AutismKB 2.0

Annotation Detail for C1orf52


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Basic Information Top
Gene Symbol:C1orf52 ( FLJ44982,RP11-234D19.1,gm117 )
Gene Full Name: chromosome 1 open reading frame 52
Band: 1p22.3
Quick LinksEntrez ID:148423; OMIM: NA; Uniprot ID:CA052_HUMAN; ENSEMBL ID: ENSG00000162642; HGNC ID: 24871
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
132Phosphotyrosine.
158Phosphoserine.
Location(AA) Modifications Resource
132Phosphotyrosine.Swiss-Prot 53.0
132PhosphotyrosinePhospho.ELM 6.0
158Phosphoserine.Swiss-Prot 53.0
158PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
17O-linkedHMM predict
20Phosphoserine(ATM)HMM predict
22Phosphoserine(CK2)HMM predict
23Phosphoserine(CK2)HMM predict
23Phosphoserine(ATM)HMM predict
34Phosphothreonine(PKC)HMM predict
35O-linkedHMM predict
113Phosphothreonine(PKC)HMM predict
158Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_198077
  • Location:chr1 85490243-85497912
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 85497870 85498272 402 159
CTCF CD4SISSRdata 85497870 85498272 402 159
GABP k562GSE8489 85498004 85499279 1275 729
GABP k562GSE8489 85499750 85500379 629 2152
hScc1 CdLSGSE12603 85497656 85498264 608 48
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 85478722 85478924 202 11421
CTCF CD4SISSRdata 85478722 85478924 202 11421
TFAP2C MCF7GSE21234 85481726 85482149 423 8306
hScc1 CdLSGSE12603 85478520 85479078 558 11445
p130 QuiescentGSE19898 85482599 85482819 220 7535
p130 SenescentGSE19898 85482638 85482844 206 7503
p130 shRbSenescentGSE19898 85482655 85482960 305 7436
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 85497284 85498333 1049 0
GABP k562GSE8489 85495099 85496068 969 0
GABP k562GSE8489 85496437 85497107 670 0
H3K4me3 colorectalcancer 85496437 85497318 881 0
H3ac HepG2E 85496437 85497141 704 0
Myc hESGSE17917 85497487 85497878 391 0
PHF8 293TGSE20725 85497325 85498381 1056 0
PHF8 HeLaGSE20725 85497231 85498319 1088 0
TAF k562GSE8489 85496437 85496764 327 0
TAFII hESGSE17917 85497625 85498180 555 0
hScc1 BcellGSE12603 85497656 85498152 496 0
hScc1 CdLSGSE12603 85493011 85493469 458 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