MGMT (O-6-methylguanine-DNA methyltransferase) - Rat Genome Database

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Gene: MGMT (O-6-methylguanine-DNA methyltransferase) Homo sapiens
Analyze
Symbol: MGMT
Name: O-6-methylguanine-DNA methyltransferase
RGD ID: 735904
HGNC Page HGNC:7059
Description: Predicted to enable methylated-DNA-[protein]-cysteine S-methyltransferase activity. Involved in negative regulation of apoptotic process and positive regulation of double-strand break repair. Located in nucleoplasm. Implicated in several diseases, including carcinoma (multiple); endocrine gland cancer (multiple); granulosa cell tumor; high grade glioma (multiple); and retinoblastoma. Biomarker of breast cancer; pancreatic cancer; and pancreatic ductal carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 0-6-methylguanine-dna methyltransferase; 6-O-methylguanine-DNA methyltransferase; methylated DNA protein cysteine methyltransferase; methylated-DNA--protein-cysteine methyltransferase; methylguanine-DNA methyltransferase; O-6-methylguanine-DNA-alkyltransferase; O6-methylguanine-DNA methyltransferase; O6-MGMT
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
GRCh3810129,467,241 - 129,770,983 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10129,467,190 - 129,770,983 (+)EnsemblGRCh38hg38GRCh38
GRCh3710131,265,505 - 131,569,247 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610131,155,456 - 131,455,358 (+)NCBINCBI36Build 36hg18NCBI36
Build 3410131,155,455 - 131,455,358NCBI
Celera10124,937,282 - 125,237,646 (+)NCBICelera
Cytogenetic Map10q26.3NCBI
HuRef10124,842,441 - 125,144,551 (+)NCBIHuRef
CHM1_110131,547,584 - 131,847,911 (+)NCBICHM1_1
T2T-CHM13v2.010130,392,352 - 130,697,970 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(-)-alpha-phellandrene  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
(S)-colchicine  (EXP)
1,2-dibromoethane  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,4-dioxane  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
1-nitropropane  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2'-deoxyguanosine  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-diaminotoluene  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-diaminotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-[cyclohexyl(oxo)methyl]-3,6,7,11b-tetrahydro-1H-pyrazino[2,1-a]isoquinolin-4-one  (ISO)
2-acetamidofluorene  (ISO)
2-hydroxypropanoic acid  (EXP)
2-nitro-p-phenylenediamine  (ISO)
2-nitrofluorene  (ISO)
2-nitropropane  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-dipyridyl disulfide  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-acetylaminofluorene  (ISO)
4-hydroperoxycyclophosphamide  (ISO)
4-hydroxyphenyl retinamide  (EXP)
4-nitro-1,2-phenylenediamine  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-azacytidine  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (EXP)
acrolein  (EXP)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
alpha-carotene  (EXP)
alpha-phellandrene  (ISO)
alpha-Zearalanol  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
anthracen-2-amine  (ISO)
aristolochic acid A  (EXP,ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
beta-carotene  (EXP)
bezafibrate  (ISO)
Biflorin  (EXP)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
bisphenol F  (EXP)
bortezomib  (EXP)
buta-1,3-diene  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
camptothecin  (EXP)
carbon nanotube  (ISO)
carboplatin  (ISO)
carmustine  (EXP,ISO)
chloroacetaldehyde  (EXP)
chloroethene  (ISO)
chloroform  (ISO)
chlorohydrocarbon  (EXP)
chromium(6+)  (EXP)
chrysene  (ISO)
cisplatin  (EXP)
clofibric acid  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (EXP)
corn oil  (ISO)
crocidolite asbestos  (EXP)
Cuprizon  (ISO)
curcumin  (EXP)
cyclophosphamide  (EXP)
cyclosporin A  (EXP)
cypermethrin  (ISO)
dacarbazine  (EXP,ISO)
deguelin  (EXP)
dexamethasone  (EXP,ISO)
diazinon  (EXP)
dibenz[a,h]anthracene  (ISO)
dichlorine  (ISO)
dichlorvos  (ISO)
diclofenac  (ISO)
diethyl maleate  (EXP)
diethylstilbestrol  (ISO)
dimethyl sulfate  (EXP)
disulfiram  (EXP,ISO)
doxorubicin  (EXP,ISO)
Echimidine  (ISO)
emodin  (ISO)
fenofibrate  (ISO)
finasteride  (ISO)
folic acid  (EXP)
fonofos  (EXP)
fotemustine  (EXP)
fulvestrant  (EXP)
furan  (ISO)
gallic acid  (EXP)
geldanamycin  (EXP)
gemcitabine  (EXP)
genistein  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
glutathione  (EXP)
glycidol  (ISO)
guanine  (EXP)
Heliotrine  (ISO)
hydralazine  (EXP)
hydroxyurea  (ISO)
inulin  (ISO)
iodomethane  (EXP)
irinotecan  (EXP)
ivermectin  (EXP)
kojic acid  (ISO)
L-ascorbic acid  (ISO)
Lasiocarpine  (ISO)
lead(0)  (EXP)
lomustine  (EXP)
manganese(II) chloride  (EXP,ISO)
methapyrilene  (EXP,ISO)
methimazole  (ISO)
methoxychlor  (ISO)
methyl isocyanate  (EXP)
methyl methanesulfonate  (EXP)
miconazole  (ISO)
mifepristone  (ISO)
mitomycin C  (EXP)
N,N-diethyl-m-toluamide  (ISO)
N,N-dimethyl-4-nitrosoaniline  (EXP,ISO)
N-acetyl-L-cysteine  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-ethyl-N-nitrosourea  (EXP,ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP,ISO)
N-methyl-N-nitrosourea  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-nitrosomorpholine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nimustine  (EXP,ISO)
nitrogen mustard  (EXP)
O-methyleugenol  (EXP)
ochratoxin A  (ISO)
oltipraz  (EXP)
ouabain  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
paclitaxel  (ISO)
paracetamol  (EXP,ISO)
parathion  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
permethrin  (ISO)
phenobarbital  (ISO)
phenytoin  (EXP)
PhIP  (ISO)
phorbol 13-acetate 12-myristate  (EXP,ISO)
phosphoramide mustard  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (EXP)
procarbazine  (EXP)
rac-lactic acid  (EXP)
radon atom  (EXP)
radon(0)  (EXP)
resveratrol  (EXP,ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (EXP)
SB 203580  (EXP)
senecionine  (ISO)
Senkirkine  (ISO)
silibinin  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
streptozocin  (EXP)
sulfadimethoxine  (ISO)
sulforaphane  (EXP)
tamoxifen  (EXP)
temozolomide  (EXP,ISO)
terbufos  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
thymoquinone  (EXP)
titanium dioxide  (ISO)
topotecan  (EXP,ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
trovafloxacin  (ISO)
valproic acid  (ISO)
vincristine  (EXP)
zinc atom  (EXP)
zinc oxide  (ISO)
zinc(0)  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Analysis of molecular pathways in sporadic neuroendocrine tumors of the gastro-entero-pancreatic system. Arnold CN, etal., Int J Cancer. 2007 May 15;120(10):2157-64.
2. CpG island methylation in carcinoid and pancreatic endocrine tumors. Chan AO, etal., Oncogene. 2003 Feb 13;22(6):924-34.
3. Significance of PML and p53 protein as molecular prognostic markers of gallbladder carcinomas. Chang HJ, etal., Pathol Oncol Res. 2007;13(4):326-35. Epub 2007 Dec 25.
4. Clinical implications of promoter hypermethylation in RASSF1A and MGMT in retinoblastoma. Choy KW, etal., Neoplasia. 2005 Mar;7(3):200-6.
5. Promoter hypermethylation of MGMT, CDH1, RAR-beta and SYK tumour suppressor genes in granulosa cell tumours (GCTs) of ovarian origin. Dhillon VS, etal., Br J Cancer. 2004 Feb 23;90(4):874-81.
6. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
7. Aberrant hypermethylation of tumor suppressor genes in pancreatic endocrine neoplasms. House MG, etal., Ann Surg. 2003 Sep;238(3):423-31; discussion 431-2.
8. Amino acid substitution polymorphisms of the DNA repair gene MGMT and the susceptibility to cervical carcinoma. Huang J, etal., Carcinogenesis. 2007 Jun;28(6):1314-22. Epub 2007 Jan 18.
9. Homogeneous MGMT immunoreactivity correlates with an unmethylated MGMT promoter status in brain metastases of various solid tumors. Ingold B, etal., PLoS One. 2009;4(3):e4775. Epub 2009 Mar 10.
10. A genotype of the polymorphic DNA repair gene MGMT is associated with de novo glioblastoma. Inoue R, etal., Neurol Res. 2003 Dec;25(8):875-9.
11. Selected polymorphisms of DNA repair genes and risk of pancreatic cancer. Jiao L, etal., Cancer Detect Prev. 2006;30(3):284-91. Epub 2006 Jul 17.
12. Methylation profiles of multiple CpG island loci in extrahepatic cholangiocarcinoma versus those of intrahepatic cholangiocarcinomas. Kim BH, etal., Arch Pathol Lab Med. 2007 Jun;131(6):923-30.
13. Reduced expression level of mgmt mRNA and beta-catenin gene mutation in rat colon tumors. Kinjo T, etal., Anticancer Res. 2006 Jul-Aug;26(4B):2829-32.
14. Deficient expression of O(6)-methylguanine-DNA methyltransferase combined with mismatch-repair proteins hMLH1 and hMSH2 is related to poor prognosis in human biliary tract carcinoma. Kohya N, etal., Ann Surg Oncol. 2002 May;9(4):371-9.
15. Role of O6-methylguanine-DNA methyltransferase in the resistance of pancreatic tumors to DNA alkylating agents. Kokkinakis DM, etal., Cancer Res. 1997 Dec 1;57(23):5360-8.
16. O6-methylguanine DNA methyltransferase deficiency and response to temozolomide-based therapy in patients with neuroendocrine tumors. Kulke MH, etal., Clin Cancer Res. 2009 Jan 1;15(1):338-45.
17. Exon 3 polymorphisms and haplotypes of O6-methylguanine-DNA methyltransferase and risk of bladder cancer in southern China: a case-control analysis. Li C, etal., Cancer Lett. 2005 Sep 8;227(1):49-57.
18. Aberrant methylation of different DNA repair genes demonstrates distinct prognostic value for esophageal cancer. Ling ZQ, etal., Dig Dis Sci. 2011 Oct;56(10):2992-3004. doi: 10.1007/s10620-011-1774-z. Epub 2011 Jun 15.
19. Frequent promoter hypermethylation and low expression of the MGMT gene in oligodendroglial tumors. Mollemann M, etal., Int J Cancer. 2005 Jan 20;113(3):379-85.
20. Inverse correlation between the expression of O6-methylguanine-DNA methyl transferase (MGMT) and p53 in breast cancer. Osanai T, etal., Jpn J Clin Oncol. 2005 Mar;35(3):121-5.
21. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
22. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
23. MGMT genotype modulates the associations between cigarette smoking, dietary antioxidants and breast cancer risk. Shen J, etal., Carcinogenesis. 2005 Dec;26(12):2131-7. Epub 2005 Jul 13.
24. Frequent promoter hypermethylation of the O6-Methylguanine-DNA Methyltransferase (MGMT) gene in testicular cancer. Smith-Sorensen B, etal., Oncogene. 2002 Dec 12;21(57):8878-84.
25. Inhibition of Poly(ADP-Ribose) Polymerase Enhances the Effect of Chemotherapy in an Animal Model of Regional Therapy for the Treatment of Advanced Extremity Malignant Melanoma. Toshimitsu H, etal., Ann Surg Oncol. 2010 Feb 24.
26. Variants of DNA repair genes and the risk of biliary tract cancers and stones: a population-based study in China. Zhang M, etal., Cancer Epidemiol Biomarkers Prev. 2008 Aug;17(8):2123-7.
Additional References at PubMed
PMID:1384961   PMID:1387001   PMID:1423836   PMID:1547538   PMID:1635460   PMID:1985934   PMID:2188979   PMID:2359121   PMID:2394694   PMID:2405387   PMID:2947677   PMID:6690082  
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PMID:23300791   PMID:23328811   PMID:23333005   PMID:23335782   PMID:23340988   PMID:23373238   PMID:23387271   PMID:23397067   PMID:23408861   PMID:23412991   PMID:23422094   PMID:23429602  
PMID:23460078   PMID:23494221   PMID:23494873   PMID:23505468   PMID:23532906   PMID:23640413   PMID:23662801   PMID:23683164   PMID:23705976   PMID:23716983   PMID:23760981   PMID:23804521  
PMID:23859014   PMID:23934736   PMID:23970362   PMID:23974656   PMID:24004112   PMID:24068788   PMID:24071855   PMID:24084248   PMID:24086261   PMID:24086516   PMID:24147153   PMID:24160898  
PMID:24163400   PMID:24203816   PMID:24238921   PMID:24284332   PMID:24301776   PMID:24366688   PMID:24374955   PMID:24377595   PMID:24380367   PMID:24388682   PMID:24390665   PMID:24397721  
PMID:24398011   PMID:24454798   PMID:24510240   PMID:24519517   PMID:24519900   PMID:24568970   PMID:24634373   PMID:24690322   PMID:24706805   PMID:24709436   PMID:24718901   PMID:24755707  
PMID:24771251   PMID:24801985   PMID:24853176   PMID:24938706   PMID:24949678   PMID:24991542   PMID:24995467   PMID:25008999   PMID:25015189   PMID:25027022   PMID:25031012   PMID:25031184  
PMID:25080506   PMID:25105699   PMID:25120800   PMID:25130966   PMID:25152984   PMID:25160658   PMID:25163906   PMID:25169493   PMID:25175833   PMID:25211033   PMID:25230908   PMID:25391970  
PMID:25400033   PMID:25443735   PMID:25455102   PMID:25467143   PMID:25520135   PMID:25575938   PMID:25579142   PMID:25584486   PMID:25585924   PMID:25586538   PMID:25596081   PMID:25605197  
PMID:25638164   PMID:25646794   PMID:25716203   PMID:25723791   PMID:25773792   PMID:25777962   PMID:25820821   PMID:25864751   PMID:25875800   PMID:25908636   PMID:25973069   PMID:26011121  
PMID:26022161   PMID:26035292   PMID:26118907   PMID:26183928   PMID:26202203   PMID:26208482   PMID:26213212   PMID:26249244   PMID:26261487   PMID:26276726   PMID:26289551   PMID:26320189  
PMID:26336131   PMID:26370119   PMID:26400193   PMID:26420420   PMID:26447477   PMID:26648123   PMID:26682634   PMID:26692563   PMID:26709653   PMID:26717998   PMID:26753647   PMID:26808114  
PMID:26810771   PMID:26823825   PMID:26883115   PMID:26892260   PMID:26916096   PMID:26943799   PMID:26976975   PMID:26980050   PMID:27002765   PMID:27006309   PMID:27067808   PMID:27153440  
PMID:27221916   PMID:27253461   PMID:27267851   PMID:27268659   PMID:27291049   PMID:27306526   PMID:27353036   PMID:27409829   PMID:27468718   PMID:27494112   PMID:27503138   PMID:27526690  
PMID:27533246   PMID:27595933   PMID:27603910   PMID:27643594   PMID:27733166   PMID:27764705   PMID:27824946   PMID:27834917   PMID:27918718   PMID:27921166   PMID:27978414   PMID:28135856  
PMID:28152515   PMID:28215707   PMID:28230024   PMID:28254081   PMID:28266716   PMID:28275120   PMID:28302331   PMID:28328619   PMID:28384044   PMID:28405827   PMID:28409559   PMID:28425046  
PMID:28436299   PMID:28445279   PMID:28458179   PMID:28468586   PMID:28476818   PMID:28486243   PMID:28573642   PMID:28574607   PMID:28609363   PMID:28621225   PMID:28643947   PMID:28720507  
PMID:28739733   PMID:28748002   PMID:28753207   PMID:28785873   PMID:28848211   PMID:28856744   PMID:28986566   PMID:29016808   PMID:29026176   PMID:29036186   PMID:29080834   PMID:29150792  
PMID:29195029   PMID:29218894   PMID:29246238   PMID:29258097   PMID:29298992   PMID:29308563   PMID:29362385   PMID:29370316   PMID:29385852   PMID:29425743   PMID:29480969   PMID:29509190  
PMID:29510343   PMID:29521523   PMID:29540532   PMID:29601666   PMID:29712977   PMID:29726772   PMID:29735403   PMID:29801405   PMID:29882028   PMID:29949196   PMID:29955793   PMID:29984907  
PMID:30008386   PMID:30038102   PMID:30040894   PMID:30049288   PMID:30194078   PMID:30218185   PMID:30232235   PMID:30343277   PMID:30379684   PMID:30430425   PMID:30520434   PMID:30542120  
PMID:30616628   PMID:30677446   PMID:30686591   PMID:30718431   PMID:30758983   PMID:30785779   PMID:30811507   PMID:30824408   PMID:30938887   PMID:30945122   PMID:31091453   PMID:31108342  
PMID:31127647   PMID:31141785   PMID:31190217   PMID:31202904   PMID:31264147   PMID:31366977   PMID:31373397   PMID:31422371   PMID:31505292   PMID:31574102   PMID:31653608   PMID:31701343  
PMID:31704598   PMID:31784096   PMID:31808217   PMID:31823165   PMID:32005184   PMID:32066879   PMID:32086739   PMID:32166314   PMID:32283495   PMID:32321646   PMID:32324779   PMID:32348734  
PMID:32361246   PMID:32535722   PMID:32563269   PMID:32688383   PMID:32753598   PMID:32841306   PMID:32851059   PMID:32867455   PMID:32957941   PMID:33001310   PMID:33023393   PMID:33029531  
PMID:33040807   PMID:33066633   PMID:33097678   PMID:33116181   PMID:33184319   PMID:33203454   PMID:33287738   PMID:33318498   PMID:33335215   PMID:33432978   PMID:33480240   PMID:33562724  
PMID:33581781   PMID:33588926   PMID:33632732   PMID:33663593   PMID:33664111   PMID:33684406   PMID:33750464   PMID:33801310   PMID:33830235   PMID:33838014   PMID:33917711   PMID:33952487  
PMID:34016221   PMID:34031266   PMID:34072831   PMID:34185258   PMID:34201219   PMID:34202589   PMID:34461101   PMID:34486380   PMID:34506909   PMID:34629798   PMID:34651448   PMID:34830407  
PMID:34958003   PMID:34969742   PMID:34997427   PMID:35103907   PMID:35174383   PMID:35256949   PMID:35379142   PMID:35397757   PMID:35671254   PMID:35708896   PMID:35738587   PMID:35819319  
PMID:35944360   PMID:36089195   PMID:36198483   PMID:36242092   PMID:36261081   PMID:36319884   PMID:36361838   PMID:36525166   PMID:36537216   PMID:36583449   PMID:36585213   PMID:36675126  
PMID:36680944   PMID:36694322   PMID:36800777   PMID:36852768   PMID:36948276   PMID:36961398   PMID:37047153   PMID:37161026   PMID:37200021   PMID:37289281   PMID:37371109   PMID:37382159  
PMID:37474746   PMID:37510370   PMID:37634205   PMID:37641495   PMID:37793472   PMID:37824772   PMID:37919784   PMID:37983188   PMID:37988281   PMID:38054227   PMID:38113892   PMID:38168519  
PMID:38203783   PMID:38277015   PMID:38288307   PMID:38520591   PMID:38542081   PMID:38827324   PMID:39029475   PMID:39041891   PMID:39369843  


Genomics

Comparative Map Data
MGMT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810129,467,241 - 129,770,983 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10129,467,190 - 129,770,983 (+)EnsemblGRCh38hg38GRCh38
GRCh3710131,265,505 - 131,569,247 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610131,155,456 - 131,455,358 (+)NCBINCBI36Build 36hg18NCBI36
Build 3410131,155,455 - 131,455,358NCBI
Celera10124,937,282 - 125,237,646 (+)NCBICelera
Cytogenetic Map10q26.3NCBI
HuRef10124,842,441 - 125,144,551 (+)NCBIHuRef
CHM1_110131,547,584 - 131,847,911 (+)NCBICHM1_1
T2T-CHM13v2.010130,392,352 - 130,697,970 (+)NCBIT2T-CHM13v2.0
Mgmt
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397136,496,315 - 136,732,001 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7136,496,343 - 136,731,995 (+)EnsemblGRCm39 Ensembl
GRCm387136,894,463 - 137,128,193 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7136,894,614 - 137,130,266 (+)EnsemblGRCm38mm10GRCm38
MGSCv377144,086,294 - 144,319,871 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367136,789,611 - 136,966,732 (+)NCBIMGSCv36mm8
Celera7136,716,995 - 136,951,061 (+)NCBICelera
Cytogenetic Map7F3NCBI
cM Map782.07NCBI
Mgmt
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81201,140,832 - 201,367,481 (+)NCBIGRCr8
mRatBN7.21191,710,980 - 191,937,760 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1191,710,930 - 191,937,756 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1200,080,430 - 200,306,973 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01207,225,081 - 207,457,730 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01199,898,541 - 200,131,185 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01209,237,255 - 209,464,189 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1209,237,233 - 209,464,190 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01216,161,345 - 216,388,311 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41196,629,366 - 196,866,937 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11196,779,357 - 197,016,929 (+)NCBI
Celera1189,418,812 - 189,644,779 (+)NCBICelera
Cytogenetic Map1q41NCBI
Mgmt
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554777,102,977 - 7,376,530 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554777,103,035 - 7,375,073 (+)NCBIChiLan1.0ChiLan1.0
MGMT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28141,356,414 - 141,663,365 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110141,361,768 - 141,667,738 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v010126,059,701 - 126,365,850 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.110130,305,459 - 130,609,532 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10130,305,485 - 130,609,422 (+)Ensemblpanpan1.1panPan2
MGMT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12838,204,611 - 38,427,482 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2838,204,610 - 38,427,380 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2838,200,970 - 38,481,621 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02838,778,341 - 39,060,486 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2838,778,349 - 39,060,187 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12838,267,067 - 38,546,986 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02838,254,871 - 38,535,366 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02838,508,988 - 38,789,325 (+)NCBIUU_Cfam_GSD_1.0
Mgmt
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244072138,634,604 - 8,867,176 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648616,744,570 - 16,923,543 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648616,744,607 - 16,923,209 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MGMT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14138,499,309 - 138,771,540 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114138,502,005 - 138,771,543 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214150,607,175 - 150,887,520 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MGMT
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.19122,089,768 - 122,376,320 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604883,466,550 - 83,760,049 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mgmt
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473717,271,992 - 17,528,889 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473717,271,881 - 17,619,123 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MGMT
47 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3 copy number gain not provided [RCV000847820] Chr10:114544537..135427143 [GRCh37]
Chr10:10q25.2-26.3
pathogenic
GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3 copy number gain See cases [RCV000051218] Chr10:111313099..133620674 [GRCh38]
Chr10:113072857..135434178 [GRCh37]
Chr10:113062847..135284168 [NCBI36]
Chr10:10q25.2-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1 copy number loss See cases [RCV000051150] Chr10:123307835..133620674 [GRCh38]
Chr10:125067351..135434178 [GRCh37]
Chr10:125057341..135284168 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:129324053-129974086)x3 copy number gain See cases [RCV000051030] Chr10:129324053..129974086 [GRCh38]
Chr10:131122317..131772350 [GRCh37]
Chr10:131012307..131662340 [NCBI36]
Chr10:10q26.3
uncertain significance
GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1 copy number loss See cases [RCV000051103] Chr10:120454430..133620674 [GRCh38]
Chr10:122213942..135434178 [GRCh37]
Chr10:122203932..135284168 [NCBI36]
Chr10:10q26.12-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1 copy number loss See cases [RCV000051069] Chr10:122265252..133620674 [GRCh38]
Chr10:124024767..135434178 [GRCh37]
Chr10:124014757..135284168 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:127852284-129780378)x3 copy number gain See cases [RCV000051656] Chr10:127852284..129780378 [GRCh38]
Chr10:129650548..131578642 [GRCh37]
Chr10:129540538..131468632 [NCBI36]
Chr10:10q26.2-26.3
uncertain significance
GRCh38/hg38 10q26.2-26.3(chr10:126256585-133613938)x1 copy number loss See cases [RCV000052612] Chr10:126256585..133613938 [GRCh38]
Chr10:127945154..135427442 [GRCh37]
Chr10:127935144..135277432 [NCBI36]
Chr10:10q26.2-26.3
pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:127500483-133620674)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052613]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052613]|See cases [RCV000052613] Chr10:127500483..133620674 [GRCh38]
Chr10:129298747..135434178 [GRCh37]
Chr10:129188737..135284168 [NCBI36]
Chr10:10q26.2-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:129673966-133613938)x1 copy number loss See cases [RCV000052614] Chr10:129673966..133613938 [GRCh38]
Chr10:131472230..135427442 [GRCh37]
Chr10:131362220..135277432 [NCBI36]
Chr10:10q26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:129758596-133620674)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052615]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052615]|See cases [RCV000052615] Chr10:129758596..133620674 [GRCh38]
Chr10:131556860..135434178 [GRCh37]
Chr10:131446850..135284168 [NCBI36]
Chr10:10q26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:129763050-131379342)x1 copy number loss See cases [RCV000052616] Chr10:129763050..131379342 [GRCh38]
Chr10:131561314..133177605 [GRCh37]
Chr10:131451304..133067595 [NCBI36]
Chr10:10q26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1 copy number loss See cases [RCV000052611] Chr10:123580320..133558988 [GRCh38]
Chr10:125339836..135372492 [GRCh37]
Chr10:125329826..135222482 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3
pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 copy number gain See cases [RCV000053564] Chr10:100194215..132432797 [GRCh38]
Chr10:101953972..134246301 [GRCh37]
Chr10:101943962..134096291 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
GRCh38/hg38 10q25.1-26.3(chr10:106925303-133620815)x3 copy number gain See cases [RCV000053588] Chr10:106925303..133620815 [GRCh38]
Chr10:108685061..135434319 [GRCh37]
Chr10:108675051..135284309 [NCBI36]
Chr10:10q25.1-26.3
pathogenic
GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3 copy number gain See cases [RCV000053589] Chr10:117866565..133554210 [GRCh38]
Chr10:119626076..135367714 [GRCh37]
Chr10:119616066..135217704 [NCBI36]
Chr10:10q26.11-26.3
pathogenic
NM_002412.3(MGMT):c.219-62687C>G single nucleotide variant Lung cancer [RCV000108814] Chr10:129645208 [GRCh38]
Chr10:131443472 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3 copy number gain See cases [RCV000133688] Chr10:108102587..133620674 [GRCh38]
Chr10:109862345..135434178 [GRCh37]
Chr10:109852335..135284168 [NCBI36]
Chr10:10q25.1-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:125657472-133620674)x1 copy number loss See cases [RCV000133741] Chr10:125657472..133620674 [GRCh38]
Chr10:127346041..135434178 [GRCh37]
Chr10:127336031..135284168 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:126730896-133620609)x1 copy number loss See cases [RCV000134040] Chr10:126730896..133620609 [GRCh38]
Chr10:128419465..135434113 [GRCh37]
Chr10:128409455..135284103 [NCBI36]
Chr10:10q26.2-26.3
pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:127640489-132776585)x1 copy number loss See cases [RCV000135728] Chr10:127640489..132776585 [GRCh38]
Chr10:129438753..134590089 [GRCh37]
Chr10:129328743..134440079 [NCBI36]
Chr10:10q26.2-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:129549258-133620674)x1 copy number loss See cases [RCV000135547] Chr10:129549258..133620674 [GRCh38]
Chr10:131347522..135434178 [GRCh37]
Chr10:131237512..135284168 [NCBI36]
Chr10:10q26.3
pathogenic|likely benign
GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1 copy number loss See cases [RCV000136028] Chr10:124473108..133620609 [GRCh38]
Chr10:126161677..135434113 [GRCh37]
Chr10:126151667..135284103 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:128872419-133564028)x3 copy number gain See cases [RCV000136888] Chr10:128872419..133564028 [GRCh38]
Chr10:130670683..135377532 [GRCh37]
Chr10:130560673..135227522 [NCBI36]
Chr10:10q26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1 copy number loss See cases [RCV000137653] Chr10:124834858..133622588 [GRCh38]
Chr10:126523427..135436092 [GRCh37]
Chr10:126513417..135286082 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:129293631-129810158)x3 copy number gain See cases [RCV000137637] Chr10:129293631..129810158 [GRCh38]
Chr10:131091895..131608422 [GRCh37]
Chr10:130981885..131498412 [NCBI36]
Chr10:10q26.3
uncertain significance
GRCh38/hg38 10q26.2-26.3(chr10:128549913-133622588)x1 copy number loss See cases [RCV000138159] Chr10:128549913..133622588 [GRCh38]
Chr10:130348177..135436092 [GRCh37]
Chr10:130238167..135286082 [NCBI36]
Chr10:10q26.2-26.3
pathogenic|uncertain significance
GRCh38/hg38 10q26.2-26.3(chr10:127849717-133622588)x1 copy number loss See cases [RCV000138160] Chr10:127849717..133622588 [GRCh38]
Chr10:129647981..135436092 [GRCh37]
Chr10:129537971..135286082 [NCBI36]
Chr10:10q26.2-26.3
pathogenic|likely benign
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 copy number gain See cases [RCV000137747] Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
GRCh38/hg38 10q26.3(chr10:129427520-133622588)x1 copy number loss See cases [RCV000137959] Chr10:129427520..133622588 [GRCh38]
Chr10:131225784..135436092 [GRCh37]
Chr10:131115774..135286082 [NCBI36]
Chr10:10q26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1 copy number loss See cases [RCV000138435] Chr10:122881207..133620609 [GRCh38]
Chr10:124640723..135434113 [GRCh37]
Chr10:124630713..135284103 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1 copy number loss See cases [RCV000139344] Chr10:120970558..133622588 [GRCh38]
Chr10:122730071..135436092 [GRCh37]
Chr10:122720061..135286082 [NCBI36]
Chr10:10q26.12-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:125316124-130269667)x1 copy number loss See cases [RCV000139127] Chr10:125316124..130269667 [GRCh38]
Chr10:127004693..132067931 [GRCh37]
Chr10:126994683..131957921 [NCBI36]
Chr10:10q26.13-26.3
likely benign
GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1 copy number loss See cases [RCV000139588] Chr10:125021995..133620609 [GRCh38]
Chr10:126710564..135434113 [GRCh37]
Chr10:126700554..135284103 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3 copy number gain See cases [RCV000141337] Chr10:125452905..133785874 [GRCh38]
Chr10:127141474..135523199 [GRCh37]
Chr10:127131464..135373189 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:127664168-133622588)x3 copy number gain See cases [RCV000140974] Chr10:127664168..133622588 [GRCh38]
Chr10:129462432..135436092 [GRCh37]
Chr10:129352422..135286082 [NCBI36]
Chr10:10q26.2-26.3
likely pathogenic
GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3 copy number gain See cases [RCV000142005] Chr10:119707856..133613639 [GRCh38]
Chr10:121467368..135427143 [GRCh37]
Chr10:121457358..135277133 [NCBI36]
Chr10:10q26.11-26.3
pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:127507503-129782976)x3 copy number gain See cases [RCV000141892] Chr10:127507503..129782976 [GRCh38]
Chr10:129305767..131581240 [GRCh37]
Chr10:129195757..131471230 [NCBI36]
Chr10:10q26.2-26.3
uncertain significance
GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1 copy number loss See cases [RCV000142441] Chr10:121588992..133620674 [GRCh38]
Chr10:123348506..135434178 [GRCh37]
Chr10:123338496..135284168 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1 copy number loss See cases [RCV000142737] Chr10:121918547..133620674 [GRCh38]
Chr10:123678062..135434178 [GRCh37]
Chr10:123668052..135284168 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:127435985-133622588)x1 copy number loss See cases [RCV000143241] Chr10:127435985..133622588 [GRCh38]
Chr10:129234249..135436092 [GRCh37]
Chr10:129124239..135286082 [NCBI36]
Chr10:10q26.2-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1 copy number loss See cases [RCV000143623] Chr10:123986772..133613639 [GRCh38]
Chr10:125746288..135427143 [GRCh37]
Chr10:125736278..135277133 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1 copy number loss See cases [RCV000143544] Chr10:123576393..133613639 [GRCh38]
Chr10:125335909..135427143 [GRCh37]
Chr10:125325899..135277133 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:126794646-133613639)x1 copy number loss See cases [RCV000143615] Chr10:126794646..133613639 [GRCh38]
Chr10:128483215..135427143 [GRCh37]
Chr10:128473205..135277133 [NCBI36]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:123731209-135353867)x1 copy number loss See cases [RCV000203440] Chr10:123731209..135353867 [GRCh37]
Chr10:10q26.13-26.3
pathogenic|likely pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 copy number gain See cases [RCV000240457] Chr10:103288313..135512075 [GRCh37]
Chr10:10q24.32-26.3
pathogenic
NM_002412.5(MGMT):c.27C>T (p.Arg9=) single nucleotide variant not provided [RCV000268487] Chr10:129536279 [GRCh38]
Chr10:131334543 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143) copy number loss Distal 10q deletion syndrome [RCV003319590] Chr10:123477898..135427143 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
NM_002412.5(MGMT):c.88G>A (p.Glu30Lys) single nucleotide variant not provided [RCV000973453]|not specified [RCV000733594] Chr10:129536340 [GRCh38]
Chr10:131334604 [GRCh37]
Chr10:10q26.3
likely benign
GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)x3 copy number gain See cases [RCV000449169] Chr10:122125760..135062972 [GRCh37]
Chr10:10q26.12-26.3
likely pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:124147428-135370736)x1 copy number loss See cases [RCV000449336] Chr10:124147428..135370736 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:104633712-135427143)x3 copy number gain See cases [RCV000449386] Chr10:104633712..135427143 [GRCh37]
Chr10:10q24.32-26.3
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)x1 copy number loss See cases [RCV000446095] Chr10:122343861..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3
pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:128465436-135427143)x1 copy number loss See cases [RCV000447132] Chr10:128465436..135427143 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
NM_002412.5(MGMT):c.-28C>T single nucleotide variant Glioblastoma [RCV000431439] Chr10:129467281 [GRCh38]
Chr10:131265545 [GRCh37]
Chr10:10q26.3
not provided
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129825453-135427143)x1 copy number loss See cases [RCV000511570] Chr10:129825453..135427143 [GRCh37]
Chr10:10q26.2-26.3
likely pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:127658004-135427143)x1 copy number loss See cases [RCV000511813] Chr10:127658004..135427143 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3 copy number gain See cases [RCV000510813] Chr10:106003533..135427143 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3
pathogenic
GRCh37/hg19 10q26.3(chr10:130693843-134772865)x1 copy number loss See cases [RCV000511280] Chr10:130693843..134772865 [GRCh37]
Chr10:10q26.3
likely pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
GRCh37/hg19 10q26.2-26.3(chr10:129007673-135427143)x3 copy number gain See cases [RCV000512398] Chr10:129007673..135427143 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q26.3(chr10:131422360-131474474)x1 copy number loss not provided [RCV000683177] Chr10:131422360..131474474 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.13-26.3(chr10:127375792-135427143)x1 copy number loss not provided [RCV000683283] Chr10:127375792..135427143 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1 copy number loss not provided [RCV000683287] Chr10:122509781..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:125450893-135427143)x1 copy number loss not provided [RCV000683285] Chr10:125450893..135427143 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1 copy number loss not provided [RCV000683286] Chr10:123019239..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3 copy number gain not provided [RCV000683288] Chr10:121269222..135427143 [GRCh37]
Chr10:10q26.11-26.3
pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3 copy number gain not provided [RCV000683290] Chr10:105613040..135427143 [GRCh37]
Chr10:10q24.33-26.3
pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129728658-131585151)x3 copy number gain not provided [RCV000683268] Chr10:129728658..131585151 [GRCh37]
Chr10:10q26.2-26.3
likely benign
GRCh37/hg19 10q26.12-26.3(chr10:122443197-135477883)x1 copy number loss not provided [RCV000737305] Chr10:122443197..135477883 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129454892-135447971)x1 copy number loss not provided [RCV000737323] Chr10:129454892..135447971 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129830593-132635031)x1 copy number loss not provided [RCV000737325] Chr10:129830593..132635031 [GRCh37]
Chr10:10q26.2-26.3
benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_002412.5(MGMT):c.261C>T (p.Pro87=) single nucleotide variant not provided [RCV000895514] Chr10:129708030 [GRCh38]
Chr10:131506294 [GRCh37]
Chr10:10q26.3
likely benign
NM_002412.5(MGMT):c.153G>A (p.Ala51=) single nucleotide variant not provided [RCV000885017] Chr10:129707922 [GRCh38]
Chr10:131506186 [GRCh37]
Chr10:10q26.3
likely benign
GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095) copy number gain not provided [RCV000767665] Chr10:110022170..135439095 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129009772-135427143)x1 copy number loss not provided [RCV001006362] Chr10:129009772..135427143 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:124988334-135427143)x3 copy number gain not provided [RCV000848791] Chr10:124988334..135427143 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
NM_002412.5(MGMT):c.-64C>T single nucleotide variant not provided [RCV000919076] Chr10:129467245 [GRCh38]
Chr10:131265509 [GRCh37]
Chr10:10q26.3
likely benign
GRCh37/hg19 10q26.2-26.3(chr10:129381095-135427143)x1 copy number loss not provided [RCV001006364] Chr10:129381095..135427143 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q26.3(chr10:131250212-131512933)x1 copy number loss not provided [RCV001006365] Chr10:131250212..131512933 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.3(chr10:131271219-131422362)x1 copy number loss not provided [RCV001006366] Chr10:131271219..131422362 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.3(chr10:131243689-132131959)x3,4 copy number gain not provided [RCV001594474] Chr10:131243689..132131959 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3 copy number gain not provided [RCV001006356] Chr10:119996339..135427143 [GRCh37]
Chr10:10q26.11-26.3
pathogenic
NM_002412.5(MGMT):c.533A>G (p.Lys178Arg) single nucleotide variant not provided [RCV001616833] Chr10:129766906 [GRCh38]
Chr10:131565170 [GRCh37]
Chr10:10q26.3
benign
NC_000010.10:g.129942146_132848717del deletion Paroxysmal dyskinesia [RCV001003862] Chr10:129942146..132848717 [GRCh37]
Chr10:10q26.2-26.3
likely pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129605105-135427143)x1 copy number loss See cases [RCV002285041] Chr10:129605105..135427143 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129031265-135427143)x1 copy number loss not provided [RCV001259085] Chr10:129031265..135427143 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3 copy number gain not provided [RCV001537903] Chr10:118247181..135435319 [GRCh37]
Chr10:10q25.3-26.3
pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129483682-135434178) copy number loss Global developmental delay [RCV001352664] Chr10:129483682..135434178 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
Single allele deletion Distal 10q deletion syndrome [RCV001391670] Chr10:127548166..135440251 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q26.3(chr10:131542049-132107231)x1 copy number loss not provided [RCV001594473] Chr10:131542049..132107231 [GRCh37]
Chr10:10q26.3
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1 copy number loss See cases [RCV001526488] Chr10:122785023..135457222 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:129914228-135427143) copy number loss not specified [RCV002052908] Chr10:129914228..135427143 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q26.3(chr10:131324081-132362298) copy number gain not specified [RCV002052909] Chr10:131324081..132362298 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972) copy number gain not specified [RCV002052894] Chr10:122125760..135062972 [GRCh37]
Chr10:10q26.12-26.3
likely pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143) copy number loss not specified [RCV002052895] Chr10:122343861..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143) copy number gain not specified [RCV002052891] Chr10:108455687..135427143 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:128465436-135427143) copy number loss not specified [RCV002052902] Chr10:128465436..135427143 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:126914469-135427143)x1 copy number loss See cases [RCV002292397] Chr10:126914469..135427143 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:127198625-135427143)x3 copy number gain See cases [RCV002292400] Chr10:127198625..135427143 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:128877896-131842835)x1 copy number loss not provided [RCV002472530] Chr10:128877896..131842835 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:126662496-133985966)x3 copy number gain not provided [RCV002474692] Chr10:126662496..133985966 [GRCh37]
Chr10:10q26.13-26.3
uncertain significance
GRCh37/hg19 10q26.2-26.3(chr10:130043370-135345340)x1 copy number loss not provided [RCV002473957] Chr10:130043370..135345340 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
NM_002412.5(MGMT):c.74A>G (p.Glu25Gly) single nucleotide variant not specified [RCV004240245] Chr10:129536326 [GRCh38]
Chr10:131334590 [GRCh37]
Chr10:10q26.3
uncertain significance
NM_002412.5(MGMT):c.500G>C (p.Trp167Ser) single nucleotide variant not specified [RCV004078616] Chr10:129766873 [GRCh38]
Chr10:131565137 [GRCh37]
Chr10:10q26.3
uncertain significance
NM_002412.5(MGMT):c.223G>A (p.Ala75Thr) single nucleotide variant not specified [RCV004120118] Chr10:129707992 [GRCh38]
Chr10:131506256 [GRCh37]
Chr10:10q26.3
uncertain significance
NM_002412.5(MGMT):c.245C>T (p.Pro82Leu) single nucleotide variant not specified [RCV004098230] Chr10:129708014 [GRCh38]
Chr10:131506278 [GRCh37]
Chr10:10q26.3
uncertain significance
NM_002412.5(MGMT):c.284C>G (p.Thr95Ser) single nucleotide variant not specified [RCV004126329] Chr10:129759211 [GRCh38]
Chr10:131557475 [GRCh37]
Chr10:10q26.3
uncertain significance
NM_002412.5(MGMT):c.-54C>G single nucleotide variant not specified [RCV004116539] Chr10:129467255 [GRCh38]
Chr10:131265519 [GRCh37]
Chr10:10q26.3
uncertain significance
NM_002412.5(MGMT):c.257A>G (p.His86Arg) single nucleotide variant not specified [RCV004133747] Chr10:129708026 [GRCh38]
Chr10:131506290 [GRCh37]
Chr10:10q26.3
uncertain significance
NM_002412.5(MGMT):c.238C>G (p.Pro80Ala) single nucleotide variant not specified [RCV004322973] Chr10:129708007 [GRCh38]
Chr10:131506271 [GRCh37]
Chr10:10q26.3
uncertain significance
NM_002412.5(MGMT):c.543G>T (p.Leu181Phe) single nucleotide variant not specified [RCV004263258] Chr10:129766916 [GRCh38]
Chr10:131565180 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1 copy number loss not provided [RCV003222684] Chr10:122610933..135439810 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
NM_002412.5(MGMT):c.568G>A (p.Ala190Thr) single nucleotide variant not specified [RCV004249473] Chr10:129766941 [GRCh38]
Chr10:131565205 [GRCh37]
Chr10:10q26.3
likely benign
NM_002412.5(MGMT):c.457G>A (p.Gly153Arg) single nucleotide variant not specified [RCV004269698] Chr10:129766830 [GRCh38]
Chr10:131565094 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3
pathogenic
NM_002412.5(MGMT):c.241G>A (p.Val81Met) single nucleotide variant not specified [RCV004334055] Chr10:129708010 [GRCh38]
Chr10:131506274 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3
pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1 copy number loss Distal 10q deletion syndrome [RCV003329543] Chr10:124895517..135440296 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
NM_002412.5(MGMT):c.97C>T (p.Leu33Phe) single nucleotide variant not specified [RCV004342146] Chr10:129536349 [GRCh38]
Chr10:131334613 [GRCh37]
Chr10:10q26.3
uncertain significance
NM_002412.5(MGMT):c.542T>C (p.Leu181Ser) single nucleotide variant not specified [RCV004344576] Chr10:129766915 [GRCh38]
Chr10:131565179 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.2-26.3(chr10:128289206-135427143)x1 copy number loss Distal 10q deletion syndrome [RCV003458182] Chr10:128289206..135427143 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:128925940-135427143)x1 copy number loss not provided [RCV003483108] Chr10:128925940..135427143 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3 copy number gain Distal trisomy 10q [RCV003458955] Chr10:111378692..135427143 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3 copy number gain not provided [RCV003484817] Chr10:111447991..133435388 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1 copy number loss Duane syndrome type 1 [RCV003984306] Chr10:125976998..133427130 [GRCh38]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q26.3(chr10:131398569-135427143)x1 copy number loss not specified [RCV003986883] Chr10:131398569..135427143 [GRCh37]
Chr10:10q26.3
pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:125987494-135427143)x1 copy number loss not specified [RCV003986904] Chr10:125987494..135427143 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
GRCh37/hg19 10q26.2-26.3(chr10:130438796-131875311)x1 copy number loss not specified [RCV003986871] Chr10:130438796..131875311 [GRCh37]
Chr10:10q26.2-26.3
pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:126127397-135427143)x1 copy number loss not specified [RCV003986878] Chr10:126127397..135427143 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 copy number gain not specified [RCV003986893] Chr10:95078198..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1 copy number loss not provided [RCV004442821] Chr10:122331280..135426386 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
NM_002412.5(MGMT):c.377C>G (p.Ala126Gly) single nucleotide variant not specified [RCV004417293] Chr10:129759304 [GRCh38]
Chr10:131557568 [GRCh37]
Chr10:10q26.3
uncertain significance
NM_002412.5(MGMT):c.421A>G (p.Ile141Val) single nucleotide variant not specified [RCV004417294] Chr10:129766794 [GRCh38]
Chr10:131565058 [GRCh37]
Chr10:10q26.3
uncertain significance
NM_002412.5(MGMT):c.167C>T (p.Pro56Leu) single nucleotide variant not specified [RCV004417290] Chr10:129707936 [GRCh38]
Chr10:131506200 [GRCh37]
Chr10:10q26.3
uncertain significance
NM_002412.5(MGMT):c.287G>A (p.Arg96Lys) single nucleotide variant not specified [RCV004417292] Chr10:129759214 [GRCh38]
Chr10:131557478 [GRCh37]
Chr10:10q26.3
uncertain significance
NM_002412.5(MGMT):c.26G>T (p.Arg9Leu) single nucleotide variant not specified [RCV004417289] Chr10:129536278 [GRCh38]
Chr10:131334542 [GRCh37]
Chr10:10q26.3
uncertain significance
NM_002412.5(MGMT):c.-60G>T single nucleotide variant not specified [RCV004417291] Chr10:129467249 [GRCh38]
Chr10:131265513 [GRCh37]
Chr10:10q26.3
uncertain significance
GRCh37/hg19 10q26.3(chr10:131299771-135441274)x1 copy number loss not provided [RCV003885450] Chr10:131299771..135441274 [GRCh37]
Chr10:10q26.3
pathogenic
NM_002412.5(MGMT):c.617G>A (p.Arg206Gln) single nucleotide variant not specified [RCV004645576] Chr10:129766990 [GRCh38]
Chr10:131565254 [GRCh37]
Chr10:10q26.3
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR181Dhsa-miR-181d-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI22570426
MIR181Dhsa-miR-181d-5pOncomiRDBexternal_infoNANA22570426

Predicted Target Of
Summary Value
Count of predictions:1180
Count of miRNA genes:679
Interacting mature miRNAs:766
Transcripts:ENST00000306010, ENST00000462672, ENST00000482547, ENST00000482653
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
597163798GWAS1259872_Hserum metabolite measurement QTL GWAS1259872 (human)0.000008serum metabolite measurement10129517298129517299Human
597111952GWAS1208026_Htea consumption measurement QTL GWAS1208026 (human)0.000001tea consumption measurementdrink intake measurement (CMO:0000771)10129677743129677744Human
597217170GWAS1313244_Hbody height QTL GWAS1313244 (human)2e-08body height (VT:0001253)body height (CMO:0000106)10129628693129628694Human
597197586GWAS1293660_Hglomerular filtration rate QTL GWAS1293660 (human)5e-14glomerular filtration rateglomerular filtration rate (CMO:0000490)10129647467129647468Human
597234837GWAS1330911_Hblood protein measurement QTL GWAS1330911 (human)1e-2306blood protein measurementblood protein measurement (CMO:0000028)10129480146129480147Human
406889934GWAS538910_HModic type vertebral endplate changes QTL GWAS538910 (human)0.000009Modic type vertebral endplate changes10129691263129691264Human
597223945GWAS1320019_Hcreatinine measurement QTL GWAS1320019 (human)5e-10creatinine measurementblood creatinine measurement (CMO:0000767)10129629397129629398Human
597346955GWAS1443029_Hbody fat percentage QTL GWAS1443029 (human)2e-09body fat mass (VT:0010482)body fat percentage (CMO:0000302)10129632422129632423Human
597144719GWAS1240793_Hbody height QTL GWAS1240793 (human)3e-08body height (VT:0001253)body height (CMO:0000106)10129529777129529778Human
597239680GWAS1335754_Hblood protein measurement QTL GWAS1335754 (human)5e-2725blood protein measurementblood protein measurement (CMO:0000028)10129480146129480147Human
597079180GWAS1175254_Hhigh density lipoprotein cholesterol measurement QTL GWAS1175254 (human)0.000004high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)10129758408129758409Human
596953609GWAS1073128_Hbone density QTL GWAS1073128 (human)6e-09bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)10129578954129578955Human
597129015GWAS1225089_Hmental or behavioural disorder, substance abuse QTL GWAS1225089 (human)0.000002mental or behavioural disorder, substance abuse10129726753129726754Human
597313976GWAS1410050_Hbody height QTL GWAS1410050 (human)4e-16body height (VT:0001253)body height (CMO:0000106)10129546149129546150Human
597303352GWAS1399426_Hlevel of methylated-DNA--protein-cysteine methyltransferase in blood serum QTL GWAS1399426 (human)3e-18level of methylated-DNA--protein-cysteine methyltransferase in blood serum10129708019129708020Human
597290685GWAS1386759_Hsize QTL GWAS1386759 (human)5e-11size10129642985129642986Human
597277501GWAS1373575_HAlzheimer disease QTL GWAS1373575 (human)2e-14Alzheimer disease10129677743129677744Human
597190717GWAS1286791_Hanthropometric measurement QTL GWAS1286791 (human)3e-19anthropometric measurementbody morphological measurement (CMO:0000021)10129529342129529343Human
597164209GWAS1260283_Hcarbohydrate measurement QTL GWAS1260283 (human)0.000002carbohydrate measurement10129517298129517299Human
597227827GWAS1323901_Heye colour measurement QTL GWAS1323901 (human)0.0000008eye colour measurementeye morphological measurement (CMO:0003080)10129677743129677744Human
597277493GWAS1373567_HAlzheimer disease QTL GWAS1373567 (human)5e-08Alzheimer disease10129604777129604778Human
406926576GWAS575552_Hheel bone mineral density QTL GWAS575552 (human)9e-23heel bone mineral densitybone mineral density (CMO:0001226)10129481527129481528Human
596968868GWAS1088387_Hbody height QTL GWAS1088387 (human)4e-16body height (VT:0001253)body height (CMO:0000106)10129546149129546150Human
596954023GWAS1073542_Hdementia QTL GWAS1073542 (human)0.000008dementia10129521762129521763Human
596960039GWAS1079558_Hglomerular filtration rate QTL GWAS1079558 (human)2e-17glomerular filtration rateglomerular filtration rate (CMO:0000490)10129647467129647468Human
597294381GWAS1390455_Hglomerular filtration rate QTL GWAS1390455 (human)8e-11glomerular filtration rateglomerular filtration rate (CMO:0000490)10129647467129647468Human
407052404GWAS701380_Hsmoking behaviour measurement, waist-hip ratio QTL GWAS701380 (human)0.0000009smoking behaviour measurement, waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)10129702676129702677Human
597229859GWAS1325933_Hheel bone mineral density QTL GWAS1325933 (human)3e-20heel bone mineral densitybone mineral density (CMO:0001226)10129481527129481528Human
596959145GWAS1078664_Hglomerular filtration rate QTL GWAS1078664 (human)5e-14glomerular filtration rateglomerular filtration rate (CMO:0000490)10129647467129647468Human
597130326GWAS1226400_Hbone density QTL GWAS1226400 (human)1e-300bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)10129663181129663182Human
597130325GWAS1226399_Hbone density QTL GWAS1226399 (human)1e-300bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)10129524841129524842Human
597199710GWAS1295784_Hbone density QTL GWAS1295784 (human)2e-10bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)10129599693129599694Human
597291102GWAS1387176_Hbone density QTL GWAS1387176 (human)6e-09bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)10129578954129578955Human
597223890GWAS1319964_Hcystatin C measurement QTL GWAS1319964 (human)2e-09glomerular filtration rateglomerular filtration rate (CMO:0000490)10129629397129629398Human
597112795GWAS1208869_Hanorexia nervosa QTL GWAS1208869 (human)2e-08anorexia nervosa10129650500129650501Human
597137625GWAS1233699_Hbone density QTL GWAS1233699 (human)1e-35bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)10129647906129647907Human
597403595GWAS1499669_Hgene methylation measurement QTL GWAS1499669 (human)4e-31gene methylation measurement10129467281129467282Human
597307979GWAS1404053_Hbrain measurement QTL GWAS1404053 (human)2e-10brain measurementbrain measurement (CMO:0000911)10129642054129642055Human
597219149GWAS1315223_Handrostenedione measurement QTL GWAS1315223 (human)4e-08androstenedione measurement10129508520129508527Human
407079318GWAS728294_Hatopic eczema, psoriasis QTL GWAS728294 (human)0.0000006atopic eczema, psoriasis10129683009129683010Human
597585734GWAS1642594_Hbody height QTL GWAS1642594 (human)1e-12body height (VT:0001253)body height (CMO:0000106)10129548522129548523Human
597193408GWAS1289482_Hglomerular filtration rate QTL GWAS1289482 (human)2e-12glomerular filtration rateglomerular filtration rate (CMO:0000490)10129647467129647468Human
597297347GWAS1393421_Hbody height QTL GWAS1393421 (human)8e-13body height (VT:0001253)body height (CMO:0000106)10129546149129546150Human
597201985GWAS1298059_Hrestless legs syndrome QTL GWAS1298059 (human)3e-09restless legs syndrome10129632897129632898Human
597308992GWAS1405066_Hcreatinine measurement QTL GWAS1405066 (human)3e-14creatinine measurementblood creatinine measurement (CMO:0000767)10129508520129508527Human
597032265GWAS1128339_Hheel bone mineral density QTL GWAS1128339 (human)8e-21heel bone mineral densitybone mineral density (CMO:0001226)10129481527129481528Human
597352058GWAS1448132_Hbody height QTL GWAS1448132 (human)1e-110body height (VT:0001253)body height (CMO:0000106)10129638297129638298Human
597349369GWAS1445443_Hrestless legs syndrome QTL GWAS1445443 (human)6e-12restless legs syndrome10129632897129632898Human
597230330GWAS1326404_Heye colour measurement QTL GWAS1326404 (human)0.000007eye colour measurementeye morphological measurement (CMO:0003080)10129677743129677744Human
597138046GWAS1234120_Hbone density QTL GWAS1234120 (human)1e-24bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)10129614803129614804Human
597582324GWAS1639184_Hbody height QTL GWAS1639184 (human)1e-11body height (VT:0001253)body height (CMO:0000106)10129548522129548523Human
597041020GWAS1137094_Hbody height QTL GWAS1137094 (human)2e-16body height (VT:0001253)body height (CMO:0000106)10129642165129642166Human
597319280GWAS1415354_Hbody surface area QTL GWAS1415354 (human)2e-10body surface area10129649879129649880Human
597138044GWAS1234118_Hbone density QTL GWAS1234118 (human)1e-24bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)10129620598129620599Human
597352055GWAS1448129_Hbody height QTL GWAS1448129 (human)9e-10body height (VT:0001253)body height (CMO:0000106)10129769285129769286Human
597311860GWAS1407934_Hglomerular filtration rate QTL GWAS1407934 (human)4e-11glomerular filtration rateglomerular filtration rate (CMO:0000490)10129480146129480147Human
597166966GWAS1263040_Hbrain measurement QTL GWAS1263040 (human)6e-10brain measurementbrain measurement (CMO:0000911)10129642054129642055Human
597162214GWAS1258288_Hphenol sulfate measurement QTL GWAS1258288 (human)0.000002phenol sulfate measurement10129613322129613323Human
597317608GWAS1413682_Hglomerular filtration rate QTL GWAS1413682 (human)0.000002glomerular filtration rateglomerular filtration rate (CMO:0000490)10129480146129480147Human
597125093GWAS1221167_HMyopia QTL GWAS1221167 (human)0.00001Myopia10129741419129741420Human
597138404GWAS1234478_Hbone density QTL GWAS1234478 (human)2e-23bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)10129647154129647155Human
597433071GWAS1529145_Hprotein measurement QTL GWAS1529145 (human)5e-104protein measurement10129708019129708020Human
597158627GWAS1254701_Hdementia QTL GWAS1254701 (human)0.000008dementia10129521762129521763Human
597277423GWAS1373497_Hbeverage consumption measurement QTL GWAS1373497 (human)3e-12beverage consumption measurementdrink intake measurement (CMO:0000771)10129529087129529088Human
596959842GWAS1079361_Hglomerular filtration rate QTL GWAS1079361 (human)2e-12glomerular filtration rateglomerular filtration rate (CMO:0000490)10129647467129647468Human
597330412GWAS1426486_Hsleep duration QTL GWAS1426486 (human)0.000009sleep duration10129693181129693182Human
597581801GWAS1638661_Hbody height QTL GWAS1638661 (human)5e-12body height (VT:0001253)body height (CMO:0000106)10129548522129548523Human
597199456GWAS1295530_Hbone density QTL GWAS1295530 (human)2e-10bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)10129598579129598580Human
597229410GWAS1325484_Hblood protein measurement QTL GWAS1325484 (human)4e-2189blood protein measurementblood protein measurement (CMO:0000028)10129480146129480147Human
597199458GWAS1295532_Hbone density QTL GWAS1295532 (human)2e-10bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)10129598567129598568Human
597196259GWAS1292333_Hglomerular filtration rate QTL GWAS1292333 (human)2e-17glomerular filtration rateglomerular filtration rate (CMO:0000490)10129647467129647468Human
407041214GWAS690190_Hresponse to temozolomide QTL GWAS690190 (human)1e-08response to temozolomide10129627758129627759Human
596953707GWAS1073226_Hsize QTL GWAS1073226 (human)5e-11size10129642985129642986Human

Markers in Region
G38294  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371474,692,361 - 74,692,692UniSTSGRCh37
GRCh3710131,298,896 - 131,300,554UniSTSGRCh37
Build 361473,762,114 - 73,762,445RGDNCBI36
Celera10124,970,734 - 124,972,392UniSTS
Celera1454,729,637 - 54,729,968RGD
Cytogenetic Map10q26UniSTS
HuRef1454,859,357 - 54,859,688UniSTS
HuRef10124,876,059 - 124,877,718UniSTS
SHGC-148919  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710131,294,750 - 131,295,021UniSTSGRCh37
Build 3610131,184,740 - 131,185,011RGDNCBI36
Celera10124,966,588 - 124,966,859RGD
Cytogenetic Map10q26UniSTS
HuRef10124,871,913 - 124,872,184UniSTS
G67483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710131,334,455 - 131,334,760UniSTSGRCh37
Build 3610131,224,445 - 131,224,750RGDNCBI36
Celera10125,006,296 - 125,006,601RGD
Cytogenetic Map10q26UniSTS
HuRef10124,913,228 - 124,913,533UniSTS
G67484  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710131,506,116 - 131,506,437UniSTSGRCh37
Build 3610131,396,106 - 131,396,427RGDNCBI36
Celera10125,178,002 - 125,178,323RGD
Cytogenetic Map10q26UniSTS
HuRef10125,084,917 - 125,085,238UniSTS
csnpmgmt-pcr3-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710131,557,372 - 131,557,688UniSTSGRCh37
Build 3610131,447,362 - 131,447,678RGDNCBI36
Celera10125,229,235 - 125,229,551RGD
Cytogenetic Map10q26UniSTS
HuRef10125,136,140 - 125,136,456UniSTS
csnpmgmt-pcr4-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710131,565,005 - 131,565,422UniSTSGRCh37
Build 3610131,454,995 - 131,455,412RGDNCBI36
Celera10125,236,868 - 125,237,285RGD
Cytogenetic Map10q26UniSTS
HuRef10125,143,773 - 125,144,190UniSTS
PMC140684P9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710131,264,645 - 131,264,815UniSTSGRCh37
Build 3610131,154,635 - 131,154,805RGDNCBI36
Celera10124,936,473 - 124,936,643RGD
Cytogenetic Map10q26UniSTS
HuRef10124,841,632 - 124,841,802UniSTS
MGMT_7829  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710131,565,052 - 131,565,568UniSTSGRCh37
Build 3610131,455,042 - 131,455,558RGDNCBI36
Celera10125,236,915 - 125,237,431RGD
HuRef10125,143,820 - 125,144,336UniSTS


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 2430 2788 2250 4931 1721 2314 6 623 1913 463 2253 7262 6436 46 3707 1 852 1738 1582 172 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_052673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005252682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH007347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI520029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC387686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC416206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC249995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC255379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM000795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM000796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX302139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M29971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M31767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK093750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U95038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X54228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000306010   ⟹   ENSP00000302111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10129,467,190 - 129,767,519 (+)Ensembl
Ensembl Acc Id: ENST00000462672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10129,701,627 - 129,717,867 (+)Ensembl
Ensembl Acc Id: ENST00000482547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10129,467,262 - 129,537,164 (+)Ensembl
Ensembl Acc Id: ENST00000482653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10129,467,229 - 129,564,162 (+)Ensembl
Ensembl Acc Id: ENST00000651593   ⟹   ENSP00000498729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10129,467,241 - 129,770,983 (+)Ensembl
RefSeq Acc Id: NM_002412   ⟹   NP_002403
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810129,467,241 - 129,770,983 (+)NCBI
GRCh3710131,265,454 - 131,565,783 (+)ENTREZGENE
Build 3610131,155,456 - 131,455,358 (+)NCBI Archive
HuRef10124,842,441 - 125,144,551 (+)ENTREZGENE
CHM1_110131,547,578 - 131,848,012 (+)NCBI
T2T-CHM13v2.010130,392,352 - 130,697,970 (+)NCBI
Sequence:
RefSeq Acc Id: NP_002403   ⟸   NM_002412
- UniProtKB: P16455 (UniProtKB/Swiss-Prot),   Q5VY78 (UniProtKB/Swiss-Prot),   B4DEE8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000302111   ⟸   ENST00000306010
Ensembl Acc Id: ENSP00000498729   ⟸   ENST00000651593
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P16455-F1-model_v2 AlphaFold P16455 1-207 view protein structure

Promoters
RGD ID:7219005
Promoter ID:EPDNEW_H15248
Type:initiation region
Name:MGMT_1
Description:O-6-methylguanine-DNA methyltransferase
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
GRCh3810129,467,244 - 129,467,304EPDNEW
RGD ID:6787882
Promoter ID:HG_KWN:11659
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000051009,   OTTHUMT00000051010,   OTTHUMT00000051011
Position:
Human AssemblyChrPosition (strand)Source
Build 3610131,155,166 - 131,155,666 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7059 AgrOrtholog
COSMIC MGMT COSMIC
Ensembl Genes ENSG00000170430 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000306010.8 UniProtKB/TrEMBL
  ENST00000651593 ENTREZGENE
  ENST00000651593.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Methylated DNA-protein cysteine methyltransferase domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000170430 GTEx
HGNC ID HGNC:7059 ENTREZGENE
Human Proteome Map MGMT Human Proteome Map
InterPro MethylDNA_cys_MeTrfase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MethylDNA_cys_MeTrfase_DNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MethylDNA_cys_MeTrfase_DNAb UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MethylG_MeTrfase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MGMT_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4255 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4255 ENTREZGENE
OMIM 156569 OMIM
PANTHER METHYLATED-DNA--PROTEIN-CYSTEINE METHYLTRANSFERASE UniProtKB/Swiss-Prot
  METHYLATED-DNA--PROTEIN-CYSTEINE METHYLTRANSFERASE UniProtKB/Swiss-Prot
  METHYLATED-DNA--PROTEIN-CYSTEINE METHYLTRANSFERASE UniProtKB/TrEMBL
  METHYLATED-DNA--PROTEIN-CYSTEINE METHYLTRANSFERASE UniProtKB/TrEMBL
Pfam DNA_binding_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Methyltransf_1N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB MGMT RGD, PharmGKB
PROSITE MGMT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46767 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF53155 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A059PXU1_HUMAN UniProtKB/TrEMBL
  A0A0G2SKE6_HUMAN UniProtKB/TrEMBL
  A0A0G2SKF3_HUMAN UniProtKB/TrEMBL
  B4DEE8 ENTREZGENE, UniProtKB/TrEMBL
  MGMT_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5VY78 ENTREZGENE
UniProt Secondary Q5VY78 UniProtKB/Swiss-Prot