AutismKB 2.0

Annotation Detail for ZBTB48


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Basic Information Top
Gene Symbol:ZBTB48 ( HKR3,ZNF855,pp9964 )
Gene Full Name: zinc finger and BTB domain containing 48
Band: 1p36.31
Quick LinksEntrez ID:3104; OMIM: 165270; Uniprot ID:ZBT48_HUMAN; ENSEMBL ID: ENSG00000204859; HGNC ID: 4930
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
135Phosphoserine(ATM)HMM predict
171Phosphoserine(CDC2)HMM predict
171Phosphoserine(CDK)HMM predict
179Phosphoserine(IKK)HMM predict
179Phosphoserine(CDC2)HMM predict
245Phosphotyrosine(Jak)HMM predict
245Phosphotyrosine(INSR)HMM predict
245SulfotyrosineHMM predict
254Phosphothreonine(PKC)HMM predict
302Phosphoserine(PKA)HMM predict
305Phosphotyrosine(Syk)HMM predict
305Phosphotyrosine(Jak)HMM predict
314Phosphothreonine(PKC)HMM predict
344N-linkedHMM predict
498S-palmitoylHMM predict
512N-linkedHMM predict
653Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005341
  • Location:chr1 6562697-6571925
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 6562168 6563053 885 87
PHF8 HeLaGSE20725 6561963 6563385 1422 24
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 6563437 6563736 299 0
CTCF G2GSE9613 6570042 6570309 267 0
FoxA1 MCF7MACSdata 6565100 6565234 134 0
H3ac HepG2E 6562980 6563328 348 0
H3ac HepG2E 6563578 6563968 390 0
hScc1 BcellGSE12603 6570042 6570309 267 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