AutismKB 2.0

Annotation Detail for C16orf53


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Basic Information Top
Gene Symbol:C16orf53 ( FLJ22459,GAS,MGC4606,PA1 )
Gene Full Name: chromosome 16 open reading frame 53
Band: 16p11.2
Quick LinksEntrez ID:79447; OMIM: 612033; Uniprot ID:PA1_HUMAN; ENSEMBL ID: ENSG00000185928; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
203N6-acetyllysine.
237Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_024516
  • Location:chr16 29735332-29738934
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 29735612 29735996 384 0
CTCF G2GSE9613 29738149 29738600 451 0
ER E2-MCF7GSE14664 29735922 29735956 34 0
H3K4me2 HCT116GSE10453 29735902 29736251 349 0
H3ac HepG2E 29735465 29736251 786 0
H3ac HepG2E 29736889 29737349 460 0
Rb QuiescentGSE19898 29735591 29735846 255 0
Rb QuiescentGSE19898 29735868 29736089 221 0
TFAP2C MCF7GSE21234 29734667 29736301 1634 0
hScc1 BcellGSE12603 29735867 29736251 384 0
p130 SenescentGSE19898 29735368 29736006 638 0
p130 shRbQuiescentGSE19898 29735465 29735851 386 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-452 hsa-mir-452 X 21098571
hsa-miR-452* hsa-mir-452 X 21098571
No data
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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