AutismKB 2.0

Annotation Detail for RPE65


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Basic Information Top
Gene Symbol:RPE65 ( LCA2,RP20,mRPE65,rd12,sRPE65 )
Gene Full Name: retinal pigment epithelium-specific protein 65kDa
Band: 1p31.3
Quick LinksEntrez ID:6121; OMIM: 180069; Uniprot ID:RPE65_HUMAN; ENSEMBL ID: ENSG00000116745; HGNC ID: 10294
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylserine (By similarity).
101Phosphothreonine.
105Phosphothreonine.
113N6-acetyllysine.
117Phosphoserine.
Location(AA) Modifications Resource
2N-acetylserine (By similarity).Swiss-Prot 53.0
231S-palmitoyl cysteine; in membrane form(By similarity).Swiss-Prot 53.0
329S-palmitoyl cysteine; in membrane form(By similarity).Swiss-Prot 53.0
330S-palmitoyl cysteine; in membrane form(By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
23Phosphoserine(CK1)HMM predict
24Phosphoserine(CDC2)HMM predict
94Phosphothreonine(PKC)HMM predict
144Phosphotyrosine(Syk)HMM predict
144Phosphotyrosine(Jak)HMM predict
144Phosphotyrosine(EGFR)HMM predict
221Phosphoserine(CK2)HMM predict
221Phosphoserine(CK1)HMM predict
231S-palmitoylHMM predict
268C-linkedHMM predict
282N-linkedHMM predict
329S-palmitoylHMM predict
330S-palmitoylHMM predict
388N-linkedHMM predict
466Phosphotyrosine(EGFR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000329
  • Location:chr1 68667094-68688229
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
P300 T30-glioblastomaGSE21026 68647538 68648345 807 19153
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 68686732 68686983 251 0
ER E2-MCF7GSE14664 68673689 68673721 32 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