AutismKB 2.0

Annotation Detail for RAPSN


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Basic Information Top
Gene Symbol:RAPSN ( CMS1D,CMS1E,MGC3597,RNF205 )
Gene Full Name: receptor-associated protein of the synapse
Band: 11p11.2
Quick LinksEntrez ID:5913; OMIM: 601592; Uniprot ID:RAPSN_HUMAN; ENSEMBL ID: ENSG00000165917; HGNC ID: 9863
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
196Phosphotyrosine (Potential).
405Phosphoserine (Potential).
Location(AA) Modifications Resource
2N-myristoyl glycine (By similarity).Swiss-Prot 53.0
196Phosphotyrosine (Potential).Swiss-Prot 53.0
405Phosphoserine (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
20N-linkedHMM predict
179Phosphotyrosine(Jak)HMM predict
332Phosphoserine(CK1)HMM predict
394N-linkedHMM predict
405SerineHMM predict
406Phosphoserine(PKG)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005055
  • Location:chr11 47415890-47427305
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 47432356 47432615 259 5180
CTCF CD4SISSRdata 47432356 47432615 259 5180
CTCF HelaGSE12889 47432339 47432621 282 5175
CTCF JurkatGSE12889 47432285 47432609 324 5142
Fos K562GSE19551 47431386 47431980 594 4378
Myc K562GSE19551 47432334 47432741 407 5232
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 47413585 47413622 37 2287
Oct1 HelaGSE14283 47415474 47415503 29 402
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 47415617 47416763 1146 0
RARG MCF7GSE15244 47421266 47421614 348 0
TFAP2C MCF7GSE21234 47419369 47420140 771 0
hScc1 BcellGSE12603 47426119 47427054 935 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