AutismKB 2.0

Annotation Detail for RAB3GAP2


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Basic Information Top
Gene Symbol:RAB3GAP2 ( DKFZp434D245,FLJ14579,KIAA0839,RAB3-GAP150,RAB3GAP150,p150 )
Gene Full Name: RAB3 GTPase activating protein subunit 2 (non-catalytic)
Band: 1q41
Quick LinksEntrez ID:25782; OMIM: 609275; Uniprot ID:RBGPR_HUMAN; ENSEMBL ID: ENSG00000118873; HGNC ID: 17168
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
450Phosphoserine.
901Phosphothreonine.
Location(AA) Modifications Resource
450Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
73Phosphoserine(IKK)HMM predict
83Phosphoserine(CDC2)HMM predict
146Phosphoserine(CDC2)HMM predict
164Phosphotyrosine(EGFR)HMM predict
372Phosphothreonine(MAPK)HMM predict
509N-linkedHMM predict
512Phosphoserine(CK1)HMM predict
531Phosphoserine(Jak)HMM predict
611N-linkedHMM predict
627Phosphoserine(CK1)HMM predict
730Phosphoserine(PKG)HMM predict
730Phosphoserine(CK2)HMM predict
734Phosphotyrosine(SRC)HMM predict
734Phosphotyrosine(INSR)HMM predict
734Phosphotyrosine(Syk)HMM predict
771Phosphoserine(MAPK)HMM predict
854N-linkedHMM predict
1079Phosphoserine(CDC2)HMM predict
1116Phosphoserine(CK2)HMM predict
1175Phosphothreonine(PKC)HMM predict
1242Phosphothreonine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_012414
  • Location:chr1 218390349-218512374
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 218521157 218521364 207 8886
CTCF CD4SISSRdata 218521157 218521364 207 8886
H3K27me3 colorectalcancer 218516221 218516528 307 4000
Nanog hESGSE18292 218530139 218530708 569 18049
Oct4 hESGSE17917 218530403 218530757 354 18206
Oct4 hESGSE21916 218530276 218530706 430 18117
Rb GrowingGSE19898 218530429 218530640 211 18160
USF2 HepG2E 218512256 218512877 621 192
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 218429753 218429976 223 0
CTCF CD4GSE12889 218458712 218458881 169 0
CTCF CD4SISSRdata 218429753 218429976 223 0
CTCF CD4SISSRdata 218458712 218458881 169 0
CTCF G2GSE9613 218457247 218457492 245 0
CTCF G2GSE9613 218511904 218512452 548 0
H3K4me3 colorectalcancer 218510440 218512006 1566 0
H3ac HepG2E 218510154 218512042 1888 0
NFkBII GM12878GSE19485 218458544 218464887 6343 0
NFkBII GM18526GSE19485 218459206 218461555 2349 0
Nanog hESGSE18292 218474968 218475471 503 0
PHF8 293TGSE20725 218511670 218512854 1184 0
PHF8 HeLaGSE20725 218511624 218512968 1344 0
PHF8 Hs68plusFBSGSE20725 218511564 218512798 1234 0
TAF k562GSE8489 218510296 218511863 1567 0
USF1 HepG2E 218511252 218513021 1769 0
hScc1 BcellGSE12603 218512183 218512524 341 0
hScc1 CdLSGSE12603 218458729 218459080 351 0
p130 QuiescentGSE19898 218511874 218512471 597 0
p130 SenescentGSE19898 218511729 218512918 1189 0
p130 shRbQuiescentGSE19898 218511562 218512888 1326 0
p130 shRbSenescentGSE19898 218511924 218512363 439 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
2361 EST chr1 216712198 216712883 556 mRNA RAB3-GAP150 chr1 216712121 216834147Sense/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


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