AutismKB 2.0

Annotation Detail for RABEP2


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Basic Information Top
Gene Symbol:RABEP2 ( FLJ23282,FRA )
Gene Full Name: rabaptin, RAB GTPase binding effector protein 2
Band: 16p11.2
Quick LinksEntrez ID:79874; OMIM: 611869; Uniprot ID:RABE2_HUMAN; ENSEMBL ID: ENSG00000177548; HGNC ID: 24817
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
27Phosphoserine(ATM)HMM predict
27Phosphoserine(CK1)HMM predict
66Phosphoserine(CK2)HMM predict
67Phosphothreonine(CK2)HMM predict
95Phosphoserine(CK1)HMM predict
204Phosphoserine(PKA)HMM predict
204Phosphoserine(IKK)HMM predict
204PhosphoserineHMM predict
214Phosphoserine(CK1)HMM predict
246O-linkedHMM predict
248Phosphoserine(IKK)HMM predict
248Phosphoserine(CK1)HMM predict
257Phosphoserine(CDC2)HMM predict
265Phosphoserine(IKK)HMM predict
268O-linkedHMM predict
278Phosphotyrosine(SRC)HMM predict
278Phosphotyrosine(Syk)HMM predict
351O-linkedHMM predict
353Phosphoserine(ATM)HMM predict
409Phosphoserine(IKK)HMM predict
413Phosphoserine(ATM)HMM predict
413Phosphoserine(IKK)HMM predict
422S-palmitoylHMM predict
423S-palmitoylHMM predict
521Phosphoserine(CK1)HMM predict
532Phosphoserine(PKG)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_024816
  • Location:chr16 28823243-28844032
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 28844442 28844981 539 679
NRSF pAbJurkat 28843626 28844484 858 23
PHF8 HeLaGSE20725 28843452 28844913 1461 150
PHF8 Hs68plusFBSGSE20725 28843598 28844975 1377 254
Rb GrowingGSE19898 28844504 28844693 189 566
TAF HelaGSE8489 28844366 28844981 615 641
p130 shRbQuiescentGSE19898 28843971 28844750 779 328
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 28843655 28844043 388 0
Fos K562GSE19551 28829124 28829694 570 0
Oct1 HelaGSE14283 28842590 28842620 30 0
TFAP2C MCF7GSE21234 28842985 28843872 887 0
hScc1 BcellGSE12603 28827152 28827796 644 0
hScc1 BcellGSE12603 28843412 28843903 491 0
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
9795 mRNA ATP2A1 chr16 28797309 28823331 88 mRNA RABEP2 chr16 28823243 28844033Sense/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