AutismKB 2.0

Annotation Detail for ARHGEF6


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ARHGEF6 ( COOL2,Cool-2,KIAA0006,MRX46,PIXA,alpha-PIX,alphaPIX )
Gene Full Name: Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
Band: Xq26.3
Quick LinksEntrez ID:9459; OMIM: 300267; Uniprot ID:ARHG6_HUMAN; ENSEMBL ID: ENSG00000129675; HGNC ID: 685
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
122Phosphoserine (By similarity).
126Phosphoserine.
144Phosphoserine.
150Phosphoserine.
188Phosphotyrosine.
225Phosphoserine.
488Phosphoserine.
640Phosphoserine.
650Phosphothreonine (By similarity).
684Phosphoserine.
751N6-acetyllysine.
Location(AA) Modifications Resource
122Phosphoserine (By similarity).Swiss-Prot 53.0
225Phosphoserine.Swiss-Prot 53.0
225PhosphoserinePhospho.ELM 6.0
488Phosphoserine.Swiss-Prot 53.0
488PhosphoserinePhospho.ELM 6.0
640Phosphoserine (By similarity).Swiss-Prot 53.0
650Phosphothreonine (By similarity).Swiss-Prot 53.0
684Phosphoserine.Swiss-Prot 53.0
684PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
19Phosphoserine(CDC2)HMM predict
110Phosphothreonine(CK2)HMM predict
124Phosphoserine(PKB)HMM predict
124O-linkedHMM predict
126Phosphoserine(IKK)HMM predict
129N-linkedHMM predict
131O-linkedHMM predict
134N-linkedHMM predict
142O-linkedHMM predict
158N-linkedHMM predict
225Phosphoserine(MAPK)HMM predict
225Phosphoserine(CDC2)HMM predict
329Phosphoserine(Jak)HMM predict
349PhosphoserineHMM predict
363Phosphoserine(CDC2)HMM predict
484Phosphoserine(CDK)HMM predict
552Phosphoserine(IKK)HMM predict
555Phosphoserine(IKK)HMM predict
555Phosphoserine(CK1)HMM predict
560O-linkedHMM predict
562Phosphoserine(CK2)HMM predict
569O-linkedHMM predict
569Phosphoserine(IKK)HMM predict
571Phosphoserine(CK1)HMM predict
571O-linkedHMM predict
622Phosphoserine(IKK)HMM predict
622Phosphoserine(CDC2)HMM predict
635Phosphothreonine(PKC)HMM predict
640Phosphoserine(PKC)HMM predict
640Phosphoserine(PKG)HMM predict
640Phosphoserine(CK1)HMM predict
650Phosphothreonine(PKA)HMM predict
680Phosphothreonine(PKC)HMM predict
684Phosphoserine(IKK)HMM predict
684Phosphoserine(PKG)HMM predict
770Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004840
  • Location:chrX 135575376-135691168
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 135692792 135693693 901 2074
FoxA1 MCF7MACSdata 135693002 135693353 351 2009
NRSF mAbJurkat 135690876 135692279 1403 409
Nanog hESGSE18292 135704070 135704331 261 13032
Oct1 HelaGSE14283 135700435 135700489 54 9294
Oct1 HelaGSE14283 135700527 135700567 40 9379
RARA MCF7GSE15244 135692750 135694119 1369 2266
RARG MCF7GSE15244 135692750 135694119 1369 2266
TFAP2C MCF7GSE21234 135692874 135693534 660 2036
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 135598407 135599926 1519 0
CTCF CD4GSE12889 135604712 135605034 322 0
CTCF CD4GSE12889 135618231 135618529 298 0
CTCF CD4SISSRdata 135604712 135605034 322 0
CTCF CD4SISSRdata 135618231 135618529 298 0
CTCF G2GSE9613 135604436 135604931 495 0
CTCF G2GSE9613 135676812 135677889 1077 0
ER E2-MCF7GSE14664 135635756 135635792 36 0
NFkBII GM12878GSE19485 135619779 135620936 1157 0
Nanog ESGSE20650 135669891 135670392 501 0
Oct1 HelaGSE14283 135585191 135585269 78 0
Oct1 HelaGSE14283 135595035 135595090 55 0
Oct1 HelaGSE14283 135612337 135612367 30 0
Oct4 ESGSE20650 135669942 135670308 366 0
RARA MCF7GSE15244 135678065 135678688 623 0
TAF k562GSE8489 135678029 135678651 622 0
TFAP2C MCF7GSE21234 135577073 135578106 1033 0
TFAP2C MCF7GSE21234 135678302 135678747 445 0
hScc1 BcellGSE12603 135644962 135645182 220 0
hScc1 BcellGSE12603 135676689 135677959 1270 0
hScc1 CdLSGSE12603 135604362 135604966 604 0
hScc1 G2GSE9613 135582393 135582792 399 0
hScc1 G2GSE9613 135604290 135604894 604 0
hScc1 G2GSE9613 135640637 135640904 267 0
hScc1 G2GSE9613 135676780 135677815 1035 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