PAPPA (pappalysin 1) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: PAPPA (pappalysin 1) Homo sapiens
Analyze
Symbol: PAPPA
Name: pappalysin 1
RGD ID: 1317112
HGNC Page HGNC:8602
Description: Enables metalloendopeptidase activity. Predicted to be involved in cell surface receptor signaling pathway and proteolysis. Located in extracellular region. Implicated in myocardial infarction. Biomarker of artery disease (multiple); degenerative disc disease; and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ASBABP2; aspecific BCL2 ARE-binding protein 2; differentially placenta 1 expressed protein; DIPLA1; IGF-dependent IGFBP-4 protease; IGFBP-4ase; insulin-like growth factor-dependent IGF binding protein-4 protease; insulin-like growth factor-dependent IGF-binding protein 4 protease; PAPA; PAPP-A; PAPPA1; pappalysin-1; pregnacy-associated plasma protein A; pregnancy-associated plasma protein A, pappalysin 1
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
GRCh389116,153,791 - 116,402,321 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9116,153,791 - 116,402,321 (+)EnsemblGRCh38hg38GRCh38
GRCh379118,916,070 - 119,164,600 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369117,955,892 - 118,204,421 (+)NCBINCBI36Build 36hg18NCBI36
Build 349115,995,624 - 116,244,153NCBI
Celera989,563,743 - 89,812,291 (+)NCBICelera
Cytogenetic Map9q33.1NCBI
HuRef988,522,043 - 88,770,156 (+)NCBIHuRef
CHM1_19119,062,528 - 119,311,011 (+)NCBICHM1_1
T2T-CHM13v2.09128,346,843 - 128,595,327 (+)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)
17beta-estradiol  (EXP,ISO)
2,2',5,5'-tetrachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3,4-dichloroaniline  (EXP)
3-chloropropane-1,2-diol  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
actinomycin D  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP,ISO)
amitrole  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
Benzo[k]fluoranthene  (ISO)
beta-naphthoflavone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
C60 fullerene  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
cisplatin  (EXP)
crocidolite asbestos  (EXP)
cycloheximide  (EXP)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (EXP,ISO)
disodium selenite  (EXP)
diuron  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
formaldehyde  (EXP)
geldanamycin  (EXP)
gemcitabine  (EXP)
gentamycin  (ISO)
levonorgestrel  (EXP)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
mercury dibromide  (EXP)
methapyrilene  (EXP)
methimazole  (ISO)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
microcystin-LR  (EXP,ISO)
N(6)-methyladenosine  (EXP)
naphthalene  (ISO)
Octicizer  (EXP)
ozone  (ISO)
paracetamol  (ISO)
phenethyl isothiocyanate  (EXP)
phenylmercury acetate  (EXP)
potassium dichromate  (ISO)
progesterone  (EXP)
raloxifene  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
serpentine asbestos  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
succimer  (EXP)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
temozolomide  (EXP)
testosterone undecanoate  (EXP)
titanium dioxide  (ISO)
triadimefon  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
troglitazone  (EXP)
valproic acid  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
extracellular region  (IDA,IEA,NAS,TAS)
extracellular space  (IBA,IEA,ISO)
membrane  (IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Elevated pregnancy-associated plasma protein-a in sera from type 2 diabetic patients with hypercholesterolemia: associations with carotid atherosclerosis and toe-brachial index. Aso Y, etal., J Clin Endocrinol Metab. 2004 Nov;89(11):5713-7.
2. Serum plasma pregnancy-associated protein A: a potential marker of echogenic carotid atherosclerotic plaques in asymptomatic hyperlipidemic subjects at high cardiovascular risk. Beaudeux JL, etal., Arterioscler Thromb Vasc Biol. 2003 Jan 1;23(1):e7-10.
3. Relationship among pregnancy associated plasma protein-A levels, clinical characteristics, and coronary artery disease extent in patients with chronic stable angina pectoris. Cosin-Sales J, etal., Eur Heart J. 2005 Oct;26(20):2093-8. Epub 2005 Jul 29.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Immunolocalization and biochemical evidence of pregnancy-associated plasma protein A in the intervertebral disc. Gruber HE, etal., Spine (Phila Pa 1976). 2008 Jun 15;33(14):E447-54. doi: 10.1097/BRS.0b013e318178e642.
6. Genetic deletion of pregnancy-associated plasma protein-A is associated with resistance to atherosclerotic lesion development in apolipoprotein E-deficient mice challenged with a high-fat diet. Harrington SC, etal., Circ Res. 2007 Jun 22;100(12):1696-702. Epub 2007 May 17.
7. Increased pregnancy-associated plasma protein-A as a marker for peripheral atherosclerosis: results from the Linz Peripheral Arterial Disease Study. Mueller T, etal., Clin Chem. 2006 Jun;52(6):1096-103. Epub 2006 Apr 13.
8. Genetic polymorphism in the pregnancy-associated plasma protein-A associated with acute myocardial infarction. Park S, etal., Coron Artery Dis. 2007 Sep;18(6):417-22.
9. Serum levels of human placental lactogen, pregnancy-associated plasma protein A and endometrial secretory protein PP14 in first trimester of diabetic pregnancy. Pedersen JF, etal., Acta Obstet Gynecol Scand. 1998 Feb;77(2):155-8.
10. Pregnancy-associated plasma protein-a levels are related to glycemic control but not to lipid profile or hemostatic parameters in type 2 diabetes. Pellitero S, etal., Diabetes Care. 2007 Dec;30(12):3083-5. Epub 2007 Aug 29.
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
14. Increased levels of pregnancy-associated plasma protein-A in patients with hypercholesterolemia: the effect of atorvastatin treatment. Stulc T, etal., Am Heart J. 2003 Dec;146(6):E21.
15. Decreased first trimester PAPP-A is a predictor of adverse pregnancy outcome. Yaron Y, etal., Prenat Diagn. 2002 Sep;22(9):778-82.
Additional References at PubMed
PMID:1721035   PMID:2422961   PMID:2427179   PMID:2438405   PMID:6084247   PMID:6172371   PMID:6203109   PMID:6207082   PMID:7508748   PMID:7512304   PMID:7526035   PMID:7539791  
PMID:7586586   PMID:7679961   PMID:7685339   PMID:8620868   PMID:9751498   PMID:10077652   PMID:10491647   PMID:10913121   PMID:11134163   PMID:11513734   PMID:11522292   PMID:11822024  
PMID:11897673   PMID:11914564   PMID:12087395   PMID:12213189   PMID:12241545   PMID:12370176   PMID:12414897   PMID:12421832   PMID:12477932   PMID:12626203   PMID:12687209   PMID:12744930  
PMID:12817760   PMID:12970325   PMID:14530192   PMID:14657012   PMID:14702039   PMID:14705967   PMID:14988014   PMID:15146551   PMID:15231748   PMID:15262980   PMID:15305104   PMID:15450385  
PMID:15489334   PMID:15647258   PMID:15656990   PMID:15754336   PMID:15919757   PMID:16086443   PMID:16115888   PMID:16344560   PMID:16368877   PMID:16388849   PMID:16522924   PMID:16959807  
PMID:16963045   PMID:17145752   PMID:17177834   PMID:17223728   PMID:17237617   PMID:17314100   PMID:17437322   PMID:17509577   PMID:17516846   PMID:17565927   PMID:17714879   PMID:17936662  
PMID:18029348   PMID:18089325   PMID:18267116   PMID:18279673   PMID:18295168   PMID:18377765   PMID:18391950   PMID:18434323   PMID:18789800   PMID:18805800   PMID:18855223   PMID:18925584  
PMID:19003798   PMID:19106261   PMID:19173346   PMID:19246276   PMID:19304869   PMID:19318028   PMID:19322201   PMID:19328196   PMID:19365167   PMID:19646567   PMID:19781342   PMID:19842139  
PMID:19842999   PMID:19862778   PMID:20087924   PMID:20148724   PMID:20379614   PMID:20388505   PMID:20472761   PMID:20509148   PMID:20515576   PMID:20583170   PMID:20716560   PMID:20734665  
PMID:20865665   PMID:20881960   PMID:21093861   PMID:21111564   PMID:21290395   PMID:21324404   PMID:21360554   PMID:21360961   PMID:21427871   PMID:21557695   PMID:21631965   PMID:21717483  
PMID:21753069   PMID:21779191   PMID:21781597   PMID:21873635   PMID:21986593   PMID:22015022   PMID:22123284   PMID:22148978   PMID:22365285   PMID:22367671   PMID:22377654   PMID:22395770  
PMID:22630333   PMID:22644835   PMID:22709655   PMID:22783577   PMID:22836155   PMID:22940118   PMID:22954283   PMID:23010598   PMID:23122949   PMID:23152806   PMID:23169786   PMID:23461814  
PMID:23569011   PMID:23642968   PMID:23654313   PMID:23756051   PMID:23795618   PMID:23795813   PMID:23821525   PMID:23880622   PMID:23881937   PMID:23891063   PMID:23891271   PMID:24060054  
PMID:24069146   PMID:24099568   PMID:24107527   PMID:24151105   PMID:24155168   PMID:24171308   PMID:24188108   PMID:24201068   PMID:24226752   PMID:24226839   PMID:24227626   PMID:24304164  
PMID:24312907   PMID:24338604   PMID:24395628   PMID:24667032   PMID:24743523   PMID:24786703   PMID:24800985   PMID:24817938   PMID:24931331   PMID:24940710   PMID:25016703   PMID:25108075  
PMID:25139218   PMID:25159705   PMID:25238218   PMID:25316741   PMID:25395363   PMID:25468445   PMID:25543334   PMID:25596909   PMID:25617049   PMID:25633269   PMID:25639820   PMID:25720282  
PMID:25773764   PMID:25845987   PMID:25846403   PMID:25858516   PMID:26020769   PMID:26122709   PMID:26214492   PMID:26223809   PMID:26297643   PMID:26336825   PMID:26344197   PMID:26362726  
PMID:26520690   PMID:26697810   PMID:26773241   PMID:26823756   PMID:26874357   PMID:26951623   PMID:26983002   PMID:27007282   PMID:27090654   PMID:27125092   PMID:27793387   PMID:27809366  
PMID:27809614   PMID:28027672   PMID:28323969   PMID:28381225   PMID:28514830   PMID:28537443   PMID:28606451   PMID:28655969   PMID:28675948   PMID:28706275   PMID:28791822   PMID:29144175  
PMID:29507755   PMID:29532882   PMID:29587776   PMID:29674192   PMID:29712555   PMID:29758559   PMID:29973962   PMID:30021884   PMID:30340109   PMID:30371129   PMID:30487186   PMID:31046834  
PMID:31138428   PMID:31177175   PMID:31187330   PMID:31401027   PMID:31631239   PMID:31670029   PMID:32238831   PMID:32292079   PMID:32459893   PMID:32470448   PMID:32500475   PMID:32569826  
PMID:32684596   PMID:32746916   PMID:32792532   PMID:33239385   PMID:33388371   PMID:33561324   PMID:33788403   PMID:33979553   PMID:34329446   PMID:34350538   PMID:34469009   PMID:34645361  
PMID:34842180   PMID:34974815   PMID:35013837   PMID:35098542   PMID:35164639   PMID:35174583   PMID:35563038   PMID:35620813   PMID:35620869   PMID:35796937   PMID:35971034   PMID:36549546  
PMID:37062114   PMID:37176126   PMID:37267421   PMID:37916365   PMID:38082246  


Genomics

Comparative Map Data
PAPPA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389116,153,791 - 116,402,321 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9116,153,791 - 116,402,321 (+)EnsemblGRCh38hg38GRCh38
GRCh379118,916,070 - 119,164,600 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369117,955,892 - 118,204,421 (+)NCBINCBI36Build 36hg18NCBI36
Build 349115,995,624 - 116,244,153NCBI
Celera989,563,743 - 89,812,291 (+)NCBICelera
Cytogenetic Map9q33.1NCBI
HuRef988,522,043 - 88,770,156 (+)NCBIHuRef
CHM1_19119,062,528 - 119,311,011 (+)NCBICHM1_1
T2T-CHM13v2.09128,346,843 - 128,595,327 (+)NCBIT2T-CHM13v2.0
Pappa
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39465,041,993 - 65,276,776 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl465,042,411 - 65,275,746 (+)EnsemblGRCm39 Ensembl
GRCm38465,124,174 - 65,357,509 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl465,124,174 - 65,357,509 (+)EnsemblGRCm38mm10GRCm38
MGSCv37464,785,208 - 65,018,543 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36464,610,535 - 64,843,870 (+)NCBIMGSCv36mm8
Celera463,757,793 - 63,990,719 (+)NCBICelera
Cytogenetic Map4C1NCBI
cM Map434.14NCBI
Pappa
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8583,513,358 - 83,751,364 (+)NCBIGRCr8
mRatBN7.2578,497,660 - 78,735,873 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl578,498,300 - 78,730,666 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx580,896,842 - 81,127,185 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0582,714,097 - 82,944,461 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0582,689,523 - 82,919,890 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0580,919,932 - 81,153,904 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl580,920,568 - 81,150,940 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0585,016,666 - 85,250,825 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4581,826,649 - 82,096,446 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1581,831,223 - 82,101,515 (+)NCBI
Celera577,424,809 - 77,652,094 (+)NCBICelera
Cytogenetic Map5q24NCBI
Pappa
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541911,420,638 - 11,646,145 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541911,415,666 - 11,645,994 (-)NCBIChiLan1.0ChiLan1.0
PAPPA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21122,942,556 - 23,192,781 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1922,944,917 - 23,192,972 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0987,287,289 - 87,535,414 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19115,671,212 - 115,889,135 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9115,671,212 - 115,883,435 (+)Ensemblpanpan1.1panPan2
PAPPA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11169,979,295 - 70,220,256 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1169,982,268 - 70,219,550 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1168,392,497 - 68,629,030 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01171,108,595 - 71,345,430 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1171,107,725 - 71,343,011 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11169,628,797 - 69,865,662 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01169,664,343 - 69,901,964 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01170,393,453 - 70,630,160 (+)NCBIUU_Cfam_GSD_1.0
Pappa
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947185,275,435 - 185,613,104 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364875,144,044 - 5,376,367 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364875,000,279 - 5,379,786 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PAPPA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1256,544,928 - 256,780,760 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11256,544,496 - 256,784,813 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21287,904,036 - 288,142,436 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PAPPA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11223,182,856 - 23,427,092 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1223,184,704 - 23,427,165 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603519,450,870 - 19,695,969 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pappa
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476018,848,021 - 19,078,657 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476018,842,353 - 19,078,657 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PAPPA
108 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_002581.3(PAPPA):c.915C>A (p.Ser305Arg) single nucleotide variant Malignant melanoma [RCV000068506] Chr9:116187653 [GRCh38]
Chr9:118949932 [GRCh37]
Chr9:117989753 [NCBI36]
Chr9:9q33.1		 not provided
NM_002581.3(PAPPA):c.2845G>A (p.Asp949Asn) single nucleotide variant Malignant melanoma [RCV000068507] Chr9:116265969 [GRCh38]
Chr9:119028248 [GRCh37]
Chr9:118068069 [NCBI36]
Chr9:9q33.1		 not provided
NM_002581.3(PAPPA):c.2881G>A (p.Asp961Asn) single nucleotide variant Malignant melanoma [RCV000068508] Chr9:116271344 [GRCh38]
Chr9:119033623 [GRCh37]
Chr9:118073444 [NCBI36]
Chr9:9q33.1		 not provided
NM_002581.3(PAPPA):c.3158C>T (p.Thr1053Ile) single nucleotide variant Malignant melanoma [RCV000068509] Chr9:116331254 [GRCh38]
Chr9:119093533 [GRCh37]
Chr9:118133354 [NCBI36]
Chr9:9q33.1		 not provided
NM_002581.3(PAPPA):c.2079G>A (p.Trp693Ter) single nucleotide variant Malignant melanoma [RCV000061869] Chr9:116220097 [GRCh38]
Chr9:118982376 [GRCh37]
Chr9:118022197 [NCBI36]
Chr9:9q33.1		 not provided
NM_002581.3(PAPPA):c.2647C>T (p.Pro883Ser) single nucleotide variant Malignant melanoma [RCV000061870] Chr9:116235552 [GRCh38]
Chr9:118997831 [GRCh37]
Chr9:118037652 [NCBI36]
Chr9:9q33.1		 not provided
NM_002581.3(PAPPA):c.2648C>T (p.Pro883Leu) single nucleotide variant Malignant melanoma [RCV000061871] Chr9:116235553 [GRCh38]
Chr9:118997832 [GRCh37]
Chr9:118037653 [NCBI36]
Chr9:9q33.1		 not provided
NM_002581.3(PAPPA):c.4219G>A (p.Glu1407Lys) single nucleotide variant Malignant melanoma [RCV000061872] Chr9:116353665 [GRCh38]
Chr9:119115944 [GRCh37]
Chr9:118155765 [NCBI36]
Chr9:9q33.1		 not provided
NM_002581.3(PAPPA):c.4347+687C>A single nucleotide variant Lung cancer [RCV000108069] Chr9:116354480 [GRCh38]
Chr9:119116759 [GRCh37]
Chr9:9q33.1		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.1(chr9:116328021-117227757)x1 copy number loss See cases [RCV000139421] Chr9:116328021..117227757 [GRCh38]
Chr9:119090300..119990036 [GRCh37]
Chr9:118130121..119029857 [NCBI36]
Chr9:9q33.1		 uncertain significance
GRCh38/hg38 9q33.1(chr9:115444030-116190111)x3 copy number gain See cases [RCV000139218] Chr9:115444030..116190111 [GRCh38]
Chr9:118206309..118952390 [GRCh37]
Chr9:117246130..117992211 [NCBI36]
Chr9:9q33.1		 likely benign
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1 copy number loss See cases [RCV000140794] Chr9:107530314..117965944 [GRCh38]
Chr9:110292595..120728222 [GRCh37]
Chr9:109332416..119768043 [NCBI36]
Chr9:9q31.2-33.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q32-33.1(chr9:117666205-119059572)x3 copy number gain See cases [RCV000240103] Chr9:117666205..119059572 [GRCh37]
Chr9:9q32-33.1		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_002581.5(PAPPA):c.1292C>G (p.Thr431Arg) single nucleotide variant Inborn genetic diseases [RCV003267496] Chr9:116188030 [GRCh38]
Chr9:118950309 [GRCh37]
Chr9:9q33.1		 uncertain significance
GRCh37/hg19 9q33.1(chr9:118920244-119586440)x3 copy number gain not provided [RCV000488303] Chr9:118920244..119586440 [GRCh37]
Chr9:9q33.1		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)x1 copy number loss See cases [RCV000447763] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.1(chr9:119122111-119411327)x1 copy number loss See cases [RCV000512117] Chr9:119122111..119411327 [GRCh37]
Chr9:9q33.1		 uncertain significance
GRCh37/hg19 9q33.1(chr9:118602947-121246861)x1 copy number loss See cases [RCV000511914] Chr9:118602947..121246861 [GRCh37]
Chr9:9q33.1		 likely pathogenic
GRCh37/hg19 9q31.3-33.2(chr9:114299780-123267736)x1 copy number loss See cases [RCV000511049] Chr9:114299780..123267736 [GRCh37]
Chr9:9q31.3-33.2		 pathogenic
NM_002581.5(PAPPA):c.206G>C (p.Trp69Ser) single nucleotide variant Inborn genetic diseases [RCV003257892] Chr9:116154378 [GRCh38]
Chr9:118916657 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.4048C>T (p.Pro1350Ser) single nucleotide variant Inborn genetic diseases [RCV003292237] Chr9:116352789 [GRCh38]
Chr9:119115068 [GRCh37]
Chr9:9q33.1		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
NM_002581.5(PAPPA):c.779A>C (p.Lys260Thr) single nucleotide variant Inborn genetic diseases [RCV003272996] Chr9:116187517 [GRCh38]
Chr9:118949796 [GRCh37]
Chr9:9q33.1		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
Single allele duplication Autosomal dominant nonsyndromic hearing loss 56 [RCV000678024] Chr9:117666205..119059572 [GRCh37]
Chr9:9q32-33.1		 uncertain significance
GRCh37/hg19 9q31.3-33.3(chr9:113083182-126779494)x1 copy number loss not provided [RCV000748606] Chr9:113083182..126779494 [GRCh37]
Chr9:9q31.3-33.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_002581.5(PAPPA):c.463G>A (p.Val155Met) single nucleotide variant not provided [RCV000971050] Chr9:116187201 [GRCh38]
Chr9:118949480 [GRCh37]
Chr9:9q33.1		 benign
NM_002581.5(PAPPA):c.3738C>T (p.Tyr1246=) single nucleotide variant not provided [RCV000899142] Chr9:116344669 [GRCh38]
Chr9:119106948 [GRCh37]
Chr9:9q33.1		 benign
NM_002581.5(PAPPA):c.2032G>C (p.Ala678Pro) single nucleotide variant not provided [RCV000947202] Chr9:116220050 [GRCh38]
Chr9:118982329 [GRCh37]
Chr9:9q33.1		 benign
NM_002581.5(PAPPA):c.3702C>T (p.His1234=) single nucleotide variant not provided [RCV000903241] Chr9:116344633 [GRCh38]
Chr9:119106912 [GRCh37]
Chr9:9q33.1		 benign|likely benign
NM_002581.5(PAPPA):c.694A>T (p.Thr232Ser) single nucleotide variant Inborn genetic diseases [RCV003269738] Chr9:116187432 [GRCh38]
Chr9:118949711 [GRCh37]
Chr9:9q33.1		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_002581.5(PAPPA):c.1116C>T (p.Arg372=) single nucleotide variant not provided [RCV000906959] Chr9:116187854 [GRCh38]
Chr9:118950133 [GRCh37]
Chr9:9q33.1		 likely benign
NM_002581.5(PAPPA):c.4352T>C (p.Leu1451Pro) single nucleotide variant not provided [RCV000879234] Chr9:116362596 [GRCh38]
Chr9:119124875 [GRCh37]
Chr9:9q33.1		 benign
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
NM_002581.5(PAPPA):c.3901C>T (p.Pro1301Ser) single nucleotide variant Inborn genetic diseases [RCV003292898] Chr9:116347146 [GRCh38]
Chr9:119109425 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.259A>G (p.Thr87Ala) single nucleotide variant Inborn genetic diseases [RCV003241736] Chr9:116154431 [GRCh38]
Chr9:118916710 [GRCh37]
Chr9:9q33.1		 likely benign
NM_002581.5(PAPPA):c.3671C>A (p.Ser1224Tyr) single nucleotide variant not provided [RCV001638699] Chr9:116344602 [GRCh38]
Chr9:119106881 [GRCh37]
Chr9:9q33.1		 benign
NM_002581.5(PAPPA):c.3558C>T (p.Pro1186=) single nucleotide variant not provided [RCV000936492] Chr9:116335021 [GRCh38]
Chr9:119097300 [GRCh37]
Chr9:9q33.1		 likely benign
NM_002581.5(PAPPA):c.4086C>T (p.Cys1362=) single nucleotide variant not provided [RCV000907373] Chr9:116352827 [GRCh38]
Chr9:119115106 [GRCh37]
Chr9:9q33.1		 benign
NM_002581.5(PAPPA):c.3695G>A (p.Arg1232His) single nucleotide variant not provided [RCV000889709] Chr9:116344626 [GRCh38]
Chr9:119106905 [GRCh37]
Chr9:9q33.1		 benign
GRCh37/hg19 9q33.1-33.2(chr9:117853848-124633077)x1 copy number loss Delayed speech and language development [RCV001801196] Chr9:117853848..124633077 [GRCh37]
Chr9:9q33.1-33.2		 uncertain significance
GRCh37/hg19 9q33.1(chr9:119116147-119313250)x1 copy number loss not provided [RCV001834251] Chr9:119116147..119313250 [GRCh37]
Chr9:9q33.1		 uncertain significance
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089) copy number loss not specified [RCV002052825] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3		 pathogenic
GRCh37/hg19 9q32-34.11(chr9:116422275-131713233) copy number gain not specified [RCV002052831] Chr9:116422275..131713233 [GRCh37]
Chr9:9q32-34.11		 pathogenic
GRCh37/hg19 9q32-33.1(chr9:116506015-119942279) copy number loss not specified [RCV002052832] Chr9:116506015..119942279 [GRCh37]
Chr9:9q32-33.1		 uncertain significance
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
NM_002581.5(PAPPA):c.1345G>A (p.Val449Met) single nucleotide variant Inborn genetic diseases [RCV002749703] Chr9:116188083 [GRCh38]
Chr9:118950362 [GRCh37]
Chr9:9q33.1		 likely benign
NM_002581.5(PAPPA):c.1154C>A (p.Ala385Asp) single nucleotide variant Inborn genetic diseases [RCV002817949] Chr9:116187892 [GRCh38]
Chr9:118950171 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.1667A>G (p.His556Arg) single nucleotide variant Inborn genetic diseases [RCV002818679] Chr9:116211681 [GRCh38]
Chr9:118973960 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.1101C>A (p.Asn367Lys) single nucleotide variant Inborn genetic diseases [RCV002728992] Chr9:116187839 [GRCh38]
Chr9:118950118 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.4163G>A (p.Arg1388Gln) single nucleotide variant Inborn genetic diseases [RCV002817131] Chr9:116352904 [GRCh38]
Chr9:119115183 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.533G>A (p.Arg178Gln) single nucleotide variant Inborn genetic diseases [RCV002879999] Chr9:116187271 [GRCh38]
Chr9:118949550 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.1816G>C (p.Ala606Pro) single nucleotide variant Inborn genetic diseases [RCV002840259] Chr9:116211830 [GRCh38]
Chr9:118974109 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.3875A>C (p.Gln1292Pro) single nucleotide variant Inborn genetic diseases [RCV002752999] Chr9:116347120 [GRCh38]
Chr9:119109399 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.4218G>T (p.Gln1406His) single nucleotide variant Inborn genetic diseases [RCV002779807] Chr9:116353664 [GRCh38]
Chr9:119115943 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.3338A>G (p.Gln1113Arg) single nucleotide variant Inborn genetic diseases [RCV002732087] Chr9:116332409 [GRCh38]
Chr9:119094688 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.209A>G (p.Glu70Gly) single nucleotide variant Inborn genetic diseases [RCV002732949] Chr9:116154381 [GRCh38]
Chr9:118916660 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.4363G>A (p.Val1455Ile) single nucleotide variant Inborn genetic diseases [RCV002782961] Chr9:116362607 [GRCh38]
Chr9:119124886 [GRCh37]
Chr9:9q33.1		 likely benign
NM_002581.5(PAPPA):c.328G>A (p.Ala110Thr) single nucleotide variant Inborn genetic diseases [RCV003000555] Chr9:116154500 [GRCh38]
Chr9:118916779 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.821C>T (p.Thr274Ile) single nucleotide variant Inborn genetic diseases [RCV002757770] Chr9:116187559 [GRCh38]
Chr9:118949838 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.32G>A (p.Gly11Glu) single nucleotide variant Inborn genetic diseases [RCV002693166] Chr9:116154204 [GRCh38]
Chr9:118916483 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.565C>T (p.Arg189Cys) single nucleotide variant Inborn genetic diseases [RCV002693174] Chr9:116187303 [GRCh38]
Chr9:118949582 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.1717G>A (p.Val573Ile) single nucleotide variant Inborn genetic diseases [RCV002823207] Chr9:116211731 [GRCh38]
Chr9:118974010 [GRCh37]
Chr9:9q33.1		 likely benign
NM_002581.5(PAPPA):c.1188C>A (p.Asp396Glu) single nucleotide variant Inborn genetic diseases [RCV002799018] Chr9:116187926 [GRCh38]
Chr9:118950205 [GRCh37]
Chr9:9q33.1		 likely benign
NM_002581.5(PAPPA):c.2536G>T (p.Val846Leu) single nucleotide variant Inborn genetic diseases [RCV002868557] Chr9:116235441 [GRCh38]
Chr9:118997720 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.587G>T (p.Trp196Leu) single nucleotide variant Inborn genetic diseases [RCV002868165] Chr9:116187325 [GRCh38]
Chr9:118949604 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.131C>G (p.Pro44Arg) single nucleotide variant Inborn genetic diseases [RCV002951912] Chr9:116154303 [GRCh38]
Chr9:118916582 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.4078G>A (p.Ala1360Thr) single nucleotide variant Inborn genetic diseases [RCV002693262] Chr9:116352819 [GRCh38]
Chr9:119115098 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.437A>C (p.Tyr146Ser) single nucleotide variant Inborn genetic diseases [RCV002854487] Chr9:116187175 [GRCh38]
Chr9:118949454 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.2548G>A (p.Val850Met) single nucleotide variant Inborn genetic diseases [RCV002874432] Chr9:116235453 [GRCh38]
Chr9:118997732 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.4457G>T (p.Ser1486Ile) single nucleotide variant Inborn genetic diseases [RCV002919316] Chr9:116362701 [GRCh38]
Chr9:119124980 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.3694C>T (p.Arg1232Cys) single nucleotide variant Inborn genetic diseases [RCV002825913] Chr9:116344625 [GRCh38]
Chr9:119106904 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.541C>A (p.Gln181Lys) single nucleotide variant Inborn genetic diseases [RCV002892833] Chr9:116187279 [GRCh38]
Chr9:118949558 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.2930A>T (p.Gln977Leu) single nucleotide variant Inborn genetic diseases [RCV002893319] Chr9:116271393 [GRCh38]
Chr9:119033672 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.2461G>A (p.Val821Ile) single nucleotide variant Inborn genetic diseases [RCV002743723] Chr9:116235366 [GRCh38]
Chr9:118997645 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.538C>G (p.Arg180Gly) single nucleotide variant Inborn genetic diseases [RCV002804509] Chr9:116187276 [GRCh38]
Chr9:118949555 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.4738G>A (p.Gly1580Ser) single nucleotide variant Inborn genetic diseases [RCV002964848] Chr9:116382455 [GRCh38]
Chr9:119144734 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.305G>A (p.Arg102Gln) single nucleotide variant Inborn genetic diseases [RCV002877830] Chr9:116154477 [GRCh38]
Chr9:118916756 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.2222G>C (p.Arg741Pro) single nucleotide variant Inborn genetic diseases [RCV002920892] Chr9:116227541 [GRCh38]
Chr9:118989820 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.1439A>G (p.Asn480Ser) single nucleotide variant Inborn genetic diseases [RCV002747201] Chr9:116188177 [GRCh38]
Chr9:118950456 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.4061A>G (p.Asn1354Ser) single nucleotide variant Inborn genetic diseases [RCV002724846] Chr9:116352802 [GRCh38]
Chr9:119115081 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.3473A>G (p.His1158Arg) single nucleotide variant Inborn genetic diseases [RCV002944566] Chr9:116334936 [GRCh38]
Chr9:119097215 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.1114C>T (p.Arg372Cys) single nucleotide variant Inborn genetic diseases [RCV002944458] Chr9:116187852 [GRCh38]
Chr9:118950131 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.26A>G (p.His9Arg) single nucleotide variant Inborn genetic diseases [RCV003255716] Chr9:116154198 [GRCh38]
Chr9:118916477 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.1743G>T (p.Gln581His) single nucleotide variant Inborn genetic diseases [RCV003220811] Chr9:116211757 [GRCh38]
Chr9:118974036 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.3616G>T (p.Val1206Leu) single nucleotide variant Inborn genetic diseases [RCV003204557] Chr9:116344547 [GRCh38]
Chr9:119106826 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.4154G>A (p.Gly1385Glu) single nucleotide variant Inborn genetic diseases [RCV003206054] Chr9:116352895 [GRCh38]
Chr9:119115174 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.1366G>T (p.Val456Leu) single nucleotide variant Inborn genetic diseases [RCV003215875] Chr9:116188104 [GRCh38]
Chr9:118950383 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.1924G>A (p.Asp642Asn) single nucleotide variant Inborn genetic diseases [RCV003191122] Chr9:116219942 [GRCh38]
Chr9:118982221 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.3646C>A (p.Pro1216Thr) single nucleotide variant Inborn genetic diseases [RCV003199687] Chr9:116344577 [GRCh38]
Chr9:119106856 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.2752G>A (p.Val918Met) single nucleotide variant Inborn genetic diseases [RCV003212522] Chr9:116265876 [GRCh38]
Chr9:119028155 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.1691T>C (p.Ile564Thr) single nucleotide variant Inborn genetic diseases [RCV003218424] Chr9:116211705 [GRCh38]
Chr9:118973984 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.3155G>A (p.Arg1052Gln) single nucleotide variant Inborn genetic diseases [RCV003176223] Chr9:116331251 [GRCh38]
Chr9:119093530 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.1834T>C (p.Cys612Arg) single nucleotide variant Inborn genetic diseases [RCV003210884] Chr9:116211848 [GRCh38]
Chr9:118974127 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.4564G>A (p.Val1522Met) single nucleotide variant Inborn genetic diseases [RCV003305330] Chr9:116367713 [GRCh38]
Chr9:119129992 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.804A>G (p.Ile268Met) single nucleotide variant Inborn genetic diseases [RCV003353600] Chr9:116187542 [GRCh38]
Chr9:118949821 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.1445C>G (p.Thr482Ser) single nucleotide variant Inborn genetic diseases [RCV003350276] Chr9:116188183 [GRCh38]
Chr9:118950462 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.4177C>T (p.Arg1393Trp) single nucleotide variant Inborn genetic diseases [RCV003365162] Chr9:116353623 [GRCh38]
Chr9:119115902 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.3624C>G (p.Phe1208Leu) single nucleotide variant Inborn genetic diseases [RCV003347005] Chr9:116344555 [GRCh38]
Chr9:119106834 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.743A>G (p.Asn248Ser) single nucleotide variant Inborn genetic diseases [RCV003352040] Chr9:116187481 [GRCh38]
Chr9:118949760 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.4678C>A (p.Pro1560Thr) single nucleotide variant Inborn genetic diseases [RCV003381793] Chr9:116382395 [GRCh38]
Chr9:119144674 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.505C>T (p.Arg169Cys) single nucleotide variant Inborn genetic diseases [RCV003353704] Chr9:116187243 [GRCh38]
Chr9:118949522 [GRCh37]
Chr9:9q33.1		 uncertain significance
NM_002581.5(PAPPA):c.4374C>T (p.Cys1458=) single nucleotide variant not provided [RCV003430224] Chr9:116362618 [GRCh38]
Chr9:119124897 [GRCh37]
Chr9:9q33.1		 benign
NM_002581.5(PAPPA):c.345C>T (p.Pro115=) single nucleotide variant not provided [RCV003425769] Chr9:116154517 [GRCh38]
Chr9:118916796 [GRCh37]
Chr9:9q33.1		 likely benign
NM_002581.5(PAPPA):c.4147G>A (p.Val1383Met) single nucleotide variant not provided [RCV003425770] Chr9:116352888 [GRCh38]
Chr9:119115167 [GRCh37]
Chr9:9q33.1		 likely benign
NM_002581.5(PAPPA):c.4777-5T>C single nucleotide variant not provided [RCV003430225] Chr9:116396504 [GRCh38]
Chr9:119158783 [GRCh37]
Chr9:9q33.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2843
Count of miRNA genes:1179
Interacting mature miRNAs:1472
Transcripts:ENST00000328252, ENST00000460463, ENST00000483254, ENST00000534838
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D9S170  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379119,067,379 - 119,067,494UniSTSGRCh37
GRCh379119,067,451 - 119,067,547UniSTSGRCh37
Build 369118,107,200 - 118,107,315RGDNCBI36
Celera989,715,058 - 89,715,173RGD
Celera989,715,130 - 89,715,226UniSTS
Cytogenetic Map9q33.2UniSTS
HuRef988,672,930 - 88,673,045UniSTS
HuRef988,673,002 - 88,673,098UniSTS
Marshfield Genetic Map9124.75UniSTS
Marshfield Genetic Map9124.75RGD
Genethon Genetic Map9125.6UniSTS
TNG Radiation Hybrid Map944865.0UniSTS
deCODE Assembly Map9123.19UniSTS
Whitehead-YAC Contig Map9 UniSTS
WI-11068  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379118,998,150 - 118,998,285UniSTSGRCh37
Build 369118,037,971 - 118,038,106RGDNCBI36
Celera989,645,837 - 89,645,972RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,603,770 - 88,603,905UniSTS
GeneMap99-GB4 RH Map9356.13UniSTS
Whitehead-RH Map9429.1UniSTS
NCBI RH Map9982.7UniSTS
RH65095  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379118,954,533 - 118,954,773UniSTSGRCh37
Build 369117,994,354 - 117,994,594RGDNCBI36
Celera989,602,208 - 89,602,448RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,560,148 - 88,560,388UniSTS
GeneMap99-GB4 RH Map9356.13UniSTS
NCBI RH Map9980.1UniSTS
G30949  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379119,018,051 - 119,018,197UniSTSGRCh37
Build 369118,057,872 - 118,058,018RGDNCBI36
Celera989,665,733 - 89,665,879RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,623,665 - 88,623,811UniSTS
D9S1100  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379119,122,847 - 119,123,072UniSTSGRCh37
Build 369118,162,668 - 118,162,893RGDNCBI36
Celera989,770,527 - 89,770,752RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,728,398 - 88,728,623UniSTS
Whitehead-RH Map9432.3UniSTS
Whitehead-YAC Contig Map9 UniSTS
NCBI RH Map91018.7UniSTS
RH70032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379119,056,889 - 119,057,036UniSTSGRCh37
Build 369118,096,710 - 118,096,857RGDNCBI36
Celera989,704,569 - 89,704,716RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,662,437 - 88,662,584UniSTS
GeneMap99-GB4 RH Map9360.05UniSTS
SHGC-33840  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379119,039,328 - 119,039,457UniSTSGRCh37
Build 369118,079,149 - 118,079,278RGDNCBI36
Celera989,687,010 - 89,687,139RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,644,958 - 88,645,087UniSTS
TNG Radiation Hybrid Map944760.0UniSTS
GeneMap99-GB4 RH Map9355.65UniSTS
Whitehead-RH Map9432.3UniSTS
NCBI RH Map91015.9UniSTS
GeneMap99-G3 RH Map93927.0UniSTS
SHGC-58448  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379118,919,828 - 118,920,097UniSTSGRCh37
Build 369117,959,649 - 117,959,918RGDNCBI36
Celera989,567,505 - 89,567,774RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,525,481 - 88,525,750UniSTS
TNG Radiation Hybrid Map944717.0UniSTS
RH103070  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379119,160,986 - 119,161,164UniSTSGRCh37
Build 369118,200,807 - 118,200,985RGDNCBI36
Celera989,808,677 - 89,808,855RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,766,542 - 88,766,720UniSTS
GeneMap99-GB4 RH Map9355.65UniSTS
RH104018  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379119,022,201 - 119,022,320UniSTSGRCh37
Build 369118,062,022 - 118,062,141RGDNCBI36
Celera989,669,883 - 89,670,002RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,627,818 - 88,627,937UniSTS
GeneMap99-GB4 RH Map9360.35UniSTS
G59672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379118,954,618 - 118,954,745UniSTSGRCh37
Build 369117,994,439 - 117,994,566RGDNCBI36
Celera989,602,293 - 89,602,420RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,560,233 - 88,560,360UniSTS
TNG Radiation Hybrid Map944729.0UniSTS
G60379  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379119,160,357 - 119,160,666UniSTSGRCh37
Build 369118,200,178 - 118,200,487RGDNCBI36
Celera989,808,047 - 89,808,356RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,765,912 - 88,766,221UniSTS
TNG Radiation Hybrid Map944833.0UniSTS
SHGC-132969  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379119,039,016 - 119,039,357UniSTSGRCh37
Build 369118,078,837 - 118,079,178RGDNCBI36
Celera989,686,698 - 89,687,039RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,644,646 - 88,644,987UniSTS
TNG Radiation Hybrid Map944763.0UniSTS
WI-17535  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379119,107,549 - 119,107,698UniSTSGRCh37
Build 369118,147,370 - 118,147,519RGDNCBI36
Celera989,755,232 - 89,755,381RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,713,103 - 88,713,252UniSTS
GeneMap99-GB4 RH Map9360.35UniSTS
Whitehead-RH Map9427.6UniSTS
SHGC-58173  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379119,039,075 - 119,039,296UniSTSGRCh37
Build 369118,078,896 - 118,079,117RGDNCBI36
Celera989,686,757 - 89,686,978RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,644,705 - 88,644,926UniSTS
RH36186  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379118,986,868 - 118,986,974UniSTSGRCh37
Build 369118,026,689 - 118,026,795RGDNCBI36
Celera989,634,554 - 89,634,660RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,592,493 - 88,592,599UniSTS
GeneMap99-GB4 RH Map9360.35UniSTS
NCBI RH Map9999.1UniSTS
WI-18717  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379119,160,644 - 119,160,746UniSTSGRCh37
Build 369118,200,465 - 118,200,567RGDNCBI36
Celera989,808,334 - 89,808,436RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,766,199 - 88,766,301UniSTS
GeneMap99-GB4 RH Map9355.73UniSTS
Whitehead-RH Map9432.2UniSTS
RH12228  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379119,162,062 - 119,162,293UniSTSGRCh37
Build 369118,201,883 - 118,202,114RGDNCBI36
Celera989,809,753 - 89,809,984RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,767,618 - 88,767,849UniSTS
GeneMap99-GB4 RH Map9361.36UniSTS
NCBI RH Map91026.2UniSTS
D9S2044  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379119,158,963 - 119,159,184UniSTSGRCh37
Build 369118,198,784 - 118,199,005RGDNCBI36
Celera989,806,653 - 89,806,874RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,764,518 - 88,764,739UniSTS
Stanford-G3 RH Map94003.0UniSTS
Stanford-G3 RH Map94010.0UniSTS
GeneMap99-GB4 RH Map9361.36UniSTS
Whitehead-RH Map9427.1UniSTS
NCBI RH Map91036.8UniSTS
GeneMap99-G3 RH Map93908.0UniSTS
GeneMap99-G3 RH Map93901.0UniSTS
WI-17377  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379119,164,444 - 119,164,546UniSTSGRCh37
Build 369118,204,265 - 118,204,367RGDNCBI36
Celera989,812,135 - 89,812,237RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,770,000 - 88,770,102UniSTS
GeneMap99-GB4 RH Map9355.62UniSTS
Whitehead-RH Map9430.8UniSTS
RH70083  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379119,010,898 - 119,011,018UniSTSGRCh37
Build 369118,050,719 - 118,050,839RGDNCBI36
Celera989,658,584 - 89,658,704RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,616,518 - 88,616,638UniSTS
GeneMap99-GB4 RH Map9360.35UniSTS
RH77892  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379119,071,144 - 119,071,333UniSTSGRCh37
Build 369118,110,965 - 118,111,154RGDNCBI36
Celera989,718,821 - 89,719,010RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,676,693 - 88,676,882UniSTS
GeneMap99-GB4 RH Map9360.35UniSTS
NCBI RH Map9999.1UniSTS
D6S2261  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379118,993,842 - 118,994,023UniSTSGRCh37
Build 369118,033,663 - 118,033,844RGDNCBI36
Celera989,641,534 - 89,641,699RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,599,467 - 88,599,632UniSTS
Whitehead-YAC Contig Map9 UniSTS
G20523  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379119,164,409 - 119,164,521UniSTSGRCh37
Build 369118,204,230 - 118,204,342RGDNCBI36
Celera989,812,100 - 89,812,212RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,769,965 - 88,770,077UniSTS
A005U45  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379119,164,409 - 119,164,521UniSTSGRCh37
Build 369118,204,230 - 118,204,342RGDNCBI36
Celera989,812,100 - 89,812,212RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,769,965 - 88,770,077UniSTS
GeneMap99-GB4 RH Map9360.86UniSTS
NCBI RH Map91026.2UniSTS
STS-N27098  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379118,951,365 - 118,951,543UniSTSGRCh37
Build 369117,991,186 - 117,991,364RGDNCBI36
Celera989,599,040 - 89,599,218RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,556,980 - 88,557,158UniSTS
GeneMap99-GB4 RH Map9360.05UniSTS
D9S322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379119,142,442 - 119,142,645UniSTSGRCh37
Build 369118,182,263 - 118,182,466RGDNCBI36
Celera989,790,131 - 89,790,334RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,748,003 - 88,748,206UniSTS
Stanford-G3 RH Map94019.0UniSTS
Whitehead-YAC Contig Map9 UniSTS
NCBI RH Map91040.9UniSTS
RH36503  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379119,161,780 - 119,161,980UniSTSGRCh37
Build 369118,201,601 - 118,201,801RGDNCBI36
Celera989,809,471 - 89,809,671RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,767,336 - 88,767,536UniSTS
GeneMap99-GB4 RH Map9360.86UniSTS
NCBI RH Map91026.2UniSTS
RH68484  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379119,044,887 - 119,045,029UniSTSGRCh37
Build 369118,084,708 - 118,084,850RGDNCBI36
Celera989,692,569 - 89,692,711RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,650,517 - 88,650,659UniSTS
GeneMap99-GB4 RH Map9360.05UniSTS
RH16442  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379118,999,940 - 119,000,074UniSTSGRCh37
Build 369118,039,761 - 118,039,895RGDNCBI36
Celera989,647,626 - 89,647,760RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,605,560 - 88,605,694UniSTS
GeneMap99-GB4 RH Map9360.35UniSTS
NCBI RH Map9999.1UniSTS
D9S1971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379119,160,350 - 119,160,673UniSTSGRCh37
Build 369118,200,171 - 118,200,494RGDNCBI36
Celera989,808,040 - 89,808,363RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,765,905 - 88,766,228UniSTS
GeneMap99-GB4 RH Map9360.86UniSTS
Whitehead-RH Map9426.0UniSTS
Whitehead-YAC Contig Map9 UniSTS
NCBI RH Map91026.2UniSTS
RH66018  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379119,133,769 - 119,133,929UniSTSGRCh37
Build 369118,173,590 - 118,173,750RGDNCBI36
Celera989,781,456 - 89,781,616RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,739,331 - 88,739,491UniSTS
GeneMap99-GB4 RH Map9361.36UniSTS
NCBI RH Map91018.7UniSTS
STS-H01310  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379119,163,520 - 119,163,708UniSTSGRCh37
Build 369118,203,341 - 118,203,529RGDNCBI36
Celera989,811,211 - 89,811,399RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,769,076 - 88,769,264UniSTS
GeneMap99-GB4 RH Map9360.86UniSTS
NCBI RH Map91026.2UniSTS
RH69976  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379119,159,818 - 119,160,007UniSTSGRCh37
Build 369118,199,639 - 118,199,828RGDNCBI36
Celera989,807,508 - 89,807,697RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,765,373 - 88,765,562UniSTS
GeneMap99-GB4 RH Map9360.86UniSTS
NCBI RH Map91026.2UniSTS
G20791  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379119,160,501 - 119,160,605UniSTSGRCh37
Build 369118,200,322 - 118,200,426RGDNCBI36
Celera989,808,191 - 89,808,295RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,766,056 - 88,766,160UniSTS
A006G27  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379119,160,501 - 119,160,605UniSTSGRCh37
Build 369118,200,322 - 118,200,426RGDNCBI36
Celera989,808,191 - 89,808,295RGD
Cytogenetic Map9q33.2UniSTS
HuRef988,766,056 - 88,766,160UniSTS
GeneMap99-GB4 RH Map9360.86UniSTS
NCBI RH Map91026.2UniSTS
MARC_28473-28474:1042818764:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379118,949,743 - 118,950,411UniSTSGRCh37
Build 369117,989,564 - 117,990,232RGDNCBI36
Celera989,597,418 - 89,598,086RGD
HuRef988,555,358 - 88,556,026UniSTS
D9S170  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q33.2UniSTS
TNG Radiation Hybrid Map944865.0UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 35 36 22 4 2 4 46 35 49 27 51 88 1 93 24 3
Low 2091 1892 1114 172 268 74 3360 1128 945 290 1249 1358 106 1091 1999
Below cutoff 244 816 549 412 1134 350 930 1024 2684 91 120 131 64 20 765

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_002581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF085834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF085855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ420429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ420467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL691426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU134599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU139179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY140907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY189937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY302185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY623010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY623013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC054010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC057782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC078657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG572566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG622932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG623020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU158714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BY795841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB960120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB988079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB989873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC007206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R75872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  W04151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X68280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000328252   ⟹   ENSP00000330658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9116,153,791 - 116,402,321 (+)Ensembl
RefSeq Acc Id: ENST00000460463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9116,332,432 - 116,335,074 (+)Ensembl
RefSeq Acc Id: ENST00000483254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9116,373,199 - 116,396,616 (+)Ensembl
RefSeq Acc Id: NM_002581   ⟹   NP_002572
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389116,153,791 - 116,402,321 (+)NCBI
GRCh379118,916,071 - 119,164,600 (+)ENTREZGENE
Build 369117,955,892 - 118,204,421 (+)NCBI Archive
HuRef988,522,043 - 88,770,156 (+)ENTREZGENE
CHM1_19119,062,528 - 119,311,011 (+)NCBI
T2T-CHM13v2.09128,346,843 - 128,595,327 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006717129   ⟹   XP_006717192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389116,220,015 - 116,402,321 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017014784   ⟹   XP_016870273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389116,153,791 - 116,402,321 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054363045   ⟹   XP_054219020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09128,346,843 - 128,595,327 (+)NCBI
RefSeq Acc Id: XM_054363046   ⟹   XP_054219021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09128,413,085 - 128,595,327 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_002572   ⟸   NM_002581
- Peptide Label: preproprotein
- UniProtKB: Q68G52 (UniProtKB/Swiss-Prot),   Q08371 (UniProtKB/Swiss-Prot),   B1AMF9 (UniProtKB/Swiss-Prot),   Q9UDK7 (UniProtKB/Swiss-Prot),   Q13219 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006717192   ⟸   XM_006717129
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016870273   ⟸   XM_017014784
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000330658   ⟸   ENST00000328252
RefSeq Acc Id: XP_054219020   ⟸   XM_054363045
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219021   ⟸   XM_054363046
- Peptide Label: isoform X2
Protein Domains
Sushi

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13219-F1-model_v2 AlphaFold Q13219 1-1627 view protein structure

Promoters
RGD ID:7215997
Promoter ID:EPDNEW_H13745
Type:initiation region
Name:PAPPA_3
Description:pappalysin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13744  EPDNEW_H13746  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389116,153,522 - 116,153,582EPDNEW
RGD ID:7216001
Promoter ID:EPDNEW_H13746
Type:initiation region
Name:PAPPA_1
Description:pappalysin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13745  EPDNEW_H13744  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389116,153,791 - 116,153,851EPDNEW
RGD ID:6807947
Promoter ID:HG_KWN:64680
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000055546
Position:
Human AssemblyChrPosition (strand)Source
Build 369117,956,331 - 117,956,831 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8602 AgrOrtholog
COSMIC PAPPA COSMIC
Ensembl Genes ENSG00000182752 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000328252 ENTREZGENE
  ENST00000328252.4 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.120.200 UniProtKB/Swiss-Prot
  3.40.390.10 UniProtKB/Swiss-Prot
  Complement Module, domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000182752 GTEx
HGNC ID HGNC:8602 ENTREZGENE
Human Proteome Map PAPPA Human Proteome Map
InterPro ConA-like_dom_sf UniProtKB/Swiss-Prot
  LamG-like UniProtKB/Swiss-Prot
  MetalloPept_cat_dom_sf UniProtKB/Swiss-Prot
  Myxo_disulph_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Notch_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAPPA/PAPPA2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M43 UniProtKB/Swiss-Prot
  Sushi/SCR/CCP_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi_SCR_CCP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5069 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5069 ENTREZGENE
OMIM 176385 OMIM
PANTHER PTHR46130 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR46130:SF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Laminin_G_3 UniProtKB/Swiss-Prot
  Peptidase_M43 UniProtKB/Swiss-Prot
  Sushi UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32935 PharmGKB
PROSITE SUSHI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_PROTEASE UniProtKB/Swiss-Prot
SMART CCP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LamGL UniProtKB/Swiss-Prot
  SM00004 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Metalloproteases ('zincins'), catalytic domain UniProtKB/Swiss-Prot
  SSF49899 UniProtKB/Swiss-Prot
  SSF57535 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B1AMF9 ENTREZGENE
  B4DTA8_HUMAN UniProtKB/TrEMBL
  PAPP1_HUMAN UniProtKB/Swiss-Prot
  Q08371 ENTREZGENE
  Q13219 ENTREZGENE
  Q5QFB7_HUMAN UniProtKB/TrEMBL
  Q68G52 ENTREZGENE
  Q7Z613_HUMAN UniProtKB/TrEMBL
  Q9UDK7 ENTREZGENE
UniProt Secondary B1AMF9 UniProtKB/Swiss-Prot
  Q08371 UniProtKB/Swiss-Prot
  Q68G52 UniProtKB/Swiss-Prot
  Q9UDK7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-04 PAPPA  pappalysin 1  PAPPA  pregnancy-associated plasma protein A, pappalysin 1  Symbol and/or name change 5135510 APPROVED