AutismKB 2.0

Annotation Detail for CCDC53


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Basic Information Top
Gene Symbol:CCDC53 ( CGI-116 )
Gene Full Name: coiled-coil domain containing 53
Band: 12q23.2
Quick LinksEntrez ID:51019; OMIM: NA; Uniprot ID:CCD53_HUMAN; ENSEMBL ID: ENSG00000120860; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
74Phosphoserine(PKG)HMM predict
90N-linkedHMM predict
92O-linkedHMM predict
96N-linkedHMM predict
104Phosphoserine(CK2)HMM predict
110N-linkedHMM predict
123Phosphoserine(CK2)HMM predict
185Phosphoserine(CK2)HMM predict
186Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_016053
  • Location:chr12 100930851-100979976
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 100979350 100980606 1256 2
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 100913151 100913681 530 17436
GATA3 MCF7GSE15244 100928614 100928823 209 2133
TFAP2C MCF7GSE21234 100911647 100911969 322 19044
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 100965153 100965190 37 0
ER Fulvestrant-MCF7GSE14664 100964615 100964656 41 0
ER Fulvestrant-MCF7GSE14664 100964701 100964735 34 0
ER Fulvestrant-MCF7GSE14664 100965151 100965186 35 0
FOXA1 DLD1GSE12801 100977258 100977727 469 0
FOXA1 MCF7GSE15244 100969004 100969541 537 0
FOXA1 MCF7GSE15244 100978904 100979599 695 0
FoxA1 MCF7MACSdata 100969286 100969649 363 0
GATA3 MCF7GSE15244 100939462 100939897 435 0
H3K4me2 HCT116GSE10453 100978904 100979340 436 0
H3K4me3 colorectalcancer 100978904 100979624 720 0
H3ac HepG2E 100978904 100979761 857 0
Oct1 H2O2-HelaGSE14283 100957179 100957207 28 0
Oct1 HelaGSE14283 100957174 100957216 42 0
Oct1 HelaGSE14283 100957267 100957306 39 0
Oct1 HelaGSE14283 100964605 100964660 55 0
Oct1 HelaGSE14283 100965149 100965239 90 0
Oct1 HelaGSE14283 100972940 100972988 48 0
Oct1 HelaGSE14283 100973569 100973600 31 0
PHF8 293TGSE20725 100979340 100980352 1012 0
RARA MCF7GSE15244 100939422 100939824 402 0
RARA MCF7GSE15244 100978904 100979413 509 0
RARG MCF7GSE15244 100978904 100979340 436 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


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