TNFRSF1B (TNF receptor superfamily member 1B) - Rat Genome Database

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Gene: TNFRSF1B (TNF receptor superfamily member 1B) Homo sapiens
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Symbol: TNFRSF1B
Name: TNF receptor superfamily member 1B
RGD ID: 1298224
HGNC Page HGNC:11917
Description: Enables tumor necrosis factor binding activity and ubiquitin protein ligase binding activity. Involved in cellular response to lipopolysaccharide and positive regulation of membrane protein ectodomain proteolysis. Located in membrane raft. Implicated in several diseases, including Parkinsonism; acne; bone disease (multiple); glomerulonephritis (multiple); and lung disease (multiple). Biomarker of several diseases, including autoimmune disease of musculoskeletal system (multiple); female reproductive organ cancer (multiple); glomerulonephritis (multiple); kidney failure (multiple); and lung disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CD120b; p75; p75 TNF receptor; p75TNFR; p80 TNF-alpha receptor; soluble TNFR1B variant 1; TBPII; TNF-R-II; TNF-R2; TNF-R75; TNF-RII; TNFBR; TNFR-II; TNFR1B; TNFR2; TNFR80; tumor necrosis factor beta receptor; tumor necrosis factor binding protein 2; tumor necrosis factor receptor 2; tumor necrosis factor receptor superfamily member 1B; tumor necrosis factor receptor superfamily, member 1B; tumor necrosis factor receptor type II
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Is Marker For: QTLs:   OSTEAR17_H   BP9_H  
Candidate Gene For: SGHRL1_H BW413_H BW442_H BW396_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38112,166,991 - 12,209,220 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl112,166,991 - 12,209,228 (+)EnsemblGRCh38hg38GRCh38
GRCh37112,227,048 - 12,269,277 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36112,149,647 - 12,191,864 (+)NCBINCBI36Build 36hg18NCBI36
Build 34112,161,325 - 12,203,542NCBI
Celera111,340,352 - 11,382,470 (+)NCBICelera
Cytogenetic Map1p36.22NCBI
HuRef111,380,310 - 11,422,542 (+)NCBIHuRef
CHM1_1112,214,947 - 12,257,256 (+)NCBICHM1_1
T2T-CHM13v2.0111,711,114 - 11,753,352 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acne  (IAGP)
acquired immunodeficiency syndrome  (IEP)
Acute Experimental Pancreatitis  (ISO)
acute kidney failure  (IEP,ISO)
adult respiratory distress syndrome  (IMP,ISO)
allergic disease  (EXP)
Alzheimer's disease  (IEP)
ankylosing spondylitis  (IDA)
Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis  (IEP)
autistic disorder  (EXP)
bacterial pneumonia  (ISO)
Bone Fractures  (EXP)
brain ischemia  (EXP)
Bronchial Spasm  (IDA)
cerebral malaria  (ISO)
Charcot-Marie-Tooth disease type 2  (IAGP)
chromosome 1p36 deletion syndrome  (IAGP)
chronic obstructive pulmonary disease  (IEP)
colon carcinoma  (IEP)
congestive heart failure  (IMP)
Crohn's disease  (ISO)
cryptogenic organizing pneumonia  (IEP)
Diabetic Nephropathies  (IEP)
end stage renal disease  (IEP)
endometrial cancer  (IEP)
endometriosis  (IDA,IMP)
Experimental Arthritis  (IMP,ISO)
Experimental Diabetes Mellitus  (IMP)
Experimental Seizures  (ISO)
extrinsic allergic alveolitis  (IEP)
Fatigue  (IEP)
Fetal Death  (IMP)
focal segmental glomerulosclerosis  (ISO)
glomerulonephritis  (IEP,ISO)
glomerulosclerosis  (ISO)
Headache  (IMP)
Hyperalgesia  (ISO)
Hypoalbuminemia  (EXP)
IgA glomerulonephritis  (IDA,IEP)
Inflammation  (IMP)
Intervertebral Disc Displacement  (IMP)
kidney failure  (IEP)
Legionnaires' disease  (ISO)
liver cirrhosis  (EXP)
lupus nephritis  (IDA,ISO)
metabolic dysfunction-associated steatotic liver disease  (EXP)
mycosis fungoides  (EXP)
myocardial infarction  (ISO)
Nasal Polyps  (IEP)
nonprogressive cerebellar ataxia with mental retardation  (IAGP)
obesity  (EXP)
osteoporosis  (IAGP)
ovarian cancer  (IEP)
Parkinson's disease  (ISO)
Parkinsonism  (IDA)
pneumonia  (EXP,IAGP,IDA)
polymyositis  (IEP)
pre-eclampsia  (IDA)
pulmonary sarcoidosis  (IEP)
renal cell carcinoma  (IEP)
retinal detachment  (ISO)
sciatic neuropathy  (ISO)
Sciatica  (ISO)
Sezary's disease  (EXP)
silicosis  (ISO)
Spinal Cord Compression  (IMP,ISO)
Systemic Inflammatory Response Syndrome  (ISO)
systemic lupus erythematosus  (IAGP,IEP)
Transplant Rejection  (IEP)
tuberculosis  (IAGP)
type 2 diabetes mellitus  (EXP)
ureteral obstruction  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-amino-2-deoxy-D-glucopyranose  (EXP)
2-butoxyethanol  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
4-tert-butylphenol  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
Aflatoxin G1  (ISO)
aldehydo-D-glucosamine  (EXP)
alfacalcidol  (EXP)
Aloe emodin  (EXP)
alpha-naphthoflavone  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aripiprazole  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP,ISO)
asbestos  (EXP)
bathocuproine disulfonic acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzoates  (EXP)
beta-D-glucosamine  (EXP)
beta-lapachone  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
bleomycin A2  (ISO)
Brevianamide A  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
carbon monoxide  (EXP)
carbon nanotube  (ISO)
chloroquine  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP,ISO)
cocaine  (ISO)
Cuprizon  (ISO)
curcumin  (EXP)
DDE  (ISO)
dexamethasone  (ISO)
dextran  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP,ISO)
dichromium trioxide  (EXP)
doxorubicin  (EXP,ISO)
epoxiconazole  (ISO)
ethanol  (EXP)
ethylparaben  (EXP)
fluoranthene  (ISO)
furosemide  (ISO)
Fusarenone X  (ISO)
gefitinib  (EXP)
glyphosate  (ISO)
Heliotrine  (ISO)
hopane  (EXP)
hydrogen peroxide  (EXP)
hydroquinone  (EXP,ISO)
indole-3-methanol  (ISO)
inulin  (ISO)
ionomycin  (EXP)
ketoconazole  (ISO)
lead diacetate  (EXP,ISO)
lead nitrate  (ISO)
lead(0)  (EXP)
lenalidomide  (EXP)
lipopolysaccharide  (EXP,ISO)
melatonin  (ISO)
methyl methanesulfonate  (EXP)
Mitotane  (ISO)
monosodium L-glutamate  (ISO)
mycophenolic acid  (ISO)
N-acetyl-L-cysteine  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
nevirapine  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
nitrogen dioxide  (EXP)
obeticholic acid  (EXP)
octreotide  (ISO)
oleanolic acid  (ISO)
osthole  (EXP)
oxidopamine  (EXP)
ozone  (EXP,ISO)
p-menthan-3-ol  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP)
pentachlorophenol  (ISO)
perfluorodecanoic acid  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluoroundecanoic acid  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
pioglitazone  (ISO)
pirinixic acid  (EXP,ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
prenyl diphosphate  (EXP)
procyanidin B3  (ISO)
progesterone  (EXP)
pyrrolidine dithiocarbamate  (EXP)
quercetin  (EXP)
quercitrin  (EXP)
resveratrol  (ISO)
sanguinarine  (EXP)
SB 203580  (ISO)
senecionine  (ISO)
serpentine asbestos  (ISO)
simvastatin  (ISO)
sodium arsenite  (EXP,ISO)
sodium stibogluconate  (EXP)
streptozocin  (EXP,ISO)
succimer  (ISO)
sulfur dioxide  (EXP)
temozolomide  (EXP)
terameprocol  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thalidomide  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
TMC-120A  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
uranium atom  (EXP)
valproic acid  (EXP)
vemurafenib  (EXP)
vinclozolin  (ISO)
WR-1065  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Correlation between serum levels of soluble tumor necrosis factor receptor and disease activity in systemic lupus erythematosus. Aderka D, etal., Arthritis Rheum. 1993 Aug;36(8):1111-20.
2. Increased serum levels of soluble receptors for tumor necrosis factor in cancer patients. Aderka D, etal., Cancer Res. 1991 Oct 15;51(20):5602-7.
3. Tumor necrosis factor receptor expression and signaling in renal cell carcinoma. Al-Lamki RS, etal., Am J Pathol. 2010 Aug;177(2):943-54. doi: 10.2353/ajpath.2010.091218. Epub 2010 Jun 21.
4. The thalidomide analgesic effect is associated with differential TNF-alpha receptor expression in the dorsal horn of the spinal cord as studied in a rat model of neuropathic pain. Andrade P, etal., Brain Res. 2012 Apr 23;1450:24-32. doi: 10.1016/j.brainres.2012.02.033. Epub 2012 Feb 22.
5. Fc gamma RIIa polymorphism: a susceptibility factor for immune complex-mediated lupus nephritis in Brazilian patients. Bazilio AP, etal., Nephrol Dial Transplant. 2004 Jun;19(6):1427-31. Epub 2004 Mar 5.
6. Anti-tumor necrosis factor alpha treatment of interferon-alpha-induced murine lupus nephritis reduces the renal macrophage response but does not alter glomerular immune complex formation. Bethunaickan R, etal., Arthritis Rheum. 2012 Oct;64(10):3399-408. doi: 10.1002/art.34553.
7. Fatigue and proinflammatory cytokine activity in breast cancer survivors. Bower JE, etal., Psychosom Med. 2002 Jul-Aug;64(4):604-11.
8. TNFR2 interposes the proliferative and NF-kappaB-mediated inflammatory response by podocytes to TNF-alpha. Bruggeman LA, etal., Lab Invest. 2011 Mar;91(3):413-25. doi: 10.1038/labinvest.2010.199. Epub 2011 Jan 10.
9. The levels of nitric oxide and asymmetric dimethylarginine in the rat endometriosis model. Cayci T, etal., J Obstet Gynaecol Res. 2011 Apr 12. doi: 10.1111/j.1447-0756.2010.01482.x.
10. Expression of tumour necrosis factor receptors by bronchoalveolar cells in hypersensitivity pneumonitis. Chen B, etal., Eur Respir J. 2005 Jun;25(6):1039-43.
11. The effect of intra-articular injection of different concentrations of ozone on the level of TNF-alpha, TNF-R1, and TNF-R2 in rats with rheumatoid arthritis. Chen H, etal., Rheumatol Int. 2013 May;33(5):1223-7. doi: 10.1007/s00296-012-2529-7. Epub 2012 Oct 2.
12. Tumor Necrosis Factor-Alpha Antagonist Reduces Apoptosis of Neurons and Oligodendroglia in Rat Spinal Cord Injury. Chen KB, etal., Spine (Phila Pa 1976). 2011 Jan 8.
13. Differential activation of tumor necrosis factor receptors distinguishes between brains from Alzheimer's disease and non-demented patients. Cheng X, etal., J Alzheimers Dis. 2010;19(2):621-30. doi: 10.3233/JAD-2010-1253.
14. Ozone-induced lung inflammation and hyperreactivity are mediated via tumor necrosis factor-alpha receptors. Cho HY, etal., Am J Physiol Lung Cell Mol Physiol. 2001 Mar;280(3):L537-46.
15. Endogenous tumor necrosis factor alpha (TNFalpha) requires TNF receptor type 2 to generate heat hyperalgesia in a mouse cancer model. Constantin CE, etal., J Neurosci. 2008 May 7;28(19):5072-81.
16. Circulating levels of TNF-alpha and its soluble receptors in the plasma of patients with epithelial ovarian cancer. Dobrzycka B, etal., Eur Cytokine Netw. 2009 Sep;20(3):131-4.
17. Sources of alveolar soluble TNF receptors during acute lung injury of different etiologies. Dorr AD, etal., J Appl Physiol. 2011 Apr 21.
18. Efficacy of etanercept on rheumatic signs and pulmonary function tests in advanced ankylosing spondylitis: results of a randomised double-blind placebo-controlled study (SPINE). Dougados M, etal., Ann Rheum Dis. 2011 May;70(5):799-804. Epub 2011 Feb 13.
19. Bronchospasm associated with anti-TNF treatment. Dubey S, etal., Clin Rheumatol. 2009 Aug;28(8):989-92. Epub 2009 Apr 2.
20. Lipopolysaccharide signaling in the carotid chemoreceptor pathway of rats with sepsis syndrome. Fernandez R, etal., Respir Physiol Neurobiol. 2011 Mar 15;175(3):336-48. Epub 2010 Dec 30.
21. TNF receptor 1 and 2 contribute in different ways to resistance to Legionella pneumophila-induced mortality in mice. Fujita M, etal., Cytokine. 2008 Nov;44(2):298-303. Epub 2008 Oct 5.
22. Serum levels of soluble receptors for tumor necrosis factor (p55 and p75 sTNFr) in endometrial cancer. Gadducci A, etal., Anticancer Res. 1996 Sep-Oct;16(5B):3125-8.
23. Linkage and association of tumor necrosis factor receptor 2 locus with hypertension, hypercholesterolemia and plasma shed receptor. Glenn CL, etal., Hum Mol Genet 2000 Aug 12;9(13):1943-9.
24. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
25. Circulating TNF receptors 1 and 2 predict stage 3 CKD in type 1 diabetes. Gohda T, etal., J Am Soc Nephrol. 2012 Mar;23(3):516-24. doi: 10.1681/ASN.2011060628. Epub 2012 Jan 19.
26. Circulating TNF-alpha and its soluble receptors during experimental acute pancreatitis. Granell S, etal., Cytokine. 2004 Feb 21;25(4):187-91.
27. Role of TNFR1 and TNFR2 receptors in tubulointerstitial fibrosis of obstructive nephropathy. Guo G, etal., Am J Physiol. 1999 Nov;277(5 Pt 2):F766-72.
28. Early subcutaneous administration of etanercept (Enbrel) prevents from hyperoxia-induced lung injury. Guthmann F, etal., Exp Lung Res. 2009 Nov;35(9):770-80.
29. Changes in cardiac structure in hypertension produced by placental ischemia in pregnant rats: effect of tumor necrosis factor blockade. Gutkowska J, etal., J Hypertens. 2011 Apr 17.
30. Methamphetamine-induced dopamine transporter complex formation and dopaminergic deficits: the role of D2 receptor activation. Hadlock GC, etal., J Pharmacol Exp Ther. 2010 Oct;335(1):207-12. Epub 2010 Jul 9.
31. The role of TNFalpha in the periaqueductal gray during naloxone-precipitated morphine withdrawal in rats. Hao S, etal., Neuropsychopharmacology. 2011 Feb;36(3):664-76. Epub 2010 Nov 10.
32. Expression of tumor necrosis factor receptors on granulocytes in patients with myeloperoxidase anti-neutrophil cytoplasmic autoantibody-associated vasculitis. Hasegawa M, etal., Nephron Clin Pract. 2009;113(3):c222-33. doi: 10.1159/000235242. Epub 2009 Aug 18.
33. Genetic variants in inflammation-related genes are associated with radiation-induced toxicity following treatment for non-small cell lung cancer. Hildebrandt MA, etal., PLoS One. 2010 Aug 25;5(8):e12402.
34. Upregulation of TNF receptor type 2 in human and experimental renal allograft rejection. Hoffmann U, etal., Am J Transplant. 2009 Apr;9(4):675-86. doi: 10.1111/j.1600-6143.2008.02536.x. Epub 2008 Mar 2.
35. Direct application of the tumor necrosis factor-alpha inhibitor, etanercept, into a punctured intervertebral disc decreases calcitonin gene-related peptide expression in rat dorsal root ganglion neurons. Horii M, etal., Spine (Phila Pa 1976). 2011 Jan 15;36(2):E80-5.
36. Vesicular monoamine transporter 2 and dopamine transporter are molecular targets of Pitx3 in the ventral midbrain dopamine neurons. Hwang DY, etal., J Neurochem. 2009 Dec;111(5):1202-12. Epub 2009 Sep 24.
37. Elevated serum levels of the type I and type II receptors for tumor necrosis factor-alpha as predictive factors for ARF in patients with septic shock. Iglesias J, etal., Am J Kidney Dis. 2003 Jan;41(1):62-75.
38. Tumor necrosis factor alpha pathways develops liver apoptosis in type 1 diabetes mellitus. Ingaramo PI, etal., Mol Immunol. 2011 Apr 8.
39. Differences between tumor necrosis factor-alpha receptors types 1 and 2 in the modulation of spinal glial cell activation and mechanical allodynia in a rat sciatic nerve injury model. Ishikawa T, etal., Spine (Phila Pa 1976). 2013 Jan 1;38(1):11-6. doi: 10.1097/BRS.0b013e3182610fa9.
40. Regression of endometrial autografts in a rat model of endometriosis treated with etanercept. Islimye M, etal., Eur J Obstet Gynecol Reprod Biol. 2011 Nov;159(1):184-9. doi: 10.1016/j.ejogrb.2011.06.029. Epub 2011 Jul 7.
41. Elevated CSF levels of TACE activity and soluble TNF receptors in subjects with mild cognitive impairment and patients with Alzheimer's disease. Jiang H, etal., Mol Neurodegener. 2011 Oct 6;6:69. doi: 10.1186/1750-1326-6-69.
42. TNF-alpha in hypothalamic paraventricular nucleus contributes to sympathoexcitation in heart failure by modulating AT1 receptor and neurotransmitters. Kang YM, etal., Tohoku J Exp Med. 2010;222(4):251-63.
43. Serum cytokine profile in patients with active lupus nephritis. Koenig KF, etal., Cytokine. 2012 Nov;60(2):410-6. doi: 10.1016/j.cyto.2012.07.004. Epub 2012 Jul 28.
44. Roles of TNF-alpha and its receptors in the beneficial effects of vagal stimulation after myocardial infarction in rats. Kong SS, etal., Clin Exp Pharmacol Physiol. 2011 Mar 1. doi: 10.1111/j.1440-1681.2011.05505.x.
45. The association of serum lipids and inflammatory biomarkers with renal function in men with type II diabetes mellitus. Lin J, etal., Kidney Int. 2006 Jan;69(2):336-42.
46. Predictive and pathogenetic value of plasma biomarkers for acute kidney injury in patients with acute lung injury. Liu KD, etal., Crit Care Med. 2007 Dec;35(12):2755-61.
47. Inflammatory profile and response to anti-TNF therapy in patients with chronic pulmonary sarcoidosis. Loza MJ, etal., Clin Vaccine Immunol. 2011 Apr 20.
48. Treatment of experimental adjuvant arthritis with a novel folate receptor-targeted folic acid-aminopterin conjugate. Lu Y, etal., Arthritis Res Ther. 2011 Apr 4;13(2):R56.
49. Decrease in tumor necrosis factor-alpha receptor-associated death domain results from ubiquitin-dependent degradation in obstructive renal injury in rats. Misaki T, etal., Am J Pathol. 2009 Jul;175(1):74-83. doi: 10.2353/ajpath.2009.080884. Epub 2009 Jun 18.
50. A functional haplotype in the 3'untranslated region of TNFRSF1B is associated with tuberculosis in two African populations. Moller M, etal., Am J Respir Crit Care Med. 2010 Feb 15;181(4):388-93. Epub 2009 Dec 10.
51. Tumor necrosis factor-alpha mediates photoreceptor death in a rodent model of retinal detachment. Nakazawa T, etal., Invest Ophthalmol Vis Sci. 2011 Mar 14;52(3):1384-91. Print 2011 Mar.
52. Lack of soluble tumor necrosis factor alpha receptor 1 and 2 and interleukin-1beta compartmentalization in lungs of mice after a single intratracheal inoculation with live Porphyromonas gingivalis. Nemec A, etal., Exp Lung Res. 2009 Sep;35(7):605-20.
53. Serum concentrations of markers of TNFalpha and Fas-mediated pathways and renal function in nonproteinuric patients with type 1 diabetes. Niewczas MA, etal., Clin J Am Soc Nephrol. 2009 Jan;4(1):62-70. Epub 2008 Dec 10.
54. Circulating TNF receptors 1 and 2 predict ESRD in type 2 diabetes. Niewczas MA, etal., J Am Soc Nephrol. 2012 Mar;23(3):507-15. doi: 10.1681/ASN.2011060627. Epub 2012 Jan 19.
55. Mechanisms of immune complex-mediated experimental glomerulonephritis: possible role of the balance between endogenous TNF and soluble TNF receptor type 2. Pfeifer E, etal., Eur Cytokine Netw. 2012 Mar 1;23(1):15-20. doi: 10.1684/ecn.2012.0299.
56. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
57. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
58. MicroRNA Expression in Induced Sputum of Smokers and Patients with Chronic Obstructive Pulmonary Disease. Pottelberge GR, etal., Am J Respir Crit Care Med. 2011 Apr 1;183(7):898-906. Epub 2010 Oct 29.
59. TNFR2-mediated apoptosis and necrosis in cisplatin-induced acute renal failure. Ramesh G and Reeves WB, Am J Physiol Renal Physiol. 2003 Oct;285(4):F610-8. Epub 2003 Jul 15.
60. Spontaneous pregnancy loss mediated by abnormal maternal inflammation in rats is linked to deficient uteroplacental perfusion. Renaud SJ, etal., J Immunol. 2011 Feb 1;186(3):1799-808. Epub 2010 Dec 27.
61. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
62. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
63. Enzymatic-nonenzymatic cellular antioxidant defense systems response and immunohistochemical detection of MDMA, VMAT2, HSP70, and apoptosis as biomarkers for MDMA (Ecstasy) neurotoxicity. Riezzo I, etal., J Neurosci Res. 2010 Mar;88(4):905-16.
64. Quantification of the mRNA encoding Tumor Necrosis Factor alpha (TNFalpha) and its receptors in human nasal polyps. Rostkowska-Nadolska B, etal., Adv Med Sci. 2008;53(2):263-9.
65. Imbalances in serum proinflammatory cytokines and their soluble receptors: a putative role in the progression of idiopathic IgA nephropathy (IgAN) and Henoch-Schonlein purpura nephritis, and a potential target of immunoglobulin therapy? Rostoker G, etal., Clin Exp Immunol. 1998 Dec;114(3):468-76.
66. Plasma concentrations of TNF-alpha and its soluble receptors sTNFR1 and sTNFR2 in patients with coronary artery disease. Safranow K, etal., Tissue Antigens. 2009 Nov;74(5):386-92.
67. Etanercept restores the antinociceptive effect of morphine and suppresses spinal neuroinflammation in morphine-tolerant rats. Shen CH, etal., Anesth Analg. 2011 Feb;112(2):454-9. Epub 2010 Nov 16.
68. Moxibustion treatment restoring the intestinal epithelium barrier in rats with Crohn's disease by down-regulating tumor necrosis factor alpha, tumor necrosis factor receptor 1, and tumor necrosis factor receptor 2. Shi Y, etal., Chin J Integr Med. 2011 Mar;17(3):212-7. Epub 2011 Feb 27.
69. Elevation of serum soluble tumour necrosis factor receptors in patients with polymyositis and dermatomyositis. Shimizu T, etal., Clin Rheumatol. 2000;19(5):352-9.
70. Axonal transport of TNF-alpha in painful neuropathy: distribution of ligand tracer and TNF receptors. Shubayev VI and Myers RR, J Neuroimmunol. 2001 Mar 1;114(1-2):48-56.
71. TNF-alpha type 2 receptor mediates renal inflammatory response to chronic angiotensin II administration with high salt intake in mice. Singh P, etal., Am J Physiol Renal Physiol. 2013 Apr 1;304(7):F991-9. doi: 10.1152/ajprenal.00525.2012. Epub 2013 Feb 6.
72. Increased expression of tumor necrosis factor-alpha receptors in the brains of patients with AIDS. Sippy BD, etal., J Acquir Immune Defic Syndr Hum Retrovirol. 1995 Dec 15;10(5):511-21.
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Additional References at PubMed
PMID:1310388   PMID:1328224   PMID:1335762   PMID:1655619   PMID:1663076   PMID:1929203   PMID:1966549   PMID:2153136   PMID:2158863   PMID:2160731   PMID:2166946   PMID:2172983  
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Genomics

Comparative Map Data
TNFRSF1B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38112,166,991 - 12,209,220 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl112,166,991 - 12,209,228 (+)EnsemblGRCh38hg38GRCh38
GRCh37112,227,048 - 12,269,277 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36112,149,647 - 12,191,864 (+)NCBINCBI36Build 36hg18NCBI36
Build 34112,161,325 - 12,203,542NCBI
Celera111,340,352 - 11,382,470 (+)NCBICelera
Cytogenetic Map1p36.22NCBI
HuRef111,380,310 - 11,422,542 (+)NCBIHuRef
CHM1_1112,214,947 - 12,257,256 (+)NCBICHM1_1
T2T-CHM13v2.0111,711,114 - 11,753,352 (+)NCBIT2T-CHM13v2.0
Tnfrsf1b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394144,938,938 - 144,973,453 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4144,940,033 - 144,973,440 (-)EnsemblGRCm39 Ensembl
GRCm384145,212,368 - 145,246,870 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4145,213,463 - 145,246,870 (-)EnsemblGRCm38mm10GRCm38
MGSCv374144,802,271 - 144,836,773 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364144,479,055 - 144,513,557 (-)NCBIMGSCv36mm8
Celera4146,801,795 - 146,837,140 (-)NCBICelera
Cytogenetic Map4E1NCBI
cM Map478.17NCBI
Tnfrsf1b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85162,356,250 - 162,387,411 (-)NCBIGRCr8
mRatBN7.25157,070,642 - 157,104,216 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5157,070,642 - 157,104,206 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5159,775,748 - 159,806,642 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05161,549,033 - 161,579,923 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05161,505,389 - 161,536,279 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05163,136,390 - 163,167,299 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5163,136,390 - 163,167,299 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05166,815,372 - 166,845,910 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45163,666,541 - 163,697,484 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15163,674,328 - 163,707,672 (-)NCBI
Celera5155,362,574 - 155,393,443 (-)NCBICelera
Cytogenetic Map5q36NCBI
Tnfrsf1b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554861,792,115 - 1,818,362 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554861,790,531 - 1,817,986 (-)NCBIChiLan1.0ChiLan1.0
TNFRSF1B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21216,028,254 - 216,070,267 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11214,675,232 - 214,717,231 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0110,915,743 - 10,957,765 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1112,130,663 - 12,172,646 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl112,130,663 - 12,172,646 (+)Ensemblpanpan1.1panPan2
TNFRSF1B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1284,140,179 - 84,151,219 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl284,141,911 - 84,157,191 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha280,674,178 - 80,701,012 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0284,802,376 - 84,828,308 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl284,801,328 - 84,828,324 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1281,551,315 - 81,578,384 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0282,551,181 - 82,578,413 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0283,616,667 - 83,643,630 (-)NCBIUU_Cfam_GSD_1.0
Tnfrsf1b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505835,083,616 - 35,110,985 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936474908,485 - 934,177 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936474908,414 - 935,765 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TNFRSF1B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl672,195,435 - 72,231,147 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1672,195,420 - 72,231,146 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TNFRSF1B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120119,590,621 - 119,633,562 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20119,590,325 - 119,633,497 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605423,447,248 - 23,490,475 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tnfrsf1b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624818896,150 - 922,710 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624818894,470 - 922,806 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TNFRSF1B
36 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p36.22-36.21(chr1:11654070-12768656)x3 copy number gain See cases [RCV000051460] Chr1:11654070..12768656 [GRCh38]
Chr1:11714127..12828807 [GRCh37]
Chr1:11636714..12751394 [NCBI36]
Chr1:1p36.22-36.21		 uncertain significance
GRCh38/hg38 1p36.22(chr1:11737130-12169786)x3 copy number gain See cases [RCV000051461] Chr1:11737130..12169786 [GRCh38]
Chr1:11797187..12229843 [GRCh37]
Chr1:11719774..12152430 [NCBI36]
Chr1:1p36.22		 uncertain significance
GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3 copy number gain See cases [RCV000051794] Chr1:6652339..12724844 [GRCh38]
Chr1:6712399..12784811 [GRCh37]
Chr1:6634986..12707398 [NCBI36]
Chr1:1p36.31-36.21		 pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|See cases [RCV000051795] Chr1:6853513..17326813 [GRCh38]
Chr1:6913573..17685411 [GRCh37]
Chr1:6836160..17557998 [NCBI36]
Chr1:1p36.31-36.13		 pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:12149586-13111056)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051796]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051796]|See cases [RCV000051796] Chr1:12149586..13111056 [GRCh38]
Chr1:12209643..13178528 [GRCh37]
Chr1:12132230..13101115 [NCBI36]
Chr1:1p36.22-36.21		 pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:2963330-12666744)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|See cases [RCV000053713] Chr1:2963330..12666744 [GRCh38]
Chr1:2879895..12726755 [GRCh37]
Chr1:2869755..12649342 [NCBI36]
Chr1:1p36.32-36.21		 pathogenic
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 copy number loss See cases [RCV000053714] Chr1:3006193..17688934 [GRCh38]
Chr1:2922757..18015429 [GRCh37]
Chr1:2912617..17888016 [NCBI36]
Chr1:1p36.32-36.13		 pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1 copy number loss See cases [RCV000053724] Chr1:4898439..13111056 [GRCh38]
Chr1:4958499..13178528 [GRCh37]
Chr1:4858359..13101115 [NCBI36]
Chr1:1p36.32-36.21		 pathogenic
GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1 copy number loss See cases [RCV000053760] Chr1:10556797..22557907 [GRCh38]
Chr1:10616854..22884400 [GRCh37]
Chr1:10539441..22756987 [NCBI36]
Chr1:1p36.22-36.12		 pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1 copy number loss See cases [RCV000053763] Chr1:10621776..16520709 [GRCh38]
Chr1:10681833..16847204 [GRCh37]
Chr1:10604420..16719791 [NCBI36]
Chr1:1p36.22-36.13		 pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1 copy number loss See cases [RCV000053765] Chr1:10809039..16422500 [GRCh38]
Chr1:10869096..16748995 [GRCh37]
Chr1:10791683..16621582 [NCBI36]
Chr1:1p36.22-36.13		 pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1 copy number loss See cases [RCV000053766] Chr1:11121625..16324498 [GRCh38]
Chr1:11181682..16650993 [GRCh37]
Chr1:11104269..16523580 [NCBI36]
Chr1:1p36.22-36.13		 pathogenic
GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1 copy number loss See cases [RCV000053755] Chr1:7165036..13111056 [GRCh38]
Chr1:7225096..13178528 [GRCh37]
Chr1:7147683..13101115 [NCBI36]
Chr1:1p36.23-36.21		 pathogenic
GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1 copy number loss See cases [RCV000053756] Chr1:9034671..16441465 [GRCh38]
Chr1:9094730..16767960 [GRCh37]
Chr1:9017317..16640547 [NCBI36]
Chr1:1p36.23-36.13		 pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:9406722-12852772)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]|See cases [RCV000053757] Chr1:9406722..12852772 [GRCh38]
Chr1:9466781..12912625 [GRCh37]
Chr1:9389368..12835212 [NCBI36]
Chr1:1p36.22-36.21		 pathogenic
NM_001066.2(TNFRSF1B):c.720C>T (p.Ser240=) single nucleotide variant Malignant melanoma [RCV000064056] Chr1:12193031 [GRCh38]
Chr1:12253088 [GRCh37]
Chr1:12175675 [NCBI36]
Chr1:1p36.22		 not provided
NM_001066.2(TNFRSF1B):c.1275G>A (p.Lys425=) single nucleotide variant Malignant melanoma [RCV000059855] Chr1:12206909 [GRCh38]
Chr1:12266966 [GRCh37]
Chr1:12189553 [NCBI36]
Chr1:1p36.22		 not provided
GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1 copy number loss See cases [RCV000133779] Chr1:9064492..12666744 [GRCh38]
Chr1:9124551..12726755 [GRCh37]
Chr1:9047138..12649342 [NCBI36]
Chr1:1p36.23-36.21		 pathogenic
GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1 copy number loss See cases [RCV000135807] Chr1:8283694..12470133 [GRCh38]
Chr1:8343754..12530188 [GRCh37]
Chr1:8266341..12452775 [NCBI36]
Chr1:1p36.23-36.22		 pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1 copy number loss See cases [RCV000136695] Chr1:844347..12470133 [GRCh38]
Chr1:779727..12530188 [GRCh37]
Chr1:769590..12452775 [NCBI36]
Chr1:1p36.33-36.22		 pathogenic|likely pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1 copy number loss See cases [RCV000137461] Chr1:4898439..12911913 [GRCh38]
Chr1:4958499..12971757 [GRCh37]
Chr1:4858359..12894344 [NCBI36]
Chr1:1p36.32-36.21		 pathogenic
GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1 copy number loss See cases [RCV000137948] Chr1:6303641..15799093 [GRCh38]
Chr1:6363701..16125588 [GRCh37]
Chr1:6286288..15998175 [NCBI36]
Chr1:1p36.31-36.21		 pathogenic|likely benign
GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1 copy number loss See cases [RCV000140873] Chr1:9428538..15815791 [GRCh38]
Chr1:9488597..16142286 [GRCh37]
Chr1:9411184..16014873 [NCBI36]
Chr1:1p36.22-36.21		 pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3 copy number gain See cases [RCV000141823] Chr1:11021751..15236671 [GRCh38]
Chr1:11081808..15563167 [GRCh37]
Chr1:11004395..15435754 [NCBI36]
Chr1:1p36.22-36.21		 likely pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1 copy number loss See cases [RCV000141438] Chr1:10264397..15780840 [GRCh38]
Chr1:10324455..16107335 [GRCh37]
Chr1:10247042..15979922 [NCBI36]
Chr1:1p36.22-36.21		 pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3 copy number gain See cases [RCV000142906] Chr1:6554885..16056011 [GRCh38]
Chr1:6614945..16382506 [GRCh37]
Chr1:6537532..16255093 [NCBI36]
Chr1:1p36.31-36.13		 pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 copy number loss See cases [RCV000142771] Chr1:5363826..18360302 [GRCh38]
Chr1:5423886..18686796 [GRCh37]
Chr1:5323746..18559383 [NCBI36]
Chr1:1p36.31-36.13		 pathogenic
Single allele complex Breast ductal adenocarcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11		 uncertain significance
chr1:909238-16736132 complex variant complex Breast ductal adenocarcinoma [RCV000207094] Chr1:909238..16736132 [GRCh37]
Chr1:1p36.33-36.13		 uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1 copy number loss See cases [RCV000239416] Chr1:82154..12699337 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1 copy number loss See cases [RCV000240403] Chr1:746608..15077159 [GRCh37]
Chr1:1p36.33-36.21		 pathogenic
GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3 copy number gain See cases [RCV000240284] Chr1:8255222..12785220 [GRCh37]
Chr1:1p36.23-36.21		 likely pathogenic
GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1 copy number loss See cases [RCV000446359] Chr1:4558588..13187457 [GRCh37]
Chr1:1p36.32-36.21		 pathogenic
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 copy number loss See cases [RCV000446470] Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12		 pathogenic
GRCh37/hg19 1p36.22-36.21(chr1:10722955-12910774)x1 copy number loss See cases [RCV000510444] Chr1:10722955..12910774 [GRCh37]
Chr1:1p36.22-36.21		 likely pathogenic
GRCh37/hg19 1p36.22-36.21(chr1:11143298-13709344)x3 copy number gain See cases [RCV000510407] Chr1:11143298..13709344 [GRCh37]
Chr1:1p36.22-36.21		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.22-36.21(chr1:10722725-14267773)x1 copy number loss See cases [RCV000512501] Chr1:10722725..14267773 [GRCh37]
Chr1:1p36.22-36.21		 likely pathogenic
GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1 copy number loss See cases [RCV000512226] Chr1:8850514..16272383 [GRCh37]
Chr1:1p36.23-36.13		 likely pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1		 pathogenic
Single allele deletion Cerebellar dysfunction with variable cognitive and behavioral abnormalities [RCV000735904] Chr1:12030001..12898000 [GRCh37]
Chr1:1p36.22-36.21		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001066.3(TNFRSF1B):c.972G>C (p.Pro324=) single nucleotide variant not provided [RCV000940391] Chr1:12202038 [GRCh38]
Chr1:12262095 [GRCh37]
Chr1:1p36.22		 likely benign
NM_001066.3(TNFRSF1B):c.768C>T (p.Gly256=) single nucleotide variant not provided [RCV000941594] Chr1:12193079 [GRCh38]
Chr1:12253136 [GRCh37]
Chr1:1p36.22		 likely benign
NM_001066.3(TNFRSF1B):c.787+7C>A single nucleotide variant not provided [RCV000905625] Chr1:12193105 [GRCh38]
Chr1:12253162 [GRCh37]
Chr1:1p36.22		 likely benign
NM_001066.3(TNFRSF1B):c.543C>T (p.Pro181=) single nucleotide variant not provided [RCV000906114] Chr1:12192516 [GRCh38]
Chr1:12252573 [GRCh37]
Chr1:1p36.22		 benign
NM_001066.3(TNFRSF1B):c.608C>T (p.Thr203Met) single nucleotide variant not provided [RCV000921021] Chr1:12192919 [GRCh38]
Chr1:12252976 [GRCh37]
Chr1:1p36.22		 benign
GRCh37/hg19 1p36.22-36.21(chr1:11794553-12786444)x3 copy number gain See cases [RCV000790593] Chr1:11794553..12786444 [GRCh37]
Chr1:1p36.22-36.21		 pathogenic
NM_001066.3(TNFRSF1B):c.919A>G (p.Lys307Glu) single nucleotide variant not provided [RCV000960816] Chr1:12201985 [GRCh38]
Chr1:12262042 [GRCh37]
Chr1:1p36.22		 benign
NM_001066.3(TNFRSF1B):c.559G>A (p.Val187Met) single nucleotide variant not provided [RCV000909957] Chr1:12192870 [GRCh38]
Chr1:12252927 [GRCh37]
Chr1:1p36.22		 benign
NM_001066.3(TNFRSF1B):c.791T>C (p.Leu264Pro) single nucleotide variant not provided [RCV000961254] Chr1:12193958 [GRCh38]
Chr1:12254015 [GRCh37]
Chr1:1p36.22		 benign
GRCh37/hg19 1p36.22-36.21(chr1:11690766-12835739) copy number loss not provided [RCV000767547] Chr1:11690766..12835739 [GRCh37]
Chr1:1p36.22-36.21		 pathogenic
GRCh37/hg19 1p36.22-36.21(chr1:10246640-12841900)x1 copy number loss not provided [RCV000846372] Chr1:10246640..12841900 [GRCh37]
Chr1:1p36.22-36.21		 uncertain significance
NM_001066.3(TNFRSF1B):c.138T>C (p.Tyr46=) single nucleotide variant not provided [RCV000913901] Chr1:12188855 [GRCh38]
Chr1:12248912 [GRCh37]
Chr1:1p36.22		 likely benign
NM_001066.3(TNFRSF1B):c.587T>G (p.Met196Arg) single nucleotide variant Associated with severe COVID-19 disease [RCV003399150]|Susceptibility to severe coronavirus disease (COVID-19) [RCV001354054]|Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR2 [RCV001836993] Chr1:12192898 [GRCh38]
Chr1:12252955 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_001066.3(TNFRSF1B):c.*215C>T single nucleotide variant Associated with severe COVID-19 disease [RCV003399151]|Susceptibility to severe coronavirus disease (COVID-19) [RCV001354055]|Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR3 [RCV001836994] Chr1:12207235 [GRCh38]
Chr1:12267292 [GRCh37]
Chr1:1p36.22		 uncertain significance
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1 copy number loss not provided [RCV001832902] Chr1:849466..17525065 [GRCh37]
Chr1:1p36.33-36.13		 pathogenic
NC_000001.10:g.(?_8616514)_(12476900_?)dup duplication Immunodeficiency 14 [RCV001920571] Chr1:8616514..12476900 [GRCh37]
Chr1:1p36.23-36.22		 uncertain significance
NC_000001.10:g.(?_11850737)_(12569078_?)dup duplication not provided [RCV001877528] Chr1:11850737..12569078 [GRCh37]
Chr1:1p36.22		 uncertain significance
NC_000001.10:g.(?_6485016)_(12569078_?)del deletion not provided [RCV001940096] Chr1:6485016..12569078 [GRCh37]
Chr1:1p36.31-36.22		 uncertain significance
NC_000001.10:g.(?_9304994)_(12569078_?)dup duplication Charcot-Marie-Tooth disease type 2 [RCV003119499] Chr1:9304994..12569078 [GRCh37]
Chr1:1p36.22		 uncertain significance
NC_000001.11:g.10115497_16283149dup duplication not specified [RCV002286386] Chr1:10115497..16283149 [GRCh38]
Chr1:1p36.22-36.13		 likely pathogenic
GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1 copy number loss not provided [RCV002474779] Chr1:6758933..19287770 [GRCh37]
Chr1:1p36.31-36.13		 pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1 copy number loss not provided [RCV002473951] Chr1:849467..12448956 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
NM_001066.3(TNFRSF1B):c.1283G>A (p.Cys428Tyr) single nucleotide variant not specified [RCV004154094] Chr1:12206917 [GRCh38]
Chr1:12266974 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_001066.3(TNFRSF1B):c.1084C>T (p.Arg362Trp) single nucleotide variant not specified [RCV004082434] Chr1:12202150 [GRCh38]
Chr1:12262207 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_001066.3(TNFRSF1B):c.497C>T (p.Pro166Leu) single nucleotide variant not specified [RCV004237198] Chr1:12192470 [GRCh38]
Chr1:12252527 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_001066.3(TNFRSF1B):c.497C>G (p.Pro166Arg) single nucleotide variant not specified [RCV004119446] Chr1:12192470 [GRCh38]
Chr1:12252527 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_001066.3(TNFRSF1B):c.698C>A (p.Pro233His) single nucleotide variant not specified [RCV004113442] Chr1:12193009 [GRCh38]
Chr1:12253066 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_001066.3(TNFRSF1B):c.1303G>A (p.Glu435Lys) single nucleotide variant not specified [RCV004119159] Chr1:12206937 [GRCh38]
Chr1:12266994 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_001066.3(TNFRSF1B):c.602C>G (p.Thr201Arg) single nucleotide variant not specified [RCV004137587] Chr1:12192913 [GRCh38]
Chr1:12252970 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_001066.3(TNFRSF1B):c.1041G>C (p.Gln347His) single nucleotide variant not specified [RCV004163519] Chr1:12202107 [GRCh38]
Chr1:12262164 [GRCh37]
Chr1:1p36.22		 uncertain significance
NC_000001.10:g.4481271_20530242del deletion Chromosome 1p36 deletion syndrome [RCV003159574] Chr1:4481271..20530242 [GRCh37]
Chr1:1p36.32-36.12		 pathogenic
NM_001066.3(TNFRSF1B):c.925C>T (p.Arg309Trp) single nucleotide variant not specified [RCV004341325] Chr1:12201991 [GRCh38]
Chr1:12262048 [GRCh37]
Chr1:1p36.22		 uncertain significance
GRCh37/hg19 1p36.22(chr1:12055883-12441427)x1 copy number loss not provided [RCV003483050] Chr1:12055883..12441427 [GRCh37]
Chr1:1p36.22		 uncertain significance
GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1 copy number loss not specified [RCV003987128] Chr1:6330828..12910774 [GRCh37]
Chr1:1p36.31-36.21		 pathogenic
NM_001066.3(TNFRSF1B):c.80T>C (p.Val27Ala) single nucleotide variant not specified [RCV004473168] Chr1:12188797 [GRCh38]
Chr1:12248854 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_001066.3(TNFRSF1B):c.1062G>C (p.Glu354Asp) single nucleotide variant not specified [RCV004473166] Chr1:12202128 [GRCh38]
Chr1:12262185 [GRCh37]
Chr1:1p36.22		 uncertain significance
GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2 copy number loss not provided [RCV004577440] Chr1:4436802..22782007 [GRCh37]
Chr1:1p36.32-36.12		 pathogenic
NM_001066.3(TNFRSF1B):c.554G>C (p.Cys185Ser) single nucleotide variant not specified [RCV004687009] Chr1:12192865 [GRCh38]
Chr1:12252922 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_001066.3(TNFRSF1B):c.670T>C (p.Ser224Pro) single nucleotide variant not specified [RCV004473167] Chr1:12192981 [GRCh38]
Chr1:12253038 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_001066.3(TNFRSF1B):c.955C>G (p.Leu319Val) single nucleotide variant not specified [RCV004473169] Chr1:12202021 [GRCh38]
Chr1:12262078 [GRCh37]
Chr1:1p36.22		 uncertain significance
NM_001066.3(TNFRSF1B):c.1189T>G (p.Cys397Gly) single nucleotide variant not specified [RCV004682126] Chr1:12206823 [GRCh38]
Chr1:12266880 [GRCh37]
Chr1:1p36.22		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1975
Count of miRNA genes:910
Interacting mature miRNAs:1078
Transcripts:ENST00000376259, ENST00000489921, ENST00000492361, ENST00000536782
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298451OSTEAR17_HOsteoarthritis QTL 17 (human)2.40.0004Joint/bone inflammationosteoarthritis11125188105Human
597050772GWAS1146846_Hhypothyroidism QTL GWAS1146846 (human)0.0000002hypothyroidism11218951112189512Human
597033567GWAS1129641_Hblood protein measurement QTL GWAS1129641 (human)7e-08blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)11218707112187072Human
597228625GWAS1324699_Hblood protein measurement QTL GWAS1324699 (human)7e-310blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)11219300512193006Human
597279632GWAS1375706_Hhypothyroidism QTL GWAS1375706 (human)7e-10hypothyroidism11220386212203863Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human
596974426GWAS1093945_Htumor necrosis factor receptor II measurement QTL GWAS1093945 (human)2e-10tumor necrosis factor receptor II measurement11218203912182040Human
1576329MYI9_HMyocardial infarction susceptibility QTL 9 (human)12Myocardial infarction susceptibilityearly-onset1758550333585503Human
407110481GWAS759457_Heosinophil count QTL GWAS759457 (human)8e-22eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)11218611812186119Human
597301007GWAS1397081_Htumor necrosis factor receptor superfamily member 1B measurement QTL GWAS1397081 (human)3e-15tumor necrosis factor receptor superfamily member 1B measurement11219128412191285Human
597041665GWAS1137739_Htumor necrosis factor receptor superfamily member 1B measurement QTL GWAS1137739 (human)7e-14tumor necrosis factor receptor superfamily member 1B measurement11218376812183769Human
597432644GWAS1528718_Hprotein measurement QTL GWAS1528718 (human)4e-10protein measurement11219170812191709Human
1576325MYI1_HMyocardial infarction susceptibility QTL 1 (human)11.681e-12Myocardial infarction susceptibilityearly-onset1758550333585503Human
597231098GWAS1327172_Hblood protein measurement QTL GWAS1327172 (human)3e-439blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)11219013112190132Human
407041124GWAS690100_Hurate measurement, body mass index QTL GWAS690100 (human)0.000009urate measurement, body mass indexbody mass index (BMI) (CMO:0000105)11220653412206535Human
597251377GWAS1347451_Htumor necrosis factor receptor II measurement QTL GWAS1347451 (human)2e-10tumor necrosis factor receptor II measurement11218203912182040Human
1643380BW316_HBody weight QTL 316 (human)2.620.0002Body weightBMI1758550333585503Human
597181365GWAS1277439_Htumor necrosis factor receptor superfamily member 1B measurement QTL GWAS1277439 (human)4e-38tumor necrosis factor receptor superfamily member 1B measurement11218994712189948Human
597181366GWAS1277440_Htumor necrosis factor receptor superfamily member 1B measurement QTL GWAS1277440 (human)2e-23tumor necrosis factor receptor superfamily member 1B measurement11219113412191135Human
597216630GWAS1312704_Htumor necrosis factor receptor II measurement QTL GWAS1312704 (human)5e-50tumor necrosis factor receptor II measurement11219300512193006Human
597055205GWAS1151279_Heosinophil percentage of leukocytes QTL GWAS1151279 (human)6e-17eosinophil percentage of leukocytesblood eosinophil count to total leukocyte count ratio (CMO:0000369)11218611812186119Human
596979366GWAS1098885_Hhypothyroidism QTL GWAS1098885 (human)7e-10hypothyroidism11220386212203863Human
597316782GWAS1412856_Hvaginal microbiome measurement QTL GWAS1412856 (human)0.000002vaginal microbiome measurement11220866412208665Human
597235108GWAS1331182_Hblood protein measurement QTL GWAS1331182 (human)1e-266blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)11219013112190132Human
597054121GWAS1150195_Heosinophil count QTL GWAS1150195 (human)9e-18eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)11218611812186119Human

Markers in Region
RH63769  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,267,173 - 12,267,364UniSTSGRCh37
Build 36112,189,760 - 12,189,951RGDNCBI36
Celera111,380,366 - 11,380,557RGD
Cytogenetic Map1p36.22UniSTS
HuRef111,420,437 - 11,420,628UniSTS
GeneMap99-GB4 RH Map151.31UniSTS
GDB:315093  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,264,771 - 12,264,920UniSTSGRCh37
Build 36112,187,358 - 12,187,507RGDNCBI36
Celera111,377,964 - 11,378,113RGD
Cytogenetic Map1p36.22UniSTS
HuRef111,418,035 - 11,418,184UniSTS
SHGC-31494  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,267,163 - 12,267,363UniSTSGRCh37
Build 36112,189,750 - 12,189,950RGDNCBI36
Celera111,380,356 - 11,380,556RGD
Cytogenetic Map1p36.22UniSTS
HuRef111,420,427 - 11,420,627UniSTS
Stanford-G3 RH Map1624.0UniSTS
GeneMap99-GB4 RH Map151.31UniSTS
Whitehead-RH Map150.0UniSTS
NCBI RH Map183.5UniSTS
GeneMap99-G3 RH Map1624.0UniSTS
G15915  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,267,349 - 12,267,555UniSTSGRCh37
Build 36112,189,936 - 12,190,142RGDNCBI36
Celera111,380,542 - 11,380,748RGD
Cytogenetic Map1p36.22UniSTS
HuRef111,420,613 - 11,420,819UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2434 2788 2249 4969 1725 2336 6 623 1940 464 2266 7293 6464 51 3730 1 848 1740 1603 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB030949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB030950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB030951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB030952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL357835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY148473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY264804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY342040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS068584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU826615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GN344135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI179124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA362586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC726346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC726347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC726348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC726349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC726350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC726351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M32315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M35857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M55994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S63368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U53483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X80021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000376259   ⟹   ENSP00000365435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl112,166,991 - 12,209,220 (+)Ensembl
Ensembl Acc Id: ENST00000489921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl112,191,838 - 12,193,008 (+)Ensembl
Ensembl Acc Id: ENST00000492361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl112,167,003 - 12,209,228 (+)Ensembl
Ensembl Acc Id: ENST00000536782   ⟹   ENSP00000440425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl112,167,003 - 12,192,358 (+)Ensembl
RefSeq Acc Id: NM_001066   ⟹   NP_001057
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38112,166,991 - 12,209,220 (+)NCBI
GRCh37112,227,044 - 12,269,279 (+)NCBI
Build 36112,149,647 - 12,191,864 (+)NCBI Archive
HuRef111,380,310 - 11,422,542 (+)ENTREZGENE
CHM1_1112,214,947 - 12,257,256 (+)NCBI
T2T-CHM13v2.0111,711,114 - 11,753,352 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542060   ⟹   XP_011540362
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38112,166,991 - 12,209,220 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542063   ⟹   XP_011540365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38112,166,991 - 12,209,220 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047429422   ⟹   XP_047285378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38112,166,991 - 12,209,220 (+)NCBI
RefSeq Acc Id: XM_047429423   ⟹   XP_047285379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38112,187,439 - 12,209,220 (+)NCBI
RefSeq Acc Id: XM_047429424   ⟹   XP_047285380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38112,184,528 - 12,209,220 (+)NCBI
RefSeq Acc Id: XM_054338566   ⟹   XP_054194541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,711,114 - 11,753,352 (+)NCBI
RefSeq Acc Id: XM_054338567   ⟹   XP_054194542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,711,114 - 11,753,352 (+)NCBI
RefSeq Acc Id: XM_054338568   ⟹   XP_054194543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,731,568 - 11,753,352 (+)NCBI
RefSeq Acc Id: XM_054338569   ⟹   XP_054194544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,711,114 - 11,753,352 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001057 (Get FASTA)   NCBI Sequence Viewer  
  XP_011540362 (Get FASTA)   NCBI Sequence Viewer  
  XP_011540365 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285378 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285379 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285380 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194541 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194542 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194543 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194544 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36755 (Get FASTA)   NCBI Sequence Viewer  
  AAA59929 (Get FASTA)   NCBI Sequence Viewer  
  AAA63262 (Get FASTA)   NCBI Sequence Viewer  
  AAB19824 (Get FASTA)   NCBI Sequence Viewer  
  AAC50622 (Get FASTA)   NCBI Sequence Viewer  
  AAD14848 (Get FASTA)   NCBI Sequence Viewer  
  AAH11844 (Get FASTA)   NCBI Sequence Viewer  
  AAH42167 (Get FASTA)   NCBI Sequence Viewer  
  AAH52977 (Get FASTA)   NCBI Sequence Viewer  
  AAN72434 (Get FASTA)   NCBI Sequence Viewer  
  AAO89076 (Get FASTA)   NCBI Sequence Viewer  
  AAP88939 (Get FASTA)   NCBI Sequence Viewer  
  AAV38730 (Get FASTA)   NCBI Sequence Viewer  
  ACF47651 (Get FASTA)   NCBI Sequence Viewer  
  BAA89052 (Get FASTA)   NCBI Sequence Viewer  
  BAA89053 (Get FASTA)   NCBI Sequence Viewer  
  BAA89054 (Get FASTA)   NCBI Sequence Viewer  
  BAA89055 (Get FASTA)   NCBI Sequence Viewer  
  CAA56324 (Get FASTA)   NCBI Sequence Viewer  
  CAI84623 (Get FASTA)   NCBI Sequence Viewer  
  CAY56003 (Get FASTA)   NCBI Sequence Viewer  
  CBX53870 (Get FASTA)   NCBI Sequence Viewer  
  CCA94575 (Get FASTA)   NCBI Sequence Viewer  
  EAW71731 (Get FASTA)   NCBI Sequence Viewer  
  EAW71732 (Get FASTA)   NCBI Sequence Viewer  
  EAW71733 (Get FASTA)   NCBI Sequence Viewer  
  EAW71734 (Get FASTA)   NCBI Sequence Viewer  
  EAW71735 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000365435
  ENSP00000365435.3
  ENSP00000440425.1
GenBank Protein P20333 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001057   ⟸   NM_001066
- Peptide Label: precursor
- UniProtKB: P20333 (UniProtKB/Swiss-Prot),   Q6YI29 (UniProtKB/Swiss-Prot),   Q16042 (UniProtKB/Swiss-Prot),   B1AJZ3 (UniProtKB/Swiss-Prot),   Q9UIH1 (UniProtKB/Swiss-Prot),   Q8IVS6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011540362   ⟸   XM_011542060
- Peptide Label: isoform X1
- UniProtKB: Q8IVS6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011540365   ⟸   XM_011542063
- Peptide Label: isoform X4
- UniProtKB: Q8IVS6 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000365435   ⟸   ENST00000376259
Ensembl Acc Id: ENSP00000440425   ⟸   ENST00000536782
RefSeq Acc Id: XP_047285378   ⟸   XM_047429422
- Peptide Label: isoform X2
- UniProtKB: Q8IVS6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047285380   ⟸   XM_047429424
- Peptide Label: isoform X5
- UniProtKB: Q8IVS6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047285379   ⟸   XM_047429423
- Peptide Label: isoform X3
- UniProtKB: Q8IVS6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054194541   ⟸   XM_054338566
- Peptide Label: isoform X1
- UniProtKB: Q8IVS6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054194542   ⟸   XM_054338567
- Peptide Label: isoform X2
- UniProtKB: Q8IVS6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054194544   ⟸   XM_054338569
- Peptide Label: isoform X4
- UniProtKB: Q8IVS6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054194543   ⟸   XM_054338568
- Peptide Label: isoform X3
- UniProtKB: Q8IVS6 (UniProtKB/TrEMBL)
Protein Domains
TNFR-Cys

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P20333-F1-model_v2 AlphaFold P20333 1-461 view protein structure

Promoters
RGD ID:6787038
Promoter ID:HG_KWN:734
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:ENST00000400863,   OTTHUMT00000005133,   OTTHUMT00000005134,   UC009VNK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36112,149,469 - 12,149,969 (+)MPROMDB
RGD ID:6854142
Promoter ID:EPDNEW_H236
Type:initiation region
Name:TNFRSF1B_1
Description:TNF receptor superfamily member 1B
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
GRCh38112,166,991 - 12,167,051EPDNEW
RGD ID:6787036
Promoter ID:HG_KWN:735
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000005135
Position:
Human AssemblyChrPosition (strand)Source
Build 36112,174,171 - 12,174,671 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11917 AgrOrtholog
COSMIC TNFRSF1B COSMIC
Ensembl Genes ENSG00000028137 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000376259 ENTREZGENE
  ENST00000376259.7 UniProtKB/Swiss-Prot
  ENST00000536782.2 UniProtKB/TrEMBL
Gene3D-CATH Tumor Necrosis Factor Receptor, subunit A, domain 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000028137 GTEx
HGNC ID HGNC:11917 ENTREZGENE
Human Proteome Map TNFRSF1B Human Proteome Map
InterPro TNF_chemokine_rcpt-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNFR/NGFR_Cys_rich_reg UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNFR_1B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNFRSF1B_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7133 UniProtKB/Swiss-Prot
NCBI Gene 7133 ENTREZGENE
OMIM 191191 OMIM
PANTHER TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY MEMBER 1B UniProtKB/Swiss-Prot
  TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY MEMBER 1B UniProtKB/Swiss-Prot
  TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY MEMBER 1B UniProtKB/TrEMBL
  TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY MEMBER 1B UniProtKB/TrEMBL
Pfam TNFR_c6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36610 PharmGKB, RGD
PRINTS TNFACTORR1B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TNFR_NGFR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNFR_NGFR_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TNFR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP TNF receptor-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0K1RN68_HUMAN UniProtKB/TrEMBL
  B1AJZ3 ENTREZGENE
  B5A977_HUMAN UniProtKB/TrEMBL
  P20333 ENTREZGENE
  Q16042 ENTREZGENE
  Q6YI29 ENTREZGENE
  Q8IVS6 ENTREZGENE, UniProtKB/TrEMBL
  Q9UIH1 ENTREZGENE
  TNR1B_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B1AJZ3 UniProtKB/Swiss-Prot
  Q16042 UniProtKB/Swiss-Prot
  Q6YI29 UniProtKB/Swiss-Prot
  Q9UIH1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-30 TNFRSF1B  TNF receptor superfamily member 1B  TNFRSF1B  tumor necrosis factor receptor superfamily member 1B  Symbol and/or name change 5135510 APPROVED
2015-11-24 TNFRSF1B  tumor necrosis factor receptor superfamily member 1B  TNFRSF1B  tumor necrosis factor receptor superfamily, member 1B  Symbol and/or name change 5135510 APPROVED