AutismKB 2.0

Annotation Detail for RRH


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Basic Information Top
Gene Symbol:RRH ( - )
Gene Full Name: retinal pigment epithelium-derived rhodopsin homolog
Band: 4q25
Quick LinksEntrez ID:10692; OMIM: 605224; Uniprot ID:OPSX_HUMAN; ENSEMBL ID: ENSG00000180245; HGNC ID: 10450
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
8N-linked (GlcNAc...) (Potential).
284N6-(retinylidene)lysine.
Location(AA) Modifications Resource
8N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
8N-linkedHMM predict
12Phosphoserine(CK1)HMM predict
12Phosphoserine(CK2)HMM predict
14N-linkedHMM predict
21Phosphoserine(ATM)HMM predict
58Phosphothreonine(MAPK)HMM predict
124Phosphotyrosine(Jak)HMM predict
137Phosphothreonine(PKA)HMM predict
137Phosphothreonine(PKC)HMM predict
171O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006583
  • Location:chr4 110968598-110985307
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 110967400 110967756 356 1021
CTCF CD4SISSRdata 110967400 110967756 356 1021
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 110986980 110987163 183 1764
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