AutismKB 2.0

Annotation Detail for KBTBD4


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Basic Information Top
Gene Symbol:KBTBD4 ( BKLHD4,FLJ10450,HSPC252 )
Gene Full Name: kelch repeat and BTB (POZ) domain containing 4
Band: 11p11.2
Quick LinksEntrez ID:55709; OMIM: NA; Uniprot ID:KBTB4_HUMAN; ENSEMBL ID: ENSG00000123444; HGNC ID: 23761
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
15SulfotyrosineHMM predict
18N-linkedHMM predict
119Phosphotyrosine(Syk)HMM predict
158Phosphoserine(CK1)HMM predict
202Phosphoserine(ATM)HMM predict
204N-linkedHMM predict
230Phosphoserine(CK1)HMM predict
252Phosphoserine(PKA)HMM predict
252Phosphoserine(IKK)HMM predict
264Phosphoserine(CK1)HMM predict
266Phosphoserine(CK1)HMM predict
272Phosphoserine(IKK)HMM predict
288Phosphotyrosine(INSR)HMM predict
303N-linkedHMM predict
473N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_016506
  • Location:chr11 47550325-47557077
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Breast-CancerGSE22609 47549380 47549774 394 749
Myc hESGSE17917 47543559 47543967 408 6563
PHF8 HeLaGSE20725 47542897 47544762 1865 6496
PHF8 Hs68minusFBSGSE20725 47543262 47544471 1209 6459
PHF8 Hs68plusFBSGSE20725 47543231 47544507 1276 6457
Rb SenescentGSE19898 47543209 47543697 488 6873
p130 QuiescentGSE19898 47543273 47543698 425 6840
p130 SenescentGSE19898 47543408 47543693 285 6775
p130 shRbQuiescentGSE19898 47543066 47543562 496 7012
p130 shRbSenescentGSE19898 47543319 47543737 418 6798
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 47555826 47557053 1227 0
LIN9 SGSE7516 47556653 47557304 651 0
Oct1 HelaGSE14283 47556226 47556297 71 0
RARA MCF7GSE15244 47555322 47556354 1032 0
Rb GrowingGSE19898 47556696 47556939 243 0
Rb QuiescentGSE19898 47556665 47557298 633 0
VDR GM10855-UnstimGSE22484 47555894 47558038 2144 0
VDR GM10861-UnstimGSE22484 47555403 47557929 2526 0
VDR GM10861-stimGSE22484 47555418 47558358 2940 0
p130 QuiescentGSE19898 47556625 47557309 684 0
p130 SenescentGSE19898 47556594 47557232 638 0
p130 shRbQuiescentGSE19898 47556346 47557452 1106 0
p130 shRbSenescentGSE19898 47556371 47557693 1322 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
4402 mRNA PTPMT1 chr11 47544025 47551588 1263 mRNA KBTBD4 chr11 47550325 47557078Sense/Antisense (SA) pairs

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


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