ANXA1 (annexin A1) - Rat Genome Database
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Gene: ANXA1 (annexin A1) Homo sapiens
Analyze
Symbol: ANXA1
Name: annexin A1
RGD ID: 730873
HGNC Page HGNC
Description: Exhibits calcium-dependent phospholipid binding activity; calcium-dependent protein binding activity; and phospholipase A2 inhibitor activity. Involved in several processes, including leukocyte chemotaxis; regulation of T cell activation; and regulation of vesicle-mediated transport. Localizes to several cellular components, including cornified envelope; extracellular exosome; and extrinsic component of external side of plasma membrane. Colocalizes with actin filament. Implicated in brain ischemia and pancreatic cancer. Biomarker of several diseases, including astrocytoma; dry eye syndrome; ductal carcinoma in situ; invasive ductal carcinoma; and keratosis (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: annexin I (lipocortin I); annexin-1; ANX1; calpactin II; calpactin-2; chromobindin-9; lipocortin I; LPC1; p35; phospholipase A2 inhibitory protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl973,151,865 - 73,170,393 (+)EnsemblGRCh38hg38GRCh38
GRCh38973,151,865 - 73,170,393 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37975,766,781 - 75,785,309 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37975,766,721 - 75,785,309 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36974,956,601 - 74,975,127 (+)NCBINCBI36hg18NCBI36
Build 34972,996,334 - 73,014,861NCBI
Celera946,339,417 - 46,357,944 (+)NCBI
Cytogenetic Map9q21.13ENTREZGENE
HuRef945,589,147 - 45,607,684 (+)NCBIHuRef
CHM1_1975,913,496 - 75,932,176 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute kidney failure  (ISO)
Animal Mammary Neoplasms  (EXP)
asthma  (ISO)
Blister  (IEP)
brain ischemia  (IDA,ISO)
Breast Neoplasms  (IEP)
carcinoma  (EXP)
cataract  (ISO)
Cerebral Hemorrhage  (ISO)
cerebral infarction  (ISO)
colitis  (ISO)
contact dermatitis  (ISO)
COVID-19  (HEP)
Craniofacial Abnormalities  (EXP)
Delayed Hypersensitivity  (ISO)
Discoid Lupus Erythematosus  (IDA)
dry eye syndrome  (IEP)
ductal carcinoma in situ  (IEP)
encephalitis  (ISO)
esophagus squamous cell carcinoma  (EXP)
Experimental Arthritis  (ISO)
Experimental Autoimmune Encephalomyelitis  (ISO)
Experimental Autoimmune Neuritis  (ISO)
Experimental Diabetes Mellitus  (ISO)
Experimental Liver Cirrhosis  (EXP,ISO)
Hyperalgesia  (ISO)
hypertension  (EXP,ISO)
hyperthyroidism  (ISO)
hypothyroidism  (ISO)
Inflammation  (ISO)
invasive ductal carcinoma  (IEP)
ischemia  (ISO)
keratosis follicularis  (IEP)
kidney disease  (EXP)
Kidney Reperfusion Injury  (ISO)
lung adenocarcinoma  (EXP)
Lymphatic Metastasis  (EXP)
malignant astrocytoma  (IEP)
Mammary Neoplasms, Experimental  (EXP,ISO)
Mouth Neoplasms  (EXP)
Myocardial Reperfusion Injury  (IDA,ISO)
Nasal Polyps  (IEP)
Neoplasm Invasiveness  (EXP)
Neoplasm Metastasis  (EXP,IDA,ISO)
Ocular Toxoplasmosis  (ISO)
pancreatic cancer  (IEP,IMP)
paranasal sinus benign neoplasm  (IEP)
pleurisy  (ISO)
Prostatic Neoplasms  (EXP)
psoriasis  (IEP)
pulmonary fibrosis  (ISO)
renal cell carcinoma  (ISO)
Rhinosinusitis  (IEP)
seborrheic keratosis  (IEP)
Skin Neoplasms  (ISO)
Spinal Cord Injuries  (IDA,ISO)
squamous cell carcinoma  (EXP,IEP)
stomach cancer  (ISO)
stomach disease  (EXP)
transitional cell carcinoma  (ISO)
uveitis  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-lariciresinol  (EXP)
(-)-demecolcine  (EXP)
(-)-lariciresinol  (EXP)
(R)-noradrenaline  (ISO)
(S)-nicotine  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,4-phenylenediamine  (EXP)
1-chloro-2,4-dinitrobenzene  (EXP)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-hydroxypropanoic acid  (EXP)
3-chloropropane-1,2-diol  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-azacytidine  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
9-cis-retinoic acid  (EXP)
acrolein  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-4-oxoretinoic acid  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
aniline  (ISO)
anthracen-2-amine  (ISO)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
ATP  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-naphthoflavone  (ISO)
bilirubin IXalpha  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP)
cadmium sulfate  (EXP)
calcium atom  (ISO)
calcium(0)  (ISO)
carbamazepine  (EXP)
carbon nanotube  (EXP,ISO)
carbonyl sulfide  (ISO)
carrageenan  (ISO)
chloropicrin  (EXP)
choline  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP,ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
cortisol  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP,ISO)
D-penicillamine  (ISO)
DDT  (ISO)
Deoxycorticosterone acetate  (ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP)
diazinon  (ISO)
dibutyl phthalate  (ISO)
dieldrin  (ISO)
diethyldithiocarbamic acid  (ISO)
dioxygen  (EXP)
disodium selenite  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
eurycomanone  (EXP)
fluoxetine  (ISO)
flurbiprofen  (ISO)
fluticasone  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
genistein  (EXP,ISO)
gentamycin  (ISO)
graphite  (EXP)
hexachlorobenzene  (ISO)
hyaluronic acid  (ISO)
hydrogen peroxide  (ISO)
hydroquinone  (EXP)
ibuprofen  (EXP)
iron atom  (ISO)
iron(0)  (ISO)
isoflavones  (ISO)
isoprenaline  (ISO)
ketoconazole  (ISO)
kojic acid  (EXP)
L-ascorbic acid  (EXP,ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
lead(0)  (ISO)
lead(2+)  (ISO)
lead(II) chloride  (EXP)
levofloxacin  (ISO)
lipopolysaccharide  (EXP,ISO)
lithocholic acid  (ISO)
magnesium atom  (ISO)
mercury dibromide  (EXP)
metacetamol  (ISO)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
methylparaben  (EXP)
miconazole  (ISO)
mifepristone  (EXP)
monosodium L-glutamate  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel sulfate  (EXP)
nicotine  (ISO)
ochratoxin A  (ISO)
ouabain  (EXP)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
p-chloromercuribenzoic acid  (EXP)
paclitaxel  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (EXP,ISO)
phenylmercury acetate  (EXP)
PhIP  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
phosgene  (ISO)
potassium chloride  (ISO)
potassium dichromate  (ISO)
Propiverine  (ISO)
prostaglandin E2  (EXP)
quercetin  (EXP,ISO)
quinoline  (EXP)
rac-lactic acid  (EXP)
resveratrol  (ISO)
rimonabant  (ISO)
rofecoxib  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (EXP)
silver(0)  (EXP)
simvastatin  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
tacrolimus hydrate  (ISO)
tanespimycin  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiophenes  (EXP)
titanium dioxide  (ISO)
torcetrapib  (EXP)
triadimefon  (EXP)
trichostatin A  (EXP)
triphenyl phosphate  (ISO)
troglitazone  (ISO)
tungsten  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vincristine  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
actin cytoskeleton reorganization  (IBA,IDA)
adaptive immune response  (IEA)
alpha-beta T cell differentiation  (IBA,ISO,ISS)
arachidonic acid secretion  (IBA,ISO)
cell surface receptor signaling pathway  (IBA,ISO)
cell-cell adhesion  (IEA)
cellular response to glucocorticoid stimulus  (IBA,IDA,ISO)
cellular response to hydrogen peroxide  (IBA,ISO)
cellular response to vascular endothelial growth factor stimulus  (IBA,IDA)
cytokine-mediated signaling pathway  (TAS)
DNA duplex unwinding  (IBA,ISO)
endocrine pancreas development  (IBA,ISO)
estrous cycle  (IBA,ISO)
G protein-coupled receptor signaling pathway  (TAS)
G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger  (IDA,IMP)
gliogenesis  (IBA,ISO)
granulocyte chemotaxis  (IBA,IDA)
hepatocyte differentiation  (IBA,ISO)
inflammatory response  (IBA,ISO,ISS)
innate immune response  (IEA)
insulin secretion  (IBA,ISO)
keratinocyte differentiation  (IBA,IDA)
monocyte chemotaxis  (IDA)
myoblast migration involved in skeletal muscle regeneration  (IBA,ISO)
negative regulation of apoptotic process  (TAS)
negative regulation of catalytic activity  (IEA)
negative regulation of exocytosis  (IBA,IMP)
negative regulation of interleukin-8 production  (IMP)
negative regulation of phospholipase A2 activity  (IBA,ISO)
negative regulation of protein secretion  (IEA,ISO)
negative regulation of T-helper 2 cell differentiation  (IBA,IDA)
neutrophil clearance  (IBA,IMP)
neutrophil homeostasis  (IMP,ISO)
peptide cross-linking  (IDA)
phagocytosis  (ISO,ISS)
positive regulation of apoptotic process  (ISO)
positive regulation of cell migration involved in sprouting angiogenesis  (IBA,IDA)
positive regulation of G1/S transition of mitotic cell cycle  (IBA,ISO)
positive regulation of interleukin-2 production  (IBA,IDA)
positive regulation of neutrophil apoptotic process  (IBA,ISO)
positive regulation of prostaglandin biosynthetic process  (IBA,ISO)
positive regulation of T cell proliferation  (IBA,IDA)
positive regulation of T-helper 1 cell differentiation  (IBA,IDA)
positive regulation of vesicle fusion  (IBA,IDA)
positive regulation of wound healing  (IBA,IDA)
prolactin secretion  (IBA,ISO)
prostate gland development  (IBA,ISO)
regulation of cell population proliferation  (ISO)
regulation of cell shape  (IBA,IDA)
regulation of hormone secretion  (IBA,IMP)
regulation of inflammatory response  (IBA,ISO,ISS)
regulation of interleukin-1 production  (IBA,ISO,ISS)
regulation of leukocyte migration  (IBA,ISO,ISS)
response to corticosteroid  (ISO)
response to drug  (IBA,ISO)
response to estradiol  (IBA,ISO)
response to glucocorticoid  (ISO)
response to hormone  (ISO)
response to interleukin-1  (IBA,ISO)
response to organic cyclic compound  (ISO)
response to peptide hormone  (IBA,ISO)
response to X-ray  (IBA,ISO)
signal transduction  (ISO,TAS)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
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Additional References at PubMed
PMID:1670773   PMID:1832554   PMID:2138016   PMID:2457390   PMID:2532504   PMID:2936963   PMID:2967291   PMID:2969496   PMID:2971450   PMID:3013422   PMID:3303336   PMID:8425544  
PMID:8453382   PMID:8557678   PMID:8587144   PMID:8889549   PMID:8955167   PMID:9459484   PMID:9915835   PMID:10512675   PMID:10882119   PMID:10908733   PMID:11468004   PMID:11574426  
PMID:11759108   PMID:12165536   PMID:12236584   PMID:12477932   PMID:12645011   PMID:12679902   PMID:12689596   PMID:12859969   PMID:14506282   PMID:14633604   PMID:14733945   PMID:15047060  
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PMID:15592455   PMID:15883023   PMID:15944914   PMID:16014420   PMID:16100712   PMID:16130169   PMID:16226712   PMID:16324197   PMID:16460738   PMID:16530434   PMID:16627980   PMID:16675446  
PMID:16741918   PMID:16883066   PMID:16899607   PMID:16949910   PMID:16973129   PMID:16984915   PMID:17008549   PMID:17019707   PMID:17023068   PMID:17081983   PMID:17215481   PMID:17255364  
PMID:17317721   PMID:17340616   PMID:17353931   PMID:17372018   PMID:17626739   PMID:17676665   PMID:17681950   PMID:17873281   PMID:17932043   PMID:17971499   PMID:18029348   PMID:18164291  
PMID:18297688   PMID:18396684   PMID:18566442   PMID:18594025   PMID:18652761   PMID:18663355   PMID:18673418   PMID:18706208   PMID:18767904   PMID:18794547   PMID:18850631   PMID:19056867  
PMID:19076685   PMID:19101730   PMID:19104500   PMID:19190083   PMID:19199708   PMID:19204938   PMID:19208747   PMID:19289595   PMID:19351789   PMID:19394292   PMID:19428102   PMID:19596235  
PMID:19615732   PMID:19625660   PMID:19738201   PMID:19767728   PMID:19850308   PMID:19913121   PMID:20007579   PMID:20025479   PMID:20029029   PMID:20061392   PMID:20163912   PMID:20237496  
PMID:20359522   PMID:20398702   PMID:20558817   PMID:20562859   PMID:20602103   PMID:20628086   PMID:20665809   PMID:20679535   PMID:20713499   PMID:20872967   PMID:20924191   PMID:20930115  
PMID:20962261   PMID:21122411   PMID:21127395   PMID:21132403   PMID:21145461   PMID:21195640   PMID:21254404   PMID:21319273   PMID:21362503   PMID:21365324   PMID:21383699   PMID:21398608  
PMID:21412170   PMID:21420379   PMID:21423176   PMID:21800051   PMID:21836070   PMID:21873635   PMID:21900206   PMID:21903368   PMID:21957127   PMID:22056994   PMID:22116825   PMID:22164217  
PMID:22304920   PMID:22378018   PMID:22586326   PMID:22610094   PMID:22613333   PMID:22623428   PMID:22640735   PMID:22658674   PMID:22664934   PMID:22701020   PMID:22723974   PMID:22736399  
PMID:22773844   PMID:22777765   PMID:22792315   PMID:22898364   PMID:22909323   PMID:22929401   PMID:22939629   PMID:23017499   PMID:23029153   PMID:23154128   PMID:23241962   PMID:23277546  
PMID:23341933   PMID:23376147   PMID:23376485   PMID:23403091   PMID:23413360   PMID:23431236   PMID:23533145   PMID:23580065   PMID:23638088   PMID:23674846   PMID:23727357   PMID:23754495  
PMID:23786757   PMID:23824909   PMID:23958797   PMID:23991102   PMID:24118254   PMID:24130820   PMID:24156336   PMID:24163370   PMID:24189400   PMID:24242295   PMID:24282368   PMID:24300781  
PMID:24366813   PMID:24464914   PMID:24480285   PMID:24525704   PMID:24550385   PMID:24551299   PMID:24591769   PMID:24657165   PMID:24711643   PMID:24719523   PMID:24790181   PMID:24810927  
PMID:24939696   PMID:25028131   PMID:25031270   PMID:25037231   PMID:25038797   PMID:25201101   PMID:25277244   PMID:25300907   PMID:25322804   PMID:25324306   PMID:25337195   PMID:25344217  
PMID:25362540   PMID:25412936   PMID:25416956   PMID:25460034   PMID:25468996   PMID:25490767   PMID:25510623   PMID:25536365   PMID:25592491   PMID:25664854   PMID:25695607   PMID:25854353  
PMID:25866182   PMID:25899628   PMID:25963833   PMID:25983101   PMID:26000884   PMID:26072160   PMID:26135980   PMID:26137966   PMID:26186194   PMID:26312765   PMID:26369530   PMID:26398190  
PMID:26485645   PMID:26496610   PMID:26618866   PMID:26638075   PMID:26641092   PMID:26644413   PMID:26657294   PMID:26687139   PMID:26760764   PMID:26777405   PMID:26803520   PMID:26831064  
PMID:26885535   PMID:27012521   PMID:27035116   PMID:27105503   PMID:27270042   PMID:27342126   PMID:27462432   PMID:27576135   PMID:27584794   PMID:27590054   PMID:27633771   PMID:27802331  
PMID:27834582   PMID:27840982   PMID:27860536   PMID:28009433   PMID:28035369   PMID:28212890   PMID:28289158   PMID:28344315   PMID:28355254   PMID:28514442   PMID:28515276   PMID:28551657  
PMID:28655761   PMID:28675934   PMID:28712289   PMID:28754915   PMID:28963375   PMID:28977470   PMID:29021293   PMID:29091952   PMID:29117863   PMID:29128334   PMID:29254791   PMID:29357787  
PMID:29440885   PMID:29467282   PMID:29507755   PMID:29509190   PMID:29509794   PMID:29544524   PMID:29677533   PMID:29749523   PMID:29932988   PMID:29986379   PMID:30142511   PMID:30249885  
PMID:30286327   PMID:30442662   PMID:30442766   PMID:30459351   PMID:30471916   PMID:30506742   PMID:30518142   PMID:30575818   PMID:30585729   PMID:30614025   PMID:30756482   PMID:30963564  
PMID:30984541   PMID:31010829   PMID:31114582   PMID:31142442   PMID:31180492   PMID:31253590   PMID:31259717   PMID:31331117   PMID:31405213   PMID:31436131   PMID:31462505   PMID:31479167  
PMID:31489406   PMID:31504683   PMID:31536960   PMID:31586073   PMID:31718194   PMID:31730527   PMID:31814858   PMID:31882477   PMID:31980649   PMID:32200378   PMID:32203420   PMID:32296183  
PMID:32416067   PMID:32497150   PMID:32737118   PMID:32814053  


Genomics

Comparative Map Data
ANXA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl973,151,865 - 73,170,393 (+)EnsemblGRCh38hg38GRCh38
GRCh38973,151,865 - 73,170,393 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37975,766,781 - 75,785,309 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37975,766,721 - 75,785,309 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36974,956,601 - 74,975,127 (+)NCBINCBI36hg18NCBI36
Build 34972,996,334 - 73,014,861NCBI
Celera946,339,417 - 46,357,944 (+)NCBI
Cytogenetic Map9q21.13ENTREZGENE
HuRef945,589,147 - 45,607,684 (+)NCBIHuRef
CHM1_1975,913,496 - 75,932,176 (+)NCBICHM1_1
Anxa1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391920,350,798 - 20,368,035 (-)NCBIGRCm39mm39
GRCm381920,373,434 - 20,390,671 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1920,373,428 - 20,390,944 (-)EnsemblGRCm38mm10GRCm38
MGSCv371920,447,924 - 20,465,161 (-)NCBIGRCm37mm9NCBIm37
MGSCv361920,440,455 - 20,457,696 (-)NCBImm8
Celera1921,098,423 - 21,115,607 (-)NCBICelera
Cytogenetic Map19BNCBI
cM Map1913.83NCBI
Anxa1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21217,861,175 - 217,877,205 (-)NCBI
Rnor_6.0 Ensembl1237,893,966 - 237,910,012 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01237,893,983 - 237,910,002 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01245,192,875 - 245,220,057 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41223,478,436 - 223,494,455 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11223,642,460 - 223,658,478 (-)NCBI
Celera1215,138,950 - 215,154,969 (-)NCBICelera
Cytogenetic Map1q51NCBI
Anxa1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555125,686,508 - 5,703,645 (-)NCBIChiLan1.0ChiLan1.0
ANXA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1971,930,148 - 71,948,779 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl971,929,728 - 71,948,779 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0951,647,404 - 51,665,990 (-)NCBIMhudiblu_PPA_v0panPan3
ANXA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl184,744,163 - 84,763,011 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1184,744,159 - 84,763,011 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Anxa1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365039,124,314 - 9,142,372 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ANXA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1226,414,307 - 226,432,287 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11226,414,200 - 226,431,963 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21252,989,694 - 253,007,485 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ANXA1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11284,207,818 - 84,226,438 (+)NCBI
ChlSab1.1 Ensembl1284,207,820 - 84,226,562 (+)Ensembl
Anxa1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624811765,338 - 782,203 (+)NCBI

Position Markers
SHGC-13051  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37975,768,809 - 75,768,900UniSTSGRCh37
Build 36974,958,629 - 74,958,720RGDNCBI36
Celera946,341,445 - 46,341,536RGD
Cytogenetic Map9q21.13UniSTS
HuRef945,591,175 - 45,591,266UniSTS
RH68409  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37975,780,971 - 75,781,135UniSTSGRCh37
Build 36974,970,791 - 74,970,955RGDNCBI36
Celera946,353,608 - 46,353,772RGD
Cytogenetic Map9q21.13UniSTS
HuRef945,603,338 - 45,603,502UniSTS
GeneMap99-GB4 RH Map9252.75UniSTS
NCBI RH Map9658.3UniSTS
A009X30  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37975,780,194 - 75,780,314UniSTSGRCh37
Build 36974,970,014 - 74,970,134RGDNCBI36
Celera946,352,831 - 46,352,951RGD
Cytogenetic Map9q21.13UniSTS
HuRef945,602,561 - 45,602,681UniSTS
GeneMap99-GB4 RH Map9252.75UniSTS
NCBI RH Map9658.3UniSTS
SHGC-12349  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37975,785,027 - 75,785,304UniSTSGRCh37
Build 36974,974,847 - 74,975,124RGDNCBI36
Celera946,357,664 - 46,357,941RGD
Cytogenetic Map9q21.13UniSTS
HuRef945,607,404 - 45,607,681UniSTS
TNG Radiation Hybrid Map925118.0UniSTS
Stanford-G3 RH Map92103.0UniSTS
GeneMap99-GB4 RH Map9254.57UniSTS
Whitehead-RH Map9287.6UniSTS
NCBI RH Map9658.3UniSTS
GeneMap99-G3 RH Map92058.0UniSTS
STS-H67867  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37975,780,251 - 75,780,390UniSTSGRCh37
Build 36974,970,071 - 74,970,210RGDNCBI36
Celera946,352,888 - 46,353,027RGD
Cytogenetic Map9q21.13UniSTS
HuRef945,602,618 - 45,602,757UniSTS
GeneMap99-GB4 RH Map9252.75UniSTS
NCBI RH Map9658.3UniSTS
STS-U25414  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37975,766,757 - 75,766,933UniSTSGRCh37
Build 36974,956,577 - 74,956,753RGDNCBI36
Celera946,339,393 - 46,339,569RGD
Cytogenetic Map9q21.13UniSTS
HuRef945,589,123 - 45,589,299UniSTS
GeneMap99-GB4 RH Map9252.75UniSTS
NCBI RH Map9658.3UniSTS
ANXA1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37975,773,452 - 75,774,274UniSTSGRCh37
Celera946,346,089 - 46,346,911UniSTS
HuRef945,595,819 - 45,596,641UniSTS
G32952  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37975,780,194 - 75,780,314UniSTSGRCh37
Celera946,352,831 - 46,352,951UniSTS
Cytogenetic Map9q21.13UniSTS
HuRef945,602,561 - 45,602,681UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR196A1hsa-miR-196a-5pOncomiRDBexternal_infoNANA18663355
MIR196A1hsa-miR-196a-5pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blot//Functional MTI18663355
MIR196A2hsa-miR-196a-5pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blot//Functional MTI18663355
MIR196A2hsa-miR-196a-5pOncomiRDBexternal_infoNANA18663355

Predicted Target Of
Summary Value
Count of predictions:836
Count of miRNA genes:577
Interacting mature miRNAs:625
Transcripts:ENST00000257497, ENST00000376911, ENST00000415424, ENST00000456643, ENST00000468639, ENST00000489109, ENST00000491192, ENST00000495713
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 6 2 17 31 4 3 6 4 2 1 101 32 31 12
Medium 2344 2887 1383 294 1447 164 3814 1700 1526 379 1026 1512 140 1192 2398 3
Low 81 97 322 296 404 295 534 490 2169 39 328 33 3 1 390 3 1
Below cutoff 4 2 2 55 1 2 1 21 4 29 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_000700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA039737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX004164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR407684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX870105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU997628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U25414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X05908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000257497   ⟹   ENSP00000257497
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl973,151,865 - 73,170,393 (+)Ensembl
RefSeq Acc Id: ENST00000376911   ⟹   ENSP00000366109
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl973,157,654 - 73,170,393 (+)Ensembl
RefSeq Acc Id: ENST00000415424   ⟹   ENSP00000414013
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl973,151,902 - 73,160,338 (+)Ensembl
RefSeq Acc Id: ENST00000456643   ⟹   ENSP00000412489
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl973,151,865 - 73,163,500 (+)Ensembl
RefSeq Acc Id: ENST00000468639
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl973,151,865 - 73,159,879 (+)Ensembl
RefSeq Acc Id: ENST00000489109
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl973,160,285 - 73,165,544 (+)Ensembl
RefSeq Acc Id: ENST00000491192
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl973,168,098 - 73,170,393 (+)Ensembl
RefSeq Acc Id: ENST00000495713
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl973,160,263 - 73,167,869 (+)Ensembl
RefSeq Acc Id: NM_000700   ⟹   NP_000691
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38973,151,865 - 73,170,393 (+)NCBI
GRCh37975,766,721 - 75,785,309 (+)NCBI
Build 36974,956,601 - 74,975,127 (+)NCBI Archive
HuRef945,589,147 - 45,607,684 (+)ENTREZGENE
CHM1_1975,913,496 - 75,932,176 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011518609   ⟹   XP_011516911
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38973,154,461 - 73,170,393 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017014657   ⟹   XP_016870146
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38973,154,203 - 73,170,393 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000691   ⟸   NM_000700
- UniProtKB: P04083 (UniProtKB/Swiss-Prot),   Q5TZZ9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011516911   ⟸   XM_011518609
- Peptide Label: isoform X2
- UniProtKB: P04083 (UniProtKB/Swiss-Prot),   Q5TZZ9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016870146   ⟸   XM_017014657
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000257497   ⟸   ENST00000257497
RefSeq Acc Id: ENSP00000414013   ⟸   ENST00000415424
RefSeq Acc Id: ENSP00000366109   ⟸   ENST00000376911
RefSeq Acc Id: ENSP00000412489   ⟸   ENST00000456643

Promoters
RGD ID:7215271
Promoter ID:EPDNEW_H13376
Type:initiation region
Name:ANXA1_1
Description:annexin A1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38973,151,865 - 73,151,925EPDNEW
RGD ID:6807238
Promoter ID:HG_KWN:63673
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000052664,   OTTHUMT00000052666,   OTTHUMT00000052667,   OTTHUMT00000052668,   UC004AJE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36974,956,369 - 74,956,869 (+)MPROMDB
RGD ID:6851464
Promoter ID:EP73533
Type:multiple initiation site
Name:HS_ANXA1
Description:Annexin A1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36974,956,601 - 74,956,661EPD
RGD ID:6807530
Promoter ID:HG_KWN:63674
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:ENST00000376912
Position:
Human AssemblyChrPosition (strand)Source
Build 36974,958,781 - 74,959,382 (+)MPROMDB
RGD ID:6807239
Promoter ID:HG_KWN:63675
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:ENST00000376911
Position:
Human AssemblyChrPosition (strand)Source
Build 36974,962,594 - 74,963,094 (+)MPROMDB
RGD ID:6807240
Promoter ID:HG_KWN:63676
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:OTTHUMT00000052669,   OTTHUMT00000052670
Position:
Human AssemblyChrPosition (strand)Source
Build 36974,964,256 - 74,964,982 (+)MPROMDB
RGD ID:6807237
Promoter ID:HG_KWN:63677
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:OTTHUMT00000052663
Position:
Human AssemblyChrPosition (strand)Source
Build 36974,972,206 - 74,973,457 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q21.13-21.2(chr9:72224348-77332127)x1 copy number loss See cases [RCV000052906] Chr9:72224348..77332127 [GRCh38]
Chr9:74839264..79947043 [GRCh37]
Chr9:74029084..79136863 [NCBI36]
Chr9:9q21.13-21.2
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_000700.2(ANXA1):c.370C>T (p.Arg124Cys) single nucleotide variant Malignant melanoma [RCV000068694] Chr9:73160362 [GRCh38]
Chr9:75775278 [GRCh37]
Chr9:74965098 [NCBI36]
Chr9:9q21.13
not provided
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1 copy number loss See cases [RCV000133632] Chr9:68454847..76252863 [GRCh38]
Chr9:71130848..78867779 [GRCh37]
Chr9:70259583..78057599 [NCBI36]
Chr9:9q21.11-21.13
pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13
pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2
pathogenic
GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1 copy number loss See cases [RCV000137963] Chr9:68499530..83670227 [GRCh38]
Chr9:71130848..86285142 [GRCh37]
Chr9:70304266..85474962 [NCBI36]
Chr9:9q21.11-21.32
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3
pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q21.11-21.13(chr9:71079379-75905808)x1 copy number loss See cases [RCV000511817] Chr9:71079379..75905808 [GRCh37]
Chr9:9q21.11-21.13
likely pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3 copy number gain See cases [RCV000510725] Chr9:68734571..83557267 [GRCh37]
Chr9:9q21.11-21.31
pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3
likely pathogenic
GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4 copy number gain See cases [RCV000512280] Chr9:70966262..90761254 [GRCh37]
Chr9:9q21.11-22.1
pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1 copy number loss not provided [RCV000683169] Chr9:68999534..84656998 [GRCh37]
Chr9:9q21.11-21.32
pathogenic
GRCh37/hg19 9q21.13-21.31(chr9:74534790-84014155)x1 copy number loss not provided [RCV000683165] Chr9:74534790..84014155 [GRCh37]
Chr9:9q21.13-21.31
pathogenic
GRCh37/hg19 9q21.13(chr9:75519250-76155313)x3 copy number gain not provided [RCV000683136] Chr9:75519250..76155313 [GRCh37]
Chr9:9q21.13
uncertain significance
NM_000700.3(ANXA1):c.205_208CTAA[1] (p.Thr70fs) microsatellite not provided [RCV000714751] Chr9:73159358..73159361 [GRCh38]
Chr9:75774274..75774277 [GRCh37]
Chr9:9q21.13
uncertain significance
GRCh37/hg19 9q21.11-21.31(chr9:68838523-83340723)x1 copy number loss not provided [RCV000748447] Chr9:68838523..83340723 [GRCh37]
Chr9:9q21.11-21.31
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33
likely pathogenic
NM_000700.3(ANXA1):c.612+3A>G single nucleotide variant not provided [RCV000947178] Chr9:73163535 [GRCh38]
Chr9:75778451 [GRCh37]
Chr9:9q21.13
benign
NM_000700.3(ANXA1):c.105G>T (p.Ala35=) single nucleotide variant not provided [RCV000966378] Chr9:73158733 [GRCh38]
Chr9:75773649 [GRCh37]
Chr9:9q21.13
benign
NM_000700.3(ANXA1):c.271-4G>T single nucleotide variant not provided [RCV000954697] Chr9:73160259 [GRCh38]
Chr9:75775175 [GRCh37]
Chr9:9q21.13
likely benign
NM_000700.3(ANXA1):c.613-5G>T single nucleotide variant not provided [RCV000925509] Chr9:73165111 [GRCh38]
Chr9:75780027 [GRCh37]
Chr9:9q21.13
likely benign
NM_000700.3(ANXA1):c.636G>A (p.Arg212=) single nucleotide variant not provided [RCV000954447] Chr9:73165139 [GRCh38]
Chr9:75780055 [GRCh37]
Chr9:9q21.13
benign
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q21.13(chr9:75591957-75983950)x3 copy number gain not provided [RCV000847880] Chr9:75591957..75983950 [GRCh37]
Chr9:9q21.13
uncertain significance
GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1 copy number loss not provided [RCV000846367] Chr9:70974661..81829792 [GRCh37]
Chr9:9q21.11-21.31
pathogenic
NM_000700.3(ANXA1):c.861+10A>G single nucleotide variant not provided [RCV000914547] Chr9:73167565 [GRCh38]
Chr9:75782481 [GRCh37]
Chr9:9q21.13
likely benign
GRCh37/hg19 9q21.13(chr9:75695874-76020754)x3 copy number gain not provided [RCV001006240] Chr9:75695874..76020754 [GRCh37]
Chr9:9q21.13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:533 AgrOrtholog
COSMIC ANXA1 COSMIC
Ensembl Genes ENSG00000135046 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000257497 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000366109 UniProtKB/Swiss-Prot
  ENSP00000412489 UniProtKB/TrEMBL
  ENSP00000414013 UniProtKB/TrEMBL
Ensembl Transcript ENST00000257497 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000376911 UniProtKB/Swiss-Prot
  ENST00000415424 UniProtKB/TrEMBL
  ENST00000456643 UniProtKB/TrEMBL
Gene3D-CATH 1.10.220.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000135046 GTEx
HGNC ID HGNC:533 ENTREZGENE
Human Proteome Map ANXA1 Human Proteome Map
InterPro Annexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Annexin_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Annexin_repeat_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Annexin_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANX1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:301 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 301 ENTREZGENE
OMIM 151690 OMIM
PANTHER PTHR10502:SF17 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Annexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24823 PharmGKB
PRINTS ANNEXIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANNEXINI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ANNEXIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANNEXIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47874 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ANXA1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q05BR2_HUMAN UniProtKB/TrEMBL
  Q5T3N0_HUMAN UniProtKB/TrEMBL
  Q5T3N1_HUMAN UniProtKB/TrEMBL
  Q5TZZ9 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B5BU38 UniProtKB/Swiss-Prot