AutismKB 2.0

Annotation Detail for IKBKAP


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Basic Information Top
Gene Symbol:IKBKAP ( DKFZp781H1425,DYS,ELP1,FD,FLJ12497,IKAP,IKI3,TOT1 )
Gene Full Name: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
Band: 9q31
Quick LinksEntrez ID:8518; OMIM: 603722; Uniprot ID:ELP1_HUMAN; ENSEMBL ID: ENSG00000070061; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
471Phosphoserine.
867Phosphoserine.
1171Phosphoserine.
1174Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
110O-linkedHMM predict
168Phosphothreonine(PKA)HMM predict
337Phosphoserine(IKK)HMM predict
355Phosphothreonine(CDC2)HMM predict
384N-linkedHMM predict
390N-linkedHMM predict
536Phosphoserine(CK2)HMM predict
561S-palmitoylHMM predict
562S-palmitoylHMM predict
568Phosphoserine(IKK)HMM predict
640N-linkedHMM predict
683O-linkedHMM predict
803O-linkedHMM predict
804Phosphoserine(Jak)HMM predict
847Phosphothreonine(PKC)HMM predict
848Phosphothreonine(PKA)HMM predict
848Phosphothreonine(MAPK)HMM predict
917Phosphotyrosine(Syk)HMM predict
931Phosphotyrosine(EGFR)HMM predict
979Phosphoserine(MAPK)HMM predict
985Phosphotyrosine(Syk)HMM predict
985Phosphotyrosine(SRC)HMM predict
1002Phosphotyrosine(SRC)HMM predict
1002Phosphotyrosine(Syk)HMM predict
1039N-linkedHMM predict
1076Phosphotyrosine(EGFR)HMM predict
1167Phosphoserine(CK1)HMM predict
1171Phosphoserine(CK1)HMM predict
1206Phosphoserine(PKG)HMM predict
1290N-linkedHMM predict
1294N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003640
  • Location:chr9 110669621-110736216
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 110703084 110703204 120 0
CTCF CD4SISSRdata 110703084 110703204 120 0
ER Fulvestrant-MCF7GSE14664 110677193 110677227 34 0
FOXA1 MCF7GSE15244 110705699 110706283 584 0
H3K4me2 HCT116GSE10453 110734742 110735632 890 0
H3K4me3 colorectalcancer 110734742 110735596 854 0
H3ac HepG2E 110734742 110735900 1158 0
Myc K562GSE19551 110688014 110688391 377 0
Oct1 H2O2-HelaGSE14283 110682796 110682828 32 0
Oct1 HelaGSE14283 110676177 110676219 42 0
Oct1 HelaGSE14283 110682796 110682827 31 0
Oct1 HelaGSE14283 110702378 110702449 71 0
PHF8 HeLaGSE20725 110735282 110736871 1589 0
SRF HelaGSE8489 110703092 110703772 680 0
TAF k562GSE8489 110703092 110703808 716 0
TAF k562GSE8489 110735067 110735750 683 0
USF2 HepG2E 110697348 110697754 406 0
hScc1 BcellGSE12603 110735458 110736153 695 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018