CASP8 (caspase 8) - Rat Genome Database

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Gene: CASP8 (caspase 8) Homo sapiens
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Symbol: CASP8
Name: caspase 8
RGD ID: 730846
HGNC Page HGNC:1509
Description: Enables several functions, including cysteine-type endopeptidase activity involved in apoptotic signaling pathway; death effector domain binding activity; and scaffold protein binding activity. Involved in several processes, including cellular response to mechanical stimulus; positive regulation of macromolecule metabolic process; and regulation of canonical NF-kappaB signal transduction. Located in cytosol; lamellipodium; and nucleoplasm. Part of CD95 death-inducing signaling complex and ripoptosome. Is active in cytoplasm. Implicated in several diseases, including autoimmune lymphoproliferative syndrome type 2B; breast cancer; endocrine gland cancer (multiple); esophagus adenocarcinoma; and lung cancer. Biomarker of Alzheimer's disease; Huntington's disease; autoimmune disease; and esophagus squamous cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ALPS2B; apoptotic cysteine protease; apoptotic protease Mch-5; CAP4; Casp-8; caspase 8, apoptosis-related cysteine peptidase; caspase 8, apoptosis-related cysteine protease; caspase-8; FADD-homologous ICE/CED-3-like protease; FADD-like ICE; FLICE; FLJ17672; ICE-like apoptotic protease 5; MACH; MACH-alpha-1/2/3 protein; MACH-beta-1/2/3/4 protein; MCH5; MGC78473; MORT1-associated ced-3 homolog
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
GRCh382201,233,463 - 201,287,711 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2201,233,443 - 201,361,836 (+)EnsemblGRCh38hg38GRCh38
GRCh372202,098,166 - 202,152,434 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362201,806,411 - 201,860,679 (+)NCBINCBI36Build 36hg18NCBI36
Build 342201,923,718 - 201,972,144NCBI
Celera2195,852,777 - 195,904,249 (+)NCBICelera
Cytogenetic Map2q33.1NCBI
HuRef2193,949,530 - 194,000,819 (+)NCBIHuRef
CHM1_12202,104,145 - 202,158,454 (+)NCBICHM1_1
T2T-CHM13v2.02201,716,914 - 201,768,369 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Acute Liver Failure  (ISO)
Acute Lung Injury  (ISO)
acute lymphoblastic leukemia  (EXP)
adenocarcinoma  (EXP)
Alcohol-Related Disorders  (ISO)
allergic contact dermatitis  (EXP)
Alzheimer's disease  (IEP,ISO)
atopic dermatitis  (ISS)
autoimmune disease  (IEP)
autoimmune lymphoproliferative syndrome  (EXP)
autoimmune lymphoproliferative syndrome type 2B  (IAGP,ISS)
Autoimmune Lymphoproliferative Syndrome, Type V  (IAGP)
bacterial infectious disease  (ISO)
Brain Contusion  (ISO)
Brain Hypoxia-Ischemia  (ISO)
Brain Injuries  (ISO)
breast cancer  (IAGP)
Breast Cancer, Familial  (IAGP)
Breast Neoplasms  (EXP)
bronchopulmonary dysplasia  (ISO)
Cerebral Hemorrhage  (EXP,ISO)
Chemical and Drug Induced Liver Injury  (ISO)
chronic obstructive pulmonary disease  (ISO)
Colorectal Neoplasms  (EXP)
common variable immunodeficiency 1  (IAGP)
contact dermatitis  (EXP)
Diabetic Cardiomyopathies  (ISO)
Diabetic Nephropathies  (ISO)
dilated cardiomyopathy  (ISO)
Edema  (EXP)
Esophageal Neoplasms  (EXP)
esophagus adenocarcinoma  (IAGP)
esophagus squamous cell carcinoma  (IEP)
Experimental Autoimmune Encephalomyelitis  (ISO)
Experimental Autoimmune Myocarditis  (ISO)
Experimental Diabetes Mellitus  (ISO)
Experimental Mammary Neoplasms  (ISO)
Experimental Radiation Injuries  (ISO)
Familial Prostate Cancer  (EXP)
genetic disease  (IAGP)
head and neck squamous cell carcinoma  (EXP)
heart disease  (ISO)
Hemorrhagic Shock  (ISO)
hepatocellular carcinoma  (EXP,IAGP,ISO)
Huntington's disease  (IEP)
hyperglycemia  (ISO)
hypertension  (ISO)
Insulin Resistance  (ISO)
kidney disease  (ISO)
liver cirrhosis  (ISO)
Liver Reperfusion Injury  (ISO)
lung cancer  (IAGP)
Lung Neoplasms  (EXP)
lung non-small cell carcinoma  (EXP)
melanoma  (EXP)
mitochondrial metabolism disease  (EXP)
Myocardial Reperfusion Injury  (EXP,ISO)
nephritis  (ISO)
Neurodevelopmental Disorders  (IAGP)
Osteoarthritis, Experimental  (ISO)
pancreatic cancer  (IAGP)
papillomavirus infectious disease  (EXP)
pre-malignant neoplasm  (ISO)
primary immunodeficiency disease  (IAGP)
Primary Pulmonary Hypertension, 1  (IAGP)
Pulmonary Arterial Hypertension  (IAGP)
Reperfusion Injury  (EXP)
retinal detachment  (ISO)
sciatic neuropathy  (ISO)
Sepsis  (ISO)
Skin Neoplasms  (EXP)
status epilepticus  (EXP,ISO)
Stomach Neoplasms  (EXP)
transient cerebral ischemia  (ISO)
type 1 diabetes mellitus  (ISO)
type 2 diabetes mellitus  (EXP,ISO)
Uterine Cervical Neoplasms  (EXP)
Viral Myocarditis  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-alpha-viniferin  (EXP)
(+)-catechin  (EXP)
(+)-dexrazoxane  (ISO)
(+)-Tetrandrine  (EXP)
(-)-anisomycin  (EXP)
(-)-epigallocatechin 3-gallate  (EXP,ISO)
(-)-gambogic acid  (EXP)
(1->4)-beta-D-glucan  (ISO)
(20S)-ginsenoside Rg3  (EXP)
(R)-carnitine  (EXP)
(R)-lipoic acid  (EXP,ISO)
(R)-noradrenaline  (ISO)
(R,R,R)-alpha-tocopherol  (EXP)
(S)-colchicine  (ISO)
(S)-nicotine  (ISO)
(Z)-3-butylidenephthalide  (EXP,ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-Dinitropyrene  (ISO)
1,4-benzoquinone  (EXP)
1,4-dithiothreitol  (ISO)
1,4-naphthoquinone  (EXP)
1-nitropyrene  (ISO)
15-deoxy-Delta(12,14)-prostaglandin J2  (EXP)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-D  (ISO)
2,4-dinitrotoluene  (ISO)
2,5-hexanedione  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (EXP)
2-(4-iodo-2,5-dimethoxyphenyl)-1-methylethylamine  (ISO)
2-amino-2-deoxy-D-galactopyranose  (ISO)
2-Hydroxy-6-(8,11,14-pentadecatrienyl)benzoic acid  (EXP)
2-methoxy-17beta-estradiol  (EXP)
25-hydroxycholesterol  (ISO)
28-deoxonimbolide  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetraiodothyroacetic acid  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide  (EXP)
3-chloropropane-1,2-diol  (EXP,ISO)
3-hydroxybutyric acid  (ISO)
3-methyladenine  (EXP)
3-Nitrofluoranthene  (ISO)
3-nitropropanoic acid  (ISO)
3-phenylprop-2-enal  (EXP)
4'-epidoxorubicin  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4,5,6,7-TETRABROMOBENZOTRIAZOLE  (EXP)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-hydroxynon-2-enal  (EXP)
4-hydroxyphenyl retinamide  (EXP)
4-nitro-m-cresol  (EXP,ISO)
4-nonylphenol  (ISO)
4-phenylbutyric acid  (EXP)
5-aminolevulinic acid  (EXP)
5-aza-2'-deoxycytidine  (EXP,ISO)
5-azacytidine  (EXP,ISO)
5-fluorouracil  (EXP,ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (EXP)
6-(cyclohexylmethoxy)-5-nitrosopyrimidine-2,4-diamine  (EXP)
6-bromoindirubin-3'-oxime  (EXP)
6-formylpterin  (EXP)
7-ketocholesterol  (ISO)
9'-cis-neoxanthin  (EXP)
9-cis-retinoic acid  (EXP)
9-hydroxycanthin-6-one  (EXP)
9-Methoxycamptothecin  (EXP)
ABT-737  (EXP)
acetamide  (ISO)
acetylleucyl-leucyl-norleucinal  (ISO)
acetylsalicylic acid  (EXP)
aclacinomycin A  (EXP)
acrolein  (EXP,ISO)
acrylamide  (ISO)
actinomycin D  (EXP)
adenosine  (EXP,ISO)
aflatoxin B1  (EXP,ISO)
agomelatine  (ISO)
Ala-Gln  (EXP)
alantolactone  (EXP)
alborixin  (EXP)
aldehydo-D-glucose  (EXP,ISO)
alginic acid  (ISO)
all-trans-acitretin  (EXP)
all-trans-neoxanthin  (EXP)
all-trans-retinoic acid  (EXP)
Aloe emodin  (EXP)
alpha-mangostin  (EXP)
alpha-naphthoflavone  (ISO)
alvocidib  (EXP)
amiloride  (EXP)
amiodarone  (EXP,ISO)
amlodipine  (EXP)
ammonium chloride  (ISO)
amphibole asbestos  (EXP)
andrographolide  (EXP,ISO)
anthocyanin  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
antimycin A  (EXP)
antirheumatic drug  (EXP)
apigenin  (EXP,ISO)
arachidonic acid  (EXP)
arecoline  (ISO)
arjunolic acid  (ISO)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP,ISO)
asarone  (EXP)
atorvastatin calcium  (EXP,ISO)
atrazine  (ISO)
auranofin  (EXP)
Auriculasin  (EXP)
azadirachtin A  (EXP)
azadiradione  (EXP)
bafilomycin A1  (ISO)
baicalein  (ISO)
BAPTA  (ISO)
Bardoxolone methyl  (EXP)
bathocuproine disulfonic acid  (EXP)
beauvericin  (EXP)
belinostat  (EXP)
bellidifolin  (EXP)
benzalkonium chloride  (EXP)
benzene  (ISO)
benzene-1,2,4-triol  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP,ISO)
benzophenanthridine  (EXP)
berberine  (EXP)
beta-hexachlorocyclohexane  (ISO)
Beta-Solamarine  (EXP)
betulin  (EXP)
betulinic acid  (EXP)
bifenthrin  (ISO)
bis(2-chloroethyl) sulfide  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol A glycidylmethacrylate  (ISO)
bisphenol F  (EXP,ISO)
bleomycin A2  (EXP)
borrelidin  (EXP)
bortezomib  (EXP)
Brevetoxin B  (EXP)
bromoacetate  (EXP)
Brusatol  (EXP)
bupropion  (EXP)
busulfan  (EXP)
butein  (EXP)
Butylbenzyl phthalate  (ISO)
Butylparaben  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
cadmium sulfide  (EXP)
caffeine  (EXP)
Calcimycin  (EXP,ISO)
calcitriol  (EXP,ISO)
Calpeptin  (ISO)
camptothecin  (EXP,ISO)
cannabidiol  (EXP,ISO)
cannabigerol  (ISO)
cantharidic acid  (EXP)
cantharidin  (EXP)
capsaicin  (EXP)
capsazepine  (ISO)
carbamazepine  (EXP)
carbon atom  (EXP)
carbon monoxide  (EXP,ISO)
carbon nanotube  (EXP,ISO)
carbonyl cyanide p-trifluoromethoxyphenylhydrazone  (EXP)
carnosic acid  (EXP,ISO)
carnosine  (ISO)
casticin  (EXP)
catechol  (EXP)
celastrol  (EXP)
celecoxib  (EXP)
cerivastatin  (EXP)
ceruletide  (ISO)
chalcone  (EXP)
chalcones  (EXP)
chlorambucil  (EXP)
chloroacetaldehyde  (EXP)
chlorogenic acid  (ISO)
chloroquine  (EXP,ISO)
chlorothalonil  (EXP)
chlorpyrifos  (EXP,ISO)
cholesterol  (ISO)
choline  (ISO)
chromium atom  (ISO)
chromium(3+) trichloride  (EXP)
chromium(6+)  (EXP)
chromone  (EXP)
chrysazin  (EXP)
chrysin  (EXP)
ciglitazone  (EXP)
cilostazol  (ISO)
cimetidine  (EXP)
Cinobufotalin  (EXP)
ciprofloxacin  (EXP)
cisplatin  (EXP,ISO)
cladribine  (EXP)
clavulone II  (EXP)
clofibrate  (ISO)
clomipramine  (ISO)
clonidine  (EXP)
clonidine (amino form)  (EXP)
clonidine (imino form)  (EXP)
clotrimazole  (ISO)
cobalt dichloride  (EXP,ISO)
cocaine  (ISO)
coenzyme Q10  (ISO)
colistin  (ISO)
conjugated linoleic acid  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (ISO)
copper(II) sulfate  (EXP,ISO)
cordycepin  (EXP)
corticosterone  (ISO)
coumarin  (EXP)
crizotinib  (EXP)
crocidolite asbestos  (EXP)
crocin-1  (EXP)
cucurbitacin I  (EXP)
curcumin  (EXP,ISO)
cyanocob(III)alamin  (ISO)
cycloheximide  (EXP)
cyclophosphamide  (EXP)
cyclosporin A  (EXP,ISO)
cylindrospermopsin  (EXP)
cytarabine  (EXP)
D-glucitol  (ISO)
D-gluconic acid  (EXP)
D-glucose  (EXP,ISO)
dacarbazine  (EXP)
daunorubicin  (EXP)
DDE  (EXP,ISO)
deguelin  (EXP)
delphinidin  (EXP)
demethoxycurcumin  (EXP)
demethoxyfumitremorgin C  (EXP)
deoxynivalenol  (EXP,ISO)
desferrioxamine B  (EXP)
Destruxin B  (EXP)
dexamethasone  (EXP,ISO)
dexmedetomidine  (EXP)
dextran sulfate  (ISO)
Di-n-hexyl phthalate  (EXP)
Di-n-octyl phthalate  (ISO)
diallyl disulfide  (EXP)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP,ISO)
diazinon  (EXP,ISO)
dibenziodolium  (EXP,ISO)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
diclofenac  (EXP,ISO)
dieckol  (EXP)
dieldrin  (ISO)
diepoxybutane  (EXP)
diethyl phthalate  (ISO)
diethyldithiocarbamic acid  (EXP)
diethylstilbestrol  (ISO)
digitoxin  (EXP)
Dihydrotanshinone I  (ISO)
diisobutyl phthalate  (ISO)
Diisodecyl phthalate  (ISO)
diisononyl phthalate  (ISO)
Dimethyl phthalate  (ISO)
dimethylarsinic acid  (ISO)
dioscin  (EXP)
dioxygen  (EXP)
dipyridamole  (EXP)
diquat  (ISO)
disodium selenite  (EXP,ISO)
docebenone  (ISO)
donepezil hydrochloride  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
Echimidine  (EXP)
Echinocystic acid  (EXP)
eckol  (EXP)
edaravone  (ISO)
elemental carbon  (EXP)
elemental selenium  (EXP)
ellipticine  (EXP)
emodin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
enzalutamide  (EXP)
epichlorohydrin  (EXP)
epoxiconazole  (ISO)
esculetin  (EXP)
etacrynic acid  (EXP)
ethanol  (EXP,ISO)
ethylene glycol bis(2-aminoethyl)tetraacetic acid  (ISO)
etoposide  (EXP)
fangchinoline  (EXP)
fenbendazole  (EXP)
fingolimod hydrochloride  (EXP)
fisetin  (EXP)
flavanone  (EXP)
flavones  (EXP)
flavonols  (EXP)
fluoxetine  (ISO)
fluticasone  (EXP)
fluvastatin  (EXP)
folic acid  (EXP,ISO)
formaldehyde  (ISO)
formononetin  (EXP)
fructose  (ISO)
furan  (ISO)
furosemide  (ISO)
Fusarenone X  (ISO)
gallic acid  (EXP)
gallium atom  (EXP)
gardenin B  (EXP)
gedunin  (EXP)
gefitinib  (EXP)
gemcitabine  (EXP)
genistein  (EXP)
gentamycin  (EXP,ISO)
Gentiopicrin  (ISO)
geraniol  (EXP,ISO)
gibberellin A3  (ISO)
gingerol  (EXP,ISO)
glabridin  (EXP)
glucose  (EXP,ISO)
glutaraldehyde  (EXP)
glutathione  (EXP,ISO)
glycochenodeoxycholic acid  (ISO)
glycyrrhizinic acid  (EXP,ISO)
glyphosate  (EXP)
gold atom  (EXP)
gold(0)  (EXP)
Grifolin  (EXP)
guggulsterone  (EXP)
helenalin  (EXP)
Heliotrine  (EXP)
hexachlorobenzene  (ISO)
homocysteine  (EXP)
Honokiol  (EXP)
hyaluronic acid  (EXP)
hydrogen peroxide  (EXP,ISO)
hydroquinone  (EXP,ISO)
hydroquinone O-beta-D-glucopyranoside  (EXP)
hydroxyurea  (ISO)
hyperforin  (EXP)
icariside II  (EXP)
idelalisib  (EXP)
Ilimaquinone  (EXP)
imipramine  (ISO)
indirubin-3'-monoxime  (EXP)
indometacin  (EXP,ISO)
ionomycin  (EXP)
irinotecan  (EXP)
iron dichloride  (EXP)
iron(III) nitrilotriacetate  (ISO)
isoflavones  (ISO)
isoflurane  (ISO)
isoliquiritigenin  (EXP)
isoprenaline  (ISO)
isotretinoin  (EXP,ISO)
ivermectin  (EXP)
juglone  (EXP)
kojic acid  (ISO)
L-1,4-dithiothreitol  (ISO)
L-ascorbic acid  (EXP,ISO)
L-methionine  (ISO)
lactacystin  (ISO)
lead diacetate  (ISO)
Licochalcone A  (EXP)
Licochalcone B  (EXP)
linalool  (EXP)
lipoic acid  (EXP,ISO)
lipopolysaccharide  (EXP,ISO)
Lipstatin  (EXP)
lithium atom  (EXP)
lithium hydride  (EXP)
lithocholic acid  (EXP)
lonafarnib  (EXP)
lonidamine  (EXP)
loratadine  (EXP)
losartan  (ISO)
lovastatin  (EXP,ISO)
lupeol  (EXP)
Lupiwighteone  (EXP)
luteolin  (EXP,ISO)
Luteolin 7-methyl ether  (ISO)
luteolin 7-O-beta-D-glucoside  (EXP)
LY294002  (EXP)
lycopene  (EXP,ISO)
Maduramicin  (ISO)
magnesium oxide  (EXP)
malathion  (ISO)
mancozeb  (EXP)
maneb  (EXP)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
mangiferin  (EXP)
masoprocol  (EXP,ISO)
MeIQx  (EXP)
melatonin  (EXP,ISO)
melittin  (EXP)
mercury dibromide  (EXP)
mercury dichloride  (ISO)
metformin  (EXP)
methotrexate  (EXP,ISO)
methoxsalen  (EXP)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
Methylone  (ISO)
methylphenidate  (ISO)
methylseleninic acid  (EXP)
metiram  (EXP)
mevalonic acid  (EXP)
microcystin-LR  (ISO)
mifepristone  (EXP)
minocycline  (ISO)
mitomycin C  (EXP)
mitoxantrone  (EXP,ISO)
ML-7  (EXP)
molybdenum atom  (EXP)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
monobenzyl phthalate  (EXP,ISO)
Monobutylphthalate  (EXP)
monoethyl phthalate  (EXP,ISO)
morphine  (EXP,ISO)
myricetin  (EXP)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (EXP)
N-(2-aminoethyl)-5-chloroisoquinoline-8-sulfonamide  (EXP)
N-(p-amylcinnamoyl)anthranilic acid  (EXP)
N-acetyl-L-cysteine  (EXP,ISO)
N-Acetyl-S-(1,2-dichlorovinyl)-cysteine  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP,ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nelfinavir  (EXP)
neohesperidin dihydrochalcone  (ISO)
nickel atom  (EXP,ISO)
nickel dichloride  (ISO)
niclosamide  (EXP)
nicotine  (ISO)
Niflumic acid  (EXP)
nifuroxazide  (ISO)
nimesulide  (EXP)
nimustine  (EXP)
nitric oxide  (EXP,ISO)
nitroprusside  (EXP,ISO)
nobiletin  (EXP)
nocodazole  (EXP)
Nodularin  (EXP,ISO)
NORCANTHARIDIN  (EXP)
norfloxacin  (EXP)
notoginsenoside R1  (ISO)
NS-398  (EXP)
Nutlin-3  (EXP)
nystatin  (EXP)
Obacunone  (EXP)
obeticholic acid  (EXP)
ochratoxin A  (EXP)
okadaic acid  (EXP)
olaparib  (EXP)
oleandrin  (EXP)
oleanolic acid  (EXP)
omeprazole  (EXP)
omethoate  (EXP)
orlistat  (EXP,ISO)
oroxylin A  (EXP)
osthole  (EXP)
ouabain  (EXP)
oxaliplatin  (EXP)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
p-cresol  (EXP)
p-menthan-3-ol  (EXP)
paclitaxel  (EXP,ISO)
Panduratin A  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraoxon  (ISO)
paraquat  (EXP,ISO)
paroxetine  (ISO)
Parthenin  (EXP)
parthenolide  (EXP)
patulin  (EXP)
Pendulone  (EXP)
pentachlorophenol  (ISO)
pentobarbital  (ISO)
Pentoxifylline  (EXP)
pepstatin A  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
perifosine  (EXP)
phenethyl caffeate  (ISO)
phenethyl isothiocyanate  (EXP)
phenobarbital  (ISO)
phenol  (EXP)
phenylephrine  (EXP)
phenylmercury acetate  (EXP)
PhIP  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
phosphatidylcholine  (EXP)
phylloquinone  (EXP)
pifithrin-?  (EXP,ISO)
Pinacidil  (ISO)
pinostrobin  (EXP)
pirinixic acid  (ISO)
platycodin D  (EXP)
plumbagin  (ISO)
poly(I:C)  (EXP)
pomalidomide  (EXP)
porphyrins  (EXP)
potassium chromate  (EXP)
Pranoprofen  (EXP)
prazosin  (EXP)
prodigiosin  (EXP)
progesterone  (EXP,ISO)
propylparaben  (EXP)
prostaglandin E2  (ISO)
protoporphyrin  (EXP)
psoralen  (EXP)
Psymberin  (EXP)
pterostilbene  (ISO)
puerarin  (EXP)
Punicalagin  (EXP)
Pyridostigmine bromide  (EXP)
pyridoxine  (EXP)
pyrimethamine  (EXP)
pyrogallol  (EXP)
pyrrolidine dithiocarbamate  (EXP)
quercetin  (EXP,ISO)
quercetin 3-O-beta-D-glucofuranoside  (EXP)
quercetin 3-O-beta-D-glucopyranoside  (EXP)
quercitrin  (EXP)
raloxifene  (EXP)
reactive oxygen species  (EXP,ISO)
regorafenib  (EXP)
reserpine  (ISO)
resveratrol  (EXP,ISO)
Rhein  (EXP)
ribavirin  (EXP)
riboflavin  (ISO)
rifampicin  (EXP)
Riluzole  (EXP)
Risedronate sodium  (ISO)
Ro 31-8220  (EXP)
rolipram  (ISO)
rosmarinic acid  (EXP)
rotenone  (ISO)
rubimaillin  (EXP)
rubitecan  (EXP)
rutin  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
S-allylcysteine  (EXP,ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (EXP)
S-nitrosoglutathione  (EXP)
safrole  (EXP)
Salinomycin  (EXP)
Salmeterol xinafoate  (EXP)
sanguinarine  (EXP)
sappanchalcone  (EXP)
SB 203580  (EXP)
SB 415286  (EXP)
SB 431542  (EXP)
Se-methyl-L-selenocysteine  (EXP)
Se-methylselenocysteine  (EXP)
selenium atom  (EXP)
selenocystine  (EXP)
selumetinib  (EXP)
senecionine  (EXP)
Senkirkine  (EXP)
Sesamol  (EXP)
sesquiterpene  (EXP)
silibinin  (EXP)
simvastatin  (EXP,ISO)
sirolimus  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium chloride  (EXP,ISO)
sodium dichromate  (EXP,ISO)
sodium disulfite  (EXP,ISO)
sodium fluoride  (EXP,ISO)
sodium propionate  (ISO)
Sodium salicylate  (ISO)
sorafenib  (EXP)
spermine  (ISO)
spironolactone  (ISO)
Spiruchostatin A  (EXP)
spiruchostatin B  (EXP)
staurosporine  (EXP)
streptozocin  (ISO)
styrene  (ISO)
Suillin  (EXP)
sulforaphane  (EXP)
sulfur dioxide  (EXP,ISO)
sulindac  (EXP)
sulindac sulfide  (EXP,ISO)
sulindac sulfone  (EXP)
swainsonine  (ISO)
syringic acid  (EXP)
T-2 toxin  (ISO)
tacedinaline  (EXP)
tacrolimus hydrate  (EXP,ISO)
tamoxifen  (EXP)
tanespimycin  (EXP)
tangeretin  (EXP)
Tanshinone I  (EXP)
taurocholic acid  (ISO)
tellurium atom  (ISO)
temozolomide  (EXP)
Terfenadine  (EXP,ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetramethylpyrazine  (ISO)
tetrathiomolybdate(2-)  (ISO)
tetrazolium violet  (ISO)
thalidomide  (EXP,ISO)
thapsigargin  (ISO)
Theaflavin 3,3'-digallate  (EXP)
thiabendazole  (ISO)
thiazoles  (EXP)
thioacetamide  (ISO)
thiosalicylic acid  (ISO)
thymol  (EXP,ISO)
thymol sulfate(1-)  (EXP,ISO)
thymoquinone  (ISO)
tioguanine  (EXP)
Tiron  (EXP)
titanium dioxide  (ISO)
Tomentosin  (EXP)
topotecan  (EXP)
tranilast  (ISO)
trans-chalcone  (EXP)
triamcinolone acetonide  (ISO)
tributylstannane  (ISO)
Tributyltin oxide  (EXP,ISO)
trichostatin A  (EXP)
trifluridine  (EXP)
Triptolide  (ISO)
troglitazone  (EXP,ISO)
trovafloxacin  (EXP)
ursodeoxycholic acid  (EXP,ISO)
ursolic acid  (EXP)
valproic acid  (EXP,ISO)
vanillic acid  (ISO)
vemurafenib  (EXP)
venom  (EXP)
verapamil  (EXP)
vincristine  (EXP)
vorinostat  (EXP)
WIN 55212-2  (EXP)
wogonin  (ISO)
wortmannin  (EXP,ISO)
xanthohumol  (EXP)
Y-27632  (EXP)
zearalenone  (EXP,ISO)
zebularine  (EXP)
zidovudine  (EXP)
zinc atom  (ISO)
zinc oxide  (EXP,ISO)
zinc protoporphyrin  (EXP)
zinc pyrithione  (EXP)
zinc sulfate  (EXP)
zinc(0)  (ISO)
ziram  (EXP)
zoledronic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
angiogenesis  (ISO,ISS)
apoptotic process  (IEA,IMP,ISO)
apoptotic signaling pathway  (IMP,ISO,TAS)
B cell activation  (TAS)
cellular response to mechanical stimulus  (IEP)
cellular response to organic cyclic compound  (IEA,ISO)
execution phase of apoptosis  (IMP,ISS)
extrinsic apoptotic signaling pathway  (IDA,ISO)
extrinsic apoptotic signaling pathway via death domain receptors  (IBA,ISO)
heart development  (ISO,ISS)
hepatocyte apoptotic process  (ISO)
macrophage differentiation  (IBA,ISO,TAS)
natural killer cell activation  (TAS)
necroptotic process  (ISO)
negative regulation of canonical NF-kappaB signal transduction  (IMP)
negative regulation of necroptotic process  (IDA,ISO,ISS)
neural tube formation  (ISO)
positive regulation of apoptotic process  (ISO,ISS)
positive regulation of canonical NF-kappaB signal transduction  (IEP,IMP)
positive regulation of cell migration  (IDA)
positive regulation of execution phase of apoptosis  (ISO)
positive regulation of extrinsic apoptotic signaling pathway  (ISO)
positive regulation of interleukin-1 beta production  (IMP)
positive regulation of macrophage differentiation  (IMP)
positive regulation of neuron apoptotic process  (IBA,IEA,ISO)
positive regulation of proteolysis  (IDA)
protein maturation  (IDA)
protein processing  (IEA,ISO)
proteolysis  (IDA,IEA)
proteolysis involved in protein catabolic process  (IMP,ISS)
pyroptosis  (ISS)
regulation of apoptotic process  (IEA)
regulation of apoptotic signaling pathway  (ISO)
regulation of cytokine production  (ISS)
regulation of innate immune response  (ISS)
regulation of thymocyte apoptotic process  (ISO)
regulation of tumor necrosis factor-mediated signaling pathway  (TAS)
response to auditory stimulus  (ISO)
response to cobalt ion  (IEA,ISO)
response to estradiol  (IEA,ISO)
response to ethanol  (IEA,ISO)
response to lipopolysaccharide  (IEA,ISO)
response to tumor necrosis factor  (IMP)
self proteolysis  (ISS)
syncytiotrophoblast cell differentiation involved in labyrinthine layer development  (TAS)
T cell activation  (TAS)
TRAIL-activated apoptotic signaling pathway  (IDA)

Cellular Component

References

References - curated
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19. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
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41. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
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44. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
45. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
46. Caspase gene expression in the brain as a function of the clinical progression of Alzheimer disease. Pompl PN, etal., Arch Neurol. 2003 Mar;60(3):369-76.
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48. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
49. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
50. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
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65. Neonatal bronchopulmonary dysplasia increases neuronal apoptosis in the hippocampus through the HIF-1alpha and p53 pathways. Yin R, etal., Respir Physiol Neurobiol. 2016 Jan;220:81-7. doi: 10.1016/j.resp.2015.09.011. Epub 2015 Sep 30.
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71. H3 Relaxin Protects Against Myocardial Injury in Experimental Diabetic Cardiomyopathy by Inhibiting Myocardial Apoptosis, Fibrosis and Inflammation. Zhang X, etal., Cell Physiol Biochem. 2017;43(4):1311-1324. doi: 10.1159/000481843. Epub 2017 Oct 9.
72. Caspase-8: a key role in the pathogenesis of diabetic embryopathy. Zhao Z, etal., Birth Defects Res B Dev Reprod Toxicol. 2009 Feb;86(1):72-7.
73. Sublytic C5b-9 Induces Glomerular Mesangial Cell Apoptosis through the Cascade Pathway of MEKK2-p38 MAPK-IRF-1-TRADD-Caspase 8 in Rat Thy-1 Nephritis. Zhu G, etal., J Immunol. 2017 Feb 1;198(3):1104-1118. doi: 10.4049/jimmunol.1600403. Epub 2016 Dec 30.
Additional References at PubMed
PMID:170210   PMID:3031469   PMID:7983002   PMID:8521391   PMID:8681376   PMID:8681377   PMID:8755496   PMID:8962078   PMID:9006941   PMID:9027312   PMID:9184224   PMID:9208847  
PMID:9219695   PMID:9228018   PMID:9271594   PMID:9289491   PMID:9325248   PMID:9326610   PMID:9334338   PMID:9337844   PMID:9343261   PMID:9380701   PMID:9535906   PMID:9539746  
PMID:9560245   PMID:9575181   PMID:9624166   PMID:9632733   PMID:9721089   PMID:9727491   PMID:9727492   PMID:9763668   PMID:9774341   PMID:9792675   PMID:9804161   PMID:9875225  
PMID:9878167   PMID:9931493   PMID:9971775   PMID:9990034   PMID:10069390   PMID:10235259   PMID:10329646   PMID:10432301   PMID:10435619   PMID:10438581   PMID:10442631   PMID:10469173  
PMID:10493725   PMID:10508784   PMID:10521396   PMID:10616217   PMID:10708425   PMID:10716992   PMID:10734073   PMID:10860845   PMID:10891503   PMID:10894160   PMID:10911620   PMID:10926122  
PMID:10964557   PMID:11000244   PMID:11002417   PMID:11016947   PMID:11048727   PMID:11085743   PMID:11098060   PMID:11101867   PMID:11101870   PMID:11102441   PMID:11161814   PMID:11177389  
PMID:11181075   PMID:11260720   PMID:11264300   PMID:11340079   PMID:11387340   PMID:11395500   PMID:11406564   PMID:11420686   PMID:11423904   PMID:11431480   PMID:11437602   PMID:11479289  
PMID:11514563   PMID:11555640   PMID:11583996   PMID:11683038   PMID:11684016   PMID:11717445   PMID:11733517   PMID:11734564   PMID:11735112   PMID:11741396   PMID:11741985   PMID:11751056  
PMID:11751897   PMID:11752160   PMID:11772515   PMID:11788820   PMID:11832478   PMID:11865194   PMID:11877293   PMID:11917123   PMID:11933563   PMID:11940602   PMID:11965497   PMID:11978827  
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PMID:19122169   PMID:19124506   PMID:19125371   PMID:19141860   PMID:19152111   PMID:19160091   PMID:19166881   PMID:19170196   PMID:19176810   PMID:19203830   PMID:19214542   PMID:19214744  
PMID:19219602   PMID:19239323   PMID:19240112   PMID:19258216   PMID:19260109   PMID:19269008   PMID:19275584   PMID:19275586   PMID:19276244   PMID:19289465   PMID:19318553   PMID:19343040  
PMID:19345995   PMID:19372376   PMID:19373245   PMID:19412632   PMID:19414860   PMID:19427028   PMID:19432816   PMID:19453261   PMID:19470771   PMID:19483105   PMID:19492233   PMID:19493480  
PMID:19521670   PMID:19524512   PMID:19524513   PMID:19528225   PMID:19531679   PMID:19542541   PMID:19543235   PMID:19549685   PMID:19550122   PMID:19573080   PMID:19593445   PMID:19597472  
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PMID:25403406   PMID:25450619   PMID:25451151   PMID:25457551   PMID:25476903   PMID:25502557   PMID:25526311   PMID:25551360   PMID:25553350   PMID:25640309   PMID:25665064   PMID:25697054  
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PMID:31827280   PMID:31982308   PMID:32053770   PMID:32122970   PMID:32296183   PMID:32313199   PMID:32442541   PMID:32492030   PMID:32597834   PMID:32657447   PMID:32707033   PMID:32807832  
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PMID:36192481   PMID:36215168   PMID:36227681   PMID:36268590   PMID:36373674   PMID:36460775   PMID:36505410   PMID:36576886   PMID:36580018   PMID:36591753   PMID:36593108   PMID:36647737  
PMID:36647955   PMID:36675207   PMID:36708447   PMID:36852999   PMID:36894003   PMID:37016353   PMID:37096570   PMID:37128789   PMID:37625331   PMID:37699387   PMID:37827155   PMID:37957232  
PMID:38007509   PMID:38186679   PMID:38319288   PMID:38372637  


Genomics

Comparative Map Data
CASP8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382201,233,463 - 201,287,711 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2201,233,443 - 201,361,836 (+)EnsemblGRCh38hg38GRCh38
GRCh372202,098,166 - 202,152,434 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362201,806,411 - 201,860,679 (+)NCBINCBI36Build 36hg18NCBI36
Build 342201,923,718 - 201,972,144NCBI
Celera2195,852,777 - 195,904,249 (+)NCBICelera
Cytogenetic Map2q33.1NCBI
HuRef2193,949,530 - 194,000,819 (+)NCBIHuRef
CHM1_12202,104,145 - 202,158,454 (+)NCBICHM1_1
T2T-CHM13v2.02201,716,914 - 201,768,369 (+)NCBIT2T-CHM13v2.0
Casp8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39158,834,553 - 58,886,663 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl158,834,533 - 58,886,662 (+)EnsemblGRCm39 Ensembl
GRCm38158,795,233 - 58,847,503 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl158,795,374 - 58,847,503 (+)EnsemblGRCm38mm10GRCm38
MGSCv37158,852,218 - 58,904,347 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36158,740,040 - 58,791,559 (+)NCBIMGSCv36mm8
Celera159,314,392 - 59,366,511 (+)NCBICelera
Cytogenetic Map1C1.3NCBI
cM Map129.19NCBI
Casp8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8967,747,109 - 67,806,699 (+)NCBIGRCr8
mRatBN7.2960,263,863 - 60,312,542 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl960,264,075 - 60,312,542 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx968,759,278 - 68,807,629 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0973,875,236 - 73,923,588 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0972,193,497 - 72,241,846 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0965,614,142 - 65,662,624 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl965,614,142 - 65,662,106 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0965,420,843 - 65,469,468 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4957,389,353 - 57,437,803 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1957,536,334 - 57,584,785 (+)NCBI
Celera957,705,001 - 57,753,027 (+)NCBICelera
Cytogenetic Map9q31NCBI
Casp8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955403322,555 - 347,053 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955403322,082 - 348,591 (-)NCBIChiLan1.0ChiLan1.0
CASP8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213103,859,979 - 103,910,906 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B103,874,960 - 103,924,789 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B88,490,611 - 88,542,132 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B206,645,803 - 206,696,468 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B206,669,544 - 206,696,468 (+)Ensemblpanpan1.1panPan2
CASP8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13710,362,071 - 10,402,108 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3710,391,048 - 10,401,822 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3711,274,820 - 11,285,607 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03710,285,147 - 10,307,094 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3710,287,599 - 10,308,036 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13710,276,467 - 10,287,238 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03710,255,470 - 10,266,223 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03710,248,774 - 10,259,550 (+)NCBIUU_Cfam_GSD_1.0
Casp8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303158,584,293 - 158,626,147 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936726554,758 - 595,922 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936726554,627 - 596,334 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CASP8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15104,923,953 - 104,948,468 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115104,923,659 - 104,948,470 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215116,337,232 - 116,340,859 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CASP8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11086,888,654 - 86,944,159 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1086,916,527 - 86,943,829 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040112,478,130 - 112,535,645 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Casp8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624899424,363 - 451,087 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624899427,064 - 450,931 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CASP8
301 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001372051.1(CASP8):c.1228_1229del (p.Val410fs) microsatellite Hepatocellular carcinoma [RCV000008202] Chr2:201285238..201285239 [GRCh38]
Chr2:202149961..202149962 [GRCh37]
Chr2:2q33.1
pathogenic|other
NM_001228.4(CASP8):c.-937_-932del deletion Lung cancer, protection against [RCV000008204] Chr2:201232809..201232814 [GRCh38]
Chr2:202097532..202097537 [GRCh37]
Chr2:2q33.1
protective
NM_001372051.1(CASP8):c.159G>C (p.Met53Ile) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000640971] Chr2:201266645 [GRCh38]
Chr2:202131368 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.102G>A (p.Lys34=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000640974] Chr2:201266588 [GRCh38]
Chr2:202131311 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.1165C>T (p.Gln389Ter) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000778584] Chr2:201285178 [GRCh38]
Chr2:202149901 [GRCh37]
Chr2:2q33.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001372051.1(CASP8):c.742C>T (p.Arg248Trp) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000008201] Chr2:201276908 [GRCh38]
Chr2:202141631 [GRCh37]
Chr2:2q33.1
pathogenic|likely pathogenic
NM_001372051.1(CASP8):c.853G>C (p.Asp285His) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000308703]|Breast cancer, protection against [RCV000008203]|not provided [RCV001711066]|not specified [RCV000454902] Chr2:201284866 [GRCh38]
Chr2:202149589 [GRCh37]
Chr2:2q33.1
benign|likely benign|protective
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q33.1-34(chr2:198095810-211803453)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|See cases [RCV000052603] Chr2:198095810..211803453 [GRCh38]
Chr2:198960534..212668178 [GRCh37]
Chr2:198668779..212376423 [NCBI36]
Chr2:2q33.1-34
pathogenic
GRCh38/hg38 2q33.1-33.2(chr2:200520961-203566211)x1 copy number loss See cases [RCV000052605] Chr2:200520961..203566211 [GRCh38]
Chr2:201385684..204430934 [GRCh37]
Chr2:201093929..204139179 [NCBI36]
Chr2:2q33.1-33.2
pathogenic
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 copy number loss See cases [RCV000052558] Chr2:176304445..202039790 [GRCh38]
Chr2:177169173..202904513 [GRCh37]
Chr2:176877419..202612758 [NCBI36]
Chr2:2q31.1-33.1
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1 copy number loss See cases [RCV000135341] Chr2:195660594..203969488 [GRCh38]
Chr2:196525318..204834211 [GRCh37]
Chr2:196233563..204542456 [NCBI36]
Chr2:2q32.3-33.2
pathogenic
GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1 copy number loss See cases [RCV000135665] Chr2:197400023..202089348 [GRCh38]
Chr2:198264747..202954071 [GRCh37]
Chr2:197972992..202662316 [NCBI36]
Chr2:2q33.1
likely pathogenic
GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1 copy number loss See cases [RCV000136596] Chr2:198767347..202353840 [GRCh38]
Chr2:199632071..203218563 [GRCh37]
Chr2:199340316..202926808 [NCBI36]
Chr2:2q33.1
pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2
pathogenic
GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 copy number loss See cases [RCV000141254] Chr2:192938826..215705052 [GRCh38]
Chr2:193803552..216569775 [GRCh37]
Chr2:193511797..216278020 [NCBI36]
Chr2:2q32.3-35
pathogenic
GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1 copy number loss See cases [RCV000141076] Chr2:199946494..209985195 [GRCh38]
Chr2:200811217..210849919 [GRCh37]
Chr2:200519462..210558164 [NCBI36]
Chr2:2q33.1-34
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1 copy number loss See cases [RCV000143301] Chr2:199937273..210031924 [GRCh38]
Chr2:200801996..210896648 [GRCh37]
Chr2:200510241..210604893 [NCBI36]
Chr2:2q33.1-34
pathogenic
NM_001372051.1(CASP8):c.*98C>T single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000262319] Chr2:201286692 [GRCh38]
Chr2:202151415 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.960G>A (p.Lys320=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000264077]|not provided [RCV001653615] Chr2:201284973 [GRCh38]
Chr2:202149696 [GRCh37]
Chr2:2q33.1
benign
NM_001372051.1(CASP8):c.1304+12C>T single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000360030] Chr2:201285329 [GRCh38]
Chr2:202150052 [GRCh37]
Chr2:2q33.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001372051.1(CASP8):c.1308C>T (p.Gly436=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000268336] Chr2:201286462 [GRCh38]
Chr2:202151185 [GRCh37]
Chr2:2q33.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2q33.1(chr2:200776457-203070949)x3 copy number gain See cases [RCV000240410] Chr2:200776457..203070949 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.*927AT[6] microsatellite Autoimmune lymphoproliferative syndrome type 2B [RCV000299203] Chr2:201287520..201287521 [GRCh38]
Chr2:202152243..202152244 [GRCh37]
Chr2:2q33.1
benign
NM_001372051.1(CASP8):c.*812T>A single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000353377] Chr2:201287406 [GRCh38]
Chr2:202152129 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.306-1918T>C single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000376018]|not provided [RCV001563391]|not specified [RCV001727692] Chr2:201269598 [GRCh38]
Chr2:202134321 [GRCh37]
Chr2:2q33.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001372051.1(CASP8):c.660+6C>T single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000315487] Chr2:201274959 [GRCh38]
Chr2:202139682 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.*60C>T single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000316445]|not provided [RCV001590974] Chr2:201286654 [GRCh38]
Chr2:202151377 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_001372051.1(CASP8):c.*429A>G single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000400121] Chr2:201287023 [GRCh38]
Chr2:202151746 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_001372051.1(CASP8):c.*464T>C single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000301834] Chr2:201287058 [GRCh38]
Chr2:202151781 [GRCh37]
Chr2:2q33.1
benign
NM_001372051.1(CASP8):c.1038T>C (p.Pro346=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000302893] Chr2:201285051 [GRCh38]
Chr2:202149774 [GRCh37]
Chr2:2q33.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001372051.1(CASP8):c.*316C>T single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000289046] Chr2:201286910 [GRCh38]
Chr2:202151633 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.*99G>A single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000319831]|not provided [RCV001536213] Chr2:201286693 [GRCh38]
Chr2:202151416 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_001372051.1(CASP8):c.*755G>A single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000305525] Chr2:201287349 [GRCh38]
Chr2:202152072 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_001372051.1(CASP8):c.*591T>C single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000407889] Chr2:201287185 [GRCh38]
Chr2:202151908 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.*845T>A single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000407891] Chr2:201287439 [GRCh38]
Chr2:202152162 [GRCh37]
Chr2:2q33.1
benign
NM_001372051.1(CASP8):c.*122G>C single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000385953]|not provided [RCV001613085] Chr2:201286716 [GRCh38]
Chr2:202151439 [GRCh37]
Chr2:2q33.1
benign
NM_001372051.1(CASP8):c.789A>G (p.Thr263=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000343647] Chr2:201276955 [GRCh38]
Chr2:202141678 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_001372051.1(CASP8):c.339C>T (p.Ser113=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000293283]|Familial cancer of breast [RCV002504124]|not provided [RCV003326414] Chr2:201271549 [GRCh38]
Chr2:202136272 [GRCh37]
Chr2:2q33.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001372051.1(CASP8):c.919A>G (p.Met307Val) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000365652] Chr2:201284932 [GRCh38]
Chr2:202149655 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.*411G>C single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000346378] Chr2:201287005 [GRCh38]
Chr2:202151728 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_001372051.1(CASP8):c.443A>G (p.Lys148Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000392968] Chr2:201272669 [GRCh38]
Chr2:202137392 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.843C>A (p.Ile281=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000392973] Chr2:201284856 [GRCh38]
Chr2:202149579 [GRCh37]
Chr2:2q33.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001372051.1(CASP8):c.432A>G (p.Ile144Met) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000350531]|CASP8-related condition [RCV003401353]|not provided [RCV000788888] Chr2:201272658 [GRCh38]
Chr2:202137381 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.*175C>T single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000351272]|not provided [RCV001534324] Chr2:201286769 [GRCh38]
Chr2:202151492 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_001372051.1(CASP8):c.*83G>A single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000373394]|not provided [RCV001653616]|not specified [RCV003488551] Chr2:201286677 [GRCh38]
Chr2:202151400 [GRCh37]
Chr2:2q33.1
benign|likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001372051.1(CASP8):c.*124C>T single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000293921] Chr2:201286718 [GRCh38]
Chr2:202151441 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.*304C>T single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000389454] Chr2:201286898 [GRCh38]
Chr2:202151621 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.*578C>A single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000340624] Chr2:201287172 [GRCh38]
Chr2:202151895 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.1001A>G (p.Tyr334Cys) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000640972] Chr2:201285014 [GRCh38]
Chr2:202149737 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.306-1928C>T single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000640973] Chr2:201269588 [GRCh38]
Chr2:202134311 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.603G>C (p.Glu201Asp) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001138362] Chr2:201274896 [GRCh38]
Chr2:202139619 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.*346C>T single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001138479] Chr2:201286940 [GRCh38]
Chr2:202151663 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001228.5(CASP8):c.-26-8189A>G single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001518111]|not provided [RCV001675894]|not specified [RCV000455301] Chr2:201258272 [GRCh38]
Chr2:202122995 [GRCh37]
Chr2:2q33.1
benign
NM_001127391.3(FLACC1):c.1122G>A (p.Thr374=) single nucleotide variant not specified [RCV000455346] Chr2:201289477 [GRCh38]
Chr2:202154200 [GRCh37]
Chr2:2q33.1
benign
NM_001228.5(CASP8):c.-26-8228T>C single nucleotide variant not provided [RCV001643144]|not specified [RCV000455928] Chr2:201258233 [GRCh38]
Chr2:202122956 [GRCh37]
Chr2:2q33.1
benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001372051.1(CASP8):c.892A>G (p.Ile298Val) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000640975] Chr2:201284905 [GRCh38]
Chr2:202149628 [GRCh37]
Chr2:2q33.1
likely benign|conflicting interpretations of pathogenicity
NM_001372051.1(CASP8):c.812C>G (p.Thr271Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000557590] Chr2:201284825 [GRCh38]
Chr2:202149548 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.1103G>C (p.Gly368Ala) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000698633] Chr2:201285116 [GRCh38]
Chr2:202149839 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1 copy number loss not provided [RCV000682165] Chr2:191750202..202297376 [GRCh37]
Chr2:2q32.2-33.1
pathogenic
NM_001372051.1(CASP8):c.306-1971A>G single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000695268] Chr2:201269545 [GRCh38]
Chr2:202134268 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.286G>T (p.Ala96Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000692027] Chr2:201266772 [GRCh38]
Chr2:202131495 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q33.1(chr2:201692776-202127717)x3 copy number gain not provided [RCV000740841] Chr2:201692776..202127717 [GRCh37]
Chr2:2q33.1
benign
NM_001372051.1(CASP8):c.412-7C>T single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001489276] Chr2:201272631 [GRCh38]
Chr2:202137354 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.803-2881_803-2880insATCTATCAATGTTATGCCCACTGTGCTCTCCAGCTGTGGTCTG insertion Autoimmune lymphoproliferative syndrome type 2B [RCV000986977] Chr2:201281935..201281936 [GRCh38]
Chr2:202146658..202146659 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.660+77dup duplication not provided [RCV001691139] Chr2:201275016..201275017 [GRCh38]
Chr2:202139739..202139740 [GRCh37]
Chr2:2q33.1
benign
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2
pathogenic
NM_001372051.1(CASP8):c.1304+9_1304+96del deletion Autoimmune lymphoproliferative syndrome type 2B [RCV001486220] Chr2:201285326..201285413 [GRCh38]
Chr2:202150049..202150136 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.852C>T (p.His284=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000904138] Chr2:201284865 [GRCh38]
Chr2:202149588 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.775G>A (p.Asp259Asn) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001048674]|not provided [RCV001772251] Chr2:201276941 [GRCh38]
Chr2:202141664 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_001372051.1(CASP8):c.159G>A (p.Met53Ile) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000767915]|Familial cancer of breast [RCV003224393] Chr2:201266645 [GRCh38]
Chr2:202131368 [GRCh37]
Chr2:2q33.1
uncertain significance
NC_000002.12:g.(?_201276807)_(201276988_?)dup duplication Autoimmune lymphoproliferative syndrome type 2B [RCV001031240] Chr2:202141530..202141711 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_001372051.1(CASP8):c.896A>C (p.Tyr299Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001070429] Chr2:201284909 [GRCh38]
Chr2:202149632 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.778A>G (p.Arg260Gly) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000810280] Chr2:201276944 [GRCh38]
Chr2:202141667 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.777C>T (p.Asp259=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002066219] Chr2:201276943 [GRCh38]
Chr2:202141666 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.75G>A (p.Leu25=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000980704] Chr2:201266561 [GRCh38]
Chr2:202131284 [GRCh37]
Chr2:2q33.1
likely benign
NC_000002.12:g.(?_201228913)_(201286614_?)del deletion Autoimmune lymphoproliferative syndrome type 2B [RCV000816628] Chr2:201228913..201286614 [GRCh38]
Chr2:202093636..202151337 [GRCh37]
Chr2:2q33.1
pathogenic
NM_001372051.1(CASP8):c.1310A>T (p.Asp437Val) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000803460] Chr2:201286464 [GRCh38]
Chr2:202151187 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.519G>C (p.Lys173Asn) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000820628] Chr2:201272745 [GRCh38]
Chr2:202137468 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.1137C>T (p.Pro379=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000937679] Chr2:201285150 [GRCh38]
Chr2:202149873 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.802+4C>A single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000809708] Chr2:201276972 [GRCh38]
Chr2:202141695 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.1129G>A (p.Glu377Lys) single nucleotide variant not provided [RCV000997645] Chr2:201285142 [GRCh38]
Chr2:202149865 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.306-1980C>A single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001137946] Chr2:201269536 [GRCh38]
Chr2:202134259 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.469T>C (p.Leu157=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001137948] Chr2:201272695 [GRCh38]
Chr2:202137418 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.761T>G (p.Leu254Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000792694] Chr2:201276927 [GRCh38]
Chr2:202141650 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.*194T>A single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001138053] Chr2:201286788 [GRCh38]
Chr2:202151511 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.*223C>T single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001138054] Chr2:201286817 [GRCh38]
Chr2:202151540 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.*266C>G single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001138055] Chr2:201286860 [GRCh38]
Chr2:202151583 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.*272A>G single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001138056] Chr2:201286866 [GRCh38]
Chr2:202151589 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.397C>G (p.Leu133Val) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000824446] Chr2:201271607 [GRCh38]
Chr2:202136330 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.803G>T (p.Gly268Val) single nucleotide variant not provided [RCV000788889] Chr2:201284816 [GRCh38]
Chr2:202149539 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.701G>A (p.Gly234Glu) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000795615] Chr2:201276867 [GRCh38]
Chr2:202141590 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34
pathogenic
NM_001372051.1(CASP8):c.452T>C (p.Ile151Thr) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001137947] Chr2:201272678 [GRCh38]
Chr2:202137401 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.803-2986C>G single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000986976] Chr2:201281830 [GRCh38]
Chr2:202146553 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.94C>G (p.Gln32Glu) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001248049] Chr2:201266580 [GRCh38]
Chr2:202131303 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.1169C>T (p.Thr390Met) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001222117] Chr2:201285182 [GRCh38]
Chr2:202149905 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.43G>A (p.Asp15Asn) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001230579] Chr2:201266529 [GRCh38]
Chr2:202131252 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001228.5(CASP8):c.-208A>G single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001140842] Chr2:201233538 [GRCh38]
Chr2:202098261 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.*314C>T single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001138057] Chr2:201286908 [GRCh38]
Chr2:202151631 [GRCh37]
Chr2:2q33.1
uncertain significance
NC_000002.11:g.(?_201943606)_(204824322_?)dup duplication Autoimmune lymphoproliferative syndrome type 2B [RCV003105677]|Immunodeficiency, common variable, 1 [RCV003122553] Chr2:201943606..204824322 [GRCh37]
Chr2:2q33.1-33.2
uncertain significance
NM_001372051.1(CASP8):c.306-2095G>T single nucleotide variant not provided [RCV001715725] Chr2:201269421 [GRCh38]
Chr2:202134144 [GRCh37]
Chr2:2q33.1
benign
NM_001372051.1(CASP8):c.305+73T>G single nucleotide variant not provided [RCV001714421] Chr2:201266864 [GRCh38]
Chr2:202131587 [GRCh37]
Chr2:2q33.1
benign
NM_001372051.1(CASP8):c.1304+146G>C single nucleotide variant not provided [RCV001551967] Chr2:201285463 [GRCh38]
Chr2:202150186 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.363G>A (p.Lys121=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001479119] Chr2:201271573 [GRCh38]
Chr2:202136296 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.306-2014C>T single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001504204] Chr2:201269502 [GRCh38]
Chr2:202134225 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.655T>A (p.Ser219Thr) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV000974780] Chr2:201274948 [GRCh38]
Chr2:202139671 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.306-1954C>G single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001058073] Chr2:201269562 [GRCh38]
Chr2:202134285 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001228.5(CASP8):c.-117C>A single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001140844] Chr2:201234022 [GRCh38]
Chr2:202098745 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.994C>T (p.Pro332Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001227353] Chr2:201285007 [GRCh38]
Chr2:202149730 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.306-1949_306-1947delinsC indel Autoimmune lymphoproliferative syndrome type 2B [RCV001243840] Chr2:201269567..201269569 [GRCh38]
Chr2:202134290..202134292 [GRCh37]
Chr2:2q33.1
pathogenic
NM_001228.5(CASP8):c.-26-8076G>A single nucleotide variant not provided [RCV001090655] Chr2:201258385 [GRCh38]
Chr2:202123108 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_001372051.1(CASP8):c.-15C>A single nucleotide variant not provided [RCV001090656] Chr2:201266472 [GRCh38]
Chr2:202131195 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.883A>G (p.Ile295Val) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001244198] Chr2:201284896 [GRCh38]
Chr2:202149619 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.411+251C>T single nucleotide variant not provided [RCV001637619] Chr2:201271872 [GRCh38]
Chr2:202136595 [GRCh37]
Chr2:2q33.1
benign
NM_001372051.1(CASP8):c.1305-268A>G single nucleotide variant not provided [RCV001656238] Chr2:201286191 [GRCh38]
Chr2:202150914 [GRCh37]
Chr2:2q33.1
benign
NM_001372051.1(CASP8):c.802+147T>C single nucleotide variant not provided [RCV001678108] Chr2:201277115 [GRCh38]
Chr2:202141838 [GRCh37]
Chr2:2q33.1
benign
NM_001372051.1(CASP8):c.595+133del deletion not provided [RCV001580936]|not specified [RCV003399396] Chr2:201273059 [GRCh38]
Chr2:202137782 [GRCh37]
Chr2:2q33.1
benign|likely benign
NM_001372051.1(CASP8):c.411+285A>C single nucleotide variant not provided [RCV001689055] Chr2:201271906 [GRCh38]
Chr2:202136629 [GRCh37]
Chr2:2q33.1
benign
NM_001372051.1(CASP8):c.660+262G>C single nucleotide variant not provided [RCV001638422] Chr2:201275215 [GRCh38]
Chr2:202139938 [GRCh37]
Chr2:2q33.1
benign
NM_001372051.1(CASP8):c.815C>G (p.Thr272Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001043432] Chr2:201284828 [GRCh38]
Chr2:202149551 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.*166G>C single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001142794] Chr2:201286760 [GRCh38]
Chr2:202151483 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.*891C>T single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001141035] Chr2:201287485 [GRCh38]
Chr2:202152208 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001228.5(CASP8):c.-83T>C single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001140845] Chr2:201234056 [GRCh38]
Chr2:202098779 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.*71G>A single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001140951]|not provided [RCV003229018] Chr2:201286665 [GRCh38]
Chr2:202151388 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.*686C>T single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001138480] Chr2:201287280 [GRCh38]
Chr2:202152003 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.415C>A (p.Leu139Met) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001061600] Chr2:201272641 [GRCh38]
Chr2:202137364 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.595+133dup duplication not provided [RCV001641491] Chr2:201273058..201273059 [GRCh38]
Chr2:202137781..202137782 [GRCh37]
Chr2:2q33.1
benign
NM_001372051.1(CASP8):c.595+122_595+123insC insertion not provided [RCV001641542] Chr2:201273064..201273065 [GRCh38]
Chr2:202137787..202137788 [GRCh37]
Chr2:2q33.1
benign
NM_001372051.1(CASP8):c.357T>C (p.Ser119=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002573193]|not provided [RCV001565403] Chr2:201271567 [GRCh38]
Chr2:202136290 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.698G>A (p.Arg233Gln) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001138363] Chr2:201276864 [GRCh38]
Chr2:202141587 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.709C>G (p.Leu237Val) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001219883] Chr2:201276875 [GRCh38]
Chr2:202141598 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.306-1911G>A single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001236956] Chr2:201269605 [GRCh38]
Chr2:202134328 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.1012T>C (p.Ser338Pro) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001231348] Chr2:201285025 [GRCh38]
Chr2:202149748 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.*107C>T single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001142793] Chr2:201286701 [GRCh38]
Chr2:202151424 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.202C>T (p.Arg68Ter) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001216905] Chr2:201266688 [GRCh38]
Chr2:202131411 [GRCh37]
Chr2:2q33.1
pathogenic
NM_001228.5(CASP8):c.-143T>G single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001140843] Chr2:201233603 [GRCh38]
Chr2:202098326 [GRCh37]
Chr2:2q33.1
benign
NM_001372051.1(CASP8):c.659A>G (p.Gln220Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001207214] Chr2:201274952 [GRCh38]
Chr2:202139675 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001228.4(CASP8):c.-310A>G single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001140841] Chr2:201233436 [GRCh38]
Chr2:202098159 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.260A>G (p.Glu87Gly) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001230370] Chr2:201266746 [GRCh38]
Chr2:202131469 [GRCh37]
Chr2:2q33.1
uncertain significance
Single allele deletion Pulmonary arterial hypertension [RCV001004033] Chr2:201106432..204901548 [GRCh37]
Chr2:2q33.1-33.3
pathogenic
NM_001372051.1(CASP8):c.528C>T (p.Asn176=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001137949] Chr2:201272754 [GRCh38]
Chr2:202137477 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.1012T>G (p.Ser338Ala) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001140950] Chr2:201285025 [GRCh38]
Chr2:202149748 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001228.5(CASP8):c.-26-8157C>A single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001267747] Chr2:201258304 [GRCh38]
Chr2:202123027 [GRCh37]
Chr2:2q33.1
likely benign
NM_001228.5(CASP8):c.-26-8138T>A single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001267748] Chr2:201258323 [GRCh38]
Chr2:202123046 [GRCh37]
Chr2:2q33.1
likely benign
GRCh37/hg19 2q33.1(chr2:202011822-202749788)x1 copy number loss not provided [RCV001258573] Chr2:202011822..202749788 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV002280608] Chr2:185697659..213002074 [GRCh37]
Chr2:2q32.1-34
pathogenic
NM_001372051.1(CASP8):c.120T>G (p.Asp40Glu) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001334877] Chr2:201266606 [GRCh38]
Chr2:202131329 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic
NM_001372051.1(CASP8):c.1303C>T (p.Arg435Ter) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001267745] Chr2:201285316 [GRCh38]
Chr2:202150039 [GRCh37]
Chr2:2q33.1
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001228.5(CASP8):c.-26-8094G>C single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001267746] Chr2:201258367 [GRCh38]
Chr2:202123090 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.329AAG[1] (p.Glu111del) microsatellite Autoimmune lymphoproliferative syndrome type 2B [RCV001297519] Chr2:201271537..201271539 [GRCh38]
Chr2:202136260..202136262 [GRCh37]
Chr2:2q33.1
uncertain significance
NC_000002.12:g.201231781G>A single nucleotide variant not provided [RCV001358164] Chr2:201231781 [GRCh38]
Chr2:202096504 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.819C>T (p.Thr273=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001397327] Chr2:201284832 [GRCh38]
Chr2:202149555 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.1304+2T>C single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001349431] Chr2:201285319 [GRCh38]
Chr2:202150042 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.251A>G (p.Glu84Gly) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001345064]|Inborn genetic diseases [RCV003169665] Chr2:201266737 [GRCh38]
Chr2:202131460 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.1048G>A (p.Gly350Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001351243]|Inborn genetic diseases [RCV002548475] Chr2:201285061 [GRCh38]
Chr2:202149784 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.971A>T (p.Tyr324Phe) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001295430] Chr2:201284984 [GRCh38]
Chr2:202149707 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.667G>A (p.Asp223Asn) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001359074] Chr2:201276833 [GRCh38]
Chr2:202141556 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.1430C>T (p.Pro477Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001330210] Chr2:201286584 [GRCh38]
Chr2:202151307 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001228.5(CASP8):c.-26-8118G>A single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001330209] Chr2:201258343 [GRCh38]
Chr2:202123066 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.92C>T (p.Pro31Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001326214] Chr2:201266578 [GRCh38]
Chr2:202131301 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.660+7G>A single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001473287] Chr2:201274960 [GRCh38]
Chr2:202139683 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.1182G>A (p.Pro394=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001473751] Chr2:201285195 [GRCh38]
Chr2:202149918 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.1380G>C (p.Gly460=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001486304] Chr2:201286534 [GRCh38]
Chr2:202151257 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.550+11C>G single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001503070] Chr2:201272787 [GRCh38]
Chr2:202137510 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.84C>T (p.Asp28=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001475781] Chr2:201266570 [GRCh38]
Chr2:202131293 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.1215T>C (p.Thr405=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001467019] Chr2:201285228 [GRCh38]
Chr2:202149951 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.414C>T (p.Asn138=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001491854] Chr2:201272640 [GRCh38]
Chr2:202137363 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.1305-19A>G single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001518112]|not provided [RCV001712930]|not specified [RCV003394096] Chr2:201286440 [GRCh38]
Chr2:202151163 [GRCh37]
Chr2:2q33.1
benign
NM_001372051.1(CASP8):c.1161A>C (p.Ser387=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001403164] Chr2:201285174 [GRCh38]
Chr2:202149897 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.969C>T (p.Ile323=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001449053] Chr2:201284982 [GRCh38]
Chr2:202149705 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.663T>G (p.Thr221=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001449076] Chr2:201276829 [GRCh38]
Chr2:202141552 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.1086G>C (p.Gly362=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001403770] Chr2:201285099 [GRCh38]
Chr2:202149822 [GRCh37]
Chr2:2q33.1
likely benign
NM_001228.5(CASP8):c.-26-6994T>C single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001542348] Chr2:201259467 [GRCh38]
Chr2:202124190 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.306-1910G>A single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001379656] Chr2:201269606 [GRCh38]
Chr2:202134329 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_001372051.1(CASP8):c.306-2012T>C single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001440700] Chr2:201269504 [GRCh38]
Chr2:202134227 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.1383A>G (p.Lys461=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001498736] Chr2:201286537 [GRCh38]
Chr2:202151260 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.411+9del deletion Autoimmune lymphoproliferative syndrome type 2B [RCV001469039] Chr2:201271630 [GRCh38]
Chr2:202136353 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.1305-42T>G single nucleotide variant not provided [RCV001715726] Chr2:201286417 [GRCh38]
Chr2:202151140 [GRCh37]
Chr2:2q33.1
benign
NM_001228.5(CASP8):c.-26-8469T>G single nucleotide variant not provided [RCV001671924] Chr2:201257992 [GRCh38]
Chr2:202122715 [GRCh37]
Chr2:2q33.1
benign
NM_001372051.1(CASP8):c.1158A>G (p.Ser386=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001498155] Chr2:201285171 [GRCh38]
Chr2:202149894 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.1170G>A (p.Thr390=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001503221] Chr2:201285183 [GRCh38]
Chr2:202149906 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.741A>G (p.Ala247=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001439922] Chr2:201276907 [GRCh38]
Chr2:202141630 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.1200G>A (p.Leu400=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001457630] Chr2:201285213 [GRCh38]
Chr2:202149936 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.93G>A (p.Pro31=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001498598] Chr2:201266579 [GRCh38]
Chr2:202131302 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.348A>G (p.Glu116=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001418135] Chr2:201271558 [GRCh38]
Chr2:202136281 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.1128G>C (p.Glu376Asp) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001435955]|Inborn genetic diseases [RCV002555535] Chr2:201285141 [GRCh38]
Chr2:202149864 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_001372051.1(CASP8):c.91C>T (p.Pro31Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001895790] Chr2:201266577 [GRCh38]
Chr2:202131300 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.940A>G (p.Ile314Val) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002025027] Chr2:201284953 [GRCh38]
Chr2:202149676 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.1292A>T (p.Glu431Val) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001911924] Chr2:201285305 [GRCh38]
Chr2:202150028 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.412-16T>G single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001929848] Chr2:201272622 [GRCh38]
Chr2:202137345 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
NM_001372051.1(CASP8):c.799G>A (p.Ala267Thr) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002003733] Chr2:201276965 [GRCh38]
Chr2:202141688 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.289C>A (p.Gln97Lys) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001968328] Chr2:201266775 [GRCh38]
Chr2:202131498 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.306-1993C>T single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001965938] Chr2:201269523 [GRCh38]
Chr2:202134246 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.306-1915A>G single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001987397] Chr2:201269601 [GRCh38]
Chr2:202134324 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.411+1G>C single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002040866] Chr2:201271622 [GRCh38]
Chr2:202136345 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_001372051.1(CASP8):c.431T>C (p.Ile144Thr) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001987135] Chr2:201272657 [GRCh38]
Chr2:202137380 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q33.1-34(chr2:200851079-209054267) copy number loss not specified [RCV002053275] Chr2:200851079..209054267 [GRCh37]
Chr2:2q33.1-34
pathogenic
NM_001372051.1(CASP8):c.1132C>A (p.Gln378Lys) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001969730] Chr2:201285145 [GRCh38]
Chr2:202149868 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.520A>G (p.Ile174Val) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001957185] Chr2:201272746 [GRCh38]
Chr2:202137469 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.401A>T (p.Asp134Val) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001883835] Chr2:201271611 [GRCh38]
Chr2:202136334 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.306-1935G>A single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001961926]|Inborn genetic diseases [RCV002550980] Chr2:201269581 [GRCh38]
Chr2:202134304 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.1211C>G (p.Ala404Gly) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001888594] Chr2:201285224 [GRCh38]
Chr2:202149947 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.306-1926A>G single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002031300] Chr2:201269590 [GRCh38]
Chr2:202134313 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.651T>G (p.Ser217Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002017403] Chr2:201274944 [GRCh38]
Chr2:202139667 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.1109C>T (p.Pro370Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001990987] Chr2:201285122 [GRCh38]
Chr2:202149845 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.306-1981del deletion Autoimmune lymphoproliferative syndrome type 2B [RCV001867191] Chr2:201269533 [GRCh38]
Chr2:202134256 [GRCh37]
Chr2:2q33.1
pathogenic
NM_001372051.1(CASP8):c.673G>C (p.Val225Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001977929] Chr2:201276839 [GRCh38]
Chr2:202141562 [GRCh37]
Chr2:2q33.1
uncertain significance
NC_000002.11:g.(?_202131210)_(202137519_?)dup duplication Autoimmune lymphoproliferative syndrome type 2B [RCV002016802] Chr2:202131210..202137519 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.399G>A (p.Leu133=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001875155] Chr2:201271609 [GRCh38]
Chr2:202136332 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NC_000002.11:g.(?_201943606)_(204824322_?)del deletion Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency [RCV001950956]|Autoimmune lymphoproliferative syndrome type 2B [RCV001950955]|Immunodeficiency, common variable, 1 [RCV003120780] Chr2:201943606..204824322 [GRCh37]
Chr2:2q33.1-33.2
pathogenic
NM_001372051.1(CASP8):c.48T>A (p.Ser16Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001953058] Chr2:201266534 [GRCh38]
Chr2:202131257 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.637A>G (p.Arg213Gly) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002033745] Chr2:201274930 [GRCh38]
Chr2:202139653 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.853G>A (p.Asp285Asn) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002033008] Chr2:201284866 [GRCh38]
Chr2:202149589 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.311T>C (p.Met104Thr) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001877785] Chr2:201271521 [GRCh38]
Chr2:202136244 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.959A>C (p.Lys320Thr) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001940870] Chr2:201284972 [GRCh38]
Chr2:202149695 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.23A>G (p.Tyr8Cys) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001997201] Chr2:201266509 [GRCh38]
Chr2:202131232 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.879T>A (p.Tyr293Ter) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001898605] Chr2:201284892 [GRCh38]
Chr2:202149615 [GRCh37]
Chr2:2q33.1
pathogenic
NM_001372051.1(CASP8):c.607T>A (p.Cys203Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001922272] Chr2:201274900 [GRCh38]
Chr2:202139623 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.1307G>A (p.Gly436Asp) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001878937]|Inborn genetic diseases [RCV003348557] Chr2:201286461 [GRCh38]
Chr2:202151184 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.26A>G (p.Asp9Gly) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001960144] Chr2:201266512 [GRCh38]
Chr2:202131235 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.1118C>T (p.Thr373Ile) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001990004] Chr2:201285131 [GRCh38]
Chr2:202149854 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.1198C>A (p.Leu400Met) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002009795] Chr2:201285211 [GRCh38]
Chr2:202149934 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.697C>T (p.Arg233Trp) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV001972128]|Inborn genetic diseases [RCV003264300] Chr2:201276863 [GRCh38]
Chr2:202141586 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.1201C>T (p.Leu401=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002128576] Chr2:201285214 [GRCh38]
Chr2:202149937 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.756C>T (p.Pro252=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002106411] Chr2:201276922 [GRCh38]
Chr2:202141645 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.306-2017G>T single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002108225] Chr2:201269499 [GRCh38]
Chr2:202134222 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.306-2020T>C single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002111691] Chr2:201269496 [GRCh38]
Chr2:202134219 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.1104T>C (p.Gly368=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002153227] Chr2:201285117 [GRCh38]
Chr2:202149840 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.234C>T (p.Tyr78=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002211813] Chr2:201266720 [GRCh38]
Chr2:202131443 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.660+14T>A single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002075597] Chr2:201274967 [GRCh38]
Chr2:202139690 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.957C>T (p.Asp319=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002211564] Chr2:201284970 [GRCh38]
Chr2:202149693 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.596-12C>T single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002096455] Chr2:201274877 [GRCh38]
Chr2:202139600 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.803-14A>T single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002191474] Chr2:201284802 [GRCh38]
Chr2:202149525 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.267A>G (p.Glu89=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002191926] Chr2:201266753 [GRCh38]
Chr2:202131476 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.1266C>T (p.Ile422=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002138960] Chr2:201285279 [GRCh38]
Chr2:202150002 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.480G>C (p.Leu160=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002176184] Chr2:201272706 [GRCh38]
Chr2:202137429 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.465A>G (p.Gly155=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002184471] Chr2:201272691 [GRCh38]
Chr2:202137414 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.306-2015C>G single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002182635] Chr2:201269501 [GRCh38]
Chr2:202134224 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.411+7C>T single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002203523] Chr2:201271628 [GRCh38]
Chr2:202136351 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.195G>A (p.Leu65=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002162379] Chr2:201266681 [GRCh38]
Chr2:202131404 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.972T>C (p.Tyr324=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002123473] Chr2:201284985 [GRCh38]
Chr2:202149708 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.864A>G (p.Thr288=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002219944] Chr2:201284877 [GRCh38]
Chr2:202149600 [GRCh37]
Chr2:2q33.1
likely benign
GRCh37/hg19 2q33.1(chr2:201838259-202711243)x3 copy number gain CYSTIC HYGROMA, VSD [RCV002282736] Chr2:201838259..202711243 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1 copy number loss not provided [RCV002473800] Chr2:189909904..209468383 [GRCh37]
Chr2:2q32.2-34
pathogenic
NM_001372051.1(CASP8):c.635C>G (p.Pro212Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003144662] Chr2:201274928 [GRCh38]
Chr2:202139651 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.293T>G (p.Ile98Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002299622] Chr2:201266779 [GRCh38]
Chr2:202131502 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.155G>A (p.Arg52Lys) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002305043] Chr2:201266641 [GRCh38]
Chr2:202131364 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.618G>C (p.Met206Ile) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002295494] Chr2:201274911 [GRCh38]
Chr2:202139634 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.697C>G (p.Arg233Gly) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002294857] Chr2:201276863 [GRCh38]
Chr2:202141586 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.426T>C (p.Ile142=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002726455] Chr2:201272652 [GRCh38]
Chr2:202137375 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.305+14_305+19del deletion Autoimmune lymphoproliferative syndrome type 2B [RCV002730944] Chr2:201266804..201266809 [GRCh38]
Chr2:202131527..202131532 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.367C>A (p.Leu123Ile) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003011765] Chr2:201271577 [GRCh38]
Chr2:202136300 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.1159T>C (p.Ser387Pro) single nucleotide variant Inborn genetic diseases [RCV002970570] Chr2:201285172 [GRCh38]
Chr2:202149895 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.1197T>C (p.Phe399=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002996113] Chr2:201285210 [GRCh38]
Chr2:202149933 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.550+20C>T single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002908328] Chr2:201272796 [GRCh38]
Chr2:202137519 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.1169C>A (p.Thr390Lys) single nucleotide variant Inborn genetic diseases [RCV002849383] Chr2:201285182 [GRCh38]
Chr2:202149905 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.112A>G (p.Ile38Val) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002640550] Chr2:201266598 [GRCh38]
Chr2:202131321 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.550+17A>G single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002800313] Chr2:201272793 [GRCh38]
Chr2:202137516 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.412-9T>G single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002593212] Chr2:201272629 [GRCh38]
Chr2:202137352 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.749A>G (p.Lys250Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003039546] Chr2:201276915 [GRCh38]
Chr2:202141638 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.306-1992G>A single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003078101] Chr2:201269524 [GRCh38]
Chr2:202134247 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.615A>G (p.Val205=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002638024] Chr2:201274908 [GRCh38]
Chr2:202139631 [GRCh37]
Chr2:2q33.1
likely benign|uncertain significance
NM_001372051.1(CASP8):c.334G>A (p.Val112Met) single nucleotide variant Inborn genetic diseases [RCV002911365] Chr2:201271544 [GRCh38]
Chr2:202136267 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.306-1930dup duplication Autoimmune lymphoproliferative syndrome type 2B [RCV002638923] Chr2:201269583..201269584 [GRCh38]
Chr2:202134306..202134307 [GRCh37]
Chr2:2q33.1
pathogenic
NM_001372051.1(CASP8):c.174T>C (p.Asn58=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002638694] Chr2:201266660 [GRCh38]
Chr2:202131383 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.1264A>C (p.Ile422Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002820477] Chr2:201285277 [GRCh38]
Chr2:202150000 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.306G>A (p.Arg102=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003036743] Chr2:201271516 [GRCh38]
Chr2:202136239 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.920T>G (p.Met307Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002999053] Chr2:201284933 [GRCh38]
Chr2:202149656 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.99G>T (p.Arg33Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002979704] Chr2:201266585 [GRCh38]
Chr2:202131308 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.1415A>G (p.Lys472Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002781553] Chr2:201286569 [GRCh38]
Chr2:202151292 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.706T>C (p.Cys236Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003619814]|Inborn genetic diseases [RCV002886729] Chr2:201276872 [GRCh38]
Chr2:202141595 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.342A>T (p.Arg114Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002927286] Chr2:201271552 [GRCh38]
Chr2:202136275 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.306-1990A>G single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003100502] Chr2:201269526 [GRCh38]
Chr2:202134249 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.244A>G (p.Arg82Gly) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003026137] Chr2:201266730 [GRCh38]
Chr2:202131453 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.679C>T (p.Gln227Ter) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002890277] Chr2:201276845 [GRCh38]
Chr2:202141568 [GRCh37]
Chr2:2q33.1
pathogenic
NM_001372051.1(CASP8):c.306-1945C>A single nucleotide variant Inborn genetic diseases [RCV002742512] Chr2:201269571 [GRCh38]
Chr2:202134294 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.1378G>T (p.Gly460Trp) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002928348] Chr2:201286532 [GRCh38]
Chr2:202151255 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.1304G>A (p.Arg435Gln) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003083776] Chr2:201285317 [GRCh38]
Chr2:202150040 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.661-18T>C single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002853122] Chr2:201276809 [GRCh38]
Chr2:202141532 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.505A>C (p.Lys169Gln) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002626650] Chr2:201272731 [GRCh38]
Chr2:202137454 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.495C>T (p.Ala165=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003058609] Chr2:201272721 [GRCh38]
Chr2:202137444 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.815C>A (p.Thr272Lys) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002741422] Chr2:201284828 [GRCh38]
Chr2:202149551 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.306-1954_306-1953del microsatellite Autoimmune lymphoproliferative syndrome type 2B [RCV002967234] Chr2:201269559..201269560 [GRCh38]
Chr2:202134282..202134283 [GRCh37]
Chr2:2q33.1
pathogenic
NM_001372051.1(CASP8):c.411+17T>C single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002632158] Chr2:201271638 [GRCh38]
Chr2:202136361 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.912C>T (p.His304=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002581877] Chr2:201284925 [GRCh38]
Chr2:202149648 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.1322C>T (p.Thr441Ile) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003044808] Chr2:201286476 [GRCh38]
Chr2:202151199 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.983dup (p.Gln329fs) duplication Autoimmune lymphoproliferative syndrome type 2B [RCV002632653] Chr2:201284994..201284995 [GRCh38]
Chr2:202149717..202149718 [GRCh37]
Chr2:2q33.1
pathogenic
NM_001372051.1(CASP8):c.519G>T (p.Lys173Asn) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003028012] Chr2:201272745 [GRCh38]
Chr2:202137468 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.306-2006G>A single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002937131] Chr2:201269510 [GRCh38]
Chr2:202134233 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.262A>G (p.Arg88Gly) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002938758] Chr2:201266748 [GRCh38]
Chr2:202131471 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.306-2000C>T single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003030722] Chr2:201269516 [GRCh38]
Chr2:202134239 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.867A>G (p.Val289=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002811861] Chr2:201284880 [GRCh38]
Chr2:202149603 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.1349_1352del (p.Val450fs) deletion Autoimmune lymphoproliferative syndrome type 2B [RCV003061539] Chr2:201286500..201286503 [GRCh38]
Chr2:202151223..202151226 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.455T>G (p.Leu152Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003047944] Chr2:201272681 [GRCh38]
Chr2:202137404 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.824A>G (p.Glu275Gly) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002791614] Chr2:201284837 [GRCh38]
Chr2:202149560 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.1184A>T (p.Asp395Val) single nucleotide variant Inborn genetic diseases [RCV002895963] Chr2:201285197 [GRCh38]
Chr2:202149920 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.550+3A>G single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002672226] Chr2:201272779 [GRCh38]
Chr2:202137502 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.1071T>A (p.Ile357=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002770882] Chr2:201285084 [GRCh38]
Chr2:202149807 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.25G>A (p.Asp9Asn) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002604543] Chr2:201266511 [GRCh38]
Chr2:202131234 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.306-1974C>A single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002605731] Chr2:201269542 [GRCh38]
Chr2:202134265 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.655T>G (p.Ser219Ala) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002584887] Chr2:201274948 [GRCh38]
Chr2:202139671 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.429_430insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGAAGCTCCCAAGATGACTACCTCCAGCCTCTGGCCACAGGGAACCTTCTTCATATCCCACAAGCAAAGGAGCTGGATATTTTC (p.Phe143_Ile144insPhePhePhePhePhePheXaaXaaXaaXaaGlySerSerGlnAspAspTyrLeuGlnProLeuAlaThrGlyAsnLeuLeuHisIleProGlnAlaLysGluLeuAspIlePhe) insertion Autoimmune lymphoproliferative syndrome type 2B [RCV003052336] Chr2:201272642..201272643 [GRCh38]
Chr2:202137365..202137366 [GRCh37]
Chr2:2q33.1
pathogenic
NM_001372051.1(CASP8):c.68A>G (p.Lys23Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003067178] Chr2:201266554 [GRCh38]
Chr2:202131277 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.633T>G (p.Ser211=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002604079] Chr2:201274926 [GRCh38]
Chr2:202139649 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.803-10C>T single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV002585399] Chr2:201284806 [GRCh38]
Chr2:202149529 [GRCh37]
Chr2:2q33.1
likely benign
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1
pathogenic
NM_001372051.1(CASP8):c.491G>A (p.Cys164Tyr) single nucleotide variant Inborn genetic diseases [RCV003384854] Chr2:201272717 [GRCh38]
Chr2:202137440 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.948C>G (p.Ser316=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003873307] Chr2:201284961 [GRCh38]
Chr2:202149684 [GRCh37]
Chr2:2q33.1
likely benign
NM_001228.5(CASP8):c.-26-8200T>G single nucleotide variant not provided [RCV003440130] Chr2:201258261 [GRCh38]
Chr2:202122984 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.1175A>G (p.Tyr392Cys) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003509161] Chr2:201285188 [GRCh38]
Chr2:202149911 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.198C>T (p.Leu66=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003825695] Chr2:201266684 [GRCh38]
Chr2:202131407 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.483A>G (p.Lys161=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003509130] Chr2:201272709 [GRCh38]
Chr2:202137432 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.978T>A (p.Thr326=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003510741] Chr2:201284991 [GRCh38]
Chr2:202149714 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.323T>C (p.Ile108Thr) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003510844] Chr2:201271533 [GRCh38]
Chr2:202136256 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.474C>T (p.Asp158=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003509176] Chr2:201272700 [GRCh38]
Chr2:202137423 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.492_493del (p.Ala165fs) microsatellite Autoimmune lymphoproliferative syndrome type 2B [RCV003510173] Chr2:201272716..201272717 [GRCh38]
Chr2:202137439..202137440 [GRCh37]
Chr2:2q33.1
pathogenic
NM_001372051.1(CASP8):c.33G>A (p.Gly11=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003849604] Chr2:201266519 [GRCh38]
Chr2:202131242 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.330A>G (p.Glu110=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003849584] Chr2:201271540 [GRCh38]
Chr2:202136263 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.412-10C>T single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003620775] Chr2:201272628 [GRCh38]
Chr2:202137351 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.802+7T>C single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003620939] Chr2:201276975 [GRCh38]
Chr2:202141698 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.1305-7A>G single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003620798] Chr2:201286452 [GRCh38]
Chr2:202151175 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.305+16del deletion Autoimmune lymphoproliferative syndrome type 2B [RCV003619960] Chr2:201266805 [GRCh38]
Chr2:202131528 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.306-1892T>A single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003620679] Chr2:201269624 [GRCh38]
Chr2:202134347 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.808T>C (p.Leu270=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003620364] Chr2:201284821 [GRCh38]
Chr2:202149544 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.485G>T (p.Arg162Ile) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003620700] Chr2:201272711 [GRCh38]
Chr2:202137434 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.1041C>A (p.Ser347=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003619346] Chr2:201285054 [GRCh38]
Chr2:202149777 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.927C>T (p.Cys309=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003620183] Chr2:201284940 [GRCh38]
Chr2:202149663 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.306-2018G>A single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003619401] Chr2:201269498 [GRCh38]
Chr2:202134221 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.1057A>G (p.Lys353Glu) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003620903] Chr2:201285070 [GRCh38]
Chr2:202149793 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.306-4A>C single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003620517] Chr2:201271512 [GRCh38]
Chr2:202136235 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.306-1978G>T single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003619487] Chr2:201269538 [GRCh38]
Chr2:202134261 [GRCh37]
Chr2:2q33.1
pathogenic
NM_001372051.1(CASP8):c.305+18T>C single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003619536] Chr2:201266809 [GRCh38]
Chr2:202131532 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.1042C>G (p.Leu348Val) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003619530] Chr2:201285055 [GRCh38]
Chr2:202149778 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.918del (p.Asn306fs) deletion Autoimmune lymphoproliferative syndrome type 2B [RCV003619638] Chr2:201284931 [GRCh38]
Chr2:202149654 [GRCh37]
Chr2:2q33.1
pathogenic
NM_001372051.1(CASP8):c.1294C>T (p.Arg432Ter) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003619911] Chr2:201285307 [GRCh38]
Chr2:202150030 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.802+7T>A single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003620012] Chr2:201276975 [GRCh38]
Chr2:202141698 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.901C>A (p.Leu301Ile) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003620451] Chr2:201284914 [GRCh38]
Chr2:202149637 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.306-1976del deletion Autoimmune lymphoproliferative syndrome type 2B [RCV003620040] Chr2:201269539 [GRCh38]
Chr2:202134262 [GRCh37]
Chr2:2q33.1
pathogenic
NM_001372051.1(CASP8):c.315C>T (p.Leu105=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003620068] Chr2:201271525 [GRCh38]
Chr2:202136248 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.412-7C>G single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003837891] Chr2:201272631 [GRCh38]
Chr2:202137354 [GRCh37]
Chr2:2q33.1
likely benign
GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1 copy number loss not specified [RCV003986323] Chr2:194305623..215261531 [GRCh37]
Chr2:2q32.3-34
pathogenic
NM_001372051.1(CASP8):c.412-18del deletion Autoimmune lymphoproliferative syndrome type 2B [RCV003870826] Chr2:201272618 [GRCh38]
Chr2:202137341 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.509G>A (p.Ser170Asn) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003862305] Chr2:201272735 [GRCh38]
Chr2:202137458 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.1200_1201delinsTT (p.Leu400_Leu401=) indel Autoimmune lymphoproliferative syndrome type 2B [RCV003847744] Chr2:201285213..201285214 [GRCh38]
Chr2:202149936..202149937 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.491G>T (p.Cys164Phe) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003621284] Chr2:201272717 [GRCh38]
Chr2:202137440 [GRCh37]
Chr2:2q33.1
uncertain significance
NM_001372051.1(CASP8):c.828G>A (p.Glu276=) single nucleotide variant Autoimmune lymphoproliferative syndrome type 2B [RCV003621375] Chr2:201284841 [GRCh38]
Chr2:202149564 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.553A>C (p.Arg185=) single nucleotide variant CASP8-related condition [RCV003911493] Chr2:201272900 [GRCh38]
Chr2:202137623 [GRCh37]
Chr2:2q33.1
likely benign
NM_001372051.1(CASP8):c.630C>T (p.Asp210=) single nucleotide variant CASP8-related condition [RCV003913961] Chr2:201274923 [GRCh38]
Chr2:202139646 [GRCh37]
Chr2:2q33.1
likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIRLET7A2hsa-let-7a-5pMirtarbaseexternal_infoWestern blotNon-Functional MTI18758960
MIRLET7A1hsa-let-7a-5pMirtarbaseexternal_infoWestern blotNon-Functional MTI18758960

Predicted Target Of
Summary Value
Count of predictions:6164
Count of miRNA genes:1079
Interacting mature miRNAs:1308
Transcripts:ENST00000264274, ENST00000264275, ENST00000323492, ENST00000339403, ENST00000358485, ENST00000392258, ENST00000392259, ENST00000392263, ENST00000392266, ENST00000413726, ENST00000424461, ENST00000429881, ENST00000432109, ENST00000437283, ENST00000440732, ENST00000444430, ENST00000447616, ENST00000450491, ENST00000471383, ENST00000490412, ENST00000490682
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
RH15884  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372202,140,757 - 202,140,934UniSTSGRCh37
Build 362201,849,002 - 201,849,179RGDNCBI36
Celera2195,895,365 - 195,895,542RGD
Cytogenetic Map2q33-q34UniSTS
HuRef2193,991,935 - 193,992,112UniSTS
GeneMap99-GB4 RH Map2626.65UniSTS
NCBI RH Map21528.4UniSTS
RH78960  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372202,152,075 - 202,152,220UniSTSGRCh37
Build 362201,860,320 - 201,860,465RGDNCBI36
Celera2195,903,890 - 195,904,035RGD
Cytogenetic Map2q33-q34UniSTS
HuRef2194,000,460 - 194,000,605UniSTS
GeneMap99-GB4 RH Map2626.65UniSTS
D2S1853  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372202,138,753 - 202,138,905UniSTSGRCh37
Build 362201,846,998 - 201,847,150RGDNCBI36
Celera2195,893,361 - 195,893,513RGD
Cytogenetic Map2q33-q34UniSTS
HuRef2193,989,931 - 193,990,083UniSTS
Whitehead-YAC Contig Map2 UniSTS
G29514  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372202,096,297 - 202,096,397UniSTSGRCh37
Build 362201,804,542 - 201,804,642RGDNCBI36
Celera2195,850,908 - 195,851,008RGD
Cytogenetic Map2q33-q34UniSTS
HuRef2193,947,667 - 193,947,767UniSTS
RH70497  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372202,096,254 - 202,096,402UniSTSGRCh37
Build 362201,804,499 - 201,804,647RGDNCBI36
Celera2195,850,865 - 195,851,013RGD
Cytogenetic Map2q33-q34UniSTS
HuRef2193,947,624 - 193,947,772UniSTS
GeneMap99-GB4 RH Map2626.65UniSTS
NCBI RH Map21528.4UniSTS
A008P44  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372202,109,068 - 202,109,244UniSTSGRCh37
Build 362201,817,313 - 201,817,489RGDNCBI36
Celera2195,863,679 - 195,863,855RGD
Cytogenetic Map2q33-q34UniSTS
HuRef2193,960,431 - 193,960,607UniSTS
GeneMap99-GB4 RH Map2626.65UniSTS
PMC230316P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372202,149,630 - 202,150,009UniSTSGRCh37
Build 362201,857,875 - 201,858,254RGDNCBI36
Celera2195,901,445 - 195,901,824RGD
Cytogenetic Map2q33-q34UniSTS
HuRef2193,998,015 - 193,998,394UniSTS
RH70951  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372202,131,210 - 202,131,455UniSTSGRCh37
Build 362201,839,455 - 201,839,700RGDNCBI36
Celera2195,885,818 - 195,886,063RGD
Cytogenetic Map2q33-q34UniSTS
HuRef2193,982,248 - 193,982,493UniSTS
GeneMap99-GB4 RH Map2626.65UniSTS
NCBI RH Map21528.4UniSTS
RH36454  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372202,109,018 - 202,109,228UniSTSGRCh37
Build 362201,817,263 - 201,817,473RGDNCBI36
Celera2195,863,629 - 195,863,839RGD
Cytogenetic Map2q33-q34UniSTS
HuRef2193,960,381 - 193,960,591UniSTS
GeneMap99-GB4 RH Map2626.65UniSTS
D8S2278  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3p25.3-p24.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic MapXp22.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map12q14.3-q15UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q31UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
GDB:631813  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11p12UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map5q11.2-q13.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map3p21.33UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map19p13.3UniSTS


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 366 620 145 73 1580 72 270 39 44 156 256 769 13 146 62 3
Low 2072 2297 1580 551 371 393 3769 1770 2750 263 1201 834 158 1058 2409 2 2
Below cutoff 1 73 1 317 387 935 3 9 3 1 317

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001080124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001080125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001372051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001400751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_111983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_174564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_174565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_174581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_174582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_174583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_174584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_174585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_174586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_174588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_174589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_174590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_174591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_174592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_174593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_174594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_174595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_174596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_174598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_174599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_174600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_174601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_174602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007082538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007082539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_923035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA312258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB038985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF009620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF207672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF380342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF422926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF422927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF422928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF422929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI351872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL600571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL601594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL702116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX134419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY429525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG236020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG498355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX395849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB990598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA420056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB157537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ355026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU168332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU670044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HA637638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI179126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI179128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI179130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI179132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN657192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF765385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U58143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U60520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X98172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X98173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X98174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X98175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X98176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X98177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X98178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000264274   ⟹   ENSP00000264274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2201,233,443 - 201,287,711 (+)Ensembl
RefSeq Acc Id: ENST00000264275   ⟹   ENSP00000264275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2201,233,466 - 201,286,729 (+)Ensembl
RefSeq Acc Id: ENST00000323492   ⟹   ENSP00000325722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2201,260,500 - 201,287,709 (+)Ensembl
RefSeq Acc Id: ENST00000339403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2201,258,324 - 201,286,656 (+)Ensembl
RefSeq Acc Id: ENST00000358485   ⟹   ENSP00000351273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2201,258,036 - 201,287,711 (+)Ensembl
RefSeq Acc Id: ENST00000392258   ⟹   ENSP00000376087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2201,233,506 - 201,281,915 (+)Ensembl
RefSeq Acc Id: ENST00000392263   ⟹   ENSP00000376091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2201,233,443 - 201,286,594 (+)Ensembl
RefSeq Acc Id: ENST00000392266   ⟹   ENSP00000376094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2201,258,091 - 201,278,161 (+)Ensembl
RefSeq Acc Id: ENST00000413726   ⟹   ENSP00000397528
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2201,258,035 - 201,287,685 (+)Ensembl
RefSeq Acc Id: ENST00000424461   ⟹   ENSP00000390346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2201,272,638 - 201,281,859 (+)Ensembl
RefSeq Acc Id: ENST00000429881   ⟹   ENSP00000390641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2201,261,952 - 201,272,776 (+)Ensembl
RefSeq Acc Id: ENST00000432109   ⟹   ENSP00000412523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2201,233,463 - 201,286,594 (+)Ensembl
RefSeq Acc Id: ENST00000437283   ⟹   ENSP00000407378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2201,258,118 - 201,272,738 (+)Ensembl
RefSeq Acc Id: ENST00000440732   ⟹   ENSP00000396869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2201,233,502 - 201,286,594 (+)Ensembl
RefSeq Acc Id: ENST00000444430   ⟹   ENSP00000394434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2201,266,487 - 201,287,711 (+)Ensembl
RefSeq Acc Id: ENST00000447616   ⟹   ENSP00000388306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2201,257,980 - 201,281,859 (+)Ensembl
RefSeq Acc Id: ENST00000450491   ⟹   ENSP00000391709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2201,233,486 - 201,286,594 (+)Ensembl
RefSeq Acc Id: ENST00000471383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2201,233,470 - 201,272,919 (+)Ensembl
RefSeq Acc Id: ENST00000490412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2201,258,119 - 201,272,725 (+)Ensembl
RefSeq Acc Id: ENST00000490682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2201,233,463 - 201,242,925 (+)Ensembl
RefSeq Acc Id: ENST00000673742   ⟹   ENSP00000501268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2201,260,536 - 201,287,709 (+)Ensembl
RefSeq Acc Id: ENST00000696066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2201,233,461 - 201,241,223 (+)Ensembl
RefSeq Acc Id: ENST00000696067   ⟹   ENSP00000512369
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2201,233,466 - 201,287,602 (+)Ensembl
RefSeq Acc Id: ENST00000696068   ⟹   ENSP00000512370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2201,258,081 - 201,287,654 (+)Ensembl
RefSeq Acc Id: ENST00000696069   ⟹   ENSP00000512371
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2201,266,487 - 201,361,836 (+)Ensembl
RefSeq Acc Id: ENST00000696085   ⟹   ENSP00000512381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2201,258,110 - 201,287,649 (+)Ensembl
RefSeq Acc Id: ENST00000696086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2201,284,740 - 201,287,631 (+)Ensembl
RefSeq Acc Id: ENST00000696087   ⟹   ENSP00000512382
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2201,258,051 - 201,287,631 (+)Ensembl
RefSeq Acc Id: NM_001080124   ⟹   NP_001073593
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,233,463 - 201,287,709 (+)NCBI
GRCh372202,098,166 - 202,152,434 (+)ENTREZGENE
Build 362201,806,411 - 201,860,679 (+)NCBI Archive
HuRef2193,949,530 - 194,000,819 (+)ENTREZGENE
CHM1_12202,104,145 - 202,158,454 (+)NCBI
T2T-CHM13v2.02201,716,914 - 201,768,367 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001080125   ⟹   NP_001073594
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,258,035 - 201,287,709 (+)NCBI
GRCh372202,098,166 - 202,152,434 (+)ENTREZGENE
Build 362201,830,999 - 201,860,679 (+)NCBI Archive
HuRef2193,949,530 - 194,000,819 (+)ENTREZGENE
CHM1_12202,128,733 - 202,158,454 (+)NCBI
T2T-CHM13v2.02201,741,488 - 201,768,367 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001228   ⟹   NP_001219
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,233,463 - 201,287,709 (+)NCBI
GRCh372202,098,166 - 202,152,434 (+)ENTREZGENE
Build 362201,806,411 - 201,860,679 (+)NCBI Archive
HuRef2193,949,530 - 194,000,819 (+)ENTREZGENE
CHM1_12202,104,145 - 202,158,454 (+)NCBI
T2T-CHM13v2.02201,716,914 - 201,768,367 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001372051   ⟹   NP_001358980
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,260,536 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,743,985 - 201,768,367 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001400642   ⟹   NP_001387571
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,258,035 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,741,488 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400645   ⟹   NP_001387574
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,258,035 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,741,488 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400648   ⟹   NP_001387577
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,233,463 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,716,914 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400651   ⟹   NP_001387580
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,233,463 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,716,914 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400653   ⟹   NP_001387582
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,260,536 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,743,985 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400654   ⟹   NP_001387583
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,258,035 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,741,488 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400655   ⟹   NP_001387584
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,258,035 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,741,488 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400656   ⟹   NP_001387585
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,258,035 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,741,488 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400657   ⟹   NP_001387586
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,233,463 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,716,914 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400658   ⟹   NP_001387587
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,258,035 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,741,488 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400659   ⟹   NP_001387588
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,260,536 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,743,985 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400660   ⟹   NP_001387589
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,233,463 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,716,914 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400661   ⟹   NP_001387590
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,233,463 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,716,914 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400662   ⟹   NP_001387591
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,258,035 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,741,488 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400663   ⟹   NP_001387592
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,233,463 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,716,914 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400664   ⟹   NP_001387593
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,260,536 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,743,985 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400665   ⟹   NP_001387594
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,258,035 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,741,488 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400666   ⟹   NP_001387595
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,260,536 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,743,985 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400667   ⟹   NP_001387596
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,260,536 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,743,985 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400668   ⟹   NP_001387597
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,258,035 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,741,488 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400669   ⟹   NP_001387598
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,233,463 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,716,914 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400670   ⟹   NP_001387599
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,260,536 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,743,985 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400671   ⟹   NP_001387600
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,260,536 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,743,985 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400672   ⟹   NP_001387601
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,260,536 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,743,985 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400673   ⟹   NP_001387602
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,260,536 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,743,985 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400674   ⟹   NP_001387603
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,260,536 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,743,985 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400675   ⟹   NP_001387604
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,260,536 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,743,985 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400676   ⟹   NP_001387605
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,260,536 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,743,985 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400677   ⟹   NP_001387606
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,233,463 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,716,914 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400678   ⟹   NP_001387607
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,258,035 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,741,488 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400679   ⟹   NP_001387608
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,233,463 - 201,277,542 (+)NCBI
T2T-CHM13v2.02201,716,914 - 201,760,993 (+)NCBI
RefSeq Acc Id: NM_001400680   ⟹   NP_001387609
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,233,463 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,716,914 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400750   ⟹   NP_001387679
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,258,035 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,741,488 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_001400751   ⟹   NP_001387680
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,258,035 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,741,488 - 201,768,367 (+)NCBI
RefSeq Acc Id: NM_033355   ⟹   NP_203519
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,233,463 - 201,287,709 (+)NCBI
GRCh372202,098,166 - 202,152,434 (+)ENTREZGENE
Build 362201,806,411 - 201,860,679 (+)NCBI Archive
HuRef2193,949,530 - 194,000,819 (+)ENTREZGENE
CHM1_12202,104,145 - 202,158,454 (+)NCBI
T2T-CHM13v2.02201,716,914 - 201,768,367 (+)NCBI
Sequence:
RefSeq Acc Id: NM_033356   ⟹   NP_203520
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,260,536 - 201,287,709 (+)NCBI
GRCh372202,098,166 - 202,152,434 (+)ENTREZGENE
Build 362201,833,468 - 201,860,679 (+)NCBI Archive
HuRef2193,949,530 - 194,000,819 (+)ENTREZGENE
CHM1_12202,131,202 - 202,158,454 (+)NCBI
T2T-CHM13v2.02201,743,985 - 201,768,367 (+)NCBI
Sequence:
RefSeq Acc Id: NR_111983
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,258,035 - 201,287,709 (+)NCBI
CHM1_12202,128,733 - 202,158,454 (+)NCBI
T2T-CHM13v2.02201,741,488 - 201,768,367 (+)NCBI
Sequence:
RefSeq Acc Id: NR_174564
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,260,536 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,743,985 - 201,768,367 (+)NCBI
RefSeq Acc Id: NR_174565
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,233,463 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,716,914 - 201,768,367 (+)NCBI
RefSeq Acc Id: NR_174581
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,233,463 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,716,914 - 201,768,367 (+)NCBI
RefSeq Acc Id: NR_174582
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,233,463 - 201,243,264 (+)NCBI
T2T-CHM13v2.02201,716,914 - 201,726,714 (+)NCBI
RefSeq Acc Id: NR_174583
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,233,463 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,716,914 - 201,768,367 (+)NCBI
RefSeq Acc Id: NR_174584
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,258,035 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,741,488 - 201,768,367 (+)NCBI
RefSeq Acc Id: NR_174585
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,258,035 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,741,488 - 201,768,367 (+)NCBI
RefSeq Acc Id: NR_174586
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,258,035 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,741,488 - 201,768,367 (+)NCBI
RefSeq Acc Id: NR_174588
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,233,463 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,716,914 - 201,768,367 (+)NCBI
RefSeq Acc Id: NR_174589
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,260,536 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,743,985 - 201,768,367 (+)NCBI
RefSeq Acc Id: NR_174590
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,233,463 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,716,914 - 201,768,367 (+)NCBI
RefSeq Acc Id: NR_174591
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,258,035 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,741,488 - 201,768,367 (+)NCBI
RefSeq Acc Id: NR_174592
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,258,035 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,741,488 - 201,768,367 (+)NCBI
RefSeq Acc Id: NR_174593
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,258,035 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,741,488 - 201,768,367 (+)NCBI
RefSeq Acc Id: NR_174594
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,233,463 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,716,914 - 201,768,367 (+)NCBI
RefSeq Acc Id: NR_174595
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,260,536 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,743,985 - 201,768,367 (+)NCBI
RefSeq Acc Id: NR_174596
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,260,536 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,743,985 - 201,768,367 (+)NCBI
RefSeq Acc Id: NR_174598
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,233,463 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,716,914 - 201,768,367 (+)NCBI
RefSeq Acc Id: NR_174599
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,260,536 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,743,985 - 201,768,367 (+)NCBI
RefSeq Acc Id: NR_174600
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,258,035 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,741,488 - 201,768,367 (+)NCBI
RefSeq Acc Id: NR_174601
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,258,035 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,741,488 - 201,768,367 (+)NCBI
RefSeq Acc Id: NR_174602
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,260,536 - 201,287,709 (+)NCBI
T2T-CHM13v2.02201,743,985 - 201,768,367 (+)NCBI
RefSeq Acc Id: XM_005246893   ⟹   XP_005246950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,258,035 - 201,284,902 (+)NCBI
GRCh372202,098,166 - 202,152,434 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011511969   ⟹   XP_011510271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,266,702 - 201,287,711 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047445959   ⟹   XP_047301915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,258,035 - 201,287,711 (+)NCBI
RefSeq Acc Id: XM_047445960   ⟹   XP_047301916
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,260,536 - 201,287,711 (+)NCBI
RefSeq Acc Id: XM_047445961   ⟹   XP_047301917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,258,035 - 201,287,711 (+)NCBI
RefSeq Acc Id: XM_054344115   ⟹   XP_054200090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02201,741,488 - 201,768,369 (+)NCBI
RefSeq Acc Id: XM_054344116   ⟹   XP_054200091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02201,743,985 - 201,768,369 (+)NCBI
RefSeq Acc Id: XM_054344117   ⟹   XP_054200092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02201,750,148 - 201,768,369 (+)NCBI
RefSeq Acc Id: XM_054344118   ⟹   XP_054200093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02201,741,488 - 201,765,560 (+)NCBI
RefSeq Acc Id: XM_054344119   ⟹   XP_054200094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02201,741,488 - 201,768,369 (+)NCBI
RefSeq Acc Id: XR_007082538
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,258,035 - 201,284,903 (+)NCBI
RefSeq Acc Id: XR_007082539
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,260,536 - 201,284,903 (+)NCBI
RefSeq Acc Id: XR_008486541
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02201,743,985 - 201,765,561 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001073593 (Get FASTA)   NCBI Sequence Viewer  
  NP_001073594 (Get FASTA)   NCBI Sequence Viewer  
  NP_001219 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358980 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387571 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387574 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387577 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387580 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387582 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387583 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387584 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387585 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387586 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387587 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387588 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387589 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387590 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387591 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387592 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387593 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387594 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387595 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387596 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387597 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387598 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387599 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387600 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387601 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387602 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387603 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387604 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387605 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387606 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387607 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387608 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387609 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387679 (Get FASTA)   NCBI Sequence Viewer  
  NP_001387680 (Get FASTA)   NCBI Sequence Viewer  
  NP_203519 (Get FASTA)   NCBI Sequence Viewer  
  NP_203520 (Get FASTA)   NCBI Sequence Viewer  
  XP_005246950 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510271 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301915 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301916 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301917 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200090 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200091 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200092 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200093 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200094 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB70913 (Get FASTA)   NCBI Sequence Viewer  
  AAC50602 (Get FASTA)   NCBI Sequence Viewer  
  AAC50645 (Get FASTA)   NCBI Sequence Viewer  
  AAD24962 (Get FASTA)   NCBI Sequence Viewer  
  AAG10681 (Get FASTA)   NCBI Sequence Viewer  
  AAG10682 (Get FASTA)   NCBI Sequence Viewer  
  AAH68050 (Get FASTA)   NCBI Sequence Viewer  
  AAK57437 (Get FASTA)   NCBI Sequence Viewer  
  AAL87629 (Get FASTA)   NCBI Sequence Viewer  
  AAL87630 (Get FASTA)   NCBI Sequence Viewer  
  AAL87631 (Get FASTA)   NCBI Sequence Viewer  
  AAL87632 (Get FASTA)   NCBI Sequence Viewer  
  AAY24225 (Get FASTA)   NCBI Sequence Viewer  
  ABC67468 (Get FASTA)   NCBI Sequence Viewer  
  ABX09989 (Get FASTA)   NCBI Sequence Viewer  
  ACF93415 (Get FASTA)   NCBI Sequence Viewer  
  AFI38959 (Get FASTA)   NCBI Sequence Viewer  
  BAB32555 (Get FASTA)   NCBI Sequence Viewer  
  BAG70096 (Get FASTA)   NCBI Sequence Viewer  
  BAG70228 (Get FASTA)   NCBI Sequence Viewer  
  CAA66853 (Get FASTA)   NCBI Sequence Viewer  
  CAA66854 (Get FASTA)   NCBI Sequence Viewer  
  CAA66855 (Get FASTA)   NCBI Sequence Viewer  
  CAA66856 (Get FASTA)   NCBI Sequence Viewer  
  CAA66857 (Get FASTA)   NCBI Sequence Viewer  
  CAA66858 (Get FASTA)   NCBI Sequence Viewer  
  CAA66859 (Get FASTA)   NCBI Sequence Viewer  
  CAC39526 (Get FASTA)   NCBI Sequence Viewer  
  CAZ39541 (Get FASTA)   NCBI Sequence Viewer  
  CBX53871 (Get FASTA)   NCBI Sequence Viewer  
  CBX53872 (Get FASTA)   NCBI Sequence Viewer  
  CBX53873 (Get FASTA)   NCBI Sequence Viewer  
  CBX53874 (Get FASTA)   NCBI Sequence Viewer  
  EAW70253 (Get FASTA)   NCBI Sequence Viewer  
  EAW70254 (Get FASTA)   NCBI Sequence Viewer  
  EAW70258 (Get FASTA)   NCBI Sequence Viewer  
  EAW70262 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000264275
  ENSP00000264275.5
  ENSP00000325722
  ENSP00000325722.7
  ENSP00000351273
  ENSP00000351273.4
  ENSP00000376087
  ENSP00000376087.3
  ENSP00000376091
  ENSP00000376091.2
  ENSP00000388306.1
  ENSP00000388306.2
  ENSP00000390641.2
  ENSP00000391709
  ENSP00000391709.2
  ENSP00000394434
  ENSP00000394434.2
  ENSP00000394434.3
  ENSP00000396869
  ENSP00000396869.1
  ENSP00000396869.2
  ENSP00000397528
  ENSP00000397528.1
  ENSP00000397528.2
  ENSP00000407378.1
  ENSP00000412523
  ENSP00000412523.2
  ENSP00000501268
  ENSP00000501268.1
  ENSP00000512271.1
  ENSP00000512369
  ENSP00000512369.1
  ENSP00000512370.1
  ENSP00000512371
  ENSP00000512371.1
  ENSP00000512381
  ENSP00000512381.1
  ENSP00000512382
  ENSP00000512382.1
GenBank Protein Q14790 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001219   ⟸   NM_001228
- Peptide Label: isoform 1 precursor
- UniProtKB: B5BU46 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001073593   ⟸   NM_001080124
- Peptide Label: isoform 3
- UniProtKB: B5BU46 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_203519   ⟸   NM_033355
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9C0K4 (UniProtKB/Swiss-Prot),   Q96T22 (UniProtKB/Swiss-Prot),   Q8TDI5 (UniProtKB/Swiss-Prot),   Q8TDI4 (UniProtKB/Swiss-Prot),   Q8TDI3 (UniProtKB/Swiss-Prot),   Q8TDI2 (UniProtKB/Swiss-Prot),   Q8TDI1 (UniProtKB/Swiss-Prot),   Q53TT5 (UniProtKB/Swiss-Prot),   Q15806 (UniProtKB/Swiss-Prot),   Q15780 (UniProtKB/Swiss-Prot),   Q14796 (UniProtKB/Swiss-Prot),   Q14795 (UniProtKB/Swiss-Prot),   Q14794 (UniProtKB/Swiss-Prot),   Q14793 (UniProtKB/Swiss-Prot),   Q14792 (UniProtKB/Swiss-Prot),   Q14791 (UniProtKB/Swiss-Prot),   O14676 (UniProtKB/Swiss-Prot),   Q9UQ81 (UniProtKB/Swiss-Prot),   Q14790 (UniProtKB/Swiss-Prot),   B5BU46 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001073594   ⟸   NM_001080125
- Peptide Label: isoform 7 precursor
- UniProtKB: B5BU46 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_203520   ⟸   NM_033356
- Peptide Label: isoform 3
- UniProtKB: B5BU46 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005246950   ⟸   XM_005246893
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011510271   ⟸   XM_011511969
- Peptide Label: isoform X3
- UniProtKB: C9JB29 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001358980   ⟸   NM_001372051
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9C0K4 (UniProtKB/Swiss-Prot),   Q96T22 (UniProtKB/Swiss-Prot),   Q8TDI5 (UniProtKB/Swiss-Prot),   Q8TDI4 (UniProtKB/Swiss-Prot),   Q8TDI3 (UniProtKB/Swiss-Prot),   Q8TDI2 (UniProtKB/Swiss-Prot),   Q8TDI1 (UniProtKB/Swiss-Prot),   Q53TT5 (UniProtKB/Swiss-Prot),   Q15806 (UniProtKB/Swiss-Prot),   Q15780 (UniProtKB/Swiss-Prot),   Q14796 (UniProtKB/Swiss-Prot),   Q14795 (UniProtKB/Swiss-Prot),   Q14794 (UniProtKB/Swiss-Prot),   Q14793 (UniProtKB/Swiss-Prot),   Q14792 (UniProtKB/Swiss-Prot),   Q14791 (UniProtKB/Swiss-Prot),   Q14790 (UniProtKB/Swiss-Prot),   O14676 (UniProtKB/Swiss-Prot),   Q9UQ81 (UniProtKB/Swiss-Prot),   B5BU46 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000501268   ⟸   ENST00000673742
RefSeq Acc Id: ENSP00000390346   ⟸   ENST00000424461
RefSeq Acc Id: ENSP00000391709   ⟸   ENST00000450491
RefSeq Acc Id: ENSP00000397528   ⟸   ENST00000413726
RefSeq Acc Id: ENSP00000396869   ⟸   ENST00000440732
RefSeq Acc Id: ENSP00000390641   ⟸   ENST00000429881
RefSeq Acc Id: ENSP00000325722   ⟸   ENST00000323492
RefSeq Acc Id: ENSP00000394434   ⟸   ENST00000444430
RefSeq Acc Id: ENSP00000376094   ⟸   ENST00000392266
RefSeq Acc Id: ENSP00000376091   ⟸   ENST00000392263
RefSeq Acc Id: ENSP00000376087   ⟸   ENST00000392258
RefSeq Acc Id: ENSP00000412523   ⟸   ENST00000432109
RefSeq Acc Id: ENSP00000388306   ⟸   ENST00000447616
RefSeq Acc Id: ENSP00000264275   ⟸   ENST00000264275
RefSeq Acc Id: ENSP00000264274   ⟸   ENST00000264274
RefSeq Acc Id: ENSP00000407378   ⟸   ENST00000437283
RefSeq Acc Id: ENSP00000351273   ⟸   ENST00000358485
RefSeq Acc Id: ENSP00000512369   ⟸   ENST00000696067
RefSeq Acc Id: ENSP00000512381   ⟸   ENST00000696085
RefSeq Acc Id: ENSP00000512370   ⟸   ENST00000696068
RefSeq Acc Id: ENSP00000512382   ⟸   ENST00000696087
RefSeq Acc Id: ENSP00000512371   ⟸   ENST00000696069
RefSeq Acc Id: NP_001387580   ⟸   NM_001400651
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9C0K4 (UniProtKB/Swiss-Prot),   Q96T22 (UniProtKB/Swiss-Prot),   Q8TDI5 (UniProtKB/Swiss-Prot),   Q8TDI4 (UniProtKB/Swiss-Prot),   Q8TDI3 (UniProtKB/Swiss-Prot),   Q8TDI2 (UniProtKB/Swiss-Prot),   Q8TDI1 (UniProtKB/Swiss-Prot),   Q53TT5 (UniProtKB/Swiss-Prot),   Q15806 (UniProtKB/Swiss-Prot),   Q15780 (UniProtKB/Swiss-Prot),   Q14796 (UniProtKB/Swiss-Prot),   Q14795 (UniProtKB/Swiss-Prot),   Q14794 (UniProtKB/Swiss-Prot),   Q14793 (UniProtKB/Swiss-Prot),   Q14792 (UniProtKB/Swiss-Prot),   Q14791 (UniProtKB/Swiss-Prot),   Q14790 (UniProtKB/Swiss-Prot),   O14676 (UniProtKB/Swiss-Prot),   Q9UQ81 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001387592   ⟸   NM_001400663
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001387586   ⟸   NM_001400657
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9C0K4 (UniProtKB/Swiss-Prot),   Q96T22 (UniProtKB/Swiss-Prot),   Q8TDI5 (UniProtKB/Swiss-Prot),   Q8TDI4 (UniProtKB/Swiss-Prot),   Q8TDI3 (UniProtKB/Swiss-Prot),   Q8TDI2 (UniProtKB/Swiss-Prot),   Q8TDI1 (UniProtKB/Swiss-Prot),   Q53TT5 (UniProtKB/Swiss-Prot),   Q15806 (UniProtKB/Swiss-Prot),   Q15780 (UniProtKB/Swiss-Prot),   Q14796 (UniProtKB/Swiss-Prot),   Q14795 (UniProtKB/Swiss-Prot),   Q14794 (UniProtKB/Swiss-Prot),   Q14793 (UniProtKB/Swiss-Prot),   Q14792 (UniProtKB/Swiss-Prot),   Q14791 (UniProtKB/Swiss-Prot),   Q14790 (UniProtKB/Swiss-Prot),   O14676 (UniProtKB/Swiss-Prot),   Q9UQ81 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001387589   ⟸   NM_001400660
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001387606   ⟸   NM_001400677
- Peptide Label: isoform 18
RefSeq Acc Id: NP_001387598   ⟸   NM_001400669
- Peptide Label: isoform 14
RefSeq Acc Id: NP_001387577   ⟸   NM_001400648
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9C0K4 (UniProtKB/Swiss-Prot),   Q96T22 (UniProtKB/Swiss-Prot),   Q8TDI5 (UniProtKB/Swiss-Prot),   Q8TDI4 (UniProtKB/Swiss-Prot),   Q8TDI3 (UniProtKB/Swiss-Prot),   Q8TDI2 (UniProtKB/Swiss-Prot),   Q8TDI1 (UniProtKB/Swiss-Prot),   Q53TT5 (UniProtKB/Swiss-Prot),   Q15806 (UniProtKB/Swiss-Prot),   Q15780 (UniProtKB/Swiss-Prot),   Q14796 (UniProtKB/Swiss-Prot),   Q14795 (UniProtKB/Swiss-Prot),   Q14794 (UniProtKB/Swiss-Prot),   Q14793 (UniProtKB/Swiss-Prot),   Q14792 (UniProtKB/Swiss-Prot),   Q14791 (UniProtKB/Swiss-Prot),   Q14790 (UniProtKB/Swiss-Prot),   O14676 (UniProtKB/Swiss-Prot),   Q9UQ81 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001387609   ⟸   NM_001400680
- Peptide Label: isoform 17
RefSeq Acc Id: NP_001387590   ⟸   NM_001400661
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001387608   ⟸   NM_001400679
- Peptide Label: isoform 5
RefSeq Acc Id: XP_047301917   ⟸   XM_047445961
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047301915   ⟸   XM_047445959
- Peptide Label: isoform X1
RefSeq Acc Id: NP_001387571   ⟸   NM_001400642
- Peptide Label: isoform 8
- UniProtKB: A0A8Q3SID9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001387594   ⟸   NM_001400665
- Peptide Label: isoform 11
RefSeq Acc Id: NP_001387584   ⟸   NM_001400655
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9C0K4 (UniProtKB/Swiss-Prot),   Q96T22 (UniProtKB/Swiss-Prot),   Q8TDI5 (UniProtKB/Swiss-Prot),   Q8TDI4 (UniProtKB/Swiss-Prot),   Q8TDI3 (UniProtKB/Swiss-Prot),   Q8TDI2 (UniProtKB/Swiss-Prot),   Q8TDI1 (UniProtKB/Swiss-Prot),   Q53TT5 (UniProtKB/Swiss-Prot),   Q15806 (UniProtKB/Swiss-Prot),   Q15780 (UniProtKB/Swiss-Prot),   Q14796 (UniProtKB/Swiss-Prot),   Q14795 (UniProtKB/Swiss-Prot),   Q14794 (UniProtKB/Swiss-Prot),   Q14793 (UniProtKB/Swiss-Prot),   Q14792 (UniProtKB/Swiss-Prot),   Q14791 (UniProtKB/Swiss-Prot),   Q14790 (UniProtKB/Swiss-Prot),   O14676 (UniProtKB/Swiss-Prot),   Q9UQ81 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001387679   ⟸   NM_001400750
- Peptide Label: isoform 16
RefSeq Acc Id: NP_001387591   ⟸   NM_001400662
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001387680   ⟸   NM_001400751
- Peptide Label: isoform 18
RefSeq Acc Id: NP_001387574   ⟸   NM_001400645
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001387585   ⟸   NM_001400656
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9C0K4 (UniProtKB/Swiss-Prot),   Q96T22 (UniProtKB/Swiss-Prot),   Q8TDI5 (UniProtKB/Swiss-Prot),   Q8TDI4 (UniProtKB/Swiss-Prot),   Q8TDI3 (UniProtKB/Swiss-Prot),   Q8TDI2 (UniProtKB/Swiss-Prot),   Q8TDI1 (UniProtKB/Swiss-Prot),   Q53TT5 (UniProtKB/Swiss-Prot),   Q15806 (UniProtKB/Swiss-Prot),   Q15780 (UniProtKB/Swiss-Prot),   Q14796 (UniProtKB/Swiss-Prot),   Q14795 (UniProtKB/Swiss-Prot),   Q14794 (UniProtKB/Swiss-Prot),   Q14793 (UniProtKB/Swiss-Prot),   Q14792 (UniProtKB/Swiss-Prot),   Q14791 (UniProtKB/Swiss-Prot),   Q14790 (UniProtKB/Swiss-Prot),   O14676 (UniProtKB/Swiss-Prot),   Q9UQ81 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001387587   ⟸   NM_001400658
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001387607   ⟸   NM_001400678
- Peptide Label: isoform 18
RefSeq Acc Id: NP_001387597   ⟸   NM_001400668
- Peptide Label: isoform 13
RefSeq Acc Id: NP_001387583   ⟸   NM_001400654
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9C0K4 (UniProtKB/Swiss-Prot),   Q96T22 (UniProtKB/Swiss-Prot),   Q8TDI5 (UniProtKB/Swiss-Prot),   Q8TDI4 (UniProtKB/Swiss-Prot),   Q8TDI3 (UniProtKB/Swiss-Prot),   Q8TDI2 (UniProtKB/Swiss-Prot),   Q8TDI1 (UniProtKB/Swiss-Prot),   Q53TT5 (UniProtKB/Swiss-Prot),   Q15806 (UniProtKB/Swiss-Prot),   Q15780 (UniProtKB/Swiss-Prot),   Q14796 (UniProtKB/Swiss-Prot),   Q14795 (UniProtKB/Swiss-Prot),   Q14794 (UniProtKB/Swiss-Prot),   Q14793 (UniProtKB/Swiss-Prot),   Q14792 (UniProtKB/Swiss-Prot),   Q14791 (UniProtKB/Swiss-Prot),   Q14790 (UniProtKB/Swiss-Prot),   O14676 (UniProtKB/Swiss-Prot),   Q9UQ81 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047301916   ⟸   XM_047445960
- Peptide Label: isoform X2
RefSeq Acc Id: NP_001387603   ⟸   NM_001400674
- Peptide Label: isoform 17
RefSeq Acc Id: NP_001387599   ⟸   NM_001400670
- Peptide Label: isoform 15
RefSeq Acc Id: NP_001387600   ⟸   NM_001400671
- Peptide Label: isoform 16
RefSeq Acc Id: NP_001387595   ⟸   NM_001400666
- Peptide Label: isoform 12
RefSeq Acc Id: NP_001387593   ⟸   NM_001400664
- Peptide Label: isoform 10
RefSeq Acc Id: NP_001387605   ⟸   NM_001400676
- Peptide Label: isoform 18
RefSeq Acc Id: NP_001387596   ⟸   NM_001400667
- Peptide Label: isoform 13
RefSeq Acc Id: NP_001387582   ⟸   NM_001400653
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9C0K4 (UniProtKB/Swiss-Prot),   Q96T22 (UniProtKB/Swiss-Prot),   Q8TDI5 (UniProtKB/Swiss-Prot),   Q8TDI4 (UniProtKB/Swiss-Prot),   Q8TDI3 (UniProtKB/Swiss-Prot),   Q8TDI2 (UniProtKB/Swiss-Prot),   Q8TDI1 (UniProtKB/Swiss-Prot),   Q53TT5 (UniProtKB/Swiss-Prot),   Q15806 (UniProtKB/Swiss-Prot),   Q15780 (UniProtKB/Swiss-Prot),   Q14796 (UniProtKB/Swiss-Prot),   Q14795 (UniProtKB/Swiss-Prot),   Q14794 (UniProtKB/Swiss-Prot),   Q14793 (UniProtKB/Swiss-Prot),   Q14792 (UniProtKB/Swiss-Prot),   Q14791 (UniProtKB/Swiss-Prot),   Q14790 (UniProtKB/Swiss-Prot),   O14676 (UniProtKB/Swiss-Prot),   Q9UQ81 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001387602   ⟸   NM_001400673
- Peptide Label: isoform 16
RefSeq Acc Id: NP_001387588   ⟸   NM_001400659
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001387601   ⟸   NM_001400672
- Peptide Label: isoform 16
RefSeq Acc Id: NP_001387604   ⟸   NM_001400675
- Peptide Label: isoform 18
RefSeq Acc Id: XP_054200094   ⟸   XM_054344119
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054200090   ⟸   XM_054344115
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054200093   ⟸   XM_054344118
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054200091   ⟸   XM_054344116
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054200092   ⟸   XM_054344117
- Peptide Label: isoform X3
Protein Domains
Caspase family p10   Caspase family p20   DED

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14790-F1-model_v2 AlphaFold Q14790 1-479 view protein structure

Promoters
RGD ID:6862526
Promoter ID:EPDNEW_H4428
Type:initiation region
Name:CASP8_1
Description:caspase 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4429  EPDNEW_H4430  EPDNEW_H4431  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,233,463 - 201,233,523EPDNEW
RGD ID:6862528
Promoter ID:EPDNEW_H4429
Type:initiation region
Name:CASP8_2
Description:caspase 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4428  EPDNEW_H4430  EPDNEW_H4431  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,258,035 - 201,258,095EPDNEW
RGD ID:6862530
Promoter ID:EPDNEW_H4430
Type:initiation region
Name:CASP8_4
Description:caspase 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4428  EPDNEW_H4429  EPDNEW_H4431  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,258,334 - 201,258,394EPDNEW
RGD ID:6862532
Promoter ID:EPDNEW_H4431
Type:initiation region
Name:CASP8_3
Description:caspase 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4428  EPDNEW_H4429  EPDNEW_H4430  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382201,260,563 - 201,260,623EPDNEW
RGD ID:6796945
Promoter ID:HG_KWN:36684
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000264274,   ENST00000303385,   ENST00000339403,   ENST00000343290,   ENST00000392259,   NM_001080124,   NM_001228,   NM_033355,   NM_033358,   OTTHUMT00000336853,   OTTHUMT00000336859,   OTTHUMT00000336860,   UC002UXN.2,   UC010FTC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362201,806,241 - 201,806,741 (+)MPROMDB
RGD ID:6796949
Promoter ID:HG_KWN:36685
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000392261,   ENST00000392264,   NM_001080125,   OTTHUMT00000257910,   OTTHUMT00000336861,   UC002UXS.1,   UC002UXU.1,   UC002UXV.1,   UC010FTD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362201,830,666 - 201,831,447 (+)MPROMDB
RGD ID:6796940
Promoter ID:HG_KWN:36686
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_033356
Position:
Human AssemblyChrPosition (strand)Source
Build 362201,833,299 - 201,833,799 (+)MPROMDB
RGD ID:6796941
Promoter ID:HG_KWN:36687
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   Jurkat,   Lymphoblastoid
Transcripts:OTTHUMT00000338655
Position:
Human AssemblyChrPosition (strand)Source
Build 362201,834,439 - 201,834,939 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1509 AgrOrtholog
COSMIC CASP8 COSMIC
Ensembl Genes ENSG00000064012 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264275 ENTREZGENE
  ENST00000264275.9 UniProtKB/Swiss-Prot
  ENST00000323492 ENTREZGENE
  ENST00000323492.11 UniProtKB/Swiss-Prot
  ENST00000339403.6 UniProtKB/TrEMBL
  ENST00000358485 ENTREZGENE
  ENST00000358485.8 UniProtKB/Swiss-Prot
  ENST00000392258 ENTREZGENE
  ENST00000392258.7 UniProtKB/Swiss-Prot
  ENST00000392263 ENTREZGENE
  ENST00000392263.6 UniProtKB/Swiss-Prot
  ENST00000413726 ENTREZGENE
  ENST00000413726.5 UniProtKB/TrEMBL
  ENST00000413726.6 UniProtKB/Swiss-Prot
  ENST00000429881.2 UniProtKB/TrEMBL
  ENST00000432109 ENTREZGENE
  ENST00000432109.6 UniProtKB/Swiss-Prot
  ENST00000437283.5 UniProtKB/TrEMBL
  ENST00000440732 ENTREZGENE
  ENST00000440732.5 UniProtKB/TrEMBL
  ENST00000440732.6 UniProtKB/Swiss-Prot
  ENST00000444430 ENTREZGENE
  ENST00000444430.2 UniProtKB/TrEMBL
  ENST00000444430.3 UniProtKB/Swiss-Prot
  ENST00000447616.5 UniProtKB/TrEMBL
  ENST00000447616.6 UniProtKB/Swiss-Prot
  ENST00000450491 ENTREZGENE
  ENST00000450491.6 UniProtKB/TrEMBL
  ENST00000490682 ENTREZGENE
  ENST00000673742 ENTREZGENE
  ENST00000673742.1 UniProtKB/Swiss-Prot
  ENST00000696067 ENTREZGENE
  ENST00000696067.1 UniProtKB/Swiss-Prot
  ENST00000696068.1 UniProtKB/Swiss-Prot
  ENST00000696069 ENTREZGENE
  ENST00000696069.1 UniProtKB/TrEMBL
  ENST00000696085 ENTREZGENE
  ENST00000696085.1 UniProtKB/TrEMBL
  ENST00000696087 ENTREZGENE
  ENST00000696087.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.533.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.1460 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000064012 GTEx
HGNC ID HGNC:1509 ENTREZGENE
Human Proteome Map CASP8 Human Proteome Map
InterPro Caspase-8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Caspase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Caspase_cys_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Caspase_his_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DEATH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DED_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_C14_caspase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_C14_p10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_C14_p20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_C14A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:841 UniProtKB/Swiss-Prot
NCBI Gene 841 ENTREZGENE
OMIM 601763 OMIM
PANTHER CASP8 AND FADD LIKE APOPTOSIS REGULATOR UniProtKB/TrEMBL
  CASP8 AND FADD-LIKE APOPTOSIS REGULATOR A-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CASPASE 10 UniProtKB/TrEMBL
  DED DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_C14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB CASP8 RGD, PharmGKB
PIRSF Caspase_ICE UniProtKB/TrEMBL
PRINTS IL1BCENZYME UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CASPASE_CYS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CASPASE_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CASPASE_P10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CASPASE_P20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CASc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47986 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52129 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8Q3SI66_HUMAN UniProtKB/TrEMBL
  A0A8Q3SID9 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3WKY8_HUMAN UniProtKB/TrEMBL
  B5BU46 ENTREZGENE, UniProtKB/TrEMBL
  B6CGU5_HUMAN UniProtKB/TrEMBL
  C9JB29 ENTREZGENE, UniProtKB/TrEMBL
  CASP8_HUMAN UniProtKB/Swiss-Prot
  E7EQ01_HUMAN UniProtKB/TrEMBL
  E7EQ06_HUMAN UniProtKB/TrEMBL
  E7ETB7_HUMAN UniProtKB/TrEMBL
  E7EVN1_HUMAN UniProtKB/TrEMBL
  F8WF39_HUMAN UniProtKB/TrEMBL
  H7C0E2_HUMAN UniProtKB/TrEMBL
  K4FGA0_HUMAN UniProtKB/TrEMBL
  O14676 ENTREZGENE
  Q14790 ENTREZGENE
  Q14791 ENTREZGENE
  Q14792 ENTREZGENE
  Q14793 ENTREZGENE
  Q14794 ENTREZGENE
  Q14795 ENTREZGENE
  Q14796 ENTREZGENE
  Q15780 ENTREZGENE
  Q15806 ENTREZGENE
  Q53TT5 ENTREZGENE
  Q6NVI2_HUMAN UniProtKB/TrEMBL
  Q8TDI1 ENTREZGENE
  Q8TDI2 ENTREZGENE
  Q8TDI3 ENTREZGENE
  Q8TDI4 ENTREZGENE
  Q8TDI5 ENTREZGENE
  Q96T22 ENTREZGENE
  Q9C0K4 ENTREZGENE
  Q9UQ81 ENTREZGENE
UniProt Secondary O14676 UniProtKB/Swiss-Prot
  Q14791 UniProtKB/Swiss-Prot
  Q14792 UniProtKB/Swiss-Prot
  Q14793 UniProtKB/Swiss-Prot
  Q14794 UniProtKB/Swiss-Prot
  Q14795 UniProtKB/Swiss-Prot
  Q14796 UniProtKB/Swiss-Prot
  Q15780 UniProtKB/Swiss-Prot
  Q15806 UniProtKB/Swiss-Prot
  Q53TT5 UniProtKB/Swiss-Prot
  Q8TDI1 UniProtKB/Swiss-Prot
  Q8TDI2 UniProtKB/Swiss-Prot
  Q8TDI3 UniProtKB/Swiss-Prot
  Q8TDI4 UniProtKB/Swiss-Prot
  Q8TDI5 UniProtKB/Swiss-Prot
  Q96T22 UniProtKB/Swiss-Prot
  Q9C0K4 UniProtKB/Swiss-Prot
  Q9UQ81 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-05 CASP8  caspase 8  CASP8  caspase 8, apoptosis-related cysteine peptidase  Symbol and/or name change 5135510 APPROVED