IL33 (interleukin 33) - Rat Genome Database

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Gene: IL33 (interleukin 33) Homo sapiens
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Symbol: IL33
Name: interleukin 33
RGD ID: 1322461
HGNC Page HGNC:16028
Description: Enables cytokine activity. Involved in negative regulation of inflammatory response to wounding; positive regulation of macrophage activation; and regulation of gene expression. Located in nucleoplasm. Part of cytoplasm and nucleus. Is active in extracellular space. Implicated in candidiasis; inflammatory bowel disease; and peptic ulcer disease. Biomarker of several diseases, including aortic atherosclerosis; colitis (multiple); common cold; liver disease (multiple); and tuberculosis (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C9orf26; DKFZp586H0523; DVS27; DVS27-related protein; IL-1F11; IL-33; IL1F11; interleukin-1 family member 11; interleukin-33; NF-HEV; NFEHEV; nuclear factor for high endothelial venules; nuclear factor from high endothelial venules; RP11-575C20.2
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
GRCh3896,215,149 - 6,257,983 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl96,215,786 - 6,257,983 (+)EnsemblGRCh38hg38GRCh38
GRCh3796,215,149 - 6,257,983 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3696,231,678 - 6,247,982 (+)NCBINCBI36Build 36hg18NCBI36
Build 3496,231,677 - 6,247,982NCBI
Celera96,179,137 - 6,195,439 (+)NCBICelera
Cytogenetic Map9p24.1NCBI
HuRef96,171,374 - 6,213,493 (+)NCBIHuRef
CHM1_196,216,394 - 6,258,768 (+)NCBICHM1_1
T2T-CHM13v2.096,220,289 - 6,263,045 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute myocardial infarction  (ISO)
Alzheimer's disease  (ISS)
angiostrongyliasis  (ISO)
aortic atherosclerosis  (IEP)
asthma  (EXP,IEP,ISO)
atopic dermatitis  (EXP)
candidiasis  (IDA)
Cardiomegaly  (ISO)
Cardiovirus Infections  (ISO)
cerebral malaria  (ISO)
chromosome 9p deletion syndrome  (IAGP)
Chronic Hepatitis B  (IEP,ISO)
chronic obstructive pulmonary disease  (ISO)
Chronic Periodontitis  (IEP)
clonorchiasis  (IEP,ISO)
Clostridium difficile colitis  (ISO)
colitis  (IEP,ISO)
colon cancer  (ISO)
common cold  (IEP)
cryptococcosis  (ISO)
dengue disease  (ISO)
diabetes mellitus  (ISO)
Experimental Arthritis  (EXP)
Experimental Colitis  (ISO)
Experimental Liver Cirrhosis  (EXP)
familial hemophagocytic lymphohistiocytosis 2  (ISO)
Fungal Lung Diseases  (ISO)
gout  (IEP)
Hantavirus hemorrhagic fever with renal syndrome  (IEP)
Helicobacter Infections  (IEP)
Hemolysis  (IEP)
herpes simplex  (IEP,ISO)
Hookworm Infections  (ISO)
Hyperalgesia  (ISO)
Immediate Hypersensitivity  (EXP)
inflammatory bowel disease  (IDA)
influenza  (ISO)
Intervertebral Disc Displacement  (ISO)
irritable bowel syndrome  (IEP)
kidney disease  (EXP)
listeriosis  (ISO)
liver cirrhosis  (IEP,ISO)
malaria  (ISO)
Nematode Infections  (ISO)
paracoccidioidomycosis  (IEP)
parasitic helminthiasis infectious disease  (ISO)
peptic ulcer disease  (IAGP)
periodontitis  (ISO)
pleural tuberculosis  (IEP)
pneumocystosis  (ISO)
pneumonia  (EXP)
prostate cancer  (IAGP)
Pseudomonas Infections  (ISO)
pulmonary edema  (IEP)
pulmonary tuberculosis  (ISO)
respiratory allergy  (ISO)
respiratory syncytial virus infectious disease  (ISO)
schistosomiasis  (ISO)
Schistosomiasis Japonica  (IEP,ISO)
Sepsis  (IEP,ISO)
Staphylococcal Pneumonia  (ISO)
Staphylococcal Skin Infections  (ISO)
Strongylida Infections  (ISO)
Superinfection  (ISO)
tongue squamous cell carcinoma  (IEP)
tuberculosis  (IEP)
ulcerative colitis  (IEP,ISO)
Viral Bronchiolitis  (IEP)
viral encephalitis  (ISO)
Viral Myocarditis  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(S)-nicotine  (EXP,ISO)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (EXP)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3-bis(4-hydroxyphenyl)propionitrile  (EXP,ISO)
2-acetamidofluorene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-Hydroxy-6-(8,11,14-pentadecatrienyl)benzoic acid  (EXP)
2-hydroxypropanoic acid  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (EXP,ISO)
3-chloropropane-1,2-diol  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5'-S-methyl-5'-thioadenosine  (EXP)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
acetic acid  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucosamine  (ISO)
all-trans-retinoic acid  (ISO)
alpha-Zearalanol  (ISO)
AM-251  (ISO)
amiodarone  (ISO)
amitriptyline  (ISO)
antirheumatic drug  (EXP)
apigenin  (EXP)
Aroclor 1254  (ISO)
atrazine  (ISO)
avobenzone  (EXP)
benzo[a]pyrene  (ISO)
beta-D-glucosamine  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
bleomycin A2  (ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
cadmium sulfate  (ISO)
calcitriol  (EXP)
calycosin  (ISO)
carbon monoxide  (ISO)
carbon nanotube  (EXP,ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP,ISO)
clomipramine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
crocidolite asbestos  (EXP)
deoxynivalenol  (ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (ISO)
diuron  (EXP,ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
ferric oxide  (ISO)
ferulic acid  (ISO)
flavokawain B  (ISO)
flutamide  (ISO)
folic acid  (EXP)
formaldehyde  (EXP)
fragrance  (EXP)
furan  (ISO)
genistein  (ISO)
glutathione  (ISO)
glyphosate  (ISO)
graphene oxide  (ISO)
hydroquinone  (EXP)
imipramine  (ISO)
imiquimod  (ISO)
indole-3-methanol  (ISO)
irinotecan  (EXP)
kaempferol  (EXP,ISO)
ketoconazole  (ISO)
leflunomide  (ISO)
lidocaine  (ISO)
lipopolysaccharide  (EXP)
luteolin  (EXP)
lysophosphatidylcholine  (EXP)
mechlorethamine  (ISO)
mercury atom  (ISO)
mercury(0)  (ISO)
metformin  (ISO)
methoxychlor  (ISO)
microcystin-LR  (ISO)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
Muraglitazar  (ISO)
N-acetyl-L-cysteine  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nicotine  (EXP,ISO)
orphenadrine  (ISO)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
pemetrexed  (EXP)
pentanal  (EXP)
pentane-2,3-dione  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
phosgene  (ISO)
pirinixic acid  (ISO)
poly(I:C)  (EXP,ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP,ISO)
quartz  (ISO)
quinazolines  (EXP)
rac-lactic acid  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
silicon dioxide  (EXP,ISO)
sodium dichromate  (ISO)
sodium dodecyl sulfate  (EXP)
staurosporine  (EXP)
streptozocin  (ISO)
sulforaphane  (ISO)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
toluene 2,4-diisocyanate  (ISO)
topotecan  (ISO)
tremolite asbestos  (ISO)
trichloroethene  (ISO)
triclosan  (EXP,ISO)
trimellitic anhydride  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
Vinpocetine  (ISO)
WIN 55212-2  (ISO)
zaragozic acid A  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
antibacterial innate immune response  (ISS)
cellular response to mechanical stimulus  (IEA,ISO)
defense response to virus  (IEA,ISO)
extrinsic apoptotic signaling pathway  (IEA,ISO)
gene expression  (IEA,ISO)
interleukin-33-mediated signaling pathway  (IEA,ISS)
macrophage activation involved in immune response  (IEA)
macrophage differentiation  (IEA,ISS)
microglial cell activation involved in immune response  (IEA)
microglial cell proliferation  (IEA)
negative regulation of immunoglobulin production  (IEA)
negative regulation of inflammatory response to wounding  (IDA,IEA)
negative regulation of leukocyte migration  (IEA)
negative regulation of macrophage proliferation  (IEA,ISS)
negative regulation of T-helper 1 type immune response  (IEA)
negative regulation of transcription by RNA polymerase II  (IMP)
negative regulation of type II interferon production  (IEA)
obsolete positive regulation of nitric-oxide synthase biosynthetic process  (IEA)
positive regulation of CD80 production  (IEA,ISS)
positive regulation of CD86 production  (IEA,ISS)
positive regulation of cellular defense response  (IEA,ISS)
positive regulation of chemokine production  (IDA,IEA)
positive regulation of cytokine production  (IBA)
positive regulation of gene expression  (IEA,ISS)
positive regulation of immunoglobulin production  (IEA)
positive regulation of inflammatory response  (IBA,IEA,ISS)
positive regulation of interleukin-13 production  (IEA)
positive regulation of interleukin-4 production  (IEA)
positive regulation of interleukin-5 production  (IEA)
positive regulation of interleukin-6 production  (IEA,ISS)
positive regulation of macrophage activation  (IDA,IEA,ISS)
positive regulation of MHC class I biosynthetic process  (IEA,ISO)
positive regulation of MHC class II biosynthetic process  (IEA,ISO)
positive regulation of neuroinflammatory response  (TAS)
positive regulation of oligodendrocyte differentiation  (IEA,ISO)
positive regulation of proteasomal ubiquitin-dependent protein catabolic process  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IEA,ISS)
positive regulation of tumor necrosis factor production  (IEA,ISS)
positive regulation of type 2 immune response  (IEA,ISO)
protein import into nucleus  (IEA)
response to wounding  (ISO)
signal transduction  (IEA)
type 2 immune response  (IEA,ISO)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Differential production of interleukin-1 family cytokines (IL-1β, IL-18, IL-33 and IL-37) in patients with paracoccidioidomycosis: correlation with clinical form and antifungal therapy. Alves ABRM, etal., Med Mycol. 2018 Apr 1;56(3):332-343. doi: 10.1093/mmy/myx050.
2. A potential role for interleukin-33 and gamma-epithelium sodium channel in the pathogenesis of human malaria associated lung injury. Ampawong S, etal., Malar J. 2015 Oct 5;14:389. doi: 10.1186/s12936-015-0922-x.
3. New Host-Directed Therapeutics for the Treatment of Clostridioides difficile Infection. Andersson JA, etal., mBio. 2020 Mar 10;11(2). pii: mBio.00053-20. doi: 10.1128/mBio.00053-20.
4. The Alarmin IL-33 Derived from HSV-2-Infected Keratinocytes Triggers Mast Cell-Mediated Antiviral Innate Immunity. Aoki R, etal., J Invest Dermatol. 2016 Jun;136(6):1290-1292. doi: 10.1016/j.jid.2016.01.030. Epub 2016 Feb 9.
5. Decreased circulating interleukin-33 concentration in Helicobacter pylori-infected patients with peptic ulcer: Evaluation of its association with a cytokine gene polymorphism, gender of patients and bacterial virulence factor CagA. Bassagh A, etal., Microb Pathog. 2019 Nov;136:103708. doi: 10.1016/j.micpath.2019.103708. Epub 2019 Sep 3.
6. IL-33-mediated protection against experimental cerebral malaria is linked to induction of type 2 innate lymphoid cells, M2 macrophages and regulatory T cells. Besnard AG, etal., PLoS Pathog. 2015 Feb 6;11(2):e1004607. doi: 10.1371/journal.ppat.1004607. eCollection 2015 Feb.
7. Liver-resident macrophage necroptosis orchestrates type 1 microbicidal inflammation and type-2-mediated tissue repair during bacterial infection. Blériot C, etal., Immunity. 2015 Jan 20;42(1):145-58. doi: 10.1016/j.immuni.2014.12.020. Epub 2014 Dec 25.
8. ILC2s and T cells cooperate to ensure maintenance of M2 macrophages for lung immunity against hookworms. Bouchery T, etal., Nat Commun. 2015 Apr 27;6:6970. doi: 10.1038/ncomms7970.
9. Helminth-derived molecules inhibit colitis-associated colon cancer development through NF-κB and STAT3 regulation. Callejas BE, etal., Int J Cancer. 2019 Dec 1;145(11):3126-3139. doi: 10.1002/ijc.32626. Epub 2019 Aug 30.
10. Pediatric severe asthma with fungal sensitization is mediated by steroid-resistant IL-33. Castanhinha S, etal., J Allergy Clin Immunol. 2015 Aug;136(2):312-22.e7. doi: 10.1016/j.jaci.2015.01.016. Epub 2015 Mar 5.
11. [Changes in plasma interleukin-33 concentration in sepsis and its correlation with seriousness of sepsis]. Chang D, etal., Zhonghua Wei Zhong Bing Ji Jiu Yi Xue. 2015 Feb;27(2):138-42. doi: 10.3760/cma.j.issn.2095-4352.2015.02.012.
12. [Correlation between acute schistosomiasis japonica and serum interleukin-33 levels]. Chen RQ, etal., Zhongguo Xue Xi Chong Bing Fang Zhi Za Zhi. 2012 Feb;24(1):32-4, 39.
13. Group 2 Innate Lymphoid Cells (ILC2s) Are Key Mediators of the Inflammatory Response in Polymicrobial Sepsis. Chun TT, etal., Am J Pathol. 2018 Sep;188(9):2097-2108. doi: 10.1016/j.ajpath.2018.05.009. Epub 2018 Jun 20.
14. Arginase-1 and Treg Profile Appear to Modulate Inflammatory Process in Patients with Chronic Gastritis: IL-33 May Be the Alarm Cytokine in H. pylori-Positive Patients. da Silva EAW, etal., Mediators Inflamm. 2019 Jun 20;2019:2536781. doi: 10.1155/2019/2536781. eCollection 2019.
15. IL-33 mediates the expressions of IL-5 and IL-13 in Angiostrongylus cantonensis-infected mice. Du WY, etal., Exp Parasitol. 2013 Nov;135(3):587-94. doi: 10.1016/j.exppara.2013.09.012. Epub 2013 Sep 27.
16. IL-33 signaling is essential to attenuate viral-induced encephalitis development by downregulating iNOS expression in the central nervous system. Franca RF, etal., J Neuroinflammation. 2016 Jun 22;13(1):159. doi: 10.1186/s12974-016-0628-1.
17. Thymic stromal lymphopoietin, IL-33, and periostin in hospitalized infants with viral bronchiolitis. García-García ML, etal., Medicine (Baltimore). 2017 May;96(18):e6787. doi: 10.1097/MD.0000000000006787.
18. Rhinovirus-induces progression of lung disease in a mouse model of COPD via IL-33/ST2 signaling axis. Gimenes JA, etal., Clin Sci (Lond). 2019 Apr 29;133(8):983-996. doi: 10.1042/CS20181088. Print 2019 Apr 30.
19. Group 2 innate lymphoid cells exhibit progressively higher levels of activation during worsening of liver fibrosis. Gonzalez-Polo V, etal., Ann Hepatol. 2019 Mar - Apr;18(2):366-372. doi: 10.1016/j.aohep.2018.12.001. Epub 2019 Apr 25.
20. NFATc1-E2F1-LMCD1-Mediated IL-33 Expression by Thrombin Is Required for Injury-Induced Neointima Formation. Govatati S, etal., Arterioscler Thromb Vasc Biol. 2019 Jun;39(6):1212-1226. doi: 10.1161/ATVBAHA.119.312729.
21. Natural helper cells mediate respiratory syncytial virus-induced airway inflammation by producing type 2 cytokines in an IL-33-dependent manner. Han X, etal., Immunotherapy. 2017 Aug;9(9):715-722. doi: 10.2217/imt-2017-0037. Epub 2017 Aug 3.
22. Down-regulation of microRNA-203-3p initiates type 2 pathology during schistosome infection via elevation of interleukin-33. He X, etal., PLoS Pathog. 2018 Mar 19;14(3):e1006957. doi: 10.1371/journal.ppat.1006957. eCollection 2018 Mar.
23. Lung epithelium is the major source of IL-33 and is regulated by IL-33-dependent and IL-33-independent mechanisms in pulmonary cryptococcosis. Heyen L, etal., Pathog Dis. 2016 Oct;74(7). pii: ftw086. doi: 10.1093/femspd/ftw086. Epub 2016 Sep 4.
24. Relevance of serum interleukin-33 and ST2 levels and the natural course of chronic hepatitis B virus infection. Huan SL, etal., BMC Infect Dis. 2016 May 16;16:200. doi: 10.1186/s12879-016-1543-x.
25. IL-33/ST2 signaling contributes to radicular pain by modulating MAPK and NF-κB activation and inflammatory mediator expression in the spinal cord in rat models of noncompressive lumber disk herniation. Huang SJ, etal., J Neuroinflammation. 2018 Jan 12;15(1):12. doi: 10.1186/s12974-017-1021-4.
26. Induction of IL-33 expression and activity in central nervous system glia. Hudson CA, etal., J Leukoc Biol. 2008 Sep;84(3):631-43. doi: 10.1189/jlb.1207830. Epub 2008 Jun 13.
27. Expression of interleukin-33 is correlated with poor prognosis of patients with squamous cell carcinoma of the tongue. Ishikawa K, etal., Auris Nasus Larynx. 2014 Dec;41(6):552-7. doi: 10.1016/j.anl.2014.08.007. Epub 2014 Sep 2.
28. IL-33 delivery induces serous cavity macrophage proliferation independent of interleukin-4 receptor alpha. Jackson-Jones LH, etal., Eur J Immunol. 2016 Oct;46(10):2311-2321. doi: 10.1002/eji.201646442.
29. IL-33 priming regulates multiple steps of the neutrophil-mediated anti-Candida albicans response by modulating TLR and dectin-1 signals. Le HT, etal., J Immunol. 2012 Jul 1;189(1):287-95. doi: 10.4049/jimmunol.1103564. Epub 2012 Jun 1.
30. Association between elevated pleural interleukin-33 levels and tuberculous pleurisy. Lee KS, etal., Ann Lab Med. 2013 Jan;33(1):45-51. doi: 10.3343/alm.2013.33.1.45. Epub 2012 Dec 17.
31. Combined detections of interleukin-33 and adenosine deaminase for diagnosis of tuberculous pleural effusion. Li D, etal., Int J Clin Exp Pathol. 2015 Jan 1;8(1):888-93. eCollection 2015.
32. Contribution of tissue transglutaminase to the severity of hepatic fibrosis resulting from Schistosoma japonicum infection through the regulation of IL-33/ST2 expression. Li ZY, etal., Parasit Vectors. 2019 Jun 14;12(1):302. doi: 10.1186/s13071-019-3542-4.
33. Natural helper cells contribute to pulmonary eosinophilia by producing IL-13 via IL-33/ST2 pathway in a murine model of respiratory syncytial virus infection. Liu J, etal., Int Immunopharmacol. 2015 Sep;28(1):337-43. doi: 10.1016/j.intimp.2015.05.035. Epub 2015 Jun 1.
34. Virus-like particles presenting interleukin-33 molecules: immunization characteristics and potentials of blockingIL-33/ST2 pathway in allergic airway inflammation. Long Q, etal., Hum Vaccin Immunother. 2014;10(8):2303-11. doi: 10.4161/hv.29425.
35. IL-33 Exacerbates Periodontal Disease through Induction of RANKL. Malcolm J, etal., J Dent Res. 2015 Jul;94(7):968-75. doi: 10.1177/0022034515577815. Epub 2015 Mar 25.
36. Interleukin-33 contributes to disease severity in Dengue virus infection in mice. Marques RE, etal., Immunology. 2018 Dec;155(4):477-490. doi: 10.1111/imm.12988. Epub 2018 Sep 10.
37. The effect of diabetes on ovaries in a rat model: the role of interleukin-33 and apoptosis. Nayki C, etal., Gynecol Endocrinol. 2017 Sep;33(9):708-711. doi: 10.1080/09513590.2017.1313971. Epub 2017 Apr 17.
38. IL-33 and M2a alveolar macrophages promote lung defense against the atypical fungal pathogen Pneumocystis murina. Nelson MP, etal., J Immunol. 2011 Feb 15;186(4):2372-81. doi: 10.4049/jimmunol.1002558. Epub 2011 Jan 10.
39. Critical role of IL-33 receptor ST2 in experimental cerebral malaria development. Palomo J, etal., Eur J Immunol. 2015 May;45(5):1354-65. doi: 10.1002/eji.201445206. Epub 2015 Mar 20.
40. Interleukin 33 mediates type 2 immunity and inflammation in the central nervous system of mice infected with Angiostrongylus cantonensis. Peng H, etal., J Infect Dis. 2013 Mar 1;207(5):860-9. doi: 10.1093/infdis/jis682. Epub 2012 Nov 12.
41. M2 macrophages or IL-33 treatment attenuate ongoing Mycobacterium tuberculosis infection. Piñeros AR, etal., Sci Rep. 2017 Jan 27;7:41240. doi: 10.1038/srep41240.
42. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
43. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
44. Novel protective mechanism for interleukin-33 at the mucosal barrier during influenza-associated bacterial superinfection. Robinson KM, etal., Mucosal Immunol. 2018 Jan;11(1):199-208. doi: 10.1038/mi.2017.32. Epub 2017 Apr 12.
45. ST2 contributes to T-cell hyperactivation and fatal hemophagocytic lymphohistiocytosis in mice. Rood JE, etal., Blood. 2016 Jan 28;127(4):426-35. doi: 10.1182/blood-2015-07-659813. Epub 2015 Oct 30.
46. IL-33 and ST2 comprise a critical biomechanically induced and cardioprotective signaling system. Sanada S, etal., J Clin Invest. 2007 Jun;117(6):1538-49. doi: 10.1172/JCI30634. Epub 2007 May 10.
47. IL-10-producing regulatory B cells induced by IL-33 (Breg(IL-33)) effectively attenuate mucosal inflammatory responses in the gut. Sattler S, etal., J Autoimmun. 2014 May;50:107-22. doi: 10.1016/j.jaut.2014.01.032. Epub 2014 Feb 1.
48. Neutralisation of the interleukin-33/ST2 pathway ameliorates experimental colitis through enhancement of mucosal healing in mice. Sedhom MA, etal., Gut. 2013 Dec;62(12):1714-23. doi: 10.1136/gutjnl-2011-301785. Epub 2012 Nov 21.
49. IL-33 promotes GATA-3 polarization of gut-derived T cells in experimental and ulcerative colitis. Seidelin JB, etal., J Gastroenterol. 2015 Feb;50(2):180-90. doi: 10.1007/s00535-014-0982-7. Epub 2014 Aug 12.
50. IL-33/ST2 contributes to severe symptoms in Plasmodium chabaudi-infected BALB/c mice. Seki T, etal., Parasitol Int. 2018 Feb;67(1):64-69. doi: 10.1016/j.parint.2017.03.008. Epub 2017 Mar 27.
51. IL-33 Ameliorates the Development of MSU-Induced Inflammation Through Expanding MDSCs-Like Cells. Shang K, etal., Front Endocrinol (Lausanne). 2019 Feb 26;10:36. doi: 10.3389/fendo.2019.00036. eCollection 2019.
52. Inflammatory bowel disease-associated interleukin-33 is preferentially expressed in ulceration-associated myofibroblasts. Sponheim J, etal., Am J Pathol. 2010 Dec;177(6):2804-15. doi: 10.2353/ajpath.2010.100378. Epub 2010 Oct 29.
53. Modulation of IL-33/ST2 system in postinfarction heart failure: correlation with cardiac remodelling markers. Sánchez-Más J, etal., Eur J Clin Invest. 2014 Jul;44(7):643-51. doi: 10.1111/eci.12282.
54. IL-33-induced alternatively activated macrophage attenuates the development of TNBS-induced colitis. Tu L, etal., Oncotarget. 2017 Apr 25;8(17):27704-27714. doi: 10.18632/oncotarget.15984.
55. IL-33 enhances macrophage M2 polarization and protects mice from CVB3-induced viral myocarditis. Wang C, etal., J Mol Cell Cardiol. 2017 Feb;103:22-30. doi: 10.1016/j.yjmcc.2016.12.010. Epub 2016 Dec 29.
56. Red Blood Cells Store and Release Interleukin-33. Wei J, etal., J Investig Med. 2015 Aug;63(6):806-10. doi: 10.1097/JIM.0000000000000213.
57. Chronic IL-33 expression predisposes to virus-induced asthma exacerbations by increasing type 2 inflammation and dampening antiviral immunity. Werder RB, etal., J Allergy Clin Immunol. 2018 May;141(5):1607-1619.e9. doi: 10.1016/j.jaci.2017.07.051. Epub 2017 Sep 22.
58. Trefoil factor 2 rapidly induces interleukin 33 to promote type 2 immunity during allergic asthma and hookworm infection. Wills-Karp M, etal., J Exp Med. 2012 Mar 12;209(3):607-22. doi: 10.1084/jem.20110079. Epub 2012 Feb 13.
59. Interleukin-33 contributes to ILC2 activation and early inflammation-associated lung injury during abdominal sepsis. Xu H, etal., Immunol Cell Biol. 2018 Oct;96(9):935-947. doi: 10.1111/imcb.12159. Epub 2018 May 17.
60. Contribution of IL-33-activated type II innate lymphoid cells to pulmonary eosinophilia in intestinal nematode-infected mice. Yasuda K, etal., Proc Natl Acad Sci U S A. 2012 Feb 28;109(9):3451-6. doi: 10.1073/pnas.1201042109. Epub 2012 Feb 13.
61. IL-33 promotes Staphylococcus aureus-infected wound healing in mice. Yin H, etal., Int Immunopharmacol. 2013 Oct;17(2):432-8. doi: 10.1016/j.intimp.2013.07.008. Epub 2013 Jul 25.
62. Expression and potential roles of IL-33/ST2 in the immune regulation during Clonorchis sinensis infection. Yu Q, etal., Parasitol Res. 2016 Jun;115(6):2299-305. doi: 10.1007/s00436-016-4974-9. Epub 2016 Mar 5.
63. Interleukin-33 promotes Th2 immune responses in infected mice with Schistosoma japonicum. Yu Y, etal., Parasitol Res. 2015 Aug;114(8):2911-8. doi: 10.1007/s00436-015-4492-1. Epub 2015 May 6.
64. Baicalin may alleviate inflammatory infiltration in dextran sodium sulfate-induced chronic ulcerative colitis via inhibiting IL-33 expression. Zhang CL, etal., Life Sci. 2017 Oct 1;186:125-132. doi: 10.1016/j.lfs.2017.08.010. Epub 2017 Aug 9.
65. IL-33/ST2 correlates with severity of haemorrhagic fever with renal syndrome and regulates the inflammatory response in Hantaan virus-infected endothelial cells. Zhang Y, etal., PLoS Negl Trop Dis. 2015 Feb 6;9(2):e0003514. doi: 10.1371/journal.pntd.0003514. eCollection 2015 Feb.
66. IL-33 Enhances Humoral Immunity Against Chronic HBV Infection Through Activating CD4(+)CXCR5(+) TFH Cells. Zhao PW, etal., J Interferon Cytokine Res. 2015 Jun;35(6):454-63. doi: 10.1089/jir.2013.0122. Epub 2015 Feb 25.
Additional References at PubMed
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PMID:22819319   PMID:22828942   PMID:22835988   PMID:22836779   PMID:22841163   PMID:22858587   PMID:22921786   PMID:23000728   PMID:23028054   PMID:23039129   PMID:23093619   PMID:23159404  
PMID:23162017   PMID:23178147   PMID:23205532   PMID:23206447   PMID:23219168   PMID:23261461   PMID:23290950   PMID:23300625   PMID:23319592   PMID:23332814   PMID:23357301   PMID:23362867  
PMID:23363980   PMID:23433789   PMID:23464866   PMID:23472165   PMID:23484079   PMID:23485578   PMID:23488689   PMID:23521712   PMID:23525523   PMID:23552178   PMID:23585867   PMID:23634226  
PMID:23641786   PMID:23656573   PMID:23725175   PMID:23759184   PMID:23764374   PMID:23775566   PMID:23794184   PMID:23805875   PMID:23817569   PMID:23855553   PMID:23910012   PMID:23935505  
PMID:23936781   PMID:23967327   PMID:23980170   PMID:23999434   PMID:24028569   PMID:24045639   PMID:24053163   PMID:24075188   PMID:24102578   PMID:24106520   PMID:24107076   PMID:24116703  
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PMID:28640516   PMID:28668506   PMID:28710436   PMID:28715472   PMID:28765940   PMID:28802100   PMID:28849217   PMID:28865413   PMID:28974430   PMID:28985997   PMID:29045903   PMID:29099095  
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Genomics

Comparative Map Data
IL33
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3896,215,149 - 6,257,983 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl96,215,786 - 6,257,983 (+)EnsemblGRCh38hg38GRCh38
GRCh3796,215,149 - 6,257,983 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3696,231,678 - 6,247,982 (+)NCBINCBI36Build 36hg18NCBI36
Build 3496,231,677 - 6,247,982NCBI
Celera96,179,137 - 6,195,439 (+)NCBICelera
Cytogenetic Map9p24.1NCBI
HuRef96,171,374 - 6,213,493 (+)NCBIHuRef
CHM1_196,216,394 - 6,258,768 (+)NCBICHM1_1
T2T-CHM13v2.096,220,289 - 6,263,045 (+)NCBIT2T-CHM13v2.0
Il33
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391929,902,513 - 29,938,118 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1929,902,514 - 29,938,118 (+)EnsemblGRCm39 Ensembl
GRCm381929,925,113 - 29,960,718 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1929,925,114 - 29,960,718 (+)EnsemblGRCm38mm10GRCm38
MGSCv371929,999,604 - 30,035,205 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361930,015,647 - 30,026,715 (+)NCBIMGSCv36mm8
Celera1930,700,532 - 30,736,141 (+)NCBICelera
Cytogenetic Map19C1NCBI
cM Map1924.56NCBI
Il33
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81237,115,478 - 237,149,897 (+)NCBIGRCr8
mRatBN7.21227,701,964 - 227,736,374 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1227,721,435 - 227,736,373 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1236,123,222 - 236,138,166 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01243,052,907 - 243,067,851 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01235,869,667 - 235,884,579 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01248,112,611 - 248,147,030 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1248,132,090 - 248,147,029 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01255,382,760 - 255,397,661 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41233,670,801 - 233,685,798 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11233,834,823 - 233,849,820 (+)NCBI
Celera1224,871,607 - 224,886,518 (+)NCBICelera
Cytogenetic Map1q52NCBI
Il33
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543410,171,812 - 10,188,948 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543410,145,449 - 10,187,595 (+)NCBIChiLan1.0ChiLan1.0
IL33
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v211118,322,326 - 118,364,362 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan19118,328,274 - 118,370,309 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v096,027,014 - 6,069,540 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.196,208,479 - 6,250,433 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl96,234,178 - 6,248,624 (+)Ensemblpanpan1.1panPan2
IL33
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11127,219,878 - 27,256,723 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1127,219,878 - 27,256,721 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1125,988,860 - 26,025,714 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01128,069,676 - 28,106,564 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1128,069,663 - 28,108,194 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11126,788,250 - 26,825,127 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01126,610,673 - 26,647,647 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01127,281,817 - 27,318,668 (+)NCBIUU_Cfam_GSD_1.0
Il33
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947142,170,523 - 142,338,788 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936539623,248 - 791,470 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936539763,755 - 791,461 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IL33
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1215,899,436 - 215,941,840 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11215,899,830 - 215,941,944 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21241,454,091 - 241,496,130 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IL33
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11273,235,585 - 73,283,665 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1273,237,406 - 73,252,436 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603861,612,048 - 61,659,928 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Il33
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473610,764,486 - 10,784,864 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473610,733,944 - 10,786,188 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IL33
25 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13974100)x1 copy number loss See cases [RCV000050831] Chr9:204193..13974100 [GRCh38]
Chr9:204193..13974099 [GRCh37]
Chr9:194193..13964099 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-23(chr9:1592306-12387899)x3 copy number gain See cases [RCV000050612] Chr9:1592306..12387899 [GRCh38]
Chr9:1592306..12387899 [GRCh37]
Chr9:1582306..12377899 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-23(chr9:211087-13754567)x1 copy number loss See cases [RCV000052856] Chr9:211087..13754567 [GRCh38]
Chr9:211087..13754566 [GRCh37]
Chr9:201087..13744566 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1 copy number loss See cases [RCV000052860] Chr9:220253..18073359 [GRCh38]
Chr9:220253..18073357 [GRCh37]
Chr9:210253..18063357 [NCBI36]
Chr9:9p24.3-22.2
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-6968724)x1 copy number loss See cases [RCV000052861] Chr9:220253..6968724 [GRCh38]
Chr9:220253..6968724 [GRCh37]
Chr9:210253..6958724 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:1242978-18957216)x1 copy number loss See cases [RCV000052863] Chr9:1242978..18957216 [GRCh38]
Chr9:1242978..18957214 [GRCh37]
Chr9:1232978..18947214 [NCBI36]
Chr9:9p24.3-22.1
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3 copy number gain See cases [RCV000053704] Chr9:204193..22086858 [GRCh38]
Chr9:204193..22086857 [GRCh37]
Chr9:194193..22076857 [NCBI36]
Chr9:9p24.3-21.3
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 copy number gain See cases [RCV000053707] Chr9:204193..33284638 [GRCh38]
Chr9:204193..33284636 [GRCh37]
Chr9:194193..33274636 [NCBI36]
Chr9:9p24.3-13.3
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10340779)x1 copy number loss See cases [RCV000054331] Chr9:204193..10340779 [GRCh38]
Chr9:204193..10340779 [GRCh37]
Chr9:194193..10330779 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-12302772)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|See cases [RCV000054332] Chr9:204193..12302772 [GRCh38]
Chr9:204193..12302772 [GRCh37]
Chr9:194193..12292772 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13276053)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|See cases [RCV000054334] Chr9:204193..13276053 [GRCh38]
Chr9:204193..13276052 [GRCh37]
Chr9:194193..13266052 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-9363321)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|See cases [RCV000054336] Chr9:204193..9363321 [GRCh38]
Chr9:204193..9363321 [GRCh37]
Chr9:194193..9353321 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13454719)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|See cases [RCV000054338] Chr9:204193..13454719 [GRCh38]
Chr9:204193..13454718 [GRCh37]
Chr9:194193..13444718 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11867480)x1 copy number loss See cases [RCV000054341] Chr9:211086..11867480 [GRCh38]
Chr9:211086..11867480 [GRCh37]
Chr9:201086..11857480 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1 copy number loss See cases [RCV000054315] Chr9:111216..14650762 [GRCh38]
Chr9:111216..14650760 [GRCh37]
Chr9:101216..14640760 [NCBI36]
Chr9:9p24.3-22.3
pathogenic
GRCh38/hg38 9p24.3-23(chr9:195399-11081440)x1 copy number loss See cases [RCV000054316] Chr9:195399..11081440 [GRCh38]
Chr9:199707..11081440 [GRCh37]
Chr9:182102..11071440 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-13753101)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|See cases [RCV000054317] Chr9:203993..13753101 [GRCh38]
Chr9:203993..13753100 [GRCh37]
Chr9:193993..13743100 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-12621562)x1 copy number loss See cases [RCV000054327] Chr9:203993..12621562 [GRCh38]
Chr9:203993..12621562 [GRCh37]
Chr9:193993..12611562 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_033439.4(IL33):c.712G>A (p.Val238Met) single nucleotide variant Malignant tumor of prostate [RCV000149325] Chr9:6256067 [GRCh38]
Chr9:6256067 [GRCh37]
Chr9:9p24.1
uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10473327)x1 copy number loss See cases [RCV000133873] Chr9:204193..10473327 [GRCh38]
Chr9:204193..10473327 [GRCh37]
Chr9:194193..10463327 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1 copy number loss See cases [RCV000133825] Chr9:204193..18073359 [GRCh38]
Chr9:204193..18073357 [GRCh37]
Chr9:194193..18063357 [NCBI36]
Chr9:9p24.3-22.2
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10164955)x1 copy number loss See cases [RCV000133728] Chr9:204193..10164955 [GRCh38]
Chr9:204193..10164955 [GRCh37]
Chr9:194193..10154955 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3 copy number gain See cases [RCV000134037] Chr9:220257..29424848 [GRCh38]
Chr9:220257..29424846 [GRCh37]
Chr9:210257..29414846 [NCBI36]
Chr9:9p24.3-21.1
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204090-13146846)x1 copy number loss See cases [RCV000134126] Chr9:204090..13146846 [GRCh38]
Chr9:204090..13146845 [GRCh37]
Chr9:194090..13136845 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-11277770)x1 copy number loss See cases [RCV000133923] Chr9:204193..11277770 [GRCh38]
Chr9:204193..11277770 [GRCh37]
Chr9:194193..11267770 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1 copy number loss See cases [RCV000135660] Chr9:220253..18708805 [GRCh38]
Chr9:220253..18708803 [GRCh37]
Chr9:210253..18698803 [NCBI36]
Chr9:9p24.3-22.1
pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1 copy number loss See cases [RCV000135694] Chr9:204104..18882281 [GRCh38]
Chr9:204104..18882279 [GRCh37]
Chr9:194104..18872279 [NCBI36]
Chr9:9p24.3-22.1
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-8866675)x1 copy number loss See cases [RCV000135434] Chr9:220253..8866675 [GRCh38]
Chr9:220253..8866675 [GRCh37]
Chr9:210253..8856675 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204193-6968724)x1 copy number loss See cases [RCV000135544] Chr9:204193..6968724 [GRCh38]
Chr9:204193..6968724 [GRCh37]
Chr9:194193..6958724 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10852686)x1 copy number loss See cases [RCV000135563] Chr9:204193..10852686 [GRCh38]
Chr9:204193..10852686 [GRCh37]
Chr9:194193..10842686 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12
pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1 copy number loss See cases [RCV000135968] Chr9:204193..16897580 [GRCh38]
Chr9:204193..16897578 [GRCh37]
Chr9:194193..16887578 [NCBI36]
Chr9:9p24.3-22.2
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11298187)x1 copy number loss See cases [RCV000135935] Chr9:204104..11298187 [GRCh38]
Chr9:204104..11298187 [GRCh37]
Chr9:194104..11288187 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13
pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1 copy number loss See cases [RCV000136859] Chr9:214367..16307944 [GRCh38]
Chr9:214367..16307942 [GRCh37]
Chr9:204367..16297942 [NCBI36]
Chr9:9p24.3-22.3
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-11435662)x1 copy number loss See cases [RCV000136966] Chr9:204193..11435662 [GRCh38]
Chr9:204193..11435662 [GRCh37]
Chr9:194193..11425662 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.2-24.1(chr9:4152060-8518353)x1 copy number loss See cases [RCV000136787] Chr9:4152060..8518353 [GRCh38]
Chr9:4152060..8518353 [GRCh37]
Chr9:4142060..8508353 [NCBI36]
Chr9:9p24.2-24.1
pathogenic
GRCh38/hg38 9p24.2-23(chr9:3591159-9361786)x3 copy number gain See cases [RCV000136729] Chr9:3591159..9361786 [GRCh38]
Chr9:3591159..9361786 [GRCh37]
Chr9:3581159..9351786 [NCBI36]
Chr9:9p24.2-23
pathogenic
GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3 copy number gain See cases [RCV000136680] Chr9:4661872..27661572 [GRCh38]
Chr9:4661872..27661570 [GRCh37]
Chr9:4651872..27651570 [NCBI36]
Chr9:9p24.1-21.2
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-14182668)x1 copy number loss See cases [RCV000137669] Chr9:204104..14182668 [GRCh38]
Chr9:204104..14182667 [GRCh37]
Chr9:194104..14172667 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-8266492)x1 copy number loss See cases [RCV000137455] Chr9:204104..8266492 [GRCh38]
Chr9:204104..8266492 [GRCh37]
Chr9:194104..8256492 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11610300)x3 copy number gain See cases [RCV000137382] Chr9:204104..11610300 [GRCh38]
Chr9:204104..11610300 [GRCh37]
Chr9:194104..11600300 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-10023901)x1 copy number loss See cases [RCV000138119] Chr9:204104..10023901 [GRCh38]
Chr9:204104..10023901 [GRCh37]
Chr9:194104..10013901 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-7133443)x1 copy number loss See cases [RCV000137745] Chr9:204104..7133443 [GRCh38]
Chr9:204104..7133443 [GRCh37]
Chr9:194104..7123443 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3 copy number gain See cases [RCV000138499] Chr9:459131..24207894 [GRCh38]
Chr9:459131..24207892 [GRCh37]
Chr9:449131..24197892 [NCBI36]
Chr9:9p24.3-21.3
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3
pathogenic|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.1(chr9:6055497-6322471)x1 copy number loss See cases [RCV000139041] Chr9:6055497..6322471 [GRCh38]
Chr9:6055497..6322471 [GRCh37]
Chr9:6045497..6312471 [NCBI36]
Chr9:9p24.1
likely benign
GRCh38/hg38 9p24.3-24.1(chr9:204104-6322471)x1 copy number loss See cases [RCV000140410] Chr9:204104..6322471 [GRCh38]
Chr9:204104..6322471 [GRCh37]
Chr9:194104..6312471 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-23(chr9:204090-9282864)x1 copy number loss See cases [RCV000139566] Chr9:204090..9282864 [GRCh38]
Chr9:204090..9282864 [GRCh37]
Chr9:194090..9272864 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 copy number gain See cases [RCV000139621] Chr9:204104..27963369 [GRCh38]
Chr9:204104..27963367 [GRCh37]
Chr9:194104..27953367 [NCBI36]
Chr9:9p24.3-21.2
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:185579-7635806)x1 copy number loss See cases [RCV000141407] Chr9:185579..7635806 [GRCh38]
Chr9:185579..7635806 [GRCh37]
Chr9:175579..7625806 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11457340)x1 copy number loss See cases [RCV000141408] Chr9:211086..11457340 [GRCh38]
Chr9:211086..11457340 [GRCh37]
Chr9:201086..11447340 [NCBI36]
Chr9:9p24.3-23
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:211086-7444397)x1 copy number loss See cases [RCV000140601] Chr9:211086..7444397 [GRCh38]
Chr9:211086..7444397 [GRCh37]
Chr9:201086..7434397 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4 copy number gain See cases [RCV000141662] Chr9:203861..31423873 [GRCh38]
Chr9:203861..31423871 [GRCh37]
Chr9:193861..31413871 [NCBI36]
Chr9:9p24.3-21.1
pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1 copy number loss See cases [RCV000141442] Chr9:322690..16401656 [GRCh38]
Chr9:322690..16401654 [GRCh37]
Chr9:312690..16391654 [NCBI36]
Chr9:9p24.3-22.3
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:203861-8172957)x1 copy number loss See cases [RCV000142074] Chr9:203861..8172957 [GRCh38]
Chr9:203861..8172957 [GRCh37]
Chr9:193861..8162957 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1 copy number loss See cases [RCV000142964] Chr9:204090..15260600 [GRCh38]
Chr9:204090..15260598 [GRCh37]
Chr9:194090..15250598 [NCBI36]
Chr9:9p24.3-22.3
pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-7733826)x1 copy number loss See cases [RCV000142688] Chr9:220253..7733826 [GRCh38]
Chr9:220253..7733826 [GRCh37]
Chr9:210253..7723826 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-23(chr9:13997-11376705)x1 copy number loss See cases [RCV000239799] Chr9:13997..11376705 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3 copy number gain See cases [RCV000240225] Chr9:213161..19450250 [GRCh37]
Chr9:9p24.3-22.1
pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-12570076) copy number loss Chromosome 9p deletion syndrome [RCV002280768] Chr9:203861..12570076 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3 copy number gain MISSED ABORTION [RCV002282974] Chr9:203861..35903398 [GRCh37]
Chr9:9p24.3-13.3
pathogenic
GRCh37/hg19 9p24.1(chr9:5900207-6501065)x3 copy number gain not provided [RCV000416040] Chr9:5900207..6501065 [GRCh37]
Chr9:9p24.1
uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)x1 copy number loss See cases [RCV000446597] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16925108)x1 copy number loss See cases [RCV000447415] Chr9:203861..16925108 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268)x1 copy number loss See cases [RCV000447144] Chr9:203861..14322268 [GRCh37]
Chr9:9p24.3-22.3
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16670878)x1 copy number loss See cases [RCV000446566] Chr9:203861..16670878 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)x1 copy number loss See cases [RCV000445963] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1 copy number loss See cases [RCV000445998] Chr9:213161..17496750 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11414732)x1 copy number loss See cases [RCV000448147] Chr9:203861..11414732 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462)x1 copy number loss See cases [RCV000448304] Chr9:203861..8735462 [GRCh37]
Chr9:9p24.3-24.1
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17125893)x1 copy number loss See cases [RCV000512122] Chr9:203861..17125893 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.2-22.3(chr9:4581369-14848338)x1 copy number loss See cases [RCV000510332] Chr9:4581369..14848338 [GRCh37]
Chr9:9p24.2-22.3
pathogenic
GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3 copy number gain See cases [RCV000510425] Chr9:5900425..30008330 [GRCh37]
Chr9:9p24.1-21.1
pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-13486759)x1 copy number loss See cases [RCV000511432] Chr9:203861..13486759 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17655298)x1 copy number loss See cases [RCV000510944] Chr9:203861..17655298 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-10700288)x3 copy number gain See cases [RCV000510843] Chr9:203861..10700288 [GRCh37]
Chr9:9p24.3-23
likely pathogenic
NM_033439.4(IL33):c.244C>T (p.Leu82Phe) single nucleotide variant not specified [RCV004294312] Chr9:6251166 [GRCh38]
Chr9:6251166 [GRCh37]
Chr9:9p24.1
likely benign
NM_033439.4(IL33):c.610G>A (p.Glu204Lys) single nucleotide variant not specified [RCV004315358] Chr9:6254551 [GRCh38]
Chr9:6254551 [GRCh37]
Chr9:9p24.1
uncertain significance
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2
likely pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9306658)x1 copy number loss not provided [RCV000683164] Chr9:203861..9306658 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9924905)x1 copy number loss not provided [RCV000683166] Chr9:203861..9924905 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.1(chr9:6145229-6235831)x1 copy number loss not provided [RCV000683069] Chr9:6145229..6235831 [GRCh37]
Chr9:9p24.1
likely benign
GRCh37/hg19 9p24.3-24.1(chr9:203861-7007586)x1 copy number loss not provided [RCV000683162] Chr9:203861..7007586 [GRCh37]
Chr9:9p24.3-24.1
pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11271239)x1 copy number loss not provided [RCV000683167] Chr9:203861..11271239 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14744606)x1 copy number loss not provided [RCV000683168] Chr9:203861..14744606 [GRCh37]
Chr9:9p24.3-22.3
pathogenic
GRCh37/hg19 9p24.1(chr9:6103626-6633240)x1 copy number loss not provided [RCV000683127] Chr9:6103626..6633240 [GRCh37]
Chr9:9p24.1
uncertain significance
GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3 copy number gain not provided [RCV000683170] Chr9:203861..20653468 [GRCh37]
Chr9:9p24.3-21.3
pathogenic
GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3 copy number gain not provided [RCV000683171] Chr9:203861..26397133 [GRCh37]
Chr9:9p24.3-21.2
pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-12532584)x1 copy number loss not provided [RCV000748060] Chr9:46587..12532584 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-13708607)x1 copy number loss not provided [RCV000748061] Chr9:46587..13708607 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:46587-22012051)x3 copy number gain not provided [RCV000748062] Chr9:46587..22012051 [GRCh37]
Chr9:9p24.3-21.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.2-21.3(chr9:4420767-22195820)x3 copy number gain not provided [RCV000748122] Chr9:4420767..22195820 [GRCh37]
Chr9:9p24.2-21.3
pathogenic
NM_033439.4(IL33):c.91+1165C>T single nucleotide variant not provided [RCV001707236] Chr9:6242950 [GRCh38]
Chr9:6242950 [GRCh37]
Chr9:9p24.1
benign
NM_033439.4(IL33):c.150C>A (p.Gly50=) single nucleotide variant not provided [RCV000970400] Chr9:6250532 [GRCh38]
Chr9:6250532 [GRCh37]
Chr9:9p24.1
benign
GRCh37/hg19 9p24.1(chr9:5849389-6253571)x1 copy number loss not provided [RCV001006197] Chr9:5849389..6253571 [GRCh37]
Chr9:9p24.1
uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-10283912)x1 copy number loss See cases [RCV002285070] Chr9:203861..10283912 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1 copy number loss not provided [RCV001006163] Chr9:203861..17789410 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-10666419)x1 copy number loss not provided [RCV001006164] Chr9:203861..10666419 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-14080419)x1 copy number loss not provided [RCV001006166] Chr9:203861..14080419 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11028975)x1 copy number loss not provided [RCV000848089] Chr9:203861..11028975 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
NM_033439.4(IL33):c.457G>T (p.Asp153Tyr) single nucleotide variant not provided [RCV000965097] Chr9:6252979 [GRCh38]
Chr9:6252979 [GRCh37]
Chr9:9p24.1
benign
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3 copy number gain not provided [RCV000845664] Chr9:203861..19448473 [GRCh37]
Chr9:9p24.3-22.1
pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11033228)x1 copy number loss not provided [RCV000848063] Chr9:203861..11033228 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
NM_033439.4(IL33):c.603C>G (p.His201Gln) single nucleotide variant not provided [RCV000975205] Chr9:6254544 [GRCh38]
Chr9:6254544 [GRCh37]
Chr9:9p24.1
benign
NM_033439.4(IL33):c.273G>C (p.Val91=) single nucleotide variant not provided [RCV000901390] Chr9:6251195 [GRCh38]
Chr9:6251195 [GRCh37]
Chr9:9p24.1
benign
NM_033439.4(IL33):c.789C>G (p.Ile263Met) single nucleotide variant not provided [RCV000956701] Chr9:6256144 [GRCh38]
Chr9:6256144 [GRCh37]
Chr9:9p24.1
benign
GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1 copy number loss Chromosome 9p deletion syndrome [RCV001263225] Chr9:204193..18073357 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-14103730)x1 copy number loss not provided [RCV001006165] Chr9:203861..14103730 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812) copy number loss Trigonocephaly [RCV001352660] Chr9:204193..18654812 [GRCh37]
Chr9:9p24.3-22.1
pathogenic
GRCh37/hg19 9p24.2-24.1(chr9:2854435-6937677) copy number gain Global developmental delay [RCV001352644] Chr9:2854435..6937677 [GRCh37]
Chr9:9p24.2-24.1
pathogenic
Single allele deletion Chromosome 9p deletion syndrome [RCV002247737] Chr9:203987..11602476 [GRCh38]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9631665) copy number loss not specified [RCV002053811] Chr9:203861..9631665 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14694074) copy number loss not specified [RCV002053815] Chr9:203861..14694074 [GRCh37]
Chr9:9p24.3-22.3
pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268) copy number loss not specified [RCV002053814] Chr9:203861..14322268 [GRCh37]
Chr9:9p24.3-22.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-7759331) copy number loss not specified [RCV002053809] Chr9:203861..7759331 [GRCh37]
Chr9:9p24.3-24.1
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670) copy number gain not specified [RCV002053827] Chr9:676264..33743670 [GRCh37]
Chr9:9p24.3-13.3
pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11414732) copy number loss not specified [RCV002053812] Chr9:203861..11414732 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277) copy number loss not specified [RCV002053816] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907) copy number loss not specified [RCV002053817] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462) copy number loss not specified [RCV002053810] Chr9:203861..8735462 [GRCh37]
Chr9:9p24.3-24.1
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1
likely pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-12127088) copy number loss Chromosome 9p deletion syndrome [RCV002280766] Chr9:203861..12127088 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.1-22.1(chr9:4992582-19322101) copy number loss Chromosome 9p deletion syndrome [RCV002280769] Chr9:4992582..19322101 [GRCh37]
Chr9:9p24.1-22.1
pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11
pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-7959823) copy number loss Chromosome 9p deletion syndrome [RCV002280770] Chr9:203861..7959823 [GRCh37]
Chr9:9p24.3-24.1
pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15048247)x1 copy number loss See cases [RCV002287555] Chr9:203861..15048247 [GRCh37]
Chr9:9p24.3-22.3
pathogenic
GRCh37/hg19 9p24.1(chr9:6026387-6347728)x1 copy number loss not provided [RCV002473546] Chr9:6026387..6347728 [GRCh37]
Chr9:9p24.1
uncertain significance
NM_033439.4(IL33):c.10A>G (p.Lys4Glu) single nucleotide variant not specified [RCV004237667] Chr9:6241704 [GRCh38]
Chr9:6241704 [GRCh37]
Chr9:9p24.1
uncertain significance
NM_033439.4(IL33):c.571G>C (p.Asp191His) single nucleotide variant not specified [RCV004126513] Chr9:6254512 [GRCh38]
Chr9:6254512 [GRCh37]
Chr9:9p24.1
uncertain significance
NM_033439.4(IL33):c.164A>G (p.Lys55Arg) single nucleotide variant not specified [RCV004191967] Chr9:6250546 [GRCh38]
Chr9:6250546 [GRCh37]
Chr9:9p24.1
uncertain significance
NM_033439.4(IL33):c.296C>T (p.Ser99Leu) single nucleotide variant not specified [RCV004166602] Chr9:6251218 [GRCh38]
Chr9:6251218 [GRCh37]
Chr9:9p24.1
uncertain significance
NM_033439.4(IL33):c.43G>A (p.Ala15Thr) single nucleotide variant not specified [RCV004228445] Chr9:6241737 [GRCh38]
Chr9:6241737 [GRCh37]
Chr9:9p24.1
uncertain significance
NM_033439.4(IL33):c.757G>C (p.Asp253His) single nucleotide variant not specified [RCV004277459] Chr9:6256112 [GRCh38]
Chr9:6256112 [GRCh37]
Chr9:9p24.1
uncertain significance
NM_033439.4(IL33):c.142C>T (p.Arg48Cys) single nucleotide variant not specified [RCV004253947] Chr9:6250524 [GRCh38]
Chr9:6250524 [GRCh37]
Chr9:9p24.1
uncertain significance
Single allele deletion not provided [RCV003448696] Chr9:204064..16456192 [GRCh37]
Chr9:9p24.3-22.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 copy number gain not provided [RCV003484765] Chr9:1475882..38771831 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203862-8548307)x1 copy number loss not specified [RCV003986852] Chr9:203862..8548307 [GRCh37]
Chr9:9p24.3-24.1
pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1 copy number loss not specified [RCV003986799] Chr9:203861..19302836 [GRCh37]
Chr9:9p24.3-22.1
pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1 copy number loss not specified [RCV003986809] Chr9:203861..15508556 [GRCh37]
Chr9:9p24.3-22.3
pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9128400)x1 copy number loss not specified [RCV003986818] Chr9:203861..9128400 [GRCh37]
Chr9:9p24.3-23
pathogenic
NM_033439.4(IL33):c.266C>T (p.Ser89Phe) single nucleotide variant not specified [RCV004405265] Chr9:6251188 [GRCh38]
Chr9:6251188 [GRCh37]
Chr9:9p24.1
uncertain significance
NM_033439.4(IL33):c.471T>G (p.Asp157Glu) single nucleotide variant not specified [RCV004405266] Chr9:6253553 [GRCh38]
Chr9:6253553 [GRCh37]
Chr9:9p24.1
uncertain significance
NM_033439.4(IL33):c.478T>A (p.Leu160Ile) single nucleotide variant not specified [RCV004405267] Chr9:6253560 [GRCh38]
Chr9:6253560 [GRCh37]
Chr9:9p24.1
uncertain significance
NM_033439.4(IL33):c.47A>G (p.Lys16Arg) single nucleotide variant not specified [RCV004405268] Chr9:6241741 [GRCh38]
Chr9:6241741 [GRCh37]
Chr9:9p24.1
uncertain significance
NM_033439.4(IL33):c.536G>C (p.Gly179Ala) single nucleotide variant not specified [RCV004405269] Chr9:6254477 [GRCh38]
Chr9:6254477 [GRCh37]
Chr9:9p24.1
uncertain significance
NM_033439.4(IL33):c.719T>C (p.Ile240Thr) single nucleotide variant not specified [RCV004628061] Chr9:6256074 [GRCh38]
Chr9:6256074 [GRCh37]
Chr9:9p24.1
uncertain significance
NM_033439.4(IL33):c.299G>A (p.Gly100Glu) single nucleotide variant not specified [RCV004628062] Chr9:6251221 [GRCh38]
Chr9:6251221 [GRCh37]
Chr9:9p24.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1071
Count of miRNA genes:513
Interacting mature miRNAs:554
Transcripts:ENST00000381434, ENST00000417746, ENST00000456383, ENST00000463336
Prediction methods:Microtar, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407141254GWAS790230_HAcute kidney injury QTL GWAS790230 (human)0.000008Acute kidney injury962262896226290Human
406904583GWAS553559_Hsmall cell lung carcinoma QTL GWAS553559 (human)0.0000004small cell lung carcinoma962274186227419Human
407257997GWAS906973_Hasthma QTL GWAS906973 (human)4e-18asthma962526906252691Human
407141835GWAS790811_Hchildhood onset asthma QTL GWAS790811 (human)3e-08childhood onset asthma962312396231240Human
2302773MAMTS18_HMammary tumor susceptibility QTL 18 (human)0.039Mammary tumor susceptibility9528914931289149Human
407036628GWAS685604_Hadult onset asthma QTL GWAS685604 (human)2e-09adult onset asthma962559676255968Human
406943702GWAS592678_Heosinophil percentage of leukocytes QTL GWAS592678 (human)2e-58eosinophil percentage of leukocytesblood eosinophil count to total leukocyte count ratio (CMO:0000369)962526906252691Human
2315898GLUCO191_HGlucose level QTL 191 (human)1.83Glucose level9528914931289149Human
2293433PRSTS223_HProstate tumor susceptibility QTL 223 (human)1.6Prostate tumor susceptibility9528914931289149Human
406925658GWAS574634_Hatopic asthma QTL GWAS574634 (human)1e-12atopic asthma962526906252691Human
407152223GWAS801199_Hchildhood onset asthma QTL GWAS801199 (human)6e-26childhood onset asthma962221496222150Human
407105375GWAS754351_Hneutrophil percentage of leukocytes QTL GWAS754351 (human)2e-10neutrophil percentage of leukocytesblood neutrophil count to total leukocyte count ratio (CMO:0000370)962189606218961Human
406935326GWAS584302_Hserum metabolite measurement QTL GWAS584302 (human)3e-18serum metabolite measurement962191766219177Human
406925984GWAS574960_Hatopic asthma QTL GWAS574960 (human)6e-10atopic asthma962212466221247Human
407137061GWAS786037_Hasthma, allergic disease QTL GWAS786037 (human)2e-08asthma, allergic disease962330826233083Human
407022496GWAS671472_Hendometriosis QTL GWAS671472 (human)0.0000009endometriosis962535716253572Human
407152224GWAS801200_Hchildhood onset asthma QTL GWAS801200 (human)1e-10childhood onset asthma962559676255968Human
407152226GWAS801202_Hchildhood onset asthma QTL GWAS801202 (human)6e-14childhood onset asthma962364076236408Human
407277728GWAS926704_Hasthma QTL GWAS926704 (human)7e-17asthma962559676255968Human
1357299AASTH47_HAllergic/atopic asthma related QTL 47 (human)0.00028Reversible airflow obstruction9528914931289149Human
406927720GWAS576696_Hserum metabolite measurement QTL GWAS576696 (human)4e-13serum metabolite measurement962191766219177Human
407057073GWAS706049_Heosinophil count QTL GWAS706049 (human)1e-56eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)962526906252691Human
1643245BW137_HBody weight QTL 137 (human)2.28Body weight9528914931289149Human
2293400PRSTS224_HProstate tumor susceptibility QTL 224 (human)1.62Prostate tumor susceptibility9528914931289149Human
407149433GWAS798409_Hasthma QTL GWAS798409 (human)4e-11asthma962559676255968Human
407342393GWAS991369_Herythrocyte count QTL GWAS991369 (human)5e-10erythrocyte countred blood cell count (CMO:0000025)962332216233222Human

Markers in Region
RH47407  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3796,257,746 - 6,257,901UniSTSGRCh37
Build 3696,247,746 - 6,247,901RGDNCBI36
Celera96,195,203 - 6,195,358RGD
Cytogenetic Map9p24.1UniSTS
HuRef96,213,256 - 6,213,411UniSTS
GeneMap99-GB4 RH Map926.28UniSTS
NCBI RH Map968.3UniSTS
RH46528  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3796,251,802 - 6,251,974UniSTSGRCh37
Build 3696,241,802 - 6,241,974RGDNCBI36
Celera96,189,259 - 6,189,431RGD
Cytogenetic Map9p24.1UniSTS
HuRef96,207,312 - 6,207,484UniSTS
GeneMap99-GB4 RH Map927.18UniSTS
NCBI RH Map967.0UniSTS
D9S2078  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3796,257,735 - 6,257,866UniSTSGRCh37
Build 3696,247,735 - 6,247,866RGDNCBI36
Celera96,195,192 - 6,195,323RGD
Cytogenetic Map9p24.1UniSTS
HuRef96,213,245 - 6,213,376UniSTS
GeneMap99-G3 RH Map9251.0UniSTS
SHGC-57740  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3796,256,496 - 6,256,759UniSTSGRCh37
Build 3696,246,496 - 6,246,759RGDNCBI36
Celera96,193,953 - 6,194,216RGD
Cytogenetic Map9p24.1UniSTS
HuRef96,212,006 - 6,212,269UniSTS
TNG Radiation Hybrid Map92903.0UniSTS


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 2401 2788 2234 4810 1709 2202 4 612 1291 449 2139 6592 5820 24 3696 1 819 1690 1488 172 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001314044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001314045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001314046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001314047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001314048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB024518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI610794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL080211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY905581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ878541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR407619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA439244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA713547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA719342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB199599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB266668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB477860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ641439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX463463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX463464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000381434   ⟹   ENSP00000370842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl96,241,682 - 6,257,983 (+)Ensembl
Ensembl Acc Id: ENST00000417746   ⟹   ENSP00000394039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl96,215,786 - 6,257,982 (+)Ensembl
Ensembl Acc Id: ENST00000456383   ⟹   ENSP00000414238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl96,241,695 - 6,257,982 (+)Ensembl
Ensembl Acc Id: ENST00000463336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl96,241,693 - 6,242,734 (+)Ensembl
Ensembl Acc Id: ENST00000611532   ⟹   ENSP00000478858
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl96,241,680 - 6,256,223 (+)Ensembl
Ensembl Acc Id: ENST00000682010   ⟹   ENSP00000507310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl96,215,807 - 6,257,983 (+)Ensembl
RefSeq Acc Id: NM_001199640   ⟹   NP_001186569
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3896,215,807 - 6,257,983 (+)NCBI
GRCh3796,215,149 - 6,257,983 (+)NCBI
HuRef96,171,374 - 6,213,493 (+)ENTREZGENE
CHM1_196,216,394 - 6,258,768 (+)NCBI
T2T-CHM13v2.096,220,947 - 6,263,045 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001199641   ⟹   NP_001186570
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3896,215,807 - 6,257,983 (+)NCBI
GRCh3796,215,149 - 6,257,983 (+)NCBI
HuRef96,171,374 - 6,213,493 (+)ENTREZGENE
CHM1_196,216,394 - 6,258,768 (+)NCBI
T2T-CHM13v2.096,220,947 - 6,263,045 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001314044   ⟹   NP_001300973
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3896,215,149 - 6,257,983 (+)NCBI
CHM1_196,215,757 - 6,258,768 (+)NCBI
T2T-CHM13v2.096,220,289 - 6,263,045 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001314045   ⟹   NP_001300974
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3896,237,081 - 6,257,983 (+)NCBI
CHM1_196,237,873 - 6,258,768 (+)NCBI
T2T-CHM13v2.096,242,145 - 6,263,045 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001314046   ⟹   NP_001300975
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3896,215,807 - 6,257,983 (+)NCBI
CHM1_196,216,394 - 6,258,768 (+)NCBI
T2T-CHM13v2.096,220,947 - 6,263,045 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001314047   ⟹   NP_001300976
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3896,215,149 - 6,257,983 (+)NCBI
CHM1_196,215,757 - 6,258,768 (+)NCBI
T2T-CHM13v2.096,220,289 - 6,263,045 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001314048   ⟹   NP_001300977
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3896,215,807 - 6,257,983 (+)NCBI
CHM1_196,216,394 - 6,258,768 (+)NCBI
T2T-CHM13v2.096,220,947 - 6,263,045 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353802   ⟹   NP_001340731
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3896,248,471 - 6,257,983 (+)NCBI
T2T-CHM13v2.096,253,533 - 6,263,045 (+)NCBI
Sequence:
RefSeq Acc Id: NM_033439   ⟹   NP_254274
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3896,215,807 - 6,257,983 (+)NCBI
GRCh3796,215,149 - 6,257,983 (+)NCBI
Build 3696,231,678 - 6,247,982 (+)NCBI Archive
HuRef96,171,374 - 6,213,493 (+)ENTREZGENE
CHM1_196,216,394 - 6,258,768 (+)NCBI
T2T-CHM13v2.096,220,947 - 6,263,045 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017015285   ⟹   XP_016870774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3896,215,149 - 6,257,983 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047424060   ⟹   XP_047280016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3896,215,149 - 6,257,983 (+)NCBI
RefSeq Acc Id: XM_047424061   ⟹   XP_047280017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3896,215,149 - 6,257,983 (+)NCBI
RefSeq Acc Id: XM_047424062   ⟹   XP_047280018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3896,215,149 - 6,257,983 (+)NCBI
RefSeq Acc Id: XM_047424063   ⟹   XP_047280019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3896,215,149 - 6,257,983 (+)NCBI
RefSeq Acc Id: XM_047424064   ⟹   XP_047280020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3896,215,149 - 6,257,983 (+)NCBI
RefSeq Acc Id: XM_054364148   ⟹   XP_054220123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.096,220,289 - 6,263,045 (+)NCBI
RefSeq Acc Id: XM_054364149   ⟹   XP_054220124
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.096,220,289 - 6,263,045 (+)NCBI
RefSeq Acc Id: XM_054364150   ⟹   XP_054220125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.096,220,289 - 6,263,045 (+)NCBI
RefSeq Acc Id: XM_054364151   ⟹   XP_054220126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.096,220,289 - 6,263,045 (+)NCBI
RefSeq Acc Id: XM_054364152   ⟹   XP_054220127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.096,220,289 - 6,263,045 (+)NCBI
RefSeq Acc Id: XM_054364153   ⟹   XP_054220128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.096,220,289 - 6,263,045 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001186569 (Get FASTA)   NCBI Sequence Viewer  
  NP_001186570 (Get FASTA)   NCBI Sequence Viewer  
  NP_001300973 (Get FASTA)   NCBI Sequence Viewer  
  NP_001300974 (Get FASTA)   NCBI Sequence Viewer  
  NP_001300975 (Get FASTA)   NCBI Sequence Viewer  
  NP_001300976 (Get FASTA)   NCBI Sequence Viewer  
  NP_001300977 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340731 (Get FASTA)   NCBI Sequence Viewer  
  NP_254274 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870774 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280016 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280017 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280018 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280019 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280020 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220123 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220124 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220125 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220126 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220127 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220128 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH47085 (Get FASTA)   NCBI Sequence Viewer  
  AAX86998 (Get FASTA)   NCBI Sequence Viewer  
  ADR77828 (Get FASTA)   NCBI Sequence Viewer  
  AOZ26494 (Get FASTA)   NCBI Sequence Viewer  
  AOZ26495 (Get FASTA)   NCBI Sequence Viewer  
  BAA75892 (Get FASTA)   NCBI Sequence Viewer  
  BAG36208 (Get FASTA)   NCBI Sequence Viewer  
  BAG58697 (Get FASTA)   NCBI Sequence Viewer  
  BAG64871 (Get FASTA)   NCBI Sequence Viewer  
  CAG28547 (Get FASTA)   NCBI Sequence Viewer  
  EAW58748 (Get FASTA)   NCBI Sequence Viewer  
  EAW58749 (Get FASTA)   NCBI Sequence Viewer  
  EAW58750 (Get FASTA)   NCBI Sequence Viewer  
  EAW58751 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000370842.3
  ENSP00000394039
  ENSP00000394039.2
  ENSP00000414238
  ENSP00000414238.2
  ENSP00000478858
  ENSP00000478858.1
  ENSP00000507310
  ENSP00000507310.1
GenBank Protein O95760 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_254274   ⟸   NM_033439
- Peptide Label: isoform a precursor
- UniProtKB: E7EAX4 (UniProtKB/Swiss-Prot),   D3DRI5 (UniProtKB/Swiss-Prot),   B4E1Q9 (UniProtKB/Swiss-Prot),   B4DJ35 (UniProtKB/Swiss-Prot),   B2R8L1 (UniProtKB/Swiss-Prot),   Q2YEJ5 (UniProtKB/Swiss-Prot),   O95760 (UniProtKB/Swiss-Prot),   A0A1I9RI51 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001186569   ⟸   NM_001199640
- Peptide Label: isoform b
- UniProtKB: A0A1I9RI51 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001186570   ⟸   NM_001199641
- Peptide Label: isoform c
- UniProtKB: A0A1I9RI50 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001300973   ⟸   NM_001314044
- Peptide Label: isoform a precursor
- UniProtKB: E7EAX4 (UniProtKB/Swiss-Prot),   D3DRI5 (UniProtKB/Swiss-Prot),   B4E1Q9 (UniProtKB/Swiss-Prot),   B4DJ35 (UniProtKB/Swiss-Prot),   B2R8L1 (UniProtKB/Swiss-Prot),   Q2YEJ5 (UniProtKB/Swiss-Prot),   O95760 (UniProtKB/Swiss-Prot),   A0A1I9RI51 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001300976   ⟸   NM_001314047
- Peptide Label: isoform d
- UniProtKB: A0A1I9RI51 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001300975   ⟸   NM_001314046
- Peptide Label: isoform d
- UniProtKB: A0A1I9RI51 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001300977   ⟸   NM_001314048
- Peptide Label: isoform e
- UniProtKB: O95760 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001300974   ⟸   NM_001314045
- Peptide Label: isoform a precursor
- UniProtKB: E7EAX4 (UniProtKB/Swiss-Prot),   D3DRI5 (UniProtKB/Swiss-Prot),   B4E1Q9 (UniProtKB/Swiss-Prot),   B4DJ35 (UniProtKB/Swiss-Prot),   B2R8L1 (UniProtKB/Swiss-Prot),   Q2YEJ5 (UniProtKB/Swiss-Prot),   O95760 (UniProtKB/Swiss-Prot),   A0A1I9RI51 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016870774   ⟸   XM_017015285
- Peptide Label: isoform X2
- UniProtKB: A0A1I9RI51 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001340731   ⟸   NM_001353802
- Peptide Label: isoform f
- UniProtKB: A0A1I9RI51 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000478858   ⟸   ENST00000611532
Ensembl Acc Id: ENSP00000414238   ⟸   ENST00000456383
Ensembl Acc Id: ENSP00000394039   ⟸   ENST00000417746
Ensembl Acc Id: ENSP00000370842   ⟸   ENST00000381434
Ensembl Acc Id: ENSP00000507310   ⟸   ENST00000682010
RefSeq Acc Id: XP_047280018   ⟸   XM_047424062
- Peptide Label: isoform X1
- UniProtKB: O95760 (UniProtKB/Swiss-Prot),   E7EAX4 (UniProtKB/Swiss-Prot),   D3DRI5 (UniProtKB/Swiss-Prot),   B4E1Q9 (UniProtKB/Swiss-Prot),   B4DJ35 (UniProtKB/Swiss-Prot),   B2R8L1 (UniProtKB/Swiss-Prot),   Q2YEJ5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047280017   ⟸   XM_047424061
- Peptide Label: isoform X1
- UniProtKB: O95760 (UniProtKB/Swiss-Prot),   E7EAX4 (UniProtKB/Swiss-Prot),   D3DRI5 (UniProtKB/Swiss-Prot),   B4E1Q9 (UniProtKB/Swiss-Prot),   B4DJ35 (UniProtKB/Swiss-Prot),   B2R8L1 (UniProtKB/Swiss-Prot),   Q2YEJ5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047280020   ⟸   XM_047424064
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047280016   ⟸   XM_047424060
- Peptide Label: isoform X1
- UniProtKB: O95760 (UniProtKB/Swiss-Prot),   E7EAX4 (UniProtKB/Swiss-Prot),   D3DRI5 (UniProtKB/Swiss-Prot),   B4E1Q9 (UniProtKB/Swiss-Prot),   B4DJ35 (UniProtKB/Swiss-Prot),   B2R8L1 (UniProtKB/Swiss-Prot),   Q2YEJ5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047280019   ⟸   XM_047424063
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054220125   ⟸   XM_054364150
- Peptide Label: isoform X1
- UniProtKB: O95760 (UniProtKB/Swiss-Prot),   E7EAX4 (UniProtKB/Swiss-Prot),   D3DRI5 (UniProtKB/Swiss-Prot),   B4E1Q9 (UniProtKB/Swiss-Prot),   B4DJ35 (UniProtKB/Swiss-Prot),   B2R8L1 (UniProtKB/Swiss-Prot),   Q2YEJ5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054220128   ⟸   XM_054364153
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054220124   ⟸   XM_054364149
- Peptide Label: isoform X1
- UniProtKB: O95760 (UniProtKB/Swiss-Prot),   E7EAX4 (UniProtKB/Swiss-Prot),   D3DRI5 (UniProtKB/Swiss-Prot),   B4E1Q9 (UniProtKB/Swiss-Prot),   B4DJ35 (UniProtKB/Swiss-Prot),   B2R8L1 (UniProtKB/Swiss-Prot),   Q2YEJ5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054220127   ⟸   XM_054364152
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054220123   ⟸   XM_054364148
- Peptide Label: isoform X1
- UniProtKB: O95760 (UniProtKB/Swiss-Prot),   E7EAX4 (UniProtKB/Swiss-Prot),   D3DRI5 (UniProtKB/Swiss-Prot),   B4E1Q9 (UniProtKB/Swiss-Prot),   B4DJ35 (UniProtKB/Swiss-Prot),   B2R8L1 (UniProtKB/Swiss-Prot),   Q2YEJ5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054220126   ⟸   XM_054364151
- Peptide Label: isoform X2
Protein Domains
Interleukin 33 C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95760-F1-model_v2 AlphaFold O95760 1-270 view protein structure

Promoters
RGD ID:7214645
Promoter ID:EPDNEW_H13068
Type:initiation region
Name:IL33_1
Description:interleukin 33
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13067  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3896,215,151 - 6,215,211EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16028 AgrOrtholog
COSMIC IL33 COSMIC
Ensembl Genes ENSG00000137033 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000381434.7 UniProtKB/Swiss-Prot
  ENST00000417746 ENTREZGENE
  ENST00000417746.6 UniProtKB/Swiss-Prot
  ENST00000456383 ENTREZGENE
  ENST00000456383.3 UniProtKB/Swiss-Prot
  ENST00000611532 ENTREZGENE
  ENST00000611532.4 UniProtKB/Swiss-Prot
  ENST00000682010 ENTREZGENE
  ENST00000682010.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.80.10.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000137033 GTEx
HGNC ID HGNC:16028 ENTREZGENE
Human Proteome Map IL33 Human Proteome Map
InterPro IL-33 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IL33_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:90865 UniProtKB/Swiss-Prot
NCBI Gene 90865 ENTREZGENE
OMIM 608678 OMIM
PANTHER INTERLEUKIN-33 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR21114 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam IL33 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162392005 PharmGKB
UniProt A0A1I9RI50 ENTREZGENE, UniProtKB/TrEMBL
  A0A1I9RI51 ENTREZGENE, UniProtKB/TrEMBL
  B2R8L1 ENTREZGENE
  B4DJ35 ENTREZGENE
  B4E1Q9 ENTREZGENE
  D3DRI5 ENTREZGENE
  E7EAX4 ENTREZGENE
  IL33_HUMAN UniProtKB/Swiss-Prot
  L8ECM0_HUMAN UniProtKB/TrEMBL
  O95760 ENTREZGENE
  Q2YEJ5 ENTREZGENE
UniProt Secondary B2R8L1 UniProtKB/Swiss-Prot
  B4DJ35 UniProtKB/Swiss-Prot
  B4E1Q9 UniProtKB/Swiss-Prot
  D3DRI5 UniProtKB/Swiss-Prot
  E7EAX4 UniProtKB/Swiss-Prot
  Q2YEJ5 UniProtKB/Swiss-Prot