AutismKB 2.0

Annotation Detail for OPN1SW


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Basic Information Top
Gene Symbol:OPN1SW ( BCP,BOP,CBT )
Gene Full Name: opsin 1 (cone pigments), short-wave-sensitive
Band: 7q32.1
Quick LinksEntrez ID:611; OMIM: 613522; Uniprot ID:OPSB_HUMAN; ENSEMBL ID: ENSG00000128617; HGNC ID: 1012
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
14N-linked (GlcNAc...) (Probable).
293N6-(retinylidene)lysine.
Location(AA) Modifications Resource
14N-linked (GlcNAc...) (Probable).Swiss-Prot 53.0
Location(AA) Modification Resource
5Phosphoserine(PKG)HMM predict
14N-linkedHMM predict
240Phosphothreonine(PKC)HMM predict
338O-linkedHMM predict
339O-linkedHMM predict
341O-linkedHMM predict
341O-linkedHMM predict
341O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001708
  • Location:chr7 128199782-128203086
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 128206135 128206570 435 3266
Fos K562GSE19551 128204716 128205582 866 2063
NRSF JurkatGSE13047 128206196 128206723 527 3373
NRSF-mono JurkatQuESTdata 128206195 128206645 450 3334
Pol3 GM12878GSE19551 128210697 128211073 376 7799
p130 QuiescentGSE19898 128209226 128209418 192 6236
No data
No data
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
24620 EST chr7 128006600 128007262 64 mRNA OPN1SW chr7 128006497 128009802Sense/Antisense (SA) pairs

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