THOP1 (thimet oligopeptidase 1) - Rat Genome Database

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Gene: THOP1 (thimet oligopeptidase 1) Homo sapiens
Analyze
Symbol: THOP1
Name: thimet oligopeptidase 1
RGD ID: 68460
HGNC Page HGNC:11793
Description: Predicted to enable metalloendopeptidase activity. Predicted to be involved in peptide catabolic process and proteolysis. Predicted to act upstream of or within intracellular signal transduction. Predicted to be located in cytosol. Predicted to be active in mitochondrial intermembrane space.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: endopeptidase 24.15; EP24.15; MEPD_HUMAN; MP78; thimet oligopeptidase; TOP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38192,785,503 - 2,815,807 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl192,785,503 - 2,815,807 (+)EnsemblGRCh38hg38GRCh38
GRCh37192,785,501 - 2,815,805 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36192,736,506 - 2,764,599 (+)NCBINCBI36Build 36hg18NCBI36
Build 34192,736,505 - 2,764,598NCBI
Celera192,721,390 - 2,749,643 (+)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef192,554,996 - 2,583,295 (+)NCBIHuRef
CHM1_1192,785,096 - 2,813,188 (+)NCBICHM1_1
T2T-CHM13v2.0192,760,790 - 2,791,094 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2,5-hexanedione  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-amino-2,6-dinitrotoluene  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (ISO)
Benzo[k]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
bleomycin A2  (ISO)
Brodifacoum  (ISO)
capsaicin  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chromium(6+)  (EXP,ISO)
clofibric acid  (ISO)
cobalt dichloride  (EXP)
cocaine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
enzyme inhibitor  (EXP)
ethanol  (EXP)
fenvalerate  (ISO)
flutamide  (ISO)
folic acid  (ISO)
hydrogen cyanide  (ISO)
indole-3-methanol  (ISO)
indometacin  (EXP)
ivermectin  (EXP)
lead(0)  (EXP)
lovastatin  (ISO)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (EXP)
N-nitrosodiethylamine  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP)
potassium cyanide  (ISO)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trimellitic anhydride  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
warfarin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7639763   PMID:8286339   PMID:8373360   PMID:8824811   PMID:8889548   PMID:9790774   PMID:10415366   PMID:10504294   PMID:10541437   PMID:10969067   PMID:10993116   PMID:11479311  
PMID:12477932   PMID:12502762   PMID:12648459   PMID:14702039   PMID:14998993   PMID:15057824   PMID:15231747   PMID:15328361   PMID:15376229   PMID:15489334   PMID:17251185   PMID:18571100  
PMID:19282285   PMID:19614740   PMID:21151101   PMID:21873635   PMID:22796113   PMID:22863883   PMID:22939629   PMID:23708739   PMID:24223886   PMID:24604581   PMID:24797263   PMID:24981860  
PMID:25180910   PMID:25416956   PMID:25640309   PMID:25921289   PMID:26344197   PMID:27684187   PMID:28148290   PMID:28514442   PMID:28515276   PMID:28611215   PMID:28675297   PMID:30021884  
PMID:30575818   PMID:30809309   PMID:30884312   PMID:31723608   PMID:31839598   PMID:32296183   PMID:32814053   PMID:32847123   PMID:33545068   PMID:33961781   PMID:34349018   PMID:35509820  
PMID:35563538   PMID:35831314   PMID:35914814   PMID:36215168   PMID:36261009   PMID:36997147   PMID:37827155   PMID:38113892   PMID:38334954  


Genomics

Comparative Map Data
THOP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38192,785,503 - 2,815,807 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl192,785,503 - 2,815,807 (+)EnsemblGRCh38hg38GRCh38
GRCh37192,785,501 - 2,815,805 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36192,736,506 - 2,764,599 (+)NCBINCBI36Build 36hg18NCBI36
Build 34192,736,505 - 2,764,598NCBI
Celera192,721,390 - 2,749,643 (+)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef192,554,996 - 2,583,295 (+)NCBIHuRef
CHM1_1192,785,096 - 2,813,188 (+)NCBICHM1_1
T2T-CHM13v2.0192,760,790 - 2,791,094 (+)NCBIT2T-CHM13v2.0
Thop1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391080,905,917 - 80,918,194 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1080,905,869 - 80,918,393 (+)EnsemblGRCm39 Ensembl
GRCm381081,070,083 - 81,082,360 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1081,070,035 - 81,082,559 (+)EnsemblGRCm38mm10GRCm38
MGSCv371080,532,828 - 80,545,105 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361080,473,279 - 80,485,687 (+)NCBIMGSCv36mm8
Celera1082,090,182 - 82,102,459 (+)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.72NCBI
Thop1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr879,283,617 - 9,295,957 (-)NCBIGRCr8
mRatBN7.278,632,911 - 8,645,339 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl78,632,916 - 8,645,275 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx711,517,596 - 11,530,108 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0713,393,093 - 13,405,605 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0711,259,596 - 11,272,104 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0711,501,145 - 11,513,576 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl711,501,146 - 11,513,581 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0711,668,512 - 11,680,946 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4710,116,822 - 10,129,162 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1710,116,821 - 10,129,088 (-)NCBI
Celera76,820,402 - 6,832,744 (-)NCBICelera
Cytogenetic Map7q11NCBI
Thop1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554955,054,986 - 5,071,279 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554955,055,389 - 5,070,710 (+)NCBIChiLan1.0ChiLan1.0
THOP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2207,179,830 - 7,209,333 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1196,412,831 - 6,442,294 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0191,810,316 - 1,839,523 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1192,765,550 - 2,793,235 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl192,765,550 - 2,793,235 (+)Ensemblpanpan1.1panPan2
THOP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12056,412,578 - 56,432,480 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2056,412,908 - 56,432,446 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2056,208,964 - 56,228,856 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02057,146,032 - 57,165,932 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2057,146,042 - 57,165,951 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12056,199,077 - 56,218,944 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02056,683,949 - 56,703,847 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02056,884,291 - 56,904,201 (-)NCBIUU_Cfam_GSD_1.0
Thop1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118216,196,995 - 216,216,192 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365881,618,541 - 1,637,821 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365881,618,585 - 1,637,788 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
THOP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl275,853,429 - 75,877,494 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1275,857,788 - 75,877,430 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2276,370,019 - 76,389,661 (-)NCBISscrofa10.2Sscrofa10.2susScr3
THOP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.162,564,445 - 2,590,029 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660816,013,877 - 6,039,353 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Thop1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248285,857,846 - 5,873,462 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248285,857,667 - 5,873,055 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in THOP1
77 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3 copy number gain See cases [RCV000052878] Chr19:1565575..4108128 [GRCh38]
Chr19:1565574..4108126 [GRCh37]
Chr19:1516574..4059126 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 copy number gain See cases [RCV000052575] Chr19:233565..4699472 [GRCh38]
Chr19:233565..4699484 [GRCh37]
Chr19:184565..4650484 [NCBI36]
Chr19:19p13.3		 pathogenic
NM_003249.3(THOP1):c.619C>T (p.Leu207=) single nucleotide variant Malignant melanoma [RCV000072050] Chr19:2805045 [GRCh38]
Chr19:2805043 [GRCh37]
Chr19:2756043 [NCBI36]
Chr19:19p13.3		 not provided
GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1 copy number loss See cases [RCV000134795] Chr19:1549144..4288720 [GRCh38]
Chr19:1549143..4288717 [GRCh37]
Chr19:1500143..4239717 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:421537-2897921)x3 copy number gain See cases [RCV000134894] Chr19:421537..2897921 [GRCh38]
Chr19:421537..2897919 [GRCh37]
Chr19:372537..2848919 [NCBI36]
Chr19:19p13.3		 likely pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:2652901-4342179)x3 copy number gain See cases [RCV000448078] Chr19:2652901..4342179 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1112G>A (p.Gly371Asp) single nucleotide variant not specified [RCV004310088] Chr19:2807667 [GRCh38]
Chr19:2807665 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3(chr19:259395-3152419) copy number gain Global developmental delay [RCV000626520] Chr19:259395..3152419 [GRCh37]
Chr19:19p13.3		 likely pathogenic
GRCh37/hg19 19p13.3(chr19:260911-3200875)x3 copy number gain not provided [RCV000684094] Chr19:260911..3200875 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
Single allele deletion Internal malformations [RCV000787421] Chr19:2229488..4004142 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.1406030_3597207dup duplication Neurodevelopmental disorder [RCV000787423] Chr19:1406030..3597207 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.224A>G (p.Tyr75Cys) single nucleotide variant not specified [RCV004294821] Chr19:2790628 [GRCh38]
Chr19:2790626 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1021A>G (p.Met341Val) single nucleotide variant not specified [RCV004289868] Chr19:2807576 [GRCh38]
Chr19:2807574 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:2389731-2925532)x1 copy number loss not provided [RCV000848937] Chr19:2389731..2925532 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 copy number gain not provided [RCV000846988] Chr19:260911..4788357 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_003249.5(THOP1):c.1874C>T (p.Thr625Met) single nucleotide variant not specified [RCV004283951] Chr19:2811700 [GRCh38]
Chr19:2811698 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3 copy number gain See cases [RCV001007443] Chr19:260912..4384674 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:260911-3501271)x3 copy number gain not provided [RCV001007025] Chr19:260911..3501271 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:2273150-2897133)x3 copy number gain See cases [RCV001194584] Chr19:2273150..2897133 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589946)_(5696788_?)dup duplication not provided [RCV003113597] Chr19:589946..5696788 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589946)_(4818389_?)dup duplication not provided [RCV003105391] Chr19:589946..4818389 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_1206913)_(3771740_?)dup duplication not provided [RCV003154903] Chr19:1206913..3771740 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.875C>T (p.Ala292Val) single nucleotide variant not specified [RCV004142142] Chr19:2807041 [GRCh38]
Chr19:2807039 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.910C>A (p.Pro304Thr) single nucleotide variant not specified [RCV004141987] Chr19:2807465 [GRCh38]
Chr19:2807463 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.344G>C (p.Arg115Thr) single nucleotide variant not specified [RCV004159739] Chr19:2794878 [GRCh38]
Chr19:2794876 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1597C>T (p.Arg533Trp) single nucleotide variant not specified [RCV004118571] Chr19:2810445 [GRCh38]
Chr19:2810443 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.40G>A (p.Ala14Thr) single nucleotide variant not specified [RCV004154093] Chr19:2790444 [GRCh38]
Chr19:2790442 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1412A>T (p.Tyr471Phe) single nucleotide variant not specified [RCV004193456] Chr19:2808401 [GRCh38]
Chr19:2808399 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.934G>A (p.Val312Met) single nucleotide variant not specified [RCV004202899] Chr19:2807489 [GRCh38]
Chr19:2807487 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1042C>T (p.Arg348Cys) single nucleotide variant not specified [RCV004220052] Chr19:2807597 [GRCh38]
Chr19:2807595 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.499A>T (p.Ile167Phe) single nucleotide variant not specified [RCV004133028] Chr19:2799701 [GRCh38]
Chr19:2799699 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.943G>A (p.Glu315Lys) single nucleotide variant not specified [RCV004205333] Chr19:2807498 [GRCh38]
Chr19:2807496 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.575C>T (p.Thr192Met) single nucleotide variant not specified [RCV004129114] Chr19:2799777 [GRCh38]
Chr19:2799775 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.896C>T (p.Ala299Val) single nucleotide variant not specified [RCV004205245] Chr19:2807451 [GRCh38]
Chr19:2807449 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1174G>A (p.Glu392Lys) single nucleotide variant not specified [RCV004137951] Chr19:2807729 [GRCh38]
Chr19:2807727 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1991G>A (p.Arg664His) single nucleotide variant not specified [RCV004166025] Chr19:2813197 [GRCh38]
Chr19:2813195 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1676A>G (p.Lys559Arg) single nucleotide variant not specified [RCV004213332] Chr19:2810673 [GRCh38]
Chr19:2810671 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.953G>A (p.Arg318His) single nucleotide variant not specified [RCV004122465] Chr19:2807508 [GRCh38]
Chr19:2807506 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.998G>A (p.Arg333His) single nucleotide variant not specified [RCV004113135] Chr19:2807553 [GRCh38]
Chr19:2807551 [GRCh37]
Chr19:19p13.3		 likely benign
NM_003249.5(THOP1):c.863G>A (p.Ser288Asn) single nucleotide variant not specified [RCV004201400] Chr19:2807029 [GRCh38]
Chr19:2807027 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.416C>T (p.Ala139Val) single nucleotide variant not specified [RCV004229245] Chr19:2796118 [GRCh38]
Chr19:2796116 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1567C>T (p.Arg523Trp) single nucleotide variant not specified [RCV004168151] Chr19:2810415 [GRCh38]
Chr19:2810413 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1756G>T (p.Val586Phe) single nucleotide variant not specified [RCV004179187] Chr19:2810753 [GRCh38]
Chr19:2810751 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.397T>C (p.Ser133Pro) single nucleotide variant not specified [RCV004148353] Chr19:2796099 [GRCh38]
Chr19:2796097 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.325G>A (p.Asp109Asn) single nucleotide variant not specified [RCV004241389] Chr19:2794859 [GRCh38]
Chr19:2794857 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1508C>T (p.Ala503Val) single nucleotide variant not specified [RCV004225837] Chr19:2810356 [GRCh38]
Chr19:2810354 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.871G>A (p.Val291Met) single nucleotide variant not specified [RCV004171840] Chr19:2807037 [GRCh38]
Chr19:2807035 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.208G>A (p.Asp70Asn) single nucleotide variant not specified [RCV004213577] Chr19:2790612 [GRCh38]
Chr19:2790610 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.967C>T (p.Arg323Cys) single nucleotide variant not specified [RCV004220296] Chr19:2807522 [GRCh38]
Chr19:2807520 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1537T>C (p.Trp513Arg) single nucleotide variant not specified [RCV004287070] Chr19:2810385 [GRCh38]
Chr19:2810383 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1697C>G (p.Thr566Arg) single nucleotide variant not specified [RCV004273942] Chr19:2810694 [GRCh38]
Chr19:2810692 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1454A>T (p.Gln485Leu) single nucleotide variant not specified [RCV004253516] Chr19:2808443 [GRCh38]
Chr19:2808441 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.2020A>C (p.Ser674Arg) single nucleotide variant not specified [RCV004266548] Chr19:2813226 [GRCh38]
Chr19:2813224 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1794C>G (p.Phe598Leu) single nucleotide variant not specified [RCV004249109] Chr19:2811620 [GRCh38]
Chr19:2811618 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.220A>G (p.Thr74Ala) single nucleotide variant not specified [RCV004266120] Chr19:2790624 [GRCh38]
Chr19:2790622 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.74G>A (p.Arg25Gln) single nucleotide variant not specified [RCV004261637] Chr19:2790478 [GRCh38]
Chr19:2790476 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1783C>T (p.Pro595Ser) single nucleotide variant not specified [RCV004327895] Chr19:2811609 [GRCh38]
Chr19:2811607 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.952C>T (p.Arg318Cys) single nucleotide variant not specified [RCV004342190] Chr19:2807507 [GRCh38]
Chr19:2807505 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.2051C>T (p.Pro684Leu) single nucleotide variant not specified [RCV004341732] Chr19:2813257 [GRCh38]
Chr19:2813255 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1297G>A (p.Gly433Ser) single nucleotide variant not specified [RCV004339588] Chr19:2808286 [GRCh38]
Chr19:2808284 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3 copy number gain not provided [RCV003485190] Chr19:260912..7246777 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
NM_003249.5(THOP1):c.1048T>C (p.Cys350Arg) single nucleotide variant THOP1-related disorder [RCV003916827] Chr19:2807603 [GRCh38]
Chr19:2807601 [GRCh37]
Chr19:19p13.3		 likely benign
NM_003249.5(THOP1):c.448C>T (p.Arg150Trp) single nucleotide variant not specified [RCV004466960] Chr19:2796150 [GRCh38]
Chr19:2796148 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.2047G>A (p.Glu683Lys) single nucleotide variant not specified [RCV004466959] Chr19:2813253 [GRCh38]
Chr19:2813251 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1097C>T (p.Thr366Met) single nucleotide variant not specified [RCV004365028] Chr19:2807652 [GRCh38]
Chr19:2807650 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1159G>A (p.Ala387Thr) single nucleotide variant not specified [RCV004466952] Chr19:2807714 [GRCh38]
Chr19:2807712 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1337C>T (p.Ala446Val) single nucleotide variant not specified [RCV004466953] Chr19:2808326 [GRCh38]
Chr19:2808324 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1696A>C (p.Thr566Pro) single nucleotide variant not specified [RCV004466955] Chr19:2810693 [GRCh38]
Chr19:2810691 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1838T>C (p.Leu613Pro) single nucleotide variant not specified [RCV004466957] Chr19:2811664 [GRCh38]
Chr19:2811662 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.740G>A (p.Arg247Gln) single nucleotide variant not specified [RCV004466961] Chr19:2805166 [GRCh38]
Chr19:2805164 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1442A>G (p.Gln481Arg) single nucleotide variant not specified [RCV004466954] Chr19:2808431 [GRCh38]
Chr19:2808429 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.745A>G (p.Lys249Glu) single nucleotide variant not specified [RCV004466962] Chr19:2805171 [GRCh38]
Chr19:2805169 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1733G>A (p.Arg578Gln) single nucleotide variant not specified [RCV004466956] Chr19:2810730 [GRCh38]
Chr19:2810728 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_2430909)_(4171966_?)del deletion RASopathy [RCV004581149] Chr19:2430909..4171966 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_2430909)_(3121177_?)dup duplication Progressive myoclonic epilepsy type 9 [RCV004581126] Chr19:2430909..3121177 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.581A>G (p.Gln194Arg) single nucleotide variant not specified [RCV004668590] Chr19:2799783 [GRCh38]
Chr19:2799781 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1598G>A (p.Arg533Gln) single nucleotide variant not specified [RCV004668588] Chr19:2810446 [GRCh38]
Chr19:2810444 [GRCh37]
Chr19:19p13.3		 likely benign
NM_003249.5(THOP1):c.1225G>C (p.Gly409Arg) single nucleotide variant not specified [RCV004668591] Chr19:2807780 [GRCh38]
Chr19:2807778 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1184G>A (p.Arg395Gln) single nucleotide variant not specified [RCV004668589] Chr19:2807739 [GRCh38]
Chr19:2807737 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260912-2934171)x3 copy number gain not provided [RCV004819320] Chr19:260912..2934171 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_003249.5(THOP1):c.694C>T (p.His232Tyr) single nucleotide variant not specified [RCV004869821] Chr19:2805120 [GRCh38]
Chr19:2805118 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.964G>A (p.Glu322Lys) single nucleotide variant not specified [RCV004869823] Chr19:2807519 [GRCh38]
Chr19:2807517 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1708G>A (p.Ala570Thr) single nucleotide variant not specified [RCV004869824] Chr19:2810705 [GRCh38]
Chr19:2810703 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1627C>T (p.Arg543Trp) single nucleotide variant not specified [RCV004869825] Chr19:2810475 [GRCh38]
Chr19:2810473 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.272C>T (p.Ser91Phe) single nucleotide variant not specified [RCV004869826] Chr19:2794806 [GRCh38]
Chr19:2794804 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.129G>C (p.Gln43His) single nucleotide variant not specified [RCV004869827] Chr19:2790533 [GRCh38]
Chr19:2790531 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1816G>A (p.Asp606Asn) single nucleotide variant not specified [RCV004869828] Chr19:2811642 [GRCh38]
Chr19:2811640 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1619T>C (p.Ile540Thr) single nucleotide variant not specified [RCV004869829] Chr19:2810467 [GRCh38]
Chr19:2810465 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1966G>A (p.Ala656Thr) single nucleotide variant not specified [RCV004869830] Chr19:2813172 [GRCh38]
Chr19:2813170 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1030G>C (p.Val344Leu) single nucleotide variant not specified [RCV004869831] Chr19:2807585 [GRCh38]
Chr19:2807583 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1876C>T (p.Arg626Cys) single nucleotide variant not specified [RCV004869832] Chr19:2811702 [GRCh38]
Chr19:2811700 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1685A>G (p.Gln562Arg) single nucleotide variant not specified [RCV004869833] Chr19:2810682 [GRCh38]
Chr19:2810680 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.631G>C (p.Glu211Gln) single nucleotide variant not specified [RCV004869834] Chr19:2805057 [GRCh38]
Chr19:2805055 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1850T>C (p.Val617Ala) single nucleotide variant not specified [RCV004676858] Chr19:2811676 [GRCh38]
Chr19:2811674 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_003249.5(THOP1):c.1717G>A (p.Ala573Thr) single nucleotide variant not specified [RCV004676857] Chr19:2810714 [GRCh38]
Chr19:2810712 [GRCh37]
Chr19:19p13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5377
Count of miRNA genes:972
Interacting mature miRNAs:1234
Transcripts:ENST00000307741, ENST00000395212, ENST00000585338, ENST00000585673, ENST00000586677, ENST00000586780, ENST00000587401, ENST00000587468, ENST00000589087, ENST00000590533, ENST00000590970, ENST00000591149, ENST00000591363, ENST00000592639
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406963265GWAS612241_Htotal cholesterol measurement QTL GWAS612241 (human)8e-08total cholesterol measurementblood total cholesterol level (CMO:0000051)1928141832814184Human
597095959GWAS1192033_Hsex hormone-binding globulin measurement QTL GWAS1192033 (human)9e-101sex hormone-binding globulin measurement1927931962793197Human
597475358GWAS1571432_Hplatelet crit QTL GWAS1571432 (human)2e-14platelet critplateletcrit (CMO:0001349)1928121552812156Human
597194652GWAS1290726_Hfree androgen index QTL GWAS1290726 (human)3e-15free androgen index1927931962793197Human
597105298GWAS1201372_Hsex hormone-binding globulin measurement QTL GWAS1201372 (human)9e-48sex hormone-binding globulin measurement1927867652786769Human
597087644GWAS1183718_Hplatelet count QTL GWAS1183718 (human)5e-16platelet quantity (VT:0003179)platelet count (CMO:0000029)1927955182795519Human
597189781GWAS1285855_Hsex hormone-binding globulin measurement QTL GWAS1285855 (human)9e-49sex hormone-binding globulin measurement1928141832814184Human
597212172GWAS1308246_Hlow density lipoprotein cholesterol measurement QTL GWAS1308246 (human)5e-10low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1928141832814184Human
597281806GWAS1377880_Hsex hormone-binding globulin measurement QTL GWAS1377880 (human)2e-16sex hormone-binding globulin measurement1927923452792346Human
597189636GWAS1285710_Htestosterone measurement QTL GWAS1285710 (human)2e-19testosterone measurementserum testosterone level (CMO:0000568)1927916262791627Human
597316538GWAS1412612_Htestosterone measurement QTL GWAS1412612 (human)4e-09testosterone measurementserum testosterone level (CMO:0000568)1927955182795519Human
597281593GWAS1377667_Hsex hormone-binding globulin measurement QTL GWAS1377667 (human)1e-10sex hormone-binding globulin measurement1928112952811296Human
597066294GWAS1162368_Htotal cholesterol measurement QTL GWAS1162368 (human)2e-08total cholesterol measurementblood total cholesterol level (CMO:0000051)1928141832814184Human
1643451SLIPL6_HSerum lipid level QTL 6 (human)2.190.0008Lipid level19116075902Human
597189306GWAS1285380_Hfree androgen index QTL GWAS1285380 (human)2e-13free androgen index1927863992786400Human
597192506GWAS1288580_Htestosterone measurement QTL GWAS1288580 (human)3e-09testosterone measurementserum testosterone level (CMO:0000568)1927865592786560Human
597079349GWAS1175423_Hplatelet count QTL GWAS1175423 (human)3e-14platelet quantity (VT:0003179)platelet count (CMO:0000029)1927867282786729Human
597614774GWAS1671634_Hplatelet count QTL GWAS1671634 (human)1e-11platelet quantity (VT:0003179)platelet count (CMO:0000029)1928020942802095Human
597280945GWAS1377019_Hsex hormone-binding globulin measurement QTL GWAS1377019 (human)5e-25sex hormone-binding globulin measurement1928032292803230Human
597098297GWAS1194371_Htestosterone measurement QTL GWAS1194371 (human)7e-24testosterone measurementserum testosterone level (CMO:0000568)1927920362792037Human
597280680GWAS1376754_Hsex hormone-binding globulin measurement QTL GWAS1376754 (human)7e-14sex hormone-binding globulin measurement1927960232796024Human
597279531GWAS1375605_Htestosterone measurement QTL GWAS1375605 (human)4e-11testosterone measurementserum testosterone level (CMO:0000568)1927923452792346Human
597099297GWAS1195371_Hsex hormone-binding globulin measurement QTL GWAS1195371 (human)6e-41sex hormone-binding globulin measurement1927893392789340Human
597423522GWAS1519596_Htestosterone measurement QTL GWAS1519596 (human)3e-10testosterone measurementserum testosterone level (CMO:0000568)1928065762806577Human
597492263GWAS1588337_Hsex hormone-binding globulin measurement QTL GWAS1588337 (human)2e-14sex hormone-binding globulin measurement1928065762806577Human
597020079GWAS1116153_Hlow density lipoprotein cholesterol measurement QTL GWAS1116153 (human)0.000001low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1928141832814184Human
597322918GWAS1418992_Hlevel of thimet oligopeptidase in blood serum QTL GWAS1418992 (human)4e-20level of thimet oligopeptidase in blood serum1927863992786400Human
597106603GWAS1202677_Htestosterone measurement QTL GWAS1202677 (human)4e-14testosterone measurementserum testosterone level (CMO:0000568)1928001942800195Human
597105706GWAS1201780_Hsex hormone-binding globulin measurement QTL GWAS1201780 (human)1e-60sex hormone-binding globulin measurement1927867652786769Human
1298476BP3_HBlood pressure QTL 3 (human)2.4Blood pressuresystolic19116075902Human
597257894GWAS1353968_Hnon-high density lipoprotein cholesterol measurement QTL GWAS1353968 (human)5e-13non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)1927999812799982Human
597041236GWAS1137310_Hlow density lipoprotein cholesterol measurement QTL GWAS1137310 (human)3e-09low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1928020942802095Human
597428959GWAS1525033_Hplatelet count QTL GWAS1525033 (human)4e-12platelet quantity (VT:0003179)platelet count (CMO:0000029)1928121552812156Human
597279069GWAS1375143_Hsex hormone-binding globulin measurement QTL GWAS1375143 (human)1e-08sex hormone-binding globulin measurement1927867282786729Human
1581534BP76_HBlood pressure QTL 76 (human)20.001Blood pressurepulse pressure19116075902Human
597256159GWAS1352233_Htotal cholesterol measurement QTL GWAS1352233 (human)9e-31total cholesterol measurementblood total cholesterol level (CMO:0000051)1927931962793197Human
1581535BP65_HBlood pressure QTL 65 (human)3.10.001Blood pressurepulse pressure19116075902Human
597156575GWAS1252649_Hsex hormone-binding globulin measurement QTL GWAS1252649 (human)0.000002sex hormone-binding globulin measurement1927867652786769Human
1298499UAE1_HUrinary albumin excretion QTL 1 (human)2.730.0009Urinary albumin excretionurine albumin:creatinine ratio (ACR)19116075902Human
597192012GWAS1288086_Hsex hormone-binding globulin measurement QTL GWAS1288086 (human)1e-37sex hormone-binding globulin measurement1927916262791627Human
597102538GWAS1198612_Hlow density lipoprotein cholesterol measurement QTL GWAS1198612 (human)4e-11low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1928032292803230Human
597098487GWAS1194561_Htestosterone measurement QTL GWAS1194561 (human)5e-16testosterone measurementserum testosterone level (CMO:0000568)1927925682792569Human
597276272GWAS1372346_Hlow density lipoprotein cholesterol measurement QTL GWAS1372346 (human)3e-24low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1927893392789340Human
597324016GWAS1420090_Hlow density lipoprotein cholesterol measurement QTL GWAS1420090 (human)1e-18low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1927916262791627Human
597098106GWAS1194180_Hsex hormone-binding globulin measurement QTL GWAS1194180 (human)2e-85sex hormone-binding globulin measurement1927931962793197Human
597312619GWAS1408693_Htotal cholesterol measurement QTL GWAS1408693 (human)1e-10total cholesterol measurementblood total cholesterol level (CMO:0000051)1928096742809675Human
597100388GWAS1196462_Hsex hormone-binding globulin measurement QTL GWAS1196462 (human)2e-45sex hormone-binding globulin measurement1927893392789340Human
597215072GWAS1311146_Hbody height QTL GWAS1311146 (human)2e-19body height (VT:0001253)body height (CMO:0000106)1928032292803230Human
597450084GWAS1546158_Htotal cholesterol measurement QTL GWAS1546158 (human)8e-12total cholesterol measurementblood total cholesterol level (CMO:0000051)1928065762806577Human
597421921GWAS1517995_Hsex hormone-binding globulin measurement QTL GWAS1517995 (human)4e-59sex hormone-binding globulin measurement1928065762806577Human
597258210GWAS1354284_Htotal cholesterol measurement QTL GWAS1354284 (human)4e-22total cholesterol measurementblood total cholesterol level (CMO:0000051)1927931962793197Human
2314591INSUL4_HInsulin level QTL 4 (human)3.80.000038Insulin levelfasting19116075902Human
597324772GWAS1420846_Hnon-high density lipoprotein cholesterol measurement QTL GWAS1420846 (human)4e-15non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)1927863992786400Human
597344868GWAS1440942_Hbody fat percentage QTL GWAS1440942 (human)3e-09body fat mass (VT:0010482)body fat percentage (CMO:0000302)1928032292803230Human

Markers in Region
WI-14088  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37192,813,455 - 2,813,579UniSTSGRCh37
Build 36192,764,455 - 2,764,579RGDNCBI36
Celera192,749,499 - 2,749,623RGD
Cytogenetic Map19p13.3UniSTS
HuRef192,583,151 - 2,583,275UniSTS
GeneMap99-GB4 RH Map1932.33UniSTS
Whitehead-RH Map1917.4UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1951 465 2269 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_003249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC006538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU741442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU849088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB965591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HD023001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U29366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U29367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z50115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000307741   ⟹   ENSP00000304467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,785,503 - 2,815,807 (+)Ensembl
Ensembl Acc Id: ENST00000395212   ⟹   ENSP00000378638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,809,538 - 2,813,598 (+)Ensembl
Ensembl Acc Id: ENST00000585338   ⟹   ENSP00000465545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,785,548 - 2,799,762 (+)Ensembl
Ensembl Acc Id: ENST00000585673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,785,514 - 2,804,656 (+)Ensembl
Ensembl Acc Id: ENST00000586677   ⟹   ENSP00000467226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,796,007 - 2,813,382 (+)Ensembl
Ensembl Acc Id: ENST00000586780
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,785,567 - 2,794,888 (+)Ensembl
Ensembl Acc Id: ENST00000587401   ⟹   ENSP00000465895
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,808,358 - 2,812,188 (+)Ensembl
Ensembl Acc Id: ENST00000587468   ⟹   ENSP00000464786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,810,153 - 2,813,181 (+)Ensembl
Ensembl Acc Id: ENST00000589087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,806,017 - 2,813,599 (+)Ensembl
Ensembl Acc Id: ENST00000590533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,807,572 - 2,810,508 (+)Ensembl
Ensembl Acc Id: ENST00000590970   ⟹   ENSP00000465855
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,808,243 - 2,813,599 (+)Ensembl
Ensembl Acc Id: ENST00000591149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,806,985 - 2,810,490 (+)Ensembl
Ensembl Acc Id: ENST00000591363   ⟹   ENSP00000466653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,807,686 - 2,813,599 (+)Ensembl
Ensembl Acc Id: ENST00000592639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl192,809,846 - 2,810,481 (+)Ensembl
RefSeq Acc Id: NM_003249   ⟹   NP_003240
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38192,785,503 - 2,815,807 (+)NCBI
GRCh37192,785,464 - 2,813,599 (+)NCBI
Build 36192,736,506 - 2,764,599 (+)NCBI Archive
HuRef192,554,996 - 2,583,295 (+)ENTREZGENE
CHM1_1192,785,048 - 2,813,191 (+)NCBI
T2T-CHM13v2.0192,760,790 - 2,791,094 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011528228   ⟹   XP_011526530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38192,802,031 - 2,815,807 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047439299   ⟹   XP_047295255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38192,785,503 - 2,810,390 (+)NCBI
RefSeq Acc Id: XM_054321898   ⟹   XP_054177873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0192,775,087 - 2,791,094 (+)NCBI
RefSeq Acc Id: XM_054321899   ⟹   XP_054177874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0192,760,790 - 2,785,677 (+)NCBI
RefSeq Acc Id: NP_003240   ⟸   NM_003249
- UniProtKB: B3KSE2 (UniProtKB/Swiss-Prot),   Q9UCB3 (UniProtKB/Swiss-Prot),   P52888 (UniProtKB/Swiss-Prot),   Q96CV8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011526530   ⟸   XM_011528228
- Peptide Label: isoform X1
- UniProtKB: K7EP46 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000304467   ⟸   ENST00000307741
Ensembl Acc Id: ENSP00000465545   ⟸   ENST00000585338
Ensembl Acc Id: ENSP00000467226   ⟸   ENST00000586677
Ensembl Acc Id: ENSP00000464786   ⟸   ENST00000587468
Ensembl Acc Id: ENSP00000465895   ⟸   ENST00000587401
Ensembl Acc Id: ENSP00000465855   ⟸   ENST00000590970
Ensembl Acc Id: ENSP00000466653   ⟸   ENST00000591363
Ensembl Acc Id: ENSP00000378638   ⟸   ENST00000395212
RefSeq Acc Id: XP_047295255   ⟸   XM_047439299
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054177874   ⟸   XM_054321899
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054177873   ⟸   XM_054321898
- Peptide Label: isoform X1
- UniProtKB: K7EP46 (UniProtKB/TrEMBL)
Protein Domains
Peptidase M3A/M3B catalytic

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P52888-F1-model_v2 AlphaFold P52888 1-689 view protein structure

Promoters
RGD ID:6796098
Promoter ID:HG_KWN:28483
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_003249
Position:
Human AssemblyChrPosition (strand)Source
Build 36192,736,219 - 2,736,719 (+)MPROMDB
RGD ID:6795465
Promoter ID:HG_KWN:28484
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000395212
Position:
Human AssemblyChrPosition (strand)Source
Build 36192,740,244 - 2,740,744 (+)MPROMDB
RGD ID:6796097
Promoter ID:HG_KWN:28485
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:UC002LWK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36192,760,511 - 2,761,011 (+)MPROMDB
RGD ID:7237961
Promoter ID:EPDNEW_H24726
Type:initiation region
Name:THOP1_1
Description:thimet oligopeptidase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38192,785,503 - 2,785,563EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11793 AgrOrtholog
COSMIC THOP1 COSMIC
Ensembl Genes ENSG00000172009 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000307741 ENTREZGENE
  ENST00000307741.11 UniProtKB/Swiss-Prot
  ENST00000395212.8 UniProtKB/Swiss-Prot
  ENST00000585338.1 UniProtKB/TrEMBL
  ENST00000586677.5 UniProtKB/TrEMBL
  ENST00000587401.5 UniProtKB/TrEMBL
  ENST00000587468.1 UniProtKB/TrEMBL
  ENST00000590970.5 UniProtKB/TrEMBL
  ENST00000591363.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.1370.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.390.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Endopeptidase. Chain P, domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000172009 GTEx
HGNC ID HGNC:11793 ENTREZGENE
Human Proteome Map THOP1 Human Proteome Map
InterPro MetalloPept_cat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neurolysin/TOP_dom2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neurolysin/TOP_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_M3A_M3B UniProtKB/Swiss-Prot
  Pept_M3A_M3B UniProtKB/Swiss-Prot
  Pept_M3A_M3B UniProtKB/TrEMBL
  Pept_M3A_M3B UniProtKB/TrEMBL
KEGG Report hsa:7064 UniProtKB/Swiss-Prot
NCBI Gene 7064 ENTREZGENE
OMIM 601117 OMIM
PANTHER PTHR11804 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THIMET OLIGOPEPTIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Peptidase_M3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36505 PharmGKB
PROSITE ZINC_PROTEASE UniProtKB/Swiss-Prot
Superfamily-SCOP Metalloproteases ('zincins'), catalytic domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KSE2 ENTREZGENE
  K7EIK4_HUMAN UniProtKB/TrEMBL
  K7EKB6_HUMAN UniProtKB/TrEMBL
  K7EL02_HUMAN UniProtKB/TrEMBL
  K7EL32_HUMAN UniProtKB/TrEMBL
  K7EMU4_HUMAN UniProtKB/TrEMBL
  K7EP46 ENTREZGENE, UniProtKB/TrEMBL
  P52888 ENTREZGENE
  Q96CV8 ENTREZGENE, UniProtKB/TrEMBL
  Q9BW75_HUMAN UniProtKB/TrEMBL
  Q9UCB3 ENTREZGENE
  THOP1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B3KSE2 UniProtKB/Swiss-Prot
  Q9UCB3 UniProtKB/Swiss-Prot