TIMP1 (TIMP metallopeptidase inhibitor 1) - Rat Genome Database

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Gene: TIMP1 (TIMP metallopeptidase inhibitor 1) Homo sapiens
Analyze
Symbol: TIMP1
Name: TIMP metallopeptidase inhibitor 1
RGD ID: 1347215
HGNC Page HGNC
Description: Exhibits cytokine activity; metalloendopeptidase inhibitor activity; and zinc ion binding activity. Involved in several processes, including cellular response to UV-A; negative regulation of proteolysis; and negative regulation of trophoblast cell migration. Localizes to extracellular space. Biomarker of several diseases, including CAKUT2; Down syndrome; artery disease (multiple); carcinoma (multiple); and diabetes mellitus (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CLGI; collagenase inhibitor; EPA; EPO; erythroid potentiating activity; erythroid-potentiating activity; fibroblast collagenase inhibitor; FLJ90373; HCI; metalloproteinase inhibitor 1; TIMP; TIMP-1; tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity, collagenase inhibitor); tissue inhibitor of metalloproteinases 1
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 EnsemblX47,582,408 - 47,586,789 (+)EnsemblGRCh38hg38GRCh38
GRCh38X47,582,408 - 47,586,789 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X47,441,835 - 47,446,188 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X47,326,634 - 47,331,134 (+)NCBINCBI36hg18NCBI36
Build 34X47,198,084 - 47,202,441NCBI
CeleraX51,636,947 - 51,641,447 (+)NCBI
Cytogenetic MapXp11.3NCBI
HuRefX45,154,211 - 45,158,632 (+)NCBIHuRef
CHM1_1X47,472,792 - 47,477,292 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
adrenoleukodystrophy  (IEP)
adult respiratory distress syndrome  (EXP)
alcoholic liver cirrhosis  (EXP)
Animal Disease Models  (EXP)
aortic valve insufficiency  (EXP)
autistic disorder  (IAGP)
autoimmune disease  (EXP)
Brain Injuries  (ISO)
breast cancer  (IEP)
CAKUT2  (IEP)
calcinosis  (EXP)
cholangitis  (EXP)
cholestasis  (ISO)
chronic obstructive pulmonary disease  (ISO)
congestive heart failure  (ISO)
COVID-19  (HEP)
cystic fibrosis  (IEP)
degenerative disc disease  (ISO)
diabetes mellitus  (IEP)
Down syndrome  (IEP)
Emphysema  (ISO)
endometrial carcinoma  (IEP)
Experimental Diabetes Mellitus  (EXP,IMP,ISO)
Experimental Liver Cirrhosis  (EXP,ISO)
extrahepatic cholestasis  (EXP)
Female Urogenital Diseases  (EXP)
gastric ulcer  (ISO)
heart disease  (EXP,ISO)
heart valve disease  (EXP)
hyperhomocysteinemia  (ISO)
Hyperoxia  (ISO)
hypertension  (EXP,IEP,ISO)
IgA glomerulonephritis  (EXP)
Inflammation  (EXP)
intracranial aneurysm  (ISO)
Kawasaki disease  (IEP)
Lymphatic Metastasis  (IEP)
Neoplasm Invasiveness  (EXP)
Neoplasm Metastasis  (IEP)
obesity  (IEP)
oral submucous fibrosis  (EXP)
ovarian cancer  (IEP)
pre-eclampsia  (IEP)
preretinal fibrosis  (IEP)
pulmonary fibrosis  (EXP,ISO)
relapsing-remitting multiple sclerosis  (IEP)
renal cell carcinoma  (IEP)
Stroke  (ISO)
syndromic X-linked intellectual disability Lubs type  (IAGP)
thoracic aortic aneurysm  (IEP)
transitional cell carcinoma  (IEP)
type 1 diabetes mellitus  (IEP)
type 2 diabetes mellitus  (EXP,IEP)
varicose veins  (EXP)
vascular disease  (EXP,ISO)
Wilson disease  (EXP)
Wounds and Injuries  (ISO)
X-linked epilepsy with variable learning disabilities and behavior disorders  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
(-)-epigallocatechin 3-gallate  (ISO)
(2R,4R)-1-[(2S)-5-(diaminomethylideneamino)-2-[(3-methyl-1,2,3,4-tetrahydroquinolin-8-yl)sulfonylamino]-1-oxopentyl]-4-methyl-2-piperidinecarboxylic acid  (ISO)
(R)-carnitine  (ISO)
(S)-colchicine  (ISO)
(S)-nicotine  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,1-dichloroethene  (ISO)
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3,5-trinitro-1,3,5-triazinane  (ISO)
1-chloro-2,4-dinitrobenzene  (ISO)
1-naphthyl isothiocyanate  (ISO)
1-octadec-9-enoylglycero-3-phosphate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2,2-trichloroethanol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3-dimethoxynaphthalene-1,4-dione  (EXP)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (EXP,ISO)
2-acetamidofluorene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-butoxyethanol  (ISO)
2-hydroxypropanoic acid  (EXP)
2-nitrofluorene  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,3'-diindolylmethane  (EXP)
3,4-dichloroaniline  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
3-methylcholanthrene  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-hydroxynon-2-enal  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
5-(1,4-diazepane-1-sulfonyl)isoquinoline  (ISO)
5-azacytidine  (EXP)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP,ISO)
aflatoxin B1  (EXP,ISO)
AICA ribonucleotide  (EXP)
alachlor  (ISO)
aldehydo-D-glucosamine  (ISO)
aldehydo-D-glucose  (EXP)
alendronic acid  (ISO)
all-trans-retinoic acid  (EXP,ISO)
allyl alcohol  (ISO)
AM-251  (EXP)
aminoguanidine  (ISO)
ammonium chloride  (ISO)
Ammothamnine  (ISO)
amphotericin B methyl ester  (ISO)
ampicillin  (EXP)
anandamide  (EXP)
andrographolide  (ISO)
anethole  (EXP)
anthocyanin  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
antirheumatic drug  (EXP)
arachidonic acid  (ISO)
Arecaidine  (EXP)
arecoline  (EXP)
Arg-Gly-Asp  (EXP)
argatroban  (ISO)
arsenic acid  (ISO)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
artesunate  (EXP)
ATP  (ISO)
Aurothioglucose  (ISO)
Azaspiracid  (ISO)
azathioprine  (EXP)
azetidine  (ISO)
bacitracin  (ISO)
beclomethasone  (EXP)
benazepril  (ISO)
benomyl  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
Benzo[k]fluoranthene  (EXP)
beta-D-glucosamine  (ISO)
beta-naphthoflavone  (ISO)
betulin  (ISO)
betulinic acid  (ISO)
bezafibrate  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol A diglycidyl ether  (ISO)
bisphenol F  (ISO)
bleomycin A2  (ISO)
bromobenzene  (ISO)
budesonide  (ISO)
Butylbenzyl phthalate  (ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
cadmium sulfate  (ISO)
calcium dichloride  (ISO)
cannabidiol  (EXP)
capsaicin  (EXP,ISO)
capsazepine  (EXP)
carbendazim  (EXP)
carbofuran  (ISO)
carbon nanotube  (ISO)
carfilzomib  (ISO)
carvedilol  (ISO)
cefaloridine  (ISO)
chenodeoxycholic acid  (ISO)
chlordecone  (ISO)
chloroform  (ISO)
chloropicrin  (EXP)
chloroquine  (EXP,ISO)
choline  (ISO)
chromium atom  (EXP)
chromium(6+)  (ISO)
chrysene  (EXP)
cisplatin  (EXP,ISO)
clodronic acid  (ISO)
cobalt atom  (EXP)
colforsin daropate hydrochloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP,ISO)
cucurbitacin E  (ISO)
curcumin  (EXP,ISO)
cyanuric acid  (ISO)
cycloheximide  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP,ISO)
cylindrospermopsin  (EXP)
cystamine  (ISO)
cytarabine  (EXP)
D-glucose  (EXP)
Deguelin  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diallyl disulfide  (EXP)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (EXP)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
diclofenac  (ISO)
diethyl phthalate  (ISO)
diethylstilbestrol  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (EXP,ISO)
diltiazem  (ISO)
dioxygen  (ISO)
diuron  (EXP,ISO)
dopamine  (ISO)
doxorubicin  (EXP,ISO)
ebselen  (ISO)
edaravone  (ISO)
elemental selenium  (EXP,ISO)
erythromycin estolate  (ISO)
ethanol  (ISO)
fasudil hydrochloride  (ISO)
fenhexamid  (EXP)
fenofibrate  (ISO)
fenoldopam  (ISO)
ferric oxide  (ISO)
Fexofenadine hydrochloride  (EXP)
flavonoids  (ISO)
fluoxetine  (ISO)
flurbiprofen  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
fosinopril  (ISO)
fucoidan  (EXP)
furan  (ISO)
gadodiamide hydrate  (EXP,ISO)
gallic acid  (ISO)
genistein  (EXP,ISO)
gentamycin  (ISO)
glafenine  (ISO)
glucose  (EXP)
Gly-His-Lys  (ISO)
graphene oxide  (ISO)
graphite  (ISO)
herbimycin  (EXP)
Hexachloro-1,3-butadiene  (ISO)
hexachlorobenzene  (ISO)
hexadecanoic acid  (EXP)
homocysteine  (ISO)
Honokiol  (ISO)
hydrogen peroxide  (ISO)
ilomastat  (ISO)
imiquimod  (ISO)
Indeno[1,2,3-cd]pyrene  (EXP,ISO)
indometacin  (EXP)
iron(2+) sulfate (anhydrous)  (ISO)
iron(III) nitrilotriacetate  (ISO)
isocyanuric acid  (ISO)
isoprenaline  (EXP,ISO)
juglone  (EXP)
ketoconazole  (ISO)
L-ascorbic acid  (EXP,ISO)
L-cysteine  (ISO)
L-methionine  (ISO)
lamivudine  (EXP)
lipopolysaccharide  (EXP,ISO)
lisinopril dihydrate  (ISO)
lithocholic acid  (ISO)
lornoxicam  (ISO)
losartan  (ISO)
LY294002  (EXP)
Meclizine  (EXP)
megestrol  (EXP)
melamine  (ISO)
mercury dichloride  (ISO)
metaproterenol  (ISO)
methamphetamine  (ISO)
Methanandamide  (EXP)
methapyrilene  (ISO)
Methazolamide  (EXP)
methylmercury chloride  (EXP,ISO)
methylparaben  (EXP)
mifepristone  (ISO)
milrinone  (ISO)
mitoxantrone  (ISO)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
monocrotaline  (ISO)
monodansylcadaverine  (ISO)
N-(3-methyl-5-sulfamoyl-1,3,4-thiadiazol-2-ylidene)acetamide  (EXP)
N-acetyl-1,4-benzoquinone imine  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (EXP,ISO)
N-nitrosodimethylamine  (EXP,ISO)
N-nitrosomorpholine  (ISO)
naloxone  (ISO)
naphthalene  (EXP,ISO)
naproxen  (ISO)
naringin  (ISO)
Natamycin  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP,ISO)
nicotine  (EXP)
nimodipine  (ISO)
NS-398  (EXP)
nystatin  (ISO)
obeticholic acid  (EXP,ISO)
ochratoxin A  (ISO)
oleanolic acid  (ISO)
oleic acid  (EXP)
orciprenaline  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
p-menthan-3-ol  (ISO)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
pentane-2,3-dione  (ISO)
Pentoxifylline  (ISO)
perfluorooctanoic acid  (ISO)
phenanthrene  (EXP)
phenobarbital  (ISO)
phenylephrine  (ISO)
phenytoin  (EXP)
PhIP  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
phosgene  (ISO)
phosphatidylcholine  (ISO)
phosphocholine  (EXP)
phosphorylcholine chloride  (EXP)
phthalaldehyde  (ISO)
pioglitazone  (ISO)
piperonyl butoxide  (ISO)
pirfenidone  (ISO)
pirinixic acid  (ISO)
poly(I:C)  (ISO)
potassium dichromate  (ISO)
pravastatin  (ISO)
prednisolone  (ISO)
progesterone  (EXP)
prostaglandin E1  (ISO)
prostaglandin E2  (EXP,ISO)
prostaglandin F2alpha  (EXP)
puerarin  (ISO)
pyrrolidine dithiocarbamate  (ISO)
quartz  (EXP)
quercetin  (EXP,ISO)
quercetin 3-O-beta-D-glucofuranoside  (EXP)
quercetin 3-O-beta-D-glucopyranoside  (EXP)
quinidine  (ISO)
rac-lactic acid  (EXP)
raloxifene  (EXP,ISO)
razoxane  (ISO)
resveratrol  (EXP,ISO)
rimonabant  (ISO)
rotenone  (EXP)
SB 203580  (EXP)
selenium atom  (EXP,ISO)
serpentine asbestos  (ISO)
silibinin  (ISO)
silicon dioxide  (EXP,ISO)
simvastatin  (ISO)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
solasodine  (EXP)
streptozocin  (ISO)
sulfasalazine  (ISO)
sulforaphane  (EXP)
sulindac  (EXP)
sumatriptan  (ISO)
sunitinib  (EXP,ISO)
T-2 toxin  (EXP,ISO)
tacrolimus hydrate  (ISO)
tamibarotene  (EXP)
tebuconazole  (EXP)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
tetramethylpyrazine  (ISO)
tetraphene  (EXP)
thalidomide  (ISO)
theophylline  (ISO)
thioacetamide  (ISO)
thymoquinone  (EXP,ISO)
titanium atom  (EXP)
titanium dioxide  (ISO)
toluene 2,4-diisocyanate  (EXP,ISO)
tomatidine  (EXP)
topotecan  (ISO)
tranexamic acid  (ISO)
trans-anethole  (EXP)
trans-rhaponticin  (ISO)
tremolite asbestos  (ISO)
triclosan  (EXP)
trimellitic anhydride  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (EXP)
undecane  (ISO)
urethane  (EXP)
ursolic acid  (ISO)
valproic acid  (EXP)
valsartan  (EXP,ISO)
vanadium atom  (EXP)
vanadium(0)  (EXP)
vancomycin  (ISO)
verapamil  (EXP,ISO)
vildagliptin  (ISO)
vincaleukoblastine  (ISO)
vinclozolin  (ISO)
vincristine  (EXP,ISO)
vitamin E  (EXP,ISO)
XL147  (ISO)
Yessotoxin  (ISO)
zinc protoporphyrin  (EXP,ISO)
zoledronic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

Human Phenotype
Schizophrenia  (IAGP)
References

References - curated
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19. Iulita MF, etal., Brain. 2014 Mar;137(Pt 3):860-72. doi: 10.1093/brain/awt372. Epub 2014 Feb 11.
20. Jaworski DM Glia. 2000 Apr;30(2):199-208.
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35. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
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37. Reis ST, etal., BMC Urol. 2016 Jul 23;16(1):44. doi: 10.1186/s12894-016-0162-6.
38. RGD automated import pipeline for gene-chemical interactions
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45. Suryadevara R, etal., Glia. 2003 Oct;44(1):47-56.
46. Taghavi S, etal., Am J Transplant. 2005 Jun;5(6):1548-52.
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55. Wu ZS, etal., Int J Cancer. 2008 May 1;122(9):2050-6.
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63. Zureik M, etal., J Hypertens. 2005 Dec;23(12):2263-8.
Additional References at PubMed
PMID:1420137   PMID:1653055   PMID:1730286   PMID:2163605   PMID:2171551   PMID:2251898   PMID:2921031   PMID:3010309   PMID:3460333   PMID:3688834   PMID:3839290   PMID:3903517  
PMID:7507419   PMID:8757599   PMID:8804434   PMID:9063449   PMID:9286280   PMID:9288970   PMID:9573338   PMID:9778693   PMID:10071915   PMID:10233411   PMID:10441576   PMID:10623524  
PMID:11279011   PMID:11598182   PMID:11606052   PMID:11705862   PMID:11762702   PMID:11796725   PMID:11935340   PMID:11940298   PMID:12032189   PMID:12034345   PMID:12063180   PMID:12081564  
PMID:12082592   PMID:12147251   PMID:12150976   PMID:12376362   PMID:12406369   PMID:12452001   PMID:12475252   PMID:12477932   PMID:12479097   PMID:12496489   PMID:12538453   PMID:12612199  
PMID:12620441   PMID:12634064   PMID:12651627   PMID:12704667   PMID:12714508   PMID:12717827   PMID:12771930   PMID:12791318   PMID:12834347   PMID:12846741   PMID:12861139   PMID:12869573  
PMID:12873541   PMID:12904305   PMID:12921631   PMID:12970724   PMID:14517716   PMID:14622947   PMID:14630798   PMID:14648584   PMID:14652000   PMID:14661256   PMID:14688084   PMID:14710472  
PMID:14734567   PMID:14871825   PMID:14962256   PMID:14973177   PMID:14983226   PMID:15028476   PMID:15051730   PMID:15161657   PMID:15225209   PMID:15248826   PMID:15277439   PMID:15313474  
PMID:15340161   PMID:15363817   PMID:15465038   PMID:15479729   PMID:15485866   PMID:15489334   PMID:15494493   PMID:15515157   PMID:15516987   PMID:15530852   PMID:15557756   PMID:15754388  
PMID:15818737   PMID:15841325   PMID:15890357   PMID:15896974   PMID:16019435   PMID:16061701   PMID:16100012   PMID:16107690   PMID:16135528   PMID:16169070   PMID:16188099   PMID:16191301  
PMID:16219294   PMID:16248458   PMID:16263699   PMID:16280123   PMID:16288711   PMID:16289162   PMID:16303743   PMID:16335952   PMID:16407831   PMID:16410344   PMID:16474379   PMID:16496359  
PMID:16555295   PMID:16615041   PMID:16631927   PMID:16740002   PMID:16754484   PMID:16767366   PMID:16772717   PMID:16786122   PMID:16840178   PMID:16864898   PMID:16877361   PMID:16880228  
PMID:16917503   PMID:16931892   PMID:16935611   PMID:16940985   PMID:16960901   PMID:16996520   PMID:17008230   PMID:17009408   PMID:17012236   PMID:17045024   PMID:17050530   PMID:17071711  
PMID:17072372   PMID:17136882   PMID:17162914   PMID:17182940   PMID:17202148   PMID:17205957   PMID:17209789   PMID:17222415   PMID:17226791   PMID:17299802   PMID:17301822   PMID:17340613  
PMID:17350093   PMID:17380436   PMID:17409012   PMID:17456311   PMID:17489740   PMID:17493602   PMID:17543340   PMID:17549663   PMID:17564313   PMID:17572998   PMID:17589947   PMID:17634538  
PMID:17660250   PMID:17703334   PMID:17726014   PMID:17763191   PMID:17786346   PMID:17878270   PMID:17893005   PMID:17899257   PMID:17920311   PMID:17928006   PMID:17998244   PMID:18025061  
PMID:18034264   PMID:18042068   PMID:18049028   PMID:18063811   PMID:18159069   PMID:18214300   PMID:18217401   PMID:18236174   PMID:18273688   PMID:18291374   PMID:18292822   PMID:18298349  
PMID:18385523   PMID:18391843   PMID:18395263   PMID:18474748   PMID:18477480   PMID:18487063   PMID:18502033   PMID:18630499   PMID:18634035   PMID:18636124   PMID:18645261   PMID:18683786  
PMID:18692810   PMID:18704317   PMID:18787947   PMID:18850474   PMID:18854176   PMID:18945772   PMID:18984437   PMID:19012952   PMID:19019896   PMID:19020757   PMID:19036126   PMID:19134356  
PMID:19141395   PMID:19246282   PMID:19288452   PMID:19331801   PMID:19336475   PMID:19358835   PMID:19383295   PMID:19383343   PMID:19383344   PMID:19387352   PMID:19390929   PMID:19430729  
PMID:19464975   PMID:19513566   PMID:19524176   PMID:19551542   PMID:19560452   PMID:19596921   PMID:19608737   PMID:19609944   PMID:19629003   PMID:19637058   PMID:19653096   PMID:19717938  
PMID:19723139   PMID:19723899   PMID:19728856   PMID:19747478   PMID:19758569   PMID:19766963   PMID:19781774   PMID:19796534   PMID:19814619   PMID:19863693   PMID:19875168   PMID:19887890  
PMID:19889076   PMID:19904223   PMID:19911067   PMID:19913121   PMID:19927649   PMID:20021931   PMID:20030715   PMID:20039537   PMID:20041335   PMID:20051489   PMID:20095885   PMID:20111696  
PMID:20164040   PMID:20193458   PMID:20215736   PMID:20298300   PMID:20305574   PMID:20361393   PMID:20371206   PMID:20388222   PMID:20423842   PMID:20450704   PMID:20452482   PMID:20459644  
PMID:20484597   PMID:20514432   PMID:20533294   PMID:20545111   PMID:20545310   PMID:20556397   PMID:20584750   PMID:20587546   PMID:20595097   PMID:20616161   PMID:20628086   PMID:20628624  
PMID:20646231   PMID:20654099   PMID:20655547   PMID:20673868   PMID:20685094   PMID:20707923   PMID:20798956   PMID:20838751   PMID:20853162   PMID:20854182   PMID:20889295   PMID:20921293  
PMID:20979576   PMID:21041986   PMID:21086628   PMID:21094936   PMID:21115936   PMID:21128246   PMID:21163810   PMID:21165404   PMID:21167221   PMID:21211402   PMID:21283828   PMID:21356369  
PMID:21427648   PMID:21437624   PMID:21437772   PMID:21454617   PMID:21463121   PMID:21487066   PMID:21506705   PMID:21524282   PMID:21535601   PMID:21547130   PMID:21586274   PMID:21684102  
PMID:21709637   PMID:21720458   PMID:21731773   PMID:21745383   PMID:21763297   PMID:21786179   PMID:21858035   PMID:21860087   PMID:21873635   PMID:21881840   PMID:21882477   PMID:21903858  
PMID:21928345   PMID:21946941   PMID:21963718   PMID:21969093   PMID:21993004   PMID:21995626   PMID:22016393   PMID:22020222   PMID:22051851   PMID:22110238   PMID:22122951   PMID:22139647  
PMID:22177802   PMID:22199358   PMID:22200256   PMID:22200690   PMID:22200710   PMID:22204652   PMID:22223664   PMID:22257687   PMID:22268729   PMID:22286923   PMID:22289852   PMID:22291969  
PMID:22305865   PMID:22364921   PMID:22397869   PMID:22402936   PMID:22427646   PMID:22457727   PMID:22465225   PMID:22516898   PMID:22532131   PMID:22544540   PMID:22547904   PMID:22558080  
PMID:22645431   PMID:22667130   PMID:22671570   PMID:22706255   PMID:22712305   PMID:22718114   PMID:22739984   PMID:22788708   PMID:22820628   PMID:22859303   PMID:22883459   PMID:22901654  
PMID:22906271   PMID:22957045   PMID:22965799   PMID:22971139   PMID:22975753   PMID:22985578   PMID:23016931   PMID:23043898   PMID:23057632   PMID:23060593   PMID:23064462   PMID:23107442  
PMID:23122949   PMID:23158994   PMID:23175213   PMID:23179318   PMID:23223421   PMID:23318123   PMID:23376485   PMID:23388475   PMID:23407481   PMID:23412981   PMID:23457635   PMID:23509357  
PMID:23522389   PMID:23525523   PMID:23533145   PMID:23548070   PMID:23555182   PMID:23557756   PMID:23563628   PMID:23583449   PMID:23585206   PMID:23592002   PMID:23650722   PMID:23660069  
PMID:23661104   PMID:23673111   PMID:23706069   PMID:23763354   PMID:23768069   PMID:23773968   PMID:23815085   PMID:23817219   PMID:23834019   PMID:23841813   PMID:23874603   PMID:23881388  
PMID:23893334   PMID:23900236   PMID:23909892   PMID:23962148   PMID:23967215   PMID:23993112   PMID:23998545   PMID:24039251   PMID:24042342   PMID:24068394   PMID:24113427   PMID:24118356  
PMID:24143225   PMID:24174628   PMID:24212294   PMID:24283658   PMID:24330623   PMID:24347177   PMID:24389602   PMID:24427345   PMID:24442990   PMID:24447332   PMID:24457057   PMID:24479343  
PMID:24635319   PMID:24651234   PMID:24727739   PMID:24728097   PMID:24819588   PMID:24895412   PMID:24913092   PMID:24976505   PMID:24986570   PMID:25016699   PMID:25128867   PMID:25137018  
PMID:25153995   PMID:25183545   PMID:25233933   PMID:25263437   PMID:25300296   PMID:25316052   PMID:25335732   PMID:25360794   PMID:25407832   PMID:25436070   PMID:25466591   PMID:25470073  
PMID:25470608   PMID:25532000   PMID:25549087   PMID:25578494   PMID:25594187   PMID:25608838   PMID:25623427   PMID:25665057   PMID:25674294   PMID:25689086   PMID:25693084   PMID:25712810  
PMID:25756591   PMID:25765004   PMID:25854270   PMID:25868389   PMID:25883077   PMID:25895516   PMID:25932641   PMID:25951835   PMID:25998046   PMID:26002577   PMID:26077878   PMID:26120586  
PMID:26168159   PMID:26193199   PMID:26197083   PMID:26213230   PMID:26254391   PMID:26264872   PMID:26268417   PMID:26329758   PMID:26342670   PMID:26366732   PMID:26399271   PMID:26490574  
PMID:26539028   PMID:26626455   PMID:26681056   PMID:26708839   PMID:26718740   PMID:26722039   PMID:26730601   PMID:26769731   PMID:26782378   PMID:26782559   PMID:26844501   PMID:26856083  
PMID:26861446   PMID:26973196   PMID:26979530   PMID:26995105   PMID:27033700   PMID:27089280   PMID:27113051   PMID:27121520   PMID:27129797   PMID:27130446   PMID:27160811   PMID:27211553  
PMID:27258564   PMID:27296149   PMID:27297362   PMID:27302771   PMID:27304059   PMID:27329669   PMID:27506299   PMID:27509063   PMID:27561093   PMID:27619981   PMID:27644693   PMID:27689613  
PMID:27903985   PMID:27959391   PMID:28030805   PMID:28098912   PMID:28131910   PMID:28192449   PMID:28197741   PMID:28278213   PMID:28288890   PMID:28293015   PMID:28375112   PMID:28509321  
PMID:28510611   PMID:28514442   PMID:28554303   PMID:28578515   PMID:28682675   PMID:28696822   PMID:28739509   PMID:28765154   PMID:28887854   PMID:28925394   PMID:28992358   PMID:29035450  
PMID:29038419   PMID:29250646   PMID:29250654   PMID:29263043   PMID:29298087   PMID:29394913   PMID:29417309   PMID:29453088   PMID:29504111   PMID:29523123   PMID:29651326   PMID:29658577  
PMID:29692608   PMID:29752166   PMID:29753168   PMID:29929486   PMID:29930267   PMID:29979898   PMID:29989318   PMID:30010105   PMID:30035371   PMID:30037277   PMID:30052166   PMID:30134384  
PMID:30187906   PMID:30192205   PMID:30221334   PMID:30227310   PMID:30238981   PMID:30243515   PMID:30254012   PMID:30281655   PMID:30317247   PMID:30412498   PMID:30458003   PMID:30473539  
PMID:30482778   PMID:30486830   PMID:30523734   PMID:30561224   PMID:30626536   PMID:30676640   PMID:30695426   PMID:30806727   PMID:30890055   PMID:31018823   PMID:31074490   PMID:31086224  
PMID:31273966   PMID:31380578   PMID:31397194   PMID:31545548   PMID:31588644   PMID:31625350   PMID:31653704   PMID:31658546   PMID:31669537   PMID:31861382   PMID:31894031   PMID:32034211  
PMID:32049862   PMID:32071226   PMID:32200451   PMID:32258173   PMID:32325785   PMID:32423054   PMID:32431079   PMID:32587306   PMID:32702237   PMID:32955903   PMID:33183761   PMID:33419373  


Genomics

Comparative Map Data
TIMP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX47,582,408 - 47,586,789 (+)EnsemblGRCh38hg38GRCh38
GRCh38X47,582,408 - 47,586,789 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X47,441,835 - 47,446,188 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X47,326,634 - 47,331,134 (+)NCBINCBI36hg18NCBI36
Build 34X47,198,084 - 47,202,441NCBI
CeleraX51,636,947 - 51,641,447 (+)NCBI
Cytogenetic MapXp11.3NCBI
HuRefX45,154,211 - 45,158,632 (+)NCBIHuRef
CHM1_1X47,472,792 - 47,477,292 (+)NCBICHM1_1
Timp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X20,736,405 - 20,740,976 (+)NCBIGRCm39mm39
GRCm39 EnsemblX20,736,405 - 20,740,974 (+)Ensembl
GRCm38X20,870,166 - 20,874,737 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX20,870,166 - 20,874,735 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X20,447,292 - 20,451,863 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X20,027,998 - 20,031,591 (+)NCBImm8
CeleraX19,001,307 - 19,005,878 (+)NCBICelera
Cytogenetic MapXA1.3NCBI
cM MapX16.38NCBI
Timp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X1,212,969 - 1,217,714 (-)NCBI
Rnor_6.0 EnsemblX1,364,786 - 1,369,384 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X1,364,771 - 1,369,451 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X2,179,962 - 2,184,814 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X12,542,496 - 12,547,094 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X12,548,051 - 12,552,650 (-)NCBI
CeleraX1,780,586 - 1,785,184 (-)NCBICelera
Cytogenetic MapXq11NCBI
Timp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955516505,789 - 512,118 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955516507,113 - 511,360 (-)NCBIChiLan1.0ChiLan1.0
TIMP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X47,914,906 - 47,919,419 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX47,914,906 - 47,919,419 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X40,018,190 - 40,022,636 (+)NCBIMhudiblu_PPA_v0panPan3
TIMP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X41,201,623 - 41,205,314 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX41,201,638 - 41,205,310 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX15,576,764 - 15,580,333 (+)NCBI
ROS_Cfam_1.0X41,335,929 - 41,339,499 (+)NCBI
UMICH_Zoey_3.1X41,323,532 - 41,327,103 (+)NCBI
UNSW_CanFamBas_1.0X41,311,800 - 41,315,371 (+)NCBI
UU_Cfam_GSD_1.0X41,404,449 - 41,408,018 (+)NCBI
Timp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X33,505,193 - 33,509,420 (+)NCBI
SpeTri2.0NW_00493650213,345,936 - 13,350,170 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TIMP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX42,102,172 - 42,106,297 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X42,103,251 - 42,106,289 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X47,372,604 - 47,375,643 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig CytomapXpNCBI
TIMP1
(Chlorocebus sabaeus - African green monkey)
No map positions available.
Timp1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624978120,723 - 125,006 (+)NCBI

Position Markers
STS-AA001911  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,445,999 - 47,446,181UniSTSGRCh37
Build 36X47,330,943 - 47,331,125RGDNCBI36
CeleraX51,641,256 - 51,641,438RGD
Cytogenetic MapXp11.23UniSTS
Cytogenetic MapXp11.3-p11.23UniSTS
HuRefX45,158,441 - 45,158,623UniSTS
GeneMap99-GB4 RH MapX135.36UniSTS
GDB:192509  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,446,080 - 47,446,186UniSTSGRCh37
Build 36X47,331,024 - 47,331,130RGDNCBI36
CeleraX51,641,337 - 51,641,443RGD
Cytogenetic MapXp11.23UniSTS
Cytogenetic MapXp11.3-p11.23UniSTS
HuRefX45,158,522 - 45,158,628UniSTS
GDB:178392  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,442,834 - 47,446,098UniSTSGRCh37
Build 36X47,327,778 - 47,331,042RGDNCBI36
CeleraX51,638,091 - 51,641,355RGD
Cytogenetic MapXp11.3-p11.23UniSTS
HuRefX45,155,276 - 45,158,540UniSTS
GDB:182149  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,442,915 - 47,446,098UniSTSGRCh37
Build 36X47,327,859 - 47,331,042RGDNCBI36
CeleraX51,638,172 - 51,641,355RGD
Cytogenetic MapXp11.3-p11.23UniSTS
HuRefX45,155,357 - 45,158,540UniSTS
GDB:182150  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X47,444,346 - 47,446,098UniSTSGRCh37
Build 36X47,329,290 - 47,331,042RGDNCBI36
CeleraX51,639,603 - 51,641,355RGD
Cytogenetic MapXp11.3-p11.23UniSTS
HuRefX45,156,788 - 45,158,540UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2046
Count of miRNA genes:821
Interacting mature miRNAs:915
Transcripts:ENST00000218388, ENST00000377017, ENST00000377018, ENST00000441738, ENST00000445623, ENST00000456754
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 44 838 152 37 64 35 272 25 83 15 161 307 3 160 237
Medium 2379 2138 1559 576 1765 420 3854 1930 3370 398 1282 1248 167 1044 2322 2
Low 14 15 14 11 87 10 231 242 265 6 15 36 3 1 229 3 2
Below cutoff 2 1 26 10 1 19 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_012533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide A10416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY932824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ181804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU857950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR407638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
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Reference Sequences
RefSeq Acc Id: ENST00000218388   ⟹   ENSP00000218388
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,582,436 - 47,586,789 (+)Ensembl
RefSeq Acc Id: ENST00000377017   ⟹   ENSP00000366216
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,582,450 - 47,586,789 (+)Ensembl
RefSeq Acc Id: ENST00000441738   ⟹   ENSP00000405380
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,582,509 - 47,585,254 (+)Ensembl
RefSeq Acc Id: ENST00000445623   ⟹   ENSP00000410983
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,585,342 - 47,586,789 (+)Ensembl
RefSeq Acc Id: ENST00000456754   ⟹   ENSP00000406671
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX47,582,408 - 47,586,023 (+)Ensembl
RefSeq Acc Id: NM_003254   ⟹   NP_003245
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,582,436 - 47,586,789 (+)NCBI
GRCh37X47,441,690 - 47,446,190 (+)ENTREZGENE
Build 36X47,326,634 - 47,331,134 (+)NCBI Archive
HuRefX45,154,211 - 45,158,632 (+)ENTREZGENE
CHM1_1X47,472,792 - 47,477,292 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029766   ⟹   XP_016885255
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,582,408 - 47,586,500 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003245   ⟸   NM_003254
- Peptide Label: precursor
- UniProtKB: P01033 (UniProtKB/Swiss-Prot),   Q6FGX5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885255   ⟸   XM_017029766
- Peptide Label: isoform X1
- UniProtKB: B4DJK3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000218388   ⟸   ENST00000218388
RefSeq Acc Id: ENSP00000405380   ⟸   ENST00000441738
RefSeq Acc Id: ENSP00000366216   ⟸   ENST00000377017
RefSeq Acc Id: ENSP00000406671   ⟸   ENST00000456754
RefSeq Acc Id: ENSP00000410983   ⟸   ENST00000445623
Protein Domains
NTR

Promoters
RGD ID:6808701
Promoter ID:HG_KWN:66616
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000377013,   ENST00000377017,   NM_003254,   OTTHUMT00000056426,   UC010NHT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X47,326,466 - 47,326,966 (+)MPROMDB
RGD ID:6853158
Promoter ID:EP74400
Type:multiple initiation site
Name:HS_TIMP1
Description:Tissue inhibitor of metalloproteinase 1 (erythroid potentiatingactivity, collagenase inhibitor).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36X47,326,779 - 47,326,839EPD
RGD ID:6809327
Promoter ID:HG_KWN:66617
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000056427
Position:
Human AssemblyChrPosition (strand)Source
Build 36X47,329,126 - 47,329,732 (+)MPROMDB
RGD ID:13605176
Promoter ID:EPDNEW_H28772
Type:initiation region
Name:TIMP1_2
Description:TIMP metallopeptidase inhibitor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28773  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,582,305 - 47,582,365EPDNEW
RGD ID:13605178
Promoter ID:EPDNEW_H28773
Type:initiation region
Name:TIMP1_1
Description:TIMP metallopeptidase inhibitor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28772  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X47,582,439 - 47,582,499EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.4-11.23(chrX:41434043-47880733)x1 copy number loss See cases [RCV000053088] ChrX:41434043..47880733 [GRCh38]
ChrX:41293296..47619970 [GRCh37]
ChrX:41178240..47625076 [NCBI36]
ChrX:Xp11.4-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp11.3-11.23(chrX:44765664-49343053)x3 copy number gain See cases [RCV000137271] ChrX:44765664..49343053 [GRCh38]
ChrX:44624910..49218180 [GRCh37]
ChrX:44509854..49105124 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp11.3-11.23(chrX:47437831-47845763)x2 copy number gain See cases [RCV000143111] ChrX:47437831..47845763 [GRCh38]
ChrX:47297230..47705162 [GRCh37]
ChrX:47182174..47590106 [NCBI36]
ChrX:Xp11.3-11.23
uncertain significance
GRCh38/hg38 Xp11.3-11.23(chrX:44632305-47607180)x2 copy number gain See cases [RCV000143089] ChrX:44632305..47607180 [GRCh38]
ChrX:44491551..47466579 [GRCh37]
ChrX:44376495..47351523 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NC_000023.10:g.(?_47432243)_(47479147_?)dup duplication Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000640889] ChrX:47572844..47619748 [GRCh38]
ChrX:47432243..47479147 [GRCh37]
ChrX:Xp11.3-11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:46326268-48801984)x2 copy number gain See cases [RCV000511234] ChrX:46326268..48801984 [GRCh37]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
NC_000023.11:g.(?_47572844)_(47605399_?)del deletion Epilepsy, X-linked, with variable learning disabilities and behavior disorders [RCV000708072] ChrX:47572844..47605399 [GRCh38]
ChrX:47432243..47464798 [GRCh37]
ChrX:Xp11.3-11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NM_003254.3(TIMP1):c.575G>A (p.Arg192Gln) single nucleotide variant not provided [RCV000893497] ChrX:47586642 [GRCh38]
ChrX:47446041 [GRCh37]
ChrX:Xp11.3
benign
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_003254.3(TIMP1):c.574C>T (p.Arg192Trp) single nucleotide variant not provided [RCV000907154] ChrX:47586641 [GRCh38]
ChrX:47446040 [GRCh37]
ChrX:Xp11.3
likely benign
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622) copy number gain not provided [RCV000767648] ChrX:43507300..48929622 [GRCh37]
ChrX:Xp11.3-11.23
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11820 AgrOrtholog
COSMIC TIMP1 COSMIC
Ensembl Genes ENSG00000102265 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000218388 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000366216 UniProtKB/TrEMBL
  ENSP00000405380 UniProtKB/TrEMBL
  ENSP00000406671 UniProtKB/TrEMBL
  ENSP00000410983 UniProtKB/TrEMBL
Ensembl Transcript ENST00000218388 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000377017 UniProtKB/TrEMBL
  ENST00000441738 UniProtKB/TrEMBL
  ENST00000445623 UniProtKB/TrEMBL
  ENST00000456754 UniProtKB/TrEMBL
Gene3D-CATH 2.40.50.120 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.370.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000102265 GTEx
HGNC ID HGNC:11820 ENTREZGENE
Human Proteome Map TIMP1 Human Proteome Map
InterPro Netrin_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIMP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIMP-like_OB-fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIMP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIMP_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIMP_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7076 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7076 ENTREZGENE
OMIM 305370 OMIM
PANTHER PTHR11844 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11844:SF20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TIMP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36526 PharmGKB
PROSITE NTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIMP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART NTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50242 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DJK3 ENTREZGENE, UniProtKB/TrEMBL
  H0Y789_HUMAN UniProtKB/TrEMBL
  P01033 ENTREZGENE
  Q58P21_HUMAN UniProtKB/TrEMBL
  Q5H9A7_HUMAN UniProtKB/TrEMBL
  Q5H9B4_HUMAN UniProtKB/TrEMBL
  Q5H9B5_HUMAN UniProtKB/TrEMBL
  Q6FGX5 ENTREZGENE, UniProtKB/TrEMBL
  TIMP1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q14252 UniProtKB/Swiss-Prot
  Q9UCU1 UniProtKB/Swiss-Prot