AutismKB 2.0

Annotation Detail for CCDC134


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Basic Information Top
Gene Symbol:CCDC134 ( FLJ22349,MGC21013,dJ821D11.3 )
Gene Full Name: coiled-coil domain containing 134
Band: 22q13.2
Quick LinksEntrez ID:79879; OMIM: NA; Uniprot ID:CC134_HUMAN; ENSEMBL ID: ENSG00000100147; HGNC ID: 26185
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
35Phosphotyrosine(Syk)HMM predict
148N-linkedHMM predict
154N-linkedHMM predict
159Phosphoserine(MAPK)HMM predict
223Phosphoserine(PKA)HMM predict
225Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_024821
  • Location:chr22 40526623-40552248
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 HeLaGSE20725 40525627 40527334 1707 143
Pol2 GM12878GSE19551 40525409 40527102 1693 368
hScc1 BcellGSE12603 40525827 40526842 1015 289
p130 shRbQuiescentGSE19898 40525771 40526594 823 441
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 40555122 40555487 365 3056
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 40548742 40549090 348 0
CTCF CD4SISSRdata 40548742 40549090 348 0
H3K4me2 HCT116GSE10453 40527016 40527663 647 0
H3ac HepG2E 40526906 40527663 757 0
Nanog hESGSE18292 40548791 40549024 233 0
TAFII hESGSE17917 40526218 40527058 840 0
hScc1 CdLSGSE12603 40548606 40548986 380 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