TYMS (thymidylate synthetase) - Rat Genome Database

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Gene: TYMS (thymidylate synthetase) Homo sapiens
Analyze
Symbol: TYMS
Name: thymidylate synthetase
RGD ID: 732334
HGNC Page HGNC:12441
Description: Enables mRNA regulatory element binding translation repressor activity; sequence-specific mRNA binding activity; and thymidylate synthase activity. Involved in several processes, including dTMP biosynthetic process; negative regulation of translation; and tetrahydrofolate interconversion. Located in mitochondrial inner membrane; mitochondrial matrix; and nucleus. Implicated in several diseases, including abdominal aortic aneurysm; cerebral infarction; gastrointestinal system cancer (multiple); hematologic cancer (multiple); and rheumatoid arthritis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKCD; HST422; MGC88736; thymidylate synthase; TMS; TS; TSase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: TYMSP1   TYMSP2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3818657,653 - 673,578 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl18657,653 - 673,578 (+)EnsemblGRCh38hg38GRCh38
GRCh3718657,653 - 673,578 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3618647,651 - 663,492 (+)NCBINCBI36Build 36hg18NCBI36
Build 3418647,650 - 663,492NCBI
Celera18532,413 - 547,810 (+)NCBICelera
Cytogenetic Map18p11.32NCBI
HuRef18617,665 - 633,936 (+)NCBIHuRef
CHM1_118656,968 - 672,692 (+)NCBICHM1_1
T2T-CHM13v2.018811,985 - 827,856 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-gambogic acid  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (ISO)
1-naphthyl isothiocyanate  (ISO)
14-Deoxy-11,12-didehydroandrographolide  (EXP)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3-dimethoxynaphthalene-1,4-dione  (EXP)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
2-nitrofluorene  (ISO)
2-palmitoylglycerol  (EXP)
3,3'-diindolylmethane  (EXP)
3,7-dihydropurine-6-thione  (EXP)
3-chloropropane-1,2-diol  (ISO)
3-methylcholanthrene  (EXP)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5,6,7,8-tetrahydrofolic acid  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP,ISO)
5-formyltetrahydrofolic acid  (EXP,ISO)
5-iodo-2'-deoxyuridine  (ISO)
6-propyl-2-thiouracil  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (ISO)
acetamide  (ISO)
acetylleucyl-leucyl-norleucinal  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
antimony(0)  (EXP)
antimycin A  (EXP)
antirheumatic drug  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
atrazine  (EXP)
azathioprine  (EXP)
azoxystrobin  (EXP)
belinostat  (EXP)
benzatropine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-naphthoflavone  (ISO)
betulinic acid  (EXP)
bicalutamide  (EXP)
Biflorin  (EXP)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
cadmium sulfate  (EXP)
caffeine  (ISO)
calcitriol  (EXP)
camptothecin  (EXP)
capecitabine  (EXP)
carboplatin  (EXP)
cefaloridine  (ISO)
chlorpyrifos  (ISO)
chromium atom  (EXP)
Cinobufagin  (EXP)
cisplatin  (EXP)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cycloheximide  (EXP)
cyclosporin A  (EXP)
cytarabine  (EXP,ISO)
daunorubicin  (EXP)
DDT  (EXP)
dextran sulfate  (ISO)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
DISTAMYCIN A  (EXP)
doxifluridine  (EXP)
doxorubicin  (EXP)
dTMP  (ISO)
dUMP  (ISO)
endosulfan  (ISO)
Enterolactone  (EXP)
enzyme inhibitor  (EXP)
erlotinib hydrochloride  (EXP)
ethyl methanesulfonate  (EXP)
etoposide  (EXP)
fipronil  (ISO)
floxuridine  (EXP)
flurbiprofen  (ISO)
folic acid  (EXP,ISO)
FR900359  (EXP)
furan  (ISO)
gefitinib  (EXP)
genistein  (EXP)
gentamycin  (ISO)
geraniol  (EXP)
glycidyl methacrylate  (EXP)
Heliotrine  (ISO)
ICI D1694  (EXP)
indometacin  (ISO)
irinotecan  (EXP)
ivermectin  (EXP)
ketamine  (ISO)
lamivudine  (EXP)
lead(II) chloride  (EXP)
lidocaine  (ISO)
lipopolysaccharide  (EXP)
malathion  (EXP)
menadione  (EXP)
mercaptopurine  (EXP)
mercury atom  (EXP)
mercury(0)  (EXP)
methapyrilene  (ISO)
methcathinone  (EXP)
methimazole  (ISO)
methotrexate  (EXP,ISO)
methoxyacetic acid  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (ISO)
methylseleninic acid  (EXP)
mitomycin C  (EXP)
Monobutylphthalate  (ISO)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nickel atom  (EXP)
nickel dichloride  (ISO)
oxaliplatin  (EXP,ISO)
ozone  (ISO)
paclitaxel  (EXP)
palbociclib  (EXP)
paracetamol  (EXP,ISO)
pemetrexed  (EXP)
phenobarbital  (EXP,ISO)
phenolphthalein  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
phytoestrogen  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (EXP)
prednisone  (EXP)
progesterone  (EXP)
purine-6-thiol  (EXP)
quercetin  (EXP,ISO)
quinazolines  (EXP)
quizartinib  (EXP)
resveratrol  (EXP)
rotenone  (EXP)
SB 431542  (EXP)
senecionine  (ISO)
Senkirkine  (ISO)
silicon dioxide  (ISO)
simvastatin  (EXP)
sirolimus  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
sunitinib  (EXP)
tanespimycin  (EXP)
Tegafur  (EXP)
temozolomide  (EXP)
Temsirolimus  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
thymidine  (ISO)
titanium dioxide  (EXP,ISO)
toluene 2,4-diisocyanate  (ISO)
TOMUDEX  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
troglitazone  (EXP)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vincristine  (EXP)
vorinostat  (EXP)
wogonin  (EXP)
zidovudine  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA,IEA)
cytosol  (IBA,IEA,TAS)
mitochondrial inner membrane  (IDA,IEA)
mitochondrial matrix  (IDA,IEA)
mitochondrion  (IBA,IDA,IEA)
nucleus  (IDA,IEA,ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal aortic aneurysm  (IAGP)
Abnormal blistering of the skin  (IAGP)
Abnormal eyebrow morphology  (IAGP)
Abnormal eyelash morphology  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal morphology of female internal genitalia  (IAGP)
Abnormal palmar dermatoglyphics  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormality of coagulation  (IAGP)
Abnormality of neutrophils  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the pharynx  (IAGP)
Alopecia  (IAGP)
Anemia  (IAGP)
Anorectal anomaly  (IAGP)
Aplasia/Hypoplasia of the skin  (IAGP)
Aplastic/hypoplastic toenail  (IAGP)
Autism  (IAGP)
Avascular necrosis  (IAGP)
Basal cell carcinoma  (IAGP)
Bilateral ptosis  (IAGP)
Blepharitis  (IAGP)
Bone marrow hypocellularity  (IAGP)
Carious teeth  (IAGP)
Cataract  (IAGP)
Cellular immunodeficiency  (IAGP)
Cerebral calcification  (IAGP)
Cirrhosis  (IAGP)
Coarse metaphyseal trabecularization  (IAGP)
Congenital onset  (IAGP)
Decreased circulating IgA level  (IAGP)
Decreased circulating IgG level  (IAGP)
Decreased circulating total IgM  (IAGP)
Decreased testicular size  (IAGP)
Diabetes mellitus  (IAGP)
Digenic inheritance  (IAGP)
Displacement of the urethral meatus  (IAGP)
Dysphagia  (IAGP)
Epiphora  (IAGP)
Esophageal stenosis  (IAGP)
Failure to thrive  (IAGP)
Gastroesophageal reflux  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hepatic failure  (IAGP)
Hepatomegaly  (IAGP)
Hyperhidrosis  (IAGP)
Hypermelanotic macule  (IAGP)
Hypodontia  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Infantile onset  (IAGP)
Intrauterine growth retardation  (IAGP)
Ischemic stroke  (IAGP)
Juvenile onset  (IAGP)
Lymphoma  (IAGP)
Macule  (IAGP)
Malabsorption  (IAGP)
Melanoma  (IAGP)
Microcephaly  (IAGP)
Nail dystrophy  (IAGP)
Neoplasm  (IAGP)
Neoplasm of the pancreas  (IAGP)
Oral leukoplakia  (IAGP)
Osteoporosis  (IAGP)
Palmoplantar keratoderma  (IAGP)
Periodontitis  (IAGP)
Premature graying of hair  (IAGP)
Recurrent fractures  (IAGP)
Recurrent infections  (IAGP)
Recurrent respiratory infections  (IAGP)
Scoliosis  (IAGP)
Short stature  (IAGP)
Short telomere length  (IAGP)
Skin ulcer  (IAGP)
Skin vesicle  (IAGP)
Sparse eyelashes  (IAGP)
Sparse hair  (IAGP)
Splenomegaly  (IAGP)
Squamous cell carcinoma of the skin  (IAGP)
Taurodontia  (IAGP)
Telangiectasia of the skin  (IAGP)
Thrombocytopenia  (IAGP)
Tracheoesophageal fistula  (IAGP)
Urethral stenosis  (IAGP)
White hair  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. In vitro and in vivo reversal of resistance to 5-fluorouracil in colorectal cancer cells with a novel stealth double-liposomal formulation. Fanciullino R, etal., Br J Cancer. 2007 Oct 8;97(7):919-26. Epub 2007 Sep 11.
2. Genetic analysis of 56 polymorphisms in 17 genes involved in methionine metabolism in patients with abdominal aortic aneurysm. Giusti B, etal., J Med Genet. 2008 Nov;45(11):721-30. doi: 10.1136/jmg.2008.057851. Epub 2008 Jul 17.
3. Early-onset ischaemic stroke: analysis of 58 polymorphisms in 17 genes involved in methionine metabolism. Giusti B, etal., Thromb Haemost. 2010 Aug;104(2):231-42. doi: 10.1160/TH09-11-0748. Epub 2010 May 10.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Association of the TYMS 3G/3G genotype with poor response and GGH 354GG genotype with the bone marrow toxicity of the methotrexate in RA patients. Jekic B, etal., Eur J Clin Pharmacol. 2013 Mar;69(3):377-83. doi: 10.1007/s00228-012-1341-3. Epub 2012 Jul 5.
6. Germline TYMS genotype is highly predictive in patients with metastatic gastrointestinal malignancies receiving capecitabine-based chemotherapy. Joerger M, etal., Cancer Chemother Pharmacol. 2015 Apr;75(4):763-72. doi: 10.1007/s00280-015-2698-7. Epub 2015 Feb 13.
7. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
8. Association between polymorphisms of folate-metabolizing enzymes and hematological malignancies. Kim HN, etal., Leuk Res. 2009 Jan;33(1):82-7. doi: 10.1016/j.leukres.2008.07.026. Epub 2008 Sep 6.
9. Polymorphisms of methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), methionine synthase reductase (MTRR), and thymidylate synthase (TYMS) in multiple myeloma risk. Lima CS, etal., Leuk Res. 2008 Mar;32(3):401-5. Epub 2007 Jul 25.
10. Response to chemotherapy and tandem autologous transplantation of multiple myeloma patients and GSTP1 and TYMS polymorphisms. Maggini V, etal., Leuk Res. 2008 Jan;32(1):49-53. Epub 2007 May 23.
11. Splenomegaly induced by recombinant human granulocyte-colony stimulating factor in rats. Nakayama T, etal., Life Sci. 2001 Aug 17;69(13):1521-9.
12. Identification of new SNPs associated with severe toxicity to capecitabine. Pellicer M, etal., Pharmacol Res. 2017 Jun;120:133-137. doi: 10.1016/j.phrs.2017.03.021. Epub 2017 Mar 27.
13. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
14. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
15. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
16. Additive effects of medroxyprogesterone acetate and 5-fluorouracil derivative on 7,12-dimethylbenzanthracene-induced rat mammary tumors. Sakamoto S, etal., Anticancer Drugs. 1998 Apr;9(4):351-7.
17. Effects of 5-fluorouracil derivative UFT on thymidylate synthetase and thymidine kinase in rat colorectal tumors. Sakamoto S, etal., Anticancer Res. 1999 Jan-Feb;19(1A):245-50.
18. Correlation between histological differentiation and DNA-synthesizing enzymes in rat colorectal tumors induced with 1, 2-dimethylhydrazine. Sakamoto S, etal., Oncol Rep. 1999 Nov-Dec;6(6):1321-5.
19. Crystal structures of rat thymidylate synthase inhibited by Tomudex, a potent anticancer drug. Sotelo-Mundo RR, etal., Biochemistry 1999 Jan 19;38(3):1087-94.
20. Trafficking of intracellular folates. Stover PJ and Field MS, Adv Nutr. 2011 Jul;2(4):325-31. doi: 10.3945/¿an.111.000596. Epub 2011 Jun 28.
21. 5-Fluorouracil incorporated into the tissue RNA of human and rat bladder carcinoma after administration of 1-(2-tetrahydrofuryl)-5-fluorouracil combined with uracil. Tsujimoto S, etal., Int J Clin Oncol. 2008 Apr;13(2):138-43. Epub 2008 May 8.
22. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
23. Genetic polymorphisms in the methylenetetrahydrofolate reductase and thymidylate synthase genes and risk of hepatocellular carcinoma. Yuan JM, etal., Hepatology. 2007 Sep;46(3):749-58. doi: 10.1002/hep.21735.
24. Genetic polymorphisms in candidate genes predict increased toxicity with methotrexate therapy in Lebanese children with acute lymphoblastic leukemia. Zgheib NK, etal., Pharmacogenet Genomics. 2014 Aug;24(8):387-96. doi: 10.1097/FPC.0000000000000069.
Additional References at PubMed
PMID:1720706   PMID:1924359   PMID:2243092   PMID:2532645   PMID:2656695   PMID:2987839   PMID:3839505   PMID:8125298   PMID:8449516   PMID:8845352   PMID:9148948   PMID:11102983  
PMID:11251009   PMID:11251164   PMID:11278511   PMID:11316879   PMID:11329255   PMID:11445856   PMID:11697906   PMID:11747337   PMID:11799066   PMID:11804689   PMID:11937185   PMID:11989786  
PMID:11992400   PMID:12018454   PMID:12067974   PMID:12084458   PMID:12084459   PMID:12084460   PMID:12084461   PMID:12084462   PMID:12147691   PMID:12215845   PMID:12220503   PMID:12239455  
PMID:12466474   PMID:12477932   PMID:12530000   PMID:12576451   PMID:12576452   PMID:12604405   PMID:12640689   PMID:12684695   PMID:12706868   PMID:12782596   PMID:12845668   PMID:12859954  
PMID:12907731   PMID:12972956   PMID:14519634   PMID:14519641   PMID:14576935   PMID:14578129   PMID:14586640   PMID:14656021   PMID:14702180   PMID:14745930   PMID:14760062   PMID:14967037  
PMID:14970324   PMID:14977639   PMID:15093541   PMID:15115918   PMID:15161716   PMID:15198953   PMID:15213713   PMID:15231747   PMID:15244514   PMID:15251465   PMID:15259039   PMID:15260847  
PMID:15284183   PMID:15316940   PMID:15355920   PMID:15386366   PMID:15386371   PMID:15457444   PMID:15459215   PMID:15489334   PMID:15504738   PMID:15510613   PMID:15571262   PMID:15571263  
PMID:15571283   PMID:15579479   PMID:15585623   PMID:15598787   PMID:15677700   PMID:15682292   PMID:15713801   PMID:15735113   PMID:15736425   PMID:15788669   PMID:15797993   PMID:15817609  
PMID:15897576   PMID:15930032   PMID:15952572   PMID:15953655   PMID:15985285   PMID:15993511   PMID:15999119   PMID:16030402   PMID:16045580   PMID:16051637   PMID:16077970   PMID:16079077  
PMID:16130010   PMID:16132996   PMID:16141798   PMID:16162288   PMID:16182121   PMID:16188144   PMID:16219137   PMID:16234002   PMID:16242255   PMID:16259621   PMID:16284371   PMID:16317430  
PMID:16328059   PMID:16328315   PMID:16333305   PMID:16334126   PMID:16365025   PMID:16424979   PMID:16447238   PMID:16456808   PMID:16467096   PMID:16575011   PMID:16580699   PMID:16596248  
PMID:16609021   PMID:16617381   PMID:16622263   PMID:16675565   PMID:16722845   PMID:16723031   PMID:16773218   PMID:16920564   PMID:16929515   PMID:17000685   PMID:17018589   PMID:17065089  
PMID:17181924   PMID:17187508   PMID:17201138   PMID:17203168   PMID:17220568   PMID:17273745   PMID:17290389   PMID:17311259   PMID:17317154   PMID:17367411   PMID:17369151   PMID:17372271  
PMID:17377791   PMID:17385677   PMID:17395259   PMID:17410198   PMID:17417073   PMID:17439323   PMID:17449906   PMID:17454638   PMID:17546637   PMID:17549369   PMID:17551301   PMID:17581305  
PMID:17596206   PMID:17661145   PMID:17684410   PMID:17684476   PMID:17688376   PMID:17716232   PMID:17854149   PMID:17891500   PMID:17971770   PMID:18095031   PMID:18098291   PMID:18174236  
PMID:18177869   PMID:18192902   PMID:18203297   PMID:18221821   PMID:18245544   PMID:18267032   PMID:18274813   PMID:18281538   PMID:18285546   PMID:18299612   PMID:18322994   PMID:18336674  
PMID:18365142   PMID:18370400   PMID:18381794   PMID:18406541   PMID:18427977   PMID:18430179   PMID:18448328   PMID:18458991   PMID:18498133   PMID:18505590   PMID:18510611   PMID:18540691  
PMID:18584349   PMID:18589584   PMID:18593893   PMID:18597678   PMID:18600534   PMID:18607581   PMID:18629514   PMID:18636124   PMID:18642643   PMID:18669903   PMID:18676680   PMID:18676755  
PMID:18677108   PMID:18704422   PMID:18722050   PMID:18728661   PMID:18785313   PMID:18830263   PMID:18855534   PMID:18976010   PMID:18983896   PMID:18985814   PMID:18988749   PMID:18989779  
PMID:18990369   PMID:18992148   PMID:19020309   PMID:19020759   PMID:19020767   PMID:19048631   PMID:19064578   PMID:19074750   PMID:19082493   PMID:19147506   PMID:19154585   PMID:19159907  
PMID:19161160   PMID:19162321   PMID:19170196   PMID:19190136   PMID:19295264   PMID:19306093   PMID:19307503   PMID:19332728   PMID:19339270   PMID:19339911   PMID:19374805   PMID:19384296  
PMID:19426394   PMID:19427504   PMID:19444465   PMID:19460136   PMID:19493349   PMID:19513514   PMID:19546880   PMID:19568409   PMID:19571608   PMID:19619240   PMID:19621386   PMID:19625176  
PMID:19632929   PMID:19636001   PMID:19651439   PMID:19672780   PMID:19692168   PMID:19722231   PMID:19724871   PMID:19738201   PMID:19748501   PMID:19750576   PMID:19751277   PMID:19774638  
PMID:19822515   PMID:19837268   PMID:19850635   PMID:19858398   PMID:19858780   PMID:19885596   PMID:19888426   PMID:19898266   PMID:19913121   PMID:19917450   PMID:19956635   PMID:19998340  
PMID:20012317   PMID:20047592   PMID:20061047   PMID:20101025   PMID:20112501   PMID:20122156   PMID:20151707   PMID:20165956   PMID:20177420   PMID:20180013   PMID:20216541   PMID:20235210  
PMID:20237949   PMID:20306339   PMID:20310006   PMID:20331623   PMID:20368715   PMID:20371218   PMID:20372850   PMID:20372856   PMID:20381446   PMID:20385995   PMID:20387074   PMID:20447923  
PMID:20453000   PMID:20501373   PMID:20504250   PMID:20515563   PMID:20530282   PMID:20531375   PMID:20544798   PMID:20565774   PMID:20570913   PMID:20571234   PMID:20580582   PMID:20615890  
PMID:20628086   PMID:20628382   PMID:20628391   PMID:20634891   PMID:20638924   PMID:20647221   PMID:20647341   PMID:20651387   PMID:20665215   PMID:20670920   PMID:20714149   PMID:20714877  
PMID:20734048   PMID:20737570   PMID:20815815   PMID:20819423   PMID:20824655   PMID:20837458   PMID:20932673   PMID:20944490   PMID:20962453   PMID:20966539   PMID:20970877   PMID:21036767  
PMID:21043562   PMID:21048041   PMID:21057378   PMID:21064161   PMID:21111509   PMID:21131780   PMID:21167658   PMID:21188629   PMID:21206062   PMID:21245530   PMID:21254360   PMID:21262916  
PMID:21269855   PMID:21282454   PMID:21321092   PMID:21347782   PMID:21362378   PMID:21460376   PMID:21463130   PMID:21471424   PMID:21550658   PMID:21570215   PMID:21603981   PMID:21605004  
PMID:21618517   PMID:21643952   PMID:21716147   PMID:21730794   PMID:21788964   PMID:21811101   PMID:21824439   PMID:21848426   PMID:21873635   PMID:21876188   PMID:21900206   PMID:21919605  
PMID:21947036   PMID:21948461   PMID:21956592   PMID:21965773   PMID:22006578   PMID:22074251   PMID:22110208   PMID:22143355   PMID:22166040   PMID:22172489   PMID:22233820   PMID:22270332  
PMID:22307944   PMID:22384047   PMID:22388795   PMID:22397721   PMID:22407825   PMID:22486600   PMID:22496803   PMID:22502681   PMID:22551903   PMID:22576918   PMID:22580655   PMID:22593457  
PMID:22623428   PMID:22641663   PMID:22713864   PMID:22819905   PMID:22825513   PMID:22863883   PMID:22866924   PMID:22882943   PMID:22887475   PMID:22895141   PMID:22901148   PMID:22938428  
PMID:22939629   PMID:23098521   PMID:23148637   PMID:23217244   PMID:23249808   PMID:23263912   PMID:23336575   PMID:23350714   PMID:23468971   PMID:23509992   PMID:23523421   PMID:23645741  
PMID:23652803   PMID:23675481   PMID:23710599   PMID:23722170   PMID:23726796   PMID:23736036   PMID:23803067   PMID:23810585   PMID:23826176   PMID:23838799   PMID:23903781   PMID:23915286  
PMID:23930679   PMID:23968134   PMID:24040222   PMID:24067998   PMID:24100087   PMID:24123038   PMID:24166930   PMID:24277474   PMID:24347111   PMID:24415354   PMID:24455740   PMID:24457236  
PMID:24535845   PMID:24554028   PMID:24583629   PMID:24590654   PMID:24641398   PMID:24647007   PMID:24685603   PMID:24756984   PMID:24800948   PMID:25028118   PMID:25060566   PMID:25112781  
PMID:25185651   PMID:25246386   PMID:25279663   PMID:25341694   PMID:25366766   PMID:25423174   PMID:25482885   PMID:25544563   PMID:25599563   PMID:25616285   PMID:25687398   PMID:25721610  
PMID:25877757   PMID:25955097   PMID:26083491   PMID:26108995   PMID:26142736   PMID:26186194   PMID:26189437   PMID:26220094   PMID:26242737   PMID:26344197   PMID:26416450   PMID:26438060  
PMID:26496610   PMID:26502926   PMID:26638075   PMID:26663950   PMID:26740498   PMID:26745074   PMID:26787540   PMID:26847426   PMID:27009482   PMID:27025967   PMID:27064343   PMID:27068564  
PMID:27187663   PMID:27191954   PMID:27240805   PMID:27557140   PMID:27560137   PMID:27666600   PMID:27821793   PMID:27838412   PMID:28011897   PMID:28027897   PMID:28043790   PMID:28056823  
PMID:28074308   PMID:28187000   PMID:28207544   PMID:28319113   PMID:28337746   PMID:28432084   PMID:28476815   PMID:28514442   PMID:28580921   PMID:28627444   PMID:28634233   PMID:28646637  
PMID:28675297   PMID:28835573   PMID:28895418   PMID:28945836   PMID:28972045   PMID:29162511   PMID:29187479   PMID:29200955   PMID:29205204   PMID:29318904   PMID:29331423   PMID:29373881  
PMID:29380036   PMID:29394274   PMID:29395067   PMID:29500934   PMID:29534533   PMID:29715278   PMID:29735940   PMID:29895834   PMID:29906295   PMID:30134598   PMID:30142195   PMID:30180988  
PMID:30194290   PMID:30222710   PMID:30463901   PMID:30684021   PMID:30728402   PMID:30737477   PMID:30803213   PMID:31209768   PMID:31234664   PMID:31247977   PMID:31291332   PMID:31478661  
PMID:31500803   PMID:31648989   PMID:31786878   PMID:31832811   PMID:31838077   PMID:31861032   PMID:32024416   PMID:32101052   PMID:32295543   PMID:32344865   PMID:32614325   PMID:32627015  
PMID:33024270   PMID:33170323   PMID:33285053   PMID:33369477   PMID:33608662   PMID:33805673   PMID:33806077   PMID:33961781   PMID:34048185   PMID:34100299   PMID:34146963   PMID:34297238  
PMID:34651293   PMID:34818974   PMID:35063084   PMID:35256949   PMID:35337019   PMID:35439318   PMID:35559673   PMID:35831314   PMID:35880438   PMID:35906200   PMID:35931051   PMID:36137946  
PMID:36168628   PMID:36172660   PMID:36215168   PMID:36369321   PMID:36575184   PMID:36789646   PMID:37106126   PMID:37536630   PMID:37628769   PMID:37689310   PMID:37827155  


Genomics

Comparative Map Data
TYMS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3818657,653 - 673,578 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl18657,653 - 673,578 (+)EnsemblGRCh38hg38GRCh38
GRCh3718657,653 - 673,578 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3618647,651 - 663,492 (+)NCBINCBI36Build 36hg18NCBI36
Build 3418647,650 - 663,492NCBI
Celera18532,413 - 547,810 (+)NCBICelera
Cytogenetic Map18p11.32NCBI
HuRef18617,665 - 633,936 (+)NCBIHuRef
CHM1_118656,968 - 672,692 (+)NCBICHM1_1
T2T-CHM13v2.018811,985 - 827,856 (+)NCBIT2T-CHM13v2.0
Tyms
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39530,243,544 - 30,279,261 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl530,263,200 - 30,278,615 (-)EnsemblGRCm39 Ensembl
GRCm38530,038,546 - 30,073,645 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl530,058,202 - 30,073,617 (-)EnsemblGRCm38mm10GRCm38
MGSCv37530,384,740 - 30,400,165 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36530,389,614 - 30,404,368 (-)NCBIMGSCv36mm8
Celera527,575,630 - 27,591,037 (-)NCBICelera
Cytogenetic Map5B1NCBI
cM Map515.81NCBI
Tyms
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr89120,760,057 - 120,776,149 (-)NCBIGRCr8
mRatBN7.29113,313,454 - 113,329,551 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl9113,313,452 - 113,329,536 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx9121,800,847 - 121,813,531 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.09126,929,987 - 126,942,671 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.09125,275,890 - 125,288,575 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.09121,918,875 - 121,931,564 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl9121,918,947 - 121,931,564 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.09121,368,418 - 121,381,493 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.49112,604,912 - 112,617,706 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.19112,814,399 - 112,827,186 (-)NCBI
Celera9110,420,900 - 110,433,600 (-)NCBICelera
RH 3.4 Map9866.0RGD
Cytogenetic Map9q38NCBI
Tyms
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554029,296,321 - 9,306,631 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554029,295,862 - 9,304,952 (-)NCBIChiLan1.0ChiLan1.0
TYMS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21737,829,504 - 37,845,090 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11823,522,096 - 23,537,682 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01813,653,085 - 13,668,478 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11817,295,182 - 17,310,311 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1817,295,182 - 17,310,320 (-)Ensemblpanpan1.1panPan2
TYMS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1767,487,927 - 67,497,747 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl767,487,927 - 67,497,747 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha766,941,464 - 66,951,243 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0767,553,912 - 67,563,695 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl767,553,912 - 67,563,695 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1767,230,668 - 67,240,435 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0767,242,107 - 67,251,886 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0767,544,017 - 67,553,794 (+)NCBIUU_Cfam_GSD_1.0
Tyms
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494463,774,083 - 63,783,067 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493655034,048 - 41,840 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493655033,797 - 42,233 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TYMS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6105,642,381 - 105,660,578 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16105,642,730 - 105,660,279 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TYMS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11860,030,640 - 60,043,297 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1860,030,658 - 60,041,856 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605034,821,625 - 34,834,281 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tyms
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477011,138,652 - 11,149,600 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477011,138,673 - 11,149,600 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TYMS
23 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1 copy number loss See cases [RCV000051027] Chr18:148963..13715860 [GRCh38]
Chr18:148963..13715859 [GRCh37]
Chr18:138963..13705859 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051153]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051153]|See cases [RCV000051153] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1 copy number loss See cases [RCV000051154] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:180230-4199943)x3 copy number gain See cases [RCV000052533] Chr18:180230..4199943 [GRCh38]
Chr18:180230..4199943 [GRCh37]
Chr18:170230..4189943 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3 copy number gain See cases [RCV000052499] Chr18:10001..15380684 [GRCh38]
Chr18:10001..15380683 [GRCh37]
Chr18:1..15370683 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3 copy number gain See cases [RCV000052504] Chr18:53345..20948503 [GRCh38]
Chr18:53345..18528464 [GRCh37]
Chr18:43345..16782462 [NCBI36]
Chr18:18p11.32-q11.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3 copy number gain See cases [RCV000052513] Chr18:148963..21040153 [GRCh38]
Chr18:148963..18620114 [GRCh37]
Chr18:138963..16874112 [NCBI36]
Chr18:18p11.32-q11.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1 copy number loss See cases [RCV000053461] Chr18:131700..14226905 [GRCh38]
Chr18:131700..14226904 [GRCh37]
Chr18:121700..14216904 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:53344-7029134)x1 copy number loss See cases [RCV000053455] Chr18:53344..7029134 [GRCh38]
Chr18:53344..7029133 [GRCh37]
Chr18:43344..7019133 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
GRCh38/hg38 18p11.32-11.22(chr18:112259-9135777)x1 copy number loss See cases [RCV000053456] Chr18:112259..9135777 [GRCh38]
Chr18:112259..9135775 [GRCh37]
Chr18:102259..9125775 [NCBI36]
Chr18:18p11.32-11.22		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1 copy number loss See cases [RCV000053457] Chr18:112259..14122522 [GRCh38]
Chr18:112259..14122521 [GRCh37]
Chr18:102259..14112521 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1 copy number loss See cases [RCV000053458] Chr18:131700..15121055 [GRCh38]
Chr18:131700..15121054 [GRCh37]
Chr18:121700..15111054 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:131700-3279166)x1 copy number loss See cases [RCV000053460] Chr18:131700..3279166 [GRCh38]
Chr18:131700..3279164 [GRCh37]
Chr18:121700..3269164 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
GRCh38/hg38 18p11.32-11.22(chr18:131700-10536767)x1 copy number loss See cases [RCV000053781] Chr18:131700..10536767 [GRCh38]
Chr18:131700..10536764 [GRCh37]
Chr18:121700..10526764 [NCBI36]
Chr18:18p11.32-11.22		 pathogenic
GRCh38/hg38 18p11.32(chr18:148763-1108996)x1 copy number loss See cases [RCV000053782] Chr18:148763..1108996 [GRCh38]
Chr18:148763..1108997 [GRCh37]
Chr18:138763..1098997 [NCBI36]
Chr18:18p11.32		 pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:148763-3345033)x1 copy number loss See cases [RCV000053783] Chr18:148763..3345033 [GRCh38]
Chr18:148763..3345031 [GRCh37]
Chr18:138763..3335031 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1 copy number loss See cases [RCV000053784] Chr18:148963..13530126 [GRCh38]
Chr18:148963..13530125 [GRCh37]
Chr18:138963..13520125 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:148963-6731495)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053785]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053785]|See cases [RCV000053785] Chr18:148963..6731495 [GRCh38]
Chr18:148963..6731494 [GRCh37]
Chr18:138963..6721494 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
GRCh38/hg38 18p11.32-11.22(chr18:148963-8572827)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053786]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053786]|See cases [RCV000053786] Chr18:148963..8572827 [GRCh38]
Chr18:148963..8572825 [GRCh37]
Chr18:138963..8562825 [NCBI36]
Chr18:18p11.32-11.22		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1 copy number loss See cases [RCV000053787] Chr18:148963..13068104 [GRCh38]
Chr18:148963..13068103 [GRCh37]
Chr18:138963..13058103 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x3 copy number gain See cases [RCV000051153] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32(chr18:605175-1371075)x3 copy number gain See cases [RCV000134736] Chr18:605175..1371075 [GRCh38]
Chr18:605175..1371076 [GRCh37]
Chr18:595175..1361076 [NCBI36]
Chr18:18p11.32		 uncertain significance
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:148963-6086668)x1 copy number loss See cases [RCV000135846] Chr18:148963..6086668 [GRCh38]
Chr18:148963..6086667 [GRCh37]
Chr18:138963..6076667 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4 copy number gain See cases [RCV000135515] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32(chr18:148963-2221286)x3 copy number gain See cases [RCV000135538] Chr18:148963..2221286 [GRCh38]
Chr18:148963..2221286 [GRCh37]
Chr18:138963..2211286 [NCBI36]
Chr18:18p11.32		 pathogenic
GRCh38/hg38 18p11.32(chr18:605210-2425566)x3 copy number gain See cases [RCV000135542] Chr18:605210..2425566 [GRCh38]
Chr18:605210..2425565 [GRCh37]
Chr18:595210..2415565 [NCBI36]
Chr18:18p11.32		 uncertain significance
GRCh38/hg38 18p11.32(chr18:148963-2313458)x1 copy number loss See cases [RCV000136589] Chr18:148963..2313458 [GRCh38]
Chr18:148963..2313457 [GRCh37]
Chr18:138963..2303457 [NCBI36]
Chr18:18p11.32		 pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:131500-4421014)x3 copy number gain See cases [RCV000135894] Chr18:131500..4421014 [GRCh38]
Chr18:131500..4421014 [GRCh37]
Chr18:121500..4411014 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
GRCh38/hg38 18p11.32(chr18:148963-1949961)x1 copy number loss See cases [RCV000137111] Chr18:148963..1949961 [GRCh38]
Chr18:148963..1949962 [GRCh37]
Chr18:138963..1939962 [NCBI36]
Chr18:18p11.32		 pathogenic
GRCh38/hg38 18p11.32(chr18:374344-699626)x3 copy number gain See cases [RCV000136855] Chr18:374344..699626 [GRCh38]
Chr18:374344..699626 [GRCh37]
Chr18:364344..689626 [NCBI36]
Chr18:18p11.32		 benign
GRCh38/hg38 18p11.32-11.22(chr18:180229-10762632)x1 copy number loss See cases [RCV000136860] Chr18:180229..10762632 [GRCh38]
Chr18:180229..10762630 [GRCh37]
Chr18:170229..10752630 [NCBI36]
Chr18:18p11.32-11.22		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1 copy number loss See cases [RCV000137105] Chr18:148963..10900517 [GRCh38]
Chr18:148963..10900515 [GRCh37]
Chr18:138963..10890515 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32(chr18:148963-2563898)x1 copy number loss See cases [RCV000136645] Chr18:148963..2563898 [GRCh38]
Chr18:148963..2563897 [GRCh37]
Chr18:138963..2553897 [NCBI36]
Chr18:18p11.32		 uncertain significance
GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4 copy number gain See cases [RCV000137456] Chr18:118760..14089410 [GRCh38]
Chr18:118760..14089409 [GRCh37]
Chr18:108760..14079409 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1 copy number loss See cases [RCV000137457] Chr18:118760..14089410 [GRCh38]
Chr18:118760..14089409 [GRCh37]
Chr18:108760..14079409 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32(chr18:605210-1802497)x3 copy number gain See cases [RCV000137234] Chr18:605210..1802497 [GRCh38]
Chr18:605210..1802498 [GRCh37]
Chr18:595210..1792498 [NCBI36]
Chr18:18p11.32		 uncertain significance
GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1 copy number loss See cases [RCV000138101] Chr18:133157..14089410 [GRCh38]
Chr18:133157..14089409 [GRCh37]
Chr18:123157..14079409 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:118760-4342182)x1 copy number loss See cases [RCV000137727] Chr18:118760..4342182 [GRCh38]
Chr18:118760..4342182 [GRCh37]
Chr18:108760..4332182 [NCBI36]
Chr18:18p11.32-11.31		 likely pathogenic
GRCh38/hg38 18p11.32(chr18:149089-1754473)x1 copy number loss See cases [RCV000138838] Chr18:149089..1754473 [GRCh38]
Chr18:149089..1754474 [GRCh37]
Chr18:139089..1744474 [NCBI36]
Chr18:18p11.32		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-11.31(chr18:118760-6275718)x1 copy number loss See cases [RCV000139424] Chr18:118760..6275718 [GRCh38]
Chr18:118760..6275717 [GRCh37]
Chr18:108760..6265717 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.22(chr18:118760-8999132)x1 copy number loss See cases [RCV000139022] Chr18:118760..8999132 [GRCh38]
Chr18:118760..8999130 [GRCh37]
Chr18:108760..8989130 [NCBI36]
Chr18:18p11.32-11.22		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006) copy number gain See cases [RCV000140442] Chr18:136226..15175006 [GRCh38]
Chr18:136226..15175005 [GRCh37]
Chr18:126226..15165005 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:149089-5276567)x1 copy number loss See cases [RCV000139503] Chr18:149089..5276567 [GRCh38]
Chr18:149089..5276566 [GRCh37]
Chr18:139089..5266566 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3 copy number gain See cases [RCV000141427] Chr18:14316..14206225 [GRCh38]
Chr18:14316..14206224 [GRCh37]
Chr18:4316..14196224 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:85432-7094700)x1 copy number loss See cases [RCV000141428] Chr18:85432..7094700 [GRCh38]
Chr18:85432..7094699 [GRCh37]
Chr18:75432..7084699 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:136226-2994136)x1 copy number loss See cases [RCV000140922] Chr18:136226..2994136 [GRCh38]
Chr18:136226..2994134 [GRCh37]
Chr18:126226..2984134 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:118760-4470508)x1 copy number loss See cases [RCV000140659] Chr18:118760..4470508 [GRCh38]
Chr18:118760..4470508 [GRCh37]
Chr18:108760..4460508 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1 copy number loss See cases [RCV000141086] Chr18:118760..15024003 [GRCh38]
Chr18:118760..15024002 [GRCh37]
Chr18:108760..15014002 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1 copy number loss See cases [RCV000141627] Chr18:48782..14978076 [GRCh38]
Chr18:48782..14978075 [GRCh37]
Chr18:38782..14968075 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32(chr18:148963-1413685)x1 copy number loss See cases [RCV000142370] Chr18:148963..1413685 [GRCh38]
Chr18:148963..1413686 [GRCh37]
Chr18:138963..1403686 [NCBI36]
Chr18:18p11.32		 uncertain significance
GRCh38/hg38 18p11.32(chr18:136226-948277)x1 copy number loss See cases [RCV000142224] Chr18:136226..948277 [GRCh38]
Chr18:136226..948278 [GRCh37]
Chr18:126226..938278 [NCBI36]
Chr18:18p11.32		 uncertain significance
GRCh38/hg38 18p11.32-11.31(chr18:136226-4002983)x1 copy number loss See cases [RCV000142175] Chr18:136226..4002983 [GRCh38]
Chr18:136226..4002983 [GRCh37]
Chr18:126226..3992983 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
GRCh38/hg38 18p11.32-11.31(chr18:149089-5458472)x3 copy number gain See cases [RCV000143058] Chr18:149089..5458472 [GRCh38]
Chr18:149089..5458471 [GRCh37]
Chr18:139089..5448471 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
GRCh38/hg38 18p11.32(chr18:225061-776965)x3 copy number gain See cases [RCV000142726] Chr18:225061..776965 [GRCh38]
Chr18:225061..776966 [GRCh37]
Chr18:215061..766966 [NCBI36]
Chr18:18p11.32		 uncertain significance
GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4 copy number gain See cases [RCV000143434] Chr18:136226..15198991 [GRCh38]
Chr18:136226..15198990 [GRCh37]
Chr18:126226..15188990 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3 copy number gain See cases [RCV000143194] Chr18:118760..12642431 [GRCh38]
Chr18:118760..12642430 [GRCh37]
Chr18:108760..12632430 [NCBI36]
Chr18:18p11.32-11.21		 uncertain significance
GRCh38/hg38 18p11.32(chr18:287678-901105)x3 copy number gain See cases [RCV000143328] Chr18:287678..901105 [GRCh38]
Chr18:287678..901106 [GRCh37]
Chr18:277678..891106 [NCBI36]
Chr18:18p11.32		 uncertain significance
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32(chr18:367724-759986)x1 copy number loss See cases [RCV000143471] Chr18:367724..759986 [GRCh38]
Chr18:367724..759986 [GRCh37]
Chr18:357724..749986 [NCBI36]
Chr18:18p11.32		 uncertain significance
GRCh38/hg38 18p11.32-11.31(chr18:136226-4802275)x1 copy number loss See cases [RCV000143661] Chr18:136226..4802275 [GRCh38]
Chr18:136226..4802274 [GRCh37]
Chr18:126226..4792274 [NCBI36]
Chr18:18p11.32-11.31		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3 copy number gain See cases [RCV000143477] Chr18:136226..14337134 [GRCh38]
Chr18:136226..14337133 [GRCh37]
Chr18:126226..14327133 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1 copy number loss See cases [RCV000148129] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32(chr18:354264-1851122)x3 copy number gain See cases [RCV000258791] Chr18:354264..1851122 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4 copy number gain See cases [RCV000449034] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:163323-14103971)x1 copy number loss See cases [RCV000239938] Chr18:163323..14103971 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32(chr18:136226-2737002)x1 copy number loss See cases [RCV000511331] Chr18:136226..2737002 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:163323-15102598)x4 copy number gain See cases [RCV000240029] Chr18:163323..15102598 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:14316-15328499)x1 copy number loss See cases [RCV000240281] Chr18:14316..15328499 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:416490-8638370)x3 copy number gain See cases [RCV000240439] Chr18:416490..8638370 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:14316-10784606)x1 copy number loss See cases [RCV000240555] Chr18:14316..10784606 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:13034-15375878)x1 copy number loss See cases [RCV000599143] Chr18:13034..15375878 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:136226-3297143)x1 copy number loss See cases [RCV000449083] Chr18:136226..3297143 [GRCh37]
Chr18:18p11.32-11.31		 pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:136226-3547887)x3 copy number gain See cases [RCV000446088] Chr18:136226..3547887 [GRCh37]
Chr18:18p11.32-11.31		 pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:136226-9789368)x3 copy number gain See cases [RCV000446104] Chr18:136226..9789368 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NC_000018.10:g.657646_657673CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9] microsatellite Gastrointestinal stromal tumor [RCV000144919] Chr18:657646..657673 [GRCh38]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4 copy number gain See cases [RCV000445796] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938)x1 copy number loss See cases [RCV000449008] Chr18:136226..14983938 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_001071.4(TYMS):c.*450_*455del deletion capecitabine response - Efficacy [RCV000417173]|fluorouracil response - Efficacy [RCV000417139] Chr18:673444..673449 [GRCh38]
Chr18:673444..673449 [GRCh37]
Chr18:18p11.32		 drug response
GRCh37/hg19 18p11.32(chr18:387895-760697)x3 copy number gain See cases [RCV000448920] Chr18:387895..760697 [GRCh37]
Chr18:18p11.32		 likely benign
GRCh37/hg19 18p11.32-11.31(chr18:136226-4464955)x1 copy number loss See cases [RCV000448448] Chr18:136226..4464955 [GRCh37]
Chr18:18p11.32-11.31		 pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18534784)x4 copy number gain See cases [RCV000447836] Chr18:136226..18534784 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3 copy number gain See cases [RCV000512118] Chr18:136226..21657790 [GRCh37]
Chr18:18p11.32-q11.2		 pathogenic
GRCh37/hg19 18p11.32(chr18:136226-2296833)x1 copy number loss See cases [RCV000512129] Chr18:136226..2296833 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32(chr18:136226-718854)x3 copy number gain See cases [RCV000510661] Chr18:136226..718854 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3 copy number gain See cases [RCV000511857] Chr18:136227..46171053 [GRCh37]
Chr18:18p11.32-q21.1		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x3 copy number gain See cases [RCV000511520] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic|uncertain significance
GRCh37/hg19 18p11.32(chr18:136226-1742272)x1 copy number loss See cases [RCV000511941] Chr18:136226..1742272 [GRCh37]
Chr18:18p11.32		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x1 copy number loss See cases [RCV000511826] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18521285)x4 copy number gain See cases [RCV000511949] Chr18:136226..18521285 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:136226-5323941)x1 copy number loss See cases [RCV000510776] Chr18:136226..5323941 [GRCh37]
Chr18:18p11.32-11.31		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:13034-15026309)x1 copy number loss See cases [RCV000515578] Chr18:13034..15026309 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:1-15157836)x1 copy number loss See cases [RCV000512162] Chr18:1..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x1 copy number loss See cases [RCV000512537] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
Single allele duplication not provided [RCV000677916] Chr18:416490..8638370 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.32-11.23(chr18:136226-8057394)x1 copy number loss not provided [RCV000684044] Chr18:136226..8057394 [GRCh37]
Chr18:18p11.32-11.23		 pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:136226-10074733)x1 copy number loss not provided [RCV000684046] Chr18:136226..10074733 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-12767079)x1 copy number loss not provided [RCV000684048] Chr18:136226..12767079 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4 copy number gain not provided [RCV000684052] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198989)x1 copy number loss not provided [RCV000684053] Chr18:136226..15198989 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4 copy number gain not provided [RCV000684054] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32(chr18:544117-2243194)x1 copy number loss not provided [RCV000684027] Chr18:544117..2243194 [GRCh37]
Chr18:18p11.32		 likely benign
GRCh37/hg19 18p11.32-11.31(chr18:136226-4925310)x1 copy number loss not provided [RCV000684041] Chr18:136226..4925310 [GRCh37]
Chr18:18p11.32-11.31		 pathogenic
GRCh37/hg19 18p11.32(chr18:544906-2702746)x3 copy number gain not provided [RCV000684030] Chr18:544906..2702746 [GRCh37]
Chr18:18p11.32		 uncertain significance
NC_000018.10:g.(?_10000)_(1543845_?)del deletion Autism [RCV000754207] Chr18:10000..1543845 [GRCh38]
Chr18:18p11.32		 likely pathogenic
GRCh37/hg19 18p11.32(chr18:12842-1078213)x1 copy number loss not provided [RCV000752243] Chr18:12842..1078213 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32(chr18:12842-1606526)x1 copy number loss not provided [RCV000752244] Chr18:12842..1606526 [GRCh37]
Chr18:18p11.32		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136304-15143714)x1 copy number loss not provided [RCV001006952] Chr18:136304..15143714 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15175005)x1 copy number loss not provided [RCV001006953] Chr18:136226..15175005 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:124335-14139006)x1 copy number loss not provided [RCV000752249] Chr18:124335..14139006 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32(chr18:444687-687270)x1 copy number loss not provided [RCV000752251] Chr18:444687..687270 [GRCh37]
Chr18:18p11.32		 benign
GRCh37/hg19 18p11.32(chr18:466283-680520)x3 copy number gain not provided [RCV000752252] Chr18:466283..680520 [GRCh37]
Chr18:18p11.32		 benign
GRCh37/hg19 18p11.32(chr18:469993-683607)x3 copy number gain not provided [RCV000752253] Chr18:469993..683607 [GRCh37]
Chr18:18p11.32		 benign
GRCh37/hg19 18p11.32-11.31(chr18:136226-3502493)x1 copy number loss not provided [RCV001006930] Chr18:136226..3502493 [GRCh37]
Chr18:18p11.32-11.31		 pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:544117-5679224)x1 copy number loss not provided [RCV001006933] Chr18:544117..5679224 [GRCh37]
Chr18:18p11.32-11.31		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-13894429)x1 copy number loss not provided [RCV001006947] Chr18:136226..13894429 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_001071.4(TYMS):c.96G>A (p.Gln32=) single nucleotide variant not provided [RCV000940349] Chr18:657838 [GRCh38]
Chr18:657838 [GRCh37]
Chr18:18p11.32		 likely benign
NM_001071.4(TYMS):c.786C>T (p.Ile262=) single nucleotide variant not provided [RCV000891820] Chr18:671433 [GRCh38]
Chr18:671433 [GRCh37]
Chr18:18p11.32		 likely benign
GRCh37/hg19 18p11.32(chr18:660382-724210)x3 copy number gain not provided [RCV000848777] Chr18:660382..724210 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32(chr18:136226-1197643)x3 copy number gain not provided [RCV000848504] Chr18:136226..1197643 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32(chr18:517102-1331930)x3 copy number gain not provided [RCV000846662] Chr18:517102..1331930 [GRCh37]
Chr18:18p11.32		 uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787395] Chr18:12774..1652788 [GRCh37]
Chr18:18p11.32		 pathogenic
GRCh37/hg19 18p11.32(chr18:640537-2502449)x3 copy number gain not provided [RCV000847723] Chr18:640537..2502449 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32-11.31(chr18:136226-5407839)x1 copy number loss not provided [RCV001006932] Chr18:136226..5407839 [GRCh37]
Chr18:18p11.32-11.31		 pathogenic
GRCh37/hg19 18p11.32(chr18:517102-1331930)x3 copy number gain not provided [RCV001006923] Chr18:517102..1331930 [GRCh37]
Chr18:18p11.32		 likely benign
GRCh37/hg19 18p11.32(chr18:544117-2238246)x1 copy number loss not provided [RCV000849421] Chr18:544117..2238246 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32(chr18:136226-1552876)x1 copy number loss not provided [RCV001006925] Chr18:136226..1552876 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32(chr18:560767-845592)x1 copy number loss not provided [RCV000845835] Chr18:560767..845592 [GRCh37]
Chr18:18p11.32		 uncertain significance
NM_017512.7(ENOSF1):c.*1219T>C single nucleotide variant not provided [RCV001620423] Chr18:673086 [GRCh38]
Chr18:673086 [GRCh37]
Chr18:18p11.32		 benign
GRCh37/hg19 18p11.32-11.23(chr18:136227-7218594)x1 copy number loss not provided [RCV002472636] Chr18:136227..7218594 [GRCh37]
Chr18:18p11.32-11.23		 pathogenic
GRCh37/hg19 18p11.32(chr18:544117-2243194)x3 copy number gain not provided [RCV001006927] Chr18:544117..2243194 [GRCh37]
Chr18:18p11.32		 likely benign
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18529578)x1 copy number loss not provided [RCV001006954] Chr18:136226..18529578 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:13034-15330525)x1 copy number loss See cases [RCV001007421] Chr18:13034..15330525 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32(chr18:544117-2279032)x1 copy number loss not provided [RCV001258709] Chr18:544117..2279032 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-14632436)x1 copy number loss See cases [RCV002285056] Chr18:136226..14632436 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32(chr18:136226-2243194)x1 copy number loss not provided [RCV001258710] Chr18:136226..2243194 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32(chr18:136226-2626840)x1 copy number loss not provided [RCV001258705] Chr18:136226..2626840 [GRCh37]
Chr18:18p11.32		 pathogenic|uncertain significance
GRCh37/hg19 18p11.32-11.23(chr18:136226-7131132) copy number loss Deletion of short arm of chromosome 18 [RCV002280711] Chr18:136226..7131132 [GRCh37]
Chr18:18p11.32-11.23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:136226-3415478)x1 copy number loss not provided [RCV001258861] Chr18:136226..3415478 [GRCh37]
Chr18:18p11.32-11.31		 pathogenic
GRCh37/hg19 18p11.32(chr18:351499-825957)x3 copy number gain not provided [RCV001258704] Chr18:351499..825957 [GRCh37]
Chr18:18p11.32		 likely benign
GRCh37/hg19 18p11.32(chr18:10001-1322185) copy number gain See cases [RCV001263035] Chr18:10001..1322185 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32(chr18:1-2243194)x3 copy number gain not provided [RCV001258706] Chr18:1..2243194 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32-11.31(chr18:64996-6838315)x1 copy number loss not provided [RCV001537912] Chr18:64996..6838315 [GRCh37]
Chr18:18p11.32-11.31		 pathogenic
GRCh37/hg19 18p11.32(chr18:136227-2694169)x1 copy number loss not provided [RCV001833048] Chr18:136227..2694169 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32(chr18:617707-2154890)x3 copy number gain not provided [RCV001834224] Chr18:617707..2154890 [GRCh37]
Chr18:18p11.32		 likely benign
GRCh37/hg19 18p11.32-11.1(chr18:10501-15410398)x1 copy number loss Deletion of short arm of chromosome 18 [RCV001801193] Chr18:10501..15410398 [GRCh37]
Chr18:18p11.32-11.1		 pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:64647-4472031)x3 copy number loss not provided [RCV001795839] Chr18:64647..4472031 [GRCh37]
Chr18:18p11.32-11.31		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-13655146) copy number loss not specified [RCV002052610] Chr18:136226..13655146 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938) copy number loss not specified [RCV002052612] Chr18:136226..14983938 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:136226-6103499) copy number loss not specified [RCV002052609] Chr18:136226..6103499 [GRCh37]
Chr18:18p11.32-11.31		 pathogenic
GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3 copy number gain not provided [RCV001832915] Chr18:136226..25252276 [GRCh37]
Chr18:18p11.32-q12.1		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990) copy number gain not specified [RCV002052613] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14384326) copy number gain not specified [RCV002052611] Chr18:136226..14384326 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990) copy number loss not specified [RCV002052614] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3 copy number gain not provided [RCV002276058] Chr18:47390..14854037 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_001071.4(TYMS):c.259G>A (p.Glu87Lys) single nucleotide variant Dyskeratosis congenita [RCV002269392] Chr18:659694 [GRCh38]
Chr18:659694 [GRCh37]
Chr18:18p11.32		 uncertain significance
NM_001071.4(TYMS):c.480A>T (p.Gln160His) single nucleotide variant Dyskeratosis congenita [RCV002269394]|Dyskeratosis congenita, digenic [RCV002285187] Chr18:669097 [GRCh38]
Chr18:669097 [GRCh37]
Chr18:18p11.32		 pathogenic|uncertain significance
NM_001071.4(TYMS):c.811C>T (p.Arg271Ter) single nucleotide variant Dyskeratosis congenita [RCV002269398] Chr18:672866 [GRCh38]
Chr18:672866 [GRCh37]
Chr18:18p11.32		 pathogenic
NM_001071.4(TYMS):c.534_535insTG (p.Met179Ter) insertion Dyskeratosis congenita [RCV002269396]|Dyskeratosis congenita, digenic [RCV002285189] Chr18:669151..669152 [GRCh38]
Chr18:669151..669152 [GRCh37]
Chr18:18p11.32		 pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:1-8638260)x1 copy number loss not provided [RCV002292972] Chr18:1..8638260 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
NM_001071.4(TYMS):c.556+1G>A single nucleotide variant Dyskeratosis congenita [RCV002269397] Chr18:669174 [GRCh38]
Chr18:669174 [GRCh37]
Chr18:18p11.32		 pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:136226-10172941) copy number loss Deletion of short arm of chromosome 18 [RCV002280710] Chr18:136226..10172941 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
NM_001071.4(TYMS):c.343C>T (p.Arg115Ter) single nucleotide variant Dyskeratosis congenita [RCV002269393]|Dyskeratosis congenita, digenic [RCV002285186] Chr18:662209 [GRCh38]
Chr18:662209 [GRCh37]
Chr18:18p11.32		 pathogenic
NM_001071.4(TYMS):c.486_487del (p.Arg163fs) deletion Dyskeratosis congenita [RCV002269395]|Dyskeratosis congenita, digenic [RCV002285188] Chr18:669102..669103 [GRCh38]
Chr18:669102..669103 [GRCh37]
Chr18:18p11.32		 pathogenic
GRCh37/hg19 18p11.32(chr18:136227-2626840)x1 copy number loss not provided [RCV002473718] Chr18:136227..2626840 [GRCh37]
Chr18:18p11.32		 uncertain significance
NM_001071.4(TYMS):c.554G>A (p.Arg185Lys) single nucleotide variant Inborn genetic diseases [RCV002968890] Chr18:669171 [GRCh38]
Chr18:669171 [GRCh37]
Chr18:18p11.32		 likely benign
GRCh37/hg19 18p11.32-11.21(chr18:136227-11283184)x1 copy number loss not provided [RCV002472559] Chr18:136227..11283184 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_001071.4(TYMS):c.10G>T (p.Ala4Ser) single nucleotide variant Inborn genetic diseases [RCV002708917] Chr18:657752 [GRCh38]
Chr18:657752 [GRCh37]
Chr18:18p11.32		 uncertain significance
NM_001071.4(TYMS):c.70C>A (p.Pro24Thr) single nucleotide variant Inborn genetic diseases [RCV002641311] Chr18:657812 [GRCh38]
Chr18:657812 [GRCh37]
Chr18:18p11.32		 uncertain significance
NM_001071.4(TYMS):c.85G>A (p.Gly29Arg) single nucleotide variant Inborn genetic diseases [RCV002827154] Chr18:657827 [GRCh38]
Chr18:657827 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh37/hg19 18p11.32-11.1(chr18:1-15400035) copy number loss Deletion of short arm of chromosome 18 [RCV003159575] Chr18:1..15400035 [GRCh37]
Chr18:18p11.32-11.1		 pathogenic
NM_001071.4(TYMS):c.360C>G (p.Ser120Arg) single nucleotide variant Inborn genetic diseases [RCV003309777] Chr18:662226 [GRCh38]
Chr18:662226 [GRCh37]
Chr18:18p11.32		 uncertain significance
NM_001071.4(TYMS):c.710T>C (p.Ile237Thr) single nucleotide variant Inborn genetic diseases [RCV003263147] Chr18:670845 [GRCh38]
Chr18:670845 [GRCh37]
Chr18:18p11.32		 uncertain significance
GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1 copy number loss Deletion of short arm of chromosome 18 [RCV003327630] Chr18:158286..14124574 [GRCh38]
Chr18:18p11.32-11.21		 pathogenic
NM_001071.4(TYMS):c.205+200C>A single nucleotide variant not provided [RCV003421569] Chr18:658147 [GRCh38]
Chr18:658147 [GRCh37]
Chr18:18p11.32		 benign
GRCh37/hg19 18p11.32-11.22(chr18:136227-8513569)x1 copy number loss not provided [RCV003483329] Chr18:136227..8513569 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4 copy number gain not provided [RCV003485366] Chr18:136227..18521285 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1 copy number loss not provided [RCV003483328] Chr18:136227..14585159 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_001071.4(TYMS):c.690C>T (p.Tyr230=) single nucleotide variant not provided [RCV003421570] Chr18:670825 [GRCh38]
Chr18:670825 [GRCh37]
Chr18:18p11.32		 likely benign
GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3 copy number gain not specified [RCV003986102] Chr18:136227..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3 copy number gain not specified [RCV003987266] Chr18:136226..14148354 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1 copy number loss not specified [RCV003987287] Chr18:136226..15161581 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3 copy number gain not specified [RCV003987269] Chr18:136226..14455323 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:136226-10365982)x1 copy number loss not specified [RCV003987270] Chr18:136226..10365982 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.32-11.31(chr18:544117-5679224)x1 copy number loss not specified [RCV003987286] Chr18:544117..5679224 [GRCh37]
Chr18:18p11.32-11.31		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1 copy number loss not specified [RCV003987292] Chr18:136226..14352648 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.23(chr18:136227-8359829)x1 copy number loss not specified [RCV003987293] Chr18:136227..8359829 [GRCh37]
Chr18:18p11.32-11.23		 pathogenic
NM_001071.4(TYMS):c.381A>G (p.Glu127=) single nucleotide variant TYMS-related condition [RCV003919872] Chr18:662247 [GRCh38]
Chr18:662247 [GRCh37]
Chr18:18p11.32		 benign
NM_001071.4(TYMS):c.136A>C (p.Arg46=) single nucleotide variant TYMS-related condition [RCV003962145] Chr18:657878 [GRCh38]
Chr18:657878 [GRCh37]
Chr18:18p11.32		 likely benign
NM_001071.4(TYMS):c.43C>T (p.Pro15Ser) single nucleotide variant TYMS-related condition [RCV003981241] Chr18:657785 [GRCh38]
Chr18:657785 [GRCh37]
Chr18:18p11.32		 benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:816
Count of miRNA genes:493
Interacting mature miRNAs:535
Transcripts:ENST00000323224, ENST00000323250, ENST00000323274, ENST00000579128, ENST00000581920, ENST00000584122
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
STS-X67098  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3718672,627 - 672,882UniSTSGRCh37
Build 3618662,627 - 662,882RGDNCBI36
Celera18546,938 - 547,193RGD
Cytogenetic Map18p11.32UniSTS
HuRef18633,064 - 633,319UniSTS
GeneMap99-GB4 RH Map1813.7UniSTS
D18S1240  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3718673,048 - 673,165UniSTSGRCh37
Build 3618663,048 - 663,165RGDNCBI36
Celera18547,359 - 547,476RGD
Cytogenetic Map18p11.32UniSTS
HuRef18633,485 - 633,602UniSTS
GeneMap99-GB4 RH Map1815.13UniSTS
Whitehead-RH Map1812.4UniSTS
Whitehead-YAC Contig Map18 UniSTS
RH79165  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3718672,624 - 672,807UniSTSGRCh37
Build 3618662,624 - 662,807RGDNCBI36
Celera18546,935 - 547,118RGD
Cytogenetic Map18p11.32UniSTS
HuRef18633,061 - 633,244UniSTS
GeneMap99-GB4 RH Map1812.49UniSTS
A009V35  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3718670,194 - 670,345UniSTSGRCh37
GRCh3711129,196,316 - 129,196,509UniSTSGRCh37
Build 3611128,701,526 - 128,701,719RGDNCBI36
Celera18544,505 - 544,656UniSTS
Celera11126,365,046 - 126,365,239RGD
HuRef18630,632 - 630,783UniSTS
HuRef11125,148,084 - 125,148,277UniSTS
GeneMap99-GB4 RH Map1813.7UniSTS
RH93239  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3718668,284 - 668,372UniSTSGRCh37
Build 3618658,284 - 658,372RGDNCBI36
Celera18542,595 - 542,683RGD
Cytogenetic Map18p11.32UniSTS
HuRef18628,724 - 628,812UniSTS
GeneMap99-GB4 RH Map1815.93UniSTS
GDB:181558  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3718673,143 - 673,432UniSTSGRCh37
Build 3618663,143 - 663,432RGDNCBI36
Celera18547,454 - 547,743RGD
Cytogenetic Map18p11.32UniSTS
HuRef18633,580 - 633,869UniSTS
GDB:217066  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3718665,194 - 666,605UniSTSGRCh37
Build 3618655,194 - 656,605RGDNCBI36
Celera18539,966 - 541,378RGD
Cytogenetic Map18p11.32UniSTS
HuRef18625,224 - 626,640UniSTS
TYMS_1340  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3718672,867 - 673,555UniSTSGRCh37
Build 3618662,867 - 663,555RGDNCBI36
Celera18547,178 - 547,866RGD
HuRef18633,304 - 633,992UniSTS
D18S1308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3718673,292 - 673,438UniSTSGRCh37
Build 3618663,292 - 663,438RGDNCBI36
Celera18547,603 - 547,749RGD
Cytogenetic Map18p11.32UniSTS
HuRef18633,729 - 633,875UniSTS
GeneMap99-G3 RH Map1816.0UniSTS
D18S1296  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3718673,277 - 673,438UniSTSGRCh37
Build 3618663,277 - 663,438RGDNCBI36
Celera18547,588 - 547,749RGD
Cytogenetic Map18p11.32UniSTS
HuRef18633,714 - 633,875UniSTS
Stanford-G3 RH Map1825.0UniSTS
GeneMap99-G3 RH Map1825.0UniSTS
RH11010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3718673,278 - 673,420UniSTSGRCh37
Build 3618663,278 - 663,420RGDNCBI36
Celera18547,589 - 547,731RGD
Cytogenetic Map18p11.32UniSTS
HuRef18633,715 - 633,857UniSTS
GeneMap99-GB4 RH Map1813.7UniSTS
G32887  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3718670,194 - 670,345UniSTSGRCh37
GRCh3718669,540 - 670,345UniSTSGRCh37
Celera18544,505 - 544,656UniSTS
Celera18543,851 - 544,656UniSTS
Cytogenetic Map18p11.32UniSTS
HuRef18629,984 - 630,783UniSTS
HuRef18630,632 - 630,783UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 486 132 188 146 949 135 464 69 211 209 737 437 25 46 78 3
Low 1951 2601 1534 475 880 328 3284 1385 3426 208 717 1171 150 1 1158 2102 3 1
Below cutoff 2 251 2 2 117 2 605 736 92 1 4 2 605

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB062290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB077207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB077208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF127520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF134215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF279905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF279906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF279907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC083512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D00517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D00596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC907497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ287576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ287577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY016886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY269620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X02308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000323224   ⟹   ENSP00000314727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl18657,743 - 673,484 (+)Ensembl
RefSeq Acc Id: ENST00000323250   ⟹   ENSP00000314902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl18657,743 - 672,997 (+)Ensembl
RefSeq Acc Id: ENST00000323274   ⟹   ENSP00000315644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl18657,653 - 673,578 (+)Ensembl
RefSeq Acc Id: ENST00000579128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl18657,665 - 669,464 (+)Ensembl
RefSeq Acc Id: ENST00000581920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl18667,721 - 673,363 (+)Ensembl
RefSeq Acc Id: ENST00000584122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl18658,264 - 659,689 (+)Ensembl
RefSeq Acc Id: NM_001071   ⟹   NP_001062
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3818657,653 - 673,578 (+)NCBI
GRCh3718657,590 - 673,499 (+)NCBI
Build 3618647,651 - 663,492 (+)NCBI Archive
HuRef18617,665 - 633,936 (+)ENTREZGENE
CHM1_118656,968 - 672,692 (+)NCBI
T2T-CHM13v2.018811,985 - 827,856 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354867   ⟹   NP_001341796
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3818657,653 - 673,578 (+)NCBI
T2T-CHM13v2.018811,985 - 827,856 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354868   ⟹   NP_001341797
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3818657,653 - 673,578 (+)NCBI
T2T-CHM13v2.018811,985 - 827,856 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451242   ⟹   XP_024307010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3818666,837 - 673,578 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054319042   ⟹   XP_054175017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.018816,830 - 827,856 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001062 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341796 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341797 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307010 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175017 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD43903 (Get FASTA)   NCBI Sequence Viewer  
  AAF66448 (Get FASTA)   NCBI Sequence Viewer  
  AAH02567 (Get FASTA)   NCBI Sequence Viewer  
  AAH13919 (Get FASTA)   NCBI Sequence Viewer  
  AAH83512 (Get FASTA)   NCBI Sequence Viewer  
  AAP35457 (Get FASTA)   NCBI Sequence Viewer  
  ADP55736 (Get FASTA)   NCBI Sequence Viewer  
  BAA00404 (Get FASTA)   NCBI Sequence Viewer  
  BAA00472 (Get FASTA)   NCBI Sequence Viewer  
  BAB83676 (Get FASTA)   NCBI Sequence Viewer  
  BAB83677 (Get FASTA)   NCBI Sequence Viewer  
  BAB93473 (Get FASTA)   NCBI Sequence Viewer  
  BAD97092 (Get FASTA)   NCBI Sequence Viewer  
  BAF85309 (Get FASTA)   NCBI Sequence Viewer  
  BAG36830 (Get FASTA)   NCBI Sequence Viewer  
  CAA26178 (Get FASTA)   NCBI Sequence Viewer  
  CBN68109 (Get FASTA)   NCBI Sequence Viewer  
  EAX01716 (Get FASTA)   NCBI Sequence Viewer  
  EAX01717 (Get FASTA)   NCBI Sequence Viewer  
  EAX01718 (Get FASTA)   NCBI Sequence Viewer  
  EAX01719 (Get FASTA)   NCBI Sequence Viewer  
  EAX01720 (Get FASTA)   NCBI Sequence Viewer  
  EAX01721 (Get FASTA)   NCBI Sequence Viewer  
  EAX01722 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000314727
  ENSP00000314727.7
  ENSP00000314902
  ENSP00000314902.5
  ENSP00000315644
  ENSP00000315644.10
GenBank Protein P04818 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001062   ⟸   NM_001071
- Peptide Label: isoform 1
- UniProtKB: Q8WYK3 (UniProtKB/Swiss-Prot),   Q8WYK4 (UniProtKB/Swiss-Prot),   P04818 (UniProtKB/Swiss-Prot),   Q53Y97 (UniProtKB/TrEMBL),   A8K9A5 (UniProtKB/TrEMBL),   Q53FB7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341796   ⟸   NM_001354867
- Peptide Label: isoform 2
- UniProtKB: A8K9A5 (UniProtKB/TrEMBL),   Q53FB7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341797   ⟸   NM_001354868
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: XP_024307010   ⟸   XM_024451242
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000314902   ⟸   ENST00000323250
RefSeq Acc Id: ENSP00000315644   ⟸   ENST00000323274
RefSeq Acc Id: ENSP00000314727   ⟸   ENST00000323224
RefSeq Acc Id: XP_054175017   ⟸   XM_054319042
- Peptide Label: isoform X1
Protein Domains
Thymidylate synthase/dCMP hydroxymethylase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P04818-F1-model_v2 AlphaFold P04818 1-313 view protein structure

Promoters
RGD ID:6795035
Promoter ID:HG_KWN:27478
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000254316,   UC010DKB.1,   UC010DKC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3618647,309 - 647,809 (+)MPROMDB
RGD ID:6853500
Promoter ID:EP74577
Type:initiation region
Name:HS_TYMS_1
Description:Thymidylate synthetase.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #1 of 2; 5' exon 1; site 1.; see alsoEP74578  
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 3618647,629 - 647,689EPD
RGD ID:6853502
Promoter ID:EP74578
Type:initiation region
Name:HS_TYMS_2
Description:Thymidylate synthetase.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #2 of 2; 5' exon 1; site 2; major promoter.; see alsoEP74577  
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 3618647,697 - 647,757EPD
RGD ID:7236807
Promoter ID:EPDNEW_H24149
Type:initiation region
Name:TYMS_3
Description:thymidylate synthetase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24150  EPDNEW_H24151  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3818657,514 - 657,574EPDNEW
RGD ID:7236809
Promoter ID:EPDNEW_H24150
Type:initiation region
Name:TYMS_2
Description:thymidylate synthetase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24149  EPDNEW_H24151  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3818657,653 - 657,713EPDNEW
RGD ID:7236811
Promoter ID:EPDNEW_H24151
Type:initiation region
Name:TYMS_1
Description:thymidylate synthetase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24149  EPDNEW_H24150  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3818657,804 - 657,864EPDNEW
RGD ID:6811476
Promoter ID:HG_ACW:37073
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENOSF1.VDAPR07-UNSPLICED,   SPORRY.AAPR07-UNSPLICED,   TYMS.DAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 3618658,601 - 659,101 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12441 AgrOrtholog
COSMIC TYMS COSMIC
Ensembl Genes ENSG00000176890 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000323224 ENTREZGENE
  ENST00000323224.7 UniProtKB/Swiss-Prot
  ENST00000323250 ENTREZGENE
  ENST00000323250.9 UniProtKB/Swiss-Prot
  ENST00000323274 ENTREZGENE
  ENST00000323274.15 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.572.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000176890 GTEx
HGNC ID HGNC:12441 ENTREZGENE
Human Proteome Map TYMS Human Proteome Map
InterPro Thymidate_synth/dCMP_Mease UniProtKB/Swiss-Prot
  Thymidate_synth/dCMP_Mease UniProtKB/Swiss-Prot
  Thymidate_synth/dCMP_Mease UniProtKB/TrEMBL
  Thymidate_synth/dCMP_Mease UniProtKB/TrEMBL
  Thymidate_synth/dCMP_Mease_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thymidylate_synthase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thymidylate_synthase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7298 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7298 ENTREZGENE
OMIM 188350 OMIM
PANTHER PTHR11548 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THYMIDYLATE SYNTHASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Thymidylat_synt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA359 PharmGKB, RGD
PRINTS THYMDSNTHASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE THYMIDYLATE_SYNTHASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55831 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K9A5 ENTREZGENE, UniProtKB/TrEMBL
  P04818 ENTREZGENE
  Q53FB7 ENTREZGENE, UniProtKB/TrEMBL
  Q53Y97 ENTREZGENE, UniProtKB/TrEMBL
  Q8WYK3 ENTREZGENE
  Q8WYK4 ENTREZGENE
  TYSY_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q8WYK3 UniProtKB/Swiss-Prot
  Q8WYK4 UniProtKB/Swiss-Prot