MIR222 (microRNA 222) - Rat Genome Database

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Gene: MIR222 (microRNA 222) Homo sapiens
Analyze
Symbol: MIR222
Name: microRNA 222
RGD ID: 1352986
HGNC Page HGNC:31602
Description: Enables mRNA base-pairing translational repressor activity. Involved in several processes, including negative regulation of gene expression; positive regulation of intracellular signal transduction; and regulation of hemopoiesis. Located in extracellular space. Part of extracellular vesicle. Implicated in colorectal cancer; gastrointestinal stromal tumor; lung cancer; and oral squamous cell carcinoma. Biomarker of carcinoma (multiple); gastrointestinal system cancer (multiple); non-alcoholic steatohepatitis; and polycystic ovary syndrome.
Type: ncrna
RefSeq Status: PROVISIONAL
Previously known as: mir-222; MIRN222; miRNA222
RGD Orthologs
Mouse
Rat
Dog
Pig
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X45,747,015 - 45,747,124 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 EnsemblX45,747,015 - 45,747,124 (-)EnsemblGRCh38hg38GRCh38
GRCh37X45,606,421 - 45,606,530 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X45,491,364 - 45,491,473 (-)NCBINCBI36Build 36hg18NCBI36
CeleraX49,798,348 - 49,798,457 (-)NCBICelera
Cytogenetic MapXp11.3NCBI
HuRefX43,321,845 - 43,321,954 (-)NCBIHuRef
CHM1_1X45,638,880 - 45,638,989 (-)NCBICHM1_1
T2T-CHM13v2.0X45,156,474 - 45,156,583 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
angiogenesis involved in wound healing  (ISO)
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 hypoxia  (ISO)
cellular response to inorganic substance  (ISO)
cellular response to nerve growth factor stimulus  (ISO)
cellular response to polyamine macromolecule  (ISO)
cellular response to tumor necrosis factor  (ISO)
lactation  (ISO)
long-term synaptic potentiation  (ISO)
mesenchymal cell differentiation involved in bone development  (ISO)
miRNA-mediated gene silencing  (IDA,IGI,IMP)
miRNA-mediated gene silencing by inhibition of translation  (IDA)
negative regulation by host of viral genome replication  (ISS)
negative regulation of angiogenesis  (IDA)
negative regulation of apoptotic process  (IDA)
negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis  (IDA)
negative regulation of cardiac muscle cell apoptotic process  (ISO)
negative regulation of cardiac muscle cell differentiation  (ISS)
negative regulation of cell adhesion molecule production  (IGI)
negative regulation of cytokine production involved in inflammatory response  (ISS)
negative regulation of epithelial cell migration  (ISO)
negative regulation of epithelial cell proliferation  (ISO)
negative regulation of gene expression  (ISO)
negative regulation of hematopoietic stem cell proliferation  (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 neuron apoptotic process  (ISO)
negative regulation of ossification  (ISO)
negative regulation of osteoblast differentiation  (ISO)
negative regulation of progesterone secretion  (ISO)
negative regulation of TRAIL-activated apoptotic signaling pathway  (IDA,IMP)
negative regulation of wound healing  (ISO)
positive regulation of autophagy  (ISO)
positive regulation of axon regeneration  (ISS)
positive regulation of cardiac muscle cell proliferation  (ISO,ISS)
positive regulation of cell size  (ISO)
positive regulation of dendrite extension  (ISO)
positive regulation of epithelial cell apoptotic process  (ISO)
positive regulation of epithelial cell migration  (IGI)
positive regulation of epithelial to mesenchymal transition  (IGI)
positive regulation of ERK1 and ERK2 cascade  (IDA)
positive regulation of erythrocyte differentiation  (IDA)
positive regulation of estradiol secretion  (ISO)
positive regulation of follicle-stimulating hormone secretion  (ISO)
positive regulation of G1/S transition of mitotic cell cycle  (IDA)
positive regulation of luteinizing hormone secretion  (ISO)
positive regulation of prolactin secretion  (ISO)
positive regulation of protein kinase B signaling  (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 testosterone secretion  (ISO)
positive regulation of vascular associated smooth muscle cell proliferation  (ISO,ISS)
response to ischemia  (ISO)
response to nutrient levels  (ISO)
response to oxygen levels  (ISO)
response to xenobiotic stimulus  (ISO)
sensory perception of sound  (ISO)
Wnt signaling pathway  (ISO)

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. Acupuncture protects the interstitial cells of Cajal by regulating miR-222 in a rat model of post-operative ileus. Deng JJ, etal., Acupunct Med. 2019 Apr;37(2):125-132. doi: 10.1177/0964528419829755. Epub 2019 Mar 11.
2. 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.
3. 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.
4. Inhibition of microRNA-222 up-regulates TIMP3 to promotes osteogenic differentiation of MSCs from fracture rats with type 2 diabetes mellitus. Jiang C, etal., J Cell Mol Med. 2020 Jan;24(1):686-694. doi: 10.1111/jcmm.14777. Epub 2019 Nov 6.
5. 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.
6. 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.
7. Altered microRNA regulation in Huntington's disease models. Lee ST, etal., Exp Neurol. 2011 Jan;227(1):172-9. doi: 10.1016/j.expneurol.2010.10.012. Epub 2010 Oct 28.
8. Negative correlation of cytoplasm TIMP3 with miR-222 indicates a good prognosis for NSCLC. Lei Y, etal., Onco Targets Ther. 2018 Sep 6;11:5551-5557. doi: 10.2147/OTT.S172522. eCollection 2018.
9. lncRNA GAS5 Inhibits Cell Migration and Invasion and Promotes Autophagy by Targeting miR-222-3p via the GAS5/PTEN-Signaling Pathway in CRC. Liu L, etal., Mol Ther Nucleic Acids. 2019 Sep 6;17:644-656. doi: 10.1016/j.omtn.2019.06.009. Epub 2019 Jun 27.
10. 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.
11. miR-222 is necessary for exercise-induced cardiac growth and protects against pathological cardiac remodeling. Liu X, etal., Cell Metab. 2015 Apr 7;21(4):584-95. doi: 10.1016/j.cmet.2015.02.014.
12. MicroRNA-222 expression and its prognostic potential in non-small cell lung cancer. Mao KP, etal., ScientificWorldJournal. 2014;2014:908326. doi: 10.1155/2014/908326. Epub 2014 Apr 13.
13. Upregulation of miR-222 in both Helicobacter pylori- infected and noninfected gastric cancer patients. Noormohammad M, etal., J Genet. 2016 Dec;95(4):991-995. doi: 10.1007/s12041-016-0728-9.
14. Serum microRNA profiles as prognostic/predictive markers in the multimodality therapy of locally advanced adenocarcinomas of the gastroesophageal junction. Odenthal M, etal., Int J Cancer. 2015 Jul 1;137(1):230-7. doi: 10.1002/ijc.29363. Epub 2014 Dec 3.
15. 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.
16. 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.
17. The rs17084733 variant in the KIT 3' UTR disrupts a miR-221/222 binding site in gastrointestinal stromal tumour: a sponge-like mechanism conferring disease susceptibility. Ravegnini G, etal., Epigenetics. 2019 Jun;14(6):545-557. doi: 10.1080/15592294.2019.1595997. Epub 2019 Apr 13.
18. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
19. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
20. Cardiac-Specific Overexpression of miR-222 Induces Heart Failure and Inhibits Autophagy in Mice. Su M, etal., Cell Physiol Biochem. 2016;39(4):1503-11. doi: 10.1159/000447853. Epub 2016 Sep 12.
21. MicroRNA-222-3p associated with Helicobacter pylori targets HIPK2 to promote cell proliferation, invasion, and inhibits apoptosis in gastric cancer. Tan X, etal., J Cell Biochem. 2018 Jul;119(7):5153-5162. doi: 10.1002/jcb.26542. Epub 2018 Mar 25.
22. 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.
23. Role and mechanism of miR-222 in arsenic-transformed cells for inducing tumor growth. Wang M, etal., Oncotarget. 2016 Apr 5;7(14):17805-14. doi: 10.18632/oncotarget.7525.
24. MiR-222 overexpression confers cell migratory advantages in hepatocellular carcinoma through enhancing AKT signaling. Wong QW, etal., Clin Cancer Res. 2010 Feb 1;16(3):867-75. doi: 10.1158/1078-0432.CCR-09-1840. Epub 2010 Jan 26.
25. microRNA-222 promotes tumor growth and confers radioresistance in nasopharyngeal carcinoma by targeting PTEN. Wu W, etal., Mol Med Rep. 2018 Jan;17(1):1305-1310. doi: 10.3892/mmr.2017.7931. Epub 2017 Oct 31.
26. 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.
27. MicroRNA-222-3p participates in the development of oral squamous cell carcinoma by targeting CDKN1B. Yang K, etal., J Oral Pathol Med. 2020 Aug;49(7):621-629. doi: 10.1111/jop.12986. Epub 2020 Mar 1.
28. Panax notoginseng saponins attenuate lung cancer growth in part through modulating the level of Met/miR-222 axis. Yang Q, etal., J Ethnopharmacol. 2016 Dec 4;193:255-265. doi: 10.1016/j.jep.2016.08.040. Epub 2016 Aug 24.
29. Downregulation of MicroRNA-222 Reduces Insulin Resistance in Rats with PCOS by Inhibiting Activation of the MAPK/ERK Pathway via Pten. Ye H, etal., Mol Ther Nucleic Acids. 2020 Jul 10;22:733-741. doi: 10.1016/j.omtn.2020.07.014. eCollection 2020 Dec 4.
30. Inhibition of microRNA-222 expression accelerates bone healing with enhancement of osteogenesis, chondrogenesis, and angiogenesis in a rat refractory fracture model. Yoshizuka M, etal., J Orthop Sci. 2016 Nov;21(6):852-858. doi: 10.1016/j.jos.2016.07.021. Epub 2016 Aug 18.
31. 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.
32. [Expression of serum microRNAs (miR-222, miR-181, miR-216) in human hepatocellular carcinoma and its clinical significance]. Zhan MX, etal., Zhonghua Yi Xue Za Zhi. 2013 Jun 18;93(23):1830-2.
33. The alteration of miR-222 and its target genes in nickel-induced tumor. Zhang J, etal., Biol Trace Elem Res. 2013 May;152(2):267-74. doi: 10.1007/s12011-013-9619-6. Epub 2013 Feb 28.
34. Neuroimmune modulation following traumatic stress in rats: evidence for an immunoregulatory cascade mediated by c-Src, miRNA222 and PAK1. Zhao H, etal., J Neuroinflammation. 2011 Nov 14;8:159. doi: 10.1186/1742-2094-8-159.
35. miR-222 regulates cell growth, apoptosis, and autophagy of interstitial cells of Cajal isolated from slow transit constipation rats by targeting c-kit. Zheng H, etal., Indian J Gastroenterol. 2021 Apr;40(2):198-208. doi: 10.1007/s12664-020-01143-7. Epub 2021 Apr 1.
36. MiR-21 and miR-222 inhibit apoptosis of adult dorsal root ganglion neurons by repressing TIMP3 following sciatic nerve injury. Zhou S, etal., Neurosci Lett. 2015 Jan 23;586:43-9. doi: 10.1016/j.neulet.2014.12.006. Epub 2014 Dec 4.
Additional References at PubMed
PMID:12624257   PMID:15183728   PMID:15325244   PMID:16330772   PMID:16381832   PMID:17569667   PMID:17604727   PMID:17616659   PMID:17721077   PMID:17914108   PMID:18246122   PMID:18413744  
PMID:18708351   PMID:18766170   PMID:19107213   PMID:19109175   PMID:19153141   PMID:19351832   PMID:19464057   PMID:19487542   PMID:19520829   PMID:19551852   PMID:19589872   PMID:19615744  
PMID:19883312   PMID:19953484   PMID:19962668   PMID:20012062   PMID:20167074   PMID:20198336   PMID:20203269   PMID:20299489   PMID:20305142   PMID:20388878   PMID:20417062   PMID:20428775  
PMID:20461750   PMID:20489169   PMID:20504344   PMID:20624000   PMID:20813046   PMID:20818387   PMID:20857258   PMID:21037258   PMID:21042732   PMID:21057537   PMID:21071579   PMID:21076613  
PMID:21310411   PMID:21537871   PMID:21586237   PMID:21656127   PMID:21673316   PMID:21706050   PMID:21711453   PMID:21743492   PMID:21756067   PMID:21761362   PMID:21868360   PMID:21873159  
PMID:22075712   PMID:22117988   PMID:22127852   PMID:22294051   PMID:22321642   PMID:22351693   PMID:22562984   PMID:22677042   PMID:22681957   PMID:22685016   PMID:22854542   PMID:23023232  
PMID:23312020   PMID:23353719   PMID:23400877   PMID:23497354   PMID:23522449   PMID:23648338   PMID:23770851   PMID:23776679   PMID:23895238   PMID:23912551   PMID:23969726   PMID:23994196  
PMID:24026657   PMID:24129242   PMID:24147153   PMID:24295494   PMID:24301304   PMID:24412053   PMID:24452416   PMID:24498137   PMID:24601884   PMID:24643689   PMID:24674454   PMID:24736554  
PMID:24740415   PMID:24802714   PMID:24832085   PMID:24892674   PMID:25007959   PMID:25078265   PMID:25129310   PMID:25236949   PMID:25238119   PMID:25260533   PMID:25428536   PMID:25444921  
PMID:25474084   PMID:25544772   PMID:25562151   PMID:25731730   PMID:25819770   PMID:25883224   PMID:25893733   PMID:25898773   PMID:26045994   PMID:26081516   PMID:26106610   PMID:26117405  
PMID:26134418   PMID:26164758   PMID:26186233   PMID:26249174   PMID:26364844   PMID:26370254   PMID:26420065   PMID:26432333   PMID:26464363   PMID:26517090   PMID:26527748   PMID:26646931  
PMID:26689540   PMID:26708164   PMID:26800397   PMID:26809090   PMID:26812693   PMID:26844700   PMID:26864161   PMID:26912358   PMID:27044817   PMID:27172798   PMID:27282281   PMID:27353001  
PMID:27358112   PMID:27420990   PMID:27488105   PMID:27602961   PMID:27629767   PMID:27644883   PMID:27746366   PMID:27762728   PMID:27811362   PMID:27834806   PMID:27855613   PMID:28061868  
PMID:28127557   PMID:28164621   PMID:28277192   PMID:28431233   PMID:28618968   PMID:28743280   PMID:28798470   PMID:28849039   PMID:28886115   PMID:28968466   PMID:28978468   PMID:28981911  
PMID:28986522   PMID:29037553   PMID:29098549   PMID:29102598   PMID:29120535   PMID:29181884   PMID:29230236   PMID:29263133   PMID:29301198   PMID:29658663   PMID:29666964   PMID:29679553  
PMID:29737876   PMID:29739090   PMID:29771442   PMID:29778754   PMID:29789601   PMID:29843209   PMID:29844486   PMID:29882471   PMID:29894779   PMID:30053090   PMID:30115076   PMID:30257964  
PMID:30320376   PMID:30396237   PMID:30458449   PMID:30603956   PMID:30649922   PMID:30718101   PMID:30775882   PMID:30887564   PMID:30904920   PMID:30984546   PMID:31034165   PMID:31106423  
PMID:31114989   PMID:31126802   PMID:31232941   PMID:31244320   PMID:31273056   PMID:31289362   PMID:31394192   PMID:31422498   PMID:31481734   PMID:31594210   PMID:31633393   PMID:31638197  
PMID:31829105   PMID:31926502   PMID:31968218   PMID:32006662   PMID:32116235   PMID:32202184   PMID:32206065   PMID:32224893   PMID:32304915   PMID:32350561   PMID:32460382   PMID:32483426  
PMID:32574885   PMID:32588752   PMID:32681442   PMID:32756923   PMID:32899424   PMID:33029509   PMID:33071125   PMID:33197889   PMID:33215408   PMID:33226155   PMID:33356818   PMID:33361585  
PMID:33543488   PMID:33564933   PMID:33593281   PMID:33760107   PMID:33760178   PMID:33770577   PMID:33794833   PMID:33803955   PMID:33851769   PMID:34125460   PMID:34184201   PMID:34192661  
PMID:34230646   PMID:34240140   PMID:34273068   PMID:34357372   PMID:34562008   PMID:34752733   PMID:34862716   PMID:35379056   PMID:35451651   PMID:35457094   PMID:35467432   PMID:35606305  
PMID:35651980   PMID:35774277   PMID:35780585   PMID:36052916  


Genomics

Comparative Map Data
MIR222
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X45,747,015 - 45,747,124 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 EnsemblX45,747,015 - 45,747,124 (-)EnsemblGRCh38hg38GRCh38
GRCh37X45,606,421 - 45,606,530 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X45,491,364 - 45,491,473 (-)NCBINCBI36Build 36hg18NCBI36
CeleraX49,798,348 - 49,798,457 (-)NCBICelera
Cytogenetic MapXp11.3NCBI
HuRefX43,321,845 - 43,321,954 (-)NCBIHuRef
CHM1_1X45,638,880 - 45,638,989 (-)NCBICHM1_1
T2T-CHM13v2.0X45,156,474 - 45,156,583 (-)NCBIT2T-CHM13v2.0
Mir222
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X19,013,132 - 19,013,210 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX19,013,132 - 19,013,210 (-)EnsemblGRCm39 Ensembl
GRCm38X19,146,893 - 19,146,971 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX19,146,893 - 19,146,971 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X18,724,019 - 18,724,097 (-)NCBIGRCm37MGSCv37mm9NCBIm37
CeleraX16,723,051 - 16,723,129 (-)NCBICelera
Cytogenetic MapXA1.3NCBI
Mir222
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X3,428,904 - 3,429,006 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX3,428,904 - 3,429,006 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX3,494,603 - 3,494,705 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0X6,970,399 - 6,970,501 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0X3,287,490 - 3,287,592 (+)NCBIRnor_WKY
Rnor_6.0X3,683,919 - 3,684,021 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX3,683,919 - 3,684,021 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X4,474,734 - 4,474,836 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
CeleraX3,968,681 - 3,968,783 (+)NCBICelera
Cytogenetic MapXq11NCBI
MIR222
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X39,524,519 - 39,524,608 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX39,524,519 - 39,524,608 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX26,757,541 - 26,757,630 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X39,656,443 - 39,656,532 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1X39,646,830 - 39,646,919 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X39,633,847 - 39,633,936 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X39,726,166 - 39,726,255 (-)NCBIUU_Cfam_GSD_1.0
MIR222
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX40,571,808 - 40,571,887 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X40,571,808 - 40,571,887 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X45,275,613 - 45,275,692 (-)NCBISscrofa10.2Sscrofa10.2susScr3

miRNA Target Status

Confirmed Targets
Gene TargetMature miRNAMethod NameResult TypeData TypeSupport TypePMID
TNFSF10hsa-miR-222-3pMirtarbaseexternal_infoWestern blotFunctional MTI18246122
FOShsa-miR-222-3pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blot//Functional MTI20299489
FOShsa-miR-222-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23400877
ICAM1hsa-miR-222-3pMirtarbaseexternal_infoLuciferase reporter assayNon-Functional MTI19949084
ESR1hsa-miR-222-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI18790736
BBC3hsa-miR-222-3pMirtarbaseexternal_infoImmunohistochemistry//In situ hybridization//LucifFunctional MTI20813046
PTENhsa-miR-222-3pMirtarbaseexternal_infoFACS//Flow//Luciferase reporter assay//Northern blFunctional MTI20618998
PTENhsa-miR-222-3pMirtarbaseexternal_infoWestern blotFunctional MTI23028614
TP53hsa-miR-222-3pMirtarbaseexternal_infoWestern blotNon-Functional MTI21226887
RECKhsa-miR-222-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22321642
CERS2hsa-miR-222-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI22393241
KIThsa-miR-222-3pTarbaseexternal_infoReporter GenePOSITIVE
CDKN1Bhsa-miR-222-3pTarbaseexternal_infoNothernblot POSITIVE
CDKN1Bhsa-miR-222-3pTarbaseexternal_infoWesternblitPOSITIVE
KIThsa-miR-222-3pMirecordsexternal_info{unchanged}NA16330772
CDKN1Bhsa-miR-222-3pMirecordsexternal_infoNANA17721077
CDKN1Bhsa-miR-222-3pMirecordsexternal_infoNANA18413744
CDKN1Bhsa-miR-222-3pMirecordsexternal_info{unchanged}NA18417445
CDKN1Bhsa-miR-222-3pMirecordsexternal_info{changed}NA17569667
ESR1hsa-miR-222-3pMirecordsexternal_info{unchanged}NA18790736
CDKN1Bhsa-miR-222-3pMirecordsexternal_info{changed}NA18708351
CDKN1Bhsa-miR-222-3pMirecordsexternal_infoNANA19107216
FOShsa-miR-222-3pMirecordsexternal_infoNANA20299489
PPP2R2Ahsa-miR-222-3pMirecordsexternal_infoNANA20103675
CDKN1Chsa-miR-222-3pMirecordsexternal_infoNANA19589872
MMP1hsa-miR-222-3pMirecordsexternal_infoNANA19487542
PTENhsa-miR-222-3pMirecordsexternal_infoNANA20618998
TIMP3hsa-miR-222-3pMirecordsexternal_info{changed}NA22009755
FOShsa-miR-222-3pOncomiRDBexternal_infoNANA23400877
TIMP3hsa-miR-222-3pOncomiRDBexternal_infoNANA22681957
ADAM17hsa-miR-222-3pOncomiRDBexternal_infoNANA22677042
RECKhsa-miR-222-3pOncomiRDBexternal_infoNANA22321642
GJA1hsa-miR-222-3pOncomiRDBexternal_infoNANA22294051
APAF1hsa-miR-222-3pOncomiRDBexternal_infoNANA22157681
TIMP3hsa-miR-222-3pOncomiRDBexternal_infoNANA22009755
TRPS1hsa-miR-222-3pOncomiRDBexternal_infoNANA21868360
DICER1hsa-miR-222-3pOncomiRDBexternal_infoNANA21761362
PTPRMhsa-miR-222-3pOncomiRDBexternal_infoNANA21743492
TRPS1hsa-miR-222-3pOncomiRDBexternal_infoNANA21673316
PPP2R2Ahsa-miR-222-3pOncomiRDBexternal_infoNANA21656127
CXCL12hsa-miR-222-3pOncomiRDBexternal_infoNANA21343399
DIRAS3hsa-miR-222-3pOncomiRDBexternal_infoNANA21071579
BBC3hsa-miR-222-3pOncomiRDBexternal_infoNANA21042732
BBC3hsa-miR-222-3pOncomiRDBexternal_infoNANA20813046
PTENhsa-miR-222-3pOncomiRDBexternal_infoNANA20618998
FOXO3hsa-miR-222-3pOncomiRDBexternal_infoNANA20388878
PPP2R2Ahsa-miR-222-3pOncomiRDBexternal_infoNANA20103675
PTENhsa-miR-222-3pOncomiRDBexternal_infoNANA19962668
ICAM1hsa-miR-222-3pOncomiRDBexternal_infoNANA19520829
MMP1hsa-miR-222-3pOncomiRDBexternal_infoNANA19487542
CDKN1Ahsa-miR-222-3pOncomiRDBexternal_infoNANA19153141
ESR1hsa-miR-222-3pOncomiRDBexternal_infoNANA18790736
CDKN1Bhsa-miR-222-3pOncomiRDBexternal_infoNANA18708351
CDKN1Bhsa-miR-222-3pOncomiRDBexternal_infoNANA18417445
KIThsa-miR-222-3pOncomiRDBexternal_infoNANA18246122
CDKN1Bhsa-miR-222-3pOncomiRDBexternal_infoNANA17914108
CDKN1Bhsa-miR-222-3pOncomiRDBexternal_infoNANA17721077
CDKN1Bhsa-miR-222-3pOncomiRDBexternal_infoNANA17627278
CDKN1Bhsa-miR-222-3pOncomiRDBexternal_infoNANA17569667
KIThsa-miR-222-3pOncomiRDBexternal_infoNANA16330772
STAT5Ahsa-miR-222-3pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blotFunctional MTI20489169
CDKN1Bhsa-miR-222-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blot//Western bFunctional MTI17569667
CDKN1Bhsa-miR-222-3pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blotFunctional MTI19153141
CDKN1Bhsa-miR-222-3pMirtarbaseexternal_infoWestern blot//Northern blotFunctional MTI19107213
CDKN1Bhsa-miR-222-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI19859555
CDKN1Bhsa-miR-222-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI18417445
CDKN1Bhsa-miR-222-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19150885
CDKN1Bhsa-miR-222-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI18983236
CDKN1Bhsa-miR-222-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI18246122
CDKN1Bhsa-miR-222-3pMirtarbaseexternal_infoimmunohistochemistry//Microarray//qRT-PCRFunctional MTI (Weak)20012062
CDKN1Bhsa-miR-222-3pMirtarbaseexternal_infoNorthern blot//qRT-PCR//Western blotFunctional MTI20018759
CDKN1Bhsa-miR-222-3pMirtarbaseexternal_infoImmunohistochemistry//In situ hybridization//LucifFunctional MTI19424584
CDKN1Bhsa-miR-222-3pMirtarbaseexternal_infoWestern blot//Reporter assayFunctional MTI17721077
CDKN1Bhsa-miR-222-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI17627278
CDKN1Bhsa-miR-222-3pMirtarbaseexternal_infoqRT-PCR//Western blotFunctional MTI18708351
CDKN1Bhsa-miR-222-3pMirtarbaseexternal_infoqRT-PCRFunctional MTI (Weak)23447020
CDKN1Bhsa-miR-222-3pMirtarbaseexternal_infoReporter assayFunctional MTI17914108
CDKN1Bhsa-miR-222-3pMirtarbaseexternal_infoReporter assayFunctional MTI18413744
SOD2hsa-miR-222-3pMirtarbaseexternal_infoFlow//Luciferase reporter assay//Microarray//qRT-PFunctional MTI19487542
FOXO3hsa-miR-222-3pMirtarbaseexternal_infoqRT-PCR//ChIP//Luciferase reporter assay//Western Functional MTI20388878
DICER1hsa-miR-222-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI21761362
CDKN1Chsa-miR-222-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI19589872
CDKN1Chsa-miR-222-3pMirtarbaseexternal_infoLuciferase reporter assay//Reporter assay;OtherFunctional MTI18413744
TMED7hsa-miR-222-3pMirtarbaseexternal_infoWestern blotFunctional MTI21226887
TMED7hsa-miR-222-3pMirtarbaseexternal_infoWestern blot;qRT-PCRFunctional MTI20018759
ETS1hsa-miR-222-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCRFunctional MTI23522449
PPP2R2Ahsa-miR-222-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI20103675
KIThsa-miR-222-3pMirtarbaseexternal_infoqRT-PCR//Western blotFunctional MTI18417445
KIThsa-miR-222-3pMirtarbaseexternal_infoNorthern blot//qRT-PCR//Western blotFunctional MTI16365291
PPP2R2Ahsa-miR-222-3pMirtarbaseexternal_infoReporter assay;Western blotFunctional MTI21656127
PPP2R2Ahsa-miR-222-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248
TIMP3hsa-miR-222-3pMirtarbaseexternal_infoFlow//Immunohistochemistry//Luciferase reporter asFunctional MTI19962668
TIMP3hsa-miR-222-3pMirtarbaseexternal_infoImmunohistochemistry//In situ hybridization//qRT-PFunctional MTI22009755
KIThsa-miR-222-3pMirtarbaseexternal_infoReporter assayFunctional MTI16330772
TIMP3hsa-miR-222-3pMirtarbaseexternal_infoELISA//Luciferase reporter assay//qRT-PCR//WesternFunctional MTI22681957

Predicted Targets
Summary Value
Count of predictions:21078
Count of gene targets:8729
Count of transcripts:16532
Interacting mature miRNAs:hsa-miR-222-3p, hsa-miR-222-5p
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 1
Medium 5 3 5 1 5 2 7 10 7
Low 89 10 64 24 221 28 113 46 68 100 158 179 6 10 14 4
Below cutoff 34 29 17 10 37 6 66 22 30 15 64 50 4 20 31

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000384992
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX45,747,015 - 45,747,124 (-)Ensembl
RefSeq Acc Id: NR_029636
RefSeq Status: PROVISIONAL
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X45,747,015 - 45,747,124 (-)NCBI
GRCh37X45,606,421 - 45,606,530 (-)ENTREZGENE
HuRefX43,321,845 - 43,321,954 (-)ENTREZGENE
CHM1_1X45,638,880 - 45,638,989 (-)NCBI
T2T-CHM13v2.0X45,156,474 - 45,156,583 (-)NCBI
Sequence:

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:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [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 Xp22.33-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 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 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.31-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 Xp22.33-11.21(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 Xp11.3-11.23(chrX:44879855-46541970)x1 copy number loss not provided [RCV001531177] ChrX:44879855..46541970 [GRCh37]
ChrX:Xp11.3-11.23
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:60262-155245765)x1 copy number loss not provided [RCV000753271] 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
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: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
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
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
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
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
NC_000023.10:g.(?_45605561)_(46952346_?)del deletion not provided [RCV001031576] ChrX:45605561..46952346 [GRCh37]
ChrX:Xp11.3-11.23
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 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-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-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 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
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: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
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:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:31602 AgrOrtholog
COSMIC MIR222 COSMIC
Ensembl Genes ENSG00000207725 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000384992 ENTREZGENE
GTEx ENSG00000207725 GTEx
HGNC ID HGNC:31602 ENTREZGENE
Human Proteome Map MIR222 Human Proteome Map
miRBase MI0000299 ENTREZGENE
NCBI Gene 407007 ENTREZGENE
OMIM 300569 OMIM
PharmGKB PA164722610 PharmGKB
RNAcentral URS0000153377 RNACentral
  URS00002C6949 RNACentral
  URS000075C381 RNACentral