AutismKB 2.0

Annotation Detail for KLHDC7B


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:KLHDC7B ( MGC16635 )
Gene Full Name: kelch domain containing 7B
Band: 22q13.33
Quick LinksEntrez ID:113730; OMIM: NA; Uniprot ID:KLD7B_HUMAN; ENSEMBL ID: ENSG00000130487; HGNC ID: 25145
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
21O-linkedHMM predict
25Phosphoserine(PKG)HMM predict
25Phosphoserine(ATM)HMM predict
65Phosphoserine(CDC2)HMM predict
103Phosphoserine(PKA)HMM predict
104O-linkedHMM predict
144Phosphotyrosine(INSR)HMM predict
144Phosphotyrosine(Syk)HMM predict
165Phosphoserine(PKG)HMM predict
205MethylarginineHMM predict
216Phosphoserine(IKK)HMM predict
216O-linkedHMM predict
424Phosphoserine(PKA)HMM predict
424Phosphoserine(IKK)HMM predict
452O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_138433
  • Location:chr22 49333327-49335406
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 49329586 49329862 276 3604
CTCF CD4SISSRdata 49329586 49329862 276 3604
NFkBII GM12878GSE19485 49324212 49328540 4328 6952
NFkBII GM15510GSE19485 49324213 49328398 4185 7022
TFAP2C MCF7GSE21234 49331473 49331858 385 1662
hScc1 BcellGSE12603 49329447 49329990 543 3609
hScc1 BcellGSE12603 49330934 49332929 1995 1396
hScc1 CdLSGSE12603 49329447 49330034 587 3587
p130 shRbQuiescentGSE19898 49331003 49331219 216 2217
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 49333630 49335412 1782 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved