CD40LG (CD40 ligand) - Rat Genome Database

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Gene: CD40LG (CD40 ligand) Homo sapiens
Analyze
Symbol: CD40LG
Name: CD40 ligand
RGD ID: 1352959
HGNC Page HGNC
Description: Enables CD40 receptor binding activity and integrin binding activity. Involved in several processes, including cell surface receptor signaling pathway; positive regulation of cytokine production; and regulation of apoptotic process. Located in cell surface. Implicated in several diseases, including Kawasaki disease; autoimmune disease (multiple); combined T cell and B cell immunodeficiency (multiple); hematologic cancer (multiple); and lupus nephritis. Biomarker of several diseases, including allergic rhinitis; autoimmune disease (multiple); cardiovascular system disease (multiple); diabetes mellitus (multiple); and hematologic cancer (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CD154; CD40 antigen ligand; CD40-L; CD40L; gp39; hCD40L; HIGM1; IGM; IMD3; T-B cell-activating molecule; T-BAM; T-cell antigen Gp39; TNF-related activation protein; TNFSF5; TRAP; tumor necrosis factor (ligand) superfamily member 5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX136,648,158 - 136,660,390 (+)EnsemblGRCh38hg38GRCh38
GRCh38X136,648,158 - 136,660,390 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X135,730,317 - 135,742,549 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X135,558,002 - 135,570,215 (+)NCBINCBI36hg18NCBI36
Build 34X135,455,855 - 135,468,068NCBI
CeleraX136,094,012 - 136,106,224 (+)NCBI
Cytogenetic MapXq26.3NCBI
HuRefX125,001,305 - 125,013,640 (+)NCBIHuRef
CHM1_1X135,641,985 - 135,654,211 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acquired immunodeficiency syndrome  (ISO)
Acute Coronary Syndrome  (IEP)
acute lymphoblastic leukemia  (ISO)
allergic disease  (EXP)
allergic rhinitis  (IEP)
Alzheimer's disease  (IEP,ISO)
amyotrophic lateral sclerosis  (EXP,ISO)
anti-basement membrane glomerulonephritis  (ISO)
antiphospholipid syndrome  (IDA)
Aortic Valve, Calcification of  (ISO)
aplastic anemia  (IEP)
asthma  (ISO)
atherosclerosis  (IEP,ISO)
autistic disorder  (IAGP)
autoimmune disease  (EXP,ISO)
autoimmune thrombocytopenic purpura  (IDA,IEP,IMP,ISO)
B-Cell Chronic Lymphocytic Leukemia  (IMP)
Behcet's disease  (IEP)
Brain Injuries  (ISO)
cardiovascular system disease  (IEP)
carotid artery disease  (IEP)
CD40 ligand deficiency  (EXP,IAGP,IDA,ISO)
Cholangiofibrosis  (ISO)
Chromosome Breakage  (EXP)
Chromosome Xq26.3 Duplication Syndrome  (IAGP)
Chronic Allograft Dysfunction  (ISO)
chronic lymphocytic leukemia  (IEP)
Colonic Neoplasms  (ISO)
combined T cell and B cell immunodeficiency  (IAGP)
common variable immunodeficiency  (IAGP)
congestive heart failure  (IEP)
coronary artery disease  (EXP,IAGP,IEP,ISO)
Coronary Disease  (ISO)
crescentic glomerulonephritis  (ISO)
cutaneous lupus erythematosus  (IEP)
cystic fibrosis  (IEP)
dermatomyositis  (IEP)
diabetes mellitus  (IEP)
diabetic angiopathy  (IEP)
Diabetic Nephropathies  (IEP)
Discoid Lupus Erythematosus  (IEP)
dysgammaglobulinemia  (IAGP)
Ehrlich tumor carcinoma  (ISO)
end stage renal disease  (IEP)
eosinophilic esophagitis  (IEP)
erythema multiforme  (IEP)
essential thrombocythemia  (IEP)
Experimental Arthritis  (ISO)
Experimental Autoimmune Myasthenia Gravis  (ISO)
Experimental Autoimmune Neuritis  (ISO)
Experimental Autoimmune Uveoretinitis  (ISO)
Experimental Diabetes Mellitus  (ISO)
Experimental Liver Neoplasms  (ISO)
factor VIII deficiency  (ISO)
familial hyperlipidemia  (IEP)
Fibrosis  (ISO)
follicular lymphoma  (IMP)
genetic disease  (IAGP)
Graft vs Host Disease  (ISO)
granulomatosis with polyangiitis  (IEP)
Graves' disease  (IMP)
Hashimoto Disease  (IEP)
HELLP syndrome  (IEP)
hepatocellular carcinoma  (ISO)
herpes simplex  (ISO)
Hodgkin's lymphoma  (EXP)
human immunodeficiency virus infectious disease  (IDA)
hyper IgM syndrome  (IAGP)
Hypercholesterolemia  (IDA,ISO)
inflammatory bowel disease  (ISS)
Kawasaki disease  (IDA)
kidney disease  (ISO)
lichen planus  (IEP)
lupus nephritis  (IDA,IEP,IMP,ISO)
Lyme Neuroborreliosis  (IEP)
malaria  (ISO)
membranous glomerulonephritis  (ISO)
Metabolic Syndrome  (IEP)
Middle East respiratory syndrome  (ISO)
migraine  (IEP)
multiple myeloma  (IDA,IEP,ISO)
Murine Acquired Immunodeficiency Syndrome  (ISO)
myocardial infarction  (IEP)
Myocardial Ischemia  (ISO)
narcolepsy  (IEP)
Necrosis  (EXP)
nephrosis  (ISO)
obesity  (IEP,ISO)
ovarian disease  (ISO)
Ovarian Neoplasms  (ISO)
Overactive Urinary Bladder  (IEP)
pemphigus  (IEP)
perinatal necrotizing enterocolitis  (ISO)
periodontal disease  (ISO)
periodontitis  (IEP)
peritonitis  (ISO)
pneumonia  (EXP)
pre-eclampsia  (IEP,ISO)
Primary Graft Dysfunction  (ISO)
pulmonary hypertension  (EXP,ISO)
Reperfusion Injury  (ISO)
Sepsis  (ISO)
Shock  (IEP)
sickle cell anemia  (IEP)
Sjogren's syndrome  (IEP)
Subacute Combined Degeneration  (ISO)
syndromic X-linked intellectual disability Lubs type  (IAGP)
systemic lupus erythematosus  (EXP,IEP,ISO)
thrombocytopenia  (ISO)
thrombosis  (IEP,ISO)
tick-borne encephalitis  (IEP)
transient cerebral ischemia  (ISO)
Transplant Rejection  (IEP,ISO)
type 1 diabetes mellitus  (IEP,ISO)
type 2 diabetes mellitus  (IEP)
urinary bladder cancer  (ISO)
Vascular Calcification  (IEP)
Viral Myocarditis  (ISO)
visceral leishmaniasis  (ISO)
vitamin B12 deficiency  (ISO)
Wounds, Penetrating  (ISO)
X-linked hyper IgM syndrome  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R)-mevalonic acid  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3'-diindolylmethane  (EXP)
4-aminopyridine  (ISO)
5-fluorouracil  (EXP)
acetylsalicylic acid  (EXP)
ADP  (EXP,ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
asperentin  (ISO)
atorvastatin calcium  (EXP)
barium sulfate  (ISO)
benzo[a]pyrene  (EXP,ISO)
bezafibrate  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (ISO)
calcitriol  (EXP)
candesartan  (EXP)
carbon atom  (EXP)
ceric oxide  (ISO)
chlorpyrifos  (ISO)
cholesterol  (ISO)
cisplatin  (EXP,ISO)
clopidogrel  (EXP,ISO)
curcumin  (EXP)
DDE  (ISO)
diarsenic trioxide  (EXP)
dibenziodolium  (EXP)
dioxygen  (EXP)
dipyridamole  (EXP)
doxorubicin  (EXP)
elemental carbon  (EXP)
eptifibatide  (EXP)
ethanol  (ISO)
etoposide  (EXP)
fenofibrate  (EXP)
fingolimod hydrochloride  (EXP)
furan  (ISO)
Fusarenone X  (ISO)
gemcitabine  (EXP)
glutathione  (EXP)
glyphosate  (EXP)
heparin  (EXP)
hydrogen peroxide  (EXP)
hydroxychloroquine  (EXP)
hydroxysafflor yellow A  (ISO)
ionomycin  (ISO)
isoflurane  (ISO)
lipopolysaccharide  (ISO)
medroxyprogesterone acetate  (EXP)
metformin  (EXP)
mycophenolic acid  (ISO)
mycotoxin  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
neoechinulin A  (ISO)
nickel dichloride  (ISO)
ozone  (ISO)
p-menthan-3-ol  (EXP)
paclitaxel  (EXP)
pentobarbital  (ISO)
phorbol 13-acetate 12-myristate  (EXP,ISO)
quercetin  (EXP)
reactive oxygen species  (EXP)
resveratrol  (ISO)
rotenone  (EXP,ISO)
silicon dioxide  (ISO)
simvastatin  (EXP,ISO)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
sterigmatocystin  (ISO)
titanium dioxide  (ISO)
vemurafenib  (EXP)
vincaleukoblastine  (EXP)
vinclozolin  (ISO)
vinorelbine  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
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Additional References at PubMed
PMID:1280226   PMID:1281209   PMID:1385114   PMID:1427881   PMID:7516405   PMID:7532185   PMID:7537298   PMID:7541827   PMID:7543281   PMID:7586644   PMID:7678552   PMID:7679206  
PMID:7679801   PMID:7688562   PMID:7717401   PMID:7907793   PMID:7999797   PMID:8094231   PMID:8103673   PMID:8550833   PMID:8589998   PMID:8605945   PMID:8617933   PMID:8626375  
PMID:8889581   PMID:8907262   PMID:9150729   PMID:9468137   PMID:9605317   PMID:9746782   PMID:9873085   PMID:9922218   PMID:10085035   PMID:10510350   PMID:10647992   PMID:11042507  
PMID:11123305   PMID:11270473   PMID:11297035   PMID:11358428   PMID:11493450   PMID:11525169   PMID:11676606   PMID:11714772   PMID:11751888   PMID:11792121   PMID:11801648   PMID:11801691  
PMID:11816717   PMID:11817328   PMID:11818376   PMID:11826760   PMID:11865444   PMID:11875495   PMID:11891278   PMID:11902141   PMID:11902332   PMID:11918631   PMID:11922919   PMID:11964311  
PMID:11978801   PMID:11981870   PMID:11986259   PMID:12011072   PMID:12042657   PMID:12117904   PMID:12117990   PMID:12140747   PMID:12192302   PMID:12207328   PMID:12209602   PMID:12223522  
PMID:12352896   PMID:12379582   PMID:12423681   PMID:12427285   PMID:12460235   PMID:12477932   PMID:12509450   PMID:12574344   PMID:12592374   PMID:12605316   PMID:12626576   PMID:12646674  
PMID:12672403   PMID:12676191   PMID:12695287   PMID:12697681   PMID:12699408   PMID:12707303   PMID:12718765   PMID:12738634   PMID:12742991   PMID:12764232   PMID:12874247   PMID:12885753  
PMID:12952351   PMID:12955358   PMID:12960257   PMID:14611725   PMID:14617752   PMID:14623801   PMID:14662879   PMID:14687897   PMID:14734771   PMID:14742996   PMID:14760083   PMID:14764664  
PMID:14764743   PMID:14962968   PMID:14976003   PMID:14991615   PMID:15067037   PMID:15069543   PMID:15111558   PMID:15115688   PMID:15128830   PMID:15153777   PMID:15191945   PMID:15249506  
PMID:15277394   PMID:15302794   PMID:15307939   PMID:15315967   PMID:15345520   PMID:15489334   PMID:15674425   PMID:15741223   PMID:15753667   PMID:15795254   PMID:15868137   PMID:15872081  
PMID:16014560   PMID:16019685   PMID:16149136   PMID:16182391   PMID:16186418   PMID:16221206   PMID:16311023   PMID:16378074   PMID:16380494   PMID:16393964   PMID:16396693   PMID:16429138  
PMID:16464740   PMID:16498500   PMID:16504636   PMID:16545138   PMID:16570157   PMID:16741250   PMID:16777115   PMID:16780932   PMID:16797372   PMID:16888032   PMID:16893496   PMID:16936191  
PMID:16963006   PMID:16987056   PMID:17103120   PMID:17106168   PMID:17207965   PMID:17225862   PMID:17237414   PMID:17237447   PMID:17312171   PMID:17319699   PMID:17360404   PMID:17372166  
PMID:17392362   PMID:17403203   PMID:17414714   PMID:17433826   PMID:17459878   PMID:17469136   PMID:17562816   PMID:17619839   PMID:17675236   PMID:17703412   PMID:17716773   PMID:17805323  
PMID:17845713   PMID:17879023   PMID:17884785   PMID:17893433   PMID:17901373   PMID:17917707   PMID:17918746   PMID:17947713   PMID:18051214   PMID:18054068   PMID:18081708   PMID:18093816  
PMID:18156495   PMID:18180380   PMID:18196935   PMID:18217399   PMID:18260168   PMID:18281372   PMID:18339317   PMID:18349065   PMID:18349125   PMID:18373164   PMID:18481160   PMID:18548529  
PMID:18554599   PMID:18593367   PMID:18603231   PMID:18641098   PMID:18641297   PMID:18652769   PMID:18658029   PMID:18661398   PMID:18713981   PMID:18714535   PMID:18719603   PMID:18812691  
PMID:18827186   PMID:18835787   PMID:18849075   PMID:18945879   PMID:18946203   PMID:19023113   PMID:19056482   PMID:19101003   PMID:19120902   PMID:19170966   PMID:19184537   PMID:19201484  
PMID:19221099   PMID:19232335   PMID:19258923   PMID:19272596   PMID:19282610   PMID:19318922   PMID:19404646   PMID:19421221   PMID:19422822   PMID:19449444   PMID:19470255   PMID:19494299  
PMID:19520616   PMID:19541004   PMID:19564823   PMID:19575287   PMID:19590499   PMID:19656553   PMID:19675172   PMID:19707993   PMID:19723899   PMID:19735272   PMID:19755790   PMID:19811271  
PMID:19859083   PMID:19859091   PMID:19889024   PMID:19895673   PMID:19896127   PMID:19906505   PMID:19913121   PMID:19948975   PMID:20008286   PMID:20026377   PMID:20039299   PMID:20048211  
PMID:20071030   PMID:20107176   PMID:20133813   PMID:20153702   PMID:20174757   PMID:20211016   PMID:20230421   PMID:20301576   PMID:20380698   PMID:20456428   PMID:20457264   PMID:20459687  
PMID:20471683   PMID:20485444   PMID:20503287   PMID:20505142   PMID:20505144   PMID:20535218   PMID:20577873   PMID:20628086   PMID:20629665   PMID:20634492   PMID:20676835   PMID:20701912  
PMID:20734064   PMID:20811042   PMID:20811715   PMID:20832064   PMID:20846521   PMID:20881665   PMID:20978895   PMID:20980002   PMID:20980629   PMID:20981468   PMID:21071692   PMID:21075431  
PMID:21138731   PMID:21143381   PMID:21151195   PMID:21162213   PMID:21239998   PMID:21242519   PMID:21285457   PMID:21337550   PMID:21357544   PMID:21406105   PMID:21415255   PMID:21491121  
PMID:21567389   PMID:21605114   PMID:21616491   PMID:21696538   PMID:21788945   PMID:21873635   PMID:21898485   PMID:21958324   PMID:21967264   PMID:22024720   PMID:22058328   PMID:22100896  
PMID:22139839   PMID:22150414   PMID:22151659   PMID:22193914   PMID:22219050   PMID:22231486   PMID:22234746   PMID:22295117   PMID:22298164   PMID:22440854   PMID:22461623   PMID:22492089  
PMID:22512415   PMID:22532139   PMID:22552529   PMID:22593611   PMID:22608210   PMID:22689014   PMID:22702645   PMID:22731751   PMID:22750225   PMID:22802415   PMID:22820189   PMID:22889643  
PMID:22905203   PMID:22932804   PMID:22963373   PMID:22965071   PMID:22984080   PMID:23000501   PMID:23002440   PMID:23010537   PMID:23039889   PMID:23073798   PMID:23144702   PMID:23289765  
PMID:23299818   PMID:23325890   PMID:23340290   PMID:23382671   PMID:23426185   PMID:23434327   PMID:23456134   PMID:23457387   PMID:23479226   PMID:23538518   PMID:23555843   PMID:23561892  
PMID:23604864   PMID:23686494   PMID:23719298   PMID:23918987   PMID:24014238   PMID:24028208   PMID:24039784   PMID:24106272   PMID:24117612   PMID:24138005   PMID:24188324   PMID:24189063  
PMID:24236294   PMID:24351940   PMID:24375064   PMID:24418171   PMID:24418477   PMID:24631270   PMID:24635038   PMID:24657679   PMID:24745825   PMID:24747770   PMID:24751386   PMID:24768948  
PMID:24771985   PMID:24828787   PMID:24905579   PMID:24910175   PMID:24912008   PMID:24912812   PMID:24916315   PMID:24972599   PMID:25004625   PMID:25037197   PMID:25123332   PMID:25192781  
PMID:25268346   PMID:25287602   PMID:25301451   PMID:25367298   PMID:25375372   PMID:25403978   PMID:25514317   PMID:25608503   PMID:25648034   PMID:25748125   PMID:25752457   PMID:25765994  
PMID:25825037   PMID:25839125   PMID:25944664   PMID:25992978   PMID:26012640   PMID:26030673   PMID:26032866   PMID:26043172   PMID:26183367   PMID:26214492   PMID:26237513   PMID:26268734  
PMID:26279254   PMID:26313915   PMID:26545336   PMID:26576922   PMID:26577033   PMID:26706786   PMID:26719354   PMID:26903548   PMID:26934129   PMID:26986513   PMID:26994905   PMID:27031714  
PMID:27090943   PMID:27094978   PMID:27101095   PMID:27172386   PMID:27190986   PMID:27295448   PMID:27391025   PMID:27392528   PMID:27472092   PMID:27525421   PMID:27566833   PMID:27572328  
PMID:27576126   PMID:27681093   PMID:27725124   PMID:27753080   PMID:27837410   PMID:27869172   PMID:28267402   PMID:28333213   PMID:28339909   PMID:28352049   PMID:28421990   PMID:28455435  
PMID:28461568   PMID:28550400   PMID:28609750   PMID:28619427   PMID:28642174   PMID:28967229   PMID:28971904   PMID:29050818   PMID:29068360   PMID:29155846   PMID:29183724   PMID:29194343  
PMID:29367645   PMID:29499223   PMID:29518426   PMID:29761306   PMID:29780830   PMID:30078020   PMID:30081731   PMID:30082430   PMID:30408708   PMID:30502363   PMID:30511624   PMID:30681383  
PMID:30926559   PMID:30944836   PMID:31183392   PMID:31313080   PMID:31331973   PMID:31558283   PMID:31657119   PMID:31754970   PMID:31925706   PMID:31985724   PMID:32035135   PMID:32500460  
PMID:32513696   PMID:32745080   PMID:33406736   PMID:33560569   PMID:33584658  


Genomics

Comparative Map Data
CD40LG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX136,648,158 - 136,660,390 (+)EnsemblGRCh38hg38GRCh38
GRCh38X136,648,158 - 136,660,390 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X135,730,317 - 135,742,549 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X135,558,002 - 135,570,215 (+)NCBINCBI36hg18NCBI36
Build 34X135,455,855 - 135,468,068NCBI
CeleraX136,094,012 - 136,106,224 (+)NCBI
Cytogenetic MapXq26.3NCBI
HuRefX125,001,305 - 125,013,640 (+)NCBIHuRef
CHM1_1X135,641,985 - 135,654,211 (+)NCBICHM1_1
Cd40lg
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X56,257,503 - 56,269,402 (+)NCBIGRCm39mm39
GRCm39 EnsemblX56,257,503 - 56,269,402 (+)Ensembl
GRCm38X57,212,143 - 57,224,042 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX57,212,143 - 57,224,042 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X54,465,320 - 54,477,219 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X53,558,927 - 53,570,826 (+)NCBImm8
CeleraX43,689,623 - 43,701,548 (+)NCBICelera
Cytogenetic MapXA6NCBI
cM MapX31.21NCBI
Cd40lg
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X135,127,119 - 135,138,302 (+)NCBImRatBN7.2
mRatBN7.2 EnsemblX135,126,969 - 135,138,306 (+)Ensembl
Rnor_6.0X159,703,703 - 159,714,886 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX159,703,578 - 159,716,562 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X154,330,893 - 154,341,954 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X141,925,019 - 141,937,183 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X141,998,451 - 142,010,616 (+)NCBI
CeleraX143,160,596 - 143,171,765 (+)NCBICelera
Cytogenetic MapXq37NCBI
Cd40lg
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554898,465,164 - 8,477,746 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554898,465,571 - 8,477,714 (-)NCBIChiLan1.0ChiLan1.0
CD40LG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X136,042,849 - 136,055,158 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX136,042,849 - 136,058,202 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X125,776,138 - 125,788,820 (+)NCBIMhudiblu_PPA_v0panPan3
CD40LG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X107,001,421 - 107,023,007 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX107,010,890 - 107,023,006 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX92,832,126 - 92,844,241 (+)NCBI
ROS_Cfam_1.0X108,980,873 - 109,002,662 (+)NCBI
UMICH_Zoey_3.1X106,131,221 - 106,143,392 (+)NCBI
UNSW_CanFamBas_1.0X108,322,638 - 108,334,748 (+)NCBI
UU_Cfam_GSD_1.0X107,964,432 - 107,976,548 (+)NCBI
Cd40lg
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X104,994,220 - 105,007,112 (+)NCBI
SpeTri2.0NW_00493651310,607,617 - 10,620,403 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CD40LG
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX111,778,493 - 111,789,711 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X111,778,666 - 111,788,901 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X127,636,797 - 127,647,035 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CD40LG
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X111,655,301 - 111,667,602 (+)NCBI
ChlSab1.1 EnsemblX111,655,397 - 111,666,639 (+)Ensembl
Vero_WHO_p1.0NW_02366606549,341,810 - 49,354,077 (+)NCBI
Cd40lg
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462480810,472,028 - 10,484,407 (-)NCBI

Position Markers
GDB:204469  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,742,105 - 135,742,349UniSTSGRCh37
Build 36X135,569,771 - 135,570,015RGDNCBI36
CeleraX136,105,780 - 136,106,024RGD
Cytogenetic MapXq26UniSTS
HuRefX125,013,200 - 125,013,440UniSTS
DXS1256  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,732,629 - 135,732,826UniSTSGRCh37
Build 36X135,560,295 - 135,560,492RGDNCBI36
CeleraX136,096,305 - 136,096,502RGD
Cytogenetic MapXq26UniSTS
HuRefX125,003,597 - 125,003,794UniSTS
Camk2g  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,741,575 - 135,741,831UniSTSGRCh37
Build 36X135,569,241 - 135,569,497RGDNCBI36
CeleraX136,105,251 - 136,105,507RGD
HuRefX125,012,671 - 125,012,927UniSTS
GDB:340965  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,730,388 - 135,730,544UniSTSGRCh37
Build 36X135,558,054 - 135,558,210RGDNCBI36
CeleraX136,094,064 - 136,094,220RGD
Cytogenetic MapXq26UniSTS
HuRefX125,001,356 - 125,001,512UniSTS
GDB:340969  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,730,422 - 135,732,527UniSTSGRCh37
Build 36X135,558,088 - 135,560,193RGDNCBI36
CeleraX136,094,098 - 136,096,203RGD
Cytogenetic MapXq26UniSTS
HuRefX125,001,390 - 125,003,495UniSTS
GDB:340972  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,732,492 - 135,736,589UniSTSGRCh37
Build 36X135,560,158 - 135,564,255RGDNCBI36
CeleraX136,096,168 - 136,100,265RGD
Cytogenetic MapXq26UniSTS
HuRefX125,003,460 - 125,007,557UniSTS
GDB:340979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,736,560 - 135,738,546UniSTSGRCh37
Build 36X135,564,226 - 135,566,212RGDNCBI36
CeleraX136,100,236 - 136,102,222RGD
Cytogenetic MapXq26UniSTS
HuRefX125,007,528 - 125,009,642UniSTS
GDB:340987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,741,250 - 135,741,605UniSTSGRCh37
Build 36X135,568,916 - 135,569,271RGDNCBI36
CeleraX136,104,926 - 136,105,281RGD
Cytogenetic MapXq26UniSTS
HuRefX125,012,346 - 125,012,701UniSTS
PMC259134P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,742,319 - 135,742,488UniSTSGRCh37
Build 36X135,569,985 - 135,570,154RGDNCBI36
CeleraX136,105,994 - 136,106,163RGD
Cytogenetic MapXq26UniSTS
HuRefX125,013,410 - 125,013,579UniSTS
PMC86001P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,741,303 - 135,741,425UniSTSGRCh37
Build 36X135,568,969 - 135,569,091RGDNCBI36
CeleraX136,104,979 - 136,105,101RGD
Cytogenetic MapXq26UniSTS
HuRefX125,012,399 - 125,012,521UniSTS
TNFSF5_272  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,741,699 - 135,742,567UniSTSGRCh37
Build 36X135,569,365 - 135,570,233RGDNCBI36
CeleraX136,105,375 - 136,106,242RGD
HuRefX125,012,795 - 125,013,658UniSTS
G10615  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,742,100 - 135,742,233UniSTSGRCh37
Build 36X135,569,766 - 135,569,899RGDNCBI36
CeleraX136,105,775 - 136,105,908RGD
Cytogenetic MapXq26UniSTS
HuRefX125,013,195 - 125,013,328UniSTS
DXS8200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,731,876 - 135,731,953UniSTSGRCh37
Build 36X135,559,542 - 135,559,619RGDNCBI36
CeleraX136,095,552 - 136,095,629RGD
Cytogenetic MapXq26UniSTS
HuRefX125,002,844 - 125,002,921UniSTS
RH17600  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,742,324 - 135,742,472UniSTSGRCh37
Build 36X135,569,990 - 135,570,138RGDNCBI36
CeleraX136,105,999 - 136,106,147RGD
Cytogenetic MapXq26UniSTS
HuRefX125,013,415 - 125,013,563UniSTS
GeneMap99-GB4 RH MapX320.0UniSTS
CD40LG  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,741,266 - 135,741,468UniSTSGRCh37
CeleraX136,104,942 - 136,105,144UniSTS
HuRefX125,012,362 - 125,012,564UniSTS
GDB:340983  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq26UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR146Ahsa-miR-146a-5pMirtarbaseexternal_infoELISA//Luciferase reporter assay//qRT-PCR//WesternFunctional MTI21236257

Predicted Target Of
Summary Value
Count of predictions:1358
Count of miRNA genes:642
Interacting mature miRNAs:706
Transcripts:ENST00000370628, ENST00000370629
Prediction methods:Miranda, Pita, Pita,Targetscan, 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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 49 175 9 1 301 1 1 2 27 2
Low 839 1048 673 233 1034 177 1489 111 299 174 514 1100 55 865 697 2
Below cutoff 1315 1454 904 358 194 254 2266 1587 1969 171 752 258 104 332 1771 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB897731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF268888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF529195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL135783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY197739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ859998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS398757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS458154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS458181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D31797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D50607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ119668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF064753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FN298241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GN344043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI658768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L07414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L47983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S66178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X67878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X68550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X96710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z15017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000370628   ⟹   ENSP00000359662
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,648,227 - 136,660,390 (+)Ensembl
RefSeq Acc Id: ENST00000370629   ⟹   ENSP00000359663
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,648,158 - 136,660,390 (+)Ensembl
RefSeq Acc Id: NM_000074   ⟹   NP_000065
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,648,158 - 136,660,390 (+)NCBI
GRCh37X135,730,281 - 135,742,549 (+)NCBI
Build 36X135,558,002 - 135,570,215 (+)NCBI Archive
HuRefX125,001,305 - 125,013,640 (+)ENTREZGENE
CHM1_1X135,641,985 - 135,654,211 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000065   ⟸   NM_000074
- UniProtKB: P29965 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000359662   ⟸   ENST00000370628
RefSeq Acc Id: ENSP00000359663   ⟸   ENST00000370629
Protein Domains
TNF_2

Promoters
RGD ID:6808563
Promoter ID:HG_KWN:68215
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:ENST00000370628,   NM_000074
Position:
Human AssemblyChrPosition (strand)Source
Build 36X135,557,771 - 135,558,271 (+)MPROMDB
RGD ID:13628224
Promoter ID:EPDNEW_H29387
Type:initiation region
Name:CD40LG_1
Description:CD40 ligand
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,648,182 - 136,648,242EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000074.3(CD40LG):c.346+1del deletion not provided [RCV000519149] ChrX:136654430 [GRCh38]
ChrX:135736589 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
CD40LG, THR211ASP variation Hyper-IgM syndrome type 1 [RCV000011911] ChrX:Xq26 pathogenic
NM_000074.3(CD40LG):c.349_409+2del deletion Hyper-IgM syndrome type 1 [RCV000011915] ChrX:Xq26 pathogenic
CD40LG, 8-BP DEL deletion Hyper-IgM syndrome type 1 [RCV000011916] ChrX:Xq26 pathogenic
CD40LG, 10-BP DEL deletion Hyper-IgM syndrome type 1 [RCV000011917] ChrX:Xq26 pathogenic
CD40LG, 1-BP INS, TTT-TTTT, FS84TER insertion Hyper-IgM syndrome type 1 [RCV000011919] ChrX:Xq26 pathogenic
CD40LG, ALU INS, EX1 insertion Hyper-IgM syndrome type 1 [RCV000011920] ChrX:Xq26 pathogenic
NM_000074.2(CD40LG):c.189del (p.Phe63fs) deletion Hyper-IgM syndrome type 1 [RCV000029463] ChrX:136650295 [GRCh38]
ChrX:135732454 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000074.2(CD40LG):c.31C>T (p.Arg11Ter) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000029464]|not provided [RCV001092164]|not specified [RCV000507366] ChrX:136648279 [GRCh38]
ChrX:135730438 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.2(CD40LG):c.655G>A (p.Gly219Arg) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000029465]|not specified [RCV000358482] ChrX:136659284 [GRCh38]
ChrX:135741443 [GRCh37]
ChrX:Xq26.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000074.2(CD40LG):c.761C>T (p.Thr254Met) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000029466]|Hyperimmunoglobulin M syndrome [RCV000588005] ChrX:136659390 [GRCh38]
ChrX:135741549 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.2(CD40LG):c.703G>C (p.Ala235Pro) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000011907] ChrX:136659332 [GRCh38]
ChrX:135741491 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.2(CD40LG):c.680G>T (p.Gly227Val) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000011909] ChrX:136659309 [GRCh38]
ChrX:135741468 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.2(CD40LG):c.464T>C (p.Leu155Pro) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000011910]|not provided [RCV001507548] ChrX:136659093 [GRCh38]
ChrX:135741252 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.2(CD40LG):c.107T>G (p.Met36Arg) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000011912] ChrX:136648355 [GRCh38]
ChrX:135730514 [GRCh37]
ChrX:Xq26.3
pathogenic|likely pathogenic
NM_000074.2(CD40LG):c.419G>A (p.Trp140Ter) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000011913] ChrX:136659048 [GRCh38]
ChrX:135741207 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.2(CD40LG):c.418T>G (p.Trp140Gly) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000011914]|not provided [RCV000256172] ChrX:136659047 [GRCh38]
ChrX:135741206 [GRCh37]
ChrX:Xq26.3
pathogenic|likely pathogenic
NM_000074.2(CD40LG):c.368C>A (p.Ala123Glu) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000011918] ChrX:136656377 [GRCh38]
ChrX:135738536 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq26.3-27.1(chrX:136522136-140417943)x2 copy number gain See cases [RCV000052469] ChrX:136522136..140417943 [GRCh38]
ChrX:135604295..139500108 [GRCh37]
ChrX:135431961..139327774 [NCBI36]
ChrX:Xq26.3-27.1
pathogenic
GRCh38/hg38 Xq26.3(chrX:136613664-137581772)x3 copy number gain See cases [RCV000052470] ChrX:136613664..137581772 [GRCh38]
ChrX:135695823..136663931 [GRCh37]
ChrX:135523489..136491597 [NCBI36]
ChrX:Xq26.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq26.3(chrX:136005008-136665975)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054250]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054250]|See cases [RCV000054250] ChrX:136005008..136665975 [GRCh38]
ChrX:135196639..135748134 [GRCh37]
ChrX:134914833..135575800 [NCBI36]
ChrX:Xq26.3
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000074.2(CD40LG):c.506A>G (p.Tyr169Cys) single nucleotide variant not provided [RCV000171444] ChrX:136659135 [GRCh38]
ChrX:135741294 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000074.2(CD40LG):c.719_720del (p.Asn240fs) deletion not provided [RCV000171445] ChrX:136659348..136659349 [GRCh38]
ChrX:135741507..135741508 [GRCh37]
ChrX:Xq26.3
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq26.2-26.3(chrX:133532321-137519462)x2 copy number gain See cases [RCV000140818] ChrX:133532321..137519462 [GRCh38]
ChrX:132666349..136601621 [GRCh37]
ChrX:132494015..136429287 [NCBI36]
ChrX:Xq26.2-26.3
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000074.2(CD40LG):c.431G>A (p.Gly144Glu) single nucleotide variant not provided [RCV000255078] ChrX:136659060 [GRCh38]
ChrX:135741219 [GRCh37]
ChrX:Xq26.3
likely pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000074.2(CD40LG):c.684A>G (p.Val228=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000547346]|not specified [RCV000781203] ChrX:136659313 [GRCh38]
ChrX:135741472 [GRCh37]
ChrX:Xq26.3
benign
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_000074.2(CD40LG):c.330C>A (p.Ser110Arg) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000697661] ChrX:136654414 [GRCh38]
ChrX:135736573 [GRCh37]
ChrX:Xq26.3
uncertain significance
Single allele duplication Chromosome Xq26.3 duplication syndrome [RCV000235066] ChrX:135601430..136192229 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh37/hg19 Xq26.3(chrX:135602028-136259908)x2 copy number gain Chromosome Xq26.3 duplication syndrome [RCV000210453] ChrX:135602028..136259908 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000074.2(CD40LG):c.38C>T (p.Ala13Val) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001089061]|not provided [RCV000726000]|not specified [RCV000339805] ChrX:136648286 [GRCh38]
ChrX:135730445 [GRCh37]
ChrX:Xq26.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000074.2(CD40LG):c.594C>T (p.Pro198=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001513122]|not provided [RCV000263063] ChrX:136659223 [GRCh38]
ChrX:135741382 [GRCh37]
ChrX:Xq26.3
benign|uncertain significance
NM_000074.2(CD40LG):c.638del (p.Ser213fs) deletion not provided [RCV000404454] ChrX:136659267 [GRCh38]
ChrX:135741426 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.2(CD40LG):c.216C>A (p.Cys72Ter) single nucleotide variant not provided [RCV000523806] ChrX:136650325 [GRCh38]
ChrX:135732484 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.2(CD40LG):c.658C>T (p.Gln220Ter) single nucleotide variant not provided [RCV000490123] ChrX:136659287 [GRCh38]
ChrX:135741446 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.2(CD40LG):c.421G>C (p.Ala141Pro) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000606199] ChrX:136659050 [GRCh38]
ChrX:135741209 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.2(CD40LG):c.148T>C (p.Leu50=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000615122] ChrX:136648396 [GRCh38]
ChrX:135730555 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.2(CD40LG):c.347-2A>G single nucleotide variant not provided [RCV000730681] ChrX:136656354 [GRCh38]
ChrX:135738513 [GRCh37]
ChrX:Xq26.3
pathogenic
Single allele duplication Chromosome Xq26.3 duplication syndrome [RCV000415468] ChrX:135622314..136191699 [GRCh37]
ChrX:Xq26.3
likely pathogenic
Single allele duplication Chromosome Xq26.3 duplication syndrome [RCV000415470] ChrX:135533330..136123779 [GRCh37]
ChrX:Xq26.3
likely pathogenic
Single allele duplication Chromosome Xq26.3 duplication syndrome [RCV000415471] ChrX:135596446..136254970 [GRCh37]
ChrX:Xq26.3
likely pathogenic
Single allele duplication Chromosome Xq26.3 duplication syndrome [RCV000415472] ChrX:135549274..136126345 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000074.2(CD40LG):c.478del (p.Gln160fs) deletion not provided [RCV000414255] ChrX:136659107 [GRCh38]
ChrX:135741266 [GRCh37]
ChrX:Xq26.3
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000074.2(CD40LG):c.767T>C (p.Phe256Ser) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001378166]|not provided [RCV000423996] ChrX:136659396 [GRCh38]
ChrX:135741555 [GRCh37]
ChrX:Xq26.3
likely pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_000074.2(CD40LG):c.440C>A (p.Thr147Asn) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000823370]|not provided [RCV000441734] ChrX:136659069 [GRCh38]
ChrX:135741228 [GRCh37]
ChrX:Xq26.3
likely pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000074.2(CD40LG):c.464T>A (p.Leu155Gln) single nucleotide variant not provided [RCV000480761] ChrX:136659093 [GRCh38]
ChrX:135741252 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000074.2(CD40LG):c.107T>A (p.Met36Lys) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001368065]|not provided [RCV000480912] ChrX:136648355 [GRCh38]
ChrX:135730514 [GRCh37]
ChrX:Xq26.3
likely pathogenic|uncertain significance
NM_000074.2(CD40LG):c.368C>T (p.Ala123Val) single nucleotide variant not provided [RCV000481348] ChrX:136656377 [GRCh38]
ChrX:135738536 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.2(CD40LG):c.409+3A>T single nucleotide variant not provided [RCV000486861] ChrX:136656421 [GRCh38]
ChrX:135738580 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000074.2(CD40LG):c.256G>A (p.Glu86Lys) single nucleotide variant not specified [RCV000508287] ChrX:136650365 [GRCh38]
ChrX:135732524 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic|uncertain significance
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
NM_000074.2(CD40LG):c.-189A>C single nucleotide variant not specified [RCV000506423] ChrX:136648060 [GRCh38]
ChrX:135730219 [GRCh37]
ChrX:Xq26.3
likely benign
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000074.2(CD40LG):c.542G>C (p.Arg181Pro) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000636651]|not specified [RCV000506850] ChrX:136659171 [GRCh38]
ChrX:135741330 [GRCh37]
ChrX:Xq26.3
benign|uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_000074.2(CD40LG):c.-191A>C single nucleotide variant Hyper-IgM syndrome type 1 [RCV001504505]|not specified [RCV000507290] ChrX:136648058 [GRCh38]
ChrX:135730217 [GRCh37]
ChrX:Xq26.3
benign|likely benign
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000074.2(CD40LG):c.559del (p.Ala187fs) deletion Inborn genetic diseases [RCV000622392] ChrX:136659188 [GRCh38]
ChrX:135741347 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
NM_000074.2(CD40LG):c.410-13T>C single nucleotide variant Hyper-IgM syndrome type 1 [RCV000603610] ChrX:136659026 [GRCh38]
ChrX:135741185 [GRCh37]
ChrX:Xq26.3
benign
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NC_000023.11:g.(?_136650246)_(136654450_?)del deletion Hyper-IgM syndrome type 1 [RCV000636652] ChrX:136650246..136654450 [GRCh38]
ChrX:135732405..135736609 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000074.2(CD40LG):c.761C>A (p.Thr254Lys) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000636648] ChrX:136659390 [GRCh38]
ChrX:135741549 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000074.2(CD40LG):c.542G>A (p.Arg181Gln) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000636649] ChrX:136659171 [GRCh38]
ChrX:135741330 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.2(CD40LG):c.81A>G (p.Leu27=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000636650] ChrX:136648329 [GRCh38]
ChrX:135730488 [GRCh37]
ChrX:Xq26.3
benign
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq25-26.3(chrX:126759247-135790885)x1 copy number loss not provided [RCV000684387] ChrX:126759247..135790885 [GRCh37]
ChrX:Xq25-26.3
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
NM_000074.2(CD40LG):c.773T>C (p.Leu258Ser) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000690645] ChrX:136659402 [GRCh38]
ChrX:135741561 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.400ACA[1] (p.Thr135del) microsatellite Hyper-IgM syndrome type 1 [RCV000693514] ChrX:136656408..136656410 [GRCh38]
ChrX:135738567..135738569 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.322_325del (p.Glu108fs) microsatellite Hyper-IgM syndrome type 1 [RCV000689441] ChrX:136654400..136654403 [GRCh38]
ChrX:135736559..135736562 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000074.2(CD40LG):c.304_314del (p.Lys102fs) deletion Hyper-IgM syndrome type 1 [RCV000685846] ChrX:136654386..136654396 [GRCh38]
ChrX:135736545..135736555 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_000074.2(CD40LG):c.686T>C (p.Phe229Ser) single nucleotide variant not provided [RCV000762673] ChrX:136659315 [GRCh38]
ChrX:135741474 [GRCh37]
ChrX:Xq26.3
likely pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_000074.3(CD40LG):c.32G>A (p.Arg11Gln) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000923382] ChrX:136648280 [GRCh38]
ChrX:135730439 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.114G>A (p.Gly38=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001512372]|not provided [RCV000926209] ChrX:136648362 [GRCh38]
ChrX:135730521 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.386del (p.Glu129fs) deletion Hyper-IgM syndrome type 1 [RCV001049523] ChrX:136656395 [GRCh38]
ChrX:135738554 [GRCh37]
ChrX:Xq26.3
pathogenic
NC_000023.11:g.(?_136648058)_(136654450_?)del deletion Hyper-IgM syndrome type 1 [RCV001032173] ChrX:135730217..135736609 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.401del (p.Thr134fs) deletion Hyper-IgM syndrome type 1 [RCV001070147] ChrX:136656410 [GRCh38]
ChrX:135738569 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.2(CD40LG):c.429A>C (p.Lys143Asn) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001314969]|not specified [RCV000781201] ChrX:136659058 [GRCh38]
ChrX:135741217 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.2(CD40LG):c.288+1G>A single nucleotide variant Hyper-IgM syndrome type 1 [RCV000781202] ChrX:136650398 [GRCh38]
ChrX:135732557 [GRCh37]
ChrX:Xq26.3
likely pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_000074.3(CD40LG):c.410-3_410-2del deletion Hyper-IgM syndrome type 1 [RCV000819948] ChrX:136659035..136659036 [GRCh38]
ChrX:135741194..135741195 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000074.3(CD40LG):c.232T>C (p.Ser78Pro) single nucleotide variant not provided [RCV000929728] ChrX:136650341 [GRCh38]
ChrX:135732500 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.369G>A (p.Ala123=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000975356] ChrX:136656378 [GRCh38]
ChrX:135738537 [GRCh37]
ChrX:Xq26.3
likely benign
NM_000074.3(CD40LG):c.6C>T (p.Ile2=) single nucleotide variant not provided [RCV000938491] ChrX:136648254 [GRCh38]
ChrX:135730413 [GRCh37]
ChrX:Xq26.3
benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_000074.2(CD40LG):c.632C>A (p.Thr211Asn) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000781200] ChrX:136659261 [GRCh38]
ChrX:135741420 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NC_000023.11:g.(?_136654353)_(136654450_?)del deletion Hyper-IgM syndrome type 1 [RCV000792783] ChrX:136654353..136654450 [GRCh38]
ChrX:135736512..135736609 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.2(CD40LG):c.661C>T (p.Gln221Ter) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000818235] ChrX:136659290 [GRCh38]
ChrX:135741449 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000074.2(CD40LG):c.7G>A (p.Glu3Lys) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000816763] ChrX:136648255 [GRCh38]
ChrX:135730414 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.505TAT[1] (p.Tyr170del) microsatellite Hyper-IgM syndrome type 1 [RCV000813133] ChrX:136659134..136659136 [GRCh38]
ChrX:135741293..135741295 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.2(CD40LG):c.373C>T (p.His125Tyr) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000803202] ChrX:136656382 [GRCh38]
ChrX:135738541 [GRCh37]
ChrX:Xq26.3
uncertain significance
NC_000023.11:g.(?_136648058)_(136659435_?)del deletion Hyper-IgM syndrome type 1 [RCV000817284] ChrX:136648058..136659435 [GRCh38]
ChrX:135730217..135741594 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.2(CD40LG):c.676G>A (p.Gly226Arg) single nucleotide variant not provided [RCV000788160] ChrX:136659305 [GRCh38]
ChrX:135741464 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000074.2(CD40LG):c.520C>T (p.Gln174Ter) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000805406] ChrX:136659149 [GRCh38]
ChrX:135741308 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000074.3(CD40LG):c.359del (p.Pro120fs) deletion Hyper-IgM syndrome type 1 [RCV001030051] ChrX:136656367 [GRCh38]
ChrX:135738526 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.2(CD40LG):c.208_209del (p.Gln70fs) deletion not provided [RCV000788199] ChrX:136650316..136650317 [GRCh38]
ChrX:135732475..135732476 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000074.2(CD40LG):c.379A>G (p.Ile127Val) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000796869]|not provided [RCV000788794] ChrX:136656388 [GRCh38]
ChrX:135738547 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_000074.3(CD40LG):c.770G>A (p.Gly257Asp) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001237589] ChrX:136659399 [GRCh38]
ChrX:135741558 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
NM_000074.3(CD40LG):c.375del (p.His125fs) deletion not provided [RCV001008932] ChrX:136656384 [GRCh38]
ChrX:135738543 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000074.3(CD40LG):c.289-2A>C single nucleotide variant not provided [RCV001558353] ChrX:136654371 [GRCh38]
ChrX:135736530 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_000074.3(CD40LG):c.595G>A (p.Gly199Ser) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000908436] ChrX:136659224 [GRCh38]
ChrX:135741383 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.487G>A (p.Val163Ile) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000932769] ChrX:136659116 [GRCh38]
ChrX:135741275 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.550T>A (p.Ser184Thr) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000887806] ChrX:136659179 [GRCh38]
ChrX:135741338 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.601T>C (p.Phe201Leu) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000921393] ChrX:136659230 [GRCh38]
ChrX:135741389 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.508dup (p.Tyr170fs) duplication Hyper-IgM syndrome type 1 [RCV001060070] ChrX:136659135..136659136 [GRCh38]
ChrX:135741294..135741295 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.556C>T (p.Gln186Ter) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001226556] ChrX:136659185 [GRCh38]
ChrX:135741344 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.474del (p.Lys159fs) deletion Hyper-IgM syndrome type 1 [RCV001066545] ChrX:136659101 [GRCh38]
ChrX:135741260 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.384T>C (p.Ser128=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001411350]|not provided [RCV000935661] ChrX:136656393 [GRCh38]
ChrX:135738552 [GRCh37]
ChrX:Xq26.3
likely benign
NM_000074.3(CD40LG):c.551C>T (p.Ser184Leu) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001045482] ChrX:136659180 [GRCh38]
ChrX:135741339 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.707C>T (p.Ser236Leu) single nucleotide variant not provided [RCV001092165] ChrX:136659336 [GRCh38]
ChrX:135741495 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.608G>C (p.Arg203Thr) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001070826] ChrX:136659237 [GRCh38]
ChrX:135741396 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.347-1G>A single nucleotide variant Hyperimmunoglobulin M syndrome [RCV001193392] ChrX:136656355 [GRCh38]
ChrX:135738514 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.578T>G (p.Leu193Arg) single nucleotide variant not provided [RCV001532716] ChrX:136659207 [GRCh38]
ChrX:135741366 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.26C>T (p.Ser9Phe) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001066297] ChrX:136648274 [GRCh38]
ChrX:135730433 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.694C>T (p.Gln232Ter) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001203125] ChrX:136659323 [GRCh38]
ChrX:135741482 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.98T>A (p.Ile33Asn) single nucleotide variant Common variable agammaglobulinemia [RCV001027559] ChrX:136648346 [GRCh38]
ChrX:135730505 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.562C>G (p.Pro188Ala) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001212471] ChrX:136659191 [GRCh38]
ChrX:135741350 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.133del (p.Tyr45fs) deletion Hyper-IgM syndrome type 1 [RCV001236186] ChrX:136648381 [GRCh38]
ChrX:135730540 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_000074.3(CD40LG):c.430G>A (p.Gly144Arg) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001211447] ChrX:136659059 [GRCh38]
ChrX:135741218 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.108G>A (p.Met36Ile) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001059437] ChrX:136648356 [GRCh38]
ChrX:135730515 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.514T>C (p.Tyr172His) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001060218] ChrX:136659143 [GRCh38]
ChrX:135741302 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.418T>C (p.Trp140Arg) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001253461] ChrX:136659047 [GRCh38]
ChrX:135741206 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.340C>T (p.Gln114Ter) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001264504] ChrX:136654424 [GRCh38]
ChrX:135736583 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000074.3(CD40LG):c.433T>A (p.Tyr145Asn) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001302763] ChrX:136659062 [GRCh38]
ChrX:135741221 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000074.3(CD40LG):c.49C>G (p.Leu17Val) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001324502] ChrX:136648297 [GRCh38]
ChrX:135730456 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000074.3(CD40LG):c.470del (p.Asn157fs) deletion Hyper-IgM syndrome type 1 [RCV001382557] ChrX:136659096 [GRCh38]
ChrX:135741255 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.346+5G>A single nucleotide variant Hyper-IgM syndrome type 1 [RCV001382556] ChrX:136654435 [GRCh38]
ChrX:135736594 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.122T>C (p.Leu41Pro) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001372922] ChrX:136648370 [GRCh38]
ChrX:135730529 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.73A>G (p.Met25Val) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001343909] ChrX:136648321 [GRCh38]
ChrX:135730480 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000074.3(CD40LG):c.288+6C>T single nucleotide variant Hyper-IgM syndrome type 1 [RCV001369649] ChrX:136650403 [GRCh38]
ChrX:135732562 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.346+1G>A single nucleotide variant Hyper-IgM syndrome type 1 [RCV001387581] ChrX:136654431 [GRCh38]
ChrX:135736590 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.314C>T (p.Thr105Met) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001514818] ChrX:136654398 [GRCh38]
ChrX:135736557 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.387G>A (p.Glu129=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001473940] ChrX:136656396 [GRCh38]
ChrX:135738555 [GRCh37]
ChrX:Xq26.3
likely benign
NM_000074.3(CD40LG):c.39G>A (p.Ala13=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001521282] ChrX:136648287 [GRCh38]
ChrX:135730446 [GRCh37]
ChrX:Xq26.3
benign
NC_000023.10:g.(?_135738495)_(135741594_?)del deletion Hyper-IgM syndrome type 1 [RCV001378509] ChrX:135738495..135741594 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000074.3(CD40LG):c.156+17G>A single nucleotide variant Hyper-IgM syndrome type 1 [RCV001519876] ChrX:136648421 [GRCh38]
ChrX:135730580 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.204G>A (p.Thr68=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001510787] ChrX:136650313 [GRCh38]
ChrX:135732472 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.600A>G (p.Arg200=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001517222] ChrX:136659229 [GRCh38]
ChrX:135741388 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.346G>T (p.Gly116Cys) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001379720] ChrX:136654430 [GRCh38]
ChrX:135736589 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000074.3(CD40LG):c.30C>G (p.Pro10=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001515113] ChrX:136648278 [GRCh38]
ChrX:135730437 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.315G>A (p.Thr105=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001511250] ChrX:136654399 [GRCh38]
ChrX:135736558 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.15C>A (p.Tyr5Ter) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001384131] ChrX:136648263 [GRCh38]
ChrX:135730422 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.360T>C (p.Pro120=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001398600] ChrX:136656369 [GRCh38]
ChrX:135738528 [GRCh37]
ChrX:Xq26.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11935 AgrOrtholog
COSMIC CD40LG COSMIC
Ensembl Genes ENSG00000102245 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000359662 UniProtKB/TrEMBL
  ENSP00000359663 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000370628 UniProtKB/TrEMBL
  ENST00000370629 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.120.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000102245 GTEx
HGNC ID HGNC:11935 ENTREZGENE
Human Proteome Map CD40LG Human Proteome Map
InterPro CD40L UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNF_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNF_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tumour_necrosis_fac-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:959 UniProtKB/Swiss-Prot
NCBI Gene 959 ENTREZGENE
OMIM 300386 OMIM
  308230 OMIM
PANTHER PTHR11471:SF5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TNF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36626 PharmGKB
PIRSF TNF_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS CD40LIGAND UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TNF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TNF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49842 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C1L3E0_HUMAN UniProtKB/TrEMBL
  CD40L_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q3L8U2_HUMAN UniProtKB/TrEMBL
  Q45QX2_HUMAN UniProtKB/TrEMBL