FADD (Fas associated via death domain) - Rat Genome Database

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Gene: FADD (Fas associated via death domain) Homo sapiens
Analyze
Symbol: FADD
Name: Fas associated via death domain
RGD ID: 1345195
HGNC Page HGNC:3573
Description: Enables several functions, including caspase binding activity; death effector domain binding activity; and identical protein binding activity. Involved in several processes, including extrinsic apoptotic signaling pathway; positive regulation of macromolecule metabolic process; and positive regulation of signal transduction. Located in cytosol and plasma membrane. Part of CD95 death-inducing signaling complex and ripoptosome. Implicated in leukemia and primary immunodeficiency disease. Biomarker of Alzheimer's disease and acute myeloid leukemia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Fas (TNFRSF6)-associated via death domain; FAS-associated death domain protein; Fas-associating death domain-containing protein; Fas-associating protein with death domain; GIG3; growth-inhibiting gene 3 protein; IMD90; mediator of receptor induced toxicity; mediator of receptor-induced toxicity; MGC8528; MORT1
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
GRCh381170,203,296 - 70,207,390 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1170,203,296 - 70,207,390 (+)EnsemblGRCh38hg38GRCh38
GRCh371170,049,402 - 70,053,496 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361169,726,917 - 69,731,144 (+)NCBINCBI36Build 36hg18NCBI36
Build 341169,726,916 - 69,731,134NCBI
Celera1167,315,851 - 67,320,090 (+)NCBICelera
Cytogenetic Map11q13.3NCBI
HuRef1166,308,990 - 66,313,229 (+)NCBIHuRef
CHM1_11169,932,172 - 69,936,414 (+)NCBICHM1_1
T2T-CHM13v2.01170,218,250 - 70,222,344 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(S)-naringenin  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-D  (ISO)
2,4-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3,5-dichloro-N-[[(2S)-1-ethyl-2-pyrrolidinyl]methyl]-2-hydroxy-6-methoxybenzamide  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-nitrophenol  (ISO)
5,7-dihydroxy-4'-methoxyflavone  (EXP)
5-aminolevulinic acid  (EXP)
5-aza-2'-deoxycytidine  (ISO)
5-fluorouracil  (EXP)
aconitine  (ISO)
acrylamide  (ISO)
actinomycin D  (EXP)
adenosine  (EXP)
aflatoxin B1  (EXP)
all-trans-acitretin  (EXP)
all-trans-retinoic acid  (EXP)
Aloe emodin  (EXP)
ammonium chloride  (ISO)
anthocyanin  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
arachidonic acid  (EXP)
arecoline  (ISO)
arsenous acid  (EXP)
atorvastatin calcium  (ISO)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
Beta-Solamarine  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium dichloride  (ISO)
cadmium sulfide  (EXP)
caffeine  (EXP)
cannabidiol  (EXP)
capsaicin  (ISO)
casticin  (EXP)
celecoxib  (EXP)
cholesterol  (ISO)
cisplatin  (ISO)
cocaine  (ISO)
coenzyme Q10  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumarin  (EXP)
curcumin  (EXP)
cyclosporin A  (EXP)
Destruxin B  (EXP)
diarsenic trioxide  (EXP)
diazinon  (EXP)
dibutyl phthalate  (ISO)
dieldrin  (ISO)
diethylstilbestrol  (ISO)
Dimethyl phthalate  (ISO)
dioscin  (EXP)
dioxygen  (EXP)
dipyridamole  (EXP)
doxorubicin  (EXP,ISO)
edaravone  (ISO)
elemental selenium  (EXP)
emodin  (ISO)
endosulfan  (EXP,ISO)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fenthion  (ISO)
ferrosoferric oxide  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
fructose  (ISO)
furosemide  (ISO)
genistein  (EXP)
gentamycin  (ISO)
hydrogen peroxide  (ISO)
hydroquinone  (EXP)
iron dichloride  (EXP)
isoflurane  (ISO)
ivermectin  (EXP)
leflunomide  (EXP)
lipopolysaccharide  (EXP,ISO)
magnesium oxide  (EXP)
mercury dichloride  (ISO)
methidathion  (ISO)
methimazole  (ISO)
ML-7  (EXP)
morin  (EXP)
motexafin gadolinium  (EXP)
Myrtucommulone A  (ISO)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (EXP)
N-acetyl-L-cysteine  (ISO)
naproxen  (ISO)
naringin  (EXP)
nystatin  (EXP)
o-anisidine  (EXP)
obeticholic acid  (EXP)
ochratoxin A  (EXP)
osthole  (EXP)
ouabain  (EXP)
ozone  (EXP)
p-menthan-3-ol  (EXP)
paclitaxel  (EXP)
Panduratin A  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP)
PCB138  (EXP)
potassium chromate  (EXP)
probenecid  (ISO)
progesterone  (ISO)
propylparaben  (EXP)
pyrethrins  (EXP)
quercetin  (EXP)
raloxifene  (EXP)
reactive oxygen species  (ISO)
resveratrol  (EXP)
rutin  (ISO)
S-allylcysteine  (EXP)
SB 203580  (EXP)
SCH 23390  (ISO)
selenium atom  (EXP)
sodium arsenite  (EXP,ISO)
sorafenib  (EXP)
streptozocin  (ISO)
Suillin  (EXP)
sumatriptan  (ISO)
sunitinib  (EXP)
syringic acid  (EXP)
tamoxifen  (EXP)
temozolomide  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (EXP)
Tomentosin  (EXP)
triamcinolone acetonide  (ISO)
trichloroethene  (ISO)
urethane  (ISO)
ursodeoxycholic acid  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)
zinc acetate  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
apoptotic process  (IEA,IMP)
apoptotic signaling pathway  (IDA)
behavioral response to cocaine  (IEA,ISO)
cellular response to mechanical stimulus  (IEP)
death-inducing signaling complex assembly  (IDA)
defense response to virus  (IMP)
extrinsic apoptotic signaling pathway  (IBA,IDA,IEA,IMP,ISO,TAS)
extrinsic apoptotic signaling pathway in absence of ligand  (IEA,ISO)
extrinsic apoptotic signaling pathway via death domain receptors  (IDA,TAS)
innate immune response  (IEA)
kidney development  (IEA,ISO)
lymph node development  (IEA,ISS)
motor neuron apoptotic process  (IEA,ISO)
necroptotic signaling pathway  (IMP)
negative regulation of activation-induced cell death of T cells  (IEA,ISS)
negative regulation of necroptotic process  (IEA,ISO)
positive regulation of activated T cell proliferation  (IEA,ISS)
positive regulation of adaptive immune response  (IEA,ISS)
positive regulation of apoptotic process  (IDA,IMP)
positive regulation of canonical NF-kappaB signal transduction  (IEP)
positive regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation  (IEA,ISS)
positive regulation of execution phase of apoptosis  (IEA)
positive regulation of extrinsic apoptotic signaling pathway  (IEA,IMP,ISO)
positive regulation of innate immune response  (IBA)
positive regulation of interleukin-8 production  (IDA)
positive regulation of macrophage differentiation  (IMP)
positive regulation of proteolysis  (IDA)
positive regulation of T cell mediated cytotoxicity  (IEA,ISS)
positive regulation of transcription by RNA polymerase II  (IDA)
positive regulation of tumor necrosis factor production  (IDA)
positive regulation of type I interferon-mediated signaling pathway  (IMP)
positive regulation of type II interferon production  (IEA,ISS)
regulation of apoptotic process  (IEA)
regulation of necroptotic process  (IEA,ISO)
response to cocaine  (IEA,ISO)
signal transduction  (IEA)
spleen development  (IEA,ISS)
T cell differentiation in thymus  (IEA,ISS)
T cell homeostasis  (IEA,ISS)
thymus development  (IEA,ISS)
TRAIL-activated apoptotic signaling pathway  (IDA)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. T11TS Treatment Augments Apoptosis of Glioma Associated Brain Endothelial Cells, Hint Toward Anti-Angiogenic Action in Glioma. Bhattacharya D, etal., J Cell Physiol. 2017 Mar;232(3):526-539. doi: 10.1002/jcp.25447. Epub 2016 Jun 21.
2. Expression and localization of Fas-associated proteins following focal cerebral ischemia in rats. Bi FF, etal., Brain Res. 2008 Jan 29;1191:30-8. Epub 2007 Nov 12.
3. Pretreatment with low-dose gadolinium chloride attenuates myocardial ischemia/reperfusion injury in rats. Chen M, etal., Acta Pharmacol Sin. 2016 Apr;37(4):453-62. doi: 10.1038/aps.2015.156. Epub 2016 Mar 7.
4. Activated apoptotic and anti-survival effects on rat hearts with fructose induced metabolic syndrome. Cheng SM, etal., Cell Biochem Funct. 2014 Mar;32(2):133-41. doi: 10.1002/cbf.2982. Epub 2013 May 9.
5. Effect of infliximab combined with methylprednisolone on expressions of NF-kappaB, TRADD, and FADD in rat acute spinal cord injury. Chengke L, etal., Spine (Phila Pa 1976). 2013 Jun 15;38(14):E861-9. doi: 10.1097/BRS.0b013e318294892c.
6. Anti-apoptotic and pro-survival effect of protocatechuic acid on hypertensive hearts. Deng JS, etal., Chem Biol Interact. 2014 Feb 25;209:77-84. doi: 10.1016/j.cbi.2013.11.017. Epub 2013 Dec 17.
7. A critical role for Fas/CD-95 dependent signaling pathways in the pathogenesis of hyperoxia-induced brain injury. Dzietko M, etal., Ann Neurol. 2008 Dec;64(6):664-73. doi: 10.1002/ana.21516.
8. TRAIL signalling: decisions between life and death. Falschlehner C, etal., Int J Biochem Cell Biol. 2007;39(7-8):1462-75. Epub 2007 Feb 14.
9. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
10. Hepato-protective effect of rutin via IL-6/STAT3 pathway in CCl4-induced hepatotoxicity in rats. Hafez MM, etal., Biol Res. 2015 Jun 11;48:30. doi: 10.1186/s40659-015-0022-y.
11. Common variation in genes related to immune response and risk of childhood leukemia. Han S, etal., Hum Immunol. 2012 Mar;73(3):316-9. doi: 10.1016/j.humimm.2011.12.018. Epub 2011 Dec 28.
12. Improved age-related deficits in cognitive performance and affective-like behavior following acute, but not repeated, 8-OH-DPAT treatments in rats: regulation of hippocampal FADD. Hernández-Hernández E, etal., Neurobiol Aging. 2018 Jul 29;71:115-126. doi: 10.1016/j.neurobiolaging.2018.07.014.
13. Estrogen inhibits Fas-mediated apoptosis in experimental stroke. Jia J, etal., Exp Neurol. 2009 Jan;215(1):48-52. doi: 10.1016/j.expneurol.2008.09.015. Epub 2008 Oct 7.
14. Rice Hull Extract Suppresses Benign Prostate Hyperplasia by Decreasing Inflammation and Regulating Cell Proliferation in Rats. Kim CY, etal., J Med Food. 2016 Aug;19(8):746-54. doi: 10.1089/jmf.2016.3686. Epub 2016 Jul 21.
15. Role of heme oxygenase 1 in TNF/TNF receptor-mediated apoptosis after hepatic ischemia/reperfusion in rats. Kim SJ, etal., Shock. 2013 Apr;39(4):380-8. doi: 10.1097/SHK.0b013e31828aab7f.
16. The coexistence of nocturnal sustained hypoxia and obesity additively increases cardiac apoptosis. Lee SD, etal., J Appl Physiol. 2008 Apr;104(4):1144-53. Epub 2008 Jan 17.
17. Edaravone attenuates neuronal apoptosis in hypoxic-ischemic brain damage rat model via suppression of TRAIL signaling pathway. Li C, etal., Int J Biochem Cell Biol. 2018 Jun;99:169-177. doi: 10.1016/j.biocel.2018.03.020. Epub 2018 Apr 7.
18. Effect of Danshen aqueous extract on serum hs-CRP, IL-8, IL-10, TNF-alpha levels, and IL-10 mRNA, TNF-alpha mRNA expression levels, cerebral TGF-beta1 positive expression level and its neuroprotective mechanisms in CIR rats. Liang XY, etal., Mol Biol Rep. 2013 Apr;40(4):3419-27. doi: 10.1007/s11033-012-2419-9. Epub 2013 Feb 2.
19. Anti-apoptotic and Pro-survival Effects of Food Restriction on High-Fat Diet-Induced Obese Hearts. Lin YY, etal., Cardiovasc Toxicol. 2017 Apr;17(2):163-174. doi: 10.1007/s12012-016-9370-2.
20. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
21. Effect of superoxide anion scavenger on rat hearts with chronic intermittent hypoxia. Pai P, etal., J Appl Physiol (1985). 2016 Apr 15;120(8):982-90. doi: 10.1152/japplphysiol.01109.2014. Epub 2016 Jan 14.
22. Playing the DISC: turning on TRAIL death receptor-mediated apoptosis in cancer. Pennarun B, etal., Biochim Biophys Acta. 2010 Apr;1805(2):123-40. Epub 2009 Dec 2.
23. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
24. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
25. Correlation of rat cortical Fas-associated death domain (FADD) protein phosphorylation with the severity of spontaneous morphine abstinence syndrome: role of alpha(2)-adrenoceptors and extracellular signal-regulated kinases. Ramos-Miguel A, etal., J Psychopharmacol. 2011 Dec;25(12):1691-702. doi: 10.1177/0269881110387842. Epub 2010 Nov 18.
26. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
27. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
28. The many roles of FAS receptor signaling in the immune system. Strasser A, etal., Immunity. 2009 Feb 20;30(2):180-92.
29. Absence or low expression of fas-associated protein with death domain in acute myeloid leukemia cells predicts resistance to chemotherapy and poor outcome. Tourneur L, etal., Cancer Res. 2004 Nov 1;64(21):8101-8.
30. Tumor necrosis factor signaling. Wajant H, etal., Cell Death Differ. 2003 Jan;10(1):45-65.
31. Dominant negative FADD dissipates the proapoptotic signalosome of the unfolded protein response in diabetic embryopathy. Wang F, etal., Am J Physiol Endocrinol Metab. 2015 Nov 15;309(10):E861-73. doi: 10.1152/ajpendo.00215.2015. Epub 2015 Sep 29.
32. MicroRNA-103/107 Regulate Programmed Necrosis and Myocardial Ischemia/Reperfusion Injury Through Targeting FADD. Wang JX, etal., Circ Res. 2015 Jul 31;117(4):352-63. doi: 10.1161/CIRCRESAHA.117.305781. Epub 2015 Jun 2.
33. Apoptotic signals within the basal forebrain cholinergic neurons in Alzheimer's disease. Wu CK, etal., Exp Neurol. 2005 Oct;195(2):484-96. doi: 10.1016/j.expneurol.2005.06.020.
34. Sodium hydrosulfide alleviates lung inflammation and cell apoptosis following resuscitated hemorrhagic shock in rats. Xu DQ, etal., Acta Pharmacol Sin. 2013 Dec;34(12):1515-25. doi: 10.1038/aps.2013.96. Epub 2013 Oct 14.
35. Anti-apoptosis effects on hearts of SHSST cyclodextrin complex in a carbon tetrachloride-induced cirrhotic cardiomyopathy rat model. Yang CH, etal., Chin J Physiol. 2015 Feb 28;58(1):38-45. doi: 10.4077/CJP.2015.BAD286.
36. Anti-apoptotic effect of San Huang Shel Shin Tang cyclodextrin complex (SHSSTc) on CCl -induced hepatotoxicity in rats. Yang CH, etal., Environ Toxicol. 2014 Nov 28. doi: 10.1002/tox.22078.
Additional References at PubMed
PMID:7536190   PMID:7538907   PMID:8565075   PMID:8681376   PMID:8955195   PMID:8967952   PMID:9037025   PMID:9045686   PMID:9082980   PMID:9208847   PMID:9215629   PMID:9228018  
PMID:9325248   PMID:9326610   PMID:9343261   PMID:9430227   PMID:9521326   PMID:9560245   PMID:9582077   PMID:9721089   PMID:9774341   PMID:9990010   PMID:10235259   PMID:10442631  
PMID:10493725   PMID:10542291   PMID:10545115   PMID:10640736   PMID:10825539   PMID:10848577   PMID:10880445   PMID:10894160   PMID:10911999   PMID:11002422   PMID:11034606   PMID:11035039  
PMID:11048727   PMID:11101870   PMID:11112409   PMID:11353862   PMID:11376335   PMID:11395500   PMID:11717445   PMID:11739185   PMID:11740202   PMID:11741985   PMID:11752160   PMID:11753396  
PMID:11805265   PMID:11821383   PMID:11828002   PMID:11854271   PMID:11859150   PMID:11877464   PMID:11940602   PMID:11965497   PMID:11975981   PMID:12037669   PMID:12107169   PMID:12122017  
PMID:12196516   PMID:12198154   PMID:12220669   PMID:12235128   PMID:12477932   PMID:12482751   PMID:12496482   PMID:12499380   PMID:12604344   PMID:12684039   PMID:12702723   PMID:12702765  
PMID:12721308   PMID:12753742   PMID:12761501   PMID:12796506   PMID:12815462   PMID:12851487   PMID:12887920   PMID:12911633   PMID:12954630   PMID:14573612   PMID:14612908   PMID:14644197  
PMID:14694156   PMID:15034549   PMID:15048887   PMID:15069192   PMID:15073179   PMID:15173180   PMID:15207703   PMID:15280356   PMID:15383280   PMID:15388581   PMID:15452117   PMID:15452120  
PMID:15485835   PMID:15489334   PMID:15601308   PMID:15645452   PMID:15659383   PMID:15665818   PMID:15688372   PMID:15761471   PMID:15778222   PMID:15782135   PMID:15849201   PMID:15916534  
PMID:15956881   PMID:16003390   PMID:16006552   PMID:16061179   PMID:16109772   PMID:16127453   PMID:16169070   PMID:16177127   PMID:16227629   PMID:16258269   PMID:16289096   PMID:16339514  
PMID:16360037   PMID:16410793   PMID:16450001   PMID:16498403   PMID:16528386   PMID:16538383   PMID:16554480   PMID:16611992   PMID:16710361   PMID:16762833   PMID:16844082   PMID:16871589  
PMID:16919273   PMID:16937440   PMID:17031492   PMID:17047155   PMID:17159907   PMID:17235653   PMID:17290218   PMID:17360386   PMID:17511679   PMID:17656375   PMID:17911615   PMID:17975136  
PMID:17977957   PMID:18029348   PMID:18174230   PMID:18309324   PMID:18328427   PMID:18387192   PMID:18485876   PMID:18632871   PMID:18632964   PMID:18813792   PMID:18840411   PMID:18846110  
PMID:19060883   PMID:19074885   PMID:19118384   PMID:19125371   PMID:19176810   PMID:19303913   PMID:19336038   PMID:19362094   PMID:19364499   PMID:19373245   PMID:19415536   PMID:19432816  
PMID:19453261   PMID:19483105   PMID:19524512   PMID:19524513   PMID:19557578   PMID:19573080   PMID:19583773   PMID:19593445   PMID:19773279   PMID:19955841   PMID:20040024   PMID:20070122  
PMID:20103630   PMID:20353946   PMID:20420860   PMID:20438666   PMID:20448643   PMID:20484047   PMID:20568250   PMID:20588308   PMID:20802294   PMID:20829884   PMID:20876301   PMID:20890306  
PMID:20935634   PMID:20943999   PMID:20947025   PMID:21048031   PMID:21052097   PMID:21109225   PMID:21115735   PMID:21183682   PMID:21315423   PMID:21382479   PMID:21458669   PMID:21525013  
PMID:21613217   PMID:21620750   PMID:21625644   PMID:21706480   PMID:21713032   PMID:21724995   PMID:21737329   PMID:21737330   PMID:21785459   PMID:21803845   PMID:21822306   PMID:21873635  
PMID:21894190   PMID:21900206   PMID:21978935   PMID:21979465   PMID:21988832   PMID:22126763   PMID:22130896   PMID:22173242   PMID:22179575   PMID:22253026   PMID:22266862   PMID:22274400  
PMID:22297296   PMID:22322857   PMID:22510408   PMID:22585859   PMID:22838074   PMID:22848449   PMID:22864571   PMID:22891283   PMID:22922561   PMID:23096115   PMID:23142077   PMID:23429285  
PMID:23606538   PMID:23744296   PMID:23760276   PMID:23763459   PMID:23955153   PMID:23972990   PMID:24025841   PMID:24098568   PMID:24316133   PMID:24355299   PMID:24434721   PMID:24577083  
PMID:24603611   PMID:24686082   PMID:24752353   PMID:24886289   PMID:24901053   PMID:24980434   PMID:25043603   PMID:25075716   PMID:25129245   PMID:25241761   PMID:25305096   PMID:25502805  
PMID:25551360   PMID:25643035   PMID:25911380   PMID:25939870   PMID:26186194   PMID:26253696   PMID:26344197   PMID:26416459   PMID:26437781   PMID:26733177   PMID:26786097   PMID:26808319  
PMID:26865630   PMID:26942442   PMID:26972597   PMID:26995783   PMID:27013580   PMID:27213693   PMID:27321185   PMID:27552911   PMID:27556297   PMID:27560715   PMID:27619661   PMID:27746017  
PMID:27764170   PMID:27799292   PMID:27810922   PMID:27974463   PMID:28061540   PMID:28189684   PMID:28212752   PMID:28302628   PMID:28320441   PMID:28393201   PMID:28514442   PMID:28860194  
PMID:28972304   PMID:29274253   PMID:29472595   PMID:29497034   PMID:29795330   PMID:30021884   PMID:30190126   PMID:30354994   PMID:30401514   PMID:30420664   PMID:30536547   PMID:30561431  
PMID:30628514   PMID:30762338   PMID:30804327   PMID:30805584   PMID:31046799   PMID:31239234   PMID:31266804   PMID:31443721   PMID:31515488   PMID:32024820   PMID:32191993   PMID:32296183  
PMID:32303335   PMID:32313199   PMID:32350755   PMID:32368989   PMID:32707033   PMID:33009373   PMID:33104018   PMID:33469115   PMID:33547302   PMID:33800107   PMID:33961781   PMID:34423028  
PMID:34591612   PMID:34839354   PMID:34853447   PMID:35044632   PMID:35637951   PMID:35831314   PMID:35941131   PMID:35944360   PMID:36215168   PMID:36281535   PMID:36499482   PMID:36813950  
PMID:37146968   PMID:37793571   PMID:37979702  


Genomics

Comparative Map Data
FADD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381170,203,296 - 70,207,390 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1170,203,296 - 70,207,390 (+)EnsemblGRCh38hg38GRCh38
GRCh371170,049,402 - 70,053,496 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361169,726,917 - 69,731,144 (+)NCBINCBI36Build 36hg18NCBI36
Build 341169,726,916 - 69,731,134NCBI
Celera1167,315,851 - 67,320,090 (+)NCBICelera
Cytogenetic Map11q13.3NCBI
HuRef1166,308,990 - 66,313,229 (+)NCBIHuRef
CHM1_11169,932,172 - 69,936,414 (+)NCBICHM1_1
T2T-CHM13v2.01170,218,250 - 70,222,344 (+)NCBIT2T-CHM13v2.0
Fadd
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397144,132,060 - 144,136,178 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7144,131,055 - 144,136,200 (-)EnsemblGRCm39 Ensembl
GRCm387144,578,323 - 144,582,441 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7144,577,318 - 144,582,463 (-)EnsemblGRCm38mm10GRCm38
MGSCv377151,764,228 - 151,768,341 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367144,387,713 - 144,391,826 (-)NCBIMGSCv36mm8
Celera7144,342,191 - 144,346,305 (-)NCBICelera
Cytogenetic Map7F5NCBI
cM Map788.85NCBI
Fadd
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81209,169,245 - 209,175,423 (-)NCBIGRCr8
mRatBN7.21199,743,200 - 199,745,746 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1199,739,994 - 199,745,653 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1208,126,497 - 208,128,902 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01215,210,505 - 215,212,909 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01207,884,688 - 207,887,092 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01217,746,176 - 217,748,581 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1217,742,929 - 217,748,628 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01224,603,556 - 224,605,961 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41205,010,363 - 205,012,768 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11205,163,017 - 205,166,234 (-)NCBI
Celera1197,302,715 - 197,305,120 (-)NCBICelera
Cytogenetic Map1q42NCBI
Fadd
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542216,031,280 - 16,036,281 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542216,026,323 - 16,035,808 (-)NCBIChiLan1.0ChiLan1.0
FADD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2971,170,462 - 71,177,552 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11172,214,724 - 72,218,869 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01165,300,889 - 65,305,020 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11168,590,184 - 68,593,905 (+)NCBIpanpan1.1PanPan1.1panPan2
FADD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11848,087,447 - 48,094,497 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1846,692,062 - 46,704,606 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01848,765,020 - 48,771,948 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1848,765,607 - 48,771,913 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11848,212,163 - 48,219,087 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01847,792,264 - 47,804,830 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01848,543,968 - 48,550,895 (-)NCBIUU_Cfam_GSD_1.0
Fadd
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049474,192,521 - 4,197,087 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936599633,330 - 639,456 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936599633,501 - 639,412 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FADD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl23,185,675 - 3,194,818 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.123,191,718 - 3,194,820 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.221,388,619 - 1,389,394 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FADD
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.114,358,314 - 4,361,863 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666038101,642,664 - 101,647,269 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fadd
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476717,055,509 - 17,059,705 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476717,050,929 - 17,059,648 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FADD
115 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003824.4(FADD):c.315T>G (p.Cys105Trp) single nucleotide variant FADD-related immunodeficiency [RCV001787029] Chr11:70206161 [GRCh38]
Chr11:70052267 [GRCh37]
Chr11:11q13.3		 pathogenic
NM_003824.4(FADD):c.475G>A (p.Ala159Thr) single nucleotide variant FADD-related immunodeficiency [RCV000546773] Chr11:70206321 [GRCh38]
Chr11:70052427 [GRCh37]
Chr11:11q13.3		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1 copy number loss See cases [RCV000142138] Chr11:68031693..71593495 [GRCh38]
Chr11:67799160..71304541 [GRCh37]
Chr11:67555736..70982189 [NCBI36]
Chr11:11q13.2-13.4		 likely pathogenic
GRCh37/hg19 11q13.2-13.4(chr11:67799160-70701268)x1 copy number loss See cases [RCV000510219] Chr11:67799160..70701268 [GRCh37]
Chr11:11q13.2-13.4		 likely pathogenic
NM_003824.4(FADD):c.287-8C>G single nucleotide variant FADD-related immunodeficiency [RCV001482797] Chr11:70206125 [GRCh38]
Chr11:70052231 [GRCh37]
Chr11:11q13.3		 likely benign
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_003824.4(FADD):c.478C>T (p.His160Tyr) single nucleotide variant Inborn genetic diseases [RCV003284516] Chr11:70206324 [GRCh38]
Chr11:70052430 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.93G>T (p.Val31=) single nucleotide variant FADD-related immunodeficiency [RCV000557062] Chr11:70203552 [GRCh38]
Chr11:70049658 [GRCh37]
Chr11:11q13.3		 benign
NM_003824.4(FADD):c.168G>T (p.Glu56Asp) single nucleotide variant FADD-related immunodeficiency [RCV000648704] Chr11:70203627 [GRCh38]
Chr11:70049733 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.452C>T (p.Thr151Ile) single nucleotide variant FADD-related immunodeficiency [RCV000697328] Chr11:70206298 [GRCh38]
Chr11:70052404 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.31G>A (p.Val11Met) single nucleotide variant FADD-related immunodeficiency [RCV000702690] Chr11:70203490 [GRCh38]
Chr11:70049596 [GRCh37]
Chr11:11q13.3		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q13.3(chr11:69970412-70056193)x1 copy number loss not provided [RCV000750104] Chr11:69970412..70056193 [GRCh37]
Chr11:11q13.3		 benign
NM_003824.4(FADD):c.186C>G (p.Leu62=) single nucleotide variant FADD-related immunodeficiency [RCV000960524] Chr11:70203645 [GRCh38]
Chr11:70049751 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.616G>A (p.Glu206Lys) single nucleotide variant FADD-related immunodeficiency [RCV000960569] Chr11:70206462 [GRCh38]
Chr11:70052568 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.307G>A (p.Val103Ile) single nucleotide variant FADD-related immunodeficiency [RCV000816750] Chr11:70206153 [GRCh38]
Chr11:70052259 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.306C>G (p.Asn102Lys) single nucleotide variant FADD-related immunodeficiency [RCV000792935] Chr11:70206152 [GRCh38]
Chr11:70052258 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.439A>G (p.Ile147Val) single nucleotide variant FADD-related immunodeficiency [RCV000819841] Chr11:70206285 [GRCh38]
Chr11:70052391 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.558C>G (p.Leu186=) single nucleotide variant not provided [RCV000979301] Chr11:70206404 [GRCh38]
Chr11:70052510 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.350G>A (p.Arg117His) single nucleotide variant FADD-related immunodeficiency [RCV001858795]|not provided [RCV000994680] Chr11:70206196 [GRCh38]
Chr11:70052302 [GRCh37]
Chr11:11q13.3		 likely pathogenic|uncertain significance
NM_003824.4(FADD):c.248A>G (p.Glu83Gly) single nucleotide variant FADD-related immunodeficiency [RCV001227141] Chr11:70203707 [GRCh38]
Chr11:70049813 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.51C>G (p.Ser17Arg) single nucleotide variant FADD-related immunodeficiency [RCV001226204] Chr11:70203510 [GRCh38]
Chr11:70049616 [GRCh37]
Chr11:11q13.3		 uncertain significance
GRCh37/hg19 11q13.3-13.4(chr11:69849324-70478959)x3 copy number gain not provided [RCV000846557] Chr11:69849324..70478959 [GRCh37]
Chr11:11q13.3-13.4		 uncertain significance
NC_000011.9:g.(?_64973914)_(70052579_?)dup duplication Aicardi-Goutieres syndrome 3 [RCV003113322]|FADD-related immunodeficiency [RCV003107753] Chr11:64973914..70052579 [GRCh37]
Chr11:11q13.1-13.3		 uncertain significance
NC_000011.10:g.70203190G>A single nucleotide variant not provided [RCV001720645] Chr11:70203190 [GRCh38]
Chr11:70049296 [GRCh37]
Chr11:11q13.3		 benign
NM_003824.4(FADD):c.9G>T (p.Pro3=) single nucleotide variant FADD-related immunodeficiency [RCV000885889] Chr11:70203468 [GRCh38]
Chr11:70049574 [GRCh37]
Chr11:11q13.3		 benign
NM_003824.4(FADD):c.615C>T (p.Ser205=) single nucleotide variant FADD-related immunodeficiency [RCV001423419] Chr11:70206461 [GRCh38]
Chr11:70052567 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.111G>A (p.Glu37=) single nucleotide variant FADD-related immunodeficiency [RCV000919010] Chr11:70203570 [GRCh38]
Chr11:70049676 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.378C>G (p.Ile126Met) single nucleotide variant FADD-related immunodeficiency [RCV001216818] Chr11:70206224 [GRCh38]
Chr11:70052330 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.174G>C (p.Gly58=) single nucleotide variant FADD-related immunodeficiency [RCV001422979] Chr11:70203633 [GRCh38]
Chr11:70049739 [GRCh37]
Chr11:11q13.3		 likely benign
NC_000011.10:g.70203147T>C single nucleotide variant not provided [RCV001720600] Chr11:70203147 [GRCh38]
Chr11:70049253 [GRCh37]
Chr11:11q13.3		 benign
NM_003824.4(FADD):c.287-49T>C single nucleotide variant not provided [RCV001657417] Chr11:70206084 [GRCh38]
Chr11:70052190 [GRCh37]
Chr11:11q13.3		 benign
NM_003824.4(FADD):c.324G>A (p.Val108=) single nucleotide variant FADD-related immunodeficiency [RCV001046836] Chr11:70206170 [GRCh38]
Chr11:70052276 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.276T>G (p.Pro92=) single nucleotide variant not provided [RCV001703266] Chr11:70203735 [GRCh38]
Chr11:70049841 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.52A>C (p.Ser18Arg) single nucleotide variant FADD-related immunodeficiency [RCV001203753] Chr11:70203511 [GRCh38]
Chr11:70049617 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.152A>G (p.Glu51Gly) single nucleotide variant FADD-related immunodeficiency [RCV001304574] Chr11:70203611 [GRCh38]
Chr11:70049717 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.397T>C (p.Tyr133His) single nucleotide variant FADD-related immunodeficiency [RCV001307441] Chr11:70206243 [GRCh38]
Chr11:70052349 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.304A>C (p.Asn102His) single nucleotide variant FADD-related immunodeficiency [RCV001306433] Chr11:70206150 [GRCh38]
Chr11:70052256 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.313T>C (p.Cys105Arg) single nucleotide variant FADD-related immunodeficiency [RCV001321561]|not provided [RCV001701795] Chr11:70206159 [GRCh38]
Chr11:70052265 [GRCh37]
Chr11:11q13.3		 likely pathogenic|uncertain significance
NM_003824.4(FADD):c.419G>A (p.Arg140His) single nucleotide variant FADD-related immunodeficiency [RCV001327787] Chr11:70206265 [GRCh38]
Chr11:70052371 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.241G>T (p.Asp81Tyr) single nucleotide variant FADD-related immunodeficiency [RCV001358902] Chr11:70203700 [GRCh38]
Chr11:70049806 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.89G>C (p.Arg30Pro) single nucleotide variant FADD-related immunodeficiency [RCV001373209] Chr11:70203548 [GRCh38]
Chr11:70049654 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.551G>A (p.Arg184His) single nucleotide variant FADD-related immunodeficiency [RCV001343281] Chr11:70206397 [GRCh38]
Chr11:70052503 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.466G>A (p.Ala156Thr) single nucleotide variant FADD-related immunodeficiency [RCV001305512] Chr11:70206312 [GRCh38]
Chr11:70052418 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.8C>G (p.Pro3Arg) single nucleotide variant FADD-related immunodeficiency [RCV001352583] Chr11:70203467 [GRCh38]
Chr11:70049573 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.6C>T (p.Asp2=) single nucleotide variant FADD-related immunodeficiency [RCV001479154] Chr11:70203465 [GRCh38]
Chr11:70049571 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.591A>G (p.Ser197=) single nucleotide variant FADD-related immunodeficiency [RCV001487396] Chr11:70206437 [GRCh38]
Chr11:70052543 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.198G>C (p.Leu66=) single nucleotide variant FADD-related immunodeficiency [RCV001455154] Chr11:70203657 [GRCh38]
Chr11:70049763 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.81C>T (p.Cys27=) single nucleotide variant FADD-related immunodeficiency [RCV001478780] Chr11:70203540 [GRCh38]
Chr11:70049646 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.211C>A (p.Arg71=) single nucleotide variant FADD-related immunodeficiency [RCV001488505] Chr11:70203670 [GRCh38]
Chr11:70049776 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.-43A>G single nucleotide variant not provided [RCV001527991]|not specified [RCV003399327] Chr11:70203417 [GRCh38]
Chr11:70049523 [GRCh37]
Chr11:11q13.3		 benign
NM_003824.4(FADD):c.378C>T (p.Ile126=) single nucleotide variant FADD-related immunodeficiency [RCV001442386] Chr11:70206224 [GRCh38]
Chr11:70052330 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.465C>T (p.Asn155=) single nucleotide variant FADD-related condition [RCV003980423]|FADD-related immunodeficiency [RCV001488875] Chr11:70206311 [GRCh38]
Chr11:70052417 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.287-162_287-161insA insertion not provided [RCV001714925] Chr11:70205971..70205972 [GRCh38]
Chr11:70052077..70052078 [GRCh37]
Chr11:11q13.3		 benign
NM_003824.4(FADD):c.620C>T (p.Ala207Val) single nucleotide variant FADD-related immunodeficiency [RCV001461672]|not specified [RCV003399244] Chr11:70206466 [GRCh38]
Chr11:70052572 [GRCh37]
Chr11:11q13.3		 likely benign|uncertain significance
NM_003824.4(FADD):c.78A>G (p.Leu26=) single nucleotide variant FADD-related immunodeficiency [RCV001434963] Chr11:70203537 [GRCh38]
Chr11:70049643 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.447G>A (p.Lys149=) single nucleotide variant FADD-related immunodeficiency [RCV001468039] Chr11:70206293 [GRCh38]
Chr11:70052399 [GRCh37]
Chr11:11q13.3		 likely benign
GRCh37/hg19 11q13.3-13.4(chr11:69214835-70821137)x1 copy number loss not provided [RCV001834393] Chr11:69214835..70821137 [GRCh37]
Chr11:11q13.3-13.4		 pathogenic
NM_003824.4(FADD):c.52_58del (p.Ser17_Ser18insTer) deletion FADD-related immunodeficiency [RCV001795381] Chr11:70203506..70203512 [GRCh38]
Chr11:70049612..70049618 [GRCh37]
Chr11:11q13.3		 pathogenic
NM_003824.4(FADD):c.385A>G (p.Ile129Val) single nucleotide variant FADD-related immunodeficiency [RCV002045188] Chr11:70206231 [GRCh38]
Chr11:70052337 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.617A>C (p.Glu206Ala) single nucleotide variant FADD-related immunodeficiency [RCV002022729] Chr11:70206463 [GRCh38]
Chr11:70052569 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.547G>T (p.Ala183Ser) single nucleotide variant FADD-related immunodeficiency [RCV001913131] Chr11:70206393 [GRCh38]
Chr11:70052499 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.623C>T (p.Ser208Phe) single nucleotide variant FADD-related immunodeficiency [RCV002003031] Chr11:70206469 [GRCh38]
Chr11:70052575 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.330A>C (p.Lys110Asn) single nucleotide variant FADD-related immunodeficiency [RCV001886190] Chr11:70206176 [GRCh38]
Chr11:70052282 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.52A>G (p.Ser18Gly) single nucleotide variant FADD-related immunodeficiency [RCV001865132] Chr11:70203511 [GRCh38]
Chr11:70049617 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.604G>A (p.Ala202Thr) single nucleotide variant FADD-related immunodeficiency [RCV001880909] Chr11:70206450 [GRCh38]
Chr11:70052556 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.584C>T (p.Pro195Leu) single nucleotide variant FADD-related immunodeficiency [RCV001899745] Chr11:70206430 [GRCh38]
Chr11:70052536 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.310A>G (p.Ile104Val) single nucleotide variant FADD-related immunodeficiency [RCV002012815] Chr11:70206156 [GRCh38]
Chr11:70052262 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.287-11T>G single nucleotide variant FADD-related immunodeficiency [RCV002146929] Chr11:70206122 [GRCh38]
Chr11:70052228 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.258G>A (p.Ala86=) single nucleotide variant FADD-related immunodeficiency [RCV002091047] Chr11:70203717 [GRCh38]
Chr11:70049823 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.187C>T (p.Leu63=) single nucleotide variant FADD-related immunodeficiency [RCV002100110] Chr11:70203646 [GRCh38]
Chr11:70049752 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.346G>C (p.Ala116Pro) single nucleotide variant not provided [RCV002247175] Chr11:70206192 [GRCh38]
Chr11:70052298 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.606A>G (p.Ala202=) single nucleotide variant FADD-related immunodeficiency [RCV002218205] Chr11:70206452 [GRCh38]
Chr11:70052558 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.234C>G (p.Arg78=) single nucleotide variant FADD-related immunodeficiency [RCV002219902] Chr11:70203693 [GRCh38]
Chr11:70049799 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.286+20G>A single nucleotide variant FADD-related immunodeficiency [RCV002184158] Chr11:70203765 [GRCh38]
Chr11:70049871 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.21G>C (p.Leu7=) single nucleotide variant FADD-related immunodeficiency [RCV002175777] Chr11:70203480 [GRCh38]
Chr11:70049586 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.459G>A (p.Lys153=) single nucleotide variant FADD-related immunodeficiency [RCV002118582] Chr11:70206305 [GRCh38]
Chr11:70052411 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.72G>A (p.Lys24=) single nucleotide variant FADD-related immunodeficiency [RCV002221008] Chr11:70203531 [GRCh38]
Chr11:70049637 [GRCh37]
Chr11:11q13.3		 likely benign
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
GRCh37/hg19 11q13.3(chr11:69559588-70347818)x3 copy number gain not provided [RCV002474882] Chr11:69559588..70347818 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.287-18C>T single nucleotide variant FADD-related immunodeficiency [RCV002616985] Chr11:70206115 [GRCh38]
Chr11:70052221 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.283G>A (p.Glu95Lys) single nucleotide variant FADD-related immunodeficiency [RCV002613912] Chr11:70203742 [GRCh38]
Chr11:70049848 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.343C>T (p.Leu115=) single nucleotide variant FADD-related immunodeficiency [RCV002681557] Chr11:70206189 [GRCh38]
Chr11:70052295 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.175C>T (p.His59Tyr) single nucleotide variant FADD-related immunodeficiency [RCV002967432] Chr11:70203634 [GRCh38]
Chr11:70049740 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.334T>G (p.Trp112Gly) single nucleotide variant FADD-related immunodeficiency [RCV003016626] Chr11:70206180 [GRCh38]
Chr11:70052286 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.513C>A (p.Asn171Lys) single nucleotide variant FADD-related immunodeficiency [RCV002903550] Chr11:70206359 [GRCh38]
Chr11:70052465 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.603C>T (p.Asp201=) single nucleotide variant FADD-related immunodeficiency [RCV003079964] Chr11:70206449 [GRCh38]
Chr11:70052555 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.416A>G (p.Glu139Gly) single nucleotide variant FADD-related immunodeficiency [RCV002910182] Chr11:70206262 [GRCh38]
Chr11:70052368 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.349C>T (p.Arg117Cys) single nucleotide variant FADD-related immunodeficiency [RCV002620360] Chr11:70206195 [GRCh38]
Chr11:70052301 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.265G>T (p.Gly89Trp) single nucleotide variant Inborn genetic diseases [RCV002821085] Chr11:70203724 [GRCh38]
Chr11:70049830 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.286+9G>C single nucleotide variant FADD-related immunodeficiency [RCV002637443] Chr11:70203754 [GRCh38]
Chr11:70049860 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.316G>A (p.Asp106Asn) single nucleotide variant FADD-related immunodeficiency [RCV002574176] Chr11:70206162 [GRCh38]
Chr11:70052268 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.225G>A (p.Leu75=) single nucleotide variant FADD-related immunodeficiency [RCV002933332] Chr11:70203684 [GRCh38]
Chr11:70049790 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.333T>C (p.Asp111=) single nucleotide variant FADD-related immunodeficiency [RCV002791046] Chr11:70206179 [GRCh38]
Chr11:70052285 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.285A>C (p.Glu95Asp) single nucleotide variant Inborn genetic diseases [RCV002697458] Chr11:70203744 [GRCh38]
Chr11:70049850 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.139T>A (p.Ser47Thr) single nucleotide variant FADD-related immunodeficiency [RCV002711928] Chr11:70203598 [GRCh38]
Chr11:70049704 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.87G>A (p.Gly29=) single nucleotide variant FADD-related immunodeficiency [RCV002720325] Chr11:70203546 [GRCh38]
Chr11:70049652 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.264C>A (p.Ala88=) single nucleotide variant FADD-related immunodeficiency [RCV002647774] Chr11:70203723 [GRCh38]
Chr11:70049829 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.192C>T (p.Arg64=) single nucleotide variant FADD-related immunodeficiency [RCV003091877] Chr11:70203651 [GRCh38]
Chr11:70049757 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.382A>G (p.Ser128Gly) single nucleotide variant FADD-related immunodeficiency [RCV002604495] Chr11:70206228 [GRCh38]
Chr11:70052334 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.359A>G (p.Lys120Arg) single nucleotide variant FADD-related immunodeficiency [RCV002814574] Chr11:70206205 [GRCh38]
Chr11:70052311 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.223C>T (p.Leu75=) single nucleotide variant FADD-related immunodeficiency [RCV002609182] Chr11:70203682 [GRCh38]
Chr11:70049788 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.578T>C (p.Met193Thr) single nucleotide variant FADD-related immunodeficiency [RCV002608300] Chr11:70206424 [GRCh38]
Chr11:70052530 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.541C>G (p.Gln181Glu) single nucleotide variant FADD-related immunodeficiency [RCV002942243] Chr11:70206387 [GRCh38]
Chr11:70052493 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.621G>A (p.Ala207=) single nucleotide variant FADD-related immunodeficiency [RCV002613268] Chr11:70206467 [GRCh38]
Chr11:70052573 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.109G>A (p.Glu37Lys) single nucleotide variant FADD-related immunodeficiency [RCV002658227] Chr11:70203568 [GRCh38]
Chr11:70049674 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.219C>G (p.His73Gln) single nucleotide variant Inborn genetic diseases [RCV003345921] Chr11:70203678 [GRCh38]
Chr11:70049784 [GRCh37]
Chr11:11q13.3		 uncertain significance
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 copy number gain not provided [RCV003484842] Chr11:59923608..76272324 [GRCh37]
Chr11:11q12.2-13.5		 pathogenic
NM_003824.4(FADD):c.30G>T (p.Ser10=) single nucleotide variant FADD-related immunodeficiency [RCV003527373] Chr11:70203489 [GRCh38]
Chr11:70049595 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.206C>T (p.Ser69Phe) single nucleotide variant FADD-related immunodeficiency [RCV003525466] Chr11:70203665 [GRCh38]
Chr11:70049771 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.123C>T (p.Ser41=) single nucleotide variant FADD-related immunodeficiency [RCV003879700] Chr11:70203582 [GRCh38]
Chr11:70049688 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.9G>A (p.Pro3=) single nucleotide variant FADD-related immunodeficiency [RCV003526534] Chr11:70203468 [GRCh38]
Chr11:70049574 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.243C>T (p.Asp81=) single nucleotide variant FADD-related immunodeficiency [RCV003851745] Chr11:70203702 [GRCh38]
Chr11:70049808 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.210G>A (p.Leu70=) single nucleotide variant FADD-related immunodeficiency [RCV003850949] Chr11:70203669 [GRCh38]
Chr11:70049775 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.286+18_286+24del deletion FADD-related immunodeficiency [RCV003833028] Chr11:70203760..70203766 [GRCh38]
Chr11:70049866..70049872 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.76C>T (p.Leu26=) single nucleotide variant FADD-related immunodeficiency [RCV003638995] Chr11:70203535 [GRCh38]
Chr11:70049641 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.186C>T (p.Leu62=) single nucleotide variant FADD-related immunodeficiency [RCV003638396] Chr11:70203645 [GRCh38]
Chr11:70049751 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.384C>T (p.Ser128=) single nucleotide variant FADD-related immunodeficiency [RCV003638545] Chr11:70206230 [GRCh38]
Chr11:70052336 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.286+12G>C single nucleotide variant FADD-related immunodeficiency [RCV003639351] Chr11:70203757 [GRCh38]
Chr11:70049863 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.132C>T (p.Asp44=) single nucleotide variant FADD-related immunodeficiency [RCV003638492] Chr11:70203591 [GRCh38]
Chr11:70049697 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.508A>T (p.Met170Leu) single nucleotide variant FADD-related immunodeficiency [RCV003639886] Chr11:70206354 [GRCh38]
Chr11:70052460 [GRCh37]
Chr11:11q13.3		 uncertain significance
NM_003824.4(FADD):c.138C>T (p.Phe46=) single nucleotide variant FADD-related immunodeficiency [RCV003639784] Chr11:70203597 [GRCh38]
Chr11:70049703 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.286+15G>T single nucleotide variant FADD-related immunodeficiency [RCV003872175] Chr11:70203760 [GRCh38]
Chr11:70049866 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.582C>T (p.Ser194=) single nucleotide variant FADD-related immunodeficiency [RCV003639441] Chr11:70206428 [GRCh38]
Chr11:70052534 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.286+8C>T single nucleotide variant FADD-related immunodeficiency [RCV003639299] Chr11:70203753 [GRCh38]
Chr11:70049859 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.48G>A (p.Ser16=) single nucleotide variant FADD-related immunodeficiency [RCV003844896] Chr11:70203507 [GRCh38]
Chr11:70049613 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.558C>T (p.Leu186=) single nucleotide variant FADD-related immunodeficiency [RCV003639616] Chr11:70206404 [GRCh38]
Chr11:70052510 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.156G>A (p.Gln52=) single nucleotide variant FADD-related immunodeficiency [RCV003638269] Chr11:70203615 [GRCh38]
Chr11:70049721 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.549C>T (p.Ala183=) single nucleotide variant FADD-related immunodeficiency [RCV003640210] Chr11:70206395 [GRCh38]
Chr11:70052501 [GRCh37]
Chr11:11q13.3		 likely benign
NM_003824.4(FADD):c.66G>A (p.Glu22=) single nucleotide variant FADD-related immunodeficiency [RCV003638378] Chr11:70203525 [GRCh38]
Chr11:70049631 [GRCh37]
Chr11:11q13.3		 likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR146Ahsa-miR-146a-3pMirecordsexternal_infoNANA19965651
MIR146Ahsa-miR-146a-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19965651
MIR27Ahsa-miR-27a-3pMirecordsexternal_infoNANA19513126
MIR155hsa-miR-155-3pMirecordsexternal_info{unchanged}NA19650740

Predicted Target Of
Summary Value
Count of predictions:440
Count of miRNA genes:372
Interacting mature miRNAs:399
Transcripts:ENST00000301838
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1070 921 538 159 1159 102 1493 457 361 232 610 777 71 435 685 3
Low 1368 2046 1184 461 786 360 2861 1720 3352 186 848 833 102 1 769 2102 2 1
Below cutoff 1 23 4 3 3 3 1 19 21 1 1 2 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_027966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI886015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL575732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY423721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ449938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U24231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U62022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U74301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X84709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000301838   ⟹   ENSP00000301838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1170,203,296 - 70,207,390 (+)Ensembl
RefSeq Acc Id: NM_003824   ⟹   NP_003815
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,203,296 - 70,207,390 (+)NCBI
GRCh371170,049,269 - 70,053,508 (+)ENTREZGENE
Build 361169,726,917 - 69,731,144 (+)NCBI Archive
HuRef1166,308,990 - 66,313,229 (+)ENTREZGENE
CHM1_11169,932,172 - 69,936,414 (+)NCBI
T2T-CHM13v2.01170,218,250 - 70,222,344 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_003815   ⟸   NM_003824
- UniProtKB: Q14866 (UniProtKB/Swiss-Prot),   Q6IBR4 (UniProtKB/Swiss-Prot),   Q13158 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000301838   ⟸   ENST00000301838
Protein Domains
Death   DED

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13158-F1-model_v2 AlphaFold Q13158 1-208 view protein structure

Promoters
RGD ID:6788907
Promoter ID:HG_KWN:13549
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_003824
Position:
Human AssemblyChrPosition (strand)Source
Build 361169,726,891 - 69,727,391 (+)MPROMDB
RGD ID:6853530
Promoter ID:EP74592
Type:multiple initiation site
Name:HS_FADD
Description:Fas (TNFRSF6)-associated via death domain.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361169,727,118 - 69,727,178EPD
RGD ID:7221375
Promoter ID:EPDNEW_H16433
Type:initiation region
Name:FADD_1
Description:Fas associated via death domain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381170,203,315 - 70,203,375EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3573 AgrOrtholog
COSMIC FADD COSMIC
Ensembl Genes ENSG00000168040 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000301838 ENTREZGENE
  ENST00000301838.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.533.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000168040 GTEx
HGNC ID HGNC:3573 ENTREZGENE
Human Proteome Map FADD Human Proteome Map
InterPro DEATH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Death_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DED_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FADD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FADD_vert UniProtKB/Swiss-Prot
KEGG Report hsa:8772 UniProtKB/Swiss-Prot
NCBI Gene 8772 ENTREZGENE
OMIM 602457 OMIM
PANTHER CASP8 AND FADD LIKE APOPTOSIS REGULATOR UniProtKB/TrEMBL
  DED DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
  FAS-ASSOCIATED DEATH DOMAIN PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15077 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Death UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27972 PharmGKB
PIRSF FADD UniProtKB/Swiss-Prot
PROSITE DEATH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DEATH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47986 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt FADD_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q14866 ENTREZGENE
  Q6IBR4 ENTREZGENE
  Q6LCB0_HUMAN UniProtKB/TrEMBL
  Q6LCG1_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q14866 UniProtKB/Swiss-Prot
  Q6IBR4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 FADD  Fas associated via death domain  FADD  Fas (TNFRSF6)-associated via death domain  Symbol and/or name change 5135510 APPROVED