TIMP1 (TIMP metallopeptidase inhibitor 1) - Rat Genome Database

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Gene: TIMP1 (TIMP metallopeptidase inhibitor 1) Homo sapiens
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Symbol: TIMP1
Name: TIMP metallopeptidase inhibitor 1
RGD ID: 1347215
HGNC Page HGNC:11820
Description: Enables 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. Located in 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
Previously 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 Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X47,582,436 - 47,586,789 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX47,582,408 - 47,586,789 (+)EnsemblGRCh38hg38GRCh38
GRCh37X47,441,835 - 47,446,188 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X47,326,634 - 47,331,134 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X47,198,084 - 47,202,441NCBI
CeleraX51,636,947 - 51,641,447 (+)NCBICelera
Cytogenetic MapXp11.3NCBI
HuRefX45,154,211 - 45,158,632 (+)NCBIHuRef
CHM1_1X47,472,792 - 47,477,292 (+)NCBICHM1_1
T2T-CHM13v2.0X46,992,326 - 46,996,679 (+)NCBIT2T-CHM13v2.0
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)
atherosclerosis  (ISO)
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)
congenital disorder of glycosylation type IIm  (IAGP)
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)
Hemorrhagic Shock  (ISO)
hyperhomocysteinemia  (ISO)
Hyperoxia  (ISO)
hypertension  (EXP,IEP,ISO)
IgA glomerulonephritis  (EXP)
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  (IAGP)
Inflammation  (EXP)
intracranial aneurysm  (ISO)
Kawasaki disease  (IEP)
Lymphatic Metastasis  (IEP)
metabolic dysfunction-associated steatohepatitis  (ISO)
Neoplasm Invasiveness  (EXP)
Neoplasm Metastasis  (IEP)
neurodegeneration with brain iron accumulation 5  (IAGP)
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)
X-linked severe congenital neutropenia  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
(-)-epigallocatechin 3-gallate  (ISO)
(1->4)-beta-D-glucan  (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,ISO)
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',5,5'-hexachlorobiphenyl  (EXP)
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)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (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  (EXP,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  (EXP,ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-hydroxynon-2-enal  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
5-azacytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
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,ISO)
alendronic acid  (ISO)
all-trans-retinoic acid  (EXP,ISO)
allyl alcohol  (ISO)
Allylamine  (ISO)
AM-251  (EXP)
aminoguanidine  (ISO)
amitrole  (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)
astragaloside IV  (ISO)
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-amyrin  (ISO)
beta-D-glucosamine  (ISO)
beta-lapachone  (EXP)
beta-naphthoflavone  (ISO)
betulin  (ISO)
betulinic acid  (ISO)
bezafibrate  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisdemethoxycurcumin  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol A diglycidyl ether  (ISO)
bisphenol F  (ISO)
bleomycin A2  (ISO)
bromobenzene  (ISO)
budesonide  (ISO)
busulfan  (EXP)
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)
carvone  (EXP)
cefaloridine  (ISO)
celastrol  (ISO)
chenodeoxycholic acid  (ISO)
chlordecone  (ISO)
chloroform  (ISO)
chloropicrin  (EXP)
chloroquine  (EXP,ISO)
chlorpyrifos  (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) chloride  (EXP)
copper(II) sulfate  (EXP)
cordycepin  (EXP)
crocidolite asbestos  (EXP,ISO)
cucurbitacin E  (ISO)
Cuprizon  (ISO)
curcumin  (EXP,ISO)
cyanuric acid  (ISO)
cycloheximide  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP,ISO)
cylindrospermopsin  (EXP)
cystamine  (ISO)
cytarabine  (EXP)
D-glucose  (EXP,ISO)
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)
dimethyl sulfoxide  (EXP)
dioxygen  (ISO)
diuron  (EXP,ISO)
dizocilpine maleate  (ISO)
dopamine  (ISO)
doxorubicin  (EXP,ISO)
ebselen  (ISO)
edaravone  (ISO)
elemental selenium  (EXP,ISO)
erastin  (EXP)
erythromycin estolate  (ISO)
ethanol  (ISO)
fasudil  (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)
fructose  (ISO)
fucoidan  (EXP)
furan  (ISO)
gadodiamide hydrate  (EXP,ISO)
gallic acid  (ISO)
genistein  (EXP,ISO)
gentamycin  (ISO)
glafenine  (ISO)
glucose  (EXP,ISO)
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)
hydralazine  (ISO)
hydrogen peroxide  (ISO)
icariin  (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)
ivermectin  (EXP)
juglone  (EXP)
ketoconazole  (ISO)
L-ascorbic acid  (EXP,ISO)
L-cysteine  (ISO)
L-methionine  (ISO)
lamivudine  (EXP)
lead diacetate  (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)
methimazole  (ISO)
methylmercury chloride  (EXP,ISO)
methylparaben  (EXP)
mifepristone  (ISO)
milrinone  (ISO)
mitoxantrone  (ISO)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
monocrotaline  (ISO)
monodansylcadaverine  (ISO)
Muraglitazar  (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,ISO)
nimodipine  (ISO)
nobiletin  (ISO)
NS-398  (EXP)
nystatin  (ISO)
obeticholic acid  (EXP,ISO)
ochratoxin A  (ISO)
oleanolic acid  (ISO)
oleic acid  (EXP)
orciprenaline  (ISO)
oxaliplatin  (ISO)
oxybenzone  (ISO)
ozone  (ISO)
p-menthan-3-ol  (ISO)
paclitaxel  (EXP)
Paeonol  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
patulin  (ISO)
pentane-2,3-dione  (ISO)
Pentoxifylline  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (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)
raspberry ketone  (ISO)
razoxane  (ISO)
resveratrol  (EXP,ISO)
rimonabant  (ISO)
rolipram  (EXP)
rotenone  (EXP)
SB 203580  (EXP)
selenium atom  (EXP,ISO)
serpentine asbestos  (ISO)
silibinin  (ISO)
silicon dioxide  (EXP,ISO)
simvastatin  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
solasodine  (EXP)
sorafenib  (EXP)
streptozocin  (ISO)
sulfadimethoxine  (ISO)
sulfasalazine  (ISO)
sulforaphane  (EXP)
sulindac  (EXP)
sumatriptan  (ISO)
sunitinib  (EXP,ISO)
T-2 toxin  (EXP,ISO)
tacrolimus hydrate  (ISO)
tamibarotene  (EXP)
tebuconazole  (EXP)
temozolomide  (EXP)
terameprocol  (ISO)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
tetramethylpyrazine  (ISO)
tetraphene  (EXP)
thalidomide  (ISO)
theophylline  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
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,ISO)
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
Autism  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Role of TIMP-1 and TIMP-2 in the progression of cerebral aneurysms. Aoki T, etal., Stroke. 2007 Aug;38(8):2337-45. Epub 2007 Jun 14.
2. Serum MMP-9/TIMP-1 and MMP-2/TIMP-2 ratios in multiple sclerosis: relationships with different magnetic resonance imaging measures of disease activity during IFN-beta-1a treatment. Avolio C, etal., Mult Scler. 2005 Aug;11(4):441-6.
3. Matrix metalloproteinase-9 (MMP-9) and tissue inhibitor of matrix metalloproteinase (TIMP-1) in patients with relapsing-remitting multiple sclerosis treated with interferon beta. Boz C, etal., Clin Neurol Neurosurg. 2006 Feb;108(2):124-8.
4. Spatial and temporal pattern of expression of interstitial collagenase, stromelysin/transin, gelatinase A, and TIMP-1 during experimental gastric ulcer healing. Calabro A, etal., Digestion. 2004;70(2):127-38. Epub 2004 Sep 16.
5. Elevated levels of matrix metalloproteinase 9 and tissue inhibitor of metalloproteinase 1 during the acute phase of Kawasaki disease. Chua PK, etal., Clin Diagn Lab Immunol. 2003 Mar;10(2):308-14.
6. Glomerular Protein Levels of Matrix Metalloproteinase-1 and Tissue Inhibitor of Metalloproteinase-1 Are Lower in Diabetic Subjects. Cornish TC, etal., J Histochem Cytochem. 2009 Jun 8.
7. Investigation of the molecular mechanisms preceding PDE4 inhibitor-induced vasculopathy in rats: tissue inhibitor of metalloproteinase 1, a potential predictive biomarker. Dagues N, etal., Toxicol Sci. 2007 Nov;100(1):238-47. Epub 2007 Jun 14.
8. Differential spatial distribution and temporal regulation of tissue inhibitor of metalloproteinase mRNA expression during rat central nervous system development. Fager N and Jaworski DM, Mech Dev. 2000 Nov;98(1-2):105-9.
9. [Metalloproteinases MMP-2 and MMP-9 and their inhibitors TIMP-1 and TIMP-2 levels in children and adolescents with type 1 diabetes.] Florys B, etal., Endokrynol Diabetol Chor Przemiany Materii Wieku Rozw. 2006;12(3):184-9.
10. Elevated matrix metalloproteinase 9 and tissue inhibitor of metalloproteinase 1 in obese children and adolescents. Glowinska-Olszewska B and Urban M, Metabolism. 2007 Jun;56(6):799-805.
11. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
12. Tissue inhibitor of metalloproteinase 1 is an independent predictor of prognosis in patients with nonsmall cell lung carcinoma who undergo resection with curative intent. Gouyer V, etal., Cancer. 2005 Apr 15;103(8):1676-84.
13. [Expression of matrix metalloproteinase-2, 9 and it's tissue inhibitor-1, 2 in endometrial carcinoma] Guo W, etal., Zhonghua Fu Chan Ke Za Zhi. 2002 Oct;37(10):604-7.
14. Increased cardiac expression of tissue inhibitor of metalloproteinase-1 and tissue inhibitor of metalloproteinase-2 is related to cardiac fibrosis and dysfunction in the chronic pressure-overloaded human heart. Heymans S, etal., Circulation. 2005 Aug 23;112(8):1136-44. Epub 2005 Aug 15.
15. Hyperoxia decreases matrix metalloproteinase-9 and increases tissue inhibitor of matrix metalloproteinase-1 protein in the newborn rat lung: association with arrested alveolarization. Hosford GE, etal., Pediatr Res. 2004 Jul;56(1):26-34. Epub 2004 May 5.
16. Upregulation of tissue inhibitor of metalloproteases-1 (TIMP-1) and procollagen-N-peptidase in hypertension-induced renal damage. Hultstrom M, etal., Nephrol Dial Transplant. 2008 Mar;23(3):896-903. Epub 2007 Oct 31.
17. Expression of matrix metalloproteinases and endogenous inhibitors within ascending aortic aneurysms of patients with Marfan syndrome. Ikonomidis JS, etal., Circulation. 2006 Jul 4;114(1 Suppl):I365-70.
18. Tissue inhibitor of metalloproteinase-1 messenger RNA expression is enhanced relative to interstitial collagenase messenger RNA in experimental liver injury and fibrosis. Iredale JP, etal., Hepatology. 1996 Jul;24(1):176-84.
19. Nerve growth factor metabolic dysfunction in Down's syndrome brains. Iulita MF, etal., Brain. 2014 Mar;137(Pt 3):860-72. doi: 10.1093/brain/awt372. Epub 2014 Feb 11.
20. Differential regulation of tissue inhibitor of metalloproteinase mRNA expression in response to intracranial injury. Jaworski DM Glia. 2000 Apr;30(2):199-208.
21. TIMP-1 transgenic mice recover from diabetes induced by multiple low-dose streptozotocin. Jiang H, etal., Diabetes. 2007 Jan;56(1):49-56.
22. Mechanism of Yiqi Huayu Bushen Recipe in treating cervical syndrome with kidney deficiency in rats Jiang JC, etal., Zhong Xi Yi Jie He Xue Bao. 2008 Dec;6(12):1280-5. doi: 10.3736/jcim200812114.
23. Increased expression of matrix metalloproteinases 2 and 9 and tissue inhibitors of metalloproteinases 1 and 2 correlate with poor prognostic variables in renal cell carcinoma. Kallakury BV, etal., Clin Cancer Res. 2001 Oct;7(10):3113-9.
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Genomics

Comparative Map Data
TIMP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X47,582,436 - 47,586,789 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX47,582,408 - 47,586,789 (+)EnsemblGRCh38hg38GRCh38
GRCh37X47,441,835 - 47,446,188 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X47,326,634 - 47,331,134 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X47,198,084 - 47,202,441NCBI
CeleraX51,636,947 - 51,641,447 (+)NCBICelera
Cytogenetic MapXp11.3NCBI
HuRefX45,154,211 - 45,158,632 (+)NCBIHuRef
CHM1_1X47,472,792 - 47,477,292 (+)NCBICHM1_1
T2T-CHM13v2.0X46,992,326 - 46,996,679 (+)NCBIT2T-CHM13v2.0
Timp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X20,736,524 - 20,740,972 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX20,736,405 - 20,740,974 (+)EnsemblGRCm39 Ensembl
GRCm38X20,870,166 - 20,874,737 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX20,870,166 - 20,874,735 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X20,447,292 - 20,451,863 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X20,027,998 - 20,031,591 (+)NCBIMGSCv36mm8
CeleraX19,001,307 - 19,005,878 (+)NCBICelera
Cytogenetic MapXA1.3NCBI
cM MapX16.38NCBI
Timp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X3,766,509 - 3,772,578 (-)NCBIGRCr8
mRatBN7.2X1,212,969 - 1,217,714 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX1,212,972 - 1,217,664 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX1,241,133 - 1,245,729 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X4,716,824 - 4,721,420 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X1,037,983 - 1,042,580 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X1,364,771 - 1,369,451 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX1,364,786 - 1,369,384 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X2,179,962 - 2,184,814 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X12,542,496 - 12,547,094 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v2X49,208,573 - 49,213,215 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X49,212,076 - 49,216,587 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X40,018,190 - 40,022,636 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X47,914,906 - 47,919,419 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX47,914,906 - 47,919,419 (+)Ensemblpanpan1.1panPan2
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 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X41,335,929 - 41,339,499 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX41,335,826 - 41,339,498 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X41,323,532 - 41,327,103 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X41,311,800 - 41,315,371 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X41,404,449 - 41,408,018 (+)NCBIUU_Cfam_GSD_1.0
Timp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X33,505,193 - 33,509,420 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493650213,345,832 - 13,350,248 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
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 - 42,106,296 (+)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 - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366607610,014,573 - 10,051,570 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Timp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624978121,803 - 124,912 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624978120,723 - 125,006 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TIMP1
7 total Variants

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 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-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-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-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-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: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)x3 copy number gain See cases [RCV000240314] ChrX:150002..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 1, 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-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 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-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: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-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [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|uncertain significance
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
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
NC_000023.11:g.(?_47572844)_(47605399_?)del deletion Epilepsy, X-linked 1, 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: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 Autism [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
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 circulating creatine kinase concentration [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 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.(?_47001716)_(50659607_?)dup duplication Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV003122411]|Neurodegeneration with brain iron accumulation 5 [RCV003105408]|SLC35A2-congenital disorder of glycosylation [RCV003122412] ChrX:47001716..50659607 [GRCh37]
ChrX:Xp11.23-11.22
uncertain significance
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:168546-57841304) copy number loss Turner syndrome [RCV002280671] ChrX:168546..57841304 [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
GRCh37/hg19 Xp11.23-11.22(chrX:47179068-54424785)x2 copy number gain not provided [RCV001537899] ChrX:47179068..54424785 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele complex Turner syndrome [RCV002280670] ChrX:590376..56315041 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789) copy number loss Turner syndrome [RCV002280669] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.(?_46466387)_(50659607_?)del deletion Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV003116676] ChrX:46466387..50659607 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NC_000023.10:g.(?_46466387)_(47489243_?)del deletion Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV003123056] ChrX:46466387..47489243 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3 copy number gain not provided [RCV002474503] ChrX:39525562..52832596 [GRCh37]
ChrX:Xp11.4-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003254.3(TIMP1):c.22G>A (p.Ala8Thr) single nucleotide variant not specified [RCV004099407] ChrX:47583437 [GRCh38]
ChrX:47442836 [GRCh37]
ChrX:Xp11.3
uncertain significance
NC_000023.10:g.(?_46466387)_(51241672_?)del deletion not provided [RCV003154905] ChrX:46466387..51241672 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_003254.3(TIMP1):c.608G>A (p.Arg203Gln) single nucleotide variant not specified [RCV004258381] ChrX:47586675 [GRCh38]
ChrX:47446074 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1 copy number loss not provided [RCV003483407] ChrX:2696762..53113314 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114) copy number loss not specified [RCV003986240] ChrX:168546..58364114 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170) copy number loss not specified [RCV003986200] ChrX:168546..55653170 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NC_000023.10:g.(?_46466387)_(51241672_?)dup duplication Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV004580271] ChrX:46466387..51241672 [GRCh37]
ChrX:Xp11.23-11.22
uncertain significance
NC_000023.10:g.(?_47432333)_(47489243_?)dup duplication not provided [RCV004580668] ChrX:47432333..47489243 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_003254.3(TIMP1):c.388A>C (p.Ser130Arg) single nucleotide variant not specified [RCV004676979] ChrX:47585602 [GRCh38]
ChrX:47445001 [GRCh37]
ChrX:Xp11.3
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 copy number gain Klinefelter syndrome [RCV004579655] ChrX:2757837..156030895 [GRCh38]
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 Xp22.33-11.21(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-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-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 Xp22.33-11.22(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
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: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:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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: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 Xp22.33-11.22(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:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
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 Xp22.33-11.1(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:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [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 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
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
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
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 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_006950.3(SYN1):c.775-8085A>G single nucleotide variant Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV001513027]|not provided [RCV004714230] ChrX:47585586 [GRCh38]
ChrX:47444985 [GRCh37]
ChrX:Xp11.3
benign
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.(?_46618120)_(48549553_?)del deletion X-linked severe congenital neutropenia [RCV003111118]|not provided [RCV003122288] ChrX:46618120..48549553 [GRCh37]
ChrX:Xp11.23
pathogenic|no classifications from unflagged records
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1 copy number loss not provided [RCV003483920] ChrX:36355238..54106257 [GRCh37]
ChrX:Xp21.1-11.22
pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:44663115-48237646)x3 copy number gain not provided [RCV003485287] ChrX:44663115..48237646 [GRCh37]
ChrX:Xp11.3-11.23
uncertain significance
NM_003254.3(TIMP1):c.195G>T (p.Met65Ile) single nucleotide variant not provided [RCV003438204] ChrX:47585009 [GRCh38]
ChrX:47444408 [GRCh37]
ChrX:Xp11.3
likely benign
NM_003254.3(TIMP1):c.98C>T (p.Thr33Met) single nucleotide variant not specified [RCV004469895] ChrX:47583513 [GRCh38]
ChrX:47442912 [GRCh37]
ChrX:Xp11.3
likely benign
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.

Markers in Region
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


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2251 4968 1726 2347 5 624 1942 465 2270 7297 6463 53 3728 1 851 1743 1614 174 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
  CP068255 (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
  D11139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB571112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB668243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L47357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L47361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M12670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M59906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S68252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X02598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X03124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y09720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z84466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000218388   ⟹   ENSP00000218388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX47,582,436 - 47,586,789 (+)Ensembl
Ensembl Acc Id: ENST00000377017   ⟹   ENSP00000366216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX47,582,450 - 47,586,789 (+)Ensembl
Ensembl Acc Id: ENST00000441738   ⟹   ENSP00000405380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX47,582,509 - 47,585,254 (+)Ensembl
Ensembl Acc Id: ENST00000445623   ⟹   ENSP00000410983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX47,585,342 - 47,586,789 (+)Ensembl
Ensembl Acc Id: ENST00000456754   ⟹   ENSP00000406671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.0X46,992,326 - 46,996,679 (+)NCBI
Sequence:
RefSeq Acc Id: NP_003245   ⟸   NM_003254
- Peptide Label: precursor
- UniProtKB: Q14252 (UniProtKB/Swiss-Prot),   Q9UCU1 (UniProtKB/Swiss-Prot),   P01033 (UniProtKB/Swiss-Prot),   Q6FGX5 (UniProtKB/TrEMBL),   B3KQF4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000218388   ⟸   ENST00000218388
Ensembl Acc Id: ENSP00000405380   ⟸   ENST00000441738
Ensembl Acc Id: ENSP00000366216   ⟸   ENST00000377017
Ensembl Acc Id: ENSP00000406671   ⟸   ENST00000456754
Ensembl Acc Id: ENSP00000410983   ⟸   ENST00000445623
Protein Domains
NTR

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P01033-F1-model_v2 AlphaFold P01033 1-207 view protein structure

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

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 Transcript ENST00000218388 ENTREZGENE
  ENST00000218388.9 UniProtKB/Swiss-Prot
  ENST00000377017.5 UniProtKB/TrEMBL
  ENST00000441738.1 UniProtKB/TrEMBL
  ENST00000445623.1 UniProtKB/TrEMBL
  ENST00000456754.6 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
  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 B3KQF4 ENTREZGENE, UniProtKB/TrEMBL
  H0Y789_HUMAN UniProtKB/TrEMBL
  P01033 ENTREZGENE
  Q14252 ENTREZGENE
  Q58P21_HUMAN UniProtKB/TrEMBL
  Q5H9A7_HUMAN UniProtKB/TrEMBL
  Q5H9B4_HUMAN UniProtKB/TrEMBL
  Q5H9B5_HUMAN UniProtKB/TrEMBL
  Q6FGX5 ENTREZGENE, UniProtKB/TrEMBL
  Q9UCU1 ENTREZGENE
  TIMP1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q14252 UniProtKB/Swiss-Prot
  Q9UCU1 UniProtKB/Swiss-Prot