AutismKB 2.0

Annotation Detail for KBTBD12


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Basic Information Top
Gene Symbol:KBTBD12 ( DKFZp779E2271,FLJ46299,KLHDC6 )
Gene Full Name: kelch repeat and BTB (POZ) domain containing 12
Band: 3q21.3
Quick LinksEntrez ID:166348; OMIM: NA; Uniprot ID:KBTBC_HUMAN; ENSEMBL ID: ENSG00000187715; HGNC ID: 25731
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_207335
  • Location:chr3 129124945-129189194
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 129116926 129117217 291 7874
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 129189735 129190247 512 797
CTCF G2GSE9613 129191437 129192289 852 2669
CTCF G2GSE9613 129201250 129201620 370 12241
CTCF G2GSE9613 129207448 129208449 1001 18754
ER E2-MCF7GSE14664 129196769 129196816 47 7598
FoxA1 MCF7MACSdata 129199454 129199755 301 10410
Nanog hESGSE18292 129193820 129194123 303 4777
hScc1 G2GSE9613 129191656 129192289 633 2778
hScc1 G2GSE9613 129207480 129208346 866 18719
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 129172614 129172803 189 0
CTCF CD4SISSRdata 129172614 129172803 189 0
CTCF G2GSE9613 129159490 129159670 180 0
CTCF G2GSE9613 129172503 129173097 594 0
CTCF G2GSE9613 129186280 129187332 1052 0
FOXA1 MCF7GSE15244 129131515 129131847 332 0
FOXA1 MCF7GSE15244 129172503 129172944 441 0
FOXA1 MCF7GSE15244 129188333 129188708 375 0
FoxA1 MCF7MACSdata 129131442 129131665 223 0
hScc1 BcellGSE12603 129172503 129173231 728 0
hScc1 CdLSGSE12603 129161203 129161707 504 0
hScc1 CdLSGSE12603 129172503 129173060 557 0
hScc1 G2GSE9613 129172503 129173097 594 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