MIR221 (microRNA 221) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: MIR221 (microRNA 221) Homo sapiens
Analyze
Symbol: MIR221
Name: microRNA 221
RGD ID: 1349484
HGNC Page HGNC:31601
Description: Enables mRNA base-pairing translational repressor activity. Involved in several processes, including negative regulation of macromolecule metabolic process; regulation of cell migration; and regulation of signal transduction. Located in extracellular space and extracellular vesicle. Implicated in gastrointestinal stromal tumor; hepatocellular carcinoma; and oral squamous cell carcinoma. Biomarker of gastrointestinal system cancer (multiple); metabolic dysfunction-associated steatohepatitis; and thyroid gland carcinoma.
Type: ncrna (Ensembl: miRNA)
RefSeq Status: PROVISIONAL
Previously known as: mir-221; MIRN221; miRNA221
RGD Orthologs
Mouse
Rat
Dog
Pig
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
GRCh38X45,746,157 - 45,746,266 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX45,746,157 - 45,746,266 (-)EnsemblGRCh38hg38GRCh38
GRCh37X45,605,585 - 45,605,694 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X45,490,528 - 45,490,637 (-)NCBINCBI36Build 36hg18NCBI36
CeleraX49,797,482 - 49,797,591 (-)NCBICelera
Cytogenetic MapXp11.3NCBI
HuRefX43,320,976 - 43,321,084 (-)NCBIHuRef
CHM1_1X45,638,042 - 45,638,151 (-)NCBICHM1_1
T2T-CHM13v2.0X45,155,612 - 45,155,721 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
cellular response to amino acid stimulus  (ISO)
cellular response to decreased oxygen levels  (ISO)
cellular response to forskolin  (ISO)
cellular response to glucose stimulus  (ISO)
cellular response to nerve growth factor stimulus  (ISO)
cellular response to tumor necrosis factor  (ISO)
inflammatory response  (IDA)
long-term synaptic potentiation  (ISO)
miRNA-mediated gene silencing by inhibition of translation  (IDA,IMP)
miRNA-mediated post-transcriptional gene silencing  (IDA,IGI,IMP)
negative regulation by host of viral genome replication  (ISS)
negative regulation of apoptotic process  (IDA,IMP)
negative regulation of cell adhesion molecule production  (IGI)
negative regulation of cell migration involved in sprouting angiogenesis  (IGI)
negative regulation of cell population proliferation  (IDA)
negative regulation of cytokine production involved in inflammatory response  (ISS)
negative regulation of double-strand break repair  (IDA)
negative regulation of ERK1 and ERK2 cascade  (IDA)
negative regulation of hematopoietic stem cell proliferation  (IDA)
negative regulation of heterotypic cell-cell adhesion  (IDA)
negative regulation of inflammatory response  (IGI)
negative regulation of interleukin-21 production  (IDA)
negative regulation of leukocyte adhesion to vascular endothelial cell  (IGI)
negative regulation of necroptotic process  (IDA)
negative regulation of osteoblast differentiation  (ISO)
negative regulation of sprouting angiogenesis  (IGI)
negative regulation of TRAIL-activated apoptotic signaling pathway  (IMP)
negative regulation of vascular associated smooth muscle cell differentiation  (IMP)
platelet-derived growth factor receptor signaling pathway  (IMP)
positive regulation of apoptotic process  (IDA)
positive regulation of axon regeneration  (ISS)
positive regulation of blood vessel endothelial cell migration  (IMP)
positive regulation of epithelial cell migration  (IGI)
positive regulation of epithelial to mesenchymal transition  (IGI)
positive regulation of erythrocyte differentiation  (IDA)
positive regulation of G1/S transition of mitotic cell cycle  (IDA)
positive regulation of receptor signaling pathway via JAK-STAT  (IDA)
positive regulation of Schwann cell migration  (ISO,ISS)
positive regulation of Schwann cell proliferation  (ISO)
positive regulation of Schwann cell proliferation involved in axon regeneration  (ISS)
positive regulation of vascular associated smooth muscle cell dedifferentiation  (IMP)
positive regulation of vascular associated smooth muscle cell migration  (IMP)
positive regulation of vascular associated smooth muscle cell proliferation  (IMP,ISS)
positive regulation of wound healing, spreading of epidermal cells  (IDA)
response to estradiol  (ISO)
response to glucose  (IMP)
response to oxygen levels  (ISO)
sensory perception of sound  (ISO)
Wnt signaling pathway  (ISO)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. MicroRNA-221 governs tumor suppressor HDAC6 to potentiate malignant progression of liver cancer. Bae HJ, etal., J Hepatol. 2015 Aug;63(2):408-19. doi: 10.1016/j.jhep.2015.03.019. Epub 2015 Mar 25.
2. Circulating Plasma Levels of MicroRNA-21 and MicroRNA-221 Are Potential Diagnostic Markers for Primary Intrahepatic Cholangiocarcinoma. Correa-Gallego C, etal., PLoS One. 2016 Sep 29;11(9):e0163699. doi: 10.1371/journal.pone.0163699. eCollection 2016.
3. Evaluation of circulating miR-21 and miR-222 as diagnostic biomarkers for gastric cancer. Emami SS, etal., J Cancer Res Ther. 2019 Jan-Mar;15(1):115-119. doi: 10.4103/jcrt.JCRT_592_17.
4. In Hepatocellular Carcinoma miR-221 Modulates Sorafenib Resistance through Inhibition of Caspase-3-Mediated Apoptosis. Fornari F, etal., Clin Cancer Res. 2017 Jul 15;23(14):3953-3965. doi: 10.1158/1078-0432.CCR-16-1464. Epub 2017 Jan 17.
5. miR-221-3p and miR-222-3p downregulation promoted osteogenic differentiation of bone marrow mesenchyme stem cells through IGF-1/ERK pathway under high glucose condition. Gan K, etal., Diabetes Res Clin Pract. 2020 Sep;167:108121. doi: 10.1016/j.diabres.2020.108121. Epub 2020 Mar 16.
6. Targeting hepatic miR-221/222 for therapeutic intervention of nonalcoholic steatohepatitis in mice. Jiang X, etal., EBioMedicine. 2018 Nov;37:307-321. doi: 10.1016/j.ebiom.2018.09.051. Epub 2018 Oct 10.
7. Correlation of the Levels of microRNA with Cell Composition of Axillary Lymph Node in Wistar Rats with Breast Cancer. Kabakov AV, etal., Bull Exp Biol Med. 2020 Feb;168(4):500-502. doi: 10.1007/s10517-020-04740-w. Epub 2020 Mar 10.
8. Down-regulation of miR-221 and miR-222 correlates with pronounced Kit expression in gastrointestinal stromal tumors. Koelz M, etal., Int J Oncol. 2011 Feb;38(2):503-11. doi: 10.3892/ijo.2010.857. Epub 2010 Dec 3.
9. miR-221 suppression through nanoparticle-based miRNA delivery system for hepatocellular carcinoma therapy and its diagnosis as a potential biomarker. Li F, etal., Int J Nanomedicine. 2018 Apr 13;13:2295-2307. doi: 10.2147/IJN.S157805. eCollection 2018.
10. Oroxin B Induces Apoptosis by Down-Regulating MicroRNA-221 Resulting in the Inactivation of the PTEN/PI3K/AKT Pathway in Liver Cancer. Li N, etal., Molecules. 2019 Nov 30;24(23). pii: molecules24234384. doi: 10.3390/molecules24234384.
11. A microRNA 221- and 222-mediated feedback loop maintains constitutive activation of NFκB and STAT3 in colorectal cancer cells. Liu S, etal., Gastroenterology. 2014 Oct;147(4):847-859.e11. doi: 10.1053/j.gastro.2014.06.006. Epub 2014 Jun 12.
12. MicroRNA-221-3p promotes pulmonary artery smooth muscle cells proliferation by targeting AXIN2 during pulmonary arterial hypertension. Nie X, etal., Vascul Pharmacol. 2019 May;116:24-35. doi: 10.1016/j.vph.2017.07.002. Epub 2017 Jul 8.
13. MicroRNA-221/222 upregulation indicates the activation of stellate cells and the progression of liver fibrosis. Ogawa T, etal., Gut. 2012 Nov;61(11):1600-9. doi: 10.1136/gutjnl-2011-300717. Epub 2012 Jan 20.
14. MicroRNA deregulation in human thyroid papillary carcinomas. Pallante P, etal., Endocr Relat Cancer. 2006 Jun;13(2):497-508. doi: 10.1677/erc.1.01209.
15. miR-221 silencing blocks hepatocellular carcinoma and promotes survival. Park JK, etal., Cancer Res. 2011 Dec 15;71(24):7608-16. doi: 10.1158/0008-5472.CAN-11-1144. Epub 2011 Oct 18.
16. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
17. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
18. MicroRNA-221 regulates FAS-induced fulminant liver failure. Sharma AD, etal., Hepatology. 2011 May;53(5):1651-61. doi: 10.1002/hep.24243. Epub 2011 Mar 11.
19. MicroRNA-31 activates the RAS pathway and functions as an oncogenic MicroRNA in human colorectal cancer by repressing RAS p21 GTPase activating protein 1 (RASA1). Sun D, etal., J Biol Chem. 2013 Mar 29;288(13):9508-18. doi: 10.1074/jbc.M112.367763. Epub 2013 Jan 15.
20. MicroRNA-221/222 Family Counteracts Myocardial Fibrosis in Pressure Overload-Induced Heart Failure. Verjans R, etal., Hypertension. 2018 Feb;71(2):280-288. doi: 10.1161/HYPERTENSIONAHA.117.10094. Epub 2017 Dec 18.
21. Inhibition of MicroRNA-221 Alleviates Neuropathic Pain Through Targeting Suppressor of Cytokine Signaling 1. Xia L, etal., J Mol Neurosci. 2016 Jul;59(3):411-20. doi: 10.1007/s12031-016-0748-1. Epub 2016 Apr 8.
22. miR-221 and miR-222 expression increased the growth and tumorigenesis of oral carcinoma cells. Yang CJ, etal., J Oral Pathol Med. 2011 Aug;40(7):560-6. doi: 10.1111/j.1600-0714.2010.01005.x. Epub 2011 Jan 13.
23. miR-221 and miR-222 promote Schwann cell proliferation and migration by targeting LASS2 after sciatic nerve injury. Yu B, etal., J Cell Sci. 2012 Jun 1;125(Pt 11):2675-83. doi: 10.1242/jcs.098996. Epub 2012 Mar 5.
Additional References at PubMed
PMID:12624257   PMID:15325244   PMID:16330772   PMID:16365291   PMID:16381832   PMID:17569667   PMID:17604727   PMID:17616659   PMID:17721077   PMID:17914108   PMID:18246122   PMID:18382364  
PMID:18413744   PMID:18521080   PMID:18548003   PMID:18708351   PMID:18759060   PMID:18766170   PMID:18794255   PMID:19088079   PMID:19107213   PMID:19109175   PMID:19126397   PMID:19153141  
PMID:19159078   PMID:19351599   PMID:19351832   PMID:19424584   PMID:19464057   PMID:19585579   PMID:19615744   PMID:19671867   PMID:19730150   PMID:19749093   PMID:19767219   PMID:19953484  
PMID:20012062   PMID:20018759   PMID:20110463   PMID:20146005   PMID:20158877   PMID:20167074   PMID:20198336   PMID:20203269   PMID:20299489   PMID:20305142   PMID:20388878   PMID:20417062  
PMID:20428775   PMID:20461750   PMID:20516212   PMID:20547861   PMID:20624000   PMID:20813046   PMID:20818387   PMID:20880178   PMID:20975375   PMID:21037258   PMID:21042732   PMID:21057537  
PMID:21071579   PMID:21076613   PMID:21119596   PMID:21159845   PMID:21236259   PMID:21278784   PMID:21310411   PMID:21378318   PMID:21458843   PMID:21487968   PMID:21538272   PMID:21562054  
PMID:21586237   PMID:21673316   PMID:21706050   PMID:21743492   PMID:21756067   PMID:21868360   PMID:21873159   PMID:22075712   PMID:22117988   PMID:22127852   PMID:22156446   PMID:22272270  
PMID:22275134   PMID:22294051   PMID:22396537   PMID:22466166   PMID:22562984   PMID:22572970   PMID:22613407   PMID:22660186   PMID:22681957   PMID:22685016   PMID:22728346   PMID:22855362  
PMID:22864280   PMID:23023232   PMID:23031797   PMID:23307259   PMID:23320393   PMID:23333386   PMID:23353719   PMID:23372675   PMID:23390134   PMID:23400877   PMID:23444217   PMID:23497354  
PMID:23564792   PMID:23569131   PMID:23579640   PMID:23607629   PMID:23630541   PMID:23648338   PMID:23770133   PMID:23770851   PMID:23776679   PMID:23860376   PMID:23867206   PMID:23895238  
PMID:23944957   PMID:24093444   PMID:24129242   PMID:24147037   PMID:24147153   PMID:24195082   PMID:24269686   PMID:24286315   PMID:24295494   PMID:24319365   PMID:24324033   PMID:24409057  
PMID:24412053   PMID:24475314   PMID:24607843   PMID:24643689   PMID:24667259   PMID:24674454   PMID:24718706   PMID:24736554   PMID:24760272   PMID:24832085   PMID:24892674   PMID:24905916  
PMID:24913549   PMID:24969479   PMID:24993451   PMID:25007959   PMID:25019494   PMID:25053875   PMID:25190021   PMID:25233396   PMID:25236949   PMID:25279769   PMID:25428536   PMID:25430553  
PMID:25433287   PMID:25447917   PMID:25483016   PMID:25585941   PMID:25586265   PMID:25686829   PMID:25731730   PMID:25738598   PMID:25761682   PMID:25865302   PMID:25883224   PMID:25891943  
PMID:25893733   PMID:25898773   PMID:25910754   PMID:25928257   PMID:26106610   PMID:26117405   PMID:26164758   PMID:26186233   PMID:26191177   PMID:26191221   PMID:26197878   PMID:26209976  
PMID:26249174   PMID:26253160   PMID:26325107   PMID:26364844   PMID:26397386   PMID:26422796   PMID:26464363   PMID:26482612   PMID:26501139   PMID:26503209   PMID:26527748   PMID:26556862  
PMID:26571175   PMID:26637460   PMID:26646931   PMID:26708164   PMID:26772615   PMID:26788506   PMID:26806834   PMID:26827795   PMID:26831656   PMID:26930142   PMID:26990535   PMID:26997108  
PMID:27035337   PMID:27174021   PMID:27230035   PMID:27358112   PMID:27374153   PMID:27420990   PMID:27427222   PMID:27488105   PMID:27513632   PMID:27542224   PMID:27629767   PMID:27644883  
PMID:27712596   PMID:27748571   PMID:27780851   PMID:27798914   PMID:27834806   PMID:27835701   PMID:27837435   PMID:27940575   PMID:27983537   PMID:28003306   PMID:28057486   PMID:28061868  
PMID:28111007   PMID:28191469   PMID:28236026   PMID:28366737   PMID:28392366   PMID:28431233   PMID:28434388   PMID:28442344   PMID:28453462   PMID:28519068   PMID:28539268   PMID:28576513  
PMID:28618968   PMID:28628920   PMID:28677788   PMID:28774868   PMID:28798470   PMID:28844858   PMID:28886115   PMID:28938482   PMID:28978468   PMID:28986522   PMID:29036829   PMID:29120535  
PMID:29172404   PMID:29181884   PMID:29301198   PMID:29474925   PMID:29476051   PMID:29479893   PMID:29506516   PMID:29529124   PMID:29596155   PMID:29630521   PMID:29644894   PMID:29666964  
PMID:29729889   PMID:29737876   PMID:29754884   PMID:29789601   PMID:29843209   PMID:29876362   PMID:29894779   PMID:30015977   PMID:30024497   PMID:30053090   PMID:30115076   PMID:30130742  
PMID:30254211   PMID:30274025   PMID:30378307   PMID:30396069   PMID:30396237   PMID:30485259   PMID:30516071   PMID:30551723   PMID:30551873   PMID:30582227   PMID:30582979   PMID:30654657  
PMID:30688676   PMID:30816673   PMID:30887564   PMID:30891072   PMID:30911942   PMID:30926320   PMID:31045265   PMID:31069760   PMID:31084400   PMID:31106423   PMID:31114989   PMID:31115025  
PMID:31173294   PMID:31180541   PMID:31211948   PMID:31214616   PMID:31221814   PMID:31238903   PMID:31307177   PMID:31341019   PMID:31416845   PMID:31422498   PMID:31470827   PMID:31486498  
PMID:31514066   PMID:31550968   PMID:31569377   PMID:31570425   PMID:31607285   PMID:31828111   PMID:31828133   PMID:31839741   PMID:31868204   PMID:31899608   PMID:31926502   PMID:32096156  
PMID:32304915   PMID:32319375   PMID:32319611   PMID:32487621   PMID:32590883   PMID:32605321   PMID:32681442   PMID:32681842   PMID:32777750   PMID:32873879   PMID:32902755   PMID:32926967  
PMID:33023393   PMID:33040800   PMID:33075494   PMID:33131925   PMID:33201565   PMID:33285691   PMID:33402480   PMID:33420414   PMID:33566260   PMID:33607184   PMID:33694202   PMID:33803955  
PMID:33845800   PMID:33856606   PMID:33919884   PMID:33955508   PMID:34091460   PMID:34097306   PMID:34098850   PMID:34125460   PMID:34130294   PMID:34357372   PMID:34382727   PMID:34388111  
PMID:34508764   PMID:34516316   PMID:34547134   PMID:34582697   PMID:34699986   PMID:34874225   PMID:34899681   PMID:34905088   PMID:34946928   PMID:34972164   PMID:34973299   PMID:35039938  
PMID:35257310   PMID:35289984   PMID:35297352   PMID:35371339   PMID:35398161   PMID:35473687   PMID:35734966   PMID:35818240   PMID:35975537   PMID:36119928   PMID:36219614   PMID:36432575  
PMID:36833430   PMID:37272651   PMID:37283359   PMID:37369478   PMID:37496996   PMID:37525394   PMID:37737255   PMID:37831346   PMID:37913711   PMID:37991262   PMID:38139440   PMID:38267567  
PMID:38310615   PMID:38461326   PMID:39060046  


Genomics

Comparative Map Data
MIR221
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X45,746,157 - 45,746,266 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX45,746,157 - 45,746,266 (-)EnsemblGRCh38hg38GRCh38
GRCh37X45,605,585 - 45,605,694 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X45,490,528 - 45,490,637 (-)NCBINCBI36Build 36hg18NCBI36
CeleraX49,797,482 - 49,797,591 (-)NCBICelera
Cytogenetic MapXp11.3NCBI
HuRefX43,320,976 - 43,321,084 (-)NCBIHuRef
CHM1_1X45,638,042 - 45,638,151 (-)NCBICHM1_1
T2T-CHM13v2.0X45,155,612 - 45,155,721 (-)NCBIT2T-CHM13v2.0
Mir221
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X19,012,533 - 19,012,627 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX19,012,533 - 19,012,627 (-)EnsemblGRCm39 Ensembl
GRCm38X19,146,294 - 19,146,388 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX19,146,294 - 19,146,388 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X18,723,420 - 18,723,514 (-)NCBIGRCm37MGSCv37mm9NCBIm37
CeleraX16,722,452 - 16,722,546 (-)NCBICelera
Cytogenetic MapXA1.3NCBI
cM MapX14.52NCBI
Mir221
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X6,023,182 - 6,023,290 (+)NCBIGRCr8
mRatBN7.2X3,429,465 - 3,429,573 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX3,429,465 - 3,429,573 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX3,495,164 - 3,495,272 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X6,970,960 - 6,971,068 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X3,288,051 - 3,288,159 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X3,684,480 - 3,684,588 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX3,684,480 - 3,684,588 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X4,475,295 - 4,475,403 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
CeleraX3,969,242 - 3,969,350 (+)NCBICelera
Cytogenetic MapXq11NCBI
MIR221
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X39,523,890 - 39,523,951 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX39,523,885 - 39,523,954 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX26,756,912 - 26,756,973 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X39,655,841 - 39,655,902 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1X39,646,201 - 39,646,262 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X39,633,218 - 39,633,279 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X39,725,537 - 39,725,598 (-)NCBIUU_Cfam_GSD_1.0
MIR221
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX40,571,068 - 40,571,137 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X40,571,068 - 40,571,137 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X45,274,873 - 45,274,942 (-)NCBISscrofa10.2Sscrofa10.2susScr3


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 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: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)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: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: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 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3		 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 Xp22.33-11.23(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: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 Xp22.33-11.21(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 Xp22.33-11.21(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-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 Xp22.33-11.1(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 Xp22.33-11.21(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-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 Xp22.33-11.22(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
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
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)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: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: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)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-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
NC_000023.10:g.(?_43479884)_(46741003_?)del deletion Kabuki syndrome 2 [RCV000172943] ChrX:43479884..46741003 [GRCh37]
ChrX:Xp11.3-11.23		 likely 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 Xp22.33-11.23(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-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: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-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 Xp22.33-11.21(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 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: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: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-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 Xp11.3(chrX:45555332-46436439)x2 copy number gain See cases [RCV000135948] ChrX:45555332..46436439 [GRCh38]
ChrX:45414577..46295874 [GRCh37]
ChrX:45299521..46180818 [NCBI36]
ChrX:Xp11.3		 uncertain significance
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 Xp22.33-11.22(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: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 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 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-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-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-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 Xp22.33-11.1(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-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 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-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 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 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 Xp22.33-11.22(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: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 Xp22.33-11.21(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: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-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
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
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 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [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:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [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:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [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: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 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:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [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: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 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25		 uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-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: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 Xp22.33-11.21(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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [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:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..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: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: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 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(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 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1		 pathogenic
GRCh37/hg19 Xp11.4-11.23(chrX:41150139-46528262)x1 copy number loss See cases [RCV000511364] ChrX:41150139..46528262 [GRCh37]
ChrX:Xp11.4-11.23		 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 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 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 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-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
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23		 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 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
GRCh37/hg19 Xp11.3(chrX:45179191-45726868)x3 copy number gain not provided [RCV000753526] ChrX:45179191..45726868 [GRCh37]
ChrX:Xp11.3		 benign
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-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)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [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
NC_000023.11:g.(?_44209146)_(46109507_?)del deletion Autism [RCV000754372] ChrX:44209146..46109507 [GRCh38]
ChrX:Xp11.3		 likely 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
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
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
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 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22		 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
NC_000023.10:g.(?_45605561)_(46952346_?)del deletion not provided [RCV001031576] ChrX:45605561..46952346 [GRCh37]
ChrX:Xp11.3-11.23		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23		 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)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 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-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1		 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 Xp11.3-11.23(chrX:44879855-46541970)x1 copy number loss not provided [RCV001531177] ChrX:44879855..46541970 [GRCh37]
ChrX:Xp11.3-11.23		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.4-11.3(chrX:42069104-45843277)x1 copy number loss not provided [RCV001537898] ChrX:42069104..45843277 [GRCh37]
ChrX:Xp11.4-11.3		 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
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)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 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
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:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
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 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 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 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 Xp11.4-11.23(chrX:42046069-46491183)x0 copy number loss not provided [RCV003485371] ChrX:42046069..46491183 [GRCh37]
ChrX:Xp11.4-11.23		 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 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 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
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
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 copy number gain Klinefelter syndrome [RCV004579655] ChrX:2757837..156030895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
miRNA Target Status

Confirmed Targets
Gene TargetMature miRNAMethod NameResult TypeData TypeSupport TypePMID
CDKN1Bhsa-miR-221-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blot//Northern Functional MTI17569667
CDKN1Bhsa-miR-221-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI19088079
CDKN1Bhsa-miR-221-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI18155131
CDKN1Bhsa-miR-221-3pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blotFunctional MTI19153141
CDKN1Bhsa-miR-221-3pMirtarbaseexternal_infoWestern blot//Northern blotFunctional MTI19107213
CDKN1Bhsa-miR-221-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI19859555
CDKN1Bhsa-miR-221-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI18246122
CDKN1Bhsa-miR-221-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19150885
CDKN1Bhsa-miR-221-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI18521080
CDKN1Bhsa-miR-221-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI18834855
CDKN1Bhsa-miR-221-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI18983236
CDKN1Bhsa-miR-221-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19749093
CDKN1Bhsa-miR-221-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI18417445
CDKN1Bhsa-miR-221-3pMirtarbaseexternal_infoimmunohistochemistry//Microarray//qRT-PCRFunctional MTI (Weak)20012062
CDKN1Bhsa-miR-221-3pMirtarbaseexternal_infoNorthern blot//qRT-PCR//Western blotFunctional MTI20018759
CDKN1Bhsa-miR-221-3pMirtarbaseexternal_infoImmunohistochemistry//In situ hybridization//LucifFunctional MTI19424584
CDKN1Bhsa-miR-221-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blot//Functional MTI17721077
CDKN1Bhsa-miR-221-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI17627278
CDKN1Bhsa-miR-221-3pMirtarbaseexternal_infoqRT-PCR//Western blotFunctional MTI18708351
CDKN1Bhsa-miR-221-3pMirtarbaseexternal_infoSequencingFunctional MTI (Weak)20371350
CDKN1Bhsa-miR-221-3pMirtarbaseexternal_infoReporter assayFunctional MTI17914108
CDKN1Bhsa-miR-221-3pMirtarbaseexternal_infoReporter assayFunctional MTI18413744
BCL2L11hsa-miR-221-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248
BMFhsa-miR-221-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI19671867
FOXO3hsa-miR-221-3pMirtarbaseexternal_infoqRT-PCR//ChIP//Luciferase reporter assay//Western Functional MTI20388878
DICER1hsa-miR-221-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI21761362
KIThsa-miR-221-3pMirtarbaseexternal_infoqRT-PCR//Western blotFunctional MTI19126397
KIThsa-miR-221-3pMirtarbaseexternal_infoqRT-PCR//Western blotFunctional MTI18417445
KIThsa-miR-221-3pMirtarbaseexternal_infoNorthern blot//qRT-PCR//Western blotFunctional MTI16365291
KIThsa-miR-221-3pMirtarbaseexternal_infoReporter assay;MicroarrayFunctional MTI20018759
KIThsa-miR-221-3pMirtarbaseexternal_infoReporter assayFunctional MTI16330772
CDKN1Chsa-miR-221-3pMirtarbaseexternal_infoReporter assay//Luciferase reporter assay//qRT-PCRFunctional MTI18521080
CDKN1Chsa-miR-221-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI21278784
TMED7hsa-miR-221-3pMirtarbaseexternal_infoWestern blotFunctional MTI21226887
TMED7hsa-miR-221-3pMirtarbaseexternal_infoReporter assay;qRT-PCRFunctional MTI20018759
HMGXB4hsa-miR-221-3pMirtarbaseexternal_infoReporter assay;MicroarrayNon-Functional MTI20018759
BBC3hsa-miR-221-3pMirtarbaseexternal_infoImmunohistochemistry//In situ hybridization//LucifFunctional MTI20813046
TBK1hsa-miR-221-3pMirtarbaseexternal_infoReporter assay;Western blot;MicroarrayFunctional MTI20018759
BNIP3Lhsa-miR-221-3pMirtarbaseexternal_infoReporter assay;Western blot;qRT-PCR;MicroarrayFunctional MTI20018759
DDIT4hsa-miR-221-3pMirtarbaseexternal_infoLuciferase reporter assay//Microarray//qRT-PCR//WeFunctional MTI20018759
TIMP3hsa-miR-221-3pMirtarbaseexternal_infoFlow//Immunohistochemistry//Luciferase reporter asFunctional MTI19962668
TIMP3hsa-miR-221-3pMirtarbaseexternal_infoImmunohistochemistry//In situ hybridization//qRT-PFunctional MTI22009755
TIMP3hsa-miR-221-3pMirtarbaseexternal_infoELISA//Luciferase reporter assay//qRT-PCR//WesternFunctional MTI22681957
TNFSF10hsa-miR-221-3pMirtarbaseexternal_infoWestern blotFunctional MTI18246122
ICAM1hsa-miR-221-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI20110463
ICAM1hsa-miR-221-3pMirtarbaseexternal_infoLuciferase reporter assayNon-Functional MTI19949084
FOShsa-miR-221-3pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blot//Functional MTI20299489
FOShsa-miR-221-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23400877
NAIPhsa-miR-221-3pMirtarbaseexternal_infoWestern blotFunctional MTI18759060
ESR1hsa-miR-221-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI18790736
TICAM1hsa-miR-221-3pMirtarbaseexternal_infoLuciferase reporter assay//Northern blot//qRT-PCR/Functional MTI21236259
PTENhsa-miR-221-3pMirtarbaseexternal_infoFACS//Flow//Luciferase reporter assay//Northern blFunctional MTI20618998
PTENhsa-miR-221-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23372675
TP53hsa-miR-221-3pMirtarbaseexternal_infoWestern blotNon-Functional MTI21226887
CERS2hsa-miR-221-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI22393241
FMR1hsa-miR-221-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23390134
DVL2hsa-miR-221-3pMirtarbaseexternal_infoWestern blot;qRT-PCRFunctional MTI21487968
POU3F2hsa-miR-221-3pMirtarbaseexternal_infoqRT-PCRNon-Functional MTI (Weak)20516212
MEOX2hsa-miR-221-3pMirtarbaseexternal_infoWestern blot;qRT-PCRFunctional MTI20516212
ZEB2hsa-miR-221-3pMirtarbaseexternal_infoReporter assay;Western blot;qRT-PCRFunctional MTI20516212
CDKN1Bhsa-miR-221-3pTarbaseexternal_infoReporter GenePOSITIVE
CDKN1Bhsa-miR-221-3pTarbaseexternal_infoNothernblot POSITIVE
CDKN1Bhsa-miR-221-3pTarbaseexternal_infoWesternblitPOSITIVE
HOXC10hsa-miR-221-3pTarbaseexternal_infoqPCRNEGATIVE
BRAPhsa-miR-221-3pTarbaseexternal_infoReporter GeneNEGATIVE
BRAPhsa-miR-221-3pTarbaseexternal_infoMicroarrayPOSITIVE
DDIT4hsa-miR-221-3pTarbaseexternal_infoqPCRPOSITIVE
ZKSCAN8hsa-miR-221-3pTarbaseexternal_infoSequencingPOSITIVE
FOShsa-miR-221-3pOncomiRDBexternal_infoNANA23400877
TIMP3hsa-miR-221-3pOncomiRDBexternal_infoNANA22681957
GJA1hsa-miR-221-3pOncomiRDBexternal_infoNANA22294051
APAF1hsa-miR-221-3pOncomiRDBexternal_infoNANA22157681
TIMP3hsa-miR-221-3pOncomiRDBexternal_infoNANA22009755
TRPS1hsa-miR-221-3pOncomiRDBexternal_infoNANA21868360
DICER1hsa-miR-221-3pOncomiRDBexternal_infoNANA21761362
PTPRMhsa-miR-221-3pOncomiRDBexternal_infoNANA21743492
TRPS1hsa-miR-221-3pOncomiRDBexternal_infoNANA21673316
CDKN1Chsa-miR-221-3pOncomiRDBexternal_infoNANA21278784
DIRAS3hsa-miR-221-3pOncomiRDBexternal_infoNANA21071579
BBC3hsa-miR-221-3pOncomiRDBexternal_infoNANA21042732
BBC3hsa-miR-221-3pOncomiRDBexternal_infoNANA20813046
PTENhsa-miR-221-3pOncomiRDBexternal_infoNANA20618998
FOXO3hsa-miR-221-3pOncomiRDBexternal_infoNANA20388878
DDIT4hsa-miR-221-3pOncomiRDBexternal_infoNANA20018759
PTENhsa-miR-221-3pOncomiRDBexternal_infoNANA19962668
CDKN1Bhsa-miR-221-3pOncomiRDBexternal_infoNANA19749093
BMFhsa-miR-221-3pOncomiRDBexternal_infoNANA19671867
CDKN1Bhsa-miR-221-3pOncomiRDBexternal_infoNANA21475881
CDKN1Ahsa-miR-221-3pOncomiRDBexternal_infoNANA19153141
KIThsa-miR-221-3pOncomiRDBexternal_infoNANA19126397
ESR1hsa-miR-221-3pOncomiRDBexternal_infoNANA18790736
CDKN1Bhsa-miR-221-3pOncomiRDBexternal_infoNANA18708351
CDKN1Chsa-miR-221-3pOncomiRDBexternal_infoNANA18521080
CDKN1Bhsa-miR-221-3pOncomiRDBexternal_infoNANA18417445
KIThsa-miR-221-3pOncomiRDBexternal_infoNANA18246122
CDKN1Bhsa-miR-221-3pOncomiRDBexternal_infoNANA17914108
CDKN1Bhsa-miR-221-3pOncomiRDBexternal_infoNANA17721077
CDKN1Bhsa-miR-221-3pOncomiRDBexternal_infoNANA17627278
CDKN1Bhsa-miR-221-3pOncomiRDBexternal_infoNANA17569667
KIThsa-miR-221-3pOncomiRDBexternal_infoNANA16330772
SGSM1hsa-miR-221-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248
KIThsa-miR-221-5pMirecordsexternal_info{unchanged}NA16330772
CDKN1Bhsa-miR-221-5pMirecordsexternal_infoNANA18155131
CDKN1Bhsa-miR-221-5pMirecordsexternal_infoNANA17721077
CDKN1Bhsa-miR-221-5pMirecordsexternal_infoNANA18413744
CDKN1Bhsa-miR-221-5pMirecordsexternal_info{unchanged}NA18417445
CDKN1Bhsa-miR-221-5pMirecordsexternal_info{changed}NA17569667
CDKN1Bhsa-miR-221-5pMirecordsexternal_info{unchanged}NA17627278
CDKN1Chsa-miR-221-5pMirecordsexternal_infoNANA18521080
ESR1hsa-miR-221-5pMirecordsexternal_info{unchanged}NA18790736
CDKN1Bhsa-miR-221-5pMirecordsexternal_info{changed}NA18708351
CDKN1Bhsa-miR-221-5pMirecordsexternal_infoNANA19107213
KIThsa-miR-221-5pMirecordsexternal_infoNANA19126397
FOShsa-miR-221-5pMirecordsexternal_infoNANA20299489
DDIT4hsa-miR-221-5pMirecordsexternal_info{changed}NA20018759
ICAM1hsa-miR-221-5pMirecordsexternal_info{unchanged}NA20110463
BMFhsa-miR-221-5pMirecordsexternal_info{unchanged}NA19671867
PIK3R1hsa-miR-221-5pMirecordsexternal_info{changed}NA20505758
PTENhsa-miR-221-5pMirecordsexternal_infoNANA20618998
CDKN1Chsa-miR-221-5pMirecordsexternal_infoNANA21226887
TIMP3hsa-miR-221-5pMirecordsexternal_info{changed}NA22009755

Predicted Targets
Summary Value
Count of predictions:42812
Count of gene targets:16481
Count of transcripts:35588
Interacting mature miRNAs:hsa-miR-221-3p, hsa-miR-221-5p
Prediction methods:Microtar, Miranda, Pita, Pita,Targetscan, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression

RNA-SEQ Expression

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
renal system
reproductive system
respiratory system
sensory system
902 1829 1922 1580 2752 892 1673 4 317 1262 172 1973 4577 4511 50 1613 661 1126 1268 157

Sequence


Ensembl Acc Id: ENST00000385135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX45,746,157 - 45,746,266 (-)Ensembl
RefSeq Acc Id: NR_029635
RefSeq Status: PROVISIONAL
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X45,746,157 - 45,746,266 (-)NCBI
GRCh37X45,605,585 - 45,605,694 (-)ENTREZGENE
HuRefX43,320,976 - 43,321,084 (-)ENTREZGENE
CHM1_1X45,638,042 - 45,638,151 (-)NCBI
T2T-CHM13v2.0X45,155,612 - 45,155,721 (-)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:31601 AgrOrtholog
COSMIC MIR221 COSMIC
Ensembl Genes ENSG00000207870 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000385135 ENTREZGENE
GTEx ENSG00000207870 GTEx
HGNC ID HGNC:31601 ENTREZGENE
Human Proteome Map MIR221 Human Proteome Map
miRBase MI0000298 ENTREZGENE
NCBI Gene 407006 ENTREZGENE
OMIM 300568 OMIM
PharmGKB PA164722609 PharmGKB
RNAcentral URS0000170CF4 RNACentral
  URS0000245997 RNACentral
  URS0000593537 RNACentral