AutismKB 2.0

Annotation Detail for RAB8A


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Basic Information Top
Gene Symbol:RAB8A ( MEL,RAB8 )
Gene Full Name: RAB8A, member RAS oncogene family
Band: 19p13.11
Quick LinksEntrez ID:4218; OMIM: 165040; Uniprot ID:RAB8A_HUMAN; ENSEMBL ID: ENSG00000167461; HGNC ID: 7007
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
45Effector region (By similarity).
181Phosphoserine.
185Phosphoserine.
192Phosphothreonine.
204Cysteine methyl ester (Potential).
Location(AA) Modifications Resource
181Phosphoserine.Swiss-Prot 53.0
181PhosphoserinePhospho.ELM 6.0
185Phosphoserine.Swiss-Prot 53.0
185PhosphoserinePhospho.ELM 6.0
204S-geranylgeranyl cysteine.Swiss-Prot 53.0
Location(AA) Modification Resource
34N-linkedHMM predict
132Phosphoserine(PKG)HMM predict
181Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005370
  • Location:chr19 16083489-16105442
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 16083111 16083681 570 94
CTCF CD4SISSRdata 16083111 16083681 570 94
CTCF HelaGSE12889 16083160 16083356 196 232
CTCF JurkatGSE12889 16083072 16083417 345 245
Fos K562GSE19551 16082930 16083907 977 71
PHF8 293TGSE20725 16082447 16083303 856 615
Rb GrowingGSE19898 16083050 16083307 257 311
Rb QuiescentGSE19898 16083006 16083296 290 339
Rb SenescentGSE19898 16083006 16083891 885 41
Rb shRbQuiescentGSE19898 16082932 16083311 379 368
Rb shRbSenescenceGSE19898 16083028 16083400 372 276
hScc1 BcellGSE12603 16083052 16083660 608 134
p130 QuiescentGSE19898 16082954 16083352 398 337
p130 SenescentGSE19898 16082959 16083778 819 121
p130 shRbQuiescentGSE19898 16082997 16083393 396 295
p130 shRbSenescentGSE19898 16083001 16083746 745 116
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 16089644 16089809 165 0
CTCF CD4SISSRdata 16089644 16089809 165 0
ETS1 JurkatGSE17954 16082896 16084129 1233 0
H3ac HepG2E 16083955 16085161 1206 0
NFkBII GM15510GSE19485 16082847 16084241 1394 0
PHF8 293TGSE20725 16083525 16084258 733 0
TAF HelaGSE8489 16084785 16085161 376 0
TFAP2C MCF7GSE21234 16089396 16089932 536 0
hScc1 BcellGSE12603 16099454 16099834 380 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-451 hsa-mir-451 17 17588470
No data
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
12844 mRNA RAB8A chr19 16083489 16105443 1041 HTC chr19 16104279 16111631Sense/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