IRAK1 (interleukin 1 receptor associated kinase 1) - Rat Genome Database

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Gene: IRAK1 (interleukin 1 receptor associated kinase 1) Homo sapiens
Analyze
Symbol: IRAK1
Name: interleukin 1 receptor associated kinase 1
RGD ID: 1348457
HGNC Page HGNC
Description: Exhibits protein heterodimerization activity; protein homodimerization activity; and protein serine/threonine kinase activity. Involved in several processes, including cell surface receptor signaling pathway; regulation of DNA-binding transcription factor activity; and regulation of signal transduction. Localizes to cytosol; nucleoplasm; and protein-containing complex. Implicated in ankylosing spondylitis; diffuse scleroderma; psoriatic arthritis; and squamous cell carcinoma. Biomarker of psoriasis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: interleukin-1 receptor-associated kinase 1; IRAK; IRAK-1; pelle; Pelle homolog
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 EnsemblX154,010,506 - 154,019,902 (-)EnsemblGRCh38hg38GRCh38
GRCh38X154,010,507 - 154,019,984 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,275,958 - 153,285,353 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,929,151 - 152,938,536 (-)NCBINCBI36hg18NCBI36
Build 34X152,796,808 - 152,806,189NCBI
CeleraX153,509,662 - 153,519,047 (-)NCBI
Cytogenetic MapXq28NCBI
HuRefX141,927,208 - 141,942,770 (-)NCBIHuRef
CHM1_1X153,150,366 - 153,159,748 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2-amino-2-deoxy-D-galactopyranose  (ISO)
2-methylcholine  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
5-fluorouracil  (EXP)
acrylamide  (ISO)
arsenous acid  (EXP)
atorvastatin calcium  (EXP)
atrazine  (EXP)
auranofin  (ISO)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bortezomib  (EXP)
cadmium dichloride  (ISO)
cadmium selenide  (EXP)
caffeine  (ISO)
cannabidiol  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
curcumin  (EXP,ISO)
cyclosporin A  (EXP,ISO)
deoxynivalenol  (ISO)
dextran  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (EXP)
doxorubicin  (EXP)
enalapril  (EXP)
enzyme inhibitor  (EXP)
erlotinib hydrochloride  (EXP)
ethanol  (ISO)
fenamidone  (ISO)
finasteride  (ISO)
flavonoids  (EXP)
flutamide  (ISO)
folic acid  (EXP,ISO)
Fusaric acid  (EXP)
genistein  (EXP)
ginsenoside Re  (ISO)
glafenine  (ISO)
glycyrrhetinate  (ISO)
glycyrrhetinic acid  (ISO)
helenalin  (ISO)
hydrogen peroxide  (EXP)
kaempferol  (EXP)
leflunomide  (ISO)
lipoarabinomannan  (ISO)
lipopolysaccharide  (EXP,ISO)
malathion  (EXP)
methotrexate  (EXP)
Monobutylphthalate  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
nefazodone  (ISO)
nicotine  (ISO)
nimesulide  (ISO)
o-anisidine  (EXP)
obeticholic acid  (EXP)
okadaic acid  (ISO)
paracetamol  (EXP,ISO)
pentachlorophenol  (ISO)
phorbol 13-acetate 12-myristate  (EXP,ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
progesterone  (EXP)
quercetin  (EXP)
resveratrol  (EXP,ISO)
rotenone  (EXP)
silicon dioxide  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
sunitinib  (EXP)
tacrolimus hydrate  (ISO)
telmisartan  (EXP)
tetrachloromethane  (ISO)
titanium atom  (ISO)
titanium dioxide  (EXP)
triptonide  (ISO)
Tylophorine  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP)
vorinostat  (EXP)
xanthones  (ISO)
zinc oxide  (ISO)
zinc protoporphyrin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activation of MAPK activity  (TAS)
activation of NF-kappaB-inducing kinase activity  (IDA)
aging  (IEA,ISO)
cellular response to heat  (IEA,ISO)
cellular response to hypoxia  (IEA,ISO)
cellular response to lipopolysaccharide  (IBA,ISO)
cytokine-mediated signaling pathway  (IBA,ISO)
innate immune response  (IBA,ISO)
interleukin-1-mediated signaling pathway  (IBA,IDA,IEA,IMP,ISO,TAS)
intracellular signal transduction  (IBA)
JNK cascade  (ISO,TAS)
lipopolysaccharide-mediated signaling pathway  (IMP,ISO)
MyD88-dependent toll-like receptor signaling pathway  (TAS)
negative regulation of apoptotic process  (TAS)
negative regulation of cholesterol efflux  (ISO)
negative regulation of NF-kappaB transcription factor activity  (IMP)
negative regulation of transcription, DNA-templated  (ISO)
nucleotide-binding oligomerization domain containing signaling pathway  (TAS)
positive regulation of I-kappaB kinase/NF-kappaB signaling  (IBA,IMP,TAS)
positive regulation of JUN kinase activity  (ISO)
positive regulation of leukocyte adhesion to vascular endothelial cell  (IMP)
positive regulation of MAP kinase activity  (IBA)
positive regulation of NF-kappaB transcription factor activity  (IBA,IDA,ISO,TAS)
positive regulation of NIK/NF-kappaB signaling  (IMP)
positive regulation of smooth muscle cell proliferation  (IEA,ISO)
positive regulation of type I interferon production  (IMP)
protein autophosphorylation  (IDA,ISO)
protein phosphorylation  (IEA,ISO,TAS)
regulation of cytokine-mediated signaling pathway  (IMP)
response to interleukin-1  (IMP)
response to lipopolysaccharide  (IMP,ISO)
response to peptidoglycan  (ISO)
toll-like receptor 2 signaling pathway  (IBA,IMP,ISO)
toll-like receptor 4 signaling pathway  (IBA,ISO)
toll-like receptor 9 signaling pathway  (TAS)
toll-like receptor signaling pathway  (TAS)
type I interferon signaling pathway  (IMP)
viral process  (IEA)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
1. Belarbi K, etal., J Neuroinflammation. 2012 Jan 25;9:23. doi: 10.1186/1742-2094-9-23.
2. Chao W, etal., J Biol Chem. 2005 Jun 10;280(23):21997-2005. Epub 2005 Mar 26.
3. Chatzikyriakidou A, etal., Scand J Immunol. 2010 May;71(5):382-5. doi: 10.1111/j.1365-3083.2010.02381.x.
4. Dieude P, etal., Arthritis Rheum. 2011 Dec;63(12):3979-87. doi: 10.1002/art.30640.
5. GOA_HUMAN data from the GO Consortium
6. Halkein J, etal., J Clin Invest. 2013 May 1;123(5):2143-54. doi: 10.1172/JCI64365. Epub 2013 Apr 24.
7. Hung PS, etal., PLoS One. 2013 Nov 26;8(11):e79926. doi: 10.1371/journal.pone.0079926.
8. Kumar H, etal., Int Rev Immunol. 2011 Feb;30(1):16-34.
9. Pipeline to import KEGG annotations from KEGG into RGD
10. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
11. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. RGD automated import pipeline for gene-chemical interactions
13. Thomas JA, etal., Am J Physiol Heart Circ Physiol. 2003 Aug;285(2):H597-606.
14. Verstrepen L, etal., Cell Mol Life Sci. 2008 Oct;65(19):2964-78.
15. Weber A, etal., Sci Signal. 2010 Jan 19;3(105):cm1. doi: 10.1126/scisignal.3105cm1.
16. Xia P, etal., Immunol Lett. 2012 Dec 17;148(2):151-62. doi: 10.1016/j.imlet.2012.09.004. Epub 2012 Sep 24.
17. Yang YF, etal., Neuroscience. 2011 Nov 24;196:25-34. doi: 10.1016/j.neuroscience.2011.08.059. Epub 2011 Sep 10.
Additional References at PubMed
PMID:8599092   PMID:8837778   PMID:9252186   PMID:9371760   PMID:9374458   PMID:9426216   PMID:9575168   PMID:9625770   PMID:9915784   PMID:9918122   PMID:10022904   PMID:10191251  
PMID:10346818   PMID:10383454   PMID:10395652   PMID:10395695   PMID:10465784   PMID:10723722   PMID:10747026   PMID:10823834   PMID:10854325   PMID:10899313   PMID:10920205   PMID:11076863  
PMID:11096118   PMID:11244088   PMID:11259596   PMID:11287640   PMID:11397809   PMID:11518704   PMID:11544529   PMID:11701612   PMID:11744690   PMID:11777917   PMID:11828002   PMID:11937546  
PMID:11953430   PMID:11960013   PMID:11976320   PMID:12034707   PMID:12054681   PMID:12055225   PMID:12138165   PMID:12242293   PMID:12370331   PMID:12391239   PMID:12477932   PMID:12496252  
PMID:12538665   PMID:12566447   PMID:12609980   PMID:12619925   PMID:12721283   PMID:12724322   PMID:12856330   PMID:12860405   PMID:12874243   PMID:12925853   PMID:14625308   PMID:14684752  
PMID:14752294   PMID:15069085   PMID:15084582   PMID:15276183   PMID:15388348   PMID:15465816   PMID:15489334   PMID:15489336   PMID:15523691   PMID:15647277   PMID:15691841   PMID:15767370  
PMID:15829295   PMID:15894263   PMID:15917247   PMID:16024789   PMID:16052631   PMID:16094384   PMID:16107720   PMID:16203735   PMID:16286016   PMID:16381901   PMID:16461741   PMID:16477006  
PMID:16528020   PMID:16537705   PMID:16690127   PMID:16831874   PMID:16884718   PMID:16907704   PMID:16951688   PMID:16997282   PMID:17053167   PMID:17113392   PMID:17197697   PMID:17276401  
PMID:17314511   PMID:17382928   PMID:17548806   PMID:17567694   PMID:17675297   PMID:17785851   PMID:17878161   PMID:17905570   PMID:17920759   PMID:17997719   PMID:18050247   PMID:18056395  
PMID:18070982   PMID:18079163   PMID:18180283   PMID:18221795   PMID:18234474   PMID:18276832   PMID:18326498   PMID:18347055   PMID:18411265   PMID:18474871   PMID:18524972   PMID:18566305  
PMID:18987746   PMID:19025640   PMID:19026643   PMID:19081057   PMID:19104650   PMID:19166926   PMID:19166933   PMID:19181383   PMID:19264966   PMID:19264973   PMID:19282863   PMID:19288030  
PMID:19329491   PMID:19453261   PMID:19505919   PMID:19675569   PMID:19716405   PMID:19838195   PMID:19913121   PMID:19948975   PMID:20043910   PMID:20044140   PMID:20056178   PMID:20092701  
PMID:20400509   PMID:20448286   PMID:20463618   PMID:20542134   PMID:20562859   PMID:20619458   PMID:20628086   PMID:20676093   PMID:20870441   PMID:20890200   PMID:20937840   PMID:21145461  
PMID:21160042   PMID:21204785   PMID:21220427   PMID:21435586   PMID:21537341   PMID:21640790   PMID:21708940   PMID:21743479   PMID:21804018   PMID:21873635   PMID:21903422   PMID:21911421  
PMID:21933552   PMID:22011580   PMID:22033216   PMID:22033459   PMID:22037600   PMID:22059479   PMID:22158417   PMID:22447928   PMID:22451023   PMID:22658674   PMID:22678362   PMID:22759955  
PMID:22851693   PMID:22896623   PMID:22904187   PMID:22904263   PMID:23041547   PMID:23233309   PMID:23244239   PMID:23381138   PMID:23383610   PMID:23396947   PMID:23428850   PMID:23435933  
PMID:23444193   PMID:23633945   PMID:23776175   PMID:23794009   PMID:23867959   PMID:23986494   PMID:24390342   PMID:24434549   PMID:24469975   PMID:24491438   PMID:24690905   PMID:24709033  
PMID:24711643   PMID:24735611   PMID:24857403   PMID:25027698   PMID:25203887   PMID:25269878   PMID:25294684   PMID:25341731   PMID:25458699   PMID:25468996   PMID:25472883   PMID:25505246  
PMID:25515214   PMID:25550857   PMID:25852190   PMID:25922567   PMID:25955717   PMID:26075815   PMID:26082489   PMID:26142671   PMID:26151128   PMID:26320741   PMID:26503059   PMID:26527316  
PMID:26638075   PMID:26673132   PMID:26673895   PMID:26949251   PMID:26972000   PMID:27270491   PMID:27338330   PMID:27454822   PMID:27497395   PMID:27533309   PMID:27581002   PMID:27609421  
PMID:27619757   PMID:27790836   PMID:27922090   PMID:28060792   PMID:28065597   PMID:28069966   PMID:28207326   PMID:28271077   PMID:28380382   PMID:28436939   PMID:28506791   PMID:28512203  
PMID:28587864   PMID:28675297   PMID:28718761   PMID:28731142   PMID:28780618   PMID:28882891   PMID:28980703   PMID:29048684   PMID:29053956   PMID:29483095   PMID:29568061   PMID:29611775  
PMID:29693168   PMID:29734142   PMID:29743719   PMID:29777862   PMID:29883609   PMID:30060033   PMID:30115681   PMID:30143585   PMID:30166453   PMID:30209976   PMID:30224945   PMID:30308218  
PMID:30361091   PMID:30619736   PMID:30664786   PMID:30684281   PMID:30833792   PMID:30872404   PMID:31073040   PMID:31077459   PMID:31091453   PMID:31222667   PMID:31300519   PMID:31612500  
PMID:31638178   PMID:31662568   PMID:31702785   PMID:31748848   PMID:31753913   PMID:31776466   PMID:31921110   PMID:31930677   PMID:32053511   PMID:32161170   PMID:32173002   PMID:32238461  
PMID:32498091   PMID:32555330  


Genomics

Comparative Map Data
IRAK1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX154,010,506 - 154,019,902 (-)EnsemblGRCh38hg38GRCh38
GRCh38X154,010,507 - 154,019,984 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,275,958 - 153,285,353 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,929,151 - 152,938,536 (-)NCBINCBI36hg18NCBI36
Build 34X152,796,808 - 152,806,189NCBI
CeleraX153,509,662 - 153,519,047 (-)NCBI
Cytogenetic MapXq28NCBI
HuRefX141,927,208 - 141,942,770 (-)NCBIHuRef
CHM1_1X153,150,366 - 153,159,748 (-)NCBICHM1_1
Irak1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X73,057,520 - 73,067,527 (-)NCBIGRCm39mm39
GRCm39 EnsemblX73,057,520 - 73,067,524 (-)Ensembl
GRCm38X74,013,914 - 74,023,921 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX74,013,914 - 74,023,918 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X71,259,253 - 71,269,260 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X70,267,692 - 70,276,641 (-)NCBImm8
CeleraX65,266,305 - 65,276,311 (-)NCBICelera
Cytogenetic MapXA7.3NCBI
cM MapX37.61NCBI
Irak1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X151,768,621 - 151,778,521 (-)NCBI
Rnor_6.0 EnsemblX156,716,604 - 156,725,977 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X156,716,469 - 156,726,367 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01152,464,303 - 152,474,397 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X159,960,184 - 159,969,180 (-)NCBIRGSC3.4rn4RGSC3.4
Celera1136,116,523 - 136,125,519 (+)NCBICelera
Cytogenetic MapXq37NCBI
Irak1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955580661,609 - 668,622 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955580663,651 - 668,622 (-)NCBIChiLan1.0ChiLan1.0
IRAK1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X153,446,827 - 153,458,189 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX153,446,827 - 153,460,602 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X143,560,802 - 143,570,185 (-)NCBIMhudiblu_PPA_v0panPan3
IRAK1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X121,853,340 - 121,862,582 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX121,819,432 - 121,862,576 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX107,180,516 - 107,191,312 (-)NCBI
ROS_Cfam_1.0X124,993,051 - 125,003,852 (-)NCBI
UMICH_Zoey_3.1X120,762,292 - 120,773,086 (-)NCBI
UNSW_CanFamBas_1.0X123,277,991 - 123,288,705 (-)NCBI
UU_Cfam_GSD_1.0X123,039,025 - 123,049,823 (-)NCBI
Irak1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X119,153,636 - 119,162,536 (-)NCBI
SpeTri2.0NW_004936809891,407 - 900,311 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IRAK1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX124,717,612 - 124,724,860 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X124,717,604 - 124,724,855 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X142,283,035 - 142,290,286 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IRAK1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X128,433,462 - 128,443,126 (-)NCBI
ChlSab1.1 EnsemblX128,433,465 - 128,443,043 (-)Ensembl
Irak1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624946613,392 - 618,459 (-)NCBI

Position Markers
RH80551  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,275,978 - 153,276,213UniSTSGRCh37
Build 36X152,929,172 - 152,929,407RGDNCBI36
CeleraX153,509,683 - 153,509,918RGD
Cytogenetic MapXq28UniSTS
HuRefX141,927,229 - 141,927,464UniSTS
GeneMap99-GB4 RH MapX356.76UniSTS
RH80797  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,277,071 - 153,277,314UniSTSGRCh37
Build 36X152,930,265 - 152,930,508RGDNCBI36
CeleraX153,510,776 - 153,511,019RGD
Cytogenetic MapXq28UniSTS
HuRefX141,928,322 - 141,928,565UniSTS
GeneMap99-GB4 RH MapX352.59UniSTS
RH80656  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,290,289 - 153,290,388UniSTSGRCh37
Build 36X152,943,483 - 152,943,582RGDNCBI36
CeleraX153,523,994 - 153,524,093RGD
Cytogenetic MapXq28UniSTS
HuRefX141,941,082 - 141,941,181UniSTS
GeneMap99-GB4 RH MapX352.92UniSTS
G42895  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,275,974 - 153,276,857UniSTSGRCh37
Build 36X152,929,168 - 152,930,051RGDNCBI36
CeleraX153,509,679 - 153,510,562RGD
Cytogenetic MapXq28UniSTS
HuRefX141,927,225 - 141,928,108UniSTS
DXS1012E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,293,331 - 153,293,448UniSTSGRCh37
Build 36X152,946,525 - 152,946,642RGDNCBI36
CeleraX153,527,036 - 153,527,153RGD
Cytogenetic MapXq28UniSTS
HuRefX141,944,124 - 141,944,241UniSTS
DXS7069  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,292,376 - 153,292,512UniSTSGRCh37
Build 36X152,945,570 - 152,945,706RGDNCBI36
CeleraX153,526,081 - 153,526,217RGD
Cytogenetic MapXq28UniSTS
HuRefX141,943,169 - 141,943,305UniSTS
G65801  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,285,763 - 153,286,420UniSTSGRCh37
Build 36X152,938,957 - 152,939,614RGDNCBI36
CeleraX153,519,468 - 153,520,125RGD
Cytogenetic MapXq28UniSTS
SHGC-171695  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,275,881 - 153,276,178UniSTSGRCh37
Build 36X152,929,075 - 152,929,372RGDNCBI36
CeleraX153,509,586 - 153,509,883RGD
Cytogenetic MapXq28UniSTS
HuRefX141,927,132 - 141,927,429UniSTS
ECD01063  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,288,316 - 153,289,195UniSTSGRCh37
Build 36X152,941,510 - 152,942,389RGDNCBI36
CeleraX153,522,021 - 153,522,900RGD
Cytogenetic MapXq28UniSTS
HuRefX141,939,109 - 141,939,988UniSTS
ECD01621  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,289,290 - 153,290,149UniSTSGRCh37
Build 36X152,942,484 - 152,943,343RGDNCBI36
CeleraX153,522,995 - 153,523,854RGD
Cytogenetic MapXq28UniSTS
HuRefX141,940,083 - 141,940,942UniSTS
ECD01941  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,286,470 - 153,287,317UniSTSGRCh37
Build 36X152,939,664 - 152,940,511RGDNCBI36
CeleraX153,520,175 - 153,521,022RGD
Cytogenetic MapXq28UniSTS
ECD02651  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,283,357 - 153,284,179UniSTSGRCh37
Build 36X152,936,551 - 152,937,373RGDNCBI36
CeleraX153,517,062 - 153,517,884RGD
Cytogenetic MapXq28UniSTS
HuRefX141,934,604 - 141,935,426UniSTS
ECD03207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,291,951 - 153,292,753UniSTSGRCh37
Build 36X152,945,145 - 152,945,947RGDNCBI36
CeleraX153,525,656 - 153,526,458RGD
Cytogenetic MapXq28UniSTS
HuRefX141,942,744 - 141,943,546UniSTS
ECD03233  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,291,101 - 153,291,902UniSTSGRCh37
Build 36X152,944,295 - 152,945,096RGDNCBI36
CeleraX153,524,806 - 153,525,607RGD
Cytogenetic MapXq28UniSTS
HuRefX141,941,894 - 141,942,695UniSTS
ECD03607  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,292,857 - 153,293,646UniSTSGRCh37
Build 36X152,946,051 - 152,946,840RGDNCBI36
CeleraX153,526,562 - 153,527,351RGD
Cytogenetic MapXq28UniSTS
HuRefX141,943,650 - 141,944,439UniSTS
ECD04118  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,290,287 - 153,291,061UniSTSGRCh37
Build 36X152,943,481 - 152,944,255RGDNCBI36
CeleraX153,523,992 - 153,524,766RGD
Cytogenetic MapXq28UniSTS
HuRefX141,941,080 - 141,941,854UniSTS
ECD04883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,285,679 - 153,286,430UniSTSGRCh37
Build 36X152,938,873 - 152,939,624RGDNCBI36
CeleraX153,519,384 - 153,520,135RGD
Cytogenetic MapXq28UniSTS
ECD06264  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,281,842 - 153,282,555UniSTSGRCh37
Build 36X152,935,036 - 152,935,749RGDNCBI36
CeleraX153,515,547 - 153,516,260RGD
Cytogenetic MapXq28UniSTS
HuRefX141,933,090 - 141,933,803UniSTS
ECD07562  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,277,664 - 153,278,342UniSTSGRCh37
Build 36X152,930,858 - 152,931,536RGDNCBI36
CeleraX153,511,369 - 153,512,047RGD
Cytogenetic MapXq28UniSTS
HuRefX141,928,915 - 141,929,593UniSTS
ECD07711  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,284,267 - 153,284,941UniSTSGRCh37
Build 36X152,937,461 - 152,938,135RGDNCBI36
CeleraX153,517,972 - 153,518,646RGD
Cytogenetic MapXq28UniSTS
ECD07751  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,278,393 - 153,279,066UniSTSGRCh37
Build 36X152,931,587 - 152,932,260RGDNCBI36
CeleraX153,512,098 - 153,512,771RGD
Cytogenetic MapXq28UniSTS
HuRefX141,929,644 - 141,930,317UniSTS
ECD08306  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,275,845 - 153,276,503UniSTSGRCh37
Build 36X152,929,039 - 152,929,697RGDNCBI36
CeleraX153,509,550 - 153,510,208RGD
Cytogenetic MapXq28UniSTS
HuRefX141,927,096 - 141,927,754UniSTS
ECD08607  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,279,150 - 153,279,800UniSTSGRCh37
Build 36X152,932,344 - 152,932,994RGDNCBI36
CeleraX153,512,855 - 153,513,505RGD
Cytogenetic MapXq28UniSTS
HuRefX141,930,401 - 141,931,051UniSTS
ECD11068  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,276,905 - 153,277,488UniSTSGRCh37
Build 36X152,930,099 - 152,930,682RGDNCBI36
CeleraX153,510,610 - 153,511,193RGD
Cytogenetic MapXq28UniSTS
HuRefX141,928,156 - 141,928,739UniSTS
ECD12173  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,281,070 - 153,281,621UniSTSGRCh37
Build 36X152,934,264 - 152,934,815RGDNCBI36
CeleraX153,514,775 - 153,515,326RGD
Cytogenetic MapXq28UniSTS
HuRefX141,932,318 - 141,932,869UniSTS
ECD20465  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,282,661 - 153,282,944UniSTSGRCh37
Build 36X152,935,855 - 152,936,138RGDNCBI36
CeleraX153,516,366 - 153,516,649RGD
Cytogenetic MapXq28UniSTS
HuRefX141,933,909 - 141,934,192UniSTS
ECD20486  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,280,634 - 153,280,916UniSTSGRCh37
Build 36X152,933,828 - 152,934,110RGDNCBI36
CeleraX153,514,339 - 153,514,621RGD
Cytogenetic MapXq28UniSTS
HuRefX141,931,882 - 141,932,164UniSTS
ECD23323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,280,327 - 153,280,519UniSTSGRCh37
Build 36X152,933,521 - 152,933,713RGDNCBI36
CeleraX153,514,032 - 153,514,224RGD
Cytogenetic MapXq28UniSTS
HuRefX141,931,575 - 141,931,767UniSTS
RH45050  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,289,615 - 153,289,716UniSTSGRCh37
Build 36X152,942,809 - 152,942,910RGDNCBI36
CeleraX153,523,320 - 153,523,421RGD
Cytogenetic MapXq28UniSTS
HuRefX141,940,408 - 141,940,509UniSTS
GeneMap99-GB4 RH MapX350.95UniSTS
REN88509  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,275,527 - 153,275,755UniSTSGRCh37
Build 36X152,928,721 - 152,928,949RGDNCBI36
CeleraX153,509,232 - 153,509,460RGD
Cytogenetic MapXq28UniSTS
HuRefX141,926,778 - 141,927,006UniSTS
REN88510  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,275,754 - 153,275,998UniSTSGRCh37
Build 36X152,928,948 - 152,929,192RGDNCBI36
CeleraX153,509,459 - 153,509,703RGD
Cytogenetic MapXq28UniSTS
HuRefX141,927,005 - 141,927,249UniSTS
REN88511  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,275,985 - 153,276,244UniSTSGRCh37
Build 36X152,929,179 - 152,929,438RGDNCBI36
CeleraX153,509,690 - 153,509,949RGD
Cytogenetic MapXq28UniSTS
HuRefX141,927,236 - 141,927,495UniSTS
REN88512  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,276,226 - 153,276,475UniSTSGRCh37
Build 36X152,929,420 - 152,929,669RGDNCBI36
CeleraX153,509,931 - 153,510,180RGD
Cytogenetic MapXq28UniSTS
HuRefX141,927,477 - 141,927,726UniSTS
REN88513  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,276,411 - 153,276,655UniSTSGRCh37
Build 36X152,929,605 - 152,929,849RGDNCBI36
CeleraX153,510,116 - 153,510,360RGD
Cytogenetic MapXq28UniSTS
HuRefX141,927,662 - 141,927,906UniSTS
REN88514  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,276,625 - 153,276,862UniSTSGRCh37
Build 36X152,929,819 - 152,930,056RGDNCBI36
CeleraX153,510,330 - 153,510,567RGD
Cytogenetic MapXq28UniSTS
HuRefX141,927,876 - 141,928,113UniSTS
REN88515  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,276,839 - 153,277,092UniSTSGRCh37
Build 36X152,930,033 - 152,930,286RGDNCBI36
CeleraX153,510,544 - 153,510,797RGD
Cytogenetic MapXq28UniSTS
HuRefX141,928,090 - 141,928,343UniSTS
REN88516  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,277,068 - 153,277,325UniSTSGRCh37
Build 36X152,930,262 - 152,930,519RGDNCBI36
CeleraX153,510,773 - 153,511,030RGD
Cytogenetic MapXq28UniSTS
HuRefX141,928,319 - 141,928,576UniSTS
REN88517  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,277,305 - 153,277,549UniSTSGRCh37
Build 36X152,930,499 - 152,930,743RGDNCBI36
CeleraX153,511,010 - 153,511,254RGD
Cytogenetic MapXq28UniSTS
HuRefX141,928,556 - 141,928,800UniSTS
REN88518  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,277,472 - 153,277,713UniSTSGRCh37
Build 36X152,930,666 - 152,930,907RGDNCBI36
CeleraX153,511,177 - 153,511,418RGD
Cytogenetic MapXq28UniSTS
HuRefX141,928,723 - 141,928,964UniSTS
REN88519  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,277,711 - 153,277,936UniSTSGRCh37
Build 36X152,930,905 - 152,931,130RGDNCBI36
CeleraX153,511,416 - 153,511,641RGD
Cytogenetic MapXq28UniSTS
HuRefX141,928,962 - 141,929,187UniSTS
REN88520  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,277,914 - 153,278,166UniSTSGRCh37
Build 36X152,931,108 - 152,931,360RGDNCBI36
CeleraX153,511,619 - 153,511,871RGD
Cytogenetic MapXq28UniSTS
HuRefX141,929,165 - 141,929,417UniSTS
REN88521  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,278,146 - 153,278,413UniSTSGRCh37
Build 36X152,931,340 - 152,931,607RGDNCBI36
CeleraX153,511,851 - 153,512,118RGD
Cytogenetic MapXq28UniSTS
HuRefX141,929,397 - 141,929,664UniSTS
REN88522  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,278,373 - 153,278,616UniSTSGRCh37
Build 36X152,931,567 - 152,931,810RGDNCBI36
CeleraX153,512,078 - 153,512,321RGD
Cytogenetic MapXq28UniSTS
HuRefX141,929,624 - 141,929,867UniSTS
REN88523  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,278,535 - 153,278,794UniSTSGRCh37
Build 36X152,931,729 - 152,931,988RGDNCBI36
CeleraX153,512,240 - 153,512,499RGD
Cytogenetic MapXq28UniSTS
HuRefX141,929,786 - 141,930,045UniSTS
REN88524  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,278,771 - 153,279,016UniSTSGRCh37
Build 36X152,931,965 - 152,932,210RGDNCBI36
CeleraX153,512,476 - 153,512,721RGD
Cytogenetic MapXq28UniSTS
HuRefX141,930,022 - 141,930,267UniSTS
REN88525  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,278,986 - 153,279,235UniSTSGRCh37
Build 36X152,932,180 - 152,932,429RGDNCBI36
CeleraX153,512,691 - 153,512,940RGD
Cytogenetic MapXq28UniSTS
HuRefX141,930,237 - 141,930,486UniSTS
REN88526  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,279,192 - 153,279,437UniSTSGRCh37
Build 36X152,932,386 - 152,932,631RGDNCBI36
CeleraX153,512,897 - 153,513,142RGD
Cytogenetic MapXq28UniSTS
HuRefX141,930,443 - 141,930,688UniSTS
REN88527  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,279,415 - 153,279,685UniSTSGRCh37
Build 36X152,932,609 - 152,932,879RGDNCBI36
CeleraX153,513,120 - 153,513,390RGD
Cytogenetic MapXq28UniSTS
HuRefX141,930,666 - 141,930,936UniSTS
REN88528  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,279,665 - 153,279,901UniSTSGRCh37
Build 36X152,932,859 - 152,933,095RGDNCBI36
CeleraX153,513,370 - 153,513,606RGD
Cytogenetic MapXq28UniSTS
HuRefX141,930,916 - 141,931,149UniSTS
REN88529  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,279,875 - 153,280,140UniSTSGRCh37
Build 36X152,933,069 - 152,933,334RGDNCBI36
CeleraX153,513,580 - 153,513,845RGD
Cytogenetic MapXq28UniSTS
HuRefX141,931,123 - 141,931,388UniSTS
REN88530  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,280,121 - 153,280,371UniSTSGRCh37
Build 36X152,933,315 - 152,933,565RGDNCBI36
CeleraX153,513,826 - 153,514,076RGD
Cytogenetic MapXq28UniSTS
HuRefX141,931,369 - 141,931,619UniSTS
REN88531  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,280,342 - 153,280,583UniSTSGRCh37
Build 36X152,933,536 - 152,933,777RGDNCBI36
CeleraX153,514,047 - 153,514,288RGD
Cytogenetic MapXq28UniSTS
HuRefX141,931,590 - 141,931,831UniSTS
REN88532  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,280,556 - 153,280,815UniSTSGRCh37
Build 36X152,933,750 - 152,934,009RGDNCBI36
CeleraX153,514,261 - 153,514,520RGD
Cytogenetic MapXq28UniSTS
HuRefX141,931,804 - 141,932,063UniSTS
REN88533  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,280,795 - 153,281,032UniSTSGRCh37
Build 36X152,933,989 - 152,934,226RGDNCBI36
CeleraX153,514,500 - 153,514,737RGD
Cytogenetic MapXq28UniSTS
HuRefX141,932,043 - 141,932,280UniSTS
REN88534  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,281,003 - 153,281,228UniSTSGRCh37
Build 36X152,934,197 - 152,934,422RGDNCBI36
CeleraX153,514,708 - 153,514,933RGD
Cytogenetic MapXq28UniSTS
HuRefX141,932,251 - 141,932,476UniSTS
REN88535  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,281,187 - 153,281,420UniSTSGRCh37
Build 36X152,934,381 - 152,934,614RGDNCBI36
CeleraX153,514,892 - 153,515,125RGD
Cytogenetic MapXq28UniSTS
HuRefX141,932,435 - 141,932,668UniSTS
REN88536  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,281,401 - 153,281,662UniSTSGRCh37
Build 36X152,934,595 - 152,934,856RGDNCBI36
CeleraX153,515,106 - 153,515,367RGD
Cytogenetic MapXq28UniSTS
HuRefX141,932,649 - 141,932,910UniSTS
REN88537  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,281,639 - 153,281,863UniSTSGRCh37
Build 36X152,934,833 - 152,935,057RGDNCBI36
CeleraX153,515,344 - 153,515,568RGD
Cytogenetic MapXq28UniSTS
HuRefX141,932,887 - 141,933,111UniSTS
REN88538  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,281,842 - 153,282,114UniSTSGRCh37
Build 36X152,935,036 - 152,935,308RGDNCBI36
CeleraX153,515,547 - 153,515,819RGD
Cytogenetic MapXq28UniSTS
HuRefX141,933,090 - 141,933,362UniSTS
REN88539  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,282,092 - 153,282,342UniSTSGRCh37
Build 36X152,935,286 - 152,935,536RGDNCBI36
CeleraX153,515,797 - 153,516,047RGD
Cytogenetic MapXq28UniSTS
HuRefX141,933,340 - 141,933,590UniSTS
REN88540  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,282,321 - 153,282,593UniSTSGRCh37
Build 36X152,935,515 - 152,935,787RGDNCBI36
CeleraX153,516,026 - 153,516,298RGD
Cytogenetic MapXq28UniSTS
HuRefX141,933,569 - 141,933,841UniSTS
REN88541  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,282,568 - 153,282,808UniSTSGRCh37
Build 36X152,935,762 - 152,936,002RGDNCBI36
CeleraX153,516,273 - 153,516,513RGD
Cytogenetic MapXq28UniSTS
HuRefX141,933,816 - 141,934,056UniSTS
REN88542  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,282,739 - 153,282,967UniSTSGRCh37
Build 36X152,935,933 - 152,936,161RGDNCBI36
CeleraX153,516,444 - 153,516,672RGD
Cytogenetic MapXq28UniSTS
HuRefX141,933,987 - 141,934,215UniSTS
REN88543  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,283,313 - 153,283,537UniSTSGRCh37
Build 36X152,936,507 - 152,936,731RGDNCBI36
CeleraX153,517,018 - 153,517,242RGD
Cytogenetic MapXq28UniSTS
HuRefX141,934,560 - 141,934,784UniSTS
REN88544  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,283,532 - 153,283,783UniSTSGRCh37
Build 36X152,936,726 - 152,936,977RGDNCBI36
CeleraX153,517,237 - 153,517,488RGD
Cytogenetic MapXq28UniSTS
HuRefX141,934,779 - 141,935,030UniSTS
REN88545  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,283,772 - 153,284,010UniSTSGRCh37
Build 36X152,936,966 - 152,937,204RGDNCBI36
CeleraX153,517,477 - 153,517,715RGD
Cytogenetic MapXq28UniSTS
HuRefX141,935,019 - 141,935,257UniSTS
REN88546  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,283,987 - 153,284,231UniSTSGRCh37
Build 36X152,937,181 - 152,937,425RGDNCBI36
CeleraX153,517,692 - 153,517,936RGD
Cytogenetic MapXq28UniSTS
HuRefX141,935,234 - 141,935,478UniSTS
REN88547  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,284,205 - 153,284,441UniSTSGRCh37
Build 36X152,937,399 - 152,937,635RGDNCBI36
CeleraX153,517,910 - 153,518,146RGD
Cytogenetic MapXq28UniSTS
REN88548  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,284,429 - 153,284,664UniSTSGRCh37
Build 36X152,937,623 - 152,937,858RGDNCBI36
CeleraX153,518,134 - 153,518,369RGD
Cytogenetic MapXq28UniSTS
REN88549  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,284,591 - 153,284,815UniSTSGRCh37
Build 36X152,937,785 - 152,938,009RGDNCBI36
CeleraX153,518,296 - 153,518,520RGD
Cytogenetic MapXq28UniSTS
REN88550  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,284,923 - 153,285,168UniSTSGRCh37
Build 36X152,938,117 - 152,938,362RGDNCBI36
CeleraX153,518,628 - 153,518,873RGD
Cytogenetic MapXq28UniSTS
REN88551  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,284,960 - 153,285,185UniSTSGRCh37
Build 36X152,938,154 - 152,938,379RGDNCBI36
CeleraX153,518,665 - 153,518,890RGD
Cytogenetic MapXq28UniSTS
REN88552  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,285,654 - 153,285,885UniSTSGRCh37
Build 36X152,938,848 - 152,939,079RGDNCBI36
CeleraX153,519,359 - 153,519,590RGD
Cytogenetic MapXq28UniSTS
REN88553  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,285,865 - 153,286,089UniSTSGRCh37
Build 36X152,939,059 - 152,939,283RGDNCBI36
CeleraX153,519,570 - 153,519,794RGD
Cytogenetic MapXq28UniSTS
REN88554  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,286,062 - 153,286,309UniSTSGRCh37
Build 36X152,939,256 - 152,939,503RGDNCBI36
CeleraX153,519,767 - 153,520,014RGD
Cytogenetic MapXq28UniSTS
REN88555  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,286,250 - 153,286,506UniSTSGRCh37
Build 36X152,939,444 - 152,939,700RGDNCBI36
CeleraX153,519,955 - 153,520,211RGD
Cytogenetic MapXq28UniSTS
REN88556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,286,483 - 153,286,730UniSTSGRCh37
Build 36X152,939,677 - 152,939,924RGDNCBI36
CeleraX153,520,188 - 153,520,435RGD
Cytogenetic MapXq28UniSTS
REN88557  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,286,708 - 153,286,960UniSTSGRCh37
Build 36X152,939,902 - 152,940,154RGDNCBI36
CeleraX153,520,413 - 153,520,665RGD
Cytogenetic MapXq28UniSTS
REN88558  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,286,934 - 153,287,182UniSTSGRCh37
Build 36X152,940,128 - 152,940,376RGDNCBI36
CeleraX153,520,639 - 153,520,887RGD
Cytogenetic MapXq28UniSTS
REN88562  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,287,888 - 153,288,112UniSTSGRCh37
Build 36X152,941,082 - 152,941,306RGDNCBI36
CeleraX153,521,593 - 153,521,817RGD
Cytogenetic MapXq28UniSTS
HuRefX141,938,681 - 141,938,905UniSTS
REN88563  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,288,078 - 153,288,327UniSTSGRCh37
Build 36X152,941,272 - 152,941,521RGDNCBI36
CeleraX153,521,783 - 153,522,032RGD
Cytogenetic MapXq28UniSTS
HuRefX141,938,871 - 141,939,120UniSTS
REN88564  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,288,321 - 153,288,550UniSTSGRCh37
Build 36X152,941,515 - 152,941,744RGDNCBI36
CeleraX153,522,026 - 153,522,255RGD
Cytogenetic MapXq28UniSTS
HuRefX141,939,114 - 141,939,343UniSTS
REN88565  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,288,522 - 153,288,768UniSTSGRCh37
Build 36X152,941,716 - 152,941,962RGDNCBI36
CeleraX153,522,227 - 153,522,473RGD
Cytogenetic MapXq28UniSTS
HuRefX141,939,315 - 141,939,561UniSTS
REN88566  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,288,752 - 153,289,011UniSTSGRCh37
Build 36X152,941,946 - 152,942,205RGDNCBI36
CeleraX153,522,457 - 153,522,716RGD
Cytogenetic MapXq28UniSTS
HuRefX141,939,545 - 141,939,804UniSTS
REN88567  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,288,986 - 153,289,233UniSTSGRCh37
Build 36X152,942,180 - 152,942,427RGDNCBI36
CeleraX153,522,691 - 153,522,938RGD
Cytogenetic MapXq28UniSTS
HuRefX141,939,779 - 141,940,026UniSTS
REN88568  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,289,214 - 153,289,461UniSTSGRCh37
Build 36X152,942,408 - 152,942,655RGDNCBI36
CeleraX153,522,919 - 153,523,166RGD
Cytogenetic MapXq28UniSTS
HuRefX141,940,007 - 141,940,254UniSTS
REN88569  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,289,439 - 153,289,686UniSTSGRCh37
Build 36X152,942,633 - 152,942,880RGDNCBI36
CeleraX153,523,144 - 153,523,391RGD
Cytogenetic MapXq28UniSTS
HuRefX141,940,232 - 141,940,479UniSTS
REN88570  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,289,654 - 153,289,904UniSTSGRCh37
Build 36X152,942,848 - 152,943,098RGDNCBI36
CeleraX153,523,359 - 153,523,609RGD
Cytogenetic MapXq28UniSTS
HuRefX141,940,447 - 141,940,697UniSTS
REN88572  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,290,095 - 153,290,322UniSTSGRCh37
Build 36X152,943,289 - 152,943,516RGDNCBI36
CeleraX153,523,800 - 153,524,027RGD
Cytogenetic MapXq28UniSTS
HuRefX141,940,888 - 141,941,115UniSTS
REN88573  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,290,290 - 153,290,523UniSTSGRCh37
Build 36X152,943,484 - 152,943,717RGDNCBI36
CeleraX153,523,995 - 153,524,228RGD
Cytogenetic MapXq28UniSTS
HuRefX141,941,083 - 141,941,316UniSTS
REN88574  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,290,512 - 153,290,778UniSTSGRCh37
Build 36X152,943,706 - 152,943,972RGDNCBI36
CeleraX153,524,217 - 153,524,483RGD
Cytogenetic MapXq28UniSTS
HuRefX141,941,305 - 141,941,571UniSTS
REN88575  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,290,758 - 153,290,999UniSTSGRCh37
Build 36X152,943,952 - 152,944,193RGDNCBI36
CeleraX153,524,463 - 153,524,704RGD
Cytogenetic MapXq28UniSTS
HuRefX141,941,551 - 141,941,792UniSTS
REN88576  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,290,976 - 153,291,226UniSTSGRCh37
Build 36X152,944,170 - 152,944,420RGDNCBI36
CeleraX153,524,681 - 153,524,931RGD
Cytogenetic MapXq28UniSTS
HuRefX141,941,769 - 141,942,019UniSTS
REN88577  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,291,204 - 153,291,451UniSTSGRCh37
Build 36X152,944,398 - 152,944,645RGDNCBI36
CeleraX153,524,909 - 153,525,156RGD
Cytogenetic MapXq28UniSTS
HuRefX141,941,997 - 141,942,244UniSTS
REN88578  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,291,419 - 153,291,665UniSTSGRCh37
Build 36X152,944,613 - 152,944,859RGDNCBI36
CeleraX153,525,124 - 153,525,370RGD
Cytogenetic MapXq28UniSTS
HuRefX141,942,212 - 141,942,458UniSTS
REN88579  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,291,595 - 153,291,851UniSTSGRCh37
Build 36X152,944,789 - 152,945,045RGDNCBI36
CeleraX153,525,300 - 153,525,556RGD
Cytogenetic MapXq28UniSTS
HuRefX141,942,388 - 141,942,644UniSTS
REN88580  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,291,828 - 153,292,064UniSTSGRCh37
Build 36X152,945,022 - 152,945,258RGDNCBI36
CeleraX153,525,533 - 153,525,769RGD
Cytogenetic MapXq28UniSTS
HuRefX141,942,621 - 141,942,857UniSTS
REN88581  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,292,051 - 153,292,297UniSTSGRCh37
Build 36X152,945,245 - 152,945,491RGDNCBI36
CeleraX153,525,756 - 153,526,002RGD
Cytogenetic MapXq28UniSTS
HuRefX141,942,844 - 141,943,090UniSTS
REN88582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,292,275 - 153,292,545UniSTSGRCh37
Build 36X152,945,469 - 152,945,739RGDNCBI36
CeleraX153,525,980 - 153,526,250RGD
Cytogenetic MapXq28UniSTS
HuRefX141,943,068 - 141,943,338UniSTS
REN88583  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,292,521 - 153,292,779UniSTSGRCh37
Build 36X152,945,715 - 152,945,973RGDNCBI36
CeleraX153,526,226 - 153,526,484RGD
Cytogenetic MapXq28UniSTS
HuRefX141,943,314 - 141,943,572UniSTS
REN88584  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,292,748 - 153,292,990UniSTSGRCh37
Build 36X152,945,942 - 152,946,184RGDNCBI36
CeleraX153,526,453 - 153,526,695RGD
Cytogenetic MapXq28UniSTS
HuRefX141,943,541 - 141,943,783UniSTS
REN88585  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,292,968 - 153,293,220UniSTSGRCh37
Build 36X152,946,162 - 152,946,414RGDNCBI36
CeleraX153,526,673 - 153,526,925RGD
Cytogenetic MapXq28UniSTS
HuRefX141,943,761 - 141,944,013UniSTS
REN88586  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,293,212 - 153,293,467UniSTSGRCh37
Build 36X152,946,406 - 152,946,661RGDNCBI36
CeleraX153,526,917 - 153,527,172RGD
Cytogenetic MapXq28UniSTS
HuRefX141,944,005 - 141,944,260UniSTS
REN88587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,293,440 - 153,293,697UniSTSGRCh37
Build 36X152,946,634 - 152,946,891RGDNCBI36
CeleraX153,527,145 - 153,527,402RGD
Cytogenetic MapXq28UniSTS
HuRefX141,944,233 - 141,944,490UniSTS
REN88588  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,293,691 - 153,293,946UniSTSGRCh37
Build 36X152,946,885 - 152,947,140RGDNCBI36
CeleraX153,527,396 - 153,527,651RGD
Cytogenetic MapXq28UniSTS
HuRefX141,944,484 - 141,944,739UniSTS
stSG603762  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,275,845 - 153,276,934UniSTSGRCh37
Build 36X152,929,039 - 152,930,128RGDNCBI36
CeleraX153,509,550 - 153,510,639RGD
HuRefX141,927,096 - 141,928,185UniSTS
stSG603763  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,276,915 - 153,278,412UniSTSGRCh37
Build 36X152,930,109 - 152,931,606RGDNCBI36
CeleraX153,510,620 - 153,512,117RGD
HuRefX141,928,166 - 141,929,663UniSTS
stSG603764  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,278,393 - 153,279,444UniSTSGRCh37
Build 36X152,931,587 - 152,932,638RGDNCBI36
CeleraX153,512,098 - 153,513,149RGD
HuRefX141,929,644 - 141,930,695UniSTS
stSG603765  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,279,593 - 153,280,933UniSTSGRCh37
Build 36X152,932,787 - 152,934,127RGDNCBI36
CeleraX153,513,298 - 153,514,638RGD
HuRefX141,930,844 - 141,932,181UniSTS
stSG603766  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,280,914 - 153,282,120UniSTSGRCh37
Build 36X152,934,108 - 152,935,314RGDNCBI36
CeleraX153,514,619 - 153,515,825RGD
HuRefX141,932,162 - 141,933,368UniSTS
stSG603770  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,284,644 - 153,286,059UniSTSGRCh37
Build 36X152,937,838 - 152,939,253RGDNCBI36
CeleraX153,518,349 - 153,519,764RGD
stSG603771  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,286,040 - 153,287,196UniSTSGRCh37
Build 36X152,939,234 - 152,940,390RGDNCBI36
CeleraX153,519,745 - 153,520,901RGD

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR146Ahsa-miR-146a-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI21632853
MIR146Ahsa-miR-146a-5pTarbaseexternal_infoWesternblitPOSITIVE
MIR146Ahsa-miR-146a-3pMirecordsexternal_info{changed}NA18759964

Predicted Target Of
Summary Value
Count of predictions:8417
Count of miRNA genes:1250
Interacting mature miRNAs:1638
Transcripts:ENST00000369973, ENST00000369974, ENST00000369980, ENST00000393682, ENST00000393687, ENST00000429936, ENST00000437278, ENST00000443220, ENST00000444230, ENST00000444254, ENST00000455690, ENST00000463031, ENST00000467236, ENST00000477274
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2 1 1 6 3
Medium 2427 2768 1653 554 1917 396 4355 2035 3470 412 1440 1602 171 1204 2788 4
Low 8 217 70 70 32 69 1 159 249 6 9 4 1 2
Below cutoff 3 3 2 1 13 1 5 1 3 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000369973   ⟹   ENSP00000358990
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,011,688 - 154,019,897 (-)Ensembl
RefSeq Acc Id: ENST00000369974   ⟹   ENSP00000358991
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,010,506 - 154,019,876 (-)Ensembl
RefSeq Acc Id: ENST00000369980   ⟹   ENSP00000358997
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,010,507 - 154,019,902 (-)Ensembl
RefSeq Acc Id: ENST00000393687   ⟹   ENSP00000377291
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,011,859 - 154,019,812 (-)Ensembl
RefSeq Acc Id: ENST00000429936   ⟹   ENSP00000392662
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,011,859 - 154,019,812 (-)Ensembl
RefSeq Acc Id: ENST00000437278   ⟹   ENSP00000406249
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,011,827 - 154,016,994 (-)Ensembl
RefSeq Acc Id: ENST00000443220   ⟹   ENSP00000403730
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,013,043 - 154,018,638 (-)Ensembl
RefSeq Acc Id: ENST00000444230   ⟹   ENSP00000399974
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,010,520 - 154,019,800 (-)Ensembl
RefSeq Acc Id: ENST00000444254   ⟹   ENSP00000410953
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,011,731 - 154,014,246 (-)Ensembl
RefSeq Acc Id: ENST00000455690   ⟹   ENSP00000411809
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,011,563 - 154,016,073 (-)Ensembl
RefSeq Acc Id: ENST00000463031
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,018,346 - 154,018,945 (-)Ensembl
RefSeq Acc Id: ENST00000467236
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,013,336 - 154,014,377 (-)Ensembl
RefSeq Acc Id: ENST00000477274
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,010,722 - 154,018,647 (-)Ensembl
RefSeq Acc Id: NM_001025242   ⟹   NP_001020413
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,010,507 - 154,019,902 (-)NCBI
GRCh37X153,275,957 - 153,285,342 (-)ENTREZGENE
Build 36X152,929,151 - 152,938,536 (-)NCBI Archive
HuRefX141,927,208 - 141,942,770 (-)ENTREZGENE
CHM1_1X153,150,366 - 153,159,748 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001025243   ⟹   NP_001020414
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,010,507 - 154,019,902 (-)NCBI
GRCh37X153,275,957 - 153,285,342 (-)NCBI
Build 36X152,929,151 - 152,938,536 (-)NCBI Archive
HuRefX141,927,208 - 141,942,770 (-)ENTREZGENE
CHM1_1X153,150,366 - 153,159,748 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001569   ⟹   NP_001560
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,010,507 - 154,019,902 (-)NCBI
GRCh37X153,275,957 - 153,285,342 (-)ENTREZGENE
Build 36X152,929,151 - 152,938,536 (-)NCBI Archive
HuRefX141,927,208 - 141,942,770 (-)ENTREZGENE
CHM1_1X153,150,366 - 153,159,748 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274668   ⟹   XP_005274725
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,010,507 - 154,019,984 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001020414   ⟸   NM_001025243
- Peptide Label: isoform 3
- UniProtKB: P51617 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001020413   ⟸   NM_001025242
- Peptide Label: isoform 2
- UniProtKB: P51617 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001560   ⟸   NM_001569
- Peptide Label: isoform 1
- UniProtKB: P51617 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274725   ⟸   XM_005274668
- Peptide Label: isoform X1
- UniProtKB: D3YTB5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000392662   ⟸   ENST00000429936
RefSeq Acc Id: ENSP00000411809   ⟸   ENST00000455690
RefSeq Acc Id: ENSP00000403730   ⟸   ENST00000443220
RefSeq Acc Id: ENSP00000399974   ⟸   ENST00000444230
RefSeq Acc Id: ENSP00000410953   ⟸   ENST00000444254
RefSeq Acc Id: ENSP00000377291   ⟸   ENST00000393687
RefSeq Acc Id: ENSP00000358997   ⟸   ENST00000369980
RefSeq Acc Id: ENSP00000358991   ⟸   ENST00000369974
RefSeq Acc Id: ENSP00000358990   ⟸   ENST00000369973
RefSeq Acc Id: ENSP00000406249   ⟸   ENST00000437278
Protein Domains
Death   Protein kinase

Promoters
RGD ID:6808957
Promoter ID:HG_KWN:68602
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000061135,   OTTHUMT00000061139
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,932,556 - 152,934,007 (-)MPROMDB
RGD ID:6808958
Promoter ID:HG_KWN:68603
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000129556
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,934,356 - 152,935,657 (-)MPROMDB
RGD ID:6808956
Promoter ID:HG_KWN:68604
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000061132
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,935,631 - 152,936,131 (-)MPROMDB
RGD ID:6808993
Promoter ID:HG_KWN:68605
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000369973,   ENST00000390190,   ENST00000393682,   NM_001025242,   NM_001025243,   OTTHUMT00000061133,   OTTHUMT00000061134,   OTTHUMT00000061143,   OTTHUMT00000130133,   OTTHUMT00000130134,   UC004FJU.1,   UC010NUR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,937,286 - 152,939,607 (-)MPROMDB
RGD ID:13628574
Promoter ID:EPDNEW_H29525
Type:initiation region
Name:IRAK1_1
Description:interleukin 1 receptor associated kinase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29526  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,019,897 - 154,019,957EPDNEW
RGD ID:13628576
Promoter ID:EPDNEW_H29526
Type:initiation region
Name:IRAK1_2
Description:interleukin 1 receptor associated kinase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29525  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,020,630 - 154,020,690EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX: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 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28
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 Xq28(chrX:153929344-154367160)x3 copy number gain See cases [RCV000050852] ChrX:153929344..154367160 [GRCh38]
ChrX:153333946..153595528 [GRCh37]
ChrX:152847991..153248722 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28
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 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 copy number loss See cases [RCV000051750] ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
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 Xq28(chrX:153722500-154367160)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]|See cases [RCV000052524] ChrX:153722500..154367160 [GRCh38]
ChrX:152641149..153248722 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153769547-154394658)x2 copy number gain See cases [RCV000052525] ChrX:153769547..154394658 [GRCh38]
ChrX:152688196..153276194 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153777340-154397779)x3 copy number gain See cases [RCV000052527] ChrX:153777340..154397779 [GRCh38]
ChrX:153333946..153626120 [GRCh37]
ChrX:152695989..153279314 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153787044-154397779)x2 copy number gain See cases [RCV000052528] ChrX:153787044..154397779 [GRCh38]
ChrX:153333946..153626120 [GRCh37]
ChrX:152705693..153279314 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153932045-155611794)x3 copy number gain See cases [RCV000052529] ChrX:153932045..155611794 [GRCh38]
ChrX:152850692..154494649 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 copy number gain See cases [RCV000052491] ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153504314-154144797)x2 copy number gain See cases [RCV000052492] ChrX:153504314..154144797 [GRCh38]
ChrX:152422966..153063464 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153585420-154427385)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]|See cases [RCV000052521] ChrX:153585420..154427385 [GRCh38]
ChrX:152864376..153655730 [GRCh37]
ChrX:152504072..153308924 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153590730-154380801)x2 copy number gain See cases [RCV000052522] ChrX:153590730..154380801 [GRCh38]
ChrX:152864376..153609161 [GRCh37]
ChrX:152509382..153262355 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153714542-154380803)x2 copy number gain See cases [RCV000052523] ChrX:153714542..154380803 [GRCh38]
ChrX:152633191..153262357 [NCBI36]
ChrX:Xq28
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-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-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
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)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
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 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq28(chrX:153855152-154092314)x2 copy number gain See cases [RCV000135840] ChrX:153855152..154092314 [GRCh38]
ChrX:152773801..153010966 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-154604471)x2 copy number gain See cases [RCV000135451] ChrX:153296806..154604471 [GRCh38]
ChrX:152568327..153832724 [GRCh37]
ChrX:152215458..153485918 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
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 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
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 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
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 Xq28(chrX:153322656-155522304)x2 copy number gain See cases [RCV000136716] ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 copy number loss See cases [RCV000136718] ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153667032-154394658)x2 copy number gain See cases [RCV000137536] ChrX:153667032..154394658 [GRCh38]
ChrX:152585681..153276194 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153813894-154140759)x2 copy number gain See cases [RCV000137153] ChrX:153813894..154140759 [GRCh38]
ChrX:152732543..153059427 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153727116-154555423)x2 copy number gain See cases [RCV000138393] ChrX:153727116..154555423 [GRCh38]
ChrX:153333946..153783638 [GRCh37]
ChrX:152645765..153436832 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
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 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
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 Xq28(chrX:153813894-154383071)x2 copy number gain See cases [RCV000140524] ChrX:153813894..154383071 [GRCh38]
ChrX:153079349..153611431 [GRCh37]
ChrX:152732543..153264625 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153451351-154230630)x2 copy number gain See cases [RCV000140532] ChrX:153451351..154230630 [GRCh38]
ChrX:152716809..153496099 [GRCh37]
ChrX:152370003..153149293 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153802827-154294817)x2 copy number gain See cases [RCV000140537] ChrX:153802827..154294817 [GRCh38]
ChrX:153068282..153523170 [GRCh37]
ChrX:152721476..153176364 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
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 Xq28(chrX:154017291-154394658)x3 copy number gain See cases [RCV000141234] ChrX:154017291..154394658 [GRCh38]
ChrX:153333946..153623000 [GRCh37]
ChrX:152935936..153276194 [NCBI36]
ChrX:Xq28
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-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 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153861449-154140759)x2 copy number gain See cases [RCV000143114] ChrX:153861449..154140759 [GRCh38]
ChrX:152780098..153059427 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
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 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:154004083-154055920)x1 copy number loss See cases [RCV000143726] ChrX:154004083..154055920 [GRCh38]
ChrX:153269534..153321371 [GRCh37]
ChrX:152922728..152974565 [NCBI36]
ChrX:Xq28
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
nsv1197494 deletion Rett syndrome [RCV000170117] ChrX:154015897..154030807 [GRCh38]
ChrX:153281346..153296256 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.11:g.154016489_154067020delinsTTTCCGACAAAGGT indel Rett syndrome [RCV000170165] ChrX:154016489..154067020 [GRCh38]
ChrX:153281940..153332471 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
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-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:153047627-153555804)x2 copy number gain See cases [RCV000239929] ChrX:153047627..153555804 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152993910-153555804)x2 copy number gain See cases [RCV000240396] ChrX:152993910..153555804 [GRCh37]
ChrX:Xq28
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 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
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 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:152970475-153524157)x2 copy number gain See cases [RCV000447506] ChrX:152970475..153524157 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28
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
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:152886474-153368990)x2 copy number gain See cases [RCV000448796] ChrX:152886474..153368990 [GRCh37]
ChrX:Xq28
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 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153097608-153681801)x2 copy number gain See cases [RCV000510362] ChrX:153097608..153681801 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
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 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
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 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 copy number loss See cases [RCV000510866] ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153253477-153438781)x3 copy number gain See cases [RCV000510923] ChrX:153253477..153438781 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:152899437-153624564)x2 copy number gain See cases [RCV000512403] ChrX:152899437..153624564 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NC_000023.10:g.(?_153128098)_(153599633_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000645140] ChrX:153128098..153599633 [GRCh37]
ChrX:Xq28
pathogenic
NM_001569.4(IRAK1):c.712G>A (p.Val238Met) single nucleotide variant not provided [RCV000513528] ChrX:154018616 [GRCh38]
ChrX:153284067 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153138672-153665655) copy number gain Microcytic anemia [RCV000626549] ChrX:153138672..153665655 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152628304-153594168)x2 copy number gain not provided [RCV000684738] ChrX:152628304..153594168 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:152941302-153438781)x3 copy number gain not provided [RCV000684739] ChrX:152941302..153438781 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:153123907-153431401)x2 copy number gain not provided [RCV000684741] ChrX:153123907..153431401 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_152954010)_(153599633_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000707841] ChrX:152954010..153599633 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153128823)_(153416424_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000708432] ChrX:153128823..153416424 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153128118)_(153416424_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000707765] ChrX:153128118..153416424 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153170600)_(153409869_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000708104] ChrX:153170600..153409869 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153184286)_(153409869_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000708531] ChrX:153184286..153409869 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152806628-153626649)x2 copy number gain not provided [RCV000753922] ChrX:152806628..153626649 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153184816-153626794)x3 copy number gain not provided [RCV000753930] ChrX:153184816..153626794 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
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 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
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
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_001569.4(IRAK1):c.1104C>T (p.Ala368=) single nucleotide variant not provided [RCV000950035] ChrX:154016569 [GRCh38]
ChrX:153282020 [GRCh37]
ChrX:Xq28
benign
NM_001569.4(IRAK1):c.1140G>A (p.Arg380=) single nucleotide variant not provided [RCV000898198] ChrX:154016533 [GRCh38]
ChrX:153281984 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:153174571-153609996) copy number gain Syndromic X-linked intellectual disability Lubs type [RCV000767661] ChrX:153174571..153609996 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153281481-153296901)x1 copy number loss not provided [RCV000996093] ChrX:153281481..153296901 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001569.4(IRAK1):c.1874C>T (p.Thr625Met) single nucleotide variant not provided [RCV000969876] ChrX:154013099 [GRCh38]
ChrX:153278550 [GRCh37]
ChrX:Xq28
benign
NM_001569.4(IRAK1):c.1701A>G (p.Pro567=) single nucleotide variant not provided [RCV000930848] ChrX:154013272 [GRCh38]
ChrX:153278723 [GRCh37]
ChrX:Xq28
likely benign
NM_001569.4(IRAK1):c.607T>A (p.Cys203Ser) single nucleotide variant not provided [RCV000962822] ChrX:154018721 [GRCh38]
ChrX:153284172 [GRCh37]
ChrX:Xq28
benign
NM_001569.4(IRAK1):c.361A>C (p.Ile121Leu) single nucleotide variant not provided [RCV000968501] ChrX:154019272 [GRCh38]
ChrX:153284723 [GRCh37]
ChrX:Xq28
benign
NM_001569.4(IRAK1):c.581G>A (p.Arg194His) single nucleotide variant not provided [RCV000968813] ChrX:154018747 [GRCh38]
ChrX:153284198 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NC_000023.10:g.(?_153128108)_(153609567_?)dup duplication Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000795425] ChrX:153128108..153609567 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153128098)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000801357] ChrX:153128098..153363142 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153154008-153624566)x2 copy number gain not provided [RCV000846110] ChrX:153154008..153624566 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_152990712)_(153650075_?)del deletion Emery-Dreifuss muscular dystrophy 1, X-linked [RCV000823256] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_153137587)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000794134] ChrX:153137587..153363142 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_152954020)_(154096327_?)del deletion Adrenoleukodystrophy [RCV000815921] ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq28(chrX:153255132-153636707)x3 copy number gain not provided [RCV000847428] ChrX:153255132..153636707 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xq28(chrX:153105400-153438105)x2 copy number gain not provided [RCV000846316] ChrX:153105400..153438105 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
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 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_001569.4(IRAK1):c.1799G>A (p.Arg600His) single nucleotide variant not provided [RCV000923548] ChrX:154013174 [GRCh38]
ChrX:153278625 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:153023149-153345755)x2 copy number gain not provided [RCV001007367] ChrX:153023149..153345755 [GRCh37]
ChrX:Xq28
likely pathogenic
NC_000023.10:g.(?_152954010)_(153363142_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV001033929] ChrX:152954010..153363142 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153029046-153567369)x3 copy number gain not provided [RCV001007368] ChrX:153029046..153567369 [GRCh37]
ChrX:Xq28
pathogenic
NC_000023.10:g.(?_152990712)_(153650075_?)dup duplication Emery-Dreifuss muscular dystrophy 1, X-linked [RCV001031812] ChrX:152990712..153650075 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq28(chrX:152516781-153368573)x2 copy number gain not provided [RCV001007365] ChrX:152516781..153368573 [GRCh37]
ChrX:Xq28
pathogenic
NM_001569.4(IRAK1):c.1303-2A>G single nucleotide variant not provided [RCV001260500] ChrX:154014280 [GRCh38]
ChrX:153279731 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq28(chrX:153113943-153624215)x2 copy number gain not provided [RCV001260058] ChrX:153113943..153624215 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153135257-153594096)x3 copy number gain not provided [RCV001260059] ChrX:153135257..153594096 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6112 AgrOrtholog
COSMIC IRAK1 COSMIC
Ensembl Genes ENSG00000184216 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000358990 UniProtKB/TrEMBL
  ENSP00000358991 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000358997 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377291 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000392662 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000399974 UniProtKB/TrEMBL
  ENSP00000403730 UniProtKB/TrEMBL
  ENSP00000406249 UniProtKB/TrEMBL
  ENSP00000410953 UniProtKB/TrEMBL
  ENSP00000411809 UniProtKB/TrEMBL
Ensembl Transcript ENST00000369973 UniProtKB/TrEMBL
  ENST00000369974 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000369980 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000393687 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000429936 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000437278 UniProtKB/TrEMBL
  ENST00000443220 UniProtKB/TrEMBL
  ENST00000444230 UniProtKB/TrEMBL
  ENST00000444254 UniProtKB/TrEMBL
  ENST00000455690 UniProtKB/TrEMBL
GTEx ENSG00000184216 GTEx
HGNC ID HGNC:6112 ENTREZGENE
Human Proteome Map IRAK1 Human Proteome Map
InterPro DEATH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Death_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Death_IRAK1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IRAK1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3654 UniProtKB/Swiss-Prot
NCBI Gene 3654 ENTREZGENE
OMIM 300283 OMIM
PANTHER PTHR24419:SF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Death UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_Tyr UniProtKB/TrEMBL
PharmGKB PA29912 PharmGKB
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47986 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D3YTB5 ENTREZGENE, UniProtKB/TrEMBL
  F8WAB6_HUMAN UniProtKB/TrEMBL
  H7C1F0_HUMAN UniProtKB/TrEMBL
  H7C224_HUMAN UniProtKB/TrEMBL
  H7C2I6_HUMAN UniProtKB/TrEMBL
  H7C3C1_HUMAN UniProtKB/TrEMBL
  H7C3G8_HUMAN UniProtKB/TrEMBL
  IRAK1_HUMAN UniProtKB/Swiss-Prot
  L8E7M9_HUMAN UniProtKB/TrEMBL
  P51617 ENTREZGENE
UniProt Secondary D3DWW3 UniProtKB/Swiss-Prot
  D3DWW4 UniProtKB/Swiss-Prot
  Q7Z5V4 UniProtKB/Swiss-Prot
  Q96C06 UniProtKB/Swiss-Prot
  Q96RL2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 IRAK1  interleukin 1 receptor associated kinase 1    interleukin-1 receptor-associated kinase 1  Symbol and/or name change 5135510 APPROVED
2011-08-16 IRAK1  interleukin-1 receptor-associated kinase 1  IRAK1  interleukin-1 receptor-associated kinase 1  Symbol and/or name change 5135510 APPROVED