FOXP3 (forkhead box P3) - Rat Genome Database

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Gene: FOXP3 (forkhead box P3) Homo sapiens
Analyze
Symbol: FOXP3
Name: forkhead box P3
RGD ID: 1348507
HGNC Page HGNC
Description: Exhibits several functions, including NFAT protein binding activity; enzyme binding activity; and protein homodimerization activity. Involved in several processes, including negative regulation of T cell activation; regulation of gene expression; and regulation of histone modification. Localizes to cytoplasm and nucleoplasm. Implicated in Human papillomavirus infectious disease; colorectal cancer; immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; pulmonary tuberculosis; and type 1 diabetes mellitus. Biomarker of several diseases, including adult T-cell leukemia; cervix disease (multiple); chlamydia; liver disease (multiple); and tuberculosis (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AIID; DIETER; forkhead box protein P3; FOXP3delta7; immune dysregulation, polyendocrinopathy, enteropathy, X-linked; immunodeficiency, polyendocrinopathy, enteropathy, X-linked; IPEX; JM2; MGC141961; MGC141963; PIDX; scurfin; XPID
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX49,250,436 - 49,270,477 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX49,250,438 - 49,270,477 (-)EnsemblGRCh38hg38GRCh38
GRCh38X49,250,436 - 49,264,932 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X49,106,899 - 49,121,172 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,994,354 - 49,008,232 (-)NCBINCBI36hg18NCBI36
Build 34X48,863,780 - 48,877,659NCBI
CeleraX52,543,105 - 52,557,472 (+)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,763,332 - 46,777,541 (-)NCBIHuRef
CHM1_1X49,139,199 - 49,153,588 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Acute-On-Chronic Liver Failure  (IEP)
adult T-cell leukemia  (EXP,IEP)
Airway Remodeling  (ISO)
allergic disease  (EXP)
anemia  (IAGP)
Animal Toxoplasmosis  (ISO)
anogenital venereal wart  (IEP)
asthma  (EXP,ISO)
autistic disorder  (IAGP)
bacterial pneumonia  (ISO)
Breast Neoplasms  (EXP)
bronchiolitis obliterans  (ISO)
cervical squamous cell carcinoma  (IEP)
chlamydia  (IEP)
Chronic Hepatitis B  (IEP)
Chronic Hepatitis C  (IEP)
colorectal cancer  (IDA)
congenital disorder of glycosylation type IIm  (IAGP)
cutaneous leishmaniasis  (IEP)
dermatitis  (ISO)
diabetes mellitus  (IAGP)
Dysbiosis  (ISO)
endometriosis  (IEP)
Endotoxemia  (ISO)
Epstein-Barr Virus Infections  (IEP)
Experimental Arthritis  (ISO)
Experimental Autoimmune Myocarditis  (ISO)
Experimental Autoimmune Neuritis  (ISO)
Experimental Colitis  (ISO)
Experimental Diabetes Mellitus  (ISO)
genetic disease  (IAGP)
Graft vs Host Disease  (ISO)
hepatitis B  (IEP)
hepatitis C  (IEP)
hepatocellular carcinoma  (IEP)
Hydrops Fetalis  (IAGP)
hypertension  (ISO)
hypothyroidism  (ISO)
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  (EXP,IAGP)
infectious mononucleosis  (IEP)
intrahepatic cholangiocarcinoma  (ISO)
Korean hemorrhagic fever  (ISO)
Lung Injury  (EXP)
malaria  (IEP)
multidrug-resistant tuberculosis  (IEP)
Neuralgia  (ISO)
neurodegeneration with brain iron accumulation 5  (IAGP)
occupational dermatitis  (EXP)
papillomavirus infectious disease  (IAGP)
pleural tuberculosis  (IEP)
polycystic ovary syndrome  (EXP)
primary biliary cholangitis  (IEP)
pulmonary tuberculosis  (IAGP)
Recurrent Respiratory Papillomatosis  (IAGP)
rheumatoid arthritis  (EXP)
Sepsis  (IEP)
spermatogenic failure 3  (IAGP)
Spinal Cord Injuries  (ISO)
Squamous Intraepithelial Lesions of the Cervix  (IAGP)
syndromic X-linked intellectual disability Lubs type  (IAGP)
syphilis  (IEP)
Transplant Rejection  (IEP,ISO)
tropical spastic paraparesis  (IEP)
type 1 diabetes mellitus  (IAGP)
vaccinia  (ISO)
Wiskott-Aldrich syndrome  (ISS)
Wound Infection  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(+)-Tetrandrine  (ISO)
(R)-mevalonic acid  (ISO)
(S)-nicotine  (ISO)
1-Hydroxypyrene  (EXP)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
5-aza-2'-deoxycytidine  (EXP,ISO)
5-azacytidine  (ISO)
aflatoxin B1  (EXP)
alloxan  (ISO)
alpha-naphthoflavone  (ISO)
amiodarone  (EXP)
amphetamine  (ISO)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenous acid  (EXP,ISO)
benzalkonium chloride  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
bleomycin A2  (ISO)
calcitriol  (EXP)
carbon monoxide  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
cyclophosphamide  (ISO)
deoxynivalenol  (EXP)
dextran sulfate  (ISO)
diallyl trisulfide  (ISO)
diarsenic trioxide  (EXP,ISO)
fragrance  (EXP)
fulvestrant  (EXP)
fumonisin B1  (EXP)
hydralazine  (ISO)
lead diacetate  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
leflunomide  (ISO)
levamisole  (ISO)
lipopolysaccharide  (ISO)
methimazole  (ISO)
nickel atom  (EXP)
nicotine  (ISO)
nitrogen dioxide  (EXP)
obeticholic acid  (EXP)
ozone  (EXP)
phenanthrene  (ISO)
phenytoin  (ISO)
platycodin D  (ISO)
procainamide  (ISO)
progesterone  (EXP,ISO)
quinacrine  (EXP)
resveratrol  (ISO)
rotenone  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
silicon dioxide  (EXP)
simvastatin  (EXP,ISO)
sirolimus  (EXP,ISO)
sodium arsenite  (ISO)
tamibarotene  (ISO)
tamoxifen  (EXP)
testosterone  (ISO)
toluene  (ISO)
trichloroethene  (ISO)
trichostatin A  (ISO)
Triptolide  (ISO)
triptonide  (ISO)
valproic acid  (EXP)
zidovudine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
B cell homeostasis  (IEA,ISO)
CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation  (IMP)
CD4-positive, CD25-positive, alpha-beta regulatory T cell lineage commitment  (TAS)
chromatin remodeling  (NAS)
establishment of endothelial blood-brain barrier  (IEA,ISO)
gene expression  (IEA,ISO)
myeloid cell homeostasis  (IEA,ISO)
negative regulation of activated T cell proliferation  (NAS)
negative regulation of cell population proliferation  (IDA)
negative regulation of chronic inflammatory response  (IEA,ISO)
negative regulation of CREB transcription factor activity  (IDA)
negative regulation of cytokine production  (IDA)
negative regulation of defense response to virus  (IEA,ISO)
negative regulation of DNA-binding transcription factor activity  (IDA)
negative regulation of gene expression  (ISO)
negative regulation of histone acetylation  (IEA,ISO)
negative regulation of histone deacetylation  (IGI)
negative regulation of immune response  (IDA)
negative regulation of inflammatory response  (ISO)
negative regulation of interferon-gamma production  (IDA,IMP,ISO)
negative regulation of interleukin-10 production  (IDA,ISO)
negative regulation of interleukin-17 production  (IMP)
negative regulation of interleukin-2 production  (IDA,IMP,ISO)
negative regulation of interleukin-4 production  (IDA,ISO)
negative regulation of interleukin-5 production  (IEA,ISO)
negative regulation of interleukin-6 production  (IEA,ISO)
negative regulation of isotype switching to IgE isotypes  (IEA,ISO)
negative regulation of lymphocyte proliferation  (ISO)
negative regulation of NF-kappaB transcription factor activity  (IDA)
negative regulation of T cell cytokine production  (IDA,IMP)
negative regulation of T cell proliferation  (IDA,IMP,ISO)
negative regulation of T-helper 17 cell differentiation  (IMP)
negative regulation of transcription by RNA polymerase II  (IBA,ISO)
negative regulation of transcription, DNA-templated  (IDA,IMP,ISO)
negative regulation of tumor necrosis factor production  (IEA,ISO)
positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation  (ISO,TAS)
positive regulation of gene expression  (ISO)
positive regulation of histone acetylation  (IMP,ISO)
positive regulation of immature T cell proliferation in thymus  (IEA,ISO)
positive regulation of interleukin-4 production  (IEA,ISO)
positive regulation of peripheral T cell tolerance induction  (IEA,ISO)
positive regulation of regulatory T cell differentiation  (ISO)
positive regulation of T cell anergy  (IEA,ISO)
positive regulation of T cell tolerance induction  (ISO)
positive regulation of transcription by RNA polymerase II  (IMP,ISO)
positive regulation of transcription, DNA-templated  (IDA,IMP,ISO,ISS)
positive regulation of transforming growth factor beta1 production  (IEA,ISO)
regulation of immunoglobulin production  (ISO)
regulation of isotype switching to IgG isotypes  (IEA,ISO)
regulation of regulatory T cell differentiation  (TAS)
regulation of T cell anergy  (ISS)
regulation of transcription by RNA polymerase II  (IBA,ISO)
regulation of transcription, DNA-templated  (IEA,NAS)
regulation of Wnt signaling pathway  (TAS)
response to lipopolysaccharide  (IEA,ISO)
response to radiation  (IEA,ISO)
response to rapamycin  (IEA,ISO)
response to virus  (IEP)
T cell activation  (IDA,ISO)
T cell homeostasis  (NAS)
T cell mediated immunity  (IEA,ISO)
T cell receptor signaling pathway  (IEA,ISO)
tolerance induction  (ISO)
tolerance induction to self antigen  (IEA,ISO)

Cellular Component
chromatin  (ISA)
cytoplasm  (IDA,NAS)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,IDA,NAS)
protein-containing complex  (NAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal blistering of the skin  (IAGP)
Allergy  (IAGP)
Alopecia  (IAGP)
Anemia  (IAGP)
Anti-glutamic acid decarboxylase antibody positivity  (IAGP)
Anti-liver cytosolic antigen type 1 antibody positivity  (IAGP)
Anti-thyroid peroxidase antibody positivity  (IAGP)
Arthritis  (IAGP)
Autoimmune hemolytic anemia  (IAGP)
Autoimmune thrombocytopenia  (IAGP)
Cachexia  (IAGP)
Chronic diarrhea  (IAGP)
Colitis  (IAGP)
Coombs-positive hemolytic anemia  (IAGP)
Crusting erythematous dermatitis  (IAGP)
Decreased prealbumin level  (IAGP)
Dependency on intravenous nutrition  (IAGP)
Eczema  (IAGP)
Eczematoid dermatitis  (IAGP)
Elevated hepatic transaminase  (IAGP)
Eosinophilia  (IAGP)
Erythroderma  (IAGP)
Failure to thrive  (IAGP)
Failure to thrive in infancy  (IAGP)
Food allergy  (IAGP)
Gastritis  (IAGP)
Global developmental delay  (IAGP)
Glomerulonephritis  (IAGP)
Hepatitis  (IAGP)
Hydrops fetalis  (IAGP)
Hyperthyroidism  (IAGP)
Hypoalbuminemia  (IAGP)
Hypocalcemia  (IAGP)
Hypomagnesemia  (IAGP)
Hypothyroidism  (IAGP)
Ileus  (IAGP)
Immune dysregulation  (IAGP)
Increased circulating IgE level  (IAGP)
Insulin receptor antibody positivity  (IAGP)
Interstitial pneumonitis  (IAGP)
Iron deficiency anemia  (IAGP)
Lymphadenopathy  (IAGP)
Malabsorption  (IAGP)
Membranous nephropathy  (IAGP)
Meningitis  (IAGP)
Myositis  (IAGP)
Nail dystrophy  (IAGP)
Nasogastric tube feeding  (IAGP)
Nephrotic syndrome  (IAGP)
Neutropenia  (IAGP)
Neutropenia in presence of anti-neutropil antibodies  (IAGP)
Non-obstructive azoospermia  (IAGP)
Osteomyelitis  (IAGP)
Pneumonia  (IAGP)
Psoriasiform dermatitis  (IAGP)
Recurrent gastroenteritis  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent skin infections  (IAGP)
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells  (IAGP)
Respiratory distress  (IAGP)
Schizophrenia  (IAGP)
Secretory diarrhea  (IAGP)
Seizure  (IAGP)
Sepsis  (IAGP)
Severe infection  (IAGP)
Splenomegaly  (IAGP)
Thyroiditis  (IAGP)
Tubulointerstitial nephritis  (IAGP)
Type I diabetes mellitus  (IAGP)
Urticaria  (IAGP)
Ventriculomegaly  (IAGP)
Villous atrophy  (IAGP)
Vomiting  (IAGP)
X-linked recessive inheritance  (IAGP)
References

References - curated
1. Amador CA, etal., Hypertension. 2014 Apr;63(4):797-803. doi: 10.1161/HYPERTENSIONAHA.113.02883. Epub 2014 Jan 13.
2. Asada M, etal., Exp Dermatol. 2012 Feb;21(2):118-22. doi: 10.1111/j.1600-0625.2011.01404.x. Epub 2011 Dec 6.
3. Beiranvand E, etal., BMC Infect Dis. 2017 Oct 11;17(1):673. doi: 10.1186/s12879-017-2762-5.
4. Cezar-Dos-Santos F, etal., J Cancer Res Clin Oncol. 2019 Aug;145(8):2013-2025. doi: 10.1007/s00432-019-02951-x. Epub 2019 Jun 8.
5. Chen S, etal., Reprod Biol Endocrinol. 2012 Apr 27;10:34. doi: 10.1186/1477-7827-10-34.
6. Corradi-Perini C, etal., Transplant Proc. 2017 May;49(4):902-905. doi: 10.1016/j.transproceed.2017.01.064.
7. Demirkiran A, etal., Transplantation. 2007 Mar 27;83(6):819-23. doi: 10.1097/01.tp.0000258597.97468.88.
8. Ding FM, etal., Exp Lung Res. 2015 Feb;41(1):44-55. doi: 10.3109/01902148.2014.964351. Epub 2014 Nov 14.
9. Easterbrook JD, etal., Proc Natl Acad Sci U S A. 2007 Sep 25;104(39):15502-7. Epub 2007 Sep 18.
10. Eijkelkamp N, etal., Gut. 2007 Jun;56(6):847-54. doi: 10.1136/gut.2006.107094. Epub 2007 Jan 17.
11. Finney OC, etal., Eur J Immunol. 2009 May;39(5):1288-300. doi: 10.1002/eji.200839112.
12. Freyschmidt EJ, etal., J Immunol. 2010 Jul 15;185(2):1295-302. doi: 10.4049/jimmunol.0903144. Epub 2010 Jun 14.
13. Ghezeldasht SA, etal., Appl Biochem Biotechnol. 2017 Aug;182(4):1403-1414. doi: 10.1007/s12010-017-2406-7. Epub 2017 Jan 18.
14. GOA_HUMAN data from the GO Consortium
15. He Y, etal., Biosci Rep. 2018 Nov 7;38(6). pii: BSR20180895. doi: 10.1042/BSR20180895. Print 2018 Dec 21.
16. Hwang JH, etal., Exp Ther Med. 2018 Jul;16(1):310-320. doi: 10.3892/etm.2018.6190. Epub 2018 May 18.
17. Jiao H and Ren H, Drug Des Devel Ther. 2018 Nov 6;12:3817-3824. doi: 10.2147/DDDT.S175331. eCollection 2018.
18. Jungraithmayr W, etal., Eur Respir J. 2010 Jun;35(6):1354-63. Epub 2009 Oct 19.
19. Karube K, etal., Mod Pathol. 2008 May;21(5):617-25. doi: 10.1038/modpathol.2008.25. Epub 2008 Feb 8.
20. Kwon TK, etal., J Otolaryngol Head Neck Surg. 2017 Mar 15;46(1):21. doi: 10.1186/s40463-017-0197-z.
21. Li J, etal., Inflammation. 2015;38(3):995-1002. doi: 10.1007/s10753-014-0063-3.
22. Li Y, etal., Mol Med Rep. 2017 Dec;16(6):8137-8145. doi: 10.3892/mmr.2017.7605. Epub 2017 Sep 25.
23. Liang CL and Wang J, Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi. 2008 Mar;24(3):270-3.
24. Liu C, etal., World J Gastroenterol. 2009 Dec 14;15(46):5843-50. doi: 10.3748/wjg.15.5843.
25. Liu YW, etal., Benef Microbes. 2016 Jun;7(3):387-96. doi: 10.3920/BM2015.0109. Epub 2016 Mar 1.
26. Miyaaki H, etal., Liver Int. 2009 May;29(5):702-7. doi: 10.1111/j.1478-3231.2008.01842.x. Epub 2008 Jul 30.
27. Nabavi NS, etal., Parasite Immunol. 2018 Jan;40(1). doi: 10.1111/pim.12507. Epub 2017 Dec 17.
28. OMIM Disease Annotation Pipeline
29. Park S, etal., Exp Mol Med. 2016 Sep 16;48(9):e259. doi: 10.1038/emm.2016.83.
30. Putilin DA, etal., J Med Life. 2020 Jan-Mar;13(1):50-55. doi: 10.25122/jml-2020-0029.
31. Ramirez E, etal., Braz J Med Biol Res. 2010 Nov;43(11):1109-15. doi: 10.1590/s0100-879x2010007500107. Epub 2010 Oct 8.
32. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
33. RGD automated import pipeline for gene-chemical interactions
34. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
35. Rivas MN, etal., J Clin Invest. 2012 May;122(5):1933-47. doi: 10.1172/JCI40591. Epub 2012 Apr 2.
36. Sasaki M, etal., J Clin Pathol. 2007 Oct;60(10):1102-7. doi: 10.1136/jcp.2006.044776. Epub 2006 Dec 8.
37. Schultze FC, etal., Clin Biochem. 2014 Feb;47(3):201-5. doi: 10.1016/j.clinbiochem.2013.11.013. Epub 2013 Nov 26.
38. Shen HB, etal., Chin J Integr Med. 2018 Apr;24(4):278-283. doi: 10.1007/s11655-017-2792-2. Epub 2017 Dec 21.
39. Shi YJ, etal., Mol Med Rep. 2013 Aug;8(2):480-6. doi: 10.3892/mmr.2013.1511. Epub 2013 Jun 6.
40. Shin J, etal., Nanomedicine. 2019 Jun;18:90-100. doi: 10.1016/j.nano.2019.02.023. Epub 2019 Mar 8.
41. Sun Z, etal., J Tradit Chin Med. 2020 Feb;40(1):38-48.
42. Toossi Z, etal., Clin Exp Immunol. 2011 Mar;163(3):333-8. doi: 10.1111/j.1365-2249.2010.04269.x.
43. Walther M, etal., Immunity. 2005 Sep;23(3):287-96. doi: 10.1016/j.immuni.2005.08.006.
44. Wan L, etal., Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi. 2013 Mar;29(3):251-5.
45. Wang C, etal., Transpl Immunol. 2011 Apr 15;24(3):149-56. doi: 10.1016/j.trim.2010.12.004. Epub 2011 Jan 1.
46. Wang Q, etal., BMC Immunol. 2011 Apr 14;12:25. doi: 10.1186/1471-2172-12-25.
47. Wang Q, etal., Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2013 Apr;21(2):469-73. doi: 10.7534/j.issn.1009-2137.2013.02.044.
48. Wang S, etal., Cardiology. 2010;115(2):107-13. doi: 10.1159/000256660. Epub 2009 Nov 10.
49. Wang WH, etal., World J Gastroenterol. 2010 Nov 21;16(43):5502-9. doi: 10.3748/wjg.v16.i43.5502.
50. Wildin RS, etal., Nat Genet. 2001 Jan;27(1):18-20.
51. Wu YE, etal., Mol Med Rep. 2015 Apr;11(4):3134-42. doi: 10.3892/mmr.2014.3033. Epub 2014 Dec 3.
52. Xia X, etal., Liver Transpl. 2012 Jun;18(6):696-706. doi: 10.1002/lt.23414.
53. Yang J and Xu L, Med Sci Monit. 2016 Aug 8;22:2785-92. doi: 10.12659/msm.896827.
54. Yao J, etal., Am J Surg Pathol. 2013 Sep;37(9):1407-12. doi: 10.1097/PAS.0b013e31828f2322.
55. Zhang H, etal., Am J Reprod Immunol. 2012 Feb;67(2):112-21. doi: 10.1111/j.1600-0897.2011.01065.x. Epub 2011 Sep 19.
56. Zhang M, etal., Microb Pathog. 2017 Sep;110:426-430. doi: 10.1016/j.micpath.2017.07.029. Epub 2017 Jul 18.
57. Zhao J, etal., Exp Ther Med. 2016 Jun;11(6):2300-2304. doi: 10.3892/etm.2016.3178. Epub 2016 Mar 23.
58. Zhao M, etal., Virol J. 2017 Jan 13;14(1):5. doi: 10.1186/s12985-016-0670-8.
59. Zheng Z, etal., Immunology. 2018 Feb;153(2):246-252. doi: 10.1111/imm.12837. Epub 2017 Oct 16.
60. Ziklo N, etal., BMC Infect Dis. 2019 Mar 4;19(1):218. doi: 10.1186/s12879-019-3843-4.
Additional References at PubMed
PMID:8889548   PMID:10677306   PMID:11076863   PMID:11120765   PMID:11137993   PMID:11138001   PMID:11483607   PMID:11768393   PMID:12296863   PMID:12477932   PMID:12750858   PMID:14597769  
PMID:14671208   PMID:14997560   PMID:15100250   PMID:15172973   PMID:15220219   PMID:15246158   PMID:15374887   PMID:15466453   PMID:15489334   PMID:15620457   PMID:15652505   PMID:15674359  
PMID:15772651   PMID:15790681   PMID:15952173   PMID:15972448   PMID:16003241   PMID:16091206   PMID:16211090   PMID:16278306   PMID:16322292   PMID:16339542   PMID:16339919   PMID:16344560  
PMID:16368541   PMID:16410445   PMID:16493082   PMID:16517728   PMID:16551363   PMID:16557241   PMID:16574699   PMID:16583400   PMID:16596204   PMID:16617117   PMID:16645171   PMID:16652169  
PMID:16652285   PMID:16728694   PMID:16741580   PMID:16764698   PMID:16818738   PMID:16825494   PMID:16873067   PMID:16881731   PMID:16901927   PMID:16903909   PMID:16920951   PMID:16955142  
PMID:16956389   PMID:16996248   PMID:17028180   PMID:17033038   PMID:17154262   PMID:17161353   PMID:17175222   PMID:17183612   PMID:17216339   PMID:17230494   PMID:17262084   PMID:17286616  
PMID:17289884   PMID:17299718   PMID:17309822   PMID:17311282   PMID:17327427   PMID:17329235   PMID:17360565   PMID:17377532   PMID:17378693   PMID:17389235   PMID:17393103   PMID:17414320  
PMID:17418529   PMID:17445472   PMID:17463169   PMID:17508019   PMID:17526924   PMID:17565321   PMID:17570480   PMID:17574040   PMID:17589345   PMID:17612516   PMID:17615291   PMID:17641056  
PMID:17644307   PMID:17666212   PMID:17694575   PMID:17703412   PMID:17706604   PMID:17712427   PMID:17712989   PMID:17712998   PMID:17713426   PMID:17804750   PMID:17851585   PMID:17878390  
PMID:17903368   PMID:17916446   PMID:17921346   PMID:17932340   PMID:17954183   PMID:17970785   PMID:17975141   PMID:18008005   PMID:18024321   PMID:18034969   PMID:18047933   PMID:18089323  
PMID:18092263   PMID:18155891   PMID:18156149   PMID:18162042   PMID:18171284   PMID:18173798   PMID:18178814   PMID:18231910   PMID:18240282   PMID:18261176   PMID:18270250   PMID:18270368  
PMID:18279718   PMID:18286169   PMID:18294387   PMID:18304876   PMID:18317533   PMID:18324310   PMID:18331599   PMID:18354202   PMID:18368049   PMID:18394345   PMID:18395862   PMID:18412171  
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PMID:19089920   PMID:19096978   PMID:19104431   PMID:19108017   PMID:19111574   PMID:19120312   PMID:19124747   PMID:19125672   PMID:19132983   PMID:19136904   PMID:19141582   PMID:19150256  
PMID:19155519   PMID:19168733   PMID:19178794   PMID:19189134   PMID:19192224   PMID:19199536   PMID:19201288   PMID:19203731   PMID:19237575   PMID:19242793   PMID:19255314   PMID:19255331  
PMID:19258923   PMID:19264232   PMID:19264985   PMID:19273860   PMID:19274049   PMID:19276356   PMID:19283780   PMID:19328914   PMID:19358983   PMID:19363449   PMID:19364305   PMID:19373655  
PMID:19383912   PMID:19392991   PMID:19394278   PMID:19408243   PMID:19419438   PMID:19424039   PMID:19439651   PMID:19453521   PMID:19464196   PMID:19470254   PMID:19481824   PMID:19513564  
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PMID:19787238   PMID:19798683   PMID:19800578   PMID:19808652   PMID:19845758   PMID:19849846   PMID:19856313   PMID:19875613   PMID:19880293   PMID:19900711   PMID:19900843   PMID:19902430  
PMID:19917773   PMID:19940860   PMID:19941313   PMID:19952070   PMID:19953886   PMID:19956618   PMID:19957514   PMID:19958642   PMID:19996091   PMID:19996930   PMID:20005366   PMID:20015215  
PMID:20028375   PMID:20032994   PMID:20075077   PMID:20087581   PMID:20100010   PMID:20109747   PMID:20142839   PMID:20147963   PMID:20150173   PMID:20209161   PMID:20224778   PMID:20229175  
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PMID:20583921   PMID:20599261   PMID:20633650   PMID:20654176   PMID:20668701   PMID:20676092   PMID:20677152   PMID:20677925   PMID:20688398   PMID:20701086   PMID:20709600   PMID:20726328  
PMID:20729906   PMID:20842625   PMID:20880066   PMID:20886106   PMID:20920773   PMID:20930173   PMID:20933283   PMID:20942809   PMID:20943459   PMID:20952660   PMID:20967272   PMID:21034673  
PMID:21059286   PMID:21070367   PMID:21078762   PMID:21085187   PMID:21085635   PMID:21091665   PMID:21107665   PMID:21114556   PMID:21178008   PMID:21209284   PMID:21249500   PMID:21255537  
PMID:21255538   PMID:21266832   PMID:21268019   PMID:21278236   PMID:21285410   PMID:21317396   PMID:21352381   PMID:21357259   PMID:21376048   PMID:21381018   PMID:21381020   PMID:21400500  
PMID:21423069   PMID:21436647   PMID:21437244   PMID:21447271   PMID:21458306   PMID:21472440   PMID:21481380   PMID:21489891   PMID:21490927   PMID:21496382   PMID:21499129   PMID:21533107  
PMID:21558402   PMID:21570917   PMID:21607944   PMID:21617226   PMID:21618521   PMID:21642545   PMID:21654831   PMID:21654845   PMID:21670722   PMID:21674673   PMID:21684226   PMID:21693260  
PMID:21696363   PMID:21696572   PMID:21708895   PMID:21719077   PMID:21719142   PMID:21726337   PMID:21741320   PMID:21743493   PMID:21746966   PMID:21763379   PMID:21772667   PMID:21791252  
PMID:21802372   PMID:21818290   PMID:21832836   PMID:21855850   PMID:21865090   PMID:21873635   PMID:21876709   PMID:21891821   PMID:21904560   PMID:21912510   PMID:21926059   PMID:21926327  
PMID:21934066   PMID:21949691   PMID:21955384   PMID:21974802   PMID:22000402   PMID:22000667   PMID:22007491   PMID:22032685   PMID:22058032   PMID:22077067   PMID:22079196   PMID:22079987  
PMID:22093153   PMID:22093989   PMID:22118340   PMID:22124370   PMID:22143939   PMID:22152480   PMID:22155204   PMID:22157245   PMID:22161558   PMID:22166628   PMID:22201619   PMID:22210907  
PMID:22214248   PMID:22239151   PMID:22264504   PMID:22287403   PMID:22308996   PMID:22310634   PMID:22312127   PMID:22321351   PMID:22332874   PMID:22341374   PMID:22372921   PMID:22389297  
PMID:22391183   PMID:22419479   PMID:22425700   PMID:22431701   PMID:22435141   PMID:22444300   PMID:22446942   PMID:22446965   PMID:22447883   PMID:22491736   PMID:22506043   PMID:22515293  
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PMID:23910692   PMID:23911408   PMID:23948758   PMID:23969200   PMID:23973223   PMID:23974203   PMID:23977174   PMID:23993983   PMID:23996727   PMID:24012345   PMID:24035934   PMID:24040244  
PMID:24068936   PMID:24071443   PMID:24098530   PMID:24099863   PMID:24116716   PMID:24127318   PMID:24136450   PMID:24151582   PMID:24152290   PMID:24155921   PMID:24201117   PMID:24214631  
PMID:24221578   PMID:24276989   PMID:24289115   PMID:24292092   PMID:24292748   PMID:24303990   PMID:24308961   PMID:24315995   PMID:24316592   PMID:24328999   PMID:24338714   PMID:24354800  
PMID:24406338   PMID:24467668   PMID:24482023   PMID:24548868   PMID:24583705   PMID:24630394   PMID:24636474   PMID:24708420   PMID:24710569   PMID:24761979   PMID:24784317   PMID:24792626  
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PMID:26271985   PMID:26305693   PMID:26329520   PMID:26333292   PMID:26339391   PMID:26341640   PMID:26343373   PMID:26381169   PMID:26409874   PMID:26414764   PMID:26429911   PMID:26431581  
PMID:26434354   PMID:26437631   PMID:26439683   PMID:26441347   PMID:26462617   PMID:26464616   PMID:26473355   PMID:26475790   PMID:26507707   PMID:26517926   PMID:26538561   PMID:26584734  
PMID:26661331   PMID:26676638   PMID:26681759   PMID:26686090   PMID:26710835   PMID:26714416   PMID:26718402   PMID:26722524   PMID:26724144   PMID:26735609   PMID:26735887   PMID:26748374  
PMID:26753722   PMID:26781862   PMID:26794449   PMID:26809747   PMID:26823784   PMID:26862953   PMID:26875774   PMID:26882813   PMID:26885615   PMID:26918796   PMID:26921303   PMID:26931655  
PMID:26968188   PMID:27000869   PMID:27016413   PMID:27035558   PMID:27068374   PMID:27077371   PMID:27082299   PMID:27086659   PMID:27118257   PMID:27160497   PMID:27178149   PMID:27189164  
PMID:27238838   PMID:27260002   PMID:27260644   PMID:27306531   PMID:27310557   PMID:27339600   PMID:27377121   PMID:27378752   PMID:27431260   PMID:27432879   PMID:27457382   PMID:27466478  
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PMID:29620159   PMID:29661773   PMID:29696715   PMID:29705245   PMID:29718856   PMID:29739077   PMID:29773655   PMID:29804142   PMID:29851536   PMID:29878369   PMID:29885993   PMID:29890310  
PMID:29892012   PMID:29901207   PMID:29907586   PMID:29932060   PMID:29938865   PMID:30003112   PMID:30011797   PMID:30013989   PMID:30013992   PMID:30027704   PMID:30040923   PMID:30054281  
PMID:30057362   PMID:30077124   PMID:30104243   PMID:30125971   PMID:30129110   PMID:30142808   PMID:30168273   PMID:30229436   PMID:30233595   PMID:30292536   PMID:30318155   PMID:30333832  
PMID:30348891   PMID:30367023   PMID:30378283   PMID:30385752   PMID:30389786   PMID:30391932   PMID:30425718   PMID:30429036   PMID:30453448   PMID:30455694   PMID:30484986   PMID:30510991  
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PMID:30861202   PMID:30864147   PMID:30875252   PMID:30904437   PMID:30907193   PMID:30917315   PMID:30953385   PMID:30954385   PMID:30999388   PMID:31006654   PMID:31024549   PMID:31138426  
PMID:31164680   PMID:31364113   PMID:31379809   PMID:31384057   PMID:31386175   PMID:31414141   PMID:31422415   PMID:31515488   PMID:31567981   PMID:31570431   PMID:31608056   PMID:31630080  
PMID:31639448   PMID:31681337   PMID:31778687   PMID:31852159   PMID:31855573   PMID:31891895   PMID:31983096   PMID:31984437   PMID:31987907   PMID:32152765   PMID:32198183   PMID:32203210  
PMID:32233171   PMID:32234907   PMID:32245315   PMID:32283322   PMID:32296183   PMID:32312420   PMID:32385519   PMID:32401107   PMID:32475613   PMID:32499641   PMID:32513132   PMID:32522204  
PMID:32532834   PMID:32534707   PMID:32580398   PMID:32606302   PMID:32636834   PMID:32644293   PMID:32670274   PMID:32827684   PMID:33181260   PMID:33228011   PMID:33444682   PMID:33494935  


Genomics

Comparative Map Data
FOXP3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX49,250,436 - 49,270,477 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX49,250,438 - 49,270,477 (-)EnsemblGRCh38hg38GRCh38
GRCh38X49,250,436 - 49,264,932 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X49,106,899 - 49,121,172 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,994,354 - 49,008,232 (-)NCBINCBI36hg18NCBI36
Build 34X48,863,780 - 48,877,659NCBI
CeleraX52,543,105 - 52,557,472 (+)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,763,332 - 46,777,541 (-)NCBIHuRef
CHM1_1X49,139,199 - 49,153,588 (-)NCBICHM1_1
Foxp3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X7,445,915 - 7,461,482 (+)NCBIGRCm39mm39
GRCm39 EnsemblX7,439,883 - 7,461,484 (+)Ensembl
GRCm38X7,579,676 - 7,595,243 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX7,573,644 - 7,595,245 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X7,156,819 - 7,172,360 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X6,736,652 - 6,752,193 (+)NCBImm8
CeleraX3,876,537 - 3,892,077 (-)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX3.41NCBI
Foxp3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X14,908,494 - 14,924,994 (-)NCBI
Rnor_6.0 EnsemblX15,753,175 - 15,768,522 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X15,753,175 - 15,768,648 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X16,544,710 - 16,565,562 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X26,950,006 - 26,965,329 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX14,991,861 - 15,007,179 (-)NCBICelera
Cytogenetic MapXq12NCBI
Foxp3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955543731,707 - 742,606 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955543731,707 - 742,606 (-)NCBIChiLan1.0ChiLan1.0
FOXP3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X49,402,652 - 49,417,029 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX49,402,652 - 49,417,029 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X41,550,462 - 41,567,492 (-)NCBIMhudiblu_PPA_v0panPan3
FOXP3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X42,331,229 - 42,362,841 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX42,344,108 - 42,350,758 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX16,722,772 - 16,729,421 (-)NCBI
ROS_Cfam_1.0X42,484,818 - 42,504,672 (-)NCBI
UMICH_Zoey_3.1X42,469,693 - 42,476,343 (-)NCBI
UNSW_CanFamBas_1.0X42,457,152 - 42,463,801 (-)NCBI
UU_Cfam_GSD_1.0X42,552,106 - 42,558,755 (-)NCBI
Foxp3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X34,877,987 - 34,897,169 (-)NCBI
SpeTri2.0NW_0049367211,118,376 - 1,125,282 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FOXP3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX43,303,782 - 43,328,735 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X43,303,777 - 43,328,164 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X48,151,901 - 48,175,580 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FOXP3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X46,349,890 - 46,365,133 (-)NCBI
Foxp3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624893995,145 - 1,008,492 (-)NCBI

Position Markers
RH99318  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X49,106,650 - 49,106,816UniSTSGRCh37
Build 36X48,993,594 - 48,993,760RGDNCBI36
CeleraX52,557,553 - 52,557,719RGD
Cytogenetic MapXp11.23UniSTS
HuRefX46,763,085 - 46,763,251UniSTS
GeneMap99-GB4 RH MapX147.27UniSTS
FOXP3_3345  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X49,107,320 - 49,107,923UniSTSGRCh37
Build 36X48,994,264 - 48,994,867RGDNCBI36
CeleraX52,556,446 - 52,557,049RGD
HuRefX46,763,755 - 46,764,358UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR31hsa-miR-31-5pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blotFunctional MTI19408243
MIR31hsa-miR-31-3pMirecordsexternal_info{changed}NA19408243

Predicted Target Of
Summary Value
Count of predictions:2877
Count of miRNA genes:766
Interacting mature miRNAs:865
Transcripts:ENST00000376197, ENST00000376199, ENST00000376207, ENST00000455775, ENST00000518685, ENST00000557224
Prediction methods:Miranda, Pita, 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 pharyngeal arch
High
Medium 25 11 23 12 78 12 5 1 29 24
Low 533 814 1072 382 1416 313 2013 39 2353 222 977 1110 72 181 1020 2 2
Below cutoff 1848 2077 624 230 415 139 2197 1973 1354 193 444 465 100 1011 1632 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001114377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC232271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF235097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF277993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ184335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB342786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ010327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF534714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU855812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GN344065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA738833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB259913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP784358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP784359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP784360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP784361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP784362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP784363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP784364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP784365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP784366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP784367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP784368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP784369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000376197   ⟹   ENSP00000365369
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,251,334 - 49,259,240 (-)Ensembl
RefSeq Acc Id: ENST00000376199   ⟹   ENSP00000365372
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,251,090 - 49,264,800 (-)Ensembl
RefSeq Acc Id: ENST00000376207   ⟹   ENSP00000365380
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,250,438 - 49,264,710 (-)Ensembl
RefSeq Acc Id: ENST00000455775   ⟹   ENSP00000396415
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,251,295 - 49,264,668 (-)Ensembl
RefSeq Acc Id: ENST00000518685   ⟹   ENSP00000428952
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,251,334 - 49,258,505 (-)Ensembl
RefSeq Acc Id: ENST00000557224   ⟹   ENSP00000451208
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,251,334 - 49,264,710 (-)Ensembl
RefSeq Acc Id: ENST00000650877   ⟹   ENSP00000499100
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,258,343 - 49,270,477 (-)Ensembl
RefSeq Acc Id: ENST00000651307   ⟹   ENSP00000498454
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,251,278 - 49,258,527 (-)Ensembl
RefSeq Acc Id: ENST00000652559   ⟹   ENSP00000498236
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,256,789 - 49,264,680 (-)Ensembl
RefSeq Acc Id: ENST00000684155   ⟹   ENSP00000507726
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,257,545 - 49,264,710 (-)Ensembl
RefSeq Acc Id: NM_001114377   ⟹   NP_001107849
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,250,438 - 49,264,710 (-)NCBI
GRCh37X49,106,897 - 49,122,200 (-)NCBI
HuRefX46,763,332 - 46,777,541 (-)ENTREZGENE
CHM1_1X49,139,199 - 49,153,588 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014009   ⟹   NP_054728
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,250,438 - 49,264,710 (-)NCBI
GRCh37X49,106,897 - 49,122,200 (-)NCBI
Build 36X48,994,354 - 49,008,232 (-)NCBI Archive
HuRefX46,763,332 - 46,777,541 (-)ENTREZGENE
CHM1_1X49,139,199 - 49,153,588 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724533   ⟹   XP_006724596
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,250,436 - 49,264,932 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029567   ⟹   XP_016885056
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,250,436 - 49,264,621 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001107849   ⟸   NM_001114377
- Peptide Label: isoform b
- UniProtKB: Q9BZS1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_054728   ⟸   NM_014009
- Peptide Label: isoform a
- UniProtKB: Q9BZS1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006724596   ⟸   XM_006724533
- Peptide Label: isoform X1
- UniProtKB: B7ZLG1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885056   ⟸   XM_017029567
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000451208   ⟸   ENST00000557224
RefSeq Acc Id: ENSP00000428952   ⟸   ENST00000518685
RefSeq Acc Id: ENSP00000499100   ⟸   ENST00000650877
RefSeq Acc Id: ENSP00000365369   ⟸   ENST00000376197
RefSeq Acc Id: ENSP00000365372   ⟸   ENST00000376199
RefSeq Acc Id: ENSP00000365380   ⟸   ENST00000376207
RefSeq Acc Id: ENSP00000498454   ⟸   ENST00000651307
RefSeq Acc Id: ENSP00000396415   ⟸   ENST00000455775
RefSeq Acc Id: ENSP00000498236   ⟸   ENST00000652559
RefSeq Acc Id: ENSP00000507726   ⟸   ENST00000684155
Protein Domains
C2H2-type   Fork-head

Promoters
RGD ID:6808859
Promoter ID:HG_KWN:66760
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   NB4
Transcripts:UC010NIQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X49,001,821 - 49,002,321 (-)MPROMDB
RGD ID:6808858
Promoter ID:HG_KWN:66762
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:NM_001114377,   NM_014009
Position:
Human AssemblyChrPosition (strand)Source
Build 36X49,007,846 - 49,008,346 (-)MPROMDB
RGD ID:13605304
Promoter ID:EPDNEW_H28836
Type:multiple initiation site
Name:FOXP3_1
Description:forkhead box P3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,264,710 - 49,264,770EPDNEW

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
NM_014009.3(FOXP3):c.1189C>T (p.Arg397Trp) single nucleotide variant Hydrops fetalis [RCV001290142]|Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000012160] ChrX:49251441 [GRCh38]
ChrX:49107902 [GRCh37]
ChrX:Xp11.23
pathogenic
FOXP3, 20-BP DEL, 3-BP INS, NT1290 indel Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000012161] ChrX:Xp11.23-q13.3 pathogenic
NM_014009.3(FOXP3):c.1112T>G (p.Phe371Cys) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000012162] ChrX:49251698 [GRCh38]
ChrX:49108159 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_014009.3(FOXP3):c.1150G>A (p.Ala384Thr) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000012163] ChrX:49251480 [GRCh38]
ChrX:49107941 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_014009.4(FOXP3):c.1293_1294del (p.Ter432ThrextTer?) deletion Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000012164] ChrX:49251336..49251337 [GRCh38]
ChrX:49107797..49107798 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_014009.4(FOXP3):c.967+4A>G single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000012165] ChrX:49253913 [GRCh38]
ChrX:49110374 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_014009.3(FOXP3):c.751_753del (p.Glu251del) deletion Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000012166] ChrX:49255492..49255494 [GRCh38]
ChrX:49111953..49111955 [GRCh37]
ChrX:Xp11.23
pathogenic
FOXP3, 1-BP DEL deletion Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000012167] ChrX:Xp11.23-q13.3 pathogenic
NM_014009.3(FOXP3):c.1117_1118delinsGC (p.Phe373Ala) indel Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000012168] ChrX:49251692..49251693 [GRCh38]
ChrX:49108153..49108154 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_014009.3(FOXP3):c.970T>C (p.Phe324Leu) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000012169] ChrX:49253200 [GRCh38]
ChrX:49109661 [GRCh37]
ChrX:Xp11.23
pathogenic
FOXP3, 543C-T single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000012170] ChrX:Xp11.23-q13.3 pathogenic
NM_014009.3(FOXP3):c.3G>A (p.Met1Ile) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000012171] ChrX:49258503 [GRCh38]
ChrX:49114960 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_014009.3(FOXP3):c.1099T>C (p.Phe367Leu) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000012172] ChrX:49251711 [GRCh38]
ChrX:49108172 [GRCh37]
ChrX:Xp11.23
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)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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-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 Xp22.33-11.22(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:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp11.23-11.22(chrX:47859417-52789530)x3 copy number gain See cases [RCV000052390] ChrX:47859417..52789530 [GRCh38]
ChrX:47835880..52818575 [GRCh37]
ChrX:47603760..52835300 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48344666-52664916)x2 copy number gain See cases [RCV000051992] ChrX:48344666..52664916 [GRCh38]
ChrX:48204101..52616581 [GRCh37]
ChrX:48089045..52710691 [NCBI36]
ChrX:Xp11.23-11.22
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: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 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(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 Xp11.23(chrX:48612125-49292405)x2 copy number gain See cases [RCV000054185] ChrX:48612125..49292405 [GRCh38]
ChrX:48510591..49148873 [GRCh37]
ChrX:48355457..49035817 [NCBI36]
ChrX:Xp11.23
uncertain significance
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
NM_014009.3(FOXP3):c.157G>A (p.Gly53Arg) single nucleotide variant not provided [RCV000117095] ChrX:49258349 [GRCh38]
ChrX:49114806 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.4(FOXP3):c.543C>T (p.Ser181=) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000550727]|not provided [RCV000515082]|not specified [RCV000117096] ChrX:49256855 [GRCh38]
ChrX:49113312 [GRCh37]
ChrX:Xp11.23
benign|likely benign|conflicting interpretations of pathogenicity
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
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 Xp22.33-11.22(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: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-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: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
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 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 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 Xp11.23-11.22(chrX:48022053-52664916)x3 copy number gain See cases [RCV000135801] ChrX:48022053..52664916 [GRCh38]
ChrX:47881447..52616581 [GRCh37]
ChrX:47766391..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21
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: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 Xp11.23-11.22(chrX:48260861-52664916)x2 copy number gain See cases [RCV000136829] ChrX:48260861..52664916 [GRCh38]
ChrX:48120296..52616581 [GRCh37]
ChrX:48005240..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
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 Xp22.33-11.22(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 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
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 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 Xp11.23-11.22(chrX:48429509-52664916)x3 copy number gain See cases [RCV000138106] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52616581 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x1 copy number loss See cases [RCV000138107] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52693966 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48386298-52664916)x2 copy number gain See cases [RCV000139185] ChrX:48386298..52664916 [GRCh38]
ChrX:48245740..52616581 [GRCh37]
ChrX:48130684..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
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 Xp11.23-11.22(chrX:48953927-53273903)x2 copy number gain See cases [RCV000141869] ChrX:48953927..53273903 [GRCh38]
ChrX:48811187..53303085 [GRCh37]
ChrX:48696131..53319810 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(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)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_014009.3(FOXP3):c.434C>T (p.Ala145Val) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000193687] ChrX:49257447 [GRCh38]
ChrX:49113904 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_014009.3(FOXP3):c.727del (p.Glu243fs) deletion Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000194536] ChrX:49255723 [GRCh38]
ChrX:49112184 [GRCh37]
ChrX:Xp11.23
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
NM_014009.4(FOXP3):c.398C>T (p.Pro133Leu) single nucleotide variant Diabetes mellitus type 1 [RCV000258798] ChrX:49257483 [GRCh38]
ChrX:49113940 [GRCh37]
ChrX:Xp11.23
likely pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48310313-52614698)x1 copy number loss See cases [RCV000203435] ChrX:48310313..52614698 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
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:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [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: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:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [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:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_014009.3(FOXP3):c.*673G>A single nucleotide variant not specified [RCV000243437] ChrX:49250661 [GRCh38]
ChrX:49107122 [GRCh37]
ChrX:Xp11.23
likely benign
NM_014009.3(FOXP3):c.210+1G>C single nucleotide variant not provided [RCV000264548] ChrX:49258295 [GRCh38]
ChrX:49114752 [GRCh37]
ChrX:Xp11.23
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
NM_014009.3(FOXP3):c.1015C>G (p.Pro339Ala) single nucleotide variant not provided [RCV000387030] ChrX:49253155 [GRCh38]
ChrX:49109616 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_014009.3(FOXP3):c.430A>G (p.Lys144Glu) single nucleotide variant not provided [RCV000596436] ChrX:49257451 [GRCh38]
ChrX:49113908 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.3(FOXP3):c.455-6C>T single nucleotide variant not provided [RCV000734388] ChrX:49257018 [GRCh38]
ChrX:49113475 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_014009.3(FOXP3):c.1009C>T (p.Arg337Ter) single nucleotide variant not provided [RCV000413665] ChrX:49253161 [GRCh38]
ChrX:49109622 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_014009.3(FOXP3):c.1108A>G (p.Met370Val) single nucleotide variant not provided [RCV000414229] ChrX:49251702 [GRCh38]
ChrX:49108163 [GRCh37]
ChrX:Xp11.23
likely 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 Xp11.23-11.22(chrX:48317353-51497588)x3 copy number gain See cases [RCV000449147] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [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:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [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:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x2 copy number gain See cases [RCV000447617] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_014009.3(FOXP3):c.409G>A (p.Ala137Thr) single nucleotide variant Monogenic diabetes [RCV000445467] ChrX:49257472 [GRCh38]
ChrX:49113929 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_014009.3(FOXP3):c.1190G>A (p.Arg397Gln) single nucleotide variant Anemia [RCV000735408]|not provided [RCV000420714] ChrX:49251440 [GRCh38]
ChrX:49107901 [GRCh37]
ChrX:Xp11.23
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
NM_014009.3(FOXP3):c.597C>A (p.Cys199Ter) single nucleotide variant not provided [RCV000478450] ChrX:49256801 [GRCh38]
ChrX:49113258 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_014009.3(FOXP3):c.1076C>T (p.Thr359Ile) single nucleotide variant not provided [RCV000486769] ChrX:49251734 [GRCh38]
ChrX:49108195 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_014009.3(FOXP3):c.340C>T (p.Arg114Trp) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000970540]|not specified [RCV000501041] ChrX:49257541 [GRCh38]
ChrX:49113998 [GRCh37]
ChrX:Xp11.23
benign|uncertain significance
NM_014009.3(FOXP3):c.324G>A (p.Thr108=) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000905469]|not specified [RCV000503676] ChrX:49257557 [GRCh38]
ChrX:49114014 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_014009.3(FOXP3):c.1222G>A (p.Val408Met) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000504127] ChrX:49251408 [GRCh38]
ChrX:49107869 [GRCh37]
ChrX:Xp11.23
likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_014009.3(FOXP3):c.-353G>C single nucleotide variant not specified [RCV000502037] ChrX:49264991 [GRCh38]
ChrX:49121453 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_014009.3(FOXP3):c.-78C>T single nucleotide variant not specified [RCV000500612] ChrX:49264716 [GRCh38]
ChrX:49121178 [GRCh37]
ChrX:Xp11.23
benign|uncertain significance
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 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_014009.3(FOXP3):c.112G>T (p.Ala38Ser) single nucleotide variant not provided [RCV000635244] ChrX:49258394 [GRCh38]
ChrX:49114851 [GRCh37]
ChrX:Xp11.23
benign|uncertain significance
NM_014009.3(FOXP3):c.1129C>G (p.His377Asp) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000635246] ChrX:49251681 [GRCh38]
ChrX:49108142 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.3(FOXP3):c.773C>T (p.Ala258Val) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000635247] ChrX:49255472 [GRCh38]
ChrX:49111933 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.3(FOXP3):c.486C>T (p.Ser162=) single nucleotide variant not provided [RCV000635248] ChrX:49256981 [GRCh38]
ChrX:49113438 [GRCh37]
ChrX:Xp11.23
likely benign
NM_014009.3(FOXP3):c.30G>A (p.Ser10=) single nucleotide variant not provided [RCV000635249] ChrX:49258476 [GRCh38]
ChrX:49114933 [GRCh37]
ChrX:Xp11.23
likely benign
NM_014009.3(FOXP3):c.439C>G (p.Pro147Ala) single nucleotide variant not provided [RCV000594280] ChrX:49257442 [GRCh38]
ChrX:49113899 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.3(FOXP3):c.1135G>A (p.Ala379Thr) single nucleotide variant not provided [RCV000595099] ChrX:49251675 [GRCh38]
ChrX:49108136 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.3(FOXP3):c.984G>A (p.Met328Ile) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000524641] ChrX:49253186 [GRCh38]
ChrX:49109647 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.3(FOXP3):c.748_750del (p.Lys250del) deletion not provided [RCV000595405] ChrX:49255495..49255497 [GRCh38]
ChrX:49111956..49111958 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_014009.3(FOXP3):c.1036A>G (p.Ile346Val) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000635245] ChrX:49253134 [GRCh38]
ChrX:49109595 [GRCh37]
ChrX:Xp11.23
uncertain significance
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 Xp11.23-11.22(chrX:48224454-52813336)x3 copy number gain See cases [RCV000512224] ChrX:48224454..52813336 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4 copy number gain See cases [RCV000512561] ChrX:48290189..52154997 [GRCh37]
ChrX:Xp11.23-11.22
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
NM_014009.3(FOXP3):c.140G>T (p.Gly47Val) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000699173] ChrX:49258366 [GRCh38]
ChrX:49114823 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.3(FOXP3):c.210+1G>T single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000697871] ChrX:49258295 [GRCh38]
ChrX:49114752 [GRCh37]
ChrX:Xp11.23
pathogenic|likely pathogenic
NM_014009.4(FOXP3):c.176C>G single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000968776]|Monogenic diabetes [RCV000664161] ChrX:49258330 [GRCh38]
ChrX:49114787 [GRCh37]
ChrX:Xp11.23
benign|uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1 copy number loss not provided [RCV000684331] ChrX:48156672..52672728 [GRCh37]
ChrX:Xp11.23-11.22
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
NM_001114377.2(FOXP3):c.1165_1167delinsC (p.Cys389fs) indel Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000690380] ChrX:49251358..49251360 [GRCh38]
ChrX:49107819..49107821 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_014009.3(FOXP3):c.1247A>T (p.Lys416Ile) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000705409] ChrX:49251383 [GRCh38]
ChrX:49107844 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.3(FOXP3):c.694T>G (p.Cys232Gly) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000701902] ChrX:49255756 [GRCh38]
ChrX:49112217 [GRCh37]
ChrX:Xp11.23
likely pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
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:60262-155245765)x3 copy number gain not provided [RCV000753272] 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
Single allele duplication Autistic disorder of childhood onset [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
NM_014009.4(FOXP3):c.*878A>G single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001065770] ChrX:49250456 [GRCh38]
ChrX:49106917 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.4(FOXP3):c.691C>A (p.Gln231Lys) single nucleotide variant Non-obstructive azoospermia [RCV000999511] ChrX:49255759 [GRCh38]
ChrX:49112220 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_014009.4(FOXP3):c.155G>T (p.Gly52Val) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000885000]|Non-obstructive azoospermia [RCV000999510] ChrX:49258351 [GRCh38]
ChrX:49114808 [GRCh37]
ChrX:Xp11.23
pathogenic|benign
NM_014009.4(FOXP3):c.1051C>T (p.Leu351=) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000967721] ChrX:49251759 [GRCh38]
ChrX:49108220 [GRCh37]
ChrX:Xp11.23
benign
NM_014009.4(FOXP3):c.1044G>T (p.Trp348Cys) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001055025] ChrX:49253126 [GRCh38]
ChrX:49109587 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.3(FOXP3):c.551C>T (p.Ser184Leu) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000768225] ChrX:49256847 [GRCh38]
ChrX:49113304 [GRCh37]
ChrX:Xp11.23
uncertain significance
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_014009.4(FOXP3):c.1149C>T (p.Asn383=) single nucleotide variant not provided [RCV000921861] ChrX:49251481 [GRCh38]
ChrX:49107942 [GRCh37]
ChrX:Xp11.23
benign
NM_014009.4(FOXP3):c.495G>A (p.Pro165=) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000980758] ChrX:49256972 [GRCh38]
ChrX:49113429 [GRCh37]
ChrX:Xp11.23
benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_014009.3(FOXP3):c.631C>T (p.Pro211Ser) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000822520] ChrX:49256767 [GRCh38]
ChrX:49113224 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.3(FOXP3):c.928A>G (p.Arg310Gly) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000817347] ChrX:49253956 [GRCh38]
ChrX:49110417 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.3(FOXP3):c.736-1G>A single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000825005] ChrX:49255510 [GRCh38]
ChrX:49111971 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_014009.3(FOXP3):c.337G>T (p.Ala113Ser) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000797311] ChrX:49257544 [GRCh38]
ChrX:49114001 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.3(FOXP3):c.1040G>A (p.Arg347His) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000801492] ChrX:49253130 [GRCh38]
ChrX:49109591 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_014009.4(FOXP3):c.817-5C>T single nucleotide variant not provided [RCV000999429] ChrX:49254072 [GRCh38]
ChrX:49110533 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.3(FOXP3):c.542G>T (p.Ser181Ile) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000805851] ChrX:49256925 [GRCh38]
ChrX:49113382 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.4(FOXP3):c.552G>T (p.Ser184=) single nucleotide variant not provided [RCV000937698] ChrX:49256846 [GRCh38]
ChrX:49113303 [GRCh37]
ChrX:Xp11.23
likely benign
NM_014009.3(FOXP3):c.1079T>C (p.Leu360Pro) single nucleotide variant not provided [RCV000788813] ChrX:49251731 [GRCh38]
ChrX:49108192 [GRCh37]
ChrX:Xp11.23
likely 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
NM_014009.3(FOXP3):c.1200C>A (p.Ser400Arg) single nucleotide variant not provided [RCV000788899] ChrX:49251430 [GRCh38]
ChrX:49107891 [GRCh37]
ChrX:Xp11.23
uncertain significance
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
NM_014009.4(FOXP3):c.1116C>A (p.Ala372=) single nucleotide variant not provided [RCV000978900] ChrX:49251694 [GRCh38]
ChrX:49108155 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2 copy number gain not provided [RCV000847795] ChrX:48224266..52744574 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_014009.4(FOXP3):c.130A>G (p.Thr44Ala) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001231807] ChrX:49258376 [GRCh38]
ChrX:49114833 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.4(FOXP3):c.890G>C (p.Gly297Ala) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001222630] ChrX:49253994 [GRCh38]
ChrX:49110455 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.4(FOXP3):c.616_618del (p.Lys206del) deletion Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001222928] ChrX:49256780..49256782 [GRCh38]
ChrX:49113237..49113239 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.4(FOXP3):c.597C>T (p.Cys199=) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001225176] ChrX:49256801 [GRCh38]
ChrX:49113258 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.4(FOXP3):c.1280C>G (p.Pro427Arg) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001226162] ChrX:49251350 [GRCh38]
ChrX:49107811 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.4(FOXP3):c.805G>A (p.Ala269Thr) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001229072] ChrX:49255440 [GRCh38]
ChrX:49111901 [GRCh37]
ChrX:Xp11.23
uncertain significance
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-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_014009.4(FOXP3):c.-23+1G>T single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000853242] ChrX:49264660 [GRCh38]
ChrX:49121122 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_014009.4(FOXP3):c.361C>T (p.His121Tyr) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000908445] ChrX:49257520 [GRCh38]
ChrX:49113977 [GRCh37]
ChrX:Xp11.23
benign
NM_014009.4(FOXP3):c.1045-15_1045-9del deletion not provided [RCV000932422] ChrX:49251774..49251780 [GRCh38]
ChrX:49108235..49108241 [GRCh37]
ChrX:Xp11.23
likely benign
NM_014009.4(FOXP3):c.168_170CTC[1] (p.Ser60del) microsatellite Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000974698]|Monogenic diabetes [RCV001174438] ChrX:49258333..49258335 [GRCh38]
ChrX:49114790..49114792 [GRCh37]
ChrX:Xp11.23
benign|uncertain significance
NM_014009.4(FOXP3):c.129A>G (p.Gly43=) single nucleotide variant not provided [RCV000975832] ChrX:49258377 [GRCh38]
ChrX:49114834 [GRCh37]
ChrX:Xp11.23
likely benign
NM_014009.4(FOXP3):c.1241G>A (p.Arg414His) single nucleotide variant not provided [RCV000941779] ChrX:49251389 [GRCh38]
ChrX:49107850 [GRCh37]
ChrX:Xp11.23
benign
NM_014009.4(FOXP3):c.1031C>A (p.Thr344Lys) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001034846] ChrX:49253139 [GRCh38]
ChrX:49109600 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.4(FOXP3):c.967G>A (p.Glu323Lys) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001214333] ChrX:49253917 [GRCh38]
ChrX:49110378 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.4(FOXP3):c.506G>A (p.Cys169Tyr) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001049743] ChrX:49256961 [GRCh38]
ChrX:49113418 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.4(FOXP3):c.1027G>A (p.Ala343Thr) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001209537] ChrX:49253143 [GRCh38]
ChrX:49109604 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.4(FOXP3):c.816+6C>T single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001224825] ChrX:49255423 [GRCh38]
ChrX:49111884 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.4(FOXP3):c.142C>T (p.Arg48Ter) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001224826] ChrX:49258364 [GRCh38]
ChrX:49114821 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_014009.4(FOXP3):c.624C>T (p.Phe208=) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000956000] ChrX:49256774 [GRCh38]
ChrX:49113231 [GRCh37]
ChrX:Xp11.23
benign
NM_014009.4(FOXP3):c.895C>T (p.Arg299Trp) single nucleotide variant not provided [RCV000934383] ChrX:49253989 [GRCh38]
ChrX:49110450 [GRCh37]
ChrX:Xp11.23
likely benign
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
NM_014009.4(FOXP3):c.210+1G>A single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001035787] ChrX:49258295 [GRCh38]
ChrX:49114752 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_014009.4(FOXP3):c.1248A>T (p.Lys416Asn) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001034316] ChrX:49251382 [GRCh38]
ChrX:49107843 [GRCh37]
ChrX:Xp11.23
likely benign
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001204541] ChrX:49253160 [GRCh38]
ChrX:49109621 [GRCh37]
ChrX:Xp11.23
pathogenic|likely pathogenic
NM_014009.4(FOXP3):c.896G>A (p.Arg299Gln) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001230003] ChrX:49253988 [GRCh38]
ChrX:49110449 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.4(FOXP3):c.650A>G (p.His217Arg) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001217737] ChrX:49255800 [GRCh38]
ChrX:49112261 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3 copy number gain not provided [RCV001007303] ChrX:48307437..50657313 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_014009.4(FOXP3):c.451C>T (p.Pro151Ser) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001217233] ChrX:49257430 [GRCh38]
ChrX:49113887 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.4(FOXP3):c.1073G>A (p.Arg358Gln) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001059839] ChrX:49251737 [GRCh38]
ChrX:49108198 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.4(FOXP3):c.926G>A (p.Arg309Gln) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001054922] ChrX:49253958 [GRCh38]
ChrX:49110419 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_014009.4(FOXP3):c.119G>A (p.Gly40Asp) single nucleotide variant Inborn genetic diseases [RCV001266028] ChrX:49258387 [GRCh38]
ChrX:49114844 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2 copy number gain not provided [RCV001258953] ChrX:48102202..52685635 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2 copy number gain not provided [RCV001258954] ChrX:48178413..52686510 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_014009.4(FOXP3):c.1117TTC[1] (p.Phe374del) microsatellite Hydrops fetalis [RCV001257372] ChrX:49251688..49251690 [GRCh38]
ChrX:49108149..49108151 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_014009.4(FOXP3):c.977A>G (p.His326Arg) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001334727] ChrX:49253193 [GRCh38]
ChrX:49109654 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.4(FOXP3):c.1156C>T (p.Arg386Cys) single nucleotide variant not provided [RCV001268746] ChrX:49251474 [GRCh38]
ChrX:49107935 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_014009.4(FOXP3):c.967+3A>T single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001326559] ChrX:49253914 [GRCh38]
ChrX:49110375 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.4(FOXP3):c.253C>T (p.Arg85Trp) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001316091] ChrX:49257726 [GRCh38]
ChrX:49114183 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.4(FOXP3):c.102C>A (p.Asp34Glu) single nucleotide variant Diabetes mellitus type 1 [RCV001281015] ChrX:49258404 [GRCh38]
ChrX:49114861 [GRCh37]
ChrX:Xp11.23
uncertain significance
NC_000023.10:g.(?_48382160)_(49856876_?)dup duplication Neurodegeneration with brain iron accumulation 5 [RCV001305099]|SLC35A2-CDG [RCV001308190] ChrX:48382160..49856876 [GRCh37]
ChrX:Xp11.23-11.22
uncertain significance
NM_014009.4(FOXP3):c.508A>G (p.Thr170Ala) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001316532] ChrX:49256959 [GRCh38]
ChrX:49113416 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.4(FOXP3):c.1289_1293del (p.Gly430fs) deletion Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001340420] ChrX:49251337..49251341 [GRCh38]
ChrX:49107798..49107802 [GRCh37]
ChrX:Xp11.23
uncertain significance
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
NM_014009.4(FOXP3):c.543-3C>T single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001334726] ChrX:49256858 [GRCh38]
ChrX:49113315 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_014009.4(FOXP3):c.824C>T (p.Ser275Phe) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001309553] ChrX:49254060 [GRCh38]
ChrX:49110521 [GRCh37]
ChrX:Xp11.23
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6106 AgrOrtholog
COSMIC FOXP3 COSMIC
Ensembl Genes ENSG00000049768 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000365369 UniProtKB/TrEMBL
  ENSP00000365372 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000365380 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000396415 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000428952 UniProtKB/Swiss-Prot
  ENSP00000451208 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000498236 UniProtKB/TrEMBL
  ENSP00000498454 UniProtKB/TrEMBL
  ENSP00000499100 UniProtKB/TrEMBL
Ensembl Transcript ENST00000376197 UniProtKB/TrEMBL
  ENST00000376199 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000376207 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000455775 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000518685 UniProtKB/Swiss-Prot
  ENST00000557224 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000650877 UniProtKB/TrEMBL
  ENST00000651307 UniProtKB/TrEMBL
  ENST00000652559 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000049768 GTEx
HGNC ID HGNC:6106 ENTREZGENE
Human Proteome Map FOXP3 Human Proteome Map
InterPro Fork_head_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FOXP-CC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_fork_head_CS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:50943 UniProtKB/Swiss-Prot
NCBI Gene 50943 ENTREZGENE
OMIM 300292 OMIM
  304790 OMIM
Pfam Forkhead UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FOXP-CC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA201094 PharmGKB
PRINTS FORKHEAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FORK_HEAD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FORK_HEAD_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00339 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DFW6_HUMAN UniProtKB/TrEMBL
  A0A494BZV0_HUMAN UniProtKB/TrEMBL
  A0A494C0B0_HUMAN UniProtKB/TrEMBL
  A0A494C1K1_HUMAN UniProtKB/TrEMBL
  B7ZLG1 ENTREZGENE, UniProtKB/TrEMBL
  FOXP3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A5HJT1 UniProtKB/Swiss-Prot
  B7ZLG0 UniProtKB/Swiss-Prot
  B9UN80 UniProtKB/Swiss-Prot
  O60827 UniProtKB/Swiss-Prot
  Q14DD8 UniProtKB/Swiss-Prot
  Q4ZH51 UniProtKB/Swiss-Prot