CD40 (CD40 molecule) - Rat Genome Database

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Gene: CD40 (CD40 molecule) Homo sapiens
Analyze
Symbol: CD40
Name: CD40 molecule
RGD ID: 1604657
HGNC Page HGNC:11919
Description: Enables signaling receptor activity and ubiquitin protein ligase binding activity. Involved in several processes, including cell surface receptor signaling pathway; cellular response to mechanical stimulus; and positive regulation of signal transduction. Located in cell surface and extracellular exosome. Implicated in several diseases, including Kawasaki disease; autoimmune disease (multiple); end stage renal disease; hyperimmunoglobulin syndrome (multiple); and non-Hodgkin lymphoma (multiple). Biomarker of several diseases, including artery disease (multiple); autoimmune disease (multiple); bronchial disease (multiple); cardiomyopathy (multiple); and hematologic cancer (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: B cell surface antigen CD40; B cell-associated molecule; B-cell surface antigen CD40; Bp50; CD40 antigen (TNF receptor superfamily member 5); CD40 molecule TNF receptor superfamily member 5; CD40 molecule, TNF receptor superfamily member 5; CD40 type II isoform; CD40L receptor; CDW40; MGC9013; nerve growth factor receptor-related B-lymphocyte activation molecule; p50; TNFRSF5; tumor necrosis factor receptor superfamily member 5; tumor necrosis factor receptor superfamily, member 5
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
GRCh382046,118,314 - 46,129,858 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2046,118,271 - 46,129,863 (+)EnsemblGRCh38hg38GRCh38
GRCh372044,746,953 - 44,758,497 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362044,180,313 - 44,191,791 (+)NCBINCBI36Build 36hg18NCBI36
Celera2041,458,363 - 41,469,842 (+)NCBICelera
Cytogenetic Map20q13.12NCBI
HuRef2041,488,189 - 41,499,674 (+)NCBIHuRef
CHM1_12044,649,540 - 44,661,003 (+)NCBICHM1_1
T2T-CHM13v2.02047,854,355 - 47,865,910 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Acute Coronary Syndrome  (IAGP)
acute myocarditis  (IEP)
adenosine deaminase deficiency  (IAGP)
allergic rhinitis  (IEP)
Alzheimer's disease  (ISO)
Animal Helminthiasis  (ISO)
Animal Mammary Neoplasms  (ISO)
Animal Viral Hepatitis  (ISO)
anti-basement membrane glomerulonephritis  (ISO)
arthritis  (IAGP)
asthma  (IAGP,IEP,ISO)
atherosclerosis  (ISO)
atopic dermatitis  (IEP)
atrial fibrillation  (IEP)
autoimmune thrombocytopenic purpura  (IEP)
B-Cell Chronic Lymphocytic Leukemia  (IMP)
B-cell lymphoma  (IMP)
bacterial pneumonia  (ISO)
Brain Injuries  (ISO)
Breast Neoplasms  (EXP)
bronchiolitis  (IEP)
Burkitt lymphoma  (IMP)
CD40 ligand deficiency  (IAGP)
chlamydia  (ISO)
Chronic Allograft Dysfunction  (ISO)
chronic myeloid leukemia  (IEP)
chronic obstructive pulmonary disease  (IEP)
colitis  (ISO)
crescentic glomerulonephritis  (ISO)
Crohn's disease  (IAGP,IEP)
cryptococcosis  (ISO)
cutaneous lupus erythematosus  (IEP)
Delayed Hypersensitivity  (ISO)
dermatomyositis  (IEP)
diffuse large B-cell lymphoma  (IAGP)
dilated cardiomyopathy  (IEP)
Discoid Lupus Erythematosus  (IEP)
Ehrlich tumor carcinoma  (ISO)
end stage renal disease  (IDA,IEP)
Endotoxemia  (ISO)
erythema multiforme  (IEP)
Experimental Arthritis  (ISO)
Experimental Autoimmune Myocarditis  (ISO)
Experimental Autoimmune Neuritis  (ISO)
Experimental Mammary Neoplasms  (ISO)
focal epilepsy  (IAGP)
follicular lymphoma  (IAGP)
galactosialidosis  (IAGP)
genetic disease  (IAGP)
graft-versus-host disease  (ISO)
Graves' disease  (IAGP)
Hashimoto Disease  (IEP)
high grade glioma  (ISO)
Hodgkin's lymphoma  (EXP)
human immunodeficiency virus infectious disease  (IEP)
Human Influenza  (ISO)
hyper IgM syndrome  (EXP)
Hypercholesterolemia  (ISO)
hyperglycemia  (EXP)
hyperimmunoglobulin syndrome  (IAGP)
hyperinsulinism  (EXP)
hyperthyroidism  (ISO)
immunodeficiency with hyper IgM type 3  (IAGP)
Inflammation  (ISO)
Insulin Resistance  (EXP)
insulinoma  (ISO)
Kawasaki disease  (EXP,IAGP)
Kidney Reperfusion Injury  (ISO)
lichen planus  (IEP)
Liver Reperfusion Injury  (ISO)
lupus nephritis  (ISO)
Lyme Neuroborreliosis  (IEP)
Lymphatic Metastasis  (IAGP)
malaria  (ISO)
malignant mesothelioma  (ISO)
melanoma  (IMP,ISO)
membranous glomerulonephritis  (ISO)
multiple myeloma  (IMP)
multiple sclerosis  (EXP,IAGP)
Murine Acquired Immunodeficiency Syndrome  (ISO)
myelodysplastic syndrome  (IEP)
Myocardial Ischemia  (ISO)
Neisseriaceae Infections  (IEP)
non-Hodgkin lymphoma  (IMP)
obesity  (EXP,ISO)
pancreatic ductal carcinoma  (IDA,IEP,IMP)
pemphigus  (IDA)
Perennial Allergic Rhinitis  (ISO)
perinatal necrotizing enterocolitis  (ISO)
peritonitis  (ISO)
plasma cell leukemia  (IMP)
pneumocystosis  (ISO)
pre-eclampsia  (IEP)
psoriasis  (IAGP)
pulmonary hypertension  (ISO)
renal artery obstruction  (IEP)
renal cell carcinoma  (ISO)
Reperfusion Injury  (ISO)
rheumatoid arthritis  (EXP,IAGP)
Schistosomiasis Mansoni  (ISO)
Sepsis  (IDA)
skin melanoma  (IEP)
status epilepticus  (EXP)
Stroke  (IEP)
Subacute Combined Degeneration  (ISO)
systemic lupus erythematosus  (IAGP)
thrombosis  (ISO)
tick-borne encephalitis  (IEP)
transient cerebral ischemia  (ISO)
Transplant Rejection  (IEP,IMP,ISO)
type 1 diabetes mellitus  (IEP)
ulcerative colitis  (IEP)
Vascular Calcification  (IEP)
Viral Myocarditis  (ISO)
visceral leishmaniasis  (ISO)
X-linked hyper IgM syndrome  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(-)-demecolcine  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17beta-estradiol  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2-palmitoylglycerol  (EXP)
2-trans,6-trans,10-trans-geranylgeranyl diphosphate  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-mercaptopropanoic acid  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
4-aminopyridine  (ISO)
4-DAMP(1+)  (EXP)
4-hydroxycyclophosphamide  (ISO)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
actinomycin D  (EXP)
afimoxifene  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha-Zearalanol  (ISO)
aluminium hydroxide  (EXP)
ammonium chloride  (ISO)
ampicillin  (EXP)
antirheumatic drug  (EXP)
apigenin  (EXP)
arachidonic acid  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
asbestos  (EXP)
atorvastatin calcium  (EXP)
atropine  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-D-glucan  (ISO)
betamethasone valerate  (EXP)
bicalutamide  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
butanal  (EXP)
cadmium telluride  (ISO)
Calcimycin  (EXP)
calcitriol  (EXP)
cannabidiol  (EXP)
carbachol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroethene  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
choline  (EXP,ISO)
cisplatin  (EXP,ISO)
clobetasol  (ISO)
cortisol  (ISO)
curcumin  (EXP,ISO)
cyanocob(III)alamin  (EXP)
cyclophosphamide  (ISO)
daidzein  (ISO)
delta-tocotrienol  (ISO)
deoxynivalenol  (ISO)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
diazinon  (ISO)
dibutyl phthalate  (ISO)
dimethylarsinic acid  (ISO)
diquat  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
entinostat  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
fenofibrate  (EXP)
fisetin  (EXP)
folic acid  (EXP,ISO)
formaldehyde  (EXP)
furan  (ISO)
furosemide  (ISO)
gemcitabine  (EXP)
Genipin  (ISO)
gentamycin  (ISO)
glyphosate  (EXP)
gold atom  (EXP)
gold(0)  (EXP)
helenalin  (EXP)
histamine  (EXP)
hydroxysafflor yellow A  (ISO)
imiquimod  (ISO)
immunological adjuvant  (EXP)
indirubin-3'-monoxime  (ISO)
indole-3-methanol  (ISO)
indometacin  (EXP)
isoflurane  (ISO)
L-ascorbic acid  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (EXP,ISO)
lithium chloride  (ISO)
lovastatin  (ISO)
luteolin  (EXP)
mercury atom  (EXP)
mercury dibromide  (EXP)
mercury(0)  (EXP)
metam  (ISO)
methoxychlor  (ISO)
methylarsonic acid  (ISO)
mevalonic acid  (ISO)
mevastatin  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
Monobutylphthalate  (ISO)
muramyl dipeptide  (EXP)
Myrtucommulone A  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
niclosamide  (ISO)
nicotinamide  (ISO)
nitrates  (ISO)
Nutlin-3  (EXP)
nystatin  (ISO)
o-anisidine  (EXP)
ozone  (ISO)
p-menthan-3-ol  (EXP)
paracetamol  (EXP)
paraquat  (EXP)
pentanal  (EXP)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (ISO)
perfluoroundecanoic acid  (EXP)
pevonedistat  (EXP)
phenethyl isothiocyanate  (EXP,ISO)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
pirenzepine  (EXP)
poly(I:C)  (EXP)
pravastatin  (ISO)
propanal  (EXP)
protein kinase inhibitor  (EXP)
pyrethrins  (EXP)
quercetin  (EXP,ISO)
raloxifene  (ISO)
resveratrol  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
simvastatin  (EXP,ISO)
sirtinol  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium aurothiosulfate  (EXP)
sodium dodecyl sulfate  (EXP)
Soman  (ISO)
succimer  (ISO)
T-2 toxin  (ISO)
tetrathiomolybdate(2-)  (EXP)
Theaflavin 3,3'-digallate  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
toluene 2,4-diisocyanate  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
triprolidine  (EXP)
Triptolide  (ISO)
triptonide  (ISO)
tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate  (EXP)
U-73122  (EXP)
usnic acid  (EXP)
valproic acid  (EXP)
vemurafenib  (EXP)
vincristine  (EXP)
vorinostat  (EXP)
zaragozic acid A  (ISO)
zinc atom  (EXP)
zinc protoporphyrin  (ISO)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
B cell activation  (IBA,IEA,ISO)
B cell mediated immunity  (IEA)
B cell proliferation  (IEA,NAS)
CD40 signaling pathway  (IDA,IEA,IMP)
cell surface receptor signaling pathway via JAK-STAT  (IMP)
cellular response to erythropoietin  (IEA,ISO)
cellular response to interleukin-1  (IEA,ISO)
cellular response to lipopolysaccharide  (IEA,ISO)
cellular response to mechanical stimulus  (IEP)
cellular response to tumor necrosis factor  (IEA,ISO)
defense response to protozoan  (IEA)
defense response to virus  (IEA)
immune response-regulating cell surface receptor signaling pathway  (IBA,IEA)
immune system process  (IEA)
inflammatory response  (TAS)
intracellular calcium ion homeostasis  (IEA,IMP)
phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IEA)
platelet activation  (NAS)
positive regulation of angiogenesis  (IMP)
positive regulation of B cell proliferation  (IEA)
positive regulation of blood vessel endothelial cell migration  (IMP)
positive regulation of canonical NF-kappaB signal transduction  (IEP,IMP)
positive regulation of endothelial cell apoptotic process  (IDA)
positive regulation of interleukin-12 production  (IEA)
positive regulation of interleukin-4-mediated signaling pathway  (IGI)
positive regulation of isotype switching to IgG isotypes  (IEA)
positive regulation of MAPK cascade  (IMP)
positive regulation of protein kinase C signaling  (IMP)
positive regulation of transcription by RNA polymerase II  (IGI,IMP)
protein-containing complex assembly  (TAS)
regulation of immune response  (IEA)
regulation of immunoglobulin production  (IEA)
response to bacterium  (IEA,ISO)
response to cobalamin  (IEA,ISO)
response to nutrient levels  (IEA,ISO)
response to peptide  (IEA,ISO)
response to type II interferon  (IEA,ISO)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Phase I study of the humanized anti-CD40 monoclonal antibody dacetuzumab in refractory or recurrent non-Hodgkin's lymphoma. Advani R, etal., J Clin Oncol. 2009 Sep 10;27(26):4371-7. doi: 10.1200/JCO.2008.21.3017. Epub 2009 Jul 27.
2. A phase I study of an agonist CD40 monoclonal antibody (CP-870,893) in combination with gemcitabine in patients with advanced pancreatic ductal adenocarcinoma. Beatty GL, etal., Clin Cancer Res. 2013 Nov 15;19(22):6286-95. doi: 10.1158/1078-0432.CCR-13-1320. Epub 2013 Aug 27.
3. CD40 agonists alter tumor stroma and show efficacy against pancreatic carcinoma in mice and humans. Beatty GL, etal., Science. 2011 Mar 25;331(6024):1612-6.
4. Selective targeting of B cells with agonistic anti-CD40 is an efficacious strategy for the generation of induced regulatory T2-like B cells and for the suppression of lupus in MRL/lpr mice. Blair PA, etal., J Immunol. 2009 Mar 15;182(6):3492-502. doi: 10.4049/jimmunol.0803052.
5. A striking local esophageal cytokine expression profile in eosinophilic esophagitis. Blanchard C, etal., J Allergy Clin Immunol. 2011 Jan;127(1):208-17, 217.e1-7.
6. CD40: novel association with Crohn's disease and replication in multiple sclerosis susceptibility. Blanco-Kelly F, etal., PLoS One. 2010 Jul 12;5(7):e11520.
7. Blocking the CD40-CD40L interaction by CD40-Ig reduces disease progress in murine myocarditis induced by CVB3. Bo H, etal., Cardiovasc Pathol. 2010 Nov-Dec;19(6):371-6. doi: 10.1016/j.carpath.2009.10.002. Epub 2009 Nov 14.
8. The CD40-CD40L pathway contributes to the proinflammatory function of intestinal epithelial cells in inflammatory bowel disease. Borcherding F, etal., Am J Pathol. 2010 Apr;176(4):1816-27. Epub 2010 Feb 4.
9. A short course of BG9588 (anti-CD40 ligand antibody) improves serologic activity and decreases hematuria in patients with proliferative lupus glomerulonephritis. Boumpas DT, etal., Arthritis Rheum. 2003 Mar;48(3):719-27.
10. CD40-CD154 expression in calcified and non-calcified coronary lesions of patients with chronic renal failure. Campean V, etal., Atherosclerosis. 2007 Jan;190(1):156-66. Epub 2006 Feb 21.
11. The CD40/CD40 ligand system in the skin of patients with subacute cutaneous lupus erythematosus. Caproni M, etal., J Rheumatol. 2007 Dec;34(12):2412-6. Epub 2007 Nov 15.
12. Blockade of costimulation between T cells and antigen-presenting cells: an approach to suppress murine Graves' disease induced using thyrotropin receptor-expressing adenovirus. Chen CR, etal., Thyroid. 2006 May;16(5):427-34.
13. Differential gene expression pattern of diabetic rat retinas after intravitreal injection of erythropoietin. Chu Q, etal., Clin Experiment Ophthalmol. 2011 Mar;39(2):142-51. doi: 10.1111/j.1442-9071.2010.02437.x.
14. Potential role of soluble CD40 in the humoral immune response impairment of uraemic patients. Contin C, etal., Immunology. 2003 Sep;110(1):131-40.
15. CD154-CD40 T-cell co-stimulation pathway is a key mechanism in kidney ischemia-reperfusion injury. de Ramon L, etal., Kidney Int. 2015 Sep;88(3):538-49. doi: 10.1038/ki.2015.146. Epub 2015 May 20.
16. Neuroprotective effect of AG490 in experimental traumatic brain injury of rats. DU AL, etal., Chin Med J (Engl). 2013 Aug;126(15):2934-7.
17. Extracellular matrix-associated (GAGs, CTGF), angiogenic (VEGF) and inflammatory factors (MCP-1, CD40, IFN-gamma) in type 1 diabetes mellitus nephropathy. Ellina O, etal., Clin Chem Lab Med. 2012 Jan;50(1):167-74. doi: 10.1515/cclm.2011.881.
18. Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. Ferrari S, etal., Proc Natl Acad Sci U S A. 2001 Oct 23;98(22):12614-9.
19. Intracellular Abeta-oligomers and early inflammation in a model of Alzheimer's disease. Ferretti MT, etal., Neurobiol Aging. 2011 Mar 15.
20. In vivo efficacy and toxicity of a single-chain immunotoxin targeted to CD40. Francisco JA, etal., Blood. 1997 Jun 15;89(12):4493-500.
21. Agonistic properties and in vivo antitumor activity of the anti-CD40 antibody SGN-14. Francisco JA, etal., Cancer Res. 2000 Jun 15;60(12):3225-31.
22. The multiple sclerosis whole blood mRNA transcriptome and genetic associations indicate dysregulation of specific T cell pathways in pathogenesis. Gandhi KS, etal., Hum Mol Genet. 2010 Jun 1;19(11):2134-43. Epub 2010 Feb 27.
23. CD40 antisense oligonucleotide inhibition of trinitrobenzene sulphonic acid induced rat colitis. Gao D, etal., Gut. 2005 Jan;54(1):70-7.
24. Effect of resveratrol on platelet activation in hypercholesterolemic rats: CD40-CD40L system as a potential target. Gocmen AY, etal., Appl Physiol Nutr Metab. 2011 Jun;36(3):323-30. doi: 10.1139/h11-022. Epub 2011 May 16.
25. Effect of atorvastatin on atherosclerotic plaque formation and platelet activation in hypercholesterolemic rats. Gocmen AY, etal., Can J Physiol Pharmacol. 2013 Sep;91(9):680-5. doi: 10.1139/cjpp-2012-0325. Epub 2013 Apr 8.
26. Loss of CD40 endogenous S-nitrosylation during inflammatory response in endotoxemic mice and patients with sepsis. Godoy LC, etal., Shock. 2010 Jun;33(6):626-33.
27. Attenuation of experimental autoimmune myocarditis by si-RNA mediated CD40 silencing. Gong X, etal., Int Heart J. 2014;55(6):539-45. Epub 2014 Oct 7.
28. The CD154/CD40 interaction required for retrovirus-induced murine immunodeficiency syndrome is not mediated by upregulation of the CD80/CD86 costimulatory molecules. Green KA, etal., J Virol. 2002 Dec;76(24):13106-10.
29. CD40 is required for development of islet inflammation in the RIP-CD154 transgenic mouse model of type 1 diabetes. Haase C and Markholst H, Ann N Y Acad Sci. 2007 Jun;1107:373-9.
30. Effect of CD40 and sCD40L on renal function and survival in patients with renal artery stenosis. Haller ST, etal., Hypertension. 2013 Apr;61(4):894-900. doi: 10.1161/HYPERTENSIONAHA.111.00685. Epub 2013 Feb 11.
31. Platelet expression of CD40/CD40 ligand and its relation to inflammatory markers and adhesion molecules in patients with atrial fibrillation. Hammwohner M, etal., Exp Biol Med (Maywood). 2007 Apr;232(4):581-9.
32. Heligmosomoides polygyrus infection can inhibit colitis through direct interaction with innate immunity. Hang L, etal., J Immunol. 2010 Sep 15;185(6):3184-9. Epub 2010 Aug 11.
33. Pathogen-mediated inflammatory atherosclerosis is mediated in part via Toll-like receptor 2-induced inflammatory responses. Hayashi C, etal., J Innate Immun. 2010;2(4):334-43. Epub 2010 May 10.
34. House dust mite regulate the lung inflammation of asthmatic mice through TLR4 pathway in airway epithelial cells. Hongjia L, etal., Cell Biochem Funct. 2010 Oct;28(7):597-603.
35. Fc-engineered anti-CD40 antibody enhances multiple effector functions and exhibits potent in vitro and in vivo antitumor activity against hematologic malignancies. Horton HM, etal., Blood. 2010 Oct 21;116(16):3004-12. Epub 2010 Jul 8.
36. Role of the CD40 locus in Graves' disease. Houston FA, etal., Thyroid. 2004 Jul;14(7):506-9.
37. Association of CD40 and thyroglobulin genes with later-onset Graves' disease in Taiwanese patients. Hsiao JY, etal., Eur J Endocrinol. 2008 Nov;159(5):617-21. doi: 10.1530/EJE-08-0410. Epub 2008 Aug 28.
38. STAT2*C related genotypes and allele but not TLR4 and CD40 gene polymorphisms are associated with higher susceptibility for asthma. Hsieh YY, etal., Int J Biol Sci. 2009;5(1):74-81. Epub 2009 Jan 9.
39. CD40/CD40 ligand signaling in mouse cerebral microvasculature after focal ischemia/reperfusion. Ishikawa M, etal., Circulation. 2005 Apr 5;111(13):1690-6. Epub 2005 Mar 28.
40. Intratumoral interleukin-2/agonist CD40 antibody drives CD4+ -independent resolution of treated-tumors and CD4+ -dependent systemic and memory responses. Jackaman C and Nelson DJ, Cancer Immunol Immunother. 2012 Apr;61(4):549-60. doi: 10.1007/s00262-011-1120-5. Epub 2011 Oct 15.
41. Differences in innate immune responses correlate with differences in murine susceptibility to Chlamydia muridarum pulmonary infection. Jiang X, etal., Immunology. 2010 Apr;129(4):556-66. Epub 2009 Sep 11.
42. Bicistronic adenovirus-mediated gene transfer of CTLA4Ig gene and CD40Ig gene result in indefinite survival of islet xenograft. Jin YZ and Xie SS, Transplant Proc. 2003 Dec;35(8):3165-6.
43. Association of genetic polymorphisms in CD40 with susceptibility to SLE in the Korean population. Joo YB, etal., Rheumatology (Oxford). 2013 Apr;52(4):623-30. doi: 10.1093/rheumatology/kes339. Epub 2012 Dec 18.
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PMID:26289938   PMID:26305332   PMID:26462153   PMID:26474561   PMID:26545336   PMID:26658005   PMID:26779844   PMID:26821950   PMID:26823861   PMID:26871637   PMID:26901523   PMID:27031714  
PMID:27063419   PMID:27077111   PMID:27090943   PMID:27118451   PMID:27200368   PMID:27412561   PMID:27461004   PMID:27472092   PMID:27512950   PMID:27578014   PMID:27630283   PMID:27631497  
PMID:27716849   PMID:27722794   PMID:27798157   PMID:27813548   PMID:27869172   PMID:27875792   PMID:27929668   PMID:27992360   PMID:28030642   PMID:28281187   PMID:28320398   PMID:28536305  
PMID:28566713   PMID:28742400   PMID:28801306   PMID:28904313   PMID:28963582   PMID:29146546   PMID:29180619   PMID:29361022   PMID:29371709   PMID:29549140   PMID:29780830   PMID:30013183  
PMID:30089130   PMID:30223781   PMID:30305327   PMID:30374748   PMID:30447377   PMID:30464201   PMID:30511624   PMID:30878028   PMID:30890614   PMID:30924686   PMID:31125770   PMID:31183392  
PMID:31313080   PMID:31331973   PMID:31365872   PMID:31373353   PMID:31515488   PMID:31570051   PMID:31615434   PMID:31642196   PMID:31921199   PMID:32041822   PMID:32111053   PMID:32296183  
PMID:32345091   PMID:32407843   PMID:32419081   PMID:32687490   PMID:32700598   PMID:33180391   PMID:33371207   PMID:33674076   PMID:33837301   PMID:33875006   PMID:33961781   PMID:33968033  
PMID:34010245   PMID:34084166   PMID:34167573   PMID:34625948   PMID:34678319   PMID:34830445   PMID:34867801   PMID:34871197   PMID:35031307   PMID:35107652   PMID:36011296   PMID:36051533  
PMID:36217029   PMID:36520044   PMID:36828013   PMID:37294707   PMID:37691121   PMID:37728854   PMID:37880178   PMID:38051541   PMID:38111334   PMID:38494863   PMID:39242402   PMID:39261658  
PMID:39350313  


Genomics

Comparative Map Data
CD40
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382046,118,314 - 46,129,858 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2046,118,271 - 46,129,863 (+)EnsemblGRCh38hg38GRCh38
GRCh372044,746,953 - 44,758,497 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362044,180,313 - 44,191,791 (+)NCBINCBI36Build 36hg18NCBI36
Celera2041,458,363 - 41,469,842 (+)NCBICelera
Cytogenetic Map20q13.12NCBI
HuRef2041,488,189 - 41,499,674 (+)NCBIHuRef
CHM1_12044,649,540 - 44,661,003 (+)NCBICHM1_1
T2T-CHM13v2.02047,854,355 - 47,865,910 (+)NCBIT2T-CHM13v2.0
Cd40
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392164,897,535 - 164,913,574 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2164,897,547 - 164,914,868 (+)EnsemblGRCm39 Ensembl
GRCm382165,055,614 - 165,071,654 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2165,055,627 - 165,072,948 (+)EnsemblGRCm38mm10GRCm38
MGSCv372164,881,136 - 164,897,154 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362164,746,841 - 164,762,859 (+)NCBIMGSCv36mm8
Celera2170,992,951 - 171,008,953 (+)NCBICelera
Cytogenetic Map2H3NCBI
cM Map285.38NCBI
Cd40
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83174,209,113 - 174,224,592 (+)NCBIGRCr8
mRatBN7.23153,790,372 - 153,805,279 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3153,790,449 - 153,805,534 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3157,599,278 - 157,613,890 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03166,098,246 - 166,112,858 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03163,842,022 - 163,856,635 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03161,519,789 - 161,534,943 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3161,519,743 - 161,534,704 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03167,704,285 - 167,719,416 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43156,092,602 - 156,107,427 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13155,998,622 - 156,006,374 (+)NCBI
Celera3152,395,702 - 152,410,527 (+)NCBICelera
Cytogenetic Map3q42NCBI
Cd40
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544511,190,603 - 11,202,093 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544511,191,817 - 11,202,156 (-)NCBIChiLan1.0ChiLan1.0
CD40
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22151,856,711 - 51,870,394 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12051,851,314 - 51,863,198 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02042,455,711 - 42,467,139 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12043,541,619 - 43,552,994 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2043,541,619 - 43,552,994 (+)Ensemblpanpan1.1panPan2
CD40
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12433,352,992 - 33,383,488 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2433,372,930 - 33,383,301 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2432,899,232 - 32,909,488 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02434,062,814 - 34,092,886 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2434,082,384 - 34,092,875 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12433,340,743 - 33,351,000 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02433,456,512 - 33,466,773 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02433,995,494 - 34,005,757 (+)NCBIUU_Cfam_GSD_1.0
Cd40
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640191,483,088 - 191,493,621 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365146,936,572 - 6,947,280 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365146,936,915 - 6,947,246 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CD40
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1748,286,029 - 48,298,528 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11748,286,116 - 48,298,188 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21753,932,001 - 53,943,003 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CD40
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1217,753,713 - 17,765,134 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl217,753,394 - 17,764,566 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605066,388,299 - 66,399,227 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cd40
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247908,476,158 - 8,485,856 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247908,475,640 - 8,485,927 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CD40
255 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001250.6(CD40):c.95TAA[1] (p.Ile33del) microsatellite Hyper-IgM syndrome type 3 [RCV000022450] Chr20:46121863..46121865 [GRCh38]
Chr20:44750502..44750504 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_001250.6(CD40):c.408A>T (p.Thr136=) single nucleotide variant Hyper-IgM syndrome type 3 [RCV000019324] Chr20:46123130 [GRCh38]
Chr20:44751769 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_001250.6(CD40):c.257-2A>T single nucleotide variant Hyper-IgM syndrome type 3 [RCV000019326] Chr20:46122608 [GRCh38]
Chr20:44751247 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_001250.6(CD40):c.247T>C (p.Cys83Arg) single nucleotide variant Hyper-IgM syndrome type 3 [RCV000019325] Chr20:46122349 [GRCh38]
Chr20:44750988 [GRCh37]
Chr20:20q13.12		 pathogenic
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 copy number gain See cases [RCV000053035] Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33		 pathogenic
NM_001250.6(CD40):c.336G>A (p.Thr112=) single nucleotide variant not provided [RCV003847408] Chr20:46122689 [GRCh38]
Chr20:44751328 [GRCh37]
Chr20:44184735 [NCBI36]
Chr20:20q13.12		 likely benign|not provided
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 copy number loss See cases [RCV000140816] Chr20:35237946..47631818 [GRCh38]
Chr20:33825749..46260562 [GRCh37]
Chr20:33289165..45693969 [NCBI36]
Chr20:20q11.22-13.12		 pathogenic
NM_001250.6(CD40):c.750A>G (p.Pro250=) single nucleotide variant Hyper-IgM syndrome type 3 [RCV001143076]|not provided [RCV000755895] Chr20:46128956 [GRCh38]
Chr20:44757595 [GRCh37]
Chr20:20q13.12		 likely benign|uncertain significance
NM_001250.6(CD40):c.679C>G (p.Pro227Ala) single nucleotide variant Hyper-IgM syndrome type 3 [RCV001000003]|not provided [RCV001512285]|not specified [RCV000434147] Chr20:46128885 [GRCh38]
Chr20:44757524 [GRCh37]
Chr20:20q13.12		 benign|likely benign
NM_001250.6(CD40):c.*119C>T single nucleotide variant Hyperimmunoglobulin M syndrome [RCV001844131] Chr20:46129159 [GRCh38]
Chr20:44757798 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.*310C>G single nucleotide variant Hyper-IgM syndrome type 3 [RCV000281478] Chr20:46129350 [GRCh38]
Chr20:44757989 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.371C>T (p.Ser124Leu) single nucleotide variant Hyper-IgM syndrome type 3 [RCV001000340]|not provided [RCV001519404] Chr20:46122724 [GRCh38]
Chr20:44751363 [GRCh37]
Chr20:20q13.12		 benign|likely benign
NM_001250.5(CD40):c.-69delT deletion Hyperimmunoglobulin M syndrome [RCV001844129]|not provided [RCV000590173] Chr20:46118275 [GRCh38]
Chr20:44746914 [GRCh37]
Chr20:20q13.12		 benign|likely benign
NM_001250.6(CD40):c.606C>T (p.Phe202=) single nucleotide variant Hyper-IgM syndrome type 3 [RCV001000341]|not provided [RCV001519405] Chr20:46128184 [GRCh38]
Chr20:44756823 [GRCh37]
Chr20:20q13.12		 benign|likely benign
NM_001250.6(CD40):c.*316G>C single nucleotide variant Hyper-IgM syndrome type 3 [RCV000331880]|not provided [RCV004717382] Chr20:46129356 [GRCh38]
Chr20:44757995 [GRCh37]
Chr20:20q13.12		 benign|likely benign
NM_001250.6(CD40):c.647-4_647-3dup duplication Hyperimmunoglobulin M syndrome [RCV001844130]|not provided [RCV001653636] Chr20:46128304..46128305 [GRCh38]
Chr20:44756943..44756944 [GRCh37]
Chr20:20q13.12		 benign|uncertain significance
NM_001250.5(CD40):c.-41C>T single nucleotide variant Hyper-IgM syndrome type 3 [RCV000312278]|not provided [RCV001541219] Chr20:46118303 [GRCh38]
Chr20:44746942 [GRCh37]
Chr20:20q13.12		 benign|likely benign
NM_001250.6(CD40):c.256+8C>T single nucleotide variant Hyper-IgM syndrome type 3 [RCV000313506]|not provided [RCV002520014] Chr20:46122366 [GRCh38]
Chr20:44751005 [GRCh37]
Chr20:20q13.12		 likely benign|uncertain significance
NM_001250.5(CD40):c.-55C>G single nucleotide variant Hyper-IgM syndrome type 3 [RCV000396470] Chr20:46118289 [GRCh38]
Chr20:44746928 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.*135C>G single nucleotide variant Hyper-IgM syndrome type 3 [RCV000261051]|not provided [RCV001718718] Chr20:46129175 [GRCh38]
Chr20:44757814 [GRCh37]
Chr20:20q13.12		 benign|likely benign
NM_001250.6(CD40):c.*547A>T single nucleotide variant Hyper-IgM syndrome type 3 [RCV000296766]|not provided [RCV004694606] Chr20:46129587 [GRCh38]
Chr20:44758226 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.52-15C>T single nucleotide variant Hyper-IgM syndrome type 3 [RCV000398260]|not provided [RCV001516524] Chr20:46121805 [GRCh38]
Chr20:44750444 [GRCh37]
Chr20:20q13.12		 benign|likely benign
NM_001250.6(CD40):c.*178G>A single nucleotide variant Hyper-IgM syndrome type 3 [RCV000316673]|not provided [RCV004694605] Chr20:46129218 [GRCh38]
Chr20:44757857 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.5(CD40):c.-61G>T single nucleotide variant Hyper-IgM syndrome type 3 [RCV000337796] Chr20:46118283 [GRCh38]
Chr20:44746922 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.-1T>C single nucleotide variant Hyper-IgM syndrome type 3 [RCV000608869]|not provided [RCV001691965]|not specified [RCV000456068] Chr20:46118343 [GRCh38]
Chr20:44746982 [GRCh37]
Chr20:20q13.12		 benign
NM_001250.6(CD40):c.*677G>A single nucleotide variant Hyper-IgM syndrome type 3 [RCV000351638] Chr20:46129717 [GRCh38]
Chr20:44758356 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.404-120A>T single nucleotide variant not provided [RCV002285577] Chr20:46123006 [GRCh38]
Chr20:44751645 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.339T>C (p.Ser113=) single nucleotide variant Hyper-IgM syndrome type 3 [RCV000362967]|not provided [RCV002057736] Chr20:46122692 [GRCh38]
Chr20:44751331 [GRCh37]
Chr20:20q13.12		 likely benign|uncertain significance
NM_001250.6(CD40):c.*338A>G single nucleotide variant Hyperimmunoglobulin M syndrome [RCV001844133] Chr20:46129378 [GRCh38]
Chr20:44758017 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.*85G>T single nucleotide variant Hyper-IgM syndrome type 3 [RCV000324474] Chr20:46129125 [GRCh38]
Chr20:44757764 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.*216A>C single nucleotide variant Hyperimmunoglobulin M syndrome [RCV001844132] Chr20:46129256 [GRCh38]
Chr20:44757895 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.*372A>C single nucleotide variant Hyper-IgM syndrome type 3 [RCV001138333] Chr20:46129412 [GRCh38]
Chr20:44758051 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.498-4A>T single nucleotide variant not provided [RCV000587791] Chr20:46126636 [GRCh38]
Chr20:44755275 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.498-35TG[4] microsatellite not provided [RCV000586713] Chr20:46126605..46126606 [GRCh38]
Chr20:44755244..44755245 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.381C>T (p.Pro127=) single nucleotide variant Hyper-IgM syndrome type 3 [RCV000768171]|not provided [RCV002061976]|not specified [RCV000589953] Chr20:46122734 [GRCh38]
Chr20:44751373 [GRCh37]
Chr20:20q13.12		 likely benign|uncertain significance
NM_001250.6(CD40):c.403+20A>G single nucleotide variant Hyper-IgM syndrome type 3 [RCV001001852]|not provided [RCV001522377]|not specified [RCV000421745] Chr20:46122776 [GRCh38]
Chr20:44751415 [GRCh37]
Chr20:20q13.12		 benign|likely benign
NM_001250.6(CD40):c.256+2T>C single nucleotide variant Hyper-IgM syndrome type 1 [RCV004819197]|Hyper-IgM syndrome type 3 [RCV001333032]|not specified [RCV000506361] Chr20:46122360 [GRCh38]
Chr20:44750999 [GRCh37]
Chr20:20q13.12		 pathogenic|uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_001250.6(CD40):c.681C>T (p.Pro227=) single nucleotide variant not provided [RCV000963530] Chr20:46128887 [GRCh38]
Chr20:44757526 [GRCh37]
Chr20:20q13.12		 benign
NM_001250.6(CD40):c.256+109G>A single nucleotide variant not provided [RCV001679529] Chr20:46122467 [GRCh38]
Chr20:44751106 [GRCh37]
Chr20:20q13.12		 benign
NM_001250.6(CD40):c.256+7G>A single nucleotide variant not provided [RCV000902653] Chr20:46122365 [GRCh38]
Chr20:44751004 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.444C>T (p.Val148=) single nucleotide variant Hyper-IgM syndrome type 3 [RCV001141232]|not provided [RCV000927459] Chr20:46123166 [GRCh38]
Chr20:44751805 [GRCh37]
Chr20:20q13.12		 likely benign|uncertain significance
NM_001250.6(CD40):c.57T>C (p.His19=) single nucleotide variant not provided [RCV000922402] Chr20:46121825 [GRCh38]
Chr20:44750464 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.559+36G>C single nucleotide variant Hyper-IgM syndrome type 3 [RCV001284860]|not provided [RCV004717773] Chr20:46126737 [GRCh38]
Chr20:46126737..46126738 [GRCh38]
Chr20:44755376 [GRCh37]
Chr20:44755376..44755377 [GRCh37]
Chr20:20q13.12		 benign
NM_001250.6(CD40):c.474C>T (p.Phe158=) single nucleotide variant not provided [RCV002061124]|not specified [RCV000780086] Chr20:46123196 [GRCh38]
Chr20:44751835 [GRCh37]
Chr20:20q13.12		 likely benign|uncertain significance
NM_001250.6(CD40):c.188G>A (p.Gly63Asp) single nucleotide variant not specified [RCV000780087] Chr20:46122290 [GRCh38]
Chr20:44750929 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.397C>T (p.Gln133Ter) single nucleotide variant Hyper-IgM syndrome type 3 [RCV000778635]|not provided [RCV003768431] Chr20:46122750 [GRCh38]
Chr20:44751389 [GRCh37]
Chr20:20q13.12		 pathogenic|uncertain significance
NM_001250.6(CD40):c.717C>T (p.Pro239=) single nucleotide variant Hyper-IgM syndrome type 3 [RCV001143075]|not provided [RCV000887191] Chr20:46128923 [GRCh38]
Chr20:44757562 [GRCh37]
Chr20:20q13.12		 benign|likely benign
NM_001250.6(CD40):c.610A>G (p.Ile204Val) single nucleotide variant not provided [RCV000788210] Chr20:46128188 [GRCh38]
Chr20:44756827 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.5(CD40):c.-67G>T single nucleotide variant Hyper-IgM syndrome type 3 [RCV001138235] Chr20:46118277 [GRCh38]
Chr20:44746916 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.*676C>T single nucleotide variant Hyper-IgM syndrome type 3 [RCV001138335] Chr20:46129716 [GRCh38]
Chr20:44758355 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.*560C>T single nucleotide variant Hyper-IgM syndrome type 3 [RCV001138334] Chr20:46129600 [GRCh38]
Chr20:44758239 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.249C>T (p.Cys83=) single nucleotide variant Hyper-IgM syndrome type 3 [RCV001138656]|not provided [RCV002070630] Chr20:46122351 [GRCh38]
Chr20:44750990 [GRCh37]
Chr20:20q13.12		 likely benign|uncertain significance
NM_001250.6(CD40):c.379C>T (p.Pro127Ser) single nucleotide variant Hyper-IgM syndrome type 3 [RCV001141231] Chr20:46122732 [GRCh38]
Chr20:44751371 [GRCh37]
Chr20:20q13.12		 uncertain significance
NC_000020.10:g.(?_44746983)_(44757679_?)del deletion not provided [RCV003105721] Chr20:44746983..44757679 [GRCh37]
Chr20:20q13.12		 pathogenic|uncertain significance
NM_001250.6(CD40):c.51+53G>A single nucleotide variant not provided [RCV001641843]|not specified [RCV003487600] Chr20:46118447 [GRCh38]
Chr20:46118447..46118448 [GRCh38]
Chr20:44747086 [GRCh37]
Chr20:44747086..44747087 [GRCh37]
Chr20:20q13.12		 benign
NM_001250.6(CD40):c.498-168G>T single nucleotide variant not provided [RCV001611107] Chr20:46126472 [GRCh38]
Chr20:44755111 [GRCh37]
Chr20:20q13.12		 benign
NM_001250.6(CD40):c.675+9C>A single nucleotide variant not provided [RCV000933936] Chr20:46128367 [GRCh38]
Chr20:44757006 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.646+28G>A single nucleotide variant not provided [RCV001677337]|not specified [RCV003487673] Chr20:46128252 [GRCh38]
Chr20:44756891 [GRCh37]
Chr20:20q13.12		 benign
NM_001250.6(CD40):c.647-4_647-3del deletion not provided [RCV001659496] Chr20:46128305..46128306 [GRCh38]
Chr20:44756944..44756945 [GRCh37]
Chr20:20q13.12		 benign
NM_001250.6(CD40):c.675+216A>G single nucleotide variant not provided [RCV001638207] Chr20:46128574 [GRCh38]
Chr20:44757213 [GRCh37]
Chr20:20q13.12		 benign
NM_001250.6(CD40):c.57T>A (p.His19Gln) single nucleotide variant not provided [RCV001700681] Chr20:46121825 [GRCh38]
Chr20:44750464 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.676-114G>A single nucleotide variant not provided [RCV001674418]|not specified [RCV003487652] Chr20:46128768 [GRCh38]
Chr20:46128768..46128769 [GRCh38]
Chr20:44757407 [GRCh37]
Chr20:44757407..44757408 [GRCh37]
Chr20:20q13.12		 benign
NM_001250.6(CD40):c.622A>G (p.Ile208Val) single nucleotide variant Hyper-IgM syndrome type 3 [RCV001143074]|not provided [RCV001858937] Chr20:46128200 [GRCh38]
Chr20:44756839 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.498-7T>C single nucleotide variant Hyper-IgM syndrome type 3 [RCV001141233]|not provided [RCV003558710] Chr20:46126633 [GRCh38]
Chr20:44755272 [GRCh37]
Chr20:20q13.12		 likely benign|uncertain significance
NM_001250.6(CD40):c.621C>T (p.Ala207=) single nucleotide variant Hyper-IgM syndrome type 3 [RCV001141234]|not provided [RCV001510650] Chr20:46128199 [GRCh38]
Chr20:44756838 [GRCh37]
Chr20:20q13.12		 benign|likely benign
NM_001250.6(CD40):c.311C>T (p.Thr104Ile) single nucleotide variant Hyper-IgM syndrome type 3 [RCV001141230] Chr20:46122664 [GRCh38]
Chr20:44751303 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.646+45A>C single nucleotide variant not provided [RCV001648866] Chr20:46128269 [GRCh38]
Chr20:44756908 [GRCh37]
Chr20:20q13.12		 benign
NM_001250.6(CD40):c.131-22C>G single nucleotide variant not provided [RCV001669188] Chr20:46122211 [GRCh38]
Chr20:44750850 [GRCh37]
Chr20:20q13.12		 benign
NC_000020.11:g.46118099C>T single nucleotide variant not provided [RCV001710265] Chr20:46118099 [GRCh38]
Chr20:44746738 [GRCh37]
Chr20:20q13.12		 benign
NM_001250.6(CD40):c.647-3del deletion not provided [RCV001615678] Chr20:46128305 [GRCh38]
Chr20:44756944 [GRCh37]
Chr20:20q13.12		 benign
Single allele deletion Focal-onset seizure [RCV001004039] Chr20:34980430..46806549 [GRCh37]
Chr20:20q11.23-13.13		 likely pathogenic
NM_001250.6(CD40):c.647-3dup duplication Hyper-IgM syndrome type 3 [RCV001420684]|not provided [RCV001655709]|not specified [RCV001264503] Chr20:46128304..46128305 [GRCh38]
Chr20:44756943..44756944 [GRCh37]
Chr20:20q13.12		 benign
NM_001250.6(CD40):c.377C>T (p.Ser126Leu) single nucleotide variant not provided [RCV001309400] Chr20:46122730 [GRCh38]
Chr20:44751369 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.51+71C>T single nucleotide variant not provided [RCV001710829] Chr20:46118465 [GRCh38]
Chr20:44747104 [GRCh37]
Chr20:20q13.12		 benign
GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1 copy number loss Developmental and epileptic encephalopathy, 26 [RCV001801198] Chr20:42985044..48599046 [GRCh37]
Chr20:20q13.12-13.13		 pathogenic
NM_001250.6(CD40):c.413T>C (p.Val138Ala) single nucleotide variant not provided [RCV001913716] Chr20:46123135 [GRCh38]
Chr20:44751774 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.101A>G (p.Asn34Ser) single nucleotide variant not provided [RCV002045213] Chr20:46121869 [GRCh38]
Chr20:44750508 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.22T>G (p.Cys8Gly) single nucleotide variant not provided [RCV001911699] Chr20:46118365 [GRCh38]
Chr20:44747004 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.195C>T (p.Ser65=) single nucleotide variant not provided [RCV002021368] Chr20:46122297 [GRCh38]
Chr20:44750936 [GRCh37]
Chr20:20q13.12		 likely benign|uncertain significance
NM_001250.6(CD40):c.475G>A (p.Glu159Lys) single nucleotide variant not provided [RCV002041234] Chr20:46123197 [GRCh38]
Chr20:44751836 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.257-7_257-3del microsatellite not provided [RCV001891355] Chr20:46122597..46122601 [GRCh38]
Chr20:44751236..44751240 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.384C>G (p.Gly128=) single nucleotide variant not provided [RCV002020646] Chr20:46122737 [GRCh38]
Chr20:44751376 [GRCh37]
Chr20:20q13.12		 likely benign|uncertain significance
NM_001250.6(CD40):c.335C>T (p.Thr112Met) single nucleotide variant Inborn genetic diseases [RCV002592540]|not provided [RCV002005898] Chr20:46122688 [GRCh38]
Chr20:44751327 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.208A>G (p.Thr70Ala) single nucleotide variant not provided [RCV001969866] Chr20:46122310 [GRCh38]
Chr20:44750949 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.778C>T (p.Pro260Ser) single nucleotide variant not provided [RCV002023974] Chr20:46128984 [GRCh38]
Chr20:44757623 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.721G>A (p.Asp241Asn) single nucleotide variant not provided [RCV001985803] Chr20:46128927 [GRCh38]
Chr20:44757566 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.256+4C>T single nucleotide variant not provided [RCV002003259] Chr20:46122362 [GRCh38]
Chr20:44751001 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.560-6C>G single nucleotide variant not provided [RCV002000396] Chr20:46128132 [GRCh38]
Chr20:44756771 [GRCh37]
Chr20:20q13.12		 likely benign|uncertain significance
NM_001250.6(CD40):c.702G>A (p.Gln234=) single nucleotide variant not provided [RCV001938534] Chr20:46128908 [GRCh38]
Chr20:44757547 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.403+6T>A single nucleotide variant not provided [RCV001999088] Chr20:46122762 [GRCh38]
Chr20:44751401 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.625C>T (p.Leu209Phe) single nucleotide variant not provided [RCV001974470] Chr20:46128203 [GRCh38]
Chr20:44756842 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.469G>A (p.Ala157Thr) single nucleotide variant not provided [RCV001900121] Chr20:46123191 [GRCh38]
Chr20:44751830 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.344C>T (p.Ala115Val) single nucleotide variant not provided [RCV001901965] Chr20:46122697 [GRCh38]
Chr20:44751336 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.498-17C>T single nucleotide variant not provided [RCV001974197] Chr20:46126623 [GRCh38]
Chr20:44755262 [GRCh37]
Chr20:20q13.12		 likely benign|uncertain significance
NM_001250.6(CD40):c.52-13A>G single nucleotide variant not provided [RCV002013070] Chr20:46121807 [GRCh38]
Chr20:44750446 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.146G>A (p.Ser49Asn) single nucleotide variant not provided [RCV002013670] Chr20:46122248 [GRCh38]
Chr20:44750887 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.382G>A (p.Gly128Ser) single nucleotide variant not provided [RCV002031766] Chr20:46122735 [GRCh38]
Chr20:44751374 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.804G>C (p.Glu268Asp) single nucleotide variant not provided [RCV002047101] Chr20:46129010 [GRCh38]
Chr20:44757649 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.269G>A (p.Arg90Gln) single nucleotide variant not provided [RCV001934182] Chr20:46122622 [GRCh38]
Chr20:44751261 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.412G>A (p.Val138Ile) single nucleotide variant not provided [RCV001938653] Chr20:46123134 [GRCh38]
Chr20:44751773 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.73G>T (p.Ala25Ser) single nucleotide variant Inborn genetic diseases [RCV002549047]|not provided [RCV002031307] Chr20:46121841 [GRCh38]
Chr20:44750480 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.89A>G (p.Gln30Arg) single nucleotide variant not provided [RCV001958268] Chr20:46121857 [GRCh38]
Chr20:44750496 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.560-3C>T single nucleotide variant not provided [RCV001982167] Chr20:46128135 [GRCh38]
Chr20:44756774 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.129A>G (p.Pro43=) single nucleotide variant not provided [RCV002050327] Chr20:46121897 [GRCh38]
Chr20:44750536 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.808C>A (p.Arg270Ser) single nucleotide variant not provided [RCV001903141] Chr20:46129014 [GRCh38]
Chr20:44757653 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.508A>G (p.Lys170Glu) single nucleotide variant not provided [RCV001990575] Chr20:46126650 [GRCh38]
Chr20:44755289 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.131-10T>C single nucleotide variant not provided [RCV002187092] Chr20:46122223 [GRCh38]
Chr20:44750862 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.330C>T (p.His110=) single nucleotide variant not provided [RCV002197416] Chr20:46122683 [GRCh38]
Chr20:44751322 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.720C>T (p.Asp240=) single nucleotide variant not provided [RCV002215963] Chr20:46128926 [GRCh38]
Chr20:44757565 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.54C>T (p.Val18=) single nucleotide variant not provided [RCV002194397] Chr20:46121822 [GRCh38]
Chr20:44750461 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.256+14T>C single nucleotide variant not provided [RCV002106132] Chr20:46122372 [GRCh38]
Chr20:44751011 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.315T>C (p.Cys105=) single nucleotide variant not provided [RCV002208811] Chr20:46122668 [GRCh38]
Chr20:44751307 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.54C>G (p.Val18=) single nucleotide variant not provided [RCV002096331] Chr20:46121822 [GRCh38]
Chr20:44750461 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.147T>C (p.Ser49=) single nucleotide variant not provided [RCV002098035] Chr20:46122249 [GRCh38]
Chr20:44750888 [GRCh37]
Chr20:20q13.12		 benign
NM_001250.6(CD40):c.559+18G>A single nucleotide variant not provided [RCV002176270] Chr20:46126719 [GRCh38]
Chr20:44755358 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.675+20C>G single nucleotide variant not provided [RCV002201509] Chr20:46128378 [GRCh38]
Chr20:44757017 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.573G>T (p.Arg191=) single nucleotide variant not provided [RCV002135880] Chr20:46128151 [GRCh38]
Chr20:44756790 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.786C>T (p.Thr262=) single nucleotide variant not provided [RCV002160040] Chr20:46128992 [GRCh38]
Chr20:44757631 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.646+27G>T single nucleotide variant Hyper-IgM syndrome type 3 [RCV003120342] Chr20:46128251 [GRCh38]
Chr20:44756890 [GRCh37]
Chr20:20q13.12		 benign
NM_001250.6(CD40):c.256+5G>A single nucleotide variant not provided [RCV002858169] Chr20:46122363 [GRCh38]
Chr20:44751002 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.51+7T>C single nucleotide variant not specified [RCV002308524] Chr20:46118401 [GRCh38]
Chr20:44747040 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.694G>A (p.Glu232Lys) single nucleotide variant not provided [RCV002995425] Chr20:46128900 [GRCh38]
Chr20:44757539 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.559+13C>A single nucleotide variant not provided [RCV002681782] Chr20:46126714 [GRCh38]
Chr20:44755353 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.368G>A (p.Arg123His) single nucleotide variant not provided [RCV002614266] Chr20:46122721 [GRCh38]
Chr20:44751360 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.272T>C (p.Val91Ala) single nucleotide variant Inborn genetic diseases [RCV002859297] Chr20:46122625 [GRCh38]
Chr20:44751264 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.257-13C>T single nucleotide variant not provided [RCV002816304] Chr20:46122597 [GRCh38]
Chr20:44751236 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.489T>C (p.Pro163=) single nucleotide variant not provided [RCV002904252] Chr20:46123211 [GRCh38]
Chr20:44751850 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.259C>G (p.Leu87Val) single nucleotide variant not provided [RCV002636043] Chr20:46122612 [GRCh38]
Chr20:44751251 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.531A>G (p.Ala177=) single nucleotide variant not provided [RCV003035199] Chr20:46126673 [GRCh38]
Chr20:44755312 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.540C>A (p.Asn180Lys) single nucleotide variant CD40-related disorder [RCV003403901]|not provided [RCV002755176] Chr20:46126682 [GRCh38]
Chr20:44755321 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.116C>T (p.Ser39Phe) single nucleotide variant Inborn genetic diseases [RCV002777572] Chr20:46121884 [GRCh38]
Chr20:44750523 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.435C>T (p.Pro145=) single nucleotide variant not provided [RCV002617786] Chr20:46123157 [GRCh38]
Chr20:44751796 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.204A>G (p.Leu68=) single nucleotide variant not provided [RCV002614934] Chr20:46122306 [GRCh38]
Chr20:44750945 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.403+11C>T single nucleotide variant not provided [RCV002740066] Chr20:46122767 [GRCh38]
Chr20:44751406 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.268C>T (p.Arg90Trp) single nucleotide variant not provided [RCV002658634] Chr20:46122621 [GRCh38]
Chr20:44751260 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.404-12A>C single nucleotide variant not provided [RCV002736273] Chr20:46123114 [GRCh38]
Chr20:44751753 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.1del (p.Met1fs) deletion not provided [RCV002592360] Chr20:46118344 [GRCh38]
Chr20:44746983 [GRCh37]
Chr20:20q13.12		 likely pathogenic|uncertain significance
NM_001250.6(CD40):c.157G>T (p.Glu53Ter) single nucleotide variant not provided [RCV002848000] Chr20:46122259 [GRCh38]
Chr20:44750898 [GRCh37]
Chr20:20q13.12		 pathogenic|uncertain significance
NM_001250.6(CD40):c.777A>G (p.Gln259=) single nucleotide variant not provided [RCV002570152] Chr20:46128983 [GRCh38]
Chr20:44757622 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.734C>G (p.Ser245Cys) single nucleotide variant Inborn genetic diseases [RCV002695438]|not provided [RCV002720016] Chr20:46128940 [GRCh38]
Chr20:44757579 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.293A>T (p.Glu98Val) single nucleotide variant not provided [RCV003100349] Chr20:46122646 [GRCh38]
Chr20:44751285 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.646+17_646+18del deletion not provided [RCV002658477] Chr20:46128239..46128240 [GRCh38]
Chr20:44756878..44756879 [GRCh37]
Chr20:20q13.12		 likely benign|uncertain significance
NM_001250.6(CD40):c.678_679delinsTG (p.Pro227Ala) indel not provided [RCV002801261] Chr20:46128884..46128885 [GRCh38]
Chr20:44757523..44757524 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.33G>A (p.Trp11Ter) single nucleotide variant not provided [RCV002876679] Chr20:46118376 [GRCh38]
Chr20:44747015 [GRCh37]
Chr20:20q13.12		 pathogenic|uncertain significance
NM_001250.6(CD40):c.254C>T (p.Pro85Leu) single nucleotide variant not provided [RCV003026071] Chr20:46122356 [GRCh38]
Chr20:44750995 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.168A>G (p.Glu56=) single nucleotide variant not provided [RCV002700549] Chr20:46122270 [GRCh38]
Chr20:44750909 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.131-11A>C single nucleotide variant not provided [RCV002572875] Chr20:46122222 [GRCh38]
Chr20:44750861 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.329A>G (p.His110Arg) single nucleotide variant not provided [RCV003006397] Chr20:46122682 [GRCh38]
Chr20:44751321 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.743C>T (p.Ala248Val) single nucleotide variant not provided [RCV003023323] Chr20:46128949 [GRCh38]
Chr20:44757588 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.675+13T>C single nucleotide variant not provided [RCV002666893] Chr20:46128371 [GRCh38]
Chr20:44757010 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.498-15C>T single nucleotide variant not provided [RCV002630929] Chr20:46126625 [GRCh38]
Chr20:44755264 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.403+11C>G single nucleotide variant not provided [RCV002578561] Chr20:46122767 [GRCh38]
Chr20:44751406 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.560-11_560-10insT insertion not provided [RCV002877471] Chr20:46128127..46128128 [GRCh38]
Chr20:44756766..44756767 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.571C>T (p.Arg191Trp) single nucleotide variant not provided [RCV002578037] Chr20:46128149 [GRCh38]
Chr20:44756788 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.560-10A>T single nucleotide variant not provided [RCV003046668] Chr20:46128128 [GRCh38]
Chr20:44756767 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.832_*1del (p.Ter278AlaextTer?) deletion not provided [RCV003064608] Chr20:46129036..46129039 [GRCh38]
Chr20:44757675..44757678 [GRCh37]
Chr20:20q13.12		 likely pathogenic|uncertain significance
NM_001250.6(CD40):c.165T>C (p.Thr55=) single nucleotide variant not provided [RCV002577936] Chr20:46122267 [GRCh38]
Chr20:44750906 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.257-16G>A single nucleotide variant not provided [RCV002630674] Chr20:46122594 [GRCh38]
Chr20:44751233 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.187G>C (p.Gly63Arg) single nucleotide variant not provided [RCV003009895] Chr20:46122289 [GRCh38]
Chr20:44750928 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.646+20G>A single nucleotide variant not provided [RCV002938588] Chr20:46128244 [GRCh38]
Chr20:44756883 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.49G>T (p.Ala17Ser) single nucleotide variant not provided [RCV002725847] Chr20:46118392 [GRCh38]
Chr20:44747031 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.780G>A (p.Pro260=) single nucleotide variant not provided [RCV002944149] Chr20:46128986 [GRCh38]
Chr20:44757625 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.12G>T (p.Leu4=) single nucleotide variant not provided [RCV002658193] Chr20:46118355 [GRCh38]
Chr20:44746994 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.553G>A (p.Val185Ile) single nucleotide variant not provided [RCV002588922] Chr20:46126695 [GRCh38]
Chr20:44755334 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.170C>T (p.Thr57Met) single nucleotide variant Hyper-IgM syndrome type 3 [RCV004765644]|not provided [RCV003050557] Chr20:46122272 [GRCh38]
Chr20:44750911 [GRCh37]
Chr20:20q13.12		 pathogenic|uncertain significance
NM_001250.6(CD40):c.187G>A (p.Gly63Ser) single nucleotide variant not provided [RCV002607931] Chr20:46122289 [GRCh38]
Chr20:44750928 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.386T>G (p.Phe129Cys) single nucleotide variant Inborn genetic diseases [RCV003191407] Chr20:46122739 [GRCh38]
Chr20:44751378 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.676-46C>T single nucleotide variant not provided [RCV003227113] Chr20:46128836 [GRCh38]
Chr20:44757475 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.630G>A (p.Leu210=) single nucleotide variant not provided [RCV003570762] Chr20:46128208 [GRCh38]
Chr20:44756847 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.132A>T (p.Gly44=) single nucleotide variant not provided [RCV003543566] Chr20:46122234 [GRCh38]
Chr20:44750873 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.132A>G (p.Gly44=) single nucleotide variant CD40-related disorder [RCV004756554]|not provided [RCV003872864] Chr20:46122234 [GRCh38]
Chr20:44750873 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.675+19C>G single nucleotide variant not provided [RCV003543048] Chr20:46128377 [GRCh38]
Chr20:44757016 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.560-119C>A single nucleotide variant not provided [RCV003431340] Chr20:46128019 [GRCh38]
Chr20:44756658 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.51+15C>T single nucleotide variant not provided [RCV003693133] Chr20:46118409 [GRCh38]
Chr20:44747048 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.675+12del deletion not provided [RCV003693084] Chr20:46128367 [GRCh38]
Chr20:44757006 [GRCh37]
Chr20:20q13.12		 benign
NM_001250.6(CD40):c.396G>A (p.Lys132=) single nucleotide variant not provided [RCV003578121] Chr20:46122749 [GRCh38]
Chr20:44751388 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.560-20T>G single nucleotide variant not provided [RCV003716017] Chr20:46128118 [GRCh38]
Chr20:44756757 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.130+14C>T single nucleotide variant not provided [RCV003831377] Chr20:46121912 [GRCh38]
Chr20:44750551 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.69C>T (p.Pro23=) single nucleotide variant not provided [RCV003692441] Chr20:46121837 [GRCh38]
Chr20:44750476 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.156A>T (p.Thr52=) single nucleotide variant not provided [RCV003694325] Chr20:46122258 [GRCh38]
Chr20:44750897 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.675+18A>G single nucleotide variant not provided [RCV003690183] Chr20:46128376 [GRCh38]
Chr20:44757015 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.497+1G>A single nucleotide variant not provided [RCV003713900] Chr20:46123220 [GRCh38]
Chr20:44751859 [GRCh37]
Chr20:20q13.12		 likely pathogenic
NM_001250.6(CD40):c.404-20C>G single nucleotide variant not provided [RCV003716331] Chr20:46123106 [GRCh38]
Chr20:44751745 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.9T>C (p.Arg3=) single nucleotide variant not provided [RCV003692065] Chr20:46118352 [GRCh38]
Chr20:44746991 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.240C>T (p.His80=) single nucleotide variant not provided [RCV003695602] Chr20:46122342 [GRCh38]
Chr20:44750981 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.573G>A (p.Arg191=) single nucleotide variant not provided [RCV003574686] Chr20:46128151 [GRCh38]
Chr20:44756790 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.819G>T (p.Val273=) single nucleotide variant not provided [RCV003716555] Chr20:46129025 [GRCh38]
Chr20:44757664 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.676-4C>T single nucleotide variant not provided [RCV003830732] Chr20:46128878 [GRCh38]
Chr20:44757517 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.774C>T (p.Cys258=) single nucleotide variant not provided [RCV003712877] Chr20:46128980 [GRCh38]
Chr20:44757619 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.675+19C>A single nucleotide variant not provided [RCV003660371] Chr20:46128377 [GRCh38]
Chr20:44757016 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.498-30_498-11del deletion not provided [RCV003693567] Chr20:46126606..46126625 [GRCh38]
Chr20:44755245..44755264 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.429C>T (p.Cys143=) single nucleotide variant not provided [RCV003848832] Chr20:46123151 [GRCh38]
Chr20:44751790 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.52-10C>A single nucleotide variant not provided [RCV003573292] Chr20:46121810 [GRCh38]
Chr20:44750449 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.647-14_647-3del deletion not provided [RCV003880245] Chr20:46128305..46128316 [GRCh38]
Chr20:44756944..44756955 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.375C>T (p.Cys125=) single nucleotide variant not provided [RCV003689546] Chr20:46122728 [GRCh38]
Chr20:44751367 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.468T>G (p.Ser156=) single nucleotide variant not provided [RCV003575278] Chr20:46123190 [GRCh38]
Chr20:44751829 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.723T>C (p.Asp241=) single nucleotide variant not provided [RCV003575821] Chr20:46128929 [GRCh38]
Chr20:44757568 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.75A>G (p.Ala25=) single nucleotide variant not provided [RCV003830847] Chr20:46121843 [GRCh38]
Chr20:44750482 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.647-16_647-3del deletion not provided [RCV003687068] Chr20:46128305..46128318 [GRCh38]
Chr20:44756944..44756957 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.404-10C>T single nucleotide variant not provided [RCV003661536] Chr20:46123116 [GRCh38]
Chr20:44751755 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.45G>A (p.Leu15=) single nucleotide variant not provided [RCV003689112] Chr20:46118388 [GRCh38]
Chr20:44747027 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.372A>G (p.Ser124=) single nucleotide variant not provided [RCV003662264] Chr20:46122725 [GRCh38]
Chr20:44751364 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.438C>T (p.Cys146=) single nucleotide variant not provided [RCV003687797] Chr20:46123160 [GRCh38]
Chr20:44751799 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.257-19C>T single nucleotide variant not provided [RCV003689330] Chr20:46122591 [GRCh38]
Chr20:44751230 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.646+17G>C single nucleotide variant not provided [RCV003714960] Chr20:46128241 [GRCh38]
Chr20:44756880 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.646+1G>A single nucleotide variant not provided [RCV003662584] Chr20:46128225 [GRCh38]
Chr20:44756864 [GRCh37]
Chr20:20q13.12		 likely pathogenic
NM_001250.6(CD40):c.403+18G>T single nucleotide variant not provided [RCV003851442] Chr20:46122774 [GRCh38]
Chr20:44751413 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.94C>T (p.Leu32=) single nucleotide variant not provided [RCV003699200] Chr20:46121862 [GRCh38]
Chr20:44750501 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.403+11C>A single nucleotide variant not provided [RCV003659319] Chr20:46122767 [GRCh38]
Chr20:44751406 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.465A>G (p.Ser155=) single nucleotide variant not provided [RCV003834533] Chr20:46123187 [GRCh38]
Chr20:44751826 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.336G>C (p.Thr112=) single nucleotide variant not provided [RCV003835309] Chr20:46122689 [GRCh38]
Chr20:44751328 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.445G>A (p.Gly149Ser) single nucleotide variant not provided [RCV003665160] Chr20:46123167 [GRCh38]
Chr20:44751806 [GRCh37]
Chr20:20q13.12		 likely pathogenic|uncertain significance
NM_001250.6(CD40):c.734C>T (p.Ser245Phe) single nucleotide variant not provided [RCV003561359] Chr20:46128940 [GRCh38]
Chr20:44757579 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.498-14G>A single nucleotide variant not provided [RCV003856746] Chr20:46126626 [GRCh38]
Chr20:44755265 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.48C>T (p.Thr16=) single nucleotide variant not provided [RCV003837005] Chr20:46118391 [GRCh38]
Chr20:44747030 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.378G>A (p.Ser126=) single nucleotide variant not provided [RCV003840017] Chr20:46122731 [GRCh38]
Chr20:44751370 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.27C>G (p.Val9=) single nucleotide variant not provided [RCV003549236] Chr20:46118370 [GRCh38]
Chr20:44747009 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.384C>A (p.Gly128=) single nucleotide variant not provided [RCV003560407] Chr20:46122737 [GRCh38]
Chr20:44751376 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.676-14C>T single nucleotide variant not provided [RCV003817646] Chr20:46128868 [GRCh38]
Chr20:44757507 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.646+8C>T single nucleotide variant not provided [RCV003837614] Chr20:46128232 [GRCh38]
Chr20:44756871 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.771A>C (p.Gly257=) single nucleotide variant not provided [RCV003663804] Chr20:46128977 [GRCh38]
Chr20:44757616 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.257-8C>T single nucleotide variant not provided [RCV003669500] Chr20:46122602 [GRCh38]
Chr20:44751241 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.52-19T>C single nucleotide variant not provided [RCV003851914] Chr20:46121801 [GRCh38]
Chr20:44750440 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.441A>C (p.Pro147=) single nucleotide variant not provided [RCV003854447] Chr20:46123163 [GRCh38]
Chr20:44751802 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.459T>C (p.Asn153=) single nucleotide variant not provided [RCV003838082] Chr20:46123181 [GRCh38]
Chr20:44751820 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.120G>A (p.Leu40=) single nucleotide variant not provided [RCV003717093] Chr20:46121888 [GRCh38]
Chr20:44750527 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.336G>T (p.Thr112=) single nucleotide variant not provided [RCV003580957] Chr20:46122689 [GRCh38]
Chr20:44751328 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.51+16C>T single nucleotide variant not provided [RCV003665335] Chr20:46118410 [GRCh38]
Chr20:44747049 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.51+20A>G single nucleotide variant not provided [RCV003698379] Chr20:46118414 [GRCh38]
Chr20:44747053 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.647-20_647-19insC insertion not provided [RCV003835143] Chr20:46128310..46128311 [GRCh38]
Chr20:44756949..44756950 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.288C>A (p.Thr96=) single nucleotide variant not provided [RCV003724882] Chr20:46122641 [GRCh38]
Chr20:44751280 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.291A>G (p.Ser97=) single nucleotide variant not provided [RCV003672736] Chr20:46122644 [GRCh38]
Chr20:44751283 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.675+14G>C single nucleotide variant not provided [RCV003560636] Chr20:46128372 [GRCh38]
Chr20:44757011 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.256+16G>A single nucleotide variant not provided [RCV003712036] Chr20:46122374 [GRCh38]
Chr20:44751013 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.497+14T>C single nucleotide variant not provided [RCV003705955] Chr20:46123233 [GRCh38]
Chr20:44751872 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.675+9C>T single nucleotide variant not provided [RCV003840938] Chr20:46128367 [GRCh38]
Chr20:44757006 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.404-13C>A single nucleotide variant not provided [RCV003859429] Chr20:46123113 [GRCh38]
Chr20:44751752 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.546T>C (p.Thr182=) single nucleotide variant not provided [RCV003860210] Chr20:46126688 [GRCh38]
Chr20:44755327 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.78C>T (p.Cys26=) single nucleotide variant not provided [RCV003711680] Chr20:46121846 [GRCh38]
Chr20:44750485 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.165T>G (p.Thr55=) single nucleotide variant not provided [RCV003734265] Chr20:46122267 [GRCh38]
Chr20:44750906 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.201C>T (p.Phe67=) single nucleotide variant not provided [RCV003733341] Chr20:46122303 [GRCh38]
Chr20:44750942 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.810C>T (p.Arg270=) single nucleotide variant not provided [RCV003719277] Chr20:46129016 [GRCh38]
Chr20:44757655 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.559+12A>G single nucleotide variant not provided [RCV003674714] Chr20:46126713 [GRCh38]
Chr20:44755352 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.404-4C>G single nucleotide variant not provided [RCV003853768] Chr20:46123122 [GRCh38]
Chr20:44751761 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.560-4C>T single nucleotide variant not provided [RCV003733961] Chr20:46128134 [GRCh38]
Chr20:44756773 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.782T>C (p.Val261Ala) single nucleotide variant not provided [RCV003684291] Chr20:46128988 [GRCh38]
Chr20:44757627 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.256+20A>G single nucleotide variant not provided [RCV003867474] Chr20:46122378 [GRCh38]
Chr20:44751017 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.24C>T (p.Cys8=) single nucleotide variant not provided [RCV003871749] Chr20:46118367 [GRCh38]
Chr20:44747006 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.51+17C>T single nucleotide variant not provided [RCV003844767] Chr20:46118411 [GRCh38]
Chr20:44747050 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.676-13C>T single nucleotide variant not provided [RCV003566692] Chr20:46128869 [GRCh38]
Chr20:44757508 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.366C>T (p.His122=) single nucleotide variant not provided [RCV003842412] Chr20:46122719 [GRCh38]
Chr20:44751358 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.687C>G (p.Pro229=) single nucleotide variant not provided [RCV003675080] Chr20:46128893 [GRCh38]
Chr20:44757532 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.252C>T (p.Asp84=) single nucleotide variant not provided [RCV003866427] Chr20:46122354 [GRCh38]
Chr20:44750993 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.123C>T (p.Cys41=) single nucleotide variant not provided [RCV003734093] Chr20:46121891 [GRCh38]
Chr20:44750530 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.171G>A (p.Thr57=) single nucleotide variant not provided [RCV003865726] Chr20:46122273 [GRCh38]
Chr20:44750912 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.118T>C (p.Leu40=) single nucleotide variant not provided [RCV003823417] Chr20:46121886 [GRCh38]
Chr20:44750525 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.675+19C>T single nucleotide variant not provided [RCV003843219] Chr20:46128377 [GRCh38]
Chr20:44757016 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.237G>A (p.Gln79=) single nucleotide variant not provided [RCV003844385] Chr20:46122339 [GRCh38]
Chr20:44750978 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.525A>G (p.Gln175=) single nucleotide variant not provided [RCV003677141] Chr20:46126667 [GRCh38]
Chr20:44755306 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.51+19G>A single nucleotide variant not provided [RCV003678387] Chr20:46118413 [GRCh38]
Chr20:44747052 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.647-18T>A single nucleotide variant not provided [RCV003848047] Chr20:46128312 [GRCh38]
Chr20:44756951 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.646+7C>T single nucleotide variant not provided [RCV003556382] Chr20:46128231 [GRCh38]
Chr20:44756870 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.186C>T (p.Cys62=) single nucleotide variant not provided [RCV003819838] Chr20:46122288 [GRCh38]
Chr20:44750927 [GRCh37]
Chr20:20q13.12		 likely benign
NC_000020.10:g.(?_42223339)_(45362473_?)del deletion Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV004579451] Chr20:42223339..45362473 [GRCh37]
Chr20:20q13.12		 pathogenic
NC_000020.10:g.(?_44756757)_(44757679_?)del deletion not provided [RCV004579499] Chr20:44756757..44757679 [GRCh37]
Chr20:20q13.12		 uncertain significance
NC_000020.10:g.(?_44577592)_(45362473_?)del deletion not provided [RCV004580980] Chr20:44577592..45362473 [GRCh37]
Chr20:20q13.12		 pathogenic
NC_000020.10:g.(?_44519965)_(44751017_?)del AND Combined deficiency of sialidase deletion Combined deficiency of sialidase AND beta galactosidase [RCV004579405] Chr20:44519965..44751017 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_001250.6(CD40):c.673A>G (p.Lys225Glu) single nucleotide variant Inborn genetic diseases [RCV004606556] Chr20:46128356 [GRCh38]
Chr20:44756995 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.430G>C (p.Glu144Gln) single nucleotide variant Inborn genetic diseases [RCV004606557] Chr20:46123152 [GRCh38]
Chr20:44751791 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.209C>A (p.Thr70Asn) single nucleotide variant Inborn genetic diseases [RCV004967719] Chr20:46122311 [GRCh38]
Chr20:44750950 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.559+15A>G single nucleotide variant not provided [RCV005147138] Chr20:46126716 [GRCh38]
Chr20:44755355 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.430G>A (p.Glu144Lys) single nucleotide variant Hyper-IgM syndrome type 3 [RCV005088428] Chr20:46123152 [GRCh38]
Chr20:44751791 [GRCh37]
Chr20:20q13.12		 likely pathogenic
NM_001250.6(CD40):c.651G>T (p.Lys217Asn) single nucleotide variant not provided [RCV005065560] Chr20:46128334 [GRCh38]
Chr20:44756973 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.646+14dup duplication not provided [RCV005173623] Chr20:46128237..46128238 [GRCh38]
Chr20:44756876..44756877 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.287_297del (p.Thr96fs) deletion not provided [RCV005198951] Chr20:46122638..46122648 [GRCh38]
Chr20:44751277..44751287 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_001250.6(CD40):c.594C>T (p.Ile198=) single nucleotide variant not provided [RCV005121380] Chr20:46128172 [GRCh38]
Chr20:44756811 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.335C>A (p.Thr112Lys) single nucleotide variant not provided [RCV005186344] Chr20:46122688 [GRCh38]
Chr20:44751327 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.257-17_257-14del deletion not provided [RCV005077098] Chr20:46122591..46122594 [GRCh38]
Chr20:44751230..44751233 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.670A>G (p.Asn224Asp) single nucleotide variant not provided [RCV005075742] Chr20:46128353 [GRCh38]
Chr20:44756992 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.406A>G (p.Thr136Ala) single nucleotide variant not provided [RCV005108855] Chr20:46123128 [GRCh38]
Chr20:44751767 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_001250.6(CD40):c.768T>C (p.His256=) single nucleotide variant not provided [RCV005071623] Chr20:46128974 [GRCh38]
Chr20:44757613 [GRCh37]
Chr20:20q13.12		 likely benign
NM_001250.6(CD40):c.87del (p.Lys29fs) deletion not provided [RCV005123640] Chr20:46121851 [GRCh38]
Chr20:44750490 [GRCh37]
Chr20:20q13.12		 pathogenic
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR224hsa-miR-224-5pMirtarbaseexternal_infoMicroarray//qRT-PCRFunctional MTI (Weak)19475450

Predicted Target Of
Summary Value
Count of predictions:1937
Count of miRNA genes:776
Interacting mature miRNAs:912
Transcripts:ENST00000372276, ENST00000372285, ENST00000461171, ENST00000466205, ENST00000477696, ENST00000489304
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597037980GWAS1134054_Hrheumatoid arthritis QTL GWAS1134054 (human)4e-14rheumatoid arthritis204612061246120613Human
597022616GWAS1118690_Hrheumatoid arthritis QTL GWAS1118690 (human)2e-13mucocutaneous lymph node syndrome204611834346118344Human
597210120GWAS1306194_Hblood protein measurement QTL GWAS1306194 (human)3e-83blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)204611834346118344Human
597205257GWAS1301331_Hrheumatoid arthritis QTL GWAS1301331 (human)1e-16rheumatoid arthritis204611834346118344Human
597210123GWAS1306197_Hblood protein measurement QTL GWAS1306197 (human)4e-75blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)204611834346118344Human
597210124GWAS1306198_Hblood protein measurement QTL GWAS1306198 (human)4e-08blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)204611834346118344Human
596975232GWAS1094751_HCrohn's disease QTL GWAS1094751 (human)1e-13Crohn's disease204611834346118344Human
596951297GWAS1070816_Hmucocutaneous lymph node syndrome QTL GWAS1070816 (human)2e-13mucocutaneous lymph node syndrome204611834346118344Human
597122178GWAS1218252_Hrheumatoid arthritis, Crohn's disease QTL GWAS1218252 (human)9e-15intestine integrity trait (VT:0010554)204611834346118344Human
597267470GWAS1363544_Hrheumatoid arthritis QTL GWAS1363544 (human)0.000006rheumatoid arthritis204611834346118344Human
597210625GWAS1306699_Hblood protein measurement QTL GWAS1306699 (human)5e-13blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)204611834346118344Human
597275264GWAS1371338_Hrheumatoid arthritis QTL GWAS1371338 (human)9e-10rheumatoid arthritis204611834346118344Human
597029004GWAS1125078_Hrheumatoid arthritis QTL GWAS1125078 (human)3e-14rheumatoid arthritis204612061246120613Human
406959451GWAS608427_Hankylosing spondylitis, psoriasis, ulcerative colitis, Crohn's disease, sclerosing cholangitis QTL GWAS608427 (human)4e-12intestine integrity trait (VT:0010554)204611834346118344Human
597070988GWAS1167062_Hrheumatoid arthritis QTL GWAS1167062 (human)0.0000002rheumatoid arthritis204611930846119309Human
597210118GWAS1306192_Hblood protein measurement QTL GWAS1306192 (human)8e-120blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)204611834346118344Human
597275064GWAS1371138_Hrheumatoid arthritis, anti-citrullinated protein antibody seropositivity, rheumatoid factor seropositivity measurement QTL GWAS1371138 (human)3e-13rheumatoid arthritis, anti-citrullinated protein antibody seropositivity, rheumatoid factor seropositivity measurement204611834346118344Human
597047223GWAS1143297_Hneuroticism measurement QTL GWAS1143297 (human)2e-08neuroticism measurement204612876846128769Human
597210426GWAS1306500_Hblood protein measurement QTL GWAS1306500 (human)3e-19blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)204611834346118344Human
597275710GWAS1371784_Hrheumatoid arthritis QTL GWAS1371784 (human)4e-21rheumatoid arthritis204611834346118344Human
597280817GWAS1376891_Hrheumatoid arthritis QTL GWAS1376891 (human)3e-12rheumatoid arthritis204611834346118344Human
597073214GWAS1169288_Hmultiple sclerosis QTL GWAS1169288 (human)8e-16multiple sclerosis204611930846119309Human
406965225GWAS614201_Hrheumatoid arthritis QTL GWAS614201 (human)1e-16rheumatoid arthritis204612061246120613Human
597215411GWAS1311485_Htumor necrosis factor, receptor superfamily, member 5 measurement QTL GWAS1311485 (human)5e-47cytokine amount (VT:0008713)204612673746126738Human
597284788GWAS1380862_Htumor necrosis factor, receptor superfamily, member 5 measurement QTL GWAS1380862 (human)6e-16cytokine amount (VT:0008713)204611930846119309Human
597215413GWAS1311487_Htumor necrosis factor, receptor superfamily, member 5 measurement QTL GWAS1311487 (human)1e-414cytokine amount (VT:0008713)204611930846119309Human
407041132GWAS690108_Hchronic hepatitis B virus infection QTL GWAS690108 (human)3e-15chronic hepatitis B virus infection204611834346118344Human
597290152GWAS1386226_HCrohn's disease QTL GWAS1386226 (human)3e-08intestine integrity trait (VT:0010554)204611834346118344Human
406965363GWAS614339_Hrheumatoid arthritis QTL GWAS614339 (human)4e-18rheumatoid arthritis204612061246120613Human
1300007BP29_HBlood pressure QTL 29 (human)Blood pressurehypertension susceptibility203653600562536005Human
597270957GWAS1367031_Hrheumatoid arthritis, ACPA-positive rheumatoid arthritis, rheumatoid factor seropositivity measurement QTL GWAS1367031 (human)1e-08rheumatoid arthritis, ACPA-positive rheumatoid arthritis, rheumatoid factor seropositivity measurement204611834346118344Human
407131121GWAS780097_Hrheumatoid arthritis QTL GWAS780097 (human)8e-09rheumatoid arthritis204611930846119309Human
597276591GWAS1372665_Hrheumatoid arthritis, anti-citrullinated protein antibody seropositivity, rheumatoid factor seropositivity measurement QTL GWAS1372665 (human)1e-17rheumatoid arthritis, anti-citrullinated protein antibody seropositivity, rheumatoid factor seropositivity measurement204611834346118344Human
597138478GWAS1234552_HCD40 measurement QTL GWAS1234552 (human)3e-282CD40 measurement204611834346118344Human
597277220GWAS1373294_Hinsomnia QTL GWAS1373294 (human)8e-10insomnia204611834346118344Human
597289380GWAS1385454_Hinflammatory bowel disease QTL GWAS1385454 (human)3e-09inflammatory bowel disease204611834346118344Human
597210405GWAS1306479_Hlymphocyte count QTL GWAS1306479 (human)2e-27lymphocyte countblood lymphocyte count (CMO:0000031)204612061246120613Human
597113257GWAS1209331_Hsystemic lupus erythematosus QTL GWAS1209331 (human)1e-08systemic lupus erythematosus204611930846119309Human
597209944GWAS1306018_Hblood protein measurement QTL GWAS1306018 (human)6e-147blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)204611834346118344Human
597209947GWAS1306021_Hblood protein measurement QTL GWAS1306021 (human)2e-87blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)204611834346118344Human
597209563GWAS1305637_Hblood protein measurement QTL GWAS1305637 (human)5e-94blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)204611844746118448Human
597209950GWAS1306024_Hblood protein measurement QTL GWAS1306024 (human)6e-78blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)204611930846119309Human
597251422GWAS1347496_Hrheumatoid arthritis QTL GWAS1347496 (human)3e-09rheumatoid arthritis204611930846119309Human
597209555GWAS1305629_Hblood protein measurement QTL GWAS1305629 (human)7e-96blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)204611844746118448Human
597287764GWAS1383838_HCrohn's disease QTL GWAS1383838 (human)1e-13intestine integrity trait (VT:0010554)204611834346118344Human
597082049GWAS1178123_HCD40 measurement QTL GWAS1178123 (human)7e-15CD40 measurement204612061246120613Human
597180751GWAS1276825_Hlow affinity immunoglobulin epsilon Fc receptor measurement QTL GWAS1276825 (human)2e-13low affinity immunoglobulin epsilon Fc receptor measurement204612061246120613Human
597209538GWAS1305612_Hlymphocyte count QTL GWAS1305612 (human)5e-33lymphocyte countblood lymphocyte count (CMO:0000031)204611930846119309Human
597209412GWAS1305486_Hblood protein measurement QTL GWAS1305486 (human)2e-83blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)204611844746118448Human
597209414GWAS1305488_Hblood protein measurement QTL GWAS1305488 (human)4e-92blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)204611844746118448Human
597341636GWAS1437710_HCD40 measurement QTL GWAS1437710 (human)5e-19CD40 measurement204611930846119309Human
596975601GWAS1095120_HCrohn's disease QTL GWAS1095120 (human)3e-08Crohn's disease204611834346118344Human
597210227GWAS1306301_Hlymphocyte count QTL GWAS1306301 (human)7e-50lymphocyte countblood lymphocyte count (CMO:0000031)204611930846119309Human
597073007GWAS1169081_Hrheumatoid arthritis QTL GWAS1169081 (human)9e-11rheumatoid arthritis204611930846119309Human
407259068GWAS908044_Hinflammatory bowel disease QTL GWAS908044 (human)3e-08inflammatory bowel disease204611834346118344Human
597209956GWAS1306030_Hblood protein measurement QTL GWAS1306030 (human)3e-118blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)204611834346118344Human

Markers in Region
D19S247  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37193,139,982 - 3,140,202UniSTSGRCh37
Build 36193,090,982 - 3,091,202RGDNCBI36
Celera193,076,311 - 3,076,539RGD
Cytogenetic Map19p13.3UniSTS
HuRef192,908,753 - 2,909,009UniSTS
Marshfield Genetic Map199.84UniSTS
Marshfield Genetic Map199.84RGD
RH93708  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,755,487 - 44,755,610UniSTSGRCh37
Build 362044,188,894 - 44,189,017RGDNCBI36
Celera2041,466,945 - 41,467,068RGD
Cytogenetic Map20q12-q13.2UniSTS
HuRef2041,496,775 - 41,496,898UniSTS
GeneMap99-GB4 RH Map20257.44UniSTS
PMC259134P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,756,977 - 44,757,654UniSTSGRCh37
Build 362044,190,384 - 44,191,061RGDNCBI36
Celera2041,468,435 - 41,469,112RGD
Cytogenetic Map20q12-q13.2UniSTS
HuRef2041,498,267 - 41,498,944UniSTS
PMC60102P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,746,855 - 44,747,070UniSTSGRCh37
Build 362044,180,262 - 44,180,477RGDNCBI36
Celera2041,458,312 - 41,458,527RGD
Cytogenetic Map20q12-q13.2UniSTS
HuRef2041,488,138 - 41,488,353UniSTS
PMC60102P10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,757,457 - 44,757,735UniSTSGRCh37
Build 362044,190,864 - 44,191,142RGDNCBI36
Celera2041,468,915 - 41,469,193RGD
Cytogenetic Map20q12-q13.2UniSTS
HuRef2041,498,747 - 41,499,025UniSTS
PMC60102P11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,751,436 - 44,751,998UniSTSGRCh37
Build 362044,184,843 - 44,185,405RGDNCBI36
Celera2041,462,894 - 41,463,456RGD
Cytogenetic Map20q12-q13.2UniSTS
HuRef2041,492,721 - 41,493,283UniSTS
PMC60102P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,750,399 - 44,750,584UniSTSGRCh37
Build 362044,183,806 - 44,183,991RGDNCBI36
Celera2041,461,857 - 41,462,042RGD
Cytogenetic Map20q12-q13.2UniSTS
HuRef2041,491,684 - 41,491,869UniSTS
PMC60102P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,750,813 - 44,751,062UniSTSGRCh37
Build 362044,184,220 - 44,184,469RGDNCBI36
Celera2041,462,271 - 41,462,520RGD
Cytogenetic Map20q12-q13.2UniSTS
HuRef2041,492,098 - 41,492,347UniSTS
PMC60102P4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,751,156 - 44,751,453UniSTSGRCh37
Build 362044,184,563 - 44,184,860RGDNCBI36
Celera2041,462,614 - 41,462,911RGD
Cytogenetic Map20q12-q13.2UniSTS
HuRef2041,492,441 - 41,492,738UniSTS
PMC60102P5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,751,719 - 44,751,998UniSTSGRCh37
Build 362044,185,126 - 44,185,405RGDNCBI36
Celera2041,463,177 - 41,463,456RGD
Cytogenetic Map20q12-q13.2UniSTS
HuRef2041,493,004 - 41,493,283UniSTS
PMC60102P6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,755,145 - 44,755,382UniSTSGRCh37
Build 362044,188,552 - 44,188,789RGDNCBI36
Celera2041,466,603 - 41,466,840RGD
Cytogenetic Map20q12-q13.2UniSTS
HuRef2041,496,433 - 41,496,670UniSTS
PMC60102P7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,756,725 - 44,756,924UniSTSGRCh37
Build 362044,190,132 - 44,190,331RGDNCBI36
Celera2041,468,183 - 41,468,382RGD
Cytogenetic Map20q12-q13.2UniSTS
HuRef2041,498,013 - 41,498,212UniSTS
PMC60102P9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,756,725 - 44,757,078UniSTSGRCh37
Build 362044,190,132 - 44,190,485RGDNCBI36
Celera2041,468,183 - 41,468,536RGD
Cytogenetic Map20q12-q13.2UniSTS
HuRef2041,498,013 - 41,498,368UniSTS
STS-R49884  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,757,778 - 44,757,927UniSTSGRCh37
Build 362044,191,185 - 44,191,334RGDNCBI36
Celera2041,469,236 - 41,469,385RGD
Cytogenetic Map20q12-q13.2UniSTS
HuRef2041,499,068 - 41,499,217UniSTS
GeneMap99-GB4 RH Map20257.34UniSTS
NCBI RH Map20441.6UniSTS
CD40_s5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,757,537 - 44,758,218UniSTSGRCh37
Celera2041,468,995 - 41,469,676UniSTS
HuRef2041,498,827 - 41,499,508UniSTS


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 2392 2788 2253 4922 1723 2313 5 621 1929 462 2252 7242 6447 48 3698 1 849 1738 1583 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001302753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_126502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ300189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY225405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY504960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM761221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX364284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX364285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS095651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS095653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS097318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS097320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS097717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS097719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS103051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS103053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS362569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS362571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS415595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS415597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS415607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS415609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS458150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS458152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS458177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS458179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ871604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF064754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB293281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB293283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GM980682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GM980684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB386506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB386508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC324854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC324856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC728083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH930542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH930544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI594042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI594044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI594054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI594056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI651118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI651120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI921882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI921884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY063089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY088000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA086558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA086560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB368781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB368783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X87626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000372276   ⟹   ENSP00000361350
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,118,316 - 46,129,863 (+)Ensembl
Ensembl Acc Id: ENST00000372285   ⟹   ENSP00000361359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,118,314 - 46,129,858 (+)Ensembl
Ensembl Acc Id: ENST00000461171
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,122,318 - 46,127,161 (+)Ensembl
Ensembl Acc Id: ENST00000466205   ⟹   ENSP00000434825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,118,348 - 46,129,126 (+)Ensembl
Ensembl Acc Id: ENST00000477696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,118,344 - 46,129,004 (+)Ensembl
Ensembl Acc Id: ENST00000489304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,118,344 - 46,129,863 (+)Ensembl
Ensembl Acc Id: ENST00000620709   ⟹   ENSP00000484074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,118,278 - 46,129,659 (+)Ensembl
Ensembl Acc Id: ENST00000695669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,118,271 - 46,123,834 (+)Ensembl
Ensembl Acc Id: ENST00000695670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,118,285 - 46,128,358 (+)Ensembl
Ensembl Acc Id: ENST00000695671   ⟹   ENSP00000512093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,118,328 - 46,128,358 (+)Ensembl
Ensembl Acc Id: ENST00000695672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,118,340 - 46,128,023 (+)Ensembl
Ensembl Acc Id: ENST00000695673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,122,238 - 46,124,219 (+)Ensembl
Ensembl Acc Id: ENST00000695674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,125,664 - 46,128,358 (+)Ensembl
Ensembl Acc Id: ENST00000695675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2046,125,703 - 46,129,669 (+)Ensembl
RefSeq Acc Id: NM_001250   ⟹   NP_001241
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,118,314 - 46,129,858 (+)NCBI
GRCh372044,746,899 - 44,758,384 (+)NCBI
Build 362044,180,313 - 44,191,791 (+)NCBI Archive
HuRef2041,488,189 - 41,499,674 (+)ENTREZGENE
CHM1_12044,649,527 - 44,661,003 (+)NCBI
T2T-CHM13v2.02047,854,355 - 47,865,910 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001302753   ⟹   NP_001289682
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,118,314 - 46,129,858 (+)NCBI
CHM1_12044,649,527 - 44,661,003 (+)NCBI
T2T-CHM13v2.02047,854,355 - 47,865,910 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322421   ⟹   NP_001309350
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,118,314 - 46,129,858 (+)NCBI
CHM1_12044,649,527 - 44,661,003 (+)NCBI
T2T-CHM13v2.02047,854,355 - 47,865,910 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322422   ⟹   NP_001309351
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,118,314 - 46,129,858 (+)NCBI
CHM1_12044,649,527 - 44,661,003 (+)NCBI
T2T-CHM13v2.02047,854,355 - 47,865,910 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001362758   ⟹   NP_001349687
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,118,314 - 46,129,858 (+)NCBI
T2T-CHM13v2.02047,854,355 - 47,865,910 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001424339   ⟹   NP_001411268
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,118,314 - 46,129,858 (+)NCBI
T2T-CHM13v2.02047,854,355 - 47,865,910 (+)NCBI
RefSeq Acc Id: NM_152854   ⟹   NP_690593
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,118,314 - 46,129,858 (+)NCBI
GRCh372044,746,899 - 44,758,384 (+)NCBI
Build 362044,180,313 - 44,191,791 (+)NCBI Archive
HuRef2041,488,189 - 41,499,674 (+)ENTREZGENE
CHM1_12044,649,527 - 44,661,003 (+)NCBI
T2T-CHM13v2.02047,854,355 - 47,865,910 (+)NCBI
Sequence:
RefSeq Acc Id: NR_126502
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,118,314 - 46,129,858 (+)NCBI
CHM1_12044,649,527 - 44,661,003 (+)NCBI
T2T-CHM13v2.02047,854,355 - 47,865,910 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136327
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,118,314 - 46,129,858 (+)NCBI
CHM1_12044,649,527 - 44,661,003 (+)NCBI
T2T-CHM13v2.02047,854,355 - 47,865,910 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529109   ⟹   XP_011527411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,118,314 - 46,127,161 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028135   ⟹   XP_016883624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,118,314 - 46,129,858 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028136   ⟹   XP_016883625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,118,314 - 46,129,858 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047440601   ⟹   XP_047296557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,122,621 - 46,129,858 (+)NCBI
RefSeq Acc Id: XM_054324242   ⟹   XP_054180217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02047,854,355 - 47,865,910 (+)NCBI
RefSeq Acc Id: XM_054324243   ⟹   XP_054180218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02047,854,355 - 47,865,910 (+)NCBI
RefSeq Acc Id: XM_054324245   ⟹   XP_054180220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02047,858,664 - 47,865,910 (+)NCBI
RefSeq Acc Id: XM_054324246   ⟹   XP_054180221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02047,854,355 - 47,863,213 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001241 (Get FASTA)   NCBI Sequence Viewer  
  NP_001289682 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309350 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309351 (Get FASTA)   NCBI Sequence Viewer  
  NP_001349687 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411268 (Get FASTA)   NCBI Sequence Viewer  
  NP_690593 (Get FASTA)   NCBI Sequence Viewer  
  XP_011527411 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883624 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883625 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296557 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180217 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180218 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180220 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180221 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH12419 (Get FASTA)   NCBI Sequence Viewer  
  AAH64518 (Get FASTA)   NCBI Sequence Viewer  
  AAO43990 (Get FASTA)   NCBI Sequence Viewer  
  AAR84238 (Get FASTA)   NCBI Sequence Viewer  
  AAV38704 (Get FASTA)   NCBI Sequence Viewer  
  ABI49511 (Get FASTA)   NCBI Sequence Viewer  
  ABK41937 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33424 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33425 (Get FASTA)   NCBI Sequence Viewer  
  BAD92897 (Get FASTA)   NCBI Sequence Viewer  
  BAD96616 (Get FASTA)   NCBI Sequence Viewer  
  CAC29424 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00027 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00028 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00033 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00034 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00124 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00125 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00728 (Get FASTA)   NCBI Sequence Viewer  
  CAJ00729 (Get FASTA)   NCBI Sequence Viewer  
  CAL31951 (Get FASTA)   NCBI Sequence Viewer  
  CAL31952 (Get FASTA)   NCBI Sequence Viewer  
  CAL47757 (Get FASTA)   NCBI Sequence Viewer  
  CAL47758 (Get FASTA)   NCBI Sequence Viewer  
  CAL47760 (Get FASTA)   NCBI Sequence Viewer  
  CAL47761 (Get FASTA)   NCBI Sequence Viewer  
  CAL99221 (Get FASTA)   NCBI Sequence Viewer  
  CAL99222 (Get FASTA)   NCBI Sequence Viewer  
  CAL99226 (Get FASTA)   NCBI Sequence Viewer  
  CAL99227 (Get FASTA)   NCBI Sequence Viewer  
  CAQ64629 (Get FASTA)   NCBI Sequence Viewer  
  CAQ64630 (Get FASTA)   NCBI Sequence Viewer  
  CAX20923 (Get FASTA)   NCBI Sequence Viewer  
  CAX20924 (Get FASTA)   NCBI Sequence Viewer  
  CAZ64457 (Get FASTA)   NCBI Sequence Viewer  
  CAZ64458 (Get FASTA)   NCBI Sequence Viewer  
  CBJ55369 (Get FASTA)   NCBI Sequence Viewer  
  CBJ55370 (Get FASTA)   NCBI Sequence Viewer  
  CBL93995 (Get FASTA)   NCBI Sequence Viewer  
  CBX32768 (Get FASTA)   NCBI Sequence Viewer  
  CBX32769 (Get FASTA)   NCBI Sequence Viewer  
  CBX55113 (Get FASTA)   NCBI Sequence Viewer  
  CBX55114 (Get FASTA)   NCBI Sequence Viewer  
  CBX55116 (Get FASTA)   NCBI Sequence Viewer  
  CBX55117 (Get FASTA)   NCBI Sequence Viewer  
  CBX89251 (Get FASTA)   NCBI Sequence Viewer  
  CBX89252 (Get FASTA)   NCBI Sequence Viewer  
  CBY65289 (Get FASTA)   NCBI Sequence Viewer  
  CBY65290 (Get FASTA)   NCBI Sequence Viewer  
  CCA63957 (Get FASTA)   NCBI Sequence Viewer  
  CCA63958 (Get FASTA)   NCBI Sequence Viewer  
  CDH93531 (Get FASTA)   NCBI Sequence Viewer  
  CDH93532 (Get FASTA)   NCBI Sequence Viewer  
  EAW75757 (Get FASTA)   NCBI Sequence Viewer  
  EAW75758 (Get FASTA)   NCBI Sequence Viewer  
  EAW75759 (Get FASTA)   NCBI Sequence Viewer  
  EAW75760 (Get FASTA)   NCBI Sequence Viewer  
  EAW75761 (Get FASTA)   NCBI Sequence Viewer  
  EAW75762 (Get FASTA)   NCBI Sequence Viewer  
  EAW75763 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000361350
  ENSP00000361350.3
  ENSP00000361359
  ENSP00000361359.3
  ENSP00000434825
  ENSP00000434825.1
  ENSP00000484074.1
  ENSP00000512093
  ENSP00000512093.1
  ENSP00000512095.1
  ENSP00000512096
  ENSP00000512096.1
GenBank Protein P25942 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001241   ⟸   NM_001250
- Peptide Label: isoform 1 precursor
- UniProtKB: Q86YK5 (UniProtKB/Swiss-Prot),   Q7M4Q8 (UniProtKB/Swiss-Prot),   Q5U007 (UniProtKB/Swiss-Prot),   Q5JY15 (UniProtKB/Swiss-Prot),   Q53GN5 (UniProtKB/Swiss-Prot),   E1P5S9 (UniProtKB/Swiss-Prot),   Q9BYU0 (UniProtKB/Swiss-Prot),   P25942 (UniProtKB/Swiss-Prot),   A0A0S2Z3C7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_690593   ⟸   NM_152854
- Peptide Label: isoform 2 precursor
- UniProtKB: A0A8Q3WKP3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001289682   ⟸   NM_001302753
- Peptide Label: isoform 3 precursor
- UniProtKB: A0A8Q3SI60 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011527411   ⟸   XM_011529109
- Peptide Label: isoform X5
- UniProtKB: H0YE23 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309350   ⟸   NM_001322421
- Peptide Label: isoform 4 precursor
- Sequence:
RefSeq Acc Id: NP_001309351   ⟸   NM_001322422
- Peptide Label: isoform 5 precursor
- UniProtKB: A0A0S2Z349 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016883624   ⟸   XM_017028135
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016883625   ⟸   XM_017028136
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001349687   ⟸   NM_001362758
- Peptide Label: isoform 6 precursor
- UniProtKB: A0A8Q3WKP3 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000484074   ⟸   ENST00000620709
Ensembl Acc Id: ENSP00000361350   ⟸   ENST00000372276
Ensembl Acc Id: ENSP00000361359   ⟸   ENST00000372285
Ensembl Acc Id: ENSP00000434825   ⟸   ENST00000466205
Ensembl Acc Id: ENSP00000512093   ⟸   ENST00000695671
RefSeq Acc Id: XP_047296557   ⟸   XM_047440601
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054180217   ⟸   XM_054324242
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054180218   ⟸   XM_054324243
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054180221   ⟸   XM_054324246
- Peptide Label: isoform X5
- UniProtKB: H0YE23 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054180220   ⟸   XM_054324245
- Peptide Label: isoform X4
RefSeq Acc Id: NP_001411268   ⟸   NM_001424339
- Peptide Label: isoform 7 precursor
Protein Domains
TNFR-Cys

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P25942-F1-model_v2 AlphaFold P25942 1-277 view protein structure

Promoters
RGD ID:6798592
Promoter ID:HG_KWN:39660
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:ENST00000279061,   ENST00000372278,   OTTHUMT00000080376,   OTTHUMT00000080377,   OTTHUMT00000080378,   OTTHUMT00000080380,   UC002XRF.1,   UC002XRI.1,   UC002XRJ.1,   UC002XRK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362044,180,099 - 44,180,599 (+)MPROMDB
RGD ID:6798586
Promoter ID:HG_KWN:39661
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000080379
Position:
Human AssemblyChrPosition (strand)Source
Build 362044,183,501 - 44,184,797 (+)MPROMDB
RGD ID:6812022
Promoter ID:HG_ACW:49442
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:CD40.KAPR07-UNSPLICED,   CD40.MAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 362044,187,546 - 44,188,046 (+)MPROMDB
RGD ID:6798588
Promoter ID:HG_KWN:39662
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:UC002XRL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362044,189,461 - 44,190,662 (+)MPROMDB
RGD ID:13207149
Promoter ID:EPDNEW_H27155
Type:initiation region
Name:CD40_1
Description:CD40 molecule
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382046,118,314 - 46,118,374EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11919 AgrOrtholog
COSMIC CD40 COSMIC
Ensembl Genes ENSG00000101017 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000372276 ENTREZGENE
  ENST00000372276.7 UniProtKB/Swiss-Prot
  ENST00000372285 ENTREZGENE
  ENST00000372285.8 UniProtKB/Swiss-Prot
  ENST00000466205 ENTREZGENE
  ENST00000466205.5 UniProtKB/TrEMBL
  ENST00000477696.6 UniProtKB/TrEMBL
  ENST00000489304 ENTREZGENE
  ENST00000489304.6 UniProtKB/TrEMBL
  ENST00000620709 ENTREZGENE
  ENST00000620709.4 UniProtKB/TrEMBL
  ENST00000695671 ENTREZGENE
  ENST00000695671.1 UniProtKB/TrEMBL
Gene3D-CATH Tumor Necrosis Factor Receptor, subunit A, domain 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000101017 GTEx
HGNC ID HGNC:11919 ENTREZGENE
Human Proteome Map CD40 Human Proteome Map
InterPro TNFR/NGFR_Cys_rich_reg UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNFR_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNFRSF5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNFRSF5_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:958 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 958 ENTREZGENE
OMIM 109535 OMIM
PANTHER TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY MEMBER 5 UniProtKB/Swiss-Prot
  TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY MEMBER 5 UniProtKB/Swiss-Prot
  TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY MEMBER 5 UniProtKB/TrEMBL
  TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY MEMBER 5 UniProtKB/TrEMBL
Pfam TNFR_c6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36612 PharmGKB
PRINTS TNFACTORR5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TNFR_NGFR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNFR_NGFR_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TNFR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP TNF receptor-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087X1D0_HUMAN UniProtKB/TrEMBL
  A0A0S2Z349 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z3C7 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3SI60 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3WKP3 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3WKP7_HUMAN UniProtKB/TrEMBL
  E1P5S9 ENTREZGENE
  H0YE23 ENTREZGENE, UniProtKB/TrEMBL
  P25942 ENTREZGENE
  Q53GN5 ENTREZGENE
  Q5JY15 ENTREZGENE
  Q5U007 ENTREZGENE
  Q6P2H9_HUMAN UniProtKB/TrEMBL
  Q7M4Q8 ENTREZGENE
  Q86YK5 ENTREZGENE
  Q9BYU0 ENTREZGENE
  TNR5_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary E1P5S9 UniProtKB/Swiss-Prot
  Q53GN5 UniProtKB/Swiss-Prot
  Q5JY15 UniProtKB/Swiss-Prot
  Q5U007 UniProtKB/Swiss-Prot
  Q7M4Q8 UniProtKB/Swiss-Prot
  Q86YK5 UniProtKB/Swiss-Prot
  Q9BYU0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 CD40  CD40 molecule  CD40  CD40 molecule, TNF receptor superfamily member 5  Symbol and/or name change 5135510 APPROVED