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
Description: Exhibits several functions, including K48-linked polyubiquitin modification-dependent protein binding activity; NF-kappaB-inducing kinase activity; and ubiquitin protein ligase binding activity. Involved in several processes, including intrinsic apoptotic signaling pathway in response to DNA damage; positive regulation of I-kappaB kinase/NF-kappaB signaling; and response to interferon-beta. Localizes to PML body and mitochondrial membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Also 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 Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1206,470,476 - 206,496,889 (+)EnsemblGRCh38hg38GRCh38
GRCh381206,470,243 - 206,496,890 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371206,643,819 - 206,670,222 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361204,710,419 - 204,736,845 (+)NCBINCBI36hg18NCBI36
Build 341203,032,190 - 203,058,617NCBI
Celera1179,895,028 - 179,921,668 (+)NCBI
Cytogenetic Map1q32.1NCBI
HuRef1177,341,834 - 177,368,529 (+)NCBIHuRef
CHM1_11207,915,782 - 207,942,429 (+)NCBICHM1_1
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
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IDA,IEA)
cytosol  (TAS)
mitochondrial membrane  (IMP)
nucleoplasm  (TAS)
nucleus  (IDA)
PML body  (IDA)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

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: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: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:22065572   PMID:22072751   PMID:22079989   PMID:22266464   PMID:22312431   PMID:22330135   PMID:22531926   PMID:22532683   PMID:22552702   PMID:22787218   PMID:22851696  
PMID:22939624   PMID:22942254   PMID:23007157   PMID:23066157   PMID:23096996   PMID:23157677   PMID:23308279   PMID:23365428   PMID:23453969   PMID:23478265   PMID:23535865   PMID:23691078  
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: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:32298923   PMID:32324216   PMID:32656094   PMID:32814053  


Genomics

Comparative Map Data
IKBKE
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1206,470,476 - 206,496,889 (+)EnsemblGRCh38hg38GRCh38
GRCh381206,470,243 - 206,496,890 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371206,643,819 - 206,670,222 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361204,710,419 - 204,736,845 (+)NCBINCBI36hg18NCBI36
Build 341203,032,190 - 203,058,617NCBI
Celera1179,895,028 - 179,921,668 (+)NCBI
Cytogenetic Map1q32.1NCBI
HuRef1177,341,834 - 177,368,529 (+)NCBIHuRef
CHM1_11207,915,782 - 207,942,429 (+)NCBICHM1_1
Ikbke
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391131,182,337 - 131,207,339 (-)NCBIGRCm39mm39
GRCm39 Ensembl1131,182,080 - 131,207,344 (-)Ensembl
GRCm381131,254,600 - 131,279,601 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1131,254,343 - 131,279,606 (-)EnsemblGRCm38mm10GRCm38
MGSCv371133,151,179 - 133,176,140 (-)NCBIGRCm37mm9NCBIm37
MGSCv361133,082,148 - 133,107,109 (-)NCBImm8
Celera1133,876,834 - 133,902,322 (-)NCBICelera
Cytogenetic Map1E4NCBI
Ikbke
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21342,712,154 - 42,738,470 (-)NCBI
Rnor_6.0 Ensembl1348,031,410 - 48,056,394 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01348,031,325 - 48,056,394 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01353,107,093 - 53,132,162 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41344,197,625 - 44,222,609 (-)NCBIRGSC3.4rn4RGSC3.4
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
PanPan1.11186,351,807 - 186,377,970 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1186,351,807 - 186,377,971 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01182,070,565 - 182,096,797 (+)NCBIMhudiblu_PPA_v0panPan3
IKBKE
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl382,747,297 - 2,772,587 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1382,747,303 - 2,772,574 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Ikbke
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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 - 67,147,992 (+)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 - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12522,865,720 - 22,892,346 (-)NCBI
ChlSab1.1 Ensembl2522,865,734 - 22,891,920 (-)Ensembl
Ikbke
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248074,913,734 - 4,934,096 (-)NCBI

Position Markers
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

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.


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 250 462 261 84 1310 19 839 18 58 46 177 449 77 19 378
Low 2081 2217 1184 311 465 218 2751 1199 3474 135 1073 979 93 1185 1682 2
Below cutoff 20 305 39 38 38 723 966 124 1 8 30 723 2

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
  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
  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

Reference Sequences
RefSeq Acc Id: ENST00000578328   ⟹   ENSP00000473833
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1206,470,495 - 206,496,274 (+)Ensembl
RefSeq Acc Id: ENST00000579827   ⟹   ENSP00000474422
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1206,470,642 - 206,475,135 (+)Ensembl
RefSeq Acc Id: ENST00000581977   ⟹   ENSP00000464030
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1206,470,476 - 206,496,889 (+)Ensembl
RefSeq Acc Id: ENST00000584998   ⟹   ENSP00000462396
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1206,470,495 - 206,496,274 (+)Ensembl
RefSeq Acc Id: ENST00000605726   ⟹   ENSP00000474229
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1206,472,854 - 206,476,260 (+)Ensembl
RefSeq Acc Id: ENST00000605818
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 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
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
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
Sequence:
RefSeq Acc Id: XM_005273356   ⟹   XP_005273413
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381206,470,243 - 206,496,890 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017002868   ⟹   XP_016858357
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381206,470,243 - 206,496,890 (+)NCBI
Sequence:
RefSeq Acc Id: XR_922002
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381206,470,469 - 206,496,890 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_054721   ⟸   NM_014002
- Peptide Label: isoform 1
- UniProtKB: Q14164 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001180251   ⟸   NM_001193322
- Peptide Label: isoform 2
- UniProtKB: Q14164 (UniProtKB/Swiss-Prot),   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: Q14164 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016858357   ⟸   XM_017002868
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000464030   ⟸   ENST00000581977
RefSeq Acc Id: ENSP00000462396   ⟸   ENST00000584998
RefSeq Acc Id: ENSP00000473833   ⟸   ENST00000578328
RefSeq Acc Id: ENSP00000474422   ⟸   ENST00000579827
RefSeq Acc Id: ENSP00000474229   ⟸   ENST00000605726
Protein Domains
Protein kinase

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

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] Chr1:206476673 [GRCh38]
Chr1:206650016 [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
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 Autistic disorder of childhood onset [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.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
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic

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 Protein ENSP00000462396 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000464030 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000473833 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000474229 UniProtKB/TrEMBL
  ENSP00000474422 UniProtKB/TrEMBL
Ensembl Transcript ENST00000578328 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000579827 UniProtKB/TrEMBL
  ENST00000581977 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000584998 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000605726 UniProtKB/TrEMBL
GTEx ENSG00000263528 GTEx
HGNC ID HGNC:14552 ENTREZGENE
Human Proteome Map IKBKE Human Proteome Map
InterPro 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
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
  IKKE_HUMAN UniProtKB/Swiss-Prot, 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