IKBKE (inhibitor of nuclear factor kappa B kinase subunit epsilon) - Rat Genome Database

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Gene: IKBKE (inhibitor of nuclear factor kappa B kinase subunit epsilon) Homo sapiens
Analyze
Symbol: IKBKE
Name: inhibitor of nuclear factor kappa B kinase subunit epsilon
RGD ID: 1318072
HGNC Page HGNC:14552
Description: Enables several functions, including K48-linked polyubiquitin modification-dependent protein binding activity; identical protein binding activity; and ubiquitin protein ligase binding activity. Involved in several processes, including intrinsic apoptotic signaling pathway in response to DNA damage; positive regulation of signal transduction; and positive regulation of type I interferon production. Located in PML body and mitochondrial membrane. Is active in cytoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: I-kappa-B kinase epsilon; IKK-E; IKK-epsilon; IKK-i; IKK-related kinase epsilon; IKKE; IKKI; inducible I kappa-B kinase; inducible IkappaB kinase; inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon; inhibitor of nuclear factor kappa-B kinase subunit epsilon; KIAA0151; MGC125294; MGC125295; MGC125297
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381206,470,476 - 206,496,889 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1206,470,476 - 206,496,889 (+)EnsemblGRCh38hg38GRCh38
GRCh371206,643,819 - 206,670,222 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361204,710,419 - 204,736,845 (+)NCBINCBI36Build 36hg18NCBI36
Build 341203,032,190 - 203,058,617NCBI
Celera1179,895,028 - 179,921,668 (+)NCBICelera
Cytogenetic Map1q32.1NCBI
HuRef1177,341,834 - 177,368,529 (+)NCBIHuRef
CHM1_11207,915,782 - 207,942,429 (+)NCBICHM1_1
T2T-CHM13v2.01205,734,655 - 205,761,052 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
(2,4,5-trichlorophenoxy)acetic acid  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
4-hydroxy-TEMPO  (EXP)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
acetamide  (ISO)
acrolein  (ISO)
aflatoxin B1  (EXP,ISO)
aldrin  (ISO)
amlexanox  (EXP,ISO)
andrographolide  (ISO)
aripiprazole  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
brilliant green  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
chloroethene  (ISO)
cisplatin  (EXP)
copper(II) sulfate  (ISO)
crystal violet  (EXP)
cyproconazole  (ISO)
daunorubicin  (EXP)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diallyl trisulfide  (EXP)
diclofenac  (ISO)
diethyl maleate  (ISO)
dioxygen  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
gentamycin  (ISO)
hexadecanoic acid  (ISO)
hydrogen peroxide  (EXP)
indole-3-methanol  (ISO)
inulin  (ISO)
lipopolysaccharide  (ISO)
melphalan  (EXP)
motexafin gadolinium  (EXP)
nickel atom  (EXP)
nickel dichloride  (EXP)
ozone  (EXP,ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
poly(I:C)  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
silicon dioxide  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
succimer  (ISO)
sucrose  (ISO)
sunitinib  (EXP)
testosterone  (EXP)
tetrachloroethene  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
triadimefon  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (ISO)
zinc acetate  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8590280   PMID:8889548   PMID:9914500   PMID:10421793   PMID:10759890   PMID:10882136   PMID:11470787   PMID:11839743   PMID:11902829   PMID:11959143   PMID:12133833   PMID:12477932  
PMID:12676577   PMID:12692549   PMID:12736252   PMID:12761501   PMID:14560022   PMID:14702039   PMID:14743216   PMID:15276183   PMID:15367631   PMID:15489227   PMID:15489334   PMID:15550384  
PMID:15556946   PMID:15661910   PMID:15695821   PMID:15767399   PMID:15879144   PMID:15939554   PMID:16177806   PMID:16281057   PMID:16299251   PMID:16344560   PMID:16380379   PMID:16393995  
PMID:16710414   PMID:16731946   PMID:16840782   PMID:16876765   PMID:16888014   PMID:16914100   PMID:17003035   PMID:17142768   PMID:17327220   PMID:17328045   PMID:17353931   PMID:17468758  
PMID:17568778   PMID:17574021   PMID:17599067   PMID:17600090   PMID:17823124   PMID:18029348   PMID:18353649   PMID:18434448   PMID:18636086   PMID:18636090   PMID:19153231   PMID:19380491  
PMID:19380580   PMID:19481526   PMID:19497997   PMID:19786281   PMID:19820708   PMID:19913121   PMID:20188669   PMID:20449947   PMID:20581830   PMID:20588308   PMID:20628086   PMID:20634891  
PMID:20657822   PMID:21171089   PMID:21179067   PMID:21200404   PMID:21212807   PMID:21221132   PMID:21271611   PMID:21464307   PMID:21685032   PMID:21718646   PMID:21813773   PMID:21873635  
PMID:21885437   PMID:21903422   PMID:21931555   PMID:21931631   PMID:22065572   PMID:22072751   PMID:22079989   PMID:22266464   PMID:22312431   PMID:22531926   PMID:22532683   PMID:22552702  
PMID:22619329   PMID:22787218   PMID:22851696   PMID:22939624   PMID:22942254   PMID:23007157   PMID:23066157   PMID:23096996   PMID:23157677   PMID:23308279   PMID:23365428   PMID:23453969  
PMID:23453971   PMID:23478265   PMID:23535865   PMID:23816933   PMID:23873932   PMID:23950712   PMID:24155403   PMID:24173023   PMID:24184958   PMID:24224717   PMID:24335286   PMID:24396068  
PMID:24401319   PMID:24509444   PMID:24622840   PMID:24706939   PMID:24722368   PMID:24763515   PMID:24867235   PMID:24882218   PMID:25036637   PMID:25365225   PMID:25531185   PMID:25540417  
PMID:25656572   PMID:25780039   PMID:25852190   PMID:25939384   PMID:26025939   PMID:26177467   PMID:26186972   PMID:26354181   PMID:26519536   PMID:26647356   PMID:26934326   PMID:27123832  
PMID:27145266   PMID:27307491   PMID:27606466   PMID:27622505   PMID:27705791   PMID:27923829   PMID:27980081   PMID:28011935   PMID:28069799   PMID:28198528   PMID:28346439   PMID:28481329  
PMID:28532474   PMID:28548934   PMID:28600291   PMID:28677425   PMID:29069487   PMID:29125880   PMID:29251827   PMID:29333957   PMID:29496994   PMID:29755980   PMID:29801480   PMID:29920243  
PMID:30021884   PMID:30029010   PMID:30032344   PMID:30082428   PMID:30289335   PMID:30332343   PMID:30349097   PMID:30420664   PMID:30504235   PMID:30529153   PMID:30615901   PMID:30682859  
PMID:31072618   PMID:31534043   PMID:31662325   PMID:31690057   PMID:31865606   PMID:32146614   PMID:32298923   PMID:32324216   PMID:32476569   PMID:32511263   PMID:32656094   PMID:32707033  
PMID:32783398   PMID:32814053   PMID:32858764   PMID:33246224   PMID:33370582   PMID:33961781   PMID:34079066   PMID:34084167   PMID:34239064   PMID:34257412   PMID:34260286   PMID:34518217  
PMID:34741724   PMID:34908452   PMID:35066576   PMID:35099607   PMID:35289316   PMID:35820905   PMID:35930382   PMID:35941131   PMID:36056146   PMID:36530063   PMID:36736316   PMID:36774506  
PMID:36788451   PMID:36931259   PMID:36936901   PMID:36943869   PMID:37023504   PMID:37130168   PMID:37573607   PMID:39000042  


Genomics

Comparative Map Data
IKBKE
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381206,470,476 - 206,496,889 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1206,470,476 - 206,496,889 (+)EnsemblGRCh38hg38GRCh38
GRCh371206,643,819 - 206,670,222 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361204,710,419 - 204,736,845 (+)NCBINCBI36Build 36hg18NCBI36
Build 341203,032,190 - 203,058,617NCBI
Celera1179,895,028 - 179,921,668 (+)NCBICelera
Cytogenetic Map1q32.1NCBI
HuRef1177,341,834 - 177,368,529 (+)NCBIHuRef
CHM1_11207,915,782 - 207,942,429 (+)NCBICHM1_1
T2T-CHM13v2.01205,734,655 - 205,761,052 (+)NCBIT2T-CHM13v2.0
Ikbke
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391131,182,337 - 131,207,339 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1131,182,080 - 131,207,344 (-)EnsemblGRCm39 Ensembl
GRCm381131,254,600 - 131,279,601 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1131,254,343 - 131,279,606 (-)EnsemblGRCm38mm10GRCm38
MGSCv371133,151,179 - 133,176,140 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361133,082,148 - 133,107,109 (-)NCBIMGSCv36mm8
Celera1133,876,834 - 133,902,322 (-)NCBICelera
Cytogenetic Map1E4NCBI
cM Map156.93NCBI
Ikbke
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81345,264,404 - 45,290,737 (-)NCBIGRCr8
mRatBN7.21342,712,154 - 42,738,470 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1342,712,159 - 42,737,143 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1345,320,191 - 45,345,227 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01346,608,323 - 46,633,354 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01343,872,035 - 43,897,029 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01348,031,325 - 48,056,394 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1348,031,410 - 48,056,394 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01353,107,093 - 53,132,162 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41344,197,625 - 44,222,609 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11344,211,668 - 44,233,796 (-)NCBI
Celera1343,057,856 - 43,082,833 (-)NCBICelera
Cytogenetic Map13q13NCBI
Ikbke
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540642,056,014 - 42,077,701 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540642,056,014 - 42,077,701 (+)NCBIChiLan1.0ChiLan1.0
IKBKE
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2142,881,624 - 42,909,446 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1142,847,151 - 42,873,352 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01182,070,565 - 182,096,797 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11186,351,807 - 186,377,970 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1186,351,807 - 186,377,971 (+)Ensemblpanpan1.1panPan2
IKBKE
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1382,747,303 - 2,772,574 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl382,747,297 - 2,772,587 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha382,839,619 - 2,864,841 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0382,744,869 - 2,770,037 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl382,744,859 - 2,770,035 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1382,738,094 - 2,763,301 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0383,131,469 - 3,156,703 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0383,331,693 - 3,356,866 (+)NCBIUU_Cfam_GSD_1.0
Ikbke
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934468,825,925 - 68,851,246 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365576,066,207 - 6,090,767 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IKBKE
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl967,123,265 - 67,147,989 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1967,123,055 - 67,147,991 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2973,367,929 - 73,388,131 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IKBKE
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12522,865,720 - 22,892,346 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2522,865,734 - 22,891,920 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605523,564,077 - 23,591,390 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ikbke
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248074,913,742 - 4,933,267 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248074,913,734 - 4,934,096 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IKBKE
39 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11		 pathogenic
GRCh38/hg38 1q32.1-32.2(chr1:204990129-210220258)x3 copy number gain See cases [RCV000051859] Chr1:204990129..210220258 [GRCh38]
Chr1:204959257..210572305 [GRCh37]
Chr1:203225880..208638928 [NCBI36]
Chr1:1q32.1-32.2		 pathogenic
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 copy number gain See cases [RCV000142054] Chr1:204764914..225408698 [GRCh38]
Chr1:204734042..225596400 [GRCh37]
Chr1:203000665..223663023 [NCBI36]
Chr1:1q32.1-42.12		 pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13		 pathogenic
NM_014002.4(IKBKE):c.541-5G>A single nucleotide variant Autoimmune connective tissue disease and vasculitis [RCV001269035]|not provided [RCV002480881] Chr1:206476673 [GRCh38]
Chr1:206650016 [GRCh37]
Chr1:1q32.1		 uncertain significance|no classifications from unflagged records
NM_014002.4(IKBKE):c.1261G>A (p.Ala421Thr) single nucleotide variant not specified [RCV004309003] Chr1:206480034 [GRCh38]
Chr1:206653377 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646) copy number loss Global developmental delay [RCV000626524] Chr1:204682513..212815646 [GRCh37]
Chr1:1q32.1-32.3		 pathogenic
NM_014002.4(IKBKE):c.1988C>T (p.Ala663Val) single nucleotide variant not specified [RCV004314375] Chr1:206493321 [GRCh38]
Chr1:206666654 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.227C>T (p.Thr76Met) single nucleotide variant not specified [RCV004332845] Chr1:206474470 [GRCh38]
Chr1:206647813 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q32.1(chr1:206539637-206661564)x1 copy number loss not provided [RCV000684692] Chr1:206539637..206661564 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NC_000001.11:g.(?_204033173)_(208209798_?)del deletion Autism [RCV000754138] Chr1:204033173..208209798 [GRCh38]
Chr1:1q32.1-32.2		 likely pathogenic
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41		 pathogenic
NM_014002.4(IKBKE):c.146G>A (p.Arg49His) single nucleotide variant not specified [RCV004288334] Chr1:206474389 [GRCh38]
Chr1:206647732 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.1134C>G (p.Pro378=) single nucleotide variant not provided [RCV000958852] Chr1:206479084 [GRCh38]
Chr1:206652427 [GRCh37]
Chr1:1q32.1		 benign
NM_014002.4(IKBKE):c.906C>T (p.Thr302=) single nucleotide variant not provided [RCV000972212] Chr1:206478253 [GRCh38]
Chr1:206651596 [GRCh37]
Chr1:1q32.1		 benign
NM_014002.4(IKBKE):c.87+9C>A single nucleotide variant not provided [RCV000894303] Chr1:206473323 [GRCh38]
Chr1:206646666 [GRCh37]
Chr1:1q32.1		 benign
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3 copy number gain not provided [RCV001249273] Chr1:194356425..210988710 [GRCh37]
Chr1:1q31.3-32.2		 not provided
GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3 copy number gain not provided [RCV000848713] Chr1:206329070..213263817 [GRCh37]
Chr1:1q32.1-32.3		 uncertain significance
NM_014002.4(IKBKE):c.701+5G>A single nucleotide variant not provided [RCV000948236] Chr1:206476843 [GRCh38]
Chr1:206650186 [GRCh37]
Chr1:1q32.1		 likely benign
NM_014002.4(IKBKE):c.516G>A (p.Ser172=) single nucleotide variant not provided [RCV000894420] Chr1:206476338 [GRCh38]
Chr1:206649681 [GRCh37]
Chr1:1q32.1		 benign
NM_014002.4(IKBKE):c.595G>A (p.Gly199Arg) single nucleotide variant not specified [RCV004139080] Chr1:206476732 [GRCh38]
Chr1:206650075 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NC_000001.10:g.(?_200522516)_(206945780_?)dup duplication Epilepsy, familial adult myoclonic, 5 [RCV003116306] Chr1:200522516..206945780 [GRCh37]
Chr1:1q32.1		 uncertain significance
NC_000001.10:g.(?_200522516)_(208391267_?)dup duplication Hypokalemic periodic paralysis, type 1 [RCV003119239]|not provided [RCV003119240] Chr1:200522516..208391267 [GRCh37]
Chr1:1q32.1-32.2		 uncertain significance|no classifications from unflagged records
NM_014002.4(IKBKE):c.1264G>A (p.Gly422Ser) single nucleotide variant not specified [RCV004317009] Chr1:206480037 [GRCh38]
Chr1:206653380 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3 copy number gain not provided [RCV002475637] Chr1:181453460..213107248 [GRCh37]
Chr1:1q25.3-32.3		 pathogenic
NM_014002.4(IKBKE):c.52G>A (p.Gly18Arg) single nucleotide variant not specified [RCV004145312] Chr1:206473279 [GRCh38]
Chr1:206646622 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.1322G>A (p.Arg441Gln) single nucleotide variant not specified [RCV004140604] Chr1:206480095 [GRCh38]
Chr1:206653438 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.2113G>C (p.Glu705Gln) single nucleotide variant not specified [RCV004139023] Chr1:206493987 [GRCh38]
Chr1:206667320 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.1952A>G (p.His651Arg) single nucleotide variant not specified [RCV004101850] Chr1:206493285 [GRCh38]
Chr1:206666618 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.1345G>A (p.Val449Met) single nucleotide variant not specified [RCV004162006] Chr1:206480451 [GRCh38]
Chr1:206653794 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.590C>T (p.Ala197Val) single nucleotide variant not specified [RCV004131977] Chr1:206476727 [GRCh38]
Chr1:206650070 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.2000C>G (p.Pro667Arg) single nucleotide variant not specified [RCV004112297] Chr1:206493333 [GRCh38]
Chr1:206666666 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.1897A>G (p.Thr633Ala) single nucleotide variant not specified [RCV004179083] Chr1:206493084 [GRCh38]
Chr1:206666417 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.763G>A (p.Gly255Arg) single nucleotide variant not specified [RCV004166048] Chr1:206477810 [GRCh38]
Chr1:206651153 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.1237A>T (p.Asn413Tyr) single nucleotide variant not specified [RCV004142647] Chr1:206479923 [GRCh38]
Chr1:206653266 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.139C>T (p.Arg47Trp) single nucleotide variant not specified [RCV004193149] Chr1:206474382 [GRCh38]
Chr1:206647725 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.382G>A (p.Glu128Lys) single nucleotide variant not specified [RCV004254800] Chr1:206476204 [GRCh38]
Chr1:206649547 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.1973C>T (p.Ala658Val) single nucleotide variant not specified [RCV004260301] Chr1:206493306 [GRCh38]
Chr1:206666639 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.1367G>A (p.Arg456Gln) single nucleotide variant not specified [RCV004300085] Chr1:206480473 [GRCh38]
Chr1:206653816 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.1047C>A (p.His349Gln) single nucleotide variant not specified [RCV004353479] Chr1:206478997 [GRCh38]
Chr1:206652340 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.1953C>G (p.His651Gln) single nucleotide variant not specified [RCV004362347] Chr1:206493286 [GRCh38]
Chr1:206666619 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.577C>T (p.Pro193Ser) single nucleotide variant not specified [RCV004348454] Chr1:206476714 [GRCh38]
Chr1:206650057 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.574A>G (p.Lys192Glu) single nucleotide variant not specified [RCV004339616] Chr1:206476711 [GRCh38]
Chr1:206650054 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.136C>T (p.Leu46=) single nucleotide variant not provided [RCV003414731] Chr1:206474379 [GRCh38]
Chr1:206647722 [GRCh37]
Chr1:1q32.1		 likely benign
NM_014002.4(IKBKE):c.745G>A (p.Ala249Thr) single nucleotide variant not provided [RCV003414732] Chr1:206477792 [GRCh38]
Chr1:206651135 [GRCh37]
Chr1:1q32.1		 likely benign
NM_014002.4(IKBKE):c.442G>C (p.Glu148Gln) single nucleotide variant not specified [RCV004404884] Chr1:206476264 [GRCh38]
Chr1:206649607 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.504G>T (p.Glu168Asp) single nucleotide variant not specified [RCV004404885] Chr1:206476326 [GRCh38]
Chr1:206649669 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.787C>T (p.Leu263Phe) single nucleotide variant not specified [RCV004404886] Chr1:206477834 [GRCh38]
Chr1:206651177 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.903G>C (p.Glu301Asp) single nucleotide variant not specified [RCV004404887] Chr1:206478250 [GRCh38]
Chr1:206651593 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.202G>A (p.Val68Ile) single nucleotide variant not specified [RCV004402899] Chr1:206474445 [GRCh38]
Chr1:206647788 [GRCh37]
Chr1:1q32.1		 likely benign
NM_014002.4(IKBKE):c.1358C>A (p.Thr453Lys) single nucleotide variant not specified [RCV004402893] Chr1:206480464 [GRCh38]
Chr1:206653807 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.137T>C (p.Leu46Pro) single nucleotide variant not specified [RCV004402894] Chr1:206474380 [GRCh38]
Chr1:206647723 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.1407C>A (p.Ser469Arg) single nucleotide variant not specified [RCV004402895] Chr1:206480513 [GRCh38]
Chr1:206653856 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.1472C>T (p.Ala491Val) single nucleotide variant not specified [RCV004402896] Chr1:206485041 [GRCh38]
Chr1:206658378 [GRCh37]
Chr1:1q32.1		 likely benign
NM_014002.4(IKBKE):c.179G>A (p.Arg60Gln) single nucleotide variant not specified [RCV004402897] Chr1:206474422 [GRCh38]
Chr1:206647765 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.1919A>G (p.Glu640Gly) single nucleotide variant not specified [RCV004402898] Chr1:206493106 [GRCh38]
Chr1:206666439 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_014002.4(IKBKE):c.2099A>G (p.Asn700Ser) single nucleotide variant not specified [RCV004402900] Chr1:206493973 [GRCh38]
Chr1:206667306 [GRCh37]
Chr1:1q32.1		 uncertain significance
NC_000001.10:g.(?_190829412)_(216061974_?)del deletion not provided [RCV004579260] Chr1:190829412..216061974 [GRCh37]
Chr1:1q31.2-41		 pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR296hsa-miR-296-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22114321
MIR296hsa-miR-296-5pMirecordsexternal_infoNANA22114321
MIR155hsa-miR-155-3pMirecordsexternal_info{changed}NA19650740
MIR155hsa-miR-155-5pMirtarbaseexternal_infoqRT-PCR//Western blotFunctional MTI18753206

Predicted Target Of
Summary Value
Count of predictions:954
Count of miRNA genes:612
Interacting mature miRNAs:673
Transcripts:ENST00000367120, ENST00000463979, ENST00000492570, ENST00000537984
Prediction methods:Microtar, Miranda, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407216645GWAS865621_Hlymphocyte count QTL GWAS865621 (human)7e-22lymphocyte countblood lymphocyte count (CMO:0000031)1206496132206496133Human
407209446GWAS858422_Hlymphocyte count QTL GWAS858422 (human)2e-27lymphocyte countblood lymphocyte count (CMO:0000031)1206496132206496133Human
407310756GWAS959732_Hserum non-albumin protein measurement QTL GWAS959732 (human)4e-13serum non-albumin protein measurementserum globulin level (CMO:0002399)1206482021206482022Human
407075527GWAS724503_Htotal blood protein measurement QTL GWAS724503 (human)7e-09total blood protein measurementblood protein measurement (CMO:0000028)1206475426206475427Human
407110753GWAS759729_Heosinophil count QTL GWAS759729 (human)1e-08eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)1206481155206481156Human
406907302GWAS556278_Hpsoriasis QTL GWAS556278 (human)2e-08psoriasis1206481989206481990Human
406939911GWAS588887_Heosinophil percentage of leukocytes QTL GWAS588887 (human)2e-12eosinophil percentage of leukocytesblood eosinophil count to total leukocyte count ratio (CMO:0000369)1206484465206484466Human
407179683GWAS828659_Hallergic disease QTL GWAS828659 (human)0.000008allergic disease1206472931206472932Human
407169167GWAS818143_Hlymphocyte count QTL GWAS818143 (human)1e-15lymphocyte countblood lymphocyte count (CMO:0000031)1206496132206496133Human
407060015GWAS708991_Heosinophil count QTL GWAS708991 (human)6e-11eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)1206483839206483840Human
407134824GWAS783800_HIGA glomerulonephritis QTL GWAS783800 (human)0.000002IGA glomerulonephritis1206482950206482951Human
407068467GWAS717443_Hblood protein measurement QTL GWAS717443 (human)9e-10blood protein measurementblood protein measurement (CMO:0000028)1206482021206482022Human
407128663GWAS777639_Hlymphocyte count QTL GWAS777639 (human)1e-26lymphocyte countblood lymphocyte count (CMO:0000031)1206496132206496133Human
407211921GWAS860897_Hlymphocyte percentage of leukocytes QTL GWAS860897 (human)6e-11lymphocyte percentage of leukocytesblood lymphocyte count to total leukocyte count ratio (CMO:0000371)1206496132206496133Human
407250771GWAS899747_Hlymphocyte count QTL GWAS899747 (human)2e-14lymphocyte countblood lymphocyte count (CMO:0000031)1206496132206496133Human
407136639GWAS785615_HCOVID-19 QTL GWAS785615 (human)0.0000001COVID-191206494906206494907Human

Markers in Region
STS-AA022666  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371206,669,960 - 206,670,197UniSTSGRCh37
Build 361204,736,583 - 204,736,820RGDNCBI36
Celera1179,921,405 - 179,921,642RGD
Cytogenetic Map1q32.1UniSTS
HuRef1177,368,266 - 177,368,503UniSTS
GeneMap99-GB4 RH Map1681.85UniSTS
SHGC-76223  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371206,669,800 - 206,669,901UniSTSGRCh37
Build 361204,736,423 - 204,736,524RGDNCBI36
Celera1179,921,245 - 179,921,346RGD
Cytogenetic Map1q32.1UniSTS
HuRef1177,368,106 - 177,368,207UniSTS
TNG Radiation Hybrid Map1100275.0UniSTS
GeneMap99-GB4 RH Map1682.48UniSTS
NCBI RH Map11791.2UniSTS
RH70483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371206,670,036 - 206,670,215UniSTSGRCh37
Build 361204,736,659 - 204,736,838RGDNCBI36
Celera1179,921,481 - 179,921,660RGD
Cytogenetic Map1q32.1UniSTS
HuRef1177,368,342 - 177,368,521UniSTS
GeneMap99-GB4 RH Map1682.48UniSTS
NCBI RH Map11791.2UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2351 2783 2245 4857 1484 1986 4 433 1775 275 2231 6602 6230 51 3656 591 1541 1462 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001193321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054339728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_922002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB016590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC244034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF241789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL706097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX027541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY660028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY660029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB243308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D63485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA990116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA999897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB152295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ667176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB750148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000578328   ⟹   ENSP00000473833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1206,470,495 - 206,496,274 (+)Ensembl
Ensembl Acc Id: ENST00000579827   ⟹   ENSP00000474422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1206,470,642 - 206,475,135 (+)Ensembl
Ensembl Acc Id: ENST00000581977   ⟹   ENSP00000464030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1206,470,476 - 206,496,889 (+)Ensembl
Ensembl Acc Id: ENST00000584998   ⟹   ENSP00000462396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1206,470,495 - 206,496,274 (+)Ensembl
Ensembl Acc Id: ENST00000605726   ⟹   ENSP00000474229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1206,472,854 - 206,476,260 (+)Ensembl
Ensembl Acc Id: ENST00000605818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1206,470,476 - 206,478,297 (+)Ensembl
RefSeq Acc Id: NM_001193321   ⟹   NP_001180250
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381206,470,476 - 206,496,889 (+)NCBI
GRCh371206,643,586 - 206,670,223 (+)ENTREZGENE
HuRef1177,341,834 - 177,368,529 (+)ENTREZGENE
CHM1_11207,915,782 - 207,942,429 (+)NCBI
T2T-CHM13v2.01205,734,655 - 205,761,052 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001193322   ⟹   NP_001180251
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381206,470,476 - 206,496,889 (+)NCBI
GRCh371206,643,586 - 206,670,223 (+)NCBI
HuRef1177,341,834 - 177,368,529 (+)ENTREZGENE
CHM1_11207,915,782 - 207,942,429 (+)NCBI
T2T-CHM13v2.01205,734,655 - 205,761,052 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014002   ⟹   NP_054721
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381206,470,476 - 206,496,889 (+)NCBI
GRCh371206,643,586 - 206,670,223 (+)NCBI
Build 361204,710,419 - 204,736,845 (+)NCBI Archive
HuRef1177,341,834 - 177,368,529 (+)ENTREZGENE
CHM1_11207,915,782 - 207,942,429 (+)NCBI
T2T-CHM13v2.01205,734,655 - 205,761,052 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005273356   ⟹   XP_005273413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381206,470,476 - 206,496,889 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047435018   ⟹   XP_047290974
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381206,470,476 - 206,491,725 (+)NCBI
RefSeq Acc Id: XM_047435020   ⟹   XP_047290976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381206,470,476 - 206,490,877 (+)NCBI
RefSeq Acc Id: XM_054339726   ⟹   XP_054195701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01205,734,655 - 205,761,052 (+)NCBI
RefSeq Acc Id: XM_054339727   ⟹   XP_054195702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01205,734,655 - 205,755,887 (+)NCBI
RefSeq Acc Id: XM_054339728   ⟹   XP_054195703
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01205,734,655 - 205,755,039 (+)NCBI
RefSeq Acc Id: NP_054721   ⟸   NM_014002
- Peptide Label: isoform 1
- UniProtKB: Q3KR43 (UniProtKB/Swiss-Prot),   Q3B754 (UniProtKB/Swiss-Prot),   D3DT78 (UniProtKB/Swiss-Prot),   Q5JTS6 (UniProtKB/Swiss-Prot),   Q14164 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001180251   ⟸   NM_001193322
- Peptide Label: isoform 2
- UniProtKB: A0A075B7B4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001180250   ⟸   NM_001193321
- Peptide Label: isoform 3
- UniProtKB: Q14164 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005273413   ⟸   XM_005273356
- Peptide Label: isoform X1
- UniProtKB: Q3KR43 (UniProtKB/Swiss-Prot),   Q3B754 (UniProtKB/Swiss-Prot),   D3DT78 (UniProtKB/Swiss-Prot),   Q5JTS6 (UniProtKB/Swiss-Prot),   Q14164 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000464030   ⟸   ENST00000581977
Ensembl Acc Id: ENSP00000462396   ⟸   ENST00000584998
Ensembl Acc Id: ENSP00000473833   ⟸   ENST00000578328
Ensembl Acc Id: ENSP00000474422   ⟸   ENST00000579827
Ensembl Acc Id: ENSP00000474229   ⟸   ENST00000605726
RefSeq Acc Id: XP_047290974   ⟸   XM_047435018
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047290976   ⟸   XM_047435020
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054195701   ⟸   XM_054339726
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054195702   ⟸   XM_054339727
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054195703   ⟸   XM_054339728
- Peptide Label: isoform X3
Protein Domains
Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14164-F1-model_v2 AlphaFold Q14164 1-716 view protein structure

Promoters
RGD ID:6785797
Promoter ID:HG_KWN:7065
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000088484,   OTTHUMT00000088485,   OTTHUMT00000088486,   OTTHUMT00000088487,   OTTHUMT00000088488,   UC001HEA.1,   UC009XBU.1,   UC009XBV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361204,709,696 - 204,710,567 (+)MPROMDB
RGD ID:6809580
Promoter ID:HG_ACW:5605
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:IKBKE.FAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361204,712,451 - 204,712,951 (+)MPROMDB
RGD ID:6785775
Promoter ID:HG_KWN:7066
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000088489
Position:
Human AssemblyChrPosition (strand)Source
Build 361204,719,374 - 204,719,874 (+)MPROMDB
RGD ID:6858786
Promoter ID:EPDNEW_H2558
Type:initiation region
Name:IKBKE_1
Description:inhibitor of nuclear factor kappa B kinase subunit epsilon
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2559  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381206,470,476 - 206,470,536EPDNEW
RGD ID:6858788
Promoter ID:EPDNEW_H2559
Type:initiation region
Name:IKBKE_2
Description:inhibitor of nuclear factor kappa B kinase subunit epsilon
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2558  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381206,471,159 - 206,471,219EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14552 AgrOrtholog
COSMIC IKBKE COSMIC
Ensembl Genes ENSG00000263528 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000578328 ENTREZGENE
  ENST00000578328.6 UniProtKB/TrEMBL
  ENST00000579827.6 UniProtKB/TrEMBL
  ENST00000581977 ENTREZGENE
  ENST00000581977.7 UniProtKB/Swiss-Prot
  ENST00000584998 ENTREZGENE
  ENST00000584998.5 UniProtKB/Swiss-Prot
  ENST00000605726.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1270.420 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000263528 GTEx
HGNC ID HGNC:14552 ENTREZGENE
Human Proteome Map IKBKE Human Proteome Map
InterPro IKK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TBK1_CCD1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TBK1_ULD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9641 UniProtKB/Swiss-Prot
NCBI Gene 9641 ENTREZGENE
OMIM 605048 OMIM
PANTHER IKB KINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  INHIBITOR OF NUCLEAR FACTOR KAPPA-B KINASE SUBUNIT EPSILON UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TBK1_CCD1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TBK1_ULD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134962294 PharmGKB
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A075B7B4 ENTREZGENE, UniProtKB/TrEMBL
  A0A075B7C7_HUMAN UniProtKB/TrEMBL
  A0A075B7D5_HUMAN UniProtKB/TrEMBL
  D3DT78 ENTREZGENE
  IKKE_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q3B754 ENTREZGENE
  Q3KR43 ENTREZGENE
  Q5JTS6 ENTREZGENE
UniProt Secondary D3DT78 UniProtKB/Swiss-Prot
  Q3B754 UniProtKB/Swiss-Prot
  Q3KR43 UniProtKB/Swiss-Prot
  Q5JTS6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-01-17 IKBKE  inhibitor of nuclear factor kappa B kinase subunit epsilon    inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon  Symbol and/or name change 5135510 APPROVED