AutismKB 2.0

Annotation Detail for C1orf54


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Basic Information Top
Gene Symbol:C1orf54 ( FLJ23221 )
Gene Full Name: chromosome 1 open reading frame 54
Band: 1q21.2
Quick LinksEntrez ID:79630; OMIM: NA; Uniprot ID:CA054_HUMAN; ENSEMBL ID: ENSG00000118292; HGNC ID: 26258
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
19Phosphotyrosine(Syk)HMM predict
30Phosphotyrosine(SRC)HMM predict
30Phosphotyrosine(Syk)HMM predict
30Phosphotyrosine(EGFR)HMM predict
31Phosphotyrosine(Syk)HMM predict
40O-linkedHMM predict
54SulfotyrosineHMM predict
92Phosphothreonine(PKC)HMM predict
97O-linkedHMM predict
113Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_024579
  • Location:chr1 148511821-148519948
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Rb GrowingGSE19898 148511579 148511852 273 106
TAF k562GSE8489 148511188 148511572 384 442
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 148520331 148520575 244 505
RARA MCF7GSE15244 148520514 148521009 495 813
hScc1 BcellGSE12603 148520236 148521426 1190 883
hScc1 CdLSGSE12603 148520147 148520682 535 466
No data
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