AutismKB 2.0

Annotation Detail for C16orf54


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:C16orf54 ( FLJ35681,MGC129957,MGC129958 )
Gene Full Name: chromosome 16 open reading frame 54
Band: 16p11.2
Quick LinksEntrez ID:283897; OMIM: NA; Uniprot ID:CP054_HUMAN; ENSEMBL ID: ENSG00000185905; HGNC ID: 26649
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
112Phosphothreonine (By similarity).
116Phosphothreonine (By similarity).
194Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
71Phosphothreonine(PKC)HMM predict
92Phosphoserine(CK1)HMM predict
96Phosphotyrosine(SRC)HMM predict
128O-linkedHMM predict
128O-linkedHMM predict
132Phosphoserine(IKK)HMM predict
135O-linkedHMM predict
168Phosphoserine(CAMK2)HMM predict
184Phosphoserine(CDC2)HMM predict
189MethylarginineHMM predict
194Phosphoserine(ATM)HMM predict
194Phosphoserine(MAPK)HMM predict
194Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
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