AutismKB 2.0

Annotation Detail for CCDC125


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Basic Information Top
Gene Symbol:CCDC125 ( KENAE )
Gene Full Name: coiled-coil domain containing 125
Band: 5q13.2
Quick LinksEntrez ID:202243; OMIM: NA; Uniprot ID:CC125_HUMAN; ENSEMBL ID: ENSG00000183323; HGNC ID: 28924
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
7Phosphoserine(PKG)HMM predict
8Phosphoserine(CK2)HMM predict
9Phosphoserine(PKB)HMM predict
9Phosphoserine(IKK)HMM predict
9Phosphoserine(CK1)HMM predict
52Phosphoserine(PKG)HMM predict
56N-linkedHMM predict
81Phosphoserine(ATM)HMM predict
99Phosphoserine(PKG)HMM predict
100Phosphoserine(PKB)HMM predict
100Phosphoserine(IKK)HMM predict
100Phosphoserine(PKG)HMM predict
106Phosphoserine(CK1)HMM predict
109Phosphoserine(CK1)HMM predict
118N-linkedHMM predict
134Phosphoserine(ATM)HMM predict
370Phosphoserine(CDC2)HMM predict
370Phosphoserine(CDK)HMM predict
399Phosphoserine(IKK)HMM predict
462Phosphoserine(PKA)HMM predict
498Phosphothreonine(PKC)HMM predict
498Phosphothreonine(CDK)HMM predict
504Phosphoserine(CK1)HMM predict
504Phosphoserine(IKK)HMM predict
504Phosphoserine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_176816
  • Location:chr5 68612275-68652165
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 68666422 68666614 192 14353
CTCF CD4SISSRdata 68666422 68666614 192 14353
CTCF HelaGSE12889 68666433 68666653 220 14378
CTCF JurkatGSE12889 68666432 68666590 158 14346
CTCF G2GSE9613 68655181 68655359 178 3105
CTCF G2GSE9613 68664218 68664642 424 12265
CTCF G2GSE9613 68665471 68665843 372 13492
CTCF G2GSE9613 68666443 68666663 220 14388
ER MCF7GSE19013 68661445 68662027 582 9571
ER MCF7GSE19013 68664206 68664952 746 12414
FOXA1 MCF7GSE15244 68661528 68661870 342 9534
FOXA1 MCF7GSE15244 68664273 68664642 369 12292
PHF8 293TGSE20725 68664017 68664699 682 12193
PHF8 HeLaGSE20725 68663916 68664889 973 12237
PHF8 Hs68minusFBSGSE20725 68664103 68664813 710 12293
Rb SenescentGSE19898 68666413 68666599 186 14341
TFAP2C MCF7GSE21234 68661442 68662193 751 9652
TFAP2C MCF7GSE21234 68664240 68664819 579 12364
USF1 HepG2E 68663147 68664642 1495 11729
USF1 HepG2E 68665471 68666165 694 13653
USF2 HepG2E 68663586 68664642 1056 11949
hScc1 BcellGSE12603 68655181 68655359 178 3105
hScc1 BcellGSE12603 68663655 68664614 959 11969
hScc1 BcellGSE12603 68665471 68665843 372 13492
hScc1 CdLSGSE12603 68666443 68666663 220 14388
hScc1 G2GSE9613 68666443 68666663 220 14388
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Gata2 K562GSE18868 68632061 68632475 414 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