypertrophic cardiomyopathy [RCV000390348] Chr6:118548348 [GRCh38]
Chr6:118869511 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.*1180A>G single nucleotide variant Dilated cardiomyopathy 1P [RCV000384994] Chr6:118560260 [GRCh38]
Chr6:118881423 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.-97-5T>C single nucleotide variant Dilated cardiomyopathy 1P [RCV000272845]|not provided [RCV001764320] Chr6:118558820 [GRCh38]
Chr6:118879983 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_001042475.3(CEP85L):c.1020+17159G>A single nucleotide variant Dilated cardiomyopathy 1P [RCV000308484]|Dilated cardiomyopathy 1P [RCV002488788] Chr6:118548370 [GRCh38]
Chr6:118869533 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_001042475.3(CEP85L):c.1020+6034A>G single nucleotide variant Dilated cardiomyopathy 1P [RCV000295748]|Dilated cardiomyopathy 1P [RCV002487552] Chr6:118559495 [GRCh38]
Chr6:118880658 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.*250T>C single nucleotide variant Dilated cardiomyopathy 1P [RCV000280631] Chr6:118559330 [GRCh38]
Chr6:118880493 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.-150G>A single nucleotide variant Dilated cardiomyopathy 1P [RCV000312021]|not provided [RCV001672670] Chr6:118548340 [GRCh38]
Chr6:118869503 [GRCh37]
Chr6:6q22.31		 benign|likely benign
NM_002667.5(PLN):c.*397T>G single nucleotide variant Dilated cardiomyopathy 1P [RCV000385448] Chr6:118559477 [GRCh38]
Chr6:118880640 [GRCh37]
Chr6:6q22.31		 benign|likely benign
NM_002667.5(PLN):c.*1070T>A single nucleotide variant Dilated cardiomyopathy 1P [RCV000318589] Chr6:118560150 [GRCh38]
Chr6:118881313 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_001042475.3(CEP85L):c.1020+5558G>A single nucleotide variant Dilated cardiomyopathy 1P [RCV000354543]|Dilated cardiomyopathy 1P [RCV002502373] Chr6:118559971 [GRCh38]
Chr6:118881134 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_001042475.3(CEP85L):c.1020+6250A>T single nucleotide variant Dilated Cardiomyopathy, Dominant [RCV000261181]|Hypertrophic cardiomyopathy [RCV000316452] Chr6:118559279 [GRCh38]
Chr6:118880442 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_001042475.3(CEP85L):c.1020+5314G>A single nucleotide variant Dilated cardiomyopathy 1P [RCV000274039]|Dilated cardiomyopathy 1P [RCV002487553] Chr6:118560215 [GRCh38]
Chr6:118881378 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.*840_*841del deletion Dilated Cardiomyopathy, Dominant [RCV000303255] Chr6:118559919..118559920 [GRCh38]
Chr6:118881082..118881083 [GRCh37]
Chr6:6q22.31		 likely benign
NM_002667.5(PLN):c.*877T>C single nucleotide variant Dilated cardiomyopathy 1P [RCV000304417] Chr6:118559957 [GRCh38]
Chr6:118881120 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.*581C>T single nucleotide variant Dilated cardiomyopathy 1P [RCV000347568] Chr6:118559661 [GRCh38]
Chr6:118880824 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_001042475.3(CEP85L):c.1020+6013_1020+6015del deletion Dilated Cardiomyopathy, Dominant [RCV000400268]|Hypertrophic cardiomyopathy [RCV000287526] Chr6:118559514..118559516 [GRCh38]
Chr6:118880677..118880679 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.*90G>A single nucleotide variant Dilated cardiomyopathy 1P [RCV000324565] Chr6:118559170 [GRCh38]
Chr6:118880333 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.*1172T>C single nucleotide variant Dilated cardiomyopathy 1P [RCV000388373] Chr6:118560252 [GRCh38]
Chr6:118881415 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_001042475.3(CEP85L):c.1020+5224G>A single nucleotide variant Dilated cardiomyopathy 1P [RCV000290070]|Dilated cardiomyopathy 1P [RCV002487554] Chr6:118560305 [GRCh38]
Chr6:118881468 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_001042475.3(CEP85L):c.1020+6611A>T single nucleotide variant Cardiovascular phenotype [RCV000617775] Chr6:118558918 [GRCh38]
Chr6:118880081 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.*1199T>C single nucleotide variant Dilated cardiomyopathy 1P [RCV001151764] Chr6:118560279 [GRCh38]
Chr6:118881442 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.113T>C (p.Ile38Thr) single nucleotide variant Dilated cardiomyopathy 1P [RCV000639860] Chr6:118559034 [GRCh38]
Chr6:118880197 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.29C>T (p.Ser10Leu) single nucleotide variant Dilated cardiomyopathy 1P [RCV000539278] Chr6:118558950 [GRCh38]
Chr6:118880113 [GRCh37]
Chr6:6q22.31		 uncertain significance
GRCh37/hg19 6q22.31(chr6:118767972-119044197)x3 copy number gain not specified [RCV000451178] Chr6:118767972..119044197 [GRCh37]
Chr6:6q22.31		 uncertain significance
GRCh37/hg19 6q22.2-22.31(chr6:118490533-119281981)x3 copy number gain See cases [RCV000449282] Chr6:118490533..119281981 [GRCh37]
Chr6:6q22.2-22.31		 uncertain significance
GRCh37/hg19 6q22.31(chr6:118787404-119016237)x3 copy number gain See cases [RCV000446973] Chr6:118787404..119016237 [GRCh37]
Chr6:6q22.31		 benign
NM_002667.5(PLN):c.-14G>A single nucleotide variant not specified [RCV000438695] Chr6:118558908 [GRCh38]
Chr6:118880071 [GRCh37]
Chr6:6q22.31		 likely benign
NM_002667.5(PLN):c.-40C>T single nucleotide variant not specified [RCV000435738] Chr6:118558882 [GRCh38]
Chr6:118880045 [GRCh37]
Chr6:6q22.31		 likely benign
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 copy number loss See cases [RCV000445666] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31		 pathogenic
NM_002667.5(PLN):c.*17C>G single nucleotide variant not specified [RCV000433383] Chr6:118559097 [GRCh38]
Chr6:118880260 [GRCh37]
Chr6:6q22.31		 likely benign
NM_002667.5(PLN):c.-98+17G>A single nucleotide variant not specified [RCV000440363] Chr6:118548409 [GRCh38]
Chr6:118869572 [GRCh37]
Chr6:6q22.31		 likely benign
GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1 copy number loss 6q21-6q22.1 deletion [RCV000416567] Chr6:112069445..120994664 [GRCh37]
Chr6:6q21-22.31		 likely pathogenic
GRCh37/hg19 6q22.31(chr6:118723496-119070814)x3 copy number gain See cases [RCV000448267] Chr6:118723496..119070814 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.22A>C (p.Thr8Pro) single nucleotide variant Dilated cardiomyopathy 1P [RCV000466823] Chr6:118558943 [GRCh38]
Chr6:118880106 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.74G>A (p.Arg25His) single nucleotide variant Cardiovascular phenotype [RCV002393144]|Dilated cardiomyopathy 1P [RCV000460010]|not provided [RCV000786193] Chr6:118558995 [GRCh38]
Chr6:118880158 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_001042475.3(CEP85L):c.1020+17269T>G single nucleotide variant Dilated cardiomyopathy 1P [RCV001516345]|Lissencephaly 10 [RCV001803752]|not provided [RCV001637028]|not specified [RCV000454553] Chr6:118548260 [GRCh38]
Chr6:118869423 [GRCh37]
Chr6:6q22.31		 benign
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_002667.5(PLN):c.143_158delinsGC (p.Ile48fs) indel not provided [RCV000481635] Chr6:118559064..118559079 [GRCh38]
Chr6:118880227..118880242 [GRCh37]
Chr6:6q22.31		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NC_000006.11:g.(?_118869382)_(118880263_?)dup duplication Dilated cardiomyopathy 1P [RCV000533816] Chr6:118548219..118559100 [GRCh38]
Chr6:118869382..118880263 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_001042475.3(CEP85L):c.1020+6713T>C single nucleotide variant not provided [RCV001812314] Chr6:118558816 [GRCh38]
Chr6:118879979 [GRCh37]
Chr6:6q22.31		 likely benign
NM_002667.5(PLN):c.27C>A (p.Arg9=) single nucleotide variant not specified [RCV000612478] Chr6:118558948 [GRCh38]
Chr6:118880111 [GRCh37]
Chr6:6q22.31		 likely benign
GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626432] Chr6:112939290..132327952 [GRCh37]
Chr6:6q21-23.2		 drug response
GRCh37/hg19 6q22.31(chr6:118605441-119145799)x3 copy number gain not provided [RCV000682715] Chr6:118605441..119145799 [GRCh37]
Chr6:6q22.31		 uncertain significance
GRCh37/hg19 6q22.31(chr6:118735778-119146017)x3 copy number gain not provided [RCV000682716] Chr6:118735778..119146017 [GRCh37]
Chr6:6q22.31		 uncertain significance
Single allele duplication Ebstein anomaly [RCV000677104] Chr6:118823423..118880554 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.53T>C (p.Ile18Thr) single nucleotide variant Cardiomyopathy [RCV001798961]|Cardiovascular phenotype [RCV002343489]|Dilated cardiomyopathy 1P [RCV000695526]|Dilated cardiomyopathy 1P [RCV002485687]|Hypertrophic cardiomyopathy [RCV000999597] Chr6:118558974 [GRCh38]
Chr6:118880137 [GRCh37]
Chr6:6q22.31		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_002667.5(PLN):c.-97-198AC[18] microsatellite not provided [RCV001689464] Chr6:118558626..118558627 [GRCh38]
Chr6:118879789..118879790 [GRCh37]
Chr6:6q22.31		 benign
NM_002667.5(PLN):c.-97-161G>C single nucleotide variant not provided [RCV001613543] Chr6:118558664 [GRCh38]
Chr6:118879827 [GRCh37]
Chr6:6q22.31		 benign
NM_002667.5(PLN):c.144C>T (p.Ile48=) single nucleotide variant Dilated cardiomyopathy 1P [RCV000868990]|not provided [RCV001593085] Chr6:118559065 [GRCh38]
Chr6:118880228 [GRCh37]
Chr6:6q22.31		 likely benign
NC_000006.12:g.(?_118548061)_(118559090_?)del deletion Dilated cardiomyopathy 1P [RCV000814611] Chr6:118548061..118559090 [GRCh38]
Chr6:118869224..118880253 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_002667.5(PLN):c.148A>C (p.Met50Leu) single nucleotide variant Cardiomyopathy [RCV000770227] Chr6:118559069 [GRCh38]
Chr6:118880232 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.36A>G (p.Ile12Met) single nucleotide variant Cardiomyopathy [RCV000769215]|Dilated cardiomyopathy 1P [RCV001214646] Chr6:118558957 [GRCh38]
Chr6:118880120 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.-98+15T>A single nucleotide variant not provided [RCV000842326] Chr6:118548407 [GRCh38]
Chr6:118869570 [GRCh37]
Chr6:6q22.31		 likely benign
NM_002667.5(PLN):c.-97-53T>A single nucleotide variant not provided [RCV000834683] Chr6:118558772 [GRCh38]
Chr6:118879935 [GRCh37]
Chr6:6q22.31		 likely benign
NM_002667.5(PLN):c.-97-105A>G single nucleotide variant not provided [RCV000835377] Chr6:118558720 [GRCh38]
Chr6:118879883 [GRCh37]
Chr6:6q22.31		 likely benign
GRCh37/hg19 6q22.31(chr6:118791787-119082978)x3 copy number gain not provided [RCV000846426] Chr6:118791787..119082978 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_118869224)_(118880253_?)dup duplication Dilated cardiomyopathy 1P [RCV000794813] Chr6:118548061..118559090 [GRCh38]
Chr6:118869224..118880253 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.*1012A>T single nucleotide variant Dilated cardiomyopathy 1P [RCV001151762] Chr6:118560092 [GRCh38]
Chr6:118881255 [GRCh37]
Chr6:6q22.31		 uncertain significance
GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1 copy number loss not provided [RCV000848701] Chr6:110981075..119608396 [GRCh37]
Chr6:6q21-22.31		 pathogenic
NM_002667.5(PLN):c.26_29dup (p.Ala11fs) duplication Dilated cardiomyopathy 1P [RCV001209777] Chr6:118558943..118558944 [GRCh38]
Chr6:118880106..118880107 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_002667.5(PLN):c.85C>T (p.Gln29Ter) single nucleotide variant Dilated cardiomyopathy 1P [RCV001221395] Chr6:118559006 [GRCh38]
Chr6:118880169 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_001042475.3(CEP85L):c.1020+5442A>T single nucleotide variant Dilated cardiomyopathy 1P [RCV001157227]|Dilated cardiomyopathy 1P [RCV002480561] Chr6:118560087 [GRCh38]
Chr6:118881250 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.-97-198AC[20] microsatellite not provided [RCV001671083] Chr6:118558626..118558627 [GRCh38]
Chr6:118879789..118879790 [GRCh37]
Chr6:6q22.31		 benign
NM_002667.5(PLN):c.-97-199_-97-198del deletion not provided [RCV001537405] Chr6:118558625..118558626 [GRCh38]
Chr6:118879788..118879789 [GRCh37]
Chr6:6q22.31		 likely benign
NM_002667.5(PLN):c.-97-293T>C single nucleotide variant not provided [RCV001556974] Chr6:118558532 [GRCh38]
Chr6:118879695 [GRCh37]
Chr6:6q22.31		 likely benign
NM_002667.5(PLN):c.-97-165_-97-160del deletion not provided [RCV001559645] Chr6:118558659..118558664 [GRCh38]
Chr6:118879822..118879827 [GRCh37]
Chr6:6q22.31		 likely benign
NM_002667.5(PLN):c.*903G>A single nucleotide variant Dilated cardiomyopathy 1P [RCV001157226] Chr6:118559983 [GRCh38]
Chr6:118881146 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.*1322C>T single nucleotide variant Dilated cardiomyopathy 1P [RCV001153003] Chr6:118560402 [GRCh38]
Chr6:118881565 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.-97-198AC[21] microsatellite not provided [RCV001619711] Chr6:118558626..118558627 [GRCh38]
Chr6:118879789..118879790 [GRCh37]
Chr6:6q22.31		 benign
NM_002667.5(PLN):c.-97-163G>C single nucleotide variant not provided [RCV001669546] Chr6:118558662 [GRCh38]
Chr6:118879825 [GRCh37]
Chr6:6q22.31		 benign
NM_002667.5(PLN):c.-97-169C>G single nucleotide variant not provided [RCV001596708] Chr6:118558656 [GRCh38]
Chr6:118879819 [GRCh37]
Chr6:6q22.31		 benign
NM_002667.5(PLN):c.-97-159G>C single nucleotide variant not provided [RCV001637582] Chr6:118558666 [GRCh38]
Chr6:118879829 [GRCh37]
Chr6:6q22.31		 benign
NM_002667.5(PLN):c.-97-198AC[19] microsatellite not provided [RCV001654099] Chr6:118558626..118558627 [GRCh38]
Chr6:118879789..118879790 [GRCh37]
Chr6:6q22.31		 benign
NM_002667.5(PLN):c.-97-198AC[15] microsatellite not provided [RCV001658404] Chr6:118558627..118558630 [GRCh38]
Chr6:118879790..118879793 [GRCh37]
Chr6:6q22.31		 benign
NM_001042475.3(CEP85L):c.1020+5170C>T single nucleotide variant Dilated cardiomyopathy 1P [RCV001153002]|Dilated cardiomyopathy 1P [RCV002491446]|not provided [RCV001724258] Chr6:118560359 [GRCh38]
Chr6:118881522 [GRCh37]
Chr6:6q22.31		 likely benign|uncertain significance
NM_002667.5(PLN):c.-56C>T single nucleotide variant Dilated cardiomyopathy 1P [RCV001155537]|not provided [RCV001655686]|not specified [RCV001702768] Chr6:118558866 [GRCh38]
Chr6:118880029 [GRCh37]
Chr6:6q22.31		 benign|uncertain significance
NM_002667.5(PLN):c.*80T>C single nucleotide variant Dilated cardiomyopathy 1P [RCV001155539] Chr6:118559160 [GRCh38]
Chr6:118880323 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.-97-167C>G single nucleotide variant not provided [RCV001640815] Chr6:118558658 [GRCh38]
Chr6:118879821 [GRCh37]
Chr6:6q22.31		 benign
NM_002667.5(PLN):c.*1098T>C single nucleotide variant Dilated cardiomyopathy 1P [RCV001151763] Chr6:118560178 [GRCh38]
Chr6:118881341 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_001042475.3(CEP85L):c.1020+6172T>C single nucleotide variant Dilated cardiomyopathy 1P [RCV001157225]|Dilated cardiomyopathy 1P [RCV002483901] Chr6:118559357 [GRCh38]
Chr6:118880520 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.151C>A (p.Leu51Ile) single nucleotide variant Dilated cardiomyopathy 1P [RCV001041423] Chr6:118559072 [GRCh38]
Chr6:118880235 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.90T>C (p.Asn30=) single nucleotide variant Dilated cardiomyopathy 1P [RCV001155538] Chr6:118559011 [GRCh38]
Chr6:118880174 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.*152G>A single nucleotide variant Dilated cardiomyopathy 1P [RCV001155540] Chr6:118559232 [GRCh38]
Chr6:118880395 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.116734559_123648104del deletion Seizure [RCV001256147] Chr6:116734559..123648104 [GRCh37]
Chr6:6q22.1-22.31		 pathogenic
GRCh37/hg19 6q22.31(chr6:118842806-119061150)x3 copy number gain not provided [RCV001259956] Chr6:118842806..119061150 [GRCh37]
Chr6:6q22.31		 likely benign
GRCh37/hg19 6q22.31(chr6:118871813-119007889)x1 copy number loss not provided [RCV001259957] Chr6:118871813..119007889 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_002667.5(PLN):c.61C>T (p.Pro21Ser) single nucleotide variant Hypertrophic cardiomyopathy 18 [RCV001330958] Chr6:118558982 [GRCh38]
Chr6:118880145 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_001042475.3(CEP85L):c.1020+17353T>C single nucleotide variant Dilated cardiomyopathy 1P [RCV001312401] Chr6:118548176 [GRCh38]
Chr6:118869339 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.154C>A (p.Leu52Ile) single nucleotide variant Cardiovascular phenotype [RCV002404877]|Dilated cardiomyopathy 1P [RCV001368208] Chr6:118559075 [GRCh38]
Chr6:118880238 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.149T>C (p.Met50Thr) single nucleotide variant Cardiomyopathy [RCV001799063]|Dilated cardiomyopathy 1P [RCV001316405] Chr6:118559070 [GRCh38]
Chr6:118880233 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_118868442)_(118882587_?)dup duplication Dilated cardiomyopathy 1P [RCV001364900] Chr6:118868442..118882587 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_118879986)_(118880253_?)dup duplication Dilated cardiomyopathy 1P [RCV001351441] Chr6:118879986..118880253 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.156C>A (p.Leu52=) single nucleotide variant Cardiovascular phenotype [RCV002405160]|Dilated cardiomyopathy 1P [RCV001492403] Chr6:118559077 [GRCh38]
Chr6:118880240 [GRCh37]
Chr6:6q22.31		 likely benign
NM_002667.5(PLN):c.9dup (p.Val4fs) duplication Dilated cardiomyopathy 1P [RCV001385330] Chr6:118558927..118558928 [GRCh38]
Chr6:118880090..118880091 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_002667.5(PLN):c.-97-206G>T single nucleotide variant not provided [RCV001683929] Chr6:118558619 [GRCh38]
Chr6:118879782 [GRCh37]
Chr6:6q22.31		 benign
NM_002667.5(PLN):c.-97-177_-97-162del deletion not provided [RCV001537537] Chr6:118558647..118558662 [GRCh38]
Chr6:118879810..118879825 [GRCh37]
Chr6:6q22.31		 benign
GRCh37/hg19 6q22.1-22.31(chr6:117951874-119112156)x1 copy number loss See cases [RCV002246179] Chr6:117951874..119112156 [GRCh37]
Chr6:6q22.1-22.31		 uncertain significance
NM_002667.5(PLN):c.151C>T (p.Leu51Phe) single nucleotide variant not provided [RCV001773301] Chr6:118559072 [GRCh38]
Chr6:118880235 [GRCh37]
Chr6:6q22.31		 uncertain significance
GRCh37/hg19 6q22.2-22.31(chr6:118490533-119281981) copy number gain not specified [RCV002053615] Chr6:118490533..119281981 [GRCh37]
Chr6:6q22.2-22.31		 uncertain significance
Single allele deletion Interstitial 6q microdeletion syndrome [RCV002280353] Chr6:115941808..133892653 [GRCh38]
Chr6:6q22.1-23.2		 pathogenic
GRCh37/hg19 6q22.1-22.31(chr6:116212698-119482708) copy number loss not specified [RCV002053610] Chr6:116212698..119482708 [GRCh37]
Chr6:6q22.1-22.31		 uncertain significance
NM_002667.5(PLN):c.95_98del (p.Phe32fs) deletion Dilated cardiomyopathy 1P [RCV002002359] Chr6:118559013..118559016 [GRCh38]
Chr6:118880176..118880179 [GRCh37]
Chr6:6q22.31		 pathogenic
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687) copy number loss not specified [RCV002053595] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31		 pathogenic
GRCh37/hg19 6q22.1-22.31(chr6:117441803-123349672)x3 copy number gain not provided [RCV001836590] Chr6:117441803..123349672 [GRCh37]
Chr6:6q22.1-22.31		 likely pathogenic
NM_001042475.3(CEP85L):c.1020+17347A>G single nucleotide variant Dilated cardiomyopathy 1P [RCV002029070]|Dilated cardiomyopathy 1P [RCV002507785] Chr6:118548182 [GRCh38]
Chr6:118869345 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.31G>A (p.Ala11Thr) single nucleotide variant Dilated cardiomyopathy 1P [RCV001888883] Chr6:118558952 [GRCh38]
Chr6:118880115 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.141C>G (p.Ile47Met) single nucleotide variant Dilated cardiomyopathy 1P [RCV001917766] Chr6:118559062 [GRCh38]
Chr6:118880225 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.56A>G (p.Glu19Gly) single nucleotide variant Cardiovascular phenotype [RCV002344034]|Dilated cardiomyopathy 1P [RCV001921033] Chr6:118558977 [GRCh38]
Chr6:118880140 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.79A>G (p.Lys27Glu) single nucleotide variant Dilated cardiomyopathy 1P [RCV002050246] Chr6:118559000 [GRCh38]
Chr6:118880163 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_118880085)_(118880243_?)del deletion Dilated cardiomyopathy 1P [RCV001959051] Chr6:118880085..118880243 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_002667.5(PLN):c.124C>A (p.Leu42Ile) single nucleotide variant Dilated cardiomyopathy 1P [RCV001883333] Chr6:118559045 [GRCh38]
Chr6:118880208 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.138T>C (p.Cys46=) single nucleotide variant Dilated cardiomyopathy 1P [RCV002114122] Chr6:118559059 [GRCh38]
Chr6:118880222 [GRCh37]
Chr6:6q22.31		 likely benign
NC_000006.11:g.(?_118880085)_(118880243_?)dup duplication Dilated cardiomyopathy 1P [RCV003122601] Chr6:118880085..118880243 [GRCh37]
Chr6:6q22.31		 uncertain significance
NC_000006.11:g.(?_116441236)_(119252888_?)del deletion Congenital disorder of glycosylation, type IAA [RCV003123076] Chr6:116441236..119252888 [GRCh37]
Chr6:6q22.1-22.31		 pathogenic
NM_002667.5(PLN):c.63_64del (p.Gln22fs) deletion Hypertrophic cardiomyopathy 18 [RCV002288325] Chr6:118558983..118558984 [GRCh38]
Chr6:118880146..118880147 [GRCh37]
Chr6:6q22.31		 likely pathogenic
NM_002667.5(PLN):c.35dup (p.Arg13fs) duplication Cardiovascular phenotype [RCV002455185] Chr6:118558955..118558956 [GRCh38]
Chr6:118880118..118880119 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.35T>C (p.Ile12Thr) single nucleotide variant Cardiovascular phenotype [RCV002455196] Chr6:118558956 [GRCh38]
Chr6:118880119 [GRCh37]
Chr6:6q22.31		 uncertain significance
GRCh37/hg19 6q22.31(chr6:118621039-119065365)x3 copy number gain not provided [RCV002472451] Chr6:118621039..119065365 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.126_127del (p.Leu43fs) microsatellite Cardiovascular phenotype [RCV002430343]|Dilated cardiomyopathy 1P [RCV003099900] Chr6:118559044..118559045 [GRCh38]
Chr6:118880207..118880208 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.38G>A (p.Arg13Lys) single nucleotide variant Cardiovascular phenotype [RCV002357459] Chr6:118558959 [GRCh38]
Chr6:118880122 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.114C>G (p.Ile38Met) single nucleotide variant Cardiovascular phenotype [RCV002346612] Chr6:118559035 [GRCh38]
Chr6:118880198 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.31G>C (p.Ala11Pro) single nucleotide variant Dilated cardiomyopathy 1P [RCV003013219] Chr6:118558952 [GRCh38]
Chr6:118880115 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.45C>A (p.Ala15_Ser16=) single nucleotide variant Dilated cardiomyopathy 1P [RCV003074216] Chr6:118558966 [GRCh38]
Chr6:118880129 [GRCh37]
Chr6:6q22.31		 likely benign
NM_002667.5(PLN):c.121T>A (p.Cys41Ser) single nucleotide variant Dilated cardiomyopathy 1P [RCV003037184] Chr6:118559042 [GRCh38]
Chr6:118880205 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.105_106del (p.Phe35fs) deletion Dilated cardiomyopathy 1P [RCV002736753] Chr6:118559025..118559026 [GRCh38]
Chr6:118880188..118880189 [GRCh37]
Chr6:6q22.31		 pathogenic
NM_002667.5(PLN):c.69A>G (p.Gln23_Ala24=) single nucleotide variant Dilated cardiomyopathy 1P [RCV002619970] Chr6:118558990 [GRCh38]
Chr6:118880153 [GRCh37]
Chr6:6q22.31		 likely benign
NM_002667.5(PLN):c.16T>C (p.Tyr6His) single nucleotide variant Dilated cardiomyopathy 1P [RCV002595829] Chr6:118558937 [GRCh38]
Chr6:118880100 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.143T>G (p.Ile48Ser) single nucleotide variant Dilated cardiomyopathy 1P [RCV002676002] Chr6:118559064 [GRCh38]
Chr6:118880227 [GRCh37]
Chr6:6q22.31		 uncertain significance
NM_002667.5(PLN):c.145_158del (p.Val49fs) deletion Dilated cardiomyopathy 1P [RCV002676004] Chr6:118559066..118559079 [GRCh38]
Chr6:118880229..118880242 [GRCh37]
Chr6:6q22.31		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:495
Count of miRNA genes:412
Interacting mature miRNAs:435
Transcripts:ENST00000357525
Prediction methods:Miranda
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-77838  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376118,869,208 - 118,869,501UniSTSGRCh37
Build 366118,975,901 - 118,976,194RGDNCBI36
Celera6119,612,534 - 119,612,827RGD
Cytogenetic Map6q22UniSTS
Cytogenetic Map6q22.1UniSTS
HuRef6116,450,872 - 116,451,165UniSTS
TNG Radiation Hybrid Map656598.0UniSTS
D6S1147E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376118,880,329 - 118,880,511UniSTSGRCh37
Build 366118,987,022 - 118,987,204RGDNCBI36
Celera6119,623,647 - 119,623,829RGD
Cytogenetic Map6q22UniSTS
Cytogenetic Map6q22.1UniSTS
HuRef6116,461,999 - 116,462,181UniSTS
SHGC-107437  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376118,873,592 - 118,873,882UniSTSGRCh37
Build 366118,980,285 - 118,980,575RGDNCBI36
Celera6119,616,918 - 119,617,208RGD
Cytogenetic Map6q22UniSTS
Cytogenetic Map6q22.1UniSTS
HuRef6116,455,256 - 116,455,546UniSTS
TNG Radiation Hybrid Map656629.0UniSTS
D12S1940  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376118,881,064 - 118,881,398UniSTSGRCh37
Build 366118,987,757 - 118,988,091RGDNCBI36
Celera6119,624,382 - 119,624,716RGD
Cytogenetic Map6q22UniSTS
Cytogenetic Map6q22.1UniSTS
HuRef6116,462,734 - 116,463,068UniSTS
Whitehead-YAC Contig Map12 UniSTS
GeneMap99-G3 RH Map65349.0UniSTS
D6S1145E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376118,880,325 - 118,880,511UniSTSGRCh37
Build 366118,987,018 - 118,987,204RGDNCBI36
Celera6119,623,643 - 119,623,829RGD
Cytogenetic Map6q22UniSTS
Cytogenetic Map6q22.1UniSTS
HuRef6116,461,995 - 116,462,181UniSTS
GeneMap99-GB4 RH Map6496.77UniSTS
NCBI RH Map61486.2UniSTS
RH44514  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6q22.1UniSTS
GeneMap99-GB4 RH Map6496.67UniSTS


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 1 650 265 170 265
Medium 1976 1570 609 32 183 6 2884 1955 648 172 793 1063 29 1053 2110 1
Low 331 229 798 400 610 264 952 22 2194 186 497 335 136 1 150 412 2 2
Below cutoff 18 519 278 166 722 165 104 15 842 21 66 43 3 1 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000357525   ⟹   ENSP00000350132
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6118,548,296 - 118,561,716 (+)Ensembl
RefSeq Acc Id: NM_002667   ⟹   NP_002658
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386118,548,296 - 118,561,716 (+)NCBI
GRCh376118,869,442 - 118,881,587 (+)ENTREZGENE
Build 366118,976,165 - 118,988,280 (+)NCBI Archive
HuRef6116,451,106 - 116,463,257 (+)ENTREZGENE
CHM1_16119,133,471 - 119,146,919 (+)NCBI
T2T-CHM13v2.06119,733,450 - 119,746,868 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002658   ⟸   NM_002667
- UniProtKB: P26678 (UniProtKB/Swiss-Prot),   Q5R352 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000350132   ⟸   ENST00000357525

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P26678-F1-model_v2 AlphaFold P26678 1-52 view protein structure

Promoters
RGD ID:7209009
Promoter ID:EPDNEW_H10250
Type:initiation region
Name:PLN_1
Description:phospholamban
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386118,548,298 - 118,548,358EPDNEW
RGD ID:6804543
Promoter ID:HG_KWN:54814
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:UC010KEH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 366118,986,826 - 118,987,326 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9080 AgrOrtholog
COSMIC PLN COSMIC
Ensembl Genes ENSG00000198523 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000350132 ENTREZGENE
  ENSP00000350132.5 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000357525 ENTREZGENE
  ENST00000357525.6 UniProtKB/Swiss-Prot
Gene3D-CATH Phospholamban UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000198523 GTEx
HGNC ID HGNC:9080 ENTREZGENE
Human Proteome Map PLN Human Proteome Map
InterPro PLB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5350 ENTREZGENE
OMIM 172405 OMIM
  609909 OMIM
  613874 OMIM
PANTHER CARDIAC PHOSPHOLAMBAN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR21194 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Phospholamban UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA272 PharmGKB, RGD
PIRSF PLB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs P_lamban UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt P26678 ENTREZGENE, UniProtKB/Swiss-Prot
  Q5R352 ENTREZGENE, UniProtKB/TrEMBL