IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma) - Rat Genome Database

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Gene: IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma) Homo sapiens
Analyze
Symbol: IKBKG
Name: inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
RGD ID: 1347094
HGNC Page HGNC
Description: Exhibits several functions, including linear polyubiquitin binding activity; protein dimerization activity; and transferrin receptor binding activity. Involved in several processes, including establishment of vesicle localization; positive regulation of I-kappaB kinase/NF-kappaB signaling; and regulation of transcription, DNA-templated. Localizes to several cellular components, including IkappaB kinase complex; spindle; and ubiquitin ligase complex. Implicated in Behcet's disease; Bloch-Sulzberger syndrome; hypohidrotic ectodermal dysplasia; immunodeficiency 33; and learning disability.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AMCBX1; EDAID1; FIP-3; FIP3; Fip3p; I-kappa-B kinase subunit gamma; IkB kinase gamma subunit; ikB kinase subunit gamma; ikB kinase-associated protein 1; IKK-gamma; IKKAP1; IKKG; IMD33; incontinentia pigmenti; incontinentia pigmenti 1 (sporadic, associated with X chromosome rearrangements); incontinentia pigmenti 2 (familial, male-lethal type); inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma; inhibitor of nuclear factor kappa B kinase subunit gamma; inhibitor of nuclear factor kappa-B kinase subunit gamma; IP; IP1; IP2; IPD2; NEMO; NF-kappa-B essential modifier; NF-kappa-B essential modulator; NFkappaB essential modulator; ZC2HC9
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: IKBKGP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX154,541,199 - 154,565,046 (+)EnsemblGRCh38hg38GRCh38
GRCh38X154,541,238 - 154,565,046 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,769,453 - 153,793,261 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,423,653 - 153,446,455 (+)NCBINCBI36hg18NCBI36
Build 34X153,339,765 - 153,356,964NCBI
CeleraX153,931,508 - 153,953,200 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,346,885 - 142,356,952 (+)NCBIHuRef
CHM1_1X153,682,224 - 153,705,030 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
1-benzofuran  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
5-aza-2'-deoxycytidine  (ISO)
acrolein  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucosamine  (ISO)
alpha-pinene  (EXP)
antirheumatic drug  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-D-glucosamine  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
cadmium dichloride  (EXP)
cadmium sulfate  (ISO)
capsiate  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
carmustine  (EXP)
carnosic acid  (EXP)
chloroprene  (ISO)
chloroquine  (EXP)
chlorpromazine  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
curcumin  (EXP)
Decursin  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (EXP)
diethyl maleate  (ISO)
dioxygen  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
ethanol  (ISO)
flutamide  (ISO)
furan  (ISO)
hydrazine  (ISO)
hydrogen peroxide  (EXP)
hypochlorous acid  (ISO)
lipopolysaccharide  (EXP)
methotrexate  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-methylformamide  (ISO)
N-nitrosodiethylamine  (ISO)
N-tosyl-L-phenylalanyl chloromethyl ketone  (EXP)
naphthalene-1,5-diamine  (ISO)
niclosamide  (EXP)
o-anisidine  (EXP)
orphenadrine  (ISO)
ozone  (EXP)
p-menthan-3-ol  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
pentachlorophenol  (ISO)
phenobarbital  (ISO)
phorbol 13-acetate 12-myristate  (EXP,ISO)
potassium chromate  (EXP)
progesterone  (ISO)
resveratrol  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
succimer  (ISO)
sulforaphane  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
tunicamycin  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activation of MAPK activity  (TAS)
activation of NF-kappaB-inducing kinase activity  (ISO)
anoikis  (ISS)
antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent  (TAS)
apoptotic process  (TAS)
B cell homeostasis  (ISO)
cellular response to DNA damage stimulus  (IDA,IMP)
establishment of vesicle localization  (IMP)
Fc-epsilon receptor signaling pathway  (TAS)
I-kappaB kinase/NF-kappaB signaling  (TAS)
immune response  (TAS)
inflammatory response  (TAS)
innate immune response  (TAS)
interleukin-1-mediated signaling pathway  (TAS)
JNK cascade  (TAS)
MyD88-independent toll-like receptor signaling pathway  (TAS)
negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  (ISO)
negative regulation of neuron death  (TAS)
nucleotide-binding oligomerization domain containing signaling pathway  (TAS)
positive regulation of gene expression  (ISO)
positive regulation of I-kappaB kinase/NF-kappaB signaling  (IBA,IDA,TAS)
positive regulation of macroautophagy  (ISS)
positive regulation of NF-kappaB transcription factor activity  (IDA,TAS)
positive regulation of transcription by RNA polymerase II  (IDA)
protein deubiquitination  (TAS)
protein-containing complex assembly  (IDA)
regulation of I-kappaB kinase/NF-kappaB signaling  (IBA)
regulation of tumor necrosis factor-mediated signaling pathway  (TAS)
response to virus  (TAS)
stimulatory C-type lectin receptor signaling pathway  (TAS)
stress-activated MAPK cascade  (TAS)
T cell receptor signaling pathway  (NAS,TAS)
TRIF-dependent toll-like receptor signaling pathway  (TAS)
viral process  (IEA)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal blistering of the skin  (IAGP)
Abnormal chorioretinal morphology  (IAGP)
Abnormal circulating IgG level  (IAGP)
Abnormal hand morphology  (IAGP)
Abnormality of dental enamel  (IAGP)
Abnormality of dental morphology  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Absent hand  (IAGP)
Alopecia  (IAGP)
Aplasia of the eccrine sweat glands  (IAGP)
Asymmetric growth  (IAGP)
Atrophic, patchy alopecia  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Blue sclerae  (IAGP)
Breast aplasia  (IAGP)
Breast hypoplasia  (IAGP)
Broad nail  (IAGP)
Camptodactyly of finger  (IAGP)
Cataract  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral ischemia  (IAGP)
Coarse hair  (IAGP)
Cognitive impairment  (IAGP)
Congestive heart failure  (IAGP)
Conical incisor  (IAGP)
Conical tooth  (IAGP)
Corneal opacity  (IAGP)
Decreased circulating total IgM  (IAGP)
Delayed eruption of teeth  (IAGP)
Deviation of finger  (IAGP)
Disseminated nontuberculous mycobacterial infection  (IAGP)
Dysgammaglobulinemia  (IAGP)
Dystrophic toenail  (IAGP)
Ectodermal dysplasia  (IAGP)
Encephalitis  (IAGP)
Eosinophilia  (IAGP)
Erythema  (IAGP)
Fine hair  (IAGP)
Finger syndactyly  (IAGP)
Frontal bossing  (IAGP)
Gait disturbance  (IAGP)
Global developmental delay  (IAGP)
Hearing abnormality  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Hemivertebrae  (IAGP)
Hyperhidrosis  (IAGP)
Hyperkeratosis  (IAGP)
Hypodontia  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the fovea  (IAGP)
Hypoplastic fingernail  (IAGP)
Hypoplastic nipples  (IAGP)
Hypotonia  (IAGP)
Immunodeficiency  (IAGP)
Increased circulating IgA level  (IAGP)
Increased circulating IgM level  (IAGP)
Intellectual disability  (IAGP)
Irregular hyperpigmentation  (IAGP)
Keratitis  (IAGP)
Kyphoscoliosis  (IAGP)
Lymphedema  (IAGP)
Microcephaly  (IAGP)
Microphthalmia  (IAGP)
Molluscum contagiosum  (IAGP)
Nail dysplasia  (IAGP)
Nail dystrophy  (IAGP)
Nail pits  (IAGP)
Onychogryposis  (IAGP)
Optic atrophy  (IAGP)
Oral cleft  (IAGP)
Osteolysis  (IAGP)
Pallor  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Recurrent bacterial infections  (IAGP)
Reduced natural killer cell activity  (IAGP)
Retinal detachment  (IAGP)
Retinal hemorrhage  (IAGP)
Retinal vascular proliferation  (IAGP)
Ridged fingernail  (IAGP)
Ridged nail  (IAGP)
Scarring  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Severe cytomegalovirus infection  (IAGP)
Short stature  (IAGP)
Skin rash  (IAGP)
Skin ulcer  (IAGP)
Sparse hair  (IAGP)
Spasticity  (IAGP)
Spina bifida occulta  (IAGP)
Strabismus  (IAGP)
Supernumerary nipple  (IAGP)
Supernumerary ribs  (IAGP)
Telangiectasia of the skin  (IAGP)
Umbilical hernia  (IAGP)
Uveitis  (IAGP)
Verrucae  (IAGP)
Visual impairment  (IAGP)
X-linked dominant inheritance  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:9744859   PMID:9751060   PMID:9891086   PMID:9927690   PMID:10087442   PMID:10364167   PMID:10723127   PMID:10733566   PMID:10755617   PMID:10880512   PMID:10944468   PMID:10962024  
PMID:10962033   PMID:10968790   PMID:10980203   PMID:11002417   PMID:11047757   PMID:11057907   PMID:11064457   PMID:11080499   PMID:11113112   PMID:11224521   PMID:11242109   PMID:11256614  
PMID:11262391   PMID:11389905   PMID:11410370   PMID:11418127   PMID:11485410   PMID:11495908   PMID:11551959   PMID:11590134   PMID:11673821   PMID:11709543   PMID:11830587   PMID:11864612  
PMID:11877453   PMID:11971901   PMID:11971985   PMID:12045264   PMID:12133833   PMID:12138192   PMID:12192055   PMID:12244103   PMID:12435599   PMID:12459277   PMID:12477932   PMID:12486103  
PMID:12530972   PMID:12612076   PMID:12657630   PMID:12808104   PMID:12867425   PMID:12917689   PMID:12917690   PMID:12917691   PMID:12943667   PMID:14585847   PMID:14585990   PMID:14597638  
PMID:14651848   PMID:14653779   PMID:14684825   PMID:14695475   PMID:14726382   PMID:14743216   PMID:14754897   PMID:14764716   PMID:15043934   PMID:15100680   PMID:15125833   PMID:15184390  
PMID:15218148   PMID:15229184   PMID:15231748   PMID:15276183   PMID:15327770   PMID:15341735   PMID:15356572   PMID:15371500   PMID:15456791   PMID:15474016   PMID:15489334   PMID:15578091  
PMID:15601829   PMID:15601896   PMID:15620648   PMID:15653678   PMID:15670770   PMID:15749833   PMID:15802604   PMID:15870263   PMID:16051665   PMID:16126728   PMID:16129692   PMID:16148947  
PMID:16227629   PMID:16267042   PMID:16301747   PMID:16311516   PMID:16319058   PMID:16360037   PMID:16379012   PMID:16497931   PMID:16543241   PMID:16547522   PMID:16583354   PMID:16603398  
PMID:16611882   PMID:16627981   PMID:16684768   PMID:16697380   PMID:16737960   PMID:16794254   PMID:16831874   PMID:16874300   PMID:16906147   PMID:16938294   PMID:17000764   PMID:17030804  
PMID:17043643   PMID:17047224   PMID:17135271   PMID:17145747   PMID:17244613   PMID:17314097   PMID:17314283   PMID:17363905   PMID:17363973   PMID:17401323   PMID:17401626   PMID:17468758  
PMID:17568778   PMID:17626013   PMID:17693255   PMID:17702576   PMID:17728323   PMID:17766391   PMID:17891179   PMID:17910706   PMID:17932497   PMID:17939994   PMID:17948050   PMID:17977820  
PMID:17997719   PMID:18029035   PMID:18029348   PMID:18037881   PMID:18079694   PMID:18180283   PMID:18187620   PMID:18201555   PMID:18207244   PMID:18212736   PMID:18221368   PMID:18266324  
PMID:18266467   PMID:18287044   PMID:18313693   PMID:18347055   PMID:18350553   PMID:18429822   PMID:18450452   PMID:18462684   PMID:18511905   PMID:18519641   PMID:18583959   PMID:18617513  
PMID:18625728   PMID:18626576   PMID:18685082   PMID:18841575   PMID:18851874   PMID:18931663   PMID:18949366   PMID:18952891   PMID:18957422   PMID:19033441   PMID:19064727   PMID:19149237  
PMID:19185524   PMID:19285159   PMID:19303852   PMID:19305025   PMID:19327867   PMID:19365808   PMID:19373245   PMID:19373254   PMID:19404319   PMID:19422324   PMID:19453261   PMID:19494296  
PMID:19531477   PMID:19603533   PMID:19609363   PMID:19656162   PMID:19656241   PMID:19666608   PMID:19675569   PMID:19687056   PMID:19706536   PMID:19763089   PMID:19815509   PMID:19820708  
PMID:19854204   PMID:19875381   PMID:19880420   PMID:19897484   PMID:19948975   PMID:19956647   PMID:19959994   PMID:20005846   PMID:20010814   PMID:20026645   PMID:20098747   PMID:20161788  
PMID:20164171   PMID:20167598   PMID:20211142   PMID:20301198   PMID:20301552   PMID:20301645   PMID:20353939   PMID:20368414   PMID:20380930   PMID:20434027   PMID:20434986   PMID:20484576  
PMID:20499091   PMID:20529958   PMID:20542322   PMID:20586999   PMID:20724660   PMID:20837477   PMID:20890435   PMID:20923877   PMID:20932475   PMID:20932476   PMID:20970423   PMID:21057728  
PMID:21109981   PMID:21113135   PMID:21153314   PMID:21184742   PMID:21212807   PMID:21217772   PMID:21220427   PMID:21286028   PMID:21309033   PMID:21383699   PMID:21423167   PMID:21455180  
PMID:21458669   PMID:21474709   PMID:21486954   PMID:21512573   PMID:21518757   PMID:21538482   PMID:21606198   PMID:21622571   PMID:21622647   PMID:21703539   PMID:21704885   PMID:21709223  
PMID:21722947   PMID:21777808   PMID:21790911   PMID:21803029   PMID:21811235   PMID:21862579   PMID:21862596   PMID:21873635   PMID:21896478   PMID:21903422   PMID:21988832   PMID:22054014  
PMID:22081069   PMID:22099304   PMID:22121116   PMID:22176836   PMID:22300264   PMID:22341466   PMID:22513115   PMID:22517901   PMID:22525270   PMID:22547678   PMID:22605335   PMID:22607974  
PMID:22848449   PMID:22863883   PMID:22901541   PMID:22939629   PMID:22990857   PMID:23000966   PMID:23007157   PMID:23016877   PMID:23028469   PMID:23032186   PMID:23032187   PMID:23091055  
PMID:23104095   PMID:23123196   PMID:23131831   PMID:23144700   PMID:23453807   PMID:23453969   PMID:23483900   PMID:23506214   PMID:23524849   PMID:23575687   PMID:23690623   PMID:23732909  
PMID:23746843   PMID:23776175   PMID:23802866   PMID:23807287   PMID:23950712   PMID:23986494   PMID:24012789   PMID:24030825   PMID:24073555   PMID:24100029   PMID:24109239   PMID:24189400  
PMID:24240172   PMID:24266532   PMID:24270048   PMID:24270572   PMID:24339369   PMID:24379373   PMID:24457965   PMID:24469399   PMID:24487970   PMID:24488098   PMID:24552808   PMID:24561039  
PMID:24586659   PMID:24618592   PMID:24658140   PMID:24672029   PMID:24682681   PMID:24721901   PMID:24735611   PMID:24832601   PMID:25036637   PMID:25152375   PMID:25241761   PMID:25286246  
PMID:25296760   PMID:25304104   PMID:25400026   PMID:25402006   PMID:25409927   PMID:25441681   PMID:25544563   PMID:25548215   PMID:25734227   PMID:25735744   PMID:25736757   PMID:25736758  
PMID:25748427   PMID:25852190   PMID:25861989   PMID:25866210   PMID:25886387   PMID:25944529   PMID:25979343   PMID:25996949   PMID:26060140   PMID:26060253   PMID:26117626   PMID:26186194  
PMID:26240016   PMID:26258637   PMID:26334375   PMID:26496610   PMID:26500060   PMID:26564087   PMID:26577923   PMID:26611359   PMID:26670046   PMID:26740240   PMID:26802121   PMID:26865630  
PMID:26972000   PMID:27025967   PMID:27028374   PMID:27037530   PMID:27070702   PMID:27107014   PMID:27307491   PMID:27367027   PMID:27387502   PMID:27426725   PMID:27454822   PMID:27477329  
PMID:27552911   PMID:27560715   PMID:27609421   PMID:27669734   PMID:27695001   PMID:27777308   PMID:27810922   PMID:27893701   PMID:27929056   PMID:28035815   PMID:28189684   PMID:28190767  
PMID:28202068   PMID:28214532   PMID:28249776   PMID:28319114   PMID:28378594   PMID:28392573   PMID:28402272   PMID:28490597   PMID:28502111   PMID:28514442   PMID:28515148   PMID:28515292  
PMID:28607106   PMID:28679735   PMID:28702714   PMID:28939760   PMID:28974699   PMID:29097655   PMID:29111346   PMID:29125880   PMID:29255244   PMID:29474632   PMID:29534156   PMID:29634390  
PMID:29650758   PMID:29796997   PMID:29803706   PMID:30254148   PMID:30396951   PMID:30404796   PMID:30420664   PMID:30422821   PMID:30500824   PMID:30561431   PMID:30723530   PMID:30833792  
PMID:30862715   PMID:30886048   PMID:30913450   PMID:30943066   PMID:31070748   PMID:31091453   PMID:31119873   PMID:31145594   PMID:31289372   PMID:31366726   PMID:31502302   PMID:31585000  
PMID:31586073   PMID:31932854   PMID:31980649   PMID:32019898   PMID:32024692   PMID:32024699   PMID:32060423   PMID:32296183  


Genomics

Comparative Map Data
IKBKG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX154,541,199 - 154,565,046 (+)EnsemblGRCh38hg38GRCh38
GRCh38X154,541,238 - 154,565,046 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,769,453 - 153,793,261 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,423,653 - 153,446,455 (+)NCBINCBI36hg18NCBI36
Build 34X153,339,765 - 153,356,964NCBI
CeleraX153,931,508 - 153,953,200 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,346,885 - 142,356,952 (+)NCBIHuRef
CHM1_1X153,682,224 - 153,705,030 (+)NCBICHM1_1
Ikbkg
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X73,436,883 - 73,498,013 (+)NCBIGRCm39mm39
GRCm39 EnsemblX73,436,896 - 73,497,460 (+)Ensembl
GRCm38X74,393,233 - 74,456,792 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX74,393,290 - 74,453,854 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X71,638,630 - 71,699,117 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X70,682,424 - 70,704,240 (+)NCBImm8
CeleraX65,647,484 - 65,706,592 (+)NCBICelera
Cytogenetic MapXA7.3NCBI
Ikbkg
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X152,216,485 - 152,241,476 (+)NCBI
Rnor_6.0 EnsemblX156,257,173 - 156,270,748 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X156,254,187 - 156,280,046 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01151,994,689 - 152,019,874 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X160,386,558 - 160,420,190 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X160,483,372 - 160,496,394 (+)NCBI
Celera1135,659,513 - 135,672,876 (-)NCBICelera
Cytogenetic MapXq37NCBI
Ikbkg
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555801,053,823 - 1,069,802 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555801,053,823 - 1,069,802 (+)NCBIChiLan1.0ChiLan1.0
IKBKG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X153,869,352 - 153,876,677 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX153,854,493 - 153,876,092 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X143,988,720 - 144,010,078 (+)NCBIMhudiblu_PPA_v0panPan3
IKBKG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X122,232,052 - 122,253,499 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX122,235,878 - 122,250,562 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X125,373,537 - 125,395,176 (+)NCBI
UMICH_Zoey_3.1X121,142,500 - 121,164,137 (+)NCBI
UNSW_CanFamBas_1.0X123,657,571 - 123,679,200 (+)NCBI
UU_Cfam_GSD_1.0X123,419,351 - 123,440,993 (+)NCBI
Ikbkg
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X119,519,768 - 119,569,193 (+)NCBI
SpeTri2.0NW_0049368091,280,254 - 1,306,964 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IKBKG
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX125,036,508 - 125,056,453 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X125,035,575 - 125,056,445 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X143,478,840 - 143,498,934 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IKBKG
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X128,781,975 - 128,816,039 (+)NCBI
ChlSab1.1 EnsemblX128,787,785 - 128,806,083 (+)Ensembl
Ikbkg
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624946997,571 - 1,015,748 (+)NCBI

Position Markers
GDB:179459  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,778,375 - 153,778,649UniSTSGRCh37
Build 36X153,431,569 - 153,431,843RGDNCBI36
CeleraX153,939,424 - 153,939,698RGD
Cytogenetic MapXq28UniSTS
HuRefX142,354,885 - 142,355,159UniSTS
G65806  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,774,266 - 153,774,923UniSTSGRCh37
Build 36X153,427,460 - 153,428,117RGDNCBI36
CeleraX153,935,315 - 153,935,972RGD
Cytogenetic MapXq28UniSTS
HuRefX142,350,694 - 142,351,351UniSTS
G65807  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,776,225 - 153,777,182UniSTSGRCh37
Build 36X153,429,419 - 153,430,376RGDNCBI36
CeleraX153,937,274 - 153,938,231RGD
Cytogenetic MapXq28UniSTS
HuRefX142,352,733 - 142,353,690UniSTS
G65810  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,773,193 - 153,774,189UniSTSGRCh37
Build 36X153,426,387 - 153,427,383RGDNCBI36
CeleraX153,934,242 - 153,935,238RGD
Cytogenetic MapXq28UniSTS
HuRefX142,349,619 - 142,350,617UniSTS
ECD01380  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,868,482 - 153,869,349UniSTSGRCh37
GRCh37X153,791,578 - 153,792,445UniSTSGRCh37
Build 36X153,444,772 - 153,445,639RGDNCBI36
CeleraX153,951,517 - 153,952,384RGD
Cytogenetic MapXq28UniSTS
HuRefX142,413,105 - 142,413,972UniSTS
ECD03042  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,873,853 - 153,874,661UniSTSGRCh37
GRCh37X153,786,266 - 153,787,074UniSTSGRCh37
Build 36X153,439,460 - 153,440,268RGDNCBI36
CeleraX153,946,205 - 153,947,013RGD
Cytogenetic MapXq28UniSTS
HuRefX142,418,477 - 142,419,285UniSTS
ECD04249  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,877,250 - 153,878,020UniSTSGRCh37
Build 36X153,530,444 - 153,531,214RGDNCBI36
CeleraX154,035,331 - 154,036,101RGD
Cytogenetic MapXq28UniSTS
HuRefX142,421,873 - 142,422,643UniSTS
ECD04749  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,768,880 - 153,769,635UniSTSGRCh37
Build 36X153,422,074 - 153,422,829RGDNCBI36
CeleraX153,929,929 - 153,930,684RGD
Cytogenetic MapXq28UniSTS
HuRefX142,345,306 - 142,346,061UniSTS
ECD09144  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,870,590 - 153,871,226UniSTSGRCh37
GRCh37X153,789,701 - 153,790,337UniSTSGRCh37
Build 36X153,442,895 - 153,443,531RGDNCBI36
CeleraX153,949,640 - 153,950,276RGD
Cytogenetic MapXq28UniSTS
HuRefX142,415,214 - 142,415,850UniSTS
ECD09693  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,774,095 - 153,774,717UniSTSGRCh37
Build 36X153,427,289 - 153,427,911RGDNCBI36
CeleraX153,935,144 - 153,935,766RGD
Cytogenetic MapXq28UniSTS
HuRefX142,350,523 - 142,351,145UniSTS
ECD09981  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,779,863 - 153,780,477UniSTSGRCh37
Build 36X153,433,057 - 153,433,671RGDNCBI36
CeleraX153,940,912 - 153,941,526RGD
Cytogenetic MapXq28UniSTS
HuRefX142,356,373 - 142,356,987UniSTS
ECD10306  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,770,992 - 153,771,597UniSTSGRCh37
Build 36X153,424,186 - 153,424,791RGDNCBI36
CeleraX153,932,041 - 153,932,646RGD
Cytogenetic MapXq28UniSTS
HuRefX142,347,418 - 142,348,023UniSTS
ECD10822  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,775,804 - 153,776,394UniSTSGRCh37
Build 36X153,428,998 - 153,429,588RGDNCBI36
CeleraX153,936,853 - 153,937,443RGD
Cytogenetic MapXq28UniSTS
HuRefX142,352,312 - 142,352,902UniSTS
ECD11020  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,872,749 - 153,873,333UniSTSGRCh37
GRCh37X153,787,594 - 153,788,178UniSTSGRCh37
Build 36X153,440,788 - 153,441,372RGDNCBI36
CeleraX153,947,533 - 153,948,117RGD
Cytogenetic MapXq28UniSTS
HuRefX142,417,373 - 142,417,957UniSTS
ECD12483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,773,216 - 153,773,758UniSTSGRCh37
Build 36X153,426,410 - 153,426,952RGDNCBI36
CeleraX153,934,265 - 153,934,807RGD
Cytogenetic MapXq28UniSTS
HuRefX142,349,642 - 142,350,186UniSTS
ECD12484  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,876,275 - 153,876,817UniSTSGRCh37
GRCh37X153,784,110 - 153,784,652UniSTSGRCh37
Build 36X153,437,304 - 153,437,846RGDNCBI36
CeleraX154,034,356 - 154,034,898RGD
Cytogenetic MapXq28UniSTS
HuRefX142,420,898 - 142,421,440UniSTS
ECD12881  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,867,807 - 153,868,339UniSTSGRCh37
GRCh37X153,792,588 - 153,793,120UniSTSGRCh37
Build 36X153,445,782 - 153,446,314RGDNCBI36
CeleraX153,952,527 - 153,953,059RGD
Cytogenetic MapXq28UniSTS
HuRefX142,412,430 - 142,412,962UniSTS
ECD13704  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,876,275 - 153,876,786UniSTSGRCh37
GRCh37X153,784,141 - 153,784,652UniSTSGRCh37
Build 36X153,437,335 - 153,437,846RGDNCBI36
CeleraX154,034,356 - 154,034,867RGD
Cytogenetic MapXq28UniSTS
HuRefX142,420,898 - 142,421,409UniSTS
ECD15690  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,781,312 - 153,781,776UniSTSGRCh37
Build 36X153,434,506 - 153,434,970RGDNCBI36
CeleraX153,942,361 - 153,942,825RGD
Cytogenetic MapXq28UniSTS
HuRefX142,357,822 - 142,358,286UniSTS
ECD16402  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,769,966 - 153,770,408UniSTSGRCh37
Build 36X153,423,160 - 153,423,602RGDNCBI36
CeleraX153,931,015 - 153,931,457RGD
Cytogenetic MapXq28UniSTS
HuRefX142,346,392 - 142,346,834UniSTS
ECD16915  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,780,876 - 153,781,296UniSTSGRCh37
Build 36X153,434,070 - 153,434,490RGDNCBI36
CeleraX153,941,925 - 153,942,345RGD
Cytogenetic MapXq28UniSTS
HuRefX142,357,386 - 142,357,806UniSTS
ECD17262  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,775,287 - 153,775,693UniSTSGRCh37
Build 36X153,428,481 - 153,428,887RGDNCBI36
CeleraX153,936,336 - 153,936,742RGD
Cytogenetic MapXq28UniSTS
ECD17453  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,869,709 - 153,870,107UniSTSGRCh37
GRCh37X153,790,820 - 153,791,218UniSTSGRCh37
Build 36X153,444,014 - 153,444,412RGDNCBI36
CeleraX153,950,759 - 153,951,157RGD
Cytogenetic MapXq28UniSTS
HuRefX142,414,333 - 142,414,731UniSTS
ECD17544  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,782,038 - 153,782,432UniSTSGRCh37
Build 36X153,435,232 - 153,435,626RGDNCBI36
CeleraX153,943,087 - 153,943,481RGD
Cytogenetic MapXq28UniSTS
HuRefX142,358,548 - 142,358,942UniSTS
ECD19230  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,782,987 - 153,783,316UniSTSGRCh37
Build 36X153,436,181 - 153,436,510RGDNCBI36
CeleraX153,944,036 - 153,944,365RGD
Cytogenetic MapXq28UniSTS
ECD20333  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,770,543 - 153,770,831UniSTSGRCh37
Build 36X153,423,737 - 153,424,025RGDNCBI36
CeleraX153,931,592 - 153,931,880RGD
Cytogenetic MapXq28UniSTS
HuRefX142,346,969 - 142,347,257UniSTS
ECD20755  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,872,141 - 153,872,414UniSTSGRCh37
GRCh37X153,788,513 - 153,788,786UniSTSGRCh37
Build 36X153,441,707 - 153,441,980RGDNCBI36
CeleraX153,948,452 - 153,948,725RGD
Cytogenetic MapXq28UniSTS
HuRefX142,416,765 - 142,417,038UniSTS
ECD21671  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,772,855 - 153,773,098UniSTSGRCh37
Build 36X153,426,049 - 153,426,292RGDNCBI36
CeleraX153,933,904 - 153,934,147RGD
Cytogenetic MapXq28UniSTS
HuRefX142,349,281 - 142,349,524UniSTS
ECD21736  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,875,601 - 153,875,842UniSTSGRCh37
GRCh37X153,785,085 - 153,785,326UniSTSGRCh37
Build 36X153,438,279 - 153,438,520RGDNCBI36
CeleraX154,033,682 - 154,033,923RGD
Cytogenetic MapXq28UniSTS
HuRefX142,420,224 - 142,420,465UniSTS
ECD22162  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,871,843 - 153,872,070UniSTSGRCh37
GRCh37X153,788,857 - 153,789,084UniSTSGRCh37
Build 36X153,442,051 - 153,442,278RGDNCBI36
CeleraX153,948,796 - 153,949,023RGD
Cytogenetic MapXq28UniSTS
HuRefX142,416,467 - 142,416,694UniSTS
ECD22642  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,783,421 - 153,783,634UniSTSGRCh37
Build 36X153,436,615 - 153,436,828RGDNCBI36
CeleraX153,944,470 - 153,944,683RGD
Cytogenetic MapXq28UniSTS
ECD22814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,771,686 - 153,771,893UniSTSGRCh37
Build 36X153,424,880 - 153,425,087RGDNCBI36
CeleraX153,932,735 - 153,932,942RGD
Cytogenetic MapXq28UniSTS
HuRefX142,348,112 - 142,348,319UniSTS
ECD23372  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,769,697 - 153,769,888UniSTSGRCh37
Build 36X153,422,891 - 153,423,082RGDNCBI36
CeleraX153,930,746 - 153,930,937RGD
Cytogenetic MapXq28UniSTS
HuRefX142,346,123 - 142,346,314UniSTS
REN89971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,768,603 - 153,768,853UniSTSGRCh37
Build 36X153,421,797 - 153,422,047RGDNCBI36
CeleraX153,929,652 - 153,929,902RGD
Cytogenetic MapXq28UniSTS
HuRefX142,345,029 - 142,345,279UniSTS
REN89972  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,768,834 - 153,769,095UniSTSGRCh37
Build 36X153,422,028 - 153,422,289RGDNCBI36
CeleraX153,929,883 - 153,930,144RGD
Cytogenetic MapXq28UniSTS
HuRefX142,345,260 - 142,345,521UniSTS
REN89973  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,769,071 - 153,769,321UniSTSGRCh37
Build 36X153,422,265 - 153,422,515RGDNCBI36
CeleraX153,930,120 - 153,930,370RGD
Cytogenetic MapXq28UniSTS
HuRefX142,345,497 - 142,345,747UniSTS
REN89974  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,769,308 - 153,769,534UniSTSGRCh37
Build 36X153,422,502 - 153,422,728RGDNCBI36
CeleraX153,930,357 - 153,930,583RGD
Cytogenetic MapXq28UniSTS
HuRefX142,345,734 - 142,345,960UniSTS
REN89975  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,769,528 - 153,769,767UniSTSGRCh37
Build 36X153,422,722 - 153,422,961RGDNCBI36
CeleraX153,930,577 - 153,930,816RGD
Cytogenetic MapXq28UniSTS
HuRefX142,345,954 - 142,346,193UniSTS
REN89976  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,769,740 - 153,769,989UniSTSGRCh37
Build 36X153,422,934 - 153,423,183RGDNCBI36
CeleraX153,930,789 - 153,931,038RGD
Cytogenetic MapXq28UniSTS
HuRefX142,346,166 - 142,346,415UniSTS
REN89977  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,769,955 - 153,770,182UniSTSGRCh37
Build 36X153,423,149 - 153,423,376RGDNCBI36
CeleraX153,931,004 - 153,931,231RGD
Cytogenetic MapXq28UniSTS
HuRefX142,346,381 - 142,346,608UniSTS
REN89978  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,770,150 - 153,770,399UniSTSGRCh37
Build 36X153,423,344 - 153,423,593RGDNCBI36
CeleraX153,931,199 - 153,931,448RGD
Cytogenetic MapXq28UniSTS
HuRefX142,346,576 - 142,346,825UniSTS
REN89979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,770,383 - 153,770,640UniSTSGRCh37
Build 36X153,423,577 - 153,423,834RGDNCBI36
CeleraX153,931,432 - 153,931,689RGD
Cytogenetic MapXq28UniSTS
HuRefX142,346,809 - 142,347,066UniSTS
REN89980  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,770,605 - 153,770,838UniSTSGRCh37
Build 36X153,423,799 - 153,424,032RGDNCBI36
CeleraX153,931,654 - 153,931,887RGD
Cytogenetic MapXq28UniSTS
HuRefX142,347,031 - 142,347,264UniSTS
REN89981  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,770,805 - 153,771,063UniSTSGRCh37
Build 36X153,423,999 - 153,424,257RGDNCBI36
CeleraX153,931,854 - 153,932,112RGD
Cytogenetic MapXq28UniSTS
HuRefX142,347,231 - 142,347,489UniSTS
REN89982  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,771,030 - 153,771,259UniSTSGRCh37
Build 36X153,424,224 - 153,424,453RGDNCBI36
CeleraX153,932,079 - 153,932,308RGD
Cytogenetic MapXq28UniSTS
HuRefX142,347,456 - 142,347,685UniSTS
REN89983  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,771,222 - 153,771,484UniSTSGRCh37
Build 36X153,424,416 - 153,424,678RGDNCBI36
CeleraX153,932,271 - 153,932,533RGD
Cytogenetic MapXq28UniSTS
HuRefX142,347,648 - 142,347,910UniSTS
REN89984  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,771,461 - 153,771,710UniSTSGRCh37
Build 36X153,424,655 - 153,424,904RGDNCBI36
CeleraX153,932,510 - 153,932,759RGD
Cytogenetic MapXq28UniSTS
HuRefX142,347,887 - 142,348,136UniSTS
REN89985  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,771,678 - 153,771,907UniSTSGRCh37
Build 36X153,424,872 - 153,425,101RGDNCBI36
CeleraX153,932,727 - 153,932,956RGD
Cytogenetic MapXq28UniSTS
HuRefX142,348,104 - 142,348,333UniSTS
REN89986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,771,845 - 153,772,074UniSTSGRCh37
Build 36X153,425,039 - 153,425,268RGDNCBI36
CeleraX153,932,894 - 153,933,123RGD
Cytogenetic MapXq28UniSTS
HuRefX142,348,271 - 142,348,500UniSTS
REN89987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,772,807 - 153,773,047UniSTSGRCh37
Build 36X153,426,001 - 153,426,241RGDNCBI36
CeleraX153,933,856 - 153,934,096RGD
Cytogenetic MapXq28UniSTS
HuRefX142,349,233 - 142,349,473UniSTS
REN89988  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,773,039 - 153,773,280UniSTSGRCh37
Build 36X153,426,233 - 153,426,474RGDNCBI36
CeleraX153,934,088 - 153,934,329RGD
Cytogenetic MapXq28UniSTS
HuRefX142,349,465 - 142,349,706UniSTS
REN89989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,773,265 - 153,773,525UniSTSGRCh37
Build 36X153,426,459 - 153,426,719RGDNCBI36
CeleraX153,934,314 - 153,934,574RGD
Cytogenetic MapXq28UniSTS
HuRefX142,349,691 - 142,349,953UniSTS
REN89990  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,773,494 - 153,773,732UniSTSGRCh37
Build 36X153,426,688 - 153,426,926RGDNCBI36
CeleraX153,934,543 - 153,934,781RGD
Cytogenetic MapXq28UniSTS
HuRefX142,349,922 - 142,350,160UniSTS
REN89991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,773,536 - 153,773,760UniSTSGRCh37
Build 36X153,426,730 - 153,426,954RGDNCBI36
CeleraX153,934,585 - 153,934,809RGD
Cytogenetic MapXq28UniSTS
HuRefX142,349,964 - 142,350,188UniSTS
REN89992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,774,093 - 153,774,317UniSTSGRCh37
Build 36X153,427,287 - 153,427,511RGDNCBI36
CeleraX153,935,142 - 153,935,366RGD
Cytogenetic MapXq28UniSTS
HuRefX142,350,521 - 142,350,745UniSTS
REN89993  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,774,275 - 153,774,549UniSTSGRCh37
Build 36X153,427,469 - 153,427,743RGDNCBI36
CeleraX153,935,324 - 153,935,598RGD
Cytogenetic MapXq28UniSTS
HuRefX142,350,703 - 142,350,977UniSTS
REN89994  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,774,526 - 153,774,771UniSTSGRCh37
Build 36X153,427,720 - 153,427,965RGDNCBI36
CeleraX153,935,575 - 153,935,820RGD
Cytogenetic MapXq28UniSTS
HuRefX142,350,954 - 142,351,199UniSTS
REN89995  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,774,751 - 153,775,018UniSTSGRCh37
Build 36X153,427,945 - 153,428,212RGDNCBI36
CeleraX153,935,800 - 153,936,067RGD
Cytogenetic MapXq28UniSTS
HuRefX142,351,179 - 142,351,446UniSTS
REN89996  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,774,837 - 153,775,063UniSTSGRCh37
Build 36X153,428,031 - 153,428,257RGDNCBI36
CeleraX153,935,886 - 153,936,112RGD
Cytogenetic MapXq28UniSTS
HuRefX142,351,265 - 142,351,491UniSTS
REN89997  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,775,040 - 153,775,306UniSTSGRCh37
Build 36X153,428,234 - 153,428,500RGDNCBI36
CeleraX153,936,089 - 153,936,355RGD
Cytogenetic MapXq28UniSTS
REN89998  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,775,329 - 153,775,566UniSTSGRCh37
Build 36X153,428,523 - 153,428,760RGDNCBI36
CeleraX153,936,378 - 153,936,615RGD
Cytogenetic MapXq28UniSTS
REN89999  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,775,540 - 153,775,764UniSTSGRCh37
Build 36X153,428,734 - 153,428,958RGDNCBI36
CeleraX153,936,589 - 153,936,813RGD
Cytogenetic MapXq28UniSTS
HuRefX142,352,048 - 142,352,272UniSTS
REN90000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,775,746 - 153,775,990UniSTSGRCh37
Build 36X153,428,940 - 153,429,184RGDNCBI36
CeleraX153,936,795 - 153,937,039RGD
Cytogenetic MapXq28UniSTS
HuRefX142,352,254 - 142,352,498UniSTS
REN90001  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,775,947 - 153,776,208UniSTSGRCh37
Build 36X153,429,141 - 153,429,402RGDNCBI36
CeleraX153,936,996 - 153,937,257RGD
Cytogenetic MapXq28UniSTS
HuRefX142,352,455 - 142,352,716UniSTS
REN90002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,776,182 - 153,776,428UniSTSGRCh37
Build 36X153,429,376 - 153,429,622RGDNCBI36
CeleraX153,937,231 - 153,937,477RGD
Cytogenetic MapXq28UniSTS
HuRefX142,352,690 - 142,352,936UniSTS
REN90003  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,776,409 - 153,776,661UniSTSGRCh37
Build 36X153,429,603 - 153,429,855RGDNCBI36
CeleraX153,937,458 - 153,937,710RGD
Cytogenetic MapXq28UniSTS
HuRefX142,352,917 - 142,353,169UniSTS
REN90004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,776,638 - 153,776,876UniSTSGRCh37
Build 36X153,429,832 - 153,430,070RGDNCBI36
CeleraX153,937,687 - 153,937,925RGD
Cytogenetic MapXq28UniSTS
HuRefX142,353,146 - 142,353,384UniSTS
REN90005  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,776,848 - 153,777,117UniSTSGRCh37
Build 36X153,430,042 - 153,430,311RGDNCBI36
CeleraX153,937,897 - 153,938,166RGD
Cytogenetic MapXq28UniSTS
HuRefX142,353,356 - 142,353,625UniSTS
REN90006  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,776,969 - 153,777,193UniSTSGRCh37
Build 36X153,430,163 - 153,430,387RGDNCBI36
CeleraX153,938,018 - 153,938,242RGD
Cytogenetic MapXq28UniSTS
HuRefX142,353,477 - 142,353,701UniSTS
REN90007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,777,632 - 153,777,856UniSTSGRCh37
Build 36X153,430,826 - 153,431,050RGDNCBI36
CeleraX153,938,681 - 153,938,905RGD
Cytogenetic MapXq28UniSTS
HuRefX142,354,140 - 142,354,364UniSTS
REN90008  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,777,831 - 153,778,086UniSTSGRCh37
Build 36X153,431,025 - 153,431,280RGDNCBI36
CeleraX153,938,880 - 153,939,135RGD
Cytogenetic MapXq28UniSTS
HuRefX142,354,339 - 142,354,596UniSTS
REN90009  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,778,082 - 153,778,327UniSTSGRCh37
Build 36X153,431,276 - 153,431,521RGDNCBI36
CeleraX153,939,131 - 153,939,376RGD
Cytogenetic MapXq28UniSTS
HuRefX142,354,592 - 142,354,837UniSTS
REN90010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,778,309 - 153,778,578UniSTSGRCh37
Build 36X153,431,503 - 153,431,772RGDNCBI36
CeleraX153,939,358 - 153,939,627RGD
Cytogenetic MapXq28UniSTS
HuRefX142,354,819 - 142,355,088UniSTS
REN90011  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,778,555 - 153,778,786UniSTSGRCh37
Build 36X153,431,749 - 153,431,980RGDNCBI36
CeleraX153,939,604 - 153,939,835RGD
Cytogenetic MapXq28UniSTS
HuRefX142,355,065 - 142,355,296UniSTS
REN90012  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,778,653 - 153,778,880UniSTSGRCh37
Build 36X153,431,847 - 153,432,074RGDNCBI36
CeleraX153,939,702 - 153,939,929RGD
Cytogenetic MapXq28UniSTS
HuRefX142,355,163 - 142,355,390UniSTS
REN90013  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,778,799 - 153,779,025UniSTSGRCh37
Build 36X153,431,993 - 153,432,219RGDNCBI36
CeleraX153,939,848 - 153,940,074RGD
Cytogenetic MapXq28UniSTS
HuRefX142,355,309 - 142,355,535UniSTS
REN90014  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,779,457 - 153,779,681UniSTSGRCh37
Build 36X153,432,651 - 153,432,875RGDNCBI36
CeleraX153,940,506 - 153,940,730RGD
Cytogenetic MapXq28UniSTS
HuRefX142,355,967 - 142,356,191UniSTS
REN90015  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,779,662 - 153,779,904UniSTSGRCh37
Build 36X153,432,856 - 153,433,098RGDNCBI36
CeleraX153,940,711 - 153,940,953RGD
Cytogenetic MapXq28UniSTS
HuRefX142,356,172 - 142,356,414UniSTS
REN90016  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,779,898 - 153,780,141UniSTSGRCh37
Build 36X153,433,092 - 153,433,335RGDNCBI36
CeleraX153,940,947 - 153,941,190RGD
Cytogenetic MapXq28UniSTS
HuRefX142,356,408 - 142,356,651UniSTS
REN90017  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,780,118 - 153,780,352UniSTSGRCh37
Build 36X153,433,312 - 153,433,546RGDNCBI36
CeleraX153,941,167 - 153,941,401RGD
Cytogenetic MapXq28UniSTS
HuRefX142,356,628 - 142,356,862UniSTS
REN90018  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,780,332 - 153,780,582UniSTSGRCh37
Build 36X153,433,526 - 153,433,776RGDNCBI36
CeleraX153,941,381 - 153,941,631RGD
Cytogenetic MapXq28UniSTS
HuRefX142,356,842 - 142,357,092UniSTS
REN90019  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,780,398 - 153,780,643UniSTSGRCh37
Build 36X153,433,592 - 153,433,837RGDNCBI36
CeleraX153,941,447 - 153,941,692RGD
Cytogenetic MapXq28UniSTS
HuRefX142,356,908 - 142,357,153UniSTS
REN90020  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,236,640 - 154,236,906UniSTSGRCh37
GRCh37X153,780,965 - 153,781,231UniSTSGRCh37
Build 36X153,434,159 - 153,434,425RGDNCBI36
CeleraX153,942,014 - 153,942,280RGD
CeleraX154,395,374 - 154,395,640UniSTS
Cytogenetic MapXq28UniSTS
HuRefX142,357,475 - 142,357,741UniSTS
HuRefX142,781,637 - 142,781,903UniSTS
REN90021  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,781,206 - 153,781,449UniSTSGRCh37
Build 36X153,434,400 - 153,434,643RGDNCBI36
CeleraX153,942,255 - 153,942,498RGD
Cytogenetic MapXq28UniSTS
HuRefX142,357,716 - 142,357,959UniSTS
REN90022  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,781,429 - 153,781,685UniSTSGRCh37
Build 36X153,434,623 - 153,434,879RGDNCBI36
CeleraX153,942,478 - 153,942,734RGD
Cytogenetic MapXq28UniSTS
HuRefX142,357,939 - 142,358,195UniSTS
REN90023  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,781,668 - 153,781,929UniSTSGRCh37
Build 36X153,434,862 - 153,435,123RGDNCBI36
CeleraX153,942,717 - 153,942,978RGD
Cytogenetic MapXq28UniSTS
HuRefX142,358,178 - 142,358,439UniSTS
REN90024  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,781,915 - 153,782,141UniSTSGRCh37
Build 36X153,435,109 - 153,435,335RGDNCBI36
CeleraX153,942,964 - 153,943,190RGD
Cytogenetic MapXq28UniSTS
HuRefX142,358,425 - 142,358,651UniSTS
REN90025  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,782,111 - 153,782,360UniSTSGRCh37
Build 36X153,435,305 - 153,435,554RGDNCBI36
CeleraX153,943,160 - 153,943,409RGD
Cytogenetic MapXq28UniSTS
HuRefX142,358,621 - 142,358,870UniSTS
REN90026  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,782,338 - 153,782,584UniSTSGRCh37
Build 36X153,435,532 - 153,435,778RGDNCBI36
CeleraX153,943,387 - 153,943,633RGD
Cytogenetic MapXq28UniSTS
HuRefX142,358,848 - 142,359,094UniSTS
REN90027  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,782,437 - 153,782,697UniSTSGRCh37
Build 36X153,435,631 - 153,435,891RGDNCBI36
CeleraX153,943,486 - 153,943,746RGD
Cytogenetic MapXq28UniSTS
HuRefX142,358,947 - 142,359,207UniSTS
REN90028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,782,588 - 153,782,838UniSTSGRCh37
Build 36X153,435,782 - 153,436,032RGDNCBI36
CeleraX153,943,637 - 153,943,887RGD
Cytogenetic MapXq28UniSTS
HuRefX142,359,098 - 142,359,348UniSTS
REN90029  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,782,978 - 153,783,204UniSTSGRCh37
Build 36X153,436,172 - 153,436,398RGDNCBI36
CeleraX153,944,027 - 153,944,253RGD
Cytogenetic MapXq28UniSTS
HuRefX142,359,488 - 142,359,714UniSTS
REN90030  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,783,181 - 153,783,413UniSTSGRCh37
Build 36X153,436,375 - 153,436,607RGDNCBI36
CeleraX153,944,230 - 153,944,462RGD
Cytogenetic MapXq28UniSTS
REN90031  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,783,367 - 153,783,635UniSTSGRCh37
Build 36X153,436,561 - 153,436,829RGDNCBI36
CeleraX153,944,416 - 153,944,684RGD
Cytogenetic MapXq28UniSTS
REN90032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,783,489 - 153,783,724UniSTSGRCh37
Build 36X153,436,683 - 153,436,918RGDNCBI36
CeleraX153,944,538 - 153,944,773RGD
Cytogenetic MapXq28UniSTS
REN90127  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,877,414 - 153,877,644UniSTSGRCh37
Build 36X153,530,608 - 153,530,838RGDNCBI36
CeleraX154,035,495 - 154,035,725RGD
Cytogenetic MapXq28UniSTS
HuRefX142,422,037 - 142,422,267UniSTS
REN90128  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,877,605 - 153,877,873UniSTSGRCh37
Build 36X153,530,799 - 153,531,067RGDNCBI36
CeleraX154,035,686 - 154,035,954RGD
Cytogenetic MapXq28UniSTS
HuRefX142,422,228 - 142,422,496UniSTS
REN90129  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,877,849 - 153,878,089UniSTSGRCh37
Build 36X153,531,043 - 153,531,283RGDNCBI36
CeleraX154,035,930 - 154,036,170RGD
Cytogenetic MapXq28UniSTS
HuRefX142,422,472 - 142,422,712UniSTS
REN90130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,878,064 - 153,878,297UniSTSGRCh37
Build 36X153,531,258 - 153,531,491RGDNCBI36
CeleraX154,036,145 - 154,036,378RGD
Cytogenetic MapXq28UniSTS
HuRefX142,422,687 - 142,422,920UniSTS
REN90131  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,878,282 - 153,878,547UniSTSGRCh37
Build 36X153,531,476 - 153,531,741RGDNCBI36
CeleraX154,036,363 - 154,036,628RGD
Cytogenetic MapXq28UniSTS
HuRefX142,422,905 - 142,423,170UniSTS
stSG604127  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,769,018 - 153,770,162UniSTSGRCh37
Build 36X153,422,212 - 153,423,356RGDNCBI36
CeleraX153,930,067 - 153,931,211RGD
HuRefX142,345,444 - 142,346,588UniSTS
stSG604128  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,770,143 - 153,771,391UniSTSGRCh37
Build 36X153,423,337 - 153,424,585RGDNCBI36
CeleraX153,931,192 - 153,932,440RGD
HuRefX142,346,569 - 142,347,817UniSTS
stSG604129  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,771,389 - 153,771,570UniSTSGRCh37
Build 36X153,424,583 - 153,424,764RGDNCBI36
CeleraX153,932,438 - 153,932,619RGD
HuRefX142,347,815 - 142,347,996UniSTS
stSG604130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,771,578 - 153,772,874UniSTSGRCh37
Build 36X153,424,772 - 153,426,068RGDNCBI36
CeleraX153,932,627 - 153,933,923RGD
HuRefX142,348,004 - 142,349,300UniSTS
stSG604131  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,772,877 - 153,774,260UniSTSGRCh37
Build 36X153,426,071 - 153,427,454RGDNCBI36
CeleraX153,933,926 - 153,935,309RGD
HuRefX142,349,303 - 142,350,688UniSTS
stSG604135  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,779,893 - 153,780,144UniSTSGRCh37
Build 36X153,433,087 - 153,433,338RGDNCBI36
CeleraX153,940,942 - 153,941,193RGD
HuRefX142,356,403 - 142,356,654UniSTS
stSG604136  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,780,157 - 153,781,296UniSTSGRCh37
Build 36X153,433,351 - 153,434,490RGDNCBI36
CeleraX153,941,206 - 153,942,345RGD
HuRefX142,356,667 - 142,357,806UniSTS
stSG604137  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,781,277 - 153,782,378UniSTSGRCh37
Build 36X153,434,471 - 153,435,572RGDNCBI36
CeleraX153,942,326 - 153,943,427RGD
HuRefX142,357,787 - 142,358,888UniSTS
stSG604138  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,782,378 - 153,783,528UniSTSGRCh37
Build 36X153,435,572 - 153,436,722RGDNCBI36
CeleraX153,943,427 - 153,944,577RGD
stSG604139  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,783,510 - 153,784,652UniSTSGRCh37
Build 36X153,436,704 - 153,437,846RGDNCBI36
A006S22  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,867,669 - 153,867,768UniSTSGRCh37
GRCh37X153,793,159 - 153,793,258UniSTSGRCh37
Build 36X153,446,353 - 153,446,452RGDNCBI36
CeleraX153,953,098 - 153,953,197RGD
Cytogenetic MapXq28UniSTS
HuRefX142,412,292 - 142,412,391UniSTS
GeneMap99-GB4 RH MapX352.15UniSTS
IKBKG_3230  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,867,628 - 153,868,289UniSTSGRCh37
GRCh37X153,792,638 - 153,793,299UniSTSGRCh37
Build 36X153,445,832 - 153,446,493RGDNCBI36
CeleraX153,952,577 - 153,953,238RGD
HuRefX142,412,251 - 142,412,912UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:12479
Count of miRNA genes:1473
Interacting mature miRNAs:2021
Transcripts:ENST00000263518, ENST00000369601, ENST00000369602, ENST00000369606, ENST00000369607, ENST00000369609, ENST00000393549, ENST00000413620, ENST00000422680, ENST00000424839, ENST00000440286, ENST00000445622, ENST00000455588, ENST00000470142, ENST00000479063, ENST00000490409, ENST00000492469
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 87 186 50 34 341 38 81 52 78 45 88 221 8 4 3
Low 2264 2745 1433 398 1433 236 4237 2089 3473 137 1172 1242 162 1204 2784 1
Below cutoff 53 1 1 1 1 52 114

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001099856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001099857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC244090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF074382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF091453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF261086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF277315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ271718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY114157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY429546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY429547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY429548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM473416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA916723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC410130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000413620   ⟹   ENSP00000398579
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,547,359 - 154,560,511 (+)Ensembl
RefSeq Acc Id: ENST00000422680   ⟹   ENSP00000390368
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,541,255 - 154,558,650 (+)Ensembl
RefSeq Acc Id: ENST00000440286   ⟹   ENSP00000394934
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,541,199 - 154,561,768 (+)Ensembl
RefSeq Acc Id: ENST00000445622   ⟹   ENSP00000395205
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,545,927 - 154,558,546 (+)Ensembl
RefSeq Acc Id: ENST00000492469   ⟹   ENSP00000484275
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,552,171 - 154,556,860 (+)Ensembl
RefSeq Acc Id: ENST00000594239   ⟹   ENSP00000471166
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,547,307 - 154,565,046 (+)Ensembl
RefSeq Acc Id: ENST00000611071   ⟹   ENSP00000479662
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,547,847 - 154,565,046 (+)Ensembl
RefSeq Acc Id: ENST00000611176   ⟹   ENSP00000478616
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,547,642 - 154,565,033 (+)Ensembl
RefSeq Acc Id: ENST00000612051   ⟹   ENSP00000480431
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,542,263 - 154,565,033 (+)Ensembl
RefSeq Acc Id: ENST00000615186   ⟹   ENSP00000479144
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,547,690 - 154,561,763 (+)Ensembl
RefSeq Acc Id: ENST00000615874   ⟹   ENSP00000483381
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,547,638 - 154,564,562 (+)Ensembl
RefSeq Acc Id: ENST00000617207   ⟹   ENSP00000484023
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,547,641 - 154,565,033 (+)Ensembl
RefSeq Acc Id: ENST00000617838
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,551,991 - 154,562,895 (+)Ensembl
RefSeq Acc Id: ENST00000618670   ⟹   ENSP00000483825
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,542,244 - 154,565,046 (+)Ensembl
RefSeq Acc Id: ENST00000619941   ⟹   ENSP00000478979
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,547,638 - 154,564,562 (+)Ensembl
RefSeq Acc Id: NM_001099856   ⟹   NP_001093326
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,542,212 - 154,565,046 (+)NCBI
GRCh37X153,769,419 - 153,796,804 (+)NCBI
Build 36X153,423,653 - 153,446,455 (+)NCBI Archive
HuRefX142,346,885 - 142,356,952 (+)ENTREZGENE
CHM1_1X153,682,224 - 153,705,030 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001099857   ⟹   NP_001093327
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,547,620 - 154,565,033 (+)NCBI
GRCh37X153,769,419 - 153,796,804 (+)NCBI
Build 36X153,428,756 - 153,446,455 (+)NCBI Archive
HuRefX142,346,885 - 142,356,952 (+)ENTREZGENE
CHM1_1X153,687,331 - 153,705,030 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001145255   ⟹   NP_001138727
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,547,620 - 154,565,046 (+)NCBI
GRCh37X153,769,419 - 153,796,804 (+)NCBI
HuRefX142,346,885 - 142,356,952 (+)ENTREZGENE
CHM1_1X153,687,331 - 153,705,030 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321396   ⟹   NP_001308325
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,542,212 - 154,565,046 (+)NCBI
CHM1_1X153,682,224 - 153,705,030 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321397   ⟹   NP_001308326
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,547,620 - 154,565,046 (+)NCBI
CHM1_1X153,687,331 - 153,705,030 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377312   ⟹   NP_001364241
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,541,238 - 154,565,046 (+)NCBI
RefSeq Acc Id: NM_001377313   ⟹   NP_001364242
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,541,238 - 154,565,046 (+)NCBI
RefSeq Acc Id: NM_001377314   ⟹   NP_001364243
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,547,620 - 154,565,046 (+)NCBI
RefSeq Acc Id: NM_001377315   ⟹   NP_001364244
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,547,620 - 154,565,046 (+)NCBI
RefSeq Acc Id: NM_003639   ⟹   NP_003630
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,547,847 - 154,565,046 (+)NCBI
GRCh37X153,769,419 - 153,796,804 (+)NCBI
Build 36X153,429,256 - 153,446,455 (+)NCBI Archive
HuRefX142,346,885 - 142,356,952 (+)ENTREZGENE
CHM1_1X153,687,831 - 153,705,030 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165197
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,547,620 - 154,565,046 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001093326 (Get FASTA)   NCBI Sequence Viewer  
  NP_001093327 (Get FASTA)   NCBI Sequence Viewer  
  NP_001138727 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308325 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308326 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364241 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364242 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364243 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364244 (Get FASTA)   NCBI Sequence Viewer  
  NP_003630 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC36330 (Get FASTA)   NCBI Sequence Viewer  
  AAD12183 (Get FASTA)   NCBI Sequence Viewer  
  AAD38081 (Get FASTA)   NCBI Sequence Viewer  
  AAF99679 (Get FASTA)   NCBI Sequence Viewer  
  AAH00299 (Get FASTA)   NCBI Sequence Viewer  
  AAH12114 (Get FASTA)   NCBI Sequence Viewer  
  AAH46922 (Get FASTA)   NCBI Sequence Viewer  
  AAH50612 (Get FASTA)   NCBI Sequence Viewer  
  AAL27012 (Get FASTA)   NCBI Sequence Viewer  
  AAM44073 (Get FASTA)   NCBI Sequence Viewer  
  AAV38427 (Get FASTA)   NCBI Sequence Viewer  
  CAB93146 (Get FASTA)   NCBI Sequence Viewer  
  EAW72677 (Get FASTA)   NCBI Sequence Viewer  
  EAW72678 (Get FASTA)   NCBI Sequence Viewer  
  EAW72679 (Get FASTA)   NCBI Sequence Viewer  
  EAW72680 (Get FASTA)   NCBI Sequence Viewer  
  EAW72681 (Get FASTA)   NCBI Sequence Viewer  
  Q9Y6K9 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001093326   ⟸   NM_001099856
- Peptide Label: isoform b
- UniProtKB: Q9Y6K9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001093327   ⟸   NM_001099857
- Peptide Label: isoform a
- UniProtKB: Q9Y6K9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001138727   ⟸   NM_001145255
- Peptide Label: isoform c
- UniProtKB: Q9Y6K9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_003630   ⟸   NM_003639
- Peptide Label: isoform a
- UniProtKB: Q9Y6K9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308325   ⟸   NM_001321396
- Peptide Label: isoform a
- UniProtKB: Q9Y6K9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308326   ⟸   NM_001321397
- Peptide Label: isoform d
- UniProtKB: Q9Y6K9 (UniProtKB/Swiss-Prot),   A0A087X1B1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001364241   ⟸   NM_001377312
- Peptide Label: isoform a
RefSeq Acc Id: NP_001364242   ⟸   NM_001377313
- Peptide Label: isoform d
RefSeq Acc Id: NP_001364243   ⟸   NM_001377314
- Peptide Label: isoform e
RefSeq Acc Id: NP_001364244   ⟸   NM_001377315
- Peptide Label: isoform f
RefSeq Acc Id: ENSP00000398579   ⟸   ENST00000413620
RefSeq Acc Id: ENSP00000484275   ⟸   ENST00000492469
RefSeq Acc Id: ENSP00000478616   ⟸   ENST00000611176
RefSeq Acc Id: ENSP00000479662   ⟸   ENST00000611071
RefSeq Acc Id: ENSP00000394934   ⟸   ENST00000440286
RefSeq Acc Id: ENSP00000480431   ⟸   ENST00000612051
RefSeq Acc Id: ENSP00000483381   ⟸   ENST00000615874
RefSeq Acc Id: ENSP00000479144   ⟸   ENST00000615186
RefSeq Acc Id: ENSP00000395205   ⟸   ENST00000445622
RefSeq Acc Id: ENSP00000484023   ⟸   ENST00000617207
RefSeq Acc Id: ENSP00000483825   ⟸   ENST00000618670
RefSeq Acc Id: ENSP00000478979   ⟸   ENST00000619941
RefSeq Acc Id: ENSP00000390368   ⟸   ENST00000422680
RefSeq Acc Id: ENSP00000471166   ⟸   ENST00000594239
Protein Domains
CCHC NOA-type   NEMO

Promoters
RGD ID:6808946
Promoter ID:HG_KWN:68675
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000061159,   OTTHUMT00000061160
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,422,496 - 153,422,996 (+)MPROMDB
RGD ID:6808949
Promoter ID:HG_KWN:68676
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000369607,   UC004FLZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,422,911 - 153,424,112 (+)MPROMDB
RGD ID:6808947
Promoter ID:HG_KWN:68677
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562
Transcripts:OTTHUMT00000316158
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,426,356 - 153,427,597 (+)MPROMDB
RGD ID:6808964
Promoter ID:HG_KWN:68680
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Lymphoblastoid
Transcripts:ENST00000393549,   NM_003639,   OTTHUMT00000061156,   OTTHUMT00000061161,   OTTHUMT00000316159,   OTTHUMT00000337961,   UC004FMA.2,   UC004FMC.2,   UC010NVA.1,   UC010NVB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,428,839 - 153,429,339 (+)MPROMDB
RGD ID:6853080
Promoter ID:EP74361
Type:initiation region
Name:HS_IKBKG
Description:Inhibitor of kappa light polypeptide gene enhancer in B-cells,kinase gamma.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,429,061 - 153,429,121EPD
RGD ID:6808963
Promoter ID:HG_KWN:68681
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000061162,   UC010NVC.1,   UC010NVD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,433,201 - 153,433,701 (+)MPROMDB
RGD ID:13628646
Promoter ID:EPDNEW_H29561
Type:initiation region
Name:IKBKG_3
Description:inhibitor of nuclear factor kappa B kinase subunit gamma
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29564  EPDNEW_H29566  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,542,238 - 154,542,298EPDNEW
RGD ID:13628652
Promoter ID:EPDNEW_H29564
Type:initiation region
Name:IKBKG_2
Description:inhibitor of nuclear factor kappa B kinase subunit gamma
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29561  EPDNEW_H29566  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,547,336 - 154,547,396EPDNEW
RGD ID:13628660
Promoter ID:EPDNEW_H29566
Type:initiation region
Name:IKBKG_1
Description:inhibitor of nuclear factor kappa B kinase subunit gamma
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29561  EPDNEW_H29564  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,547,642 - 154,547,702EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003639.4(IKBKG):c.188-1G>A single nucleotide variant not provided [RCV000519580] ChrX:154556164 [GRCh38]
ChrX:153784379 [GRCh37]
ChrX:Xq28
pathogenic
NM_003639.4(IKBKG):c.792dup (p.Gln265fs) duplication not provided [RCV000523493] ChrX:154562830..154562831 [GRCh38]
ChrX:153791045..153791046 [GRCh37]
ChrX:Xq28
pathogenic
NM_003639.4(IKBKG):c.1056-18C>T single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV000030047]|none provided [RCV001001776] ChrX:154563941 [GRCh38]
ChrX:153792156 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_003639.4(IKBKG):c.1056-6= single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV000030048]|none provided [RCV001001781] ChrX:154563953 [GRCh38]
ChrX:153792168 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_003639.4(IKBKG):c.262_264GAG[1] (p.Glu89del) microsatellite Ectodermal dysplasia and immunodeficiency 1 [RCV000030049] ChrX:154556238..154556240 [GRCh38]
ChrX:153784453..153784455 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_003639.4(IKBKG):c.399+19G>C single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV000030050] ChrX:154556395 [GRCh38]
ChrX:153784610 [GRCh37]
ChrX:Xq28
uncertain significance
NM_003639.4(IKBKG):c.470A>C (p.Gln157Pro) single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV000030051] ChrX:154558602 [GRCh38]
ChrX:153786817 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_003639.4(IKBKG):c.518+7C>T single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV000030052] ChrX:154558657 [GRCh38]
ChrX:153786872 [GRCh37]
ChrX:Xq28
uncertain significance
IKBKG, EX4-10DEL deletion Incontinentia pigmenti syndrome [RCV000012200] ChrX:Xq28 pathogenic
NM_003639.4(IKBKG):c.1110dup (p.Ala371fs) duplication Incontinentia pigmenti syndrome [RCV000012201] ChrX:154564007..154564008 [GRCh38]
ChrX:153792222..153792223 [GRCh37]
ChrX:Xq28
pathogenic
NM_003639.4(IKBKG):c.1219A>G (p.Met407Val) single nucleotide variant Incontinentia pigmenti syndrome [RCV000012202] ChrX:154564420 [GRCh38]
ChrX:153792635 [GRCh37]
ChrX:Xq28
pathogenic
NM_003639.4(IKBKG):c.1259A>G (p.Ter420Trp) single nucleotide variant ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED [RCV000012203]|Incontinentia pigmenti syndrome [RCV000170521] ChrX:154564460 [GRCh38]
ChrX:153792675 [GRCh37]
ChrX:Xq28
pathogenic
NM_001099857.5(IKBKG):c.120_129dup (p.Glu44fs) duplication Incontinentia pigmenti syndrome [RCV000012204] ChrX:154552119..154552120 [GRCh38]
ChrX:153780334..153780335 [GRCh37]
ChrX:Xq28
pathogenic
NM_003639.4(IKBKG):c.184C>T (p.Arg62Ter) single nucleotide variant Incontinentia pigmenti syndrome [RCV000012205]|not provided [RCV000256164] ChrX:154552186 [GRCh38]
ChrX:153780401 [GRCh37]
ChrX:Xq28
pathogenic
NM_003639.4(IKBKG):c.1171G>T (p.Glu391Ter) single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV000012206]|not provided [RCV000760425] ChrX:154564372 [GRCh38]
ChrX:153792587 [GRCh37]
ChrX:Xq28
pathogenic
NM_003639.4(IKBKG):c.1249T>C (p.Cys417Arg) single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV000012207] ChrX:154564450 [GRCh38]
ChrX:153792665 [GRCh37]
ChrX:Xq28
pathogenic
IKBKG, 1-BP DUP, 1167C duplication Hypohidrotic ectodermal dysplasia with immune deficiency [RCV000012209]|INCONTINENTIA PIGMENTI, ATYPICAL [RCV000170522]|INCONTINENTIA PIGMENTI, TYPE II, ATYPICAL [RCV000012210]|Incontinentia pigmenti, atypical [RCV000170522] ChrX:Xq28 pathogenic
NM_003639.4(IKBKG):c.1250G>T (p.Cys417Phe) single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV000012211]|not provided [RCV000059068] ChrX:154564451 [GRCh38]
ChrX:153792666 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_003639.4(IKBKG):c.1217A>T (p.Asp406Val) single nucleotide variant ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED [RCV000024285]|Incontinentia pigmenti syndrome [RCV001172474] ChrX:154564418 [GRCh38]
ChrX:153792633 [GRCh37]
ChrX:Xq28
pathogenic
NM_001099857.5(IKBKG):c.1166_1178dup (p.Asp394fs) duplication Incontinentia pigmenti syndrome [RCV000012213] ChrX:154564364..154564365 [GRCh38]
ChrX:153792579..153792580 [GRCh37]
ChrX:Xq28
pathogenic
IKBKG, 4.4-KB DUP duplication Ectodermal dysplasia and immunodeficiency 1 [RCV000012214] ChrX:Xq28 pathogenic
NM_003639.4(IKBKG):c.458T>G (p.Leu153Arg) single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV000012215] ChrX:154558590 [GRCh38]
ChrX:153786805 [GRCh37]
ChrX:Xq28
pathogenic
NM_003639.4(IKBKG):c.1207C>T (p.Gln403Ter) single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV000012216] ChrX:154564408 [GRCh38]
ChrX:153792623 [GRCh37]
ChrX:Xq28
pathogenic
NM_003639.4(IKBKG):c.768+5G>A single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV000012217] ChrX:154561789 [GRCh38]
ChrX:153790004 [GRCh37]
ChrX:Xq28
pathogenic
IKBKG, 1-BP INS, 1409A insertion Ectodermal dysplasia and immunodeficiency 1 [RCV000012218] ChrX:Xq28 pathogenic
IKBKG, IVS8, -1, G-A single nucleotide variant Immunodeficiency without anhidrotic ectodermal dysplasia [RCV000012219] ChrX:Xq28 pathogenic
NM_003639.4(IKBKG):c.111dup (p.Met38fs) duplication Familial atypical mycobacteriosis, type 1, X-linked [RCV000012220] ChrX:154552111..154552112 [GRCh38]
ChrX:153780326..153780327 [GRCh37]
ChrX:Xq28
pathogenic
NM_003639.4(IKBKG):c.863C>G (p.Ala288Gly) single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV000012221] ChrX:154562904 [GRCh38]
ChrX:153791119 [GRCh37]
ChrX:Xq28
pathogenic
NM_003639.4(IKBKG):c.944A>C (p.Glu315Ala) single nucleotide variant Familial atypical mycobacteriosis, type 1, X-linked [RCV000012222] ChrX:154563590 [GRCh38]
ChrX:153791805 [GRCh37]
ChrX:Xq28
pathogenic|risk factor
NM_003639.4(IKBKG):c.956G>A (p.Arg319Gln) single nucleotide variant Familial atypical mycobacteriosis, type 1, X-linked [RCV000012223] ChrX:154563602 [GRCh38]
ChrX:153791817 [GRCh37]
ChrX:Xq28
pathogenic|risk factor
NM_003639.4(IKBKG):c.517C>G (p.Arg173Gly) single nucleotide variant Familial atypical mycobacteriosis, type 1, X-linked [RCV000012224]|not provided [RCV000059072] ChrX:154558649 [GRCh38]
ChrX:153786864 [GRCh37]
ChrX:Xq28
pathogenic|not provided
NM_003639.4(IKBKG):c.1260G>C (p.Ter420Tyr) single nucleotide variant not provided [RCV000522162] ChrX:154564461 [GRCh38]
ChrX:153792676 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 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 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)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)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)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 Xq28(chrX:154394598-154554969)x1 copy number loss See cases [RCV000051760] ChrX:154394598..154554969 [GRCh38]
ChrX:153622940..153783184 [GRCh37]
ChrX:153276134..153436378 [NCBI36]
ChrX:Xq28
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:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 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 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 Xq28(chrX:154336596-154642063)x2 copy number gain See cases [RCV000054320] ChrX:154336596..154642063 [GRCh38]
ChrX:153564946..153870337 [GRCh37]
ChrX:153218140..153523531 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:154348522-154594454)x2 copy number gain See cases [RCV000054321] ChrX:154348522..154594454 [GRCh38]
ChrX:153576890..153822717 [GRCh37]
ChrX:153230084..153475911 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:154394598-154626056)x2 copy number gain See cases [RCV000054322] ChrX:154394598..154626056 [GRCh38]
ChrX:153622940..153854307 [GRCh37]
ChrX:153276134..153507501 [NCBI36]
ChrX:Xq28
uncertain significance
NM_003639.4(IKBKG):c.1250G>A (p.Cys417Tyr) single nucleotide variant not provided [RCV000059067] ChrX:154564451 [GRCh38]
ChrX:153792666 [GRCh37]
ChrX:Xq28
not provided
NM_001099857.5(IKBKG):c.169G>A (p.Glu57Lys) single nucleotide variant Familial atypical mycobacteriosis, type 1, X-linked [RCV001172482]|not provided [RCV000059069] ChrX:154552171 [GRCh38]
ChrX:153780386 [GRCh37]
ChrX:Xq28
pathogenic|benign|likely benign|not provided
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn) single nucleotide variant Familial atypical mycobacteriosis, type 1, X-linked [RCV001172486]|not provided [RCV000059070]|not specified [RCV000421968] ChrX:154556314 [GRCh38]
ChrX:153784529 [GRCh37]
ChrX:Xq28
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_003639.4(IKBKG):c.367C>T (p.Arg123Trp) single nucleotide variant not provided [RCV000059071] ChrX:154556344 [GRCh38]
ChrX:153784559 [GRCh37]
ChrX:Xq28
not provided
NM_003639.4(IKBKG):c.524G>C (p.Arg175Pro) single nucleotide variant not provided [RCV000059073] ChrX:154560412 [GRCh38]
ChrX:153788627 [GRCh37]
ChrX:Xq28
not provided
NM_003639.4(IKBKG):c.680T>C (p.Leu227Pro) single nucleotide variant not provided [RCV000059074] ChrX:154561696 [GRCh38]
ChrX:153789911 [GRCh37]
ChrX:Xq28
not provided
NM_003639.4(IKBKG):c.931G>A (p.Asp311Asn) single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV000589891]|not provided [RCV000059075] ChrX:154563577 [GRCh38]
ChrX:153791792 [GRCh37]
ChrX:Xq28
likely pathogenic|not provided
NM_003639.4(IKBKG):c.967G>C (p.Ala323Pro) single nucleotide variant not provided [RCV000059076] ChrX:154563613 [GRCh38]
ChrX:153791828 [GRCh37]
ChrX:Xq28
not provided
GRCh37/hg19 Xq28(chrX:153576750-154563104)x1 copy number loss See cases [RCV000663390] ChrX:153576750..154563104 [GRCh37]
ChrX:Xq28
pathogenic
NM_000402.4(G6PD):c.193_195delATC (p.Ile66del) microsatellite Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000011141]|G6PD SUNDERLAND [RCV000011140]|none provided [RCV001289910] ChrX:154546046..154546048 [GRCh38]
ChrX:153774261..153774263 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance|other
NM_000402.4(G6PD):c.185A>G (p.His62Arg) single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000798781]|G6PD GAOHE [RCV000011146] ChrX:154546061 [GRCh38]
ChrX:153774276 [GRCh37]
ChrX:Xq28
pathogenic|conflicting interpretations of pathogenicity|other
NM_001360016.2(G6PD):c.98T>C (p.Ile33Thr) single nucleotide variant not provided [RCV000175655] ChrX:154546058 [GRCh38]
ChrX:153774273 [GRCh37]
ChrX:Xq28
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)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)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 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-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: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:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 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 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 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 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 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 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: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 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 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 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 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 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 Xq28(chrX:154544685-154548174)x3 copy number gain See cases [RCV000137869] ChrX:154544685..154548174 [GRCh38]
ChrX:153772900..153776389 [GRCh37]
ChrX:153426094..153429583 [NCBI36]
ChrX:Xq28
uncertain significance
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 Xq28(chrX:154539013-154545901)x2 copy number gain See cases [RCV000139452] ChrX:154539013..154545901 [GRCh38]
ChrX:153767227..153774116 [GRCh37]
ChrX:153420421..153427310 [NCBI36]
ChrX:Xq28
uncertain significance
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:154559495-154736598)x2 copy number gain See cases [RCV000140472] ChrX:154559495..154736598 [GRCh38]
ChrX:153787710..153964873 [GRCh37]
ChrX:153440904..153618067 [NCBI36]
ChrX:Xq28
benign
GRCh38/hg38 Xq28(chrX:154348522-154770053)x2 copy number gain See cases [RCV000140492] ChrX:154348522..154770053 [GRCh38]
ChrX:153576890..153998328 [GRCh37]
ChrX:153230084..153651522 [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 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 Xq28(chrX:154503086-154604471)x2 copy number gain See cases [RCV000141604] ChrX:154503086..154604471 [GRCh38]
ChrX:153731421..153832724 [GRCh37]
ChrX:153384615..153485918 [NCBI36]
ChrX:Xq28
uncertain significance
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: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 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
NM_003639.4(IKBKG):c.868C>T (p.Gln290Ter) single nucleotide variant not provided [RCV000579283] ChrX:154562909 [GRCh38]
ChrX:153791124 [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
NM_003639.4(IKBKG):c.440C>T (p.Thr147Met) single nucleotide variant not provided [RCV000756275] ChrX:154558572 [GRCh38]
ChrX:153786787 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153627408-154089925)x2 copy number gain See cases [RCV000240046] ChrX:153627408..154089925 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 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
NM_001099856.6(IKBKG):c.190-4418T>C single nucleotide variant Glucose 6 phosphate dehydrogenase deficiency [RCV000277086] ChrX:154547570 [GRCh38]
ChrX:153775785 [GRCh37]
ChrX:Xq28
likely pathogenic|likely benign
NM_001360016.2(G6PD):c.120+7A>C single nucleotide variant Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV000872077]|Glucose 6 phosphate dehydrogenase deficiency [RCV000369276] ChrX:154546029 [GRCh38]
ChrX:153774244 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_003639.4(IKBKG):c.761G>A (p.Arg254Gln) single nucleotide variant not provided [RCV000489030] ChrX:154561777 [GRCh38]
ChrX:153789992 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_003639.4(IKBKG):c.497A>T (p.Glu166Val) single nucleotide variant not provided [RCV000489722] ChrX:154558629 [GRCh38]
ChrX:153786844 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_003639.4(IKBKG):c.766C>T (p.Arg256Ter) single nucleotide variant not provided [RCV000489758] ChrX:154561782 [GRCh38]
ChrX:153789997 [GRCh37]
ChrX:Xq28
pathogenic
NM_001360016.2(G6PD):c.120+9C>T single nucleotide variant not provided [RCV000348652] ChrX:154546027 [GRCh38]
ChrX:153774242 [GRCh37]
ChrX:Xq28
conflicting interpretations of pathogenicity|uncertain significance
NM_003639.4(IKBKG):c.519-3_519dup duplication not provided [RCV000599176] ChrX:154560403..154560404 [GRCh38]
ChrX:153788618..153788619 [GRCh37]
ChrX:Xq28
pathogenic
NM_003639.4(IKBKG):c.185G>A (p.Arg62Gln) single nucleotide variant Ectodermal dysplasia and immunodeficiency 1 [RCV000615929] ChrX:154552187 [GRCh38]
ChrX:153780402 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001360016.2(G6PD):c.120+3646C>T single nucleotide variant Familial atypical mycobacteriosis, type 1, X-linked [RCV000767994] ChrX:154542390 [GRCh38]
ChrX:153770605 [GRCh37]
ChrX:Xq28
uncertain significance
NM_003639.4(IKBKG):c.220del (p.Glu74fs) deletion not provided [RCV000413129] ChrX:154556195 [GRCh38]
ChrX:153784410 [GRCh37]
ChrX:Xq28
pathogenic
NM_003639.4(IKBKG):c.1167dup (p.Glu390fs) duplication Ectodermal dysplasia and immunodeficiency 1 [RCV000012209]|Incontinentia pigmenti syndrome [RCV001172473]|not provided [RCV000413717] ChrX:154564361..154564362 [GRCh38]
ChrX:153792576..153792577 [GRCh37]
ChrX:Xq28
pathogenic
NM_003639.4(IKBKG):c.672-2A>G single nucleotide variant not provided [RCV000414214] ChrX:154561686 [GRCh38]
ChrX:153789901 [GRCh37]
ChrX:Xq28
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 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
NM_003639.4(IKBKG):c.518G>A (p.Arg173Gln) single nucleotide variant not provided [RCV000432679] ChrX:154558650 [GRCh38]
ChrX:153786865 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_003639.4(IKBKG):c.606G>A (p.Leu202=) single nucleotide variant not specified [RCV000426391] ChrX:154560494 [GRCh38]
ChrX:153788709 [GRCh37]
ChrX:Xq28
likely benign
NM_003639.4(IKBKG):c.502C>T (p.Gln168Ter) single nucleotide variant not provided [RCV000442216] ChrX:154558634 [GRCh38]
ChrX:153786849 [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
NM_003639.4(IKBKG):c.1105_1106insG (p.Pro369fs) insertion not provided [RCV000482645] ChrX:154564008..154564009 [GRCh38]
ChrX:153792223..153792224 [GRCh37]
ChrX:Xq28
pathogenic
NM_003639.4(IKBKG):c.662del (p.Ser221fs) deletion not provided [RCV000478080] ChrX:154560550 [GRCh38]
ChrX:153788765 [GRCh37]
ChrX:Xq28
pathogenic
NM_003639.4(IKBKG):c.1258T>C (p.Ter420Gln) single nucleotide variant not provided [RCV000486745] ChrX:154564459 [GRCh38]
ChrX:153792674 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28
pathogenic
NM_003639.4(IKBKG):c.723C>G (p.Tyr241Ter) single nucleotide variant not provided [RCV000498451] ChrX:154561739 [GRCh38]
ChrX:153789954 [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
NM_003639.4(IKBKG):c.672-2A>T single nucleotide variant not provided [RCV000494051] ChrX:154561686 [GRCh38]
ChrX:153789901 [GRCh37]
ChrX:Xq28
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
NM_003639.4(IKBKG):c.652_662dup (p.Glu222fs) duplication not provided [RCV000493340] ChrX:154560538..154560539 [GRCh38]
ChrX:153788753..153788754 [GRCh37]
ChrX:Xq28
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 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_001099857.5(IKBKG):c.1117+5G>C single nucleotide variant ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED [RCV001172480]|Incontinentia pigmenti syndrome [RCV001172481]|not provided [RCV000523987] ChrX:154564025 [GRCh38]
ChrX:153792240 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
NC_000023.10:g.(?_153295726)_(153786885_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000645139] ChrX:153295726..153786885 [GRCh37]
ChrX:Xq28
pathogenic
NM_003639.4(IKBKG):c.768+2T>G single nucleotide variant not provided [RCV000523545] ChrX:154561786 [GRCh38]
ChrX:153790001 [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
NM_001360016.2(G6PD):c.120+3754C>T single nucleotide variant Inborn genetic diseases [RCV000622828]|not provided [RCV000659189] ChrX:154542282 [GRCh38]
ChrX:153770497 [GRCh37]
ChrX:Xq28
uncertain significance
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 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
GRCh37/hg19 Xq28(chrX:153581543-153858492)x2 copy number gain not provided [RCV000684413] ChrX:153581543..153858492 [GRCh37]
ChrX:Xq28
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 Xq28(chrX:153621005-153868484)x4 copy number gain not provided [RCV000684414] ChrX:153621005..153868484 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153723127-153792604)x1 copy number loss not provided [RCV000684415] ChrX:153723127..153792604 [GRCh37]
ChrX:Xq28
uncertain significance
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:153749360-155233731)x3 copy number gain not provided [RCV000684416] ChrX:153749360..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153560741-153858492)x2,3 copy number gain not provided [RCV000684745] ChrX:153560741..153858492 [GRCh37]
ChrX:Xq28
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
NM_001360016.2(G6PD):c.-9+7G>C single nucleotide variant not specified [RCV001000779] ChrX:154546782 [GRCh38]
ChrX:153774997 [GRCh37]
ChrX:Xq28
uncertain significance
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 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
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_001099857.5(IKBKG):c.518+866C>T single nucleotide variant IMMUNODEFICIENCY 33, MALE-RESTRICTED [RCV000757923]|Incontinentia pigmenti syndrome [RCV001172475] ChrX:154559516 [GRCh38]
ChrX:153787731 [GRCh37]
ChrX:Xq28
pathogenic
NM_003639.4(IKBKG):c.1060G>A (p.Glu354Lys) single nucleotide variant not specified [RCV000781477] ChrX:154563963 [GRCh38]
ChrX:153792178 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153761240-155227607) copy number loss not provided [RCV000767811] ChrX:153761240..155227607 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_003639.4(IKBKG):c.1056-17G>A single nucleotide variant not provided [RCV000826374] ChrX:154563942 [GRCh38]
ChrX:153792157 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:153609873-153815499)x3 copy number gain not provided [RCV000847592] ChrX:153609873..153815499 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
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
NM_001360016.2(G6PD):c.88G>T (p.Asp30Tyr) single nucleotide variant Glucose 6 phosphate dehydrogenase deficiency [RCV001169145] ChrX:154546068 [GRCh38]
ChrX:153774283 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NC_000023.10:g.(?_152954020)_(154096327_?)del deletion Adrenoleukodystrophy [RCV000815921] ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153556428-153868487)x2 copy number gain not provided [RCV000845970] ChrX:153556428..153868487 [GRCh37]
ChrX:Xq28
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
NM_001360016.2(G6PD):c.120+3617T>C single nucleotide variant not specified [RCV001001330] ChrX:154542419 [GRCh38]
ChrX:153770634 [GRCh37]
ChrX:Xq28
benign
NM_001099857.5(IKBKG):c.358C>T (p.Gln120Ter) single nucleotide variant Incontinentia pigmenti syndrome [RCV001199162] ChrX:154556335 [GRCh38]
ChrX:153784550 [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 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
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 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
IKBKG, 2-BP DEL, 1182TT deletion ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED [RCV001172478]|Incontinentia pigmenti syndrome [RCV001172479] ChrX:Xq28 pathogenic
NM_001099857.5(IKBKG):c.811_828del (p.Glu271_Ala276del) deletion Familial atypical mycobacteriosis, type 1, X-linked [RCV001172476] ChrX:154562848..154562865 [GRCh38]
ChrX:153791063..153791080 [GRCh37]
ChrX:Xq28
pathogenic
NM_001099857.5(IKBKG):c.-16+344G>C single nucleotide variant Familial atypical mycobacteriosis, type 1, X-linked [RCV001172483] ChrX:154548089 [GRCh38]
ChrX:153776304 [GRCh37]
ChrX:Xq28
pathogenic
NM_001042351.3(G6PD):c.-9+14C>G single nucleotide variant Glucose 6 phosphate dehydrogenase deficiency [RCV001169146] ChrX:154547454 [GRCh38]
ChrX:153775669 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001042351.3(G6PD):c.-23G>A single nucleotide variant Glucose 6 phosphate dehydrogenase deficiency [RCV001169147] ChrX:154547482 [GRCh38]
ChrX:153775697 [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
NM_001099857.5(IKBKG):c.239T>C (p.Leu80Pro) single nucleotide variant Familial atypical mycobacteriosis, type 1, X-linked [RCV001172477] ChrX:154556216 [GRCh38]
ChrX:153784431 [GRCh37]
ChrX:Xq28
pathogenic
NM_001099857.5(IKBKG):c.1117+1G>A single nucleotide variant ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED [RCV001172484]|Incontinentia pigmenti syndrome [RCV001172485] ChrX:154564021 [GRCh38]
ChrX:153792236 [GRCh37]
ChrX:Xq28
pathogenic
NM_001099857.5(IKBKG):c.706C>T (p.Gln236Ter) single nucleotide variant Incontinentia pigmenti syndrome [RCV001251338] ChrX:154561722 [GRCh38]
ChrX:153789937 [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 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
NM_001099857.5(IKBKG):c.519-2A>C single nucleotide variant NEMO deleted exon 5-autoinflammatory syndrome (NEMO-NDAS) [RCV001310079] ChrX:154560405 [GRCh38]
ChrX:153788620 [GRCh37]
ChrX:Xq28
likely pathogenic
NC_000023.10:g.(?_153760215)_(153775961_?)dup duplication Anemia, nonspherocytic hemolytic, due to G6PD deficiency [RCV001351092] ChrX:153760215..153775961 [GRCh37]
ChrX:Xq28
uncertain significance
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:5961 AgrOrtholog
COSMIC IKBKG COSMIC
Ensembl Genes ENSG00000269335 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000390368 UniProtKB/TrEMBL
  ENSP00000394934 UniProtKB/TrEMBL
  ENSP00000395205 UniProtKB/TrEMBL
  ENSP00000398579 UniProtKB/TrEMBL
  ENSP00000471166 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000478616 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000478979 UniProtKB/TrEMBL
  ENSP00000479144 UniProtKB/TrEMBL
  ENSP00000479662 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000480431 UniProtKB/TrEMBL
  ENSP00000483381 UniProtKB/TrEMBL
  ENSP00000483825 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000484023 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000484275 UniProtKB/TrEMBL
Ensembl Transcript ENST00000413620 UniProtKB/TrEMBL
  ENST00000422680 UniProtKB/TrEMBL
  ENST00000440286 UniProtKB/TrEMBL
  ENST00000445622 UniProtKB/TrEMBL
  ENST00000492469 UniProtKB/TrEMBL
  ENST00000594239 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000611071 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000611176 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000612051 UniProtKB/TrEMBL
  ENST00000615186 UniProtKB/TrEMBL
  ENST00000615874 UniProtKB/TrEMBL
  ENST00000617207 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000618670 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000619941 UniProtKB/TrEMBL
GTEx ENSG00000269335 GTEx
HGNC ID HGNC:5961 ENTREZGENE
Human Proteome Map IKBKG Human Proteome Map
InterPro CC2-LZ_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NEMO_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NEMO_ZF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8517 UniProtKB/Swiss-Prot
NCBI Gene 8517 ENTREZGENE
OMIM 300248 OMIM
  300291 OMIM
  300636 OMIM
  308300 OMIM
Pfam CC2-LZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NEMO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29777 PharmGKB
PROSITE ZF_CCHC_NOA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WUW6_HUMAN UniProtKB/TrEMBL
  A0A087WV30_HUMAN UniProtKB/TrEMBL
  A0A087WWQ9_HUMAN UniProtKB/TrEMBL
  A0A087X0G7_HUMAN UniProtKB/TrEMBL
  A0A087X1B1 ENTREZGENE, UniProtKB/TrEMBL
  A0A087X1K7_HUMAN UniProtKB/TrEMBL
  C9J2V2_HUMAN UniProtKB/TrEMBL
  C9JCG6_HUMAN UniProtKB/TrEMBL
  C9JH59_HUMAN UniProtKB/TrEMBL
  C9JN51_HUMAN UniProtKB/TrEMBL
  D3DWY0_HUMAN UniProtKB/TrEMBL
  D3DWY2_HUMAN UniProtKB/TrEMBL
  NEMO_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q7LBY6 UniProtKB/Swiss-Prot
  Q7Z7F1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-02-19 IKBKG  inhibitor of nuclear factor kappa B kinase regulatory subunit gamma    inhibitor of nuclear factor kappa B kinase subunit gamma  Symbol and/or name change 5135510 APPROVED
2017-08-16 IKBKG  inhibitor of nuclear factor kappa B kinase subunit gamma  IP1  incontinentia pigmenti 1 (sporadic, associated with X chromosome rearrangements)  Data Merged 737654 PROVISIONAL
2017-01-17 IKBKG  inhibitor of nuclear factor kappa B kinase subunit gamma    inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma  Symbol and/or name change 5135510 APPROVED
2016-10-24 IKBKG  inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma  IP2  incontinentia pigmenti 2 (familial, male-lethal type)  Data Merged 737654 PROVISIONAL