TOP1 (DNA topoisomerase I) - Rat Genome Database

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Gene: TOP1 (DNA topoisomerase I) Homo sapiens
Analyze
Symbol: TOP1
Name: DNA topoisomerase I
RGD ID: 733198
HGNC Page HGNC:11986
Description: Enables several functions, including ATP binding activity; DNA binding activity; and DNA topoisomerase type I (single strand cut, ATP-independent) activity. Involved in several processes, including DNA topological change; circadian regulation of gene expression; and peptidyl-serine phosphorylation. Located in P-body and nuclear lumen. Part of protein-DNA complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DNA topoisomerase 1; Scl-70 antigen; TOPI; topoisomerase (DNA) I; type I DNA topoisomerase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: TOP1P1   TOP1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382041,028,822 - 41,124,487 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2041,028,822 - 41,124,487 (+)EnsemblGRCh38hg38GRCh38
GRCh372039,657,462 - 39,753,127 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362039,090,876 - 39,186,541 (+)NCBINCBI36Build 36hg18NCBI36
Build 342039,090,875 - 39,186,541NCBI
Celera2036,368,028 - 36,463,696 (+)NCBICelera
Cytogenetic Map20q12NCBI
HuRef2036,395,468 - 36,491,177 (+)NCBIHuRef
CHM1_12039,561,887 - 39,657,539 (+)NCBICHM1_1
T2T-CHM13v2.02042,760,511 - 42,856,164 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1-nitropyrene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
3'-deamino-3'-(3-cyanomorpholin-4-yl)doxorubicin  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxynon-2-enal  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
actinomycin D  (ISO)
afimoxifene  (EXP)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
anthracenes  (EXP)
antirheumatic drug  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
berberine  (EXP)
betulinic acid  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
Boswellic acid  (EXP)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
camptothecin  (EXP,ISO)
captafol  (ISO)
chloroacetaldehyde  (EXP)
choline  (ISO)
cidofovir anhydrous  (EXP)
ciprofloxacin  (EXP)
cisplatin  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
DDE  (EXP)
decabromodiphenyl ether  (EXP)
delphinidin  (EXP)
dibenzo[a,l]pyrene  (ISO)
dioxygen  (EXP)
diuron  (EXP)
dorsomorphin  (EXP)
elemental selenium  (EXP)
ethanol  (ISO)
fenofibrate  (ISO)
flavonoids  (EXP,ISO)
fluoranthene  (ISO)
folic acid  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
graphene oxide  (EXP)
hydrogen peroxide  (EXP,ISO)
hydroxyurea  (ISO)
ifosfamide  (EXP)
indirubin  (EXP)
inulin  (ISO)
irinotecan  (EXP)
L-methionine  (ISO)
lapatinib  (EXP)
lead(0)  (EXP)
lipopolysaccharide  (EXP,ISO)
luteolin  (ISO)
menadione  (EXP)
methimazole  (ISO)
methotrexate  (EXP)
miconazole  (ISO)
moxifloxacin  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
nevadensin  (EXP)
Nitidine  (EXP)
oleanolic acid  (EXP)
oxaliplatin  (EXP,ISO)
p-anisidine  (ISO)
p-menthan-3-ol  (EXP)
paclitaxel  (ISO)
palbociclib  (EXP)
palmatine  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
pirinixic acid  (ISO)
propiconazole  (ISO)
raloxifene  (EXP)
resveratrol  (EXP,ISO)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
tamibarotene  (EXP)
tamoxifen  (EXP)
testosterone  (ISO)
tetrahydropalmatine  (EXP)
titanium dioxide  (ISO)
topotecan  (EXP,ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
tungsten  (ISO)
tunicamycin  (ISO)
urethane  (EXP)
ursolic acid  (EXP)
valproic acid  (EXP,ISO)
vitamin E  (EXP)
vorinostat  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromosome  (IEA)
cytoplasm  (IEA)
dense fibrillar component  (ISO)
fibrillar center  (IDA,ISO)
male germ cell nucleus  (IEA)
nuclear chromosome  (IDA)
nucleolus  (IBA,IDA,IEA,IMP)
nucleoplasm  (IDA,IEA,IMP,TAS)
nucleus  (HDA,IDA,IEA)
P-body  (IDA)
perikaryon  (IEA)
protein-DNA complex  (IMP)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1332703   PMID:1339303   PMID:1849260   PMID:1851751   PMID:2174357   PMID:2176592   PMID:2461859   PMID:2544263   PMID:2558068   PMID:2833744   PMID:2848244   PMID:2998765  
PMID:7539924   PMID:7882333   PMID:8125298   PMID:8567649   PMID:8631793   PMID:8631794   PMID:8639538   PMID:9049244   PMID:9188637   PMID:9209286   PMID:9209315   PMID:9396813  
PMID:9488644   PMID:9488652   PMID:9512561   PMID:9611241   PMID:9660958   PMID:9756848   PMID:9933635   PMID:10352183   PMID:10468612   PMID:10497031   PMID:10556215   PMID:10759568  
PMID:10792988   PMID:10841763   PMID:10967121   PMID:11001406   PMID:11016921   PMID:11254741   PMID:11283003   PMID:11709553   PMID:11749700   PMID:11780052   PMID:11790298   PMID:11805286  
PMID:11809893   PMID:11818025   PMID:11832494   PMID:11844605   PMID:12004060   PMID:12051740   PMID:12097280   PMID:12119295   PMID:12149243   PMID:12209008   PMID:12209444   PMID:12237772  
PMID:12270136   PMID:12270705   PMID:12426403   PMID:12439742   PMID:12477932   PMID:12519782   PMID:12549820   PMID:12618186   PMID:12634843   PMID:12673200   PMID:12708316   PMID:12711735  
PMID:12723479   PMID:12777385   PMID:12829794   PMID:12878161   PMID:12904303   PMID:13679149   PMID:14594810   PMID:14654701   PMID:14688260   PMID:14706652   PMID:14729676   PMID:14741206  
PMID:14961077   PMID:15010314   PMID:15014084   PMID:15064750   PMID:15100157   PMID:15147201   PMID:15178684   PMID:15196694   PMID:15247263   PMID:15351405   PMID:15361825   PMID:15448168  
PMID:15635413   PMID:15640154   PMID:15680922   PMID:15830206   PMID:15848144   PMID:15850773   PMID:15923621   PMID:15944452   PMID:16127745   PMID:16226712   PMID:16314322   PMID:16344560  
PMID:16407974   PMID:16415033   PMID:16428803   PMID:16537084   PMID:16791210   PMID:16799632   PMID:16819839   PMID:16930551   PMID:17101150   PMID:17148452   PMID:17158748   PMID:17172417  
PMID:17234752   PMID:17314511   PMID:17355975   PMID:17434318   PMID:17439970   PMID:17481653   PMID:17490723   PMID:17656417   PMID:17706468   PMID:17765665   PMID:17827209   PMID:17976381  
PMID:18003733   PMID:18004878   PMID:18029348   PMID:18054778   PMID:18089815   PMID:18162579   PMID:18215123   PMID:18408216   PMID:18495665   PMID:18515798   PMID:18553933   PMID:18556653  
PMID:18588899   PMID:18676842   PMID:18693244   PMID:18697815   PMID:18713021   PMID:18765473   PMID:18772225   PMID:18826252   PMID:18855534   PMID:19083133   PMID:19173801   PMID:19232127  
PMID:19336913   PMID:19380834   PMID:19435923   PMID:19452556   PMID:19494003   PMID:19604089   PMID:19639183   PMID:19666469   PMID:19710015   PMID:19738201   PMID:19740104   PMID:19883377  
PMID:19916945   PMID:19952118   PMID:20020773   PMID:20186120   PMID:20195357   PMID:20215517   PMID:20465595   PMID:20467437   PMID:20504901   PMID:20682265   PMID:20686565   PMID:20805487  
PMID:20855291   PMID:20875401   PMID:20944095   PMID:21046176   PMID:21081666   PMID:21092135   PMID:21145461   PMID:21182205   PMID:21182307   PMID:21229879   PMID:21319273   PMID:21504738  
PMID:21542140   PMID:21619602   PMID:21628532   PMID:21679440   PMID:21827649   PMID:21832049   PMID:21873635   PMID:21903422   PMID:21907836   PMID:21922105   PMID:21953548   PMID:21994574  
PMID:22080610   PMID:22158865   PMID:22171973   PMID:22199357   PMID:22344449   PMID:22375014   PMID:22586326   PMID:22623428   PMID:22658674   PMID:22672768   PMID:22681889   PMID:22751105  
PMID:22904072   PMID:22939629   PMID:22991469   PMID:23085462   PMID:23101460   PMID:23151878   PMID:23213405   PMID:23214297   PMID:23349762   PMID:23368812   PMID:23383273   PMID:23455922  
PMID:23557481   PMID:23577133   PMID:23601649   PMID:23602568   PMID:23626666   PMID:23658456   PMID:23752268   PMID:23836376   PMID:23844196   PMID:24004603   PMID:24013388   PMID:24040417  
PMID:24069881   PMID:24096022   PMID:24097068   PMID:24103454   PMID:24123038   PMID:24130054   PMID:24147044   PMID:24252850   PMID:24327519   PMID:24362462   PMID:24399039   PMID:24457600  
PMID:24461384   PMID:24515614   PMID:24583282   PMID:24591637   PMID:24711643   PMID:24780295   PMID:24793032   PMID:24960044   PMID:24981860   PMID:25056319   PMID:25227992   PMID:25269479  
PMID:25293362   PMID:25522766   PMID:25539742   PMID:25615400   PMID:25619691   PMID:25777966   PMID:25795777   PMID:25798074   PMID:25815590   PMID:25825154   PMID:25833399   PMID:25855483  
PMID:25887397   PMID:25910424   PMID:25921289   PMID:25931012   PMID:25948554   PMID:25960253   PMID:25963833   PMID:25987486   PMID:26025908   PMID:26030138   PMID:26167880   PMID:26186194  
PMID:26221582   PMID:26239904   PMID:26288249   PMID:26314374   PMID:26344197   PMID:26351326   PMID:26496610   PMID:26540186   PMID:26549023   PMID:26578593   PMID:26676887   PMID:26687479  
PMID:26801902   PMID:26959889   PMID:27025967   PMID:27029323   PMID:27050524   PMID:27058666   PMID:27428351   PMID:27431056   PMID:27453043   PMID:27462463   PMID:27466387   PMID:27587582  
PMID:27684187   PMID:27932244   PMID:28192407   PMID:28302793   PMID:28319085   PMID:28319113   PMID:28415827   PMID:28514442   PMID:28515276   PMID:28524877   PMID:28611094   PMID:28730788  
PMID:28846114   PMID:28870917   PMID:28977666   PMID:29107586   PMID:29117863   PMID:29128334   PMID:29180619   PMID:29248492   PMID:29261002   PMID:29298432   PMID:29346117   PMID:29467282  
PMID:29478914   PMID:29507755   PMID:29511261   PMID:29568061   PMID:29618616   PMID:29777862   PMID:29802200   PMID:29845934   PMID:29860208   PMID:29955894   PMID:29961565   PMID:29991511  
PMID:30021884   PMID:30058109   PMID:30060749   PMID:30132517   PMID:30150775   PMID:30196744   PMID:30209976   PMID:30320910   PMID:30415952   PMID:30425250   PMID:30462309   PMID:30463901  
PMID:30503554   PMID:30554943   PMID:30559450   PMID:30575818   PMID:30585729   PMID:30679605   PMID:30686591   PMID:30804502   PMID:30884312   PMID:30940648   PMID:30948266   PMID:30997501  
PMID:31048545   PMID:31076518   PMID:31091453   PMID:31180492   PMID:31239290   PMID:31248990   PMID:31324722   PMID:31353912   PMID:31365120   PMID:31409639   PMID:31415918   PMID:31533039  
PMID:31586073   PMID:31665637   PMID:31753913   PMID:31822558   PMID:31871319   PMID:31922440   PMID:31980649   PMID:31995728   PMID:32041737   PMID:32051553   PMID:32075966   PMID:32129710  
PMID:32152270   PMID:32416067   PMID:32457219   PMID:32513688   PMID:32529326   PMID:32707033   PMID:32744500   PMID:32769985   PMID:32780723   PMID:32807901   PMID:32877691   PMID:32886170  
PMID:32900933   PMID:32941674   PMID:32951576   PMID:32971831   PMID:33144457   PMID:33188014   PMID:33301849   PMID:33306668   PMID:33450211   PMID:33545068   PMID:33596420   PMID:33644029  
PMID:33658012   PMID:33731348   PMID:33790151   PMID:33836156   PMID:33916271   PMID:33961781   PMID:34079125   PMID:34185411   PMID:34186245   PMID:34189442   PMID:34244482   PMID:34244791  
PMID:34349018   PMID:34373451   PMID:34408146   PMID:34431227   PMID:34537242   PMID:34591642   PMID:34650049   PMID:34709727   PMID:34718347   PMID:34728620   PMID:34767771   PMID:34901782  
PMID:34974222   PMID:35013218   PMID:35013228   PMID:35140242   PMID:35140396   PMID:35182466   PMID:35235311   PMID:35256949   PMID:35271311   PMID:35439318   PMID:35446349   PMID:35509820  
PMID:35575683   PMID:35583604   PMID:35676659   PMID:35687110   PMID:35831314   PMID:35850772   PMID:35864588   PMID:35914814   PMID:35915203   PMID:35944360   PMID:36057605   PMID:36089195  
PMID:36114006   PMID:36129980   PMID:36168627   PMID:36168628   PMID:36215168   PMID:36232890   PMID:36244648   PMID:36273042   PMID:36339263   PMID:36373674   PMID:36424410   PMID:36517590  
PMID:36526897   PMID:36537216   PMID:36574265   PMID:36634849   PMID:36912080   PMID:36964488   PMID:37071682   PMID:37267103   PMID:37314180   PMID:37506885   PMID:37616343   PMID:37689310  
PMID:37827155   PMID:37831776   PMID:38113892   PMID:38172120   PMID:38334954   PMID:38340342   PMID:38697112   PMID:38710779   PMID:38787953   PMID:38944174   PMID:39147351   PMID:39231216  


Genomics

Comparative Map Data
TOP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382041,028,822 - 41,124,487 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2041,028,822 - 41,124,487 (+)EnsemblGRCh38hg38GRCh38
GRCh372039,657,462 - 39,753,127 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362039,090,876 - 39,186,541 (+)NCBINCBI36Build 36hg18NCBI36
Build 342039,090,875 - 39,186,541NCBI
Celera2036,368,028 - 36,463,696 (+)NCBICelera
Cytogenetic Map20q12NCBI
HuRef2036,395,468 - 36,491,177 (+)NCBIHuRef
CHM1_12039,561,887 - 39,657,539 (+)NCBICHM1_1
T2T-CHM13v2.02042,760,511 - 42,856,164 (+)NCBIT2T-CHM13v2.0
Top1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392160,487,901 - 160,564,684 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2160,487,808 - 160,564,684 (+)EnsemblGRCm39 Ensembl
GRCm382160,645,897 - 160,722,764 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2160,645,888 - 160,722,764 (+)EnsemblGRCm38mm10GRCm38
MGSCv372160,471,633 - 160,548,500 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362160,337,671 - 160,414,152 (+)NCBIMGSCv36mm8
Celera2166,577,915 - 166,654,823 (+)NCBICelera
Cytogenetic Map2H2NCBI
cM Map280.96NCBI
Top1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83169,713,195 - 169,796,330 (+)NCBIGRCr8
mRatBN7.23149,293,469 - 149,376,618 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3149,293,403 - 149,376,623 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3153,107,309 - 153,188,513 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03161,606,688 - 161,687,898 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03159,345,818 - 159,427,549 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03156,635,688 - 156,717,686 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3156,642,464 - 156,717,686 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03162,865,335 - 162,947,076 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43151,428,931 - 151,512,884 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13151,334,966 - 151,418,920 (+)NCBI
Celera3147,968,261 - 148,049,789 (+)NCBICelera
Cytogenetic Map3q42NCBI
Top1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544515,834,017 - 15,922,785 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544515,834,017 - 15,922,785 (-)NCBIChiLan1.0ChiLan1.0
TOP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22146,769,898 - 46,866,351 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12046,762,969 - 46,859,450 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02037,368,606 - 37,464,649 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12038,468,197 - 38,563,842 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2038,468,452 - 38,562,652 (+)Ensemblpanpan1.1panPan2
TOP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12429,075,267 - 29,166,733 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2429,075,492 - 29,165,864 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2428,720,984 - 28,812,380 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02429,781,234 - 29,872,485 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2429,781,498 - 29,872,296 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12429,049,969 - 29,141,401 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02429,153,861 - 29,245,250 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02429,650,217 - 29,741,420 (+)NCBIUU_Cfam_GSD_1.0
Top1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640178,026,161 - 178,108,033 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936561641,423 - 723,518 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936561641,451 - 723,323 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TOP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1743,710,290 - 43,799,700 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11743,710,270 - 43,799,700 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21749,135,554 - 49,193,582 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TOP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1222,655,085 - 22,751,082 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl222,651,995 - 22,751,102 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605071,467,009 - 71,562,443 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Top1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249191,668,440 - 1,756,629 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249191,668,712 - 1,756,624 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TOP1
32 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003286.2(TOP1):c.1748G>A (p.Gly583Asp) single nucleotide variant not provided [RCV000144439] Chr20:41116318 [GRCh38]
Chr20:39744958 [GRCh37]
Chr20:20q12		 not provided
NM_003286.4(TOP1):c.1252G>A (p.Glu418Lys) single nucleotide variant DNA topoisomerase I, camptothecin-resistant [RCV000018262] Chr20:41101297 [GRCh38]
Chr20:39729937 [GRCh37]
Chr20:20q12		 pathogenic
GRCh38/hg38 20q11.22-13.11(chr20:34249453-43359749)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|See cases [RCV000053002] Chr20:34249453..43359749 [GRCh38]
Chr20:32837259..41988389 [GRCh37]
Chr20:32300920..41421803 [NCBI36]
Chr20:20q11.22-13.11		 pathogenic
NM_003286.4(TOP1):c.1217A>T (p.His406Leu) single nucleotide variant Autism spectrum disorder [RCV001291503] Chr20:41101262 [GRCh38]
Chr20:39729902 [GRCh37]
Chr20:20q12		 association
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 copy number loss See cases [RCV000140816] Chr20:35237946..47631818 [GRCh38]
Chr20:33825749..46260562 [GRCh37]
Chr20:33289165..45693969 [NCBI36]
Chr20:20q11.22-13.12		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_003286.4(TOP1):c.1101C>T (p.His367=) single nucleotide variant not provided [RCV000983094] Chr20:41100181 [GRCh38]
Chr20:39728821 [GRCh37]
Chr20:20q12		 likely benign
NM_003286.4(TOP1):c.144G>A (p.Lys48=) single nucleotide variant not provided [RCV000879738] Chr20:41061479 [GRCh38]
Chr20:39690119 [GRCh37]
Chr20:20q12		 benign
NM_003286.4(TOP1):c.1047G>A (p.Arg349=) single nucleotide variant not provided [RCV000965471] Chr20:41100127 [GRCh38]
Chr20:39728767 [GRCh37]
Chr20:20q12		 benign
NM_003286.4(TOP1):c.2040G>A (p.Thr680=) single nucleotide variant TOP1-related disorder [RCV003925783]|not provided [RCV000926145] Chr20:41121785 [GRCh38]
Chr20:39750425 [GRCh37]
Chr20:20q12		 benign|likely benign
NM_003286.4(TOP1):c.594A>G (p.Glu198=) single nucleotide variant TOP1-related disorder [RCV003920648]|not provided [RCV000885935] Chr20:41084548 [GRCh38]
Chr20:39713188 [GRCh37]
Chr20:20q12		 benign
NM_003286.4(TOP1):c.528C>T (p.Pro176=) single nucleotide variant not provided [RCV000890414] Chr20:41084482 [GRCh38]
Chr20:39713122 [GRCh37]
Chr20:20q12		 benign
NM_003286.4(TOP1):c.241C>T (p.His81Tyr) single nucleotide variant not provided [RCV000957749] Chr20:41076256 [GRCh38]
Chr20:39704896 [GRCh37]
Chr20:20q12		 benign
Single allele deletion Focal-onset seizure [RCV001004039] Chr20:34980430..46806549 [GRCh37]
Chr20:20q11.23-13.13		 likely pathogenic
NM_003286.4(TOP1):c.284G>A (p.Arg95Gln) single nucleotide variant not specified [RCV004160966] Chr20:41077586 [GRCh38]
Chr20:39706226 [GRCh37]
Chr20:20q12		 uncertain significance
NM_003286.4(TOP1):c.2078G>A (p.Arg693Lys) single nucleotide variant not specified [RCV004133804] Chr20:41122038 [GRCh38]
Chr20:39750678 [GRCh37]
Chr20:20q12		 uncertain significance
NM_003286.4(TOP1):c.2083G>C (p.Glu695Gln) single nucleotide variant not specified [RCV004122253] Chr20:41122043 [GRCh38]
Chr20:39750683 [GRCh37]
Chr20:20q12		 uncertain significance
NM_003286.4(TOP1):c.532A>C (p.Asn178His) single nucleotide variant not specified [RCV004096406] Chr20:41084486 [GRCh38]
Chr20:39713126 [GRCh37]
Chr20:20q12		 uncertain significance
NM_003286.4(TOP1):c.735A>C (p.Lys245Asn) single nucleotide variant not specified [RCV004343990] Chr20:41097224 [GRCh38]
Chr20:39725864 [GRCh37]
Chr20:20q12		 uncertain significance
NM_003286.4(TOP1):c.585G>A (p.Pro195=) single nucleotide variant TOP1-related disorder [RCV003912167] Chr20:41084539 [GRCh38]
Chr20:39713179 [GRCh37]
Chr20:20q12		 likely benign
NM_003286.4(TOP1):c.1446C>T (p.Ile482=) single nucleotide variant TOP1-related disorder [RCV003944229] Chr20:41112919 [GRCh38]
Chr20:39741559 [GRCh37]
Chr20:20q12		 likely benign
NM_003286.4(TOP1):c.1875T>C (p.Ala625=) single nucleotide variant TOP1-related disorder [RCV003914685] Chr20:41118221 [GRCh38]
Chr20:39746861 [GRCh37]
Chr20:20q12		 likely benign
NM_003286.4(TOP1):c.1882A>G (p.Ile628Val) single nucleotide variant not specified [RCV004468025] Chr20:41118228 [GRCh38]
Chr20:39746868 [GRCh37]
Chr20:20q12		 uncertain significance
NM_003286.4(TOP1):c.1543C>T (p.His515Tyr) single nucleotide variant not specified [RCV004468024] Chr20:41114060 [GRCh38]
Chr20:39742700 [GRCh37]
Chr20:20q12		 uncertain significance
NM_003286.4(TOP1):c.957G>A (p.Met319Ile) single nucleotide variant not specified [RCV004682588] Chr20:41098319 [GRCh38]
Chr20:39726959 [GRCh37]
Chr20:20q12		 uncertain significance
NM_003286.4(TOP1):c.482A>G (p.Lys161Arg) single nucleotide variant not specified [RCV004682587] Chr20:41081215 [GRCh38]
Chr20:39709855 [GRCh37]
Chr20:20q12		 uncertain significance
NM_003286.4(TOP1):c.1181C>T (p.Ser394Phe) single nucleotide variant not specified [RCV004682589] Chr20:41101226 [GRCh38]
Chr20:39729866 [GRCh37]
Chr20:20q12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:592
Count of miRNA genes:370
Interacting mature miRNAs:445
Transcripts:ENST00000361337
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
406984899GWAS633875_Hhemoglobin measurement QTL GWAS633875 (human)2e-10free cholesterol measurement, low density lipoprotein cholesterol measurementblood cholesterol level (CMO:0002280)204104964941049650Human
407185094GWAS834070_Hvery low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS834070 (human)3e-08very low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratioblood very low density lipoprotein cholesterol level (CMO:0000648)204104964941049650Human
407288901GWAS937877_Htotal cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS937877 (human)8e-10total cholesterol measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)204104964941049650Human
407093063GWAS742039_HBMI-adjusted waist-hip ratio QTL GWAS742039 (human)2e-13BMI-adjusted waist-hip ratio204106170241061703Human
407215052GWAS864028_Hlow density lipoprotein cholesterol measurement, lipid measurement QTL GWAS864028 (human)3e-11low density lipoprotein cholesterol measurement, lipid measurementblood lipid measurement (CMO:0000050)204104964941049650Human
407317965GWAS966941_Hfree cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS966941 (human)9e-12free cholesterol measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)204104964941049650Human
407312589GWAS961565_Hcholesteryl ester measurement, very low density lipoprotein cholesterol measurement QTL GWAS961565 (human)1e-11blood lipid amount (VT:0003949)blood very low density lipoprotein cholesterol level (CMO:0000648)204104964941049650Human
407309901GWAS958877_Hapolipoprotein B measurement QTL GWAS958877 (human)3e-10low density lipoprotein cholesterol measurement, lipid measurementblood lipid measurement (CMO:0000050)204104964941049650Human
407235657GWAS884633_Hlow density lipoprotein cholesterol measurement QTL GWAS884633 (human)2e-34low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)204109569841095699Human
407247563GWAS896539_Hcataract QTL GWAS896539 (human)1e-10cataract204110808241108083Human
406991052GWAS640028_HAlzheimer disease, cognitive decline measurement, Cognitive impairment QTL GWAS640028 (human)0.000004cognitive behavior trait (VT:0010450)204104964941049650Human
407199306GWAS848282_Hcorneal resistance factor QTL GWAS848282 (human)2e-13corneal resistance factor204105254741052548Human
407111632GWAS760608_Hmathematical ability QTL GWAS760608 (human)2e-08mathematical ability204105304341053044Human
407074523GWAS723499_Hwaist-hip ratio QTL GWAS723499 (human)4e-11waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)204106170241061703Human
407304159GWAS953135_Hcortex volume change measurement, age at assessment QTL GWAS953135 (human)0.000007cortex volume change measurement, age at assessment204103468941034690Human
407255650GWAS904626_Hlow density lipoprotein cholesterol measurement, phospholipid measurement QTL GWAS904626 (human)5e-12low density lipoprotein cholesterol measurement, phospholipid measurementblood low density lipoprotein cholesterol level (CMO:0000053)204104964941049650Human
407185761GWAS834737_Htriglycerides:total lipids ratio, very low density lipoprotein cholesterol measurement QTL GWAS834737 (human)6e-10triglycerides:total lipids ratio, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)204108522941085230Human
406948196GWAS597172_HBMI-adjusted waist-hip ratio QTL GWAS597172 (human)1e-12BMI-adjusted waist-hip ratio204106170241061703Human
407231459GWAS880435_Hlow density lipoprotein cholesterol measurement QTL GWAS880435 (human)0.000003low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)204109569841095699Human
407240801GWAS889777_Hapolipoprotein B measurement QTL GWAS889777 (human)5e-17apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)204105621541056216Human
407188972GWAS837948_Hfree cholesterol measurement, low density lipoprotein cholesterol measurement QTL GWAS837948 (human)2e-08free cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)204104964941049650Human
406894442GWAS543418_Hfasting blood glucose measurement QTL GWAS543418 (human)0.000003fasting blood glucose measurementblood glucose level (CMO:0000046)204111526541115266Human
407298413GWAS947389_Hcholesteryl ester measurement, very low density lipoprotein cholesterol measurement QTL GWAS947389 (human)1e-08blood lipid amount (VT:0003949)blood lipoprotein measurement (CMO:0002690)204104964941049650Human
407351147GWAS1000123_HBMI-adjusted waist-hip ratio QTL GWAS1000123 (human)3e-08BMI-adjusted waist-hip ratio204108625041086251Human
407337962GWAS986938_Hsex hormone-binding globulin measurement QTL GWAS986938 (human)2e-10sex hormone-binding globulin measurement204105621541056216Human
407255401GWAS904377_Hmyocardial infarction QTL GWAS904377 (human)0.000002myocardial infarction204103358541033586Human
407064172GWAS713148_Hred blood cell density measurement QTL GWAS713148 (human)8e-14red blood cell density measurement204104964941049650Human
407236213GWAS885189_Hlipid measurement, intermediate density lipoprotein measurement QTL GWAS885189 (human)5e-08lipid measurement, intermediate density lipoprotein measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)204104964941049650Human
407192311GWAS841287_Hlow density lipoprotein cholesterol measurement QTL GWAS841287 (human)7e-11total cholesterol measurement, low density lipoprotein cholesterol measurementblood total cholesterol level (CMO:0000051)204104964941049650Human
406978290GWAS627266_Hhemoglobin measurement QTL GWAS627266 (human)2e-13hemoglobin measurementhemoglobin measurement (CMO:0000508)204104964941049650Human
1300007BP29_HBlood pressure QTL 29 (human)Blood pressurehypertension susceptibility203653600562536005Human
407186417GWAS835393_Hcholesteryl ester measurement, low density lipoprotein cholesterol measurement QTL GWAS835393 (human)5e-11blood lipid amount (VT:0003949)blood low density lipoprotein cholesterol level (CMO:0000053)204104964941049650Human
407025396GWAS674372_Hlow density lipoprotein cholesterol measurement QTL GWAS674372 (human)3e-19low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)204104397841043979Human
407048185GWAS697161_Htotal cholesterol measurement QTL GWAS697161 (human)1e-16total cholesterol measurementblood total cholesterol level (CMO:0000051)204104397841043979Human
406995065GWAS644041_Htotal cholesterol measurement QTL GWAS644041 (human)0.000002total cholesterol measurementblood total cholesterol level (CMO:0000051)204104397841043979Human
406918525GWAS567501_Hlow density lipoprotein cholesterol measurement QTL GWAS567501 (human)3e-12low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)204104397841043979Human
407412340GWAS1061316_Htotal cholesterol measurement QTL GWAS1061316 (human)2e-09total cholesterol measurementblood total cholesterol level (CMO:0000051)204109569841095699Human
407360249GWAS1009225_Heducational attainment QTL GWAS1009225 (human)0.0000002educational attainment204104171441041715Human
407257336GWAS906312_Hlow density lipoprotein cholesterol measurement QTL GWAS906312 (human)6e-09low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)204104964941049650Human
407159419GWAS808395_Hlow density lipoprotein cholesterol measurement QTL GWAS808395 (human)7e-12low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)204109569841095699Human
407048194GWAS697170_Hlow density lipoprotein cholesterol measurement QTL GWAS697170 (human)5e-18low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)204104397841043979Human
407185668GWAS834644_Hlow density lipoprotein cholesterol measurement, lipid measurement QTL GWAS834644 (human)6e-11blood lipid amount (VT:0003949)blood lipid measurement (CMO:0000050)204104964941049650Human
407338629GWAS987605_Hlow density lipoprotein cholesterol measurement QTL GWAS987605 (human)7e-10low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)204104964941049650Human
407257093GWAS906069_Htotal cholesterol measurement QTL GWAS906069 (human)1e-16total cholesterol measurementblood total cholesterol level (CMO:0000051)204105621541056216Human
407217805GWAS866781_HHMG CoA reductase inhibitor use measurement QTL GWAS866781 (human)1e-15HMG CoA reductase inhibitor use measurement204111776341117764Human
407200399GWAS849375_Hcentral corneal thickness QTL GWAS849375 (human)5e-12central corneal thickness204105254741052548Human
407330701GWAS979677_Hurate measurement QTL GWAS979677 (human)4e-10urate measurementblood uric acid level (CMO:0000501)204111364441113645Human
407298445GWAS947421_Hfree cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS947421 (human)4e-10blood lipid amount (VT:0003949)blood low density lipoprotein cholesterol level (CMO:0000053)204104964941049650Human
406946189GWAS595165_Hhemoglobin measurement QTL GWAS595165 (human)2e-15hemoglobin measurementhemoglobin measurement (CMO:0000508)204104964941049650Human
407118472GWAS767448_Hbody height QTL GWAS767448 (human)1e-15body height (VT:0001253)body height (CMO:0000106)204109905541099056Human
406933646GWAS582622_Hheel bone mineral density QTL GWAS582622 (human)8e-12heel bone mineral densitybone mineral density (CMO:0001226)204104984141049842Human
407112464GWAS761440_Herythrocyte count QTL GWAS761440 (human)4e-09low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)204104964941049650Human
407238161GWAS887137_Hphospholipid measurement, intermediate density lipoprotein measurement QTL GWAS887137 (human)4e-08high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)204104964941049650Human
407224848GWAS873824_HBMI-adjusted hip circumference QTL GWAS873824 (human)3e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)204111776341117764Human
407287440GWAS936416_Hcholesteryl ester measurement, low density lipoprotein cholesterol measurement QTL GWAS936416 (human)1e-10blood lipid amount (VT:0003949)blood low density lipoprotein cholesterol level (CMO:0000053)204104964941049650Human
407252638GWAS901614_Hbilirubin measurement QTL GWAS901614 (human)3e-13bilirubin measurementserum total bilirubin level (CMO:0000376)204111776341117764Human
407322780GWAS971756_Hlow density lipoprotein cholesterol measurement QTL GWAS971756 (human)4e-20low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)204108522941085230Human
407246874GWAS895850_Hcataract QTL GWAS895850 (human)1e-11cataract204108139841081399Human
406913571GWAS562547_Hlow density lipoprotein cholesterol measurement QTL GWAS562547 (human)3e-11low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)204104397841043979Human
407346725GWAS995701_Hurate measurement QTL GWAS995701 (human)1e-11urate measurementblood uric acid level (CMO:0000501)204111364441113645Human
406913570GWAS562546_Hlow density lipoprotein cholesterol measurement QTL GWAS562546 (human)1e-10low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)204104397841043979Human
407097383GWAS746359_Htotal cholesterol measurement QTL GWAS746359 (human)1e-09total cholesterol measurementblood total cholesterol level (CMO:0000051)204104397841043979Human
407313827GWAS962803_Hfree cholesterol measurement QTL GWAS962803 (human)5e-09free cholesterol measurementblood cholesterol level (CMO:0002280)204104964941049650Human
406893352GWAS542328_Hfasting blood glucose measurement QTL GWAS542328 (human)2e-10fasting blood glucose measurementblood glucose level (CMO:0000046)204111526541115266Human
407155500GWAS804476_Hserum gamma-glutamyl transferase measurement QTL GWAS804476 (human)4e-09serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)204111601041116011Human
407318958GWAS967934_Hremnant cholesterol measurement QTL GWAS967934 (human)3e-09remnant cholesterol measurement204104964941049650Human
407097384GWAS746360_Htotal cholesterol measurement QTL GWAS746360 (human)2e-10total cholesterol measurementblood total cholesterol level (CMO:0000051)204104397841043979Human
407328043GWAS977019_Htotal cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS977019 (human)6e-12total cholesterol measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)204104964941049650Human
407100591GWAS749567_Herythrocyte count QTL GWAS749567 (human)4e-09erythrocyte countred blood cell count (CMO:0000025)204108522941085230Human
407340584GWAS989560_Hlow density lipoprotein cholesterol measurement QTL GWAS989560 (human)3e-18low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)204105621541056216Human
407331126GWAS980102_Hurate measurement QTL GWAS980102 (human)0.000005urate measurementblood uric acid level (CMO:0000501)204111364441113645Human
407314485GWAS963461_Htotal cholesterol measurement QTL GWAS963461 (human)9e-09total cholesterol measurementblood total cholesterol level (CMO:0000051)204104964941049650Human
407120945GWAS769921_Htotal cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS769921 (human)1e-09milk polyunsaturated fatty acid amount (VT:0010374)milk polyunsaturated fatty acid measurement (CMO:0000821)204104964941049650Human
407066429GWAS715405_Hred blood cell density measurement QTL GWAS715405 (human)2e-11low density lipoprotein cholesterol measurement, lipid measurementblood lipid measurement (CMO:0000050)204104964941049650Human
407342009GWAS990985_HBMI-adjusted waist-hip ratio QTL GWAS990985 (human)4e-08BMI-adjusted waist-hip ratio204108625041086251Human

Markers in Region
RH36224  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372039,701,837 - 39,701,944UniSTSGRCh37
Build 362039,135,251 - 39,135,358RGDNCBI36
Celera2036,412,405 - 36,412,512RGD
Cytogenetic Map20q12-q13.1UniSTS
HuRef2036,439,829 - 36,439,936UniSTS
GeneMap99-GB4 RH Map20231.63UniSTS
NCBI RH Map20380.3UniSTS
D20S758  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372039,677,554 - 39,677,753UniSTSGRCh37
Build 362039,110,968 - 39,111,167RGDNCBI36
Celera2036,388,122 - 36,388,321RGD
Cytogenetic Map20q12-q13.1UniSTS
HuRef2036,415,546 - 36,415,745UniSTS
Whitehead-RH Map20249.6UniSTS
Whitehead-YAC Contig Map20 UniSTS
SHGC-78852  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372039,727,948 - 39,728,285UniSTSGRCh37
Build 362039,161,362 - 39,161,699RGDNCBI36
Celera2036,438,517 - 36,438,854RGD
Cytogenetic Map20q12-q13.1UniSTS
HuRef2036,465,941 - 36,466,278UniSTS
TNG Radiation Hybrid Map2018413.0UniSTS
PMC133732P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372039,657,710 - 39,658,091UniSTSGRCh37
Build 362039,091,124 - 39,091,505RGDNCBI36
Celera2036,368,276 - 36,368,657RGD
Cytogenetic Map20q12-q13.1UniSTS
HuRef2036,395,716 - 36,396,097UniSTS
PMC133732P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372039,729,764 - 39,729,999UniSTSGRCh37
Build 362039,163,178 - 39,163,413RGDNCBI36
Celera2036,440,333 - 36,440,568RGD
Cytogenetic Map20q12-q13.1UniSTS
HuRef2036,467,757 - 36,467,992UniSTS
PMC133732P4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372039,662,255 - 39,662,469UniSTSGRCh37
Build 362039,095,669 - 39,095,883RGDNCBI36
Celera2036,372,820 - 36,373,034RGD
Cytogenetic Map20q12-q13.1UniSTS
HuRef2036,400,260 - 36,400,474UniSTS
RH71013  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372039,751,945 - 39,752,327UniSTSGRCh37
Build 362039,185,359 - 39,185,741RGDNCBI36
Celera2036,462,514 - 36,462,896RGD
Cytogenetic Map20q12-q13.1UniSTS
HuRef2036,489,995 - 36,490,377UniSTS
GeneMap99-GB4 RH Map20228.85UniSTS
Z94472  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372039,683,489 - 39,683,576UniSTSGRCh37
Build 362039,116,903 - 39,116,990RGDNCBI36
Celera2036,394,057 - 36,394,144RGD
Cytogenetic Map20q12-q13.1UniSTS
HuRef2036,421,481 - 36,421,568UniSTS
AL023695  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372039,676,842 - 39,676,933UniSTSGRCh37
Build 362039,110,256 - 39,110,347RGDNCBI36
Celera2036,387,410 - 36,387,501RGD
Cytogenetic Map20q12-q13.1UniSTS
HuRef2036,414,834 - 36,414,925UniSTS
WI-18785  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372039,752,368 - 39,752,493UniSTSGRCh37
Build 362039,185,782 - 39,185,907RGDNCBI36
Celera2036,462,937 - 36,463,062RGD
Cytogenetic Map20q12-q13.1UniSTS
Cytogenetic Map22q11.23UniSTS
HuRef2036,490,418 - 36,490,543UniSTS
GeneMap99-GB4 RH Map20229.47UniSTS
Whitehead-RH Map20245.8UniSTS
NCBI RH Map20364.6UniSTS
SHGC-12857  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372039,752,368 - 39,752,696UniSTSGRCh37
Build 362039,185,782 - 39,186,110RGDNCBI36
Celera2036,462,937 - 36,463,265RGD
Cytogenetic Map20q12-q13.1UniSTS
HuRef2036,490,418 - 36,490,746UniSTS
GeneMap99-GB4 RH Map20229.88UniSTS
Whitehead-YAC Contig Map20 UniSTS
RH71031  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372039,704,607 - 39,704,953UniSTSGRCh37
Build 362039,138,021 - 39,138,367RGDNCBI36
Celera2036,415,175 - 36,415,521RGD
Cytogenetic Map20q12-q13.1UniSTS
HuRef2036,442,599 - 36,442,945UniSTS
GeneMap99-GB4 RH Map20231.63UniSTS
NCBI RH Map20380.3UniSTS
AL031477  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372039,717,172 - 39,717,293UniSTSGRCh37
Build 362039,150,586 - 39,150,707RGDNCBI36
Celera2036,427,741 - 36,427,862RGD
Cytogenetic Map20q12-q13.1UniSTS
HuRef2036,455,164 - 36,455,285UniSTS
STS-AA009654  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372039,701,791 - 39,702,009UniSTSGRCh37
Build 362039,135,205 - 39,135,423RGDNCBI36
Celera2036,412,359 - 36,412,577RGD
Cytogenetic Map20q12-q13.1UniSTS
HuRef2036,439,783 - 36,440,001UniSTS
GeneMap99-GB4 RH Map20227.03UniSTS
NCBI RH Map20365.2UniSTS


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 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH003017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA690829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M27913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW117125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U07804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U07806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X16479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X52601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000361337   ⟹   ENSP00000354522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2041,028,822 - 41,124,487 (+)Ensembl
Ensembl Acc Id: ENST00000680945   ⟹   ENSP00000504935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2041,104,102 - 41,124,487 (+)Ensembl
Ensembl Acc Id: ENST00000681058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2041,028,914 - 41,124,310 (+)Ensembl
Ensembl Acc Id: ENST00000681113   ⟹   ENSP00000505788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2041,028,914 - 41,124,473 (+)Ensembl
Ensembl Acc Id: ENST00000681392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2041,076,183 - 41,124,473 (+)Ensembl
Ensembl Acc Id: ENST00000681884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2041,095,022 - 41,124,473 (+)Ensembl
RefSeq Acc Id: NM_003286   ⟹   NP_003277
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382041,028,822 - 41,124,487 (+)NCBI
GRCh372039,657,462 - 39,753,127 (+)ENTREZGENE
Build 362039,090,876 - 39,186,541 (+)NCBI Archive
HuRef2036,395,468 - 36,491,177 (+)ENTREZGENE
CHM1_12039,561,887 - 39,657,539 (+)NCBI
T2T-CHM13v2.02042,760,511 - 42,856,164 (+)NCBI
Sequence:
RefSeq Acc Id: NP_003277   ⟸   NM_003286
- UniProtKB: Q5TFY3 (UniProtKB/Swiss-Prot),   Q15610 (UniProtKB/Swiss-Prot),   Q12856 (UniProtKB/Swiss-Prot),   Q12855 (UniProtKB/Swiss-Prot),   O43256 (UniProtKB/Swiss-Prot),   E1P5W3 (UniProtKB/Swiss-Prot),   A8KA78 (UniProtKB/Swiss-Prot),   Q9UJN0 (UniProtKB/Swiss-Prot),   P11387 (UniProtKB/Swiss-Prot),   B9EG90 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000354522   ⟸   ENST00000361337
Ensembl Acc Id: ENSP00000505788   ⟸   ENST00000681113
Ensembl Acc Id: ENSP00000504935   ⟸   ENST00000680945
Protein Domains
DNA topoisomerase I eukaryotic-type   Topo IB-type catalytic

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P11387-F1-model_v2 AlphaFold P11387 1-765 view protein structure

Promoters
RGD ID:6799138
Promoter ID:HG_KWN:39433
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000080397,   UC010GGD.1,   UC010GGE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362039,090,504 - 39,091,004 (+)MPROMDB
RGD ID:13206935
Promoter ID:EPDNEW_H27048
Type:initiation region
Name:TOP1_1
Description:topoisomerase I
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
GRCh382041,028,823 - 41,028,883EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11986 AgrOrtholog
COSMIC TOP1 COSMIC
Ensembl Genes ENSG00000198900 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000361337 ENTREZGENE
  ENST00000361337.3 UniProtKB/Swiss-Prot
  ENST00000680945.1 UniProtKB/TrEMBL
  ENST00000681113.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.41 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.10.132.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.170.11.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000198900 GTEx
HGNC ID HGNC:11986 ENTREZGENE
Human Proteome Map TOP1 Human Proteome Map
InterPro DNA_brk_join_enz UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_topo_DNA_db_N_dom1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_topo_DNA_db_N_dom2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TopoI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TopoI_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TopoI_C_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TopoI_cat_a-hlx-sub_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TopoI_cat_a/b-sub_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TopoI_cat_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TopoI_DNA-bd_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TopoI_DNA-bd_euk_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TopoI_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Topoisomer_I_DNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Topoisomerase_IB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7150 ENTREZGENE
OMIM 126420 OMIM
PANTHER DNA TOPOISOMERASE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA TOPOISOMERASE I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Topo_C_assoc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Topoisom_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Topoisom_I_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA353 PharmGKB, RGD
PRINTS EUTPISMRASEI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TOPO_IB_2 UniProtKB/Swiss-Prot
  TOPOISOMERASE_I_EUK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TOPEUc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Eukaryotic DNA topoisomerase I, dispensable insert domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56349 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56741 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A7P0T852_HUMAN UniProtKB/TrEMBL
  A0A7P0T9R7_HUMAN UniProtKB/TrEMBL
  A8KA78 ENTREZGENE
  B9EG90 ENTREZGENE, UniProtKB/TrEMBL
  E1P5W3 ENTREZGENE
  O43256 ENTREZGENE
  P11387 ENTREZGENE
  Q12855 ENTREZGENE
  Q12856 ENTREZGENE
  Q15610 ENTREZGENE
  Q5TFY3 ENTREZGENE
  Q6NWZ5_HUMAN UniProtKB/TrEMBL
  Q6PK95_HUMAN UniProtKB/TrEMBL
  Q9BVT2_HUMAN UniProtKB/TrEMBL
  Q9UJN0 ENTREZGENE
  TOP1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8KA78 UniProtKB/Swiss-Prot
  E1P5W3 UniProtKB/Swiss-Prot
  O43256 UniProtKB/Swiss-Prot
  Q12855 UniProtKB/Swiss-Prot
  Q12856 UniProtKB/Swiss-Prot
  Q15610 UniProtKB/Swiss-Prot
  Q5TFY3 UniProtKB/Swiss-Prot
  Q9UJN0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-08-08 TOP1  DNA topoisomerase I  TOP1  topoisomerase (DNA) I  Symbol and/or name change 5135510 APPROVED