AutismKB 2.0

Annotation Detail for RABEP1


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Basic Information Top
Gene Symbol:RABEP1 ( RAB5EP,RABPT5 )
Gene Full Name: rabaptin, RAB GTPase binding effector protein 1
Band: 17p13.2
Quick LinksEntrez ID:9135; OMIM: 603616; Uniprot ID:RABE1_HUMAN; ENSEMBL ID: ENSG00000029725; HGNC ID: 17677
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
282N6-acetyllysine.
407Phosphoserine.
408Phosphothreonine.
410Phosphoserine.
Location(AA) Modifications Resource
407Phosphoserine.Swiss-Prot 53.0
410Phosphoserine (By similarity).Swiss-Prot 53.0
410PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
8Phosphoserine(IKK)HMM predict
124Phosphothreonine(PKC)HMM predict
162Phosphoserine(PKG)HMM predict
162Phosphoserine(CAMK2)HMM predict
203Phosphothreonine(CK2)HMM predict
243Phosphothreonine(PKC)HMM predict
362Phosphoserine(CK2)HMM predict
407Phosphoserine(PKG)HMM predict
407Phosphoserine(PKA)HMM predict
410Phosphoserine(CK1)HMM predict
416Phosphoserine(CDK)HMM predict
480Phosphothreonine(CDC2)HMM predict
480Phosphothreonine(MAPK)HMM predict
488Phosphoserine(IKK)HMM predict
491Phosphoserine(CK1)HMM predict
492Phosphoserine(CK1)HMM predict
501Phosphotyrosine(INSR)HMM predict
592Phosphoserine(CK1)HMM predict
618Phosphoserine(ATM)HMM predict
778Phosphoserine(PKG)HMM predict
792Phosphothreonine(PKC)HMM predict
849N-linkedHMM predict
849AsparagineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004703
  • Location:chr17 5126308-5229854
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FoxA1 MCF7MACSdata 5108974 5109156 182 17244
RARA MCF7GSE15244 5119159 5119377 218 7041
TAFII hESGSE17917 5126019 5126434 415 82
TFAP2C MCF7GSE21234 5125996 5126387 391 117
USF1 HepG2E 5125525 5125794 269 649
hScc1 BcellGSE12603 5125758 5126239 481 310
hScc1 CdLSGSE12603 5125525 5126843 1318 125
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NFkBII GM12892GSE19485 5125465 5127213 1748 0
Nanog ESGSE20650 5155074 5155292 218 0
Nanog hESGSE18292 5206000 5206705 705 0
Oct1 H2O2-HelaGSE14283 5184350 5184379 29 0
Oct1 HelaGSE14283 5136824 5136941 117 0
Oct1 HelaGSE14283 5184349 5184379 30 0
Pol2 GM12878GSE19551 5222609 5224100 1491 0
Rb QuiescentGSE19898 5223222 5223455 233 0
TAF k562GSE8489 5127011 5128240 1229 0
TFAP2C MCF7GSE21234 5130766 5131347 581 0
p130 SenescentGSE19898 5126195 5126519 324 0
p130 SenescentGSE19898 5126904 5127148 244 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-373 hsa-mir-373 19 21271679
hsa-miR-373* hsa-mir-373 19 21271679
No data
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


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