AutismKB 2.0

Annotation Detail for ARHGEF12


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Basic Information Top
Gene Symbol:ARHGEF12 ( DKFZp686O2372,KIAA0382,LARG,PRO2792 )
Gene Full Name: Rho guanine nucleotide exchange factor (GEF) 12
Band: 11q23.3
Quick LinksEntrez ID:23365; OMIM: 604763; Uniprot ID:ARHGC_HUMAN; ENSEMBL ID: ENSG00000196914; HGNC ID: 14193
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
22Phosphoserine (By similarity).
41Phosphoserine.
341Phosphoserine.
637Phosphoserine (By similarity).
736Phosphothreonine.
1286Phosphothreonine.
1288Phosphoserine.
1327Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
49Phosphoserine(CDC2)HMM predict
61Phosphoserine(CK2)HMM predict
61Phosphoserine(CK1)HMM predict
66Phosphotyrosine(SRC)HMM predict
110Phosphothreonine(PKC)HMM predict
118N-linkedHMM predict
151O-linkedHMM predict
151Phosphoserine(CDK)HMM predict
151Phosphoserine(CDC2)HMM predict
174Phosphothreonine(PKC)HMM predict
175Phosphoserine(CDC2)HMM predict
178Phosphoserine(MAPK)HMM predict
178Phosphoserine(IKK)HMM predict
178Phosphoserine(ATM)HMM predict
227Phosphotyrosine(Syk)HMM predict
228N-linkedHMM predict
267Phosphothreonine(CDC2)HMM predict
267Phosphothreonine(CDK)HMM predict
267Phosphothreonine(MAPK)HMM predict
279O-linkedHMM predict
296Phosphoserine(IKK)HMM predict
304Phosphoserine(ATM)HMM predict
319Phosphotyrosine(EGFR)HMM predict
337Phosphoserine(IKK)HMM predict
341Phosphoserine(CDC2)HMM predict
341PhosphoserineHMM predict
464SulfotyrosineHMM predict
467Phosphothreonine(PKC)HMM predict
541Phosphoserine(CK1)HMM predict
632Phosphothreonine(MAPK)HMM predict
637Phosphoserine(CDC2)HMM predict
637Phosphoserine(IKK)HMM predict
637Phosphoserine(MAPK)HMM predict
660Phosphotyrosine(Jak)HMM predict
667O-linkedHMM predict
676Phosphoserine(ATM)HMM predict
683N-linkedHMM predict
751Phosphoserine(ATM)HMM predict
753Phosphoserine(CK2)HMM predict
824Phosphoserine(MAPK)HMM predict
824Phosphoserine(CDC2)HMM predict
856N-linkedHMM predict
858Phosphothreonine(PKA)HMM predict
950SulfotyrosineHMM predict
955Phosphothreonine(PKC)HMM predict
996Phosphothreonine(PKA)HMM predict
1133Phosphoserine(PKG)HMM predict
1196Phosphoserine(IKK)HMM predict
1196Phosphoserine(CK1)HMM predict
1198Phosphoserine(CK1)HMM predict
1199Phosphothreonine(PKC)HMM predict
1348Phosphoserine(ATM)HMM predict
1377Phosphoserine(ATM)HMM predict
1428Phosphoserine(CK2)HMM predict
1429Phosphothreonine(CK2)HMM predict
1436Phosphoserine(CK1)HMM predict
1450Phosphoserine(PKC)HMM predict
1457Phosphoserine(IKK)HMM predict
1468Phosphoserine(CDC2)HMM predict
1495Phosphoserine(IKK)HMM predict
1499Phosphoserine(ATM)HMM predict
1537Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015313
  • Location:chr11 119713155-119865854
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 119710791 119711059 268 2231
CTCF CD4SISSRdata 119710791 119711059 268 2231
FOXA1 MCF7GSE15244 119712975 119713309 334 14
Oct4 hESGSE17917 119711993 119712455 462 932
PHF8 293TGSE20725 119711604 119712982 1378 863
PHF8 HeLaGSE20725 119711469 119713044 1575 899
TAF HelaGSE8489 119711108 119711627 519 1788
hScc1 BcellGSE12603 119710653 119711184 531 2237
hScc1 CdLSGSE12603 119710571 119711555 984 2093
hScc1 CdLSGSE12603 119711848 119712598 750 933
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 119807590 119808692 1102 0
ER E2-MCF7GSE14664 119799486 119799518 32 0
ER Fulvestrant-MCF7GSE14664 119765989 119766023 34 0
ER Fulvestrant-MCF7GSE14664 119778530 119778562 32 0
Fos K562GSE19551 119807909 119808402 493 0
Fos K562GSE19551 119857970 119858373 403 0
Gata2 K562GSE18868 119715367 119715845 478 0
H3K4me2 HCT116GSE10453 119713010 119713613 603 0
H3K4me3 colorectalcancer 119712743 119713865 1122 0
H3ac HepG2E 119712909 119714036 1127 0
H3ac HepG2E 119714328 119715881 1553 0
Oct1 H2O2-HelaGSE14283 119789372 119789401 29 0
Oct1 HelaGSE14283 119727604 119727636 32 0
Oct1 HelaGSE14283 119740668 119740700 32 0
Oct1 HelaGSE14283 119765990 119766023 33 0
Oct1 HelaGSE14283 119789369 119789408 39 0
Oct1 HelaGSE14283 119831323 119831371 48 0
P300 T30-glioblastomaGSE21026 119776416 119777447 1031 0
P300 T30-glioblastomaGSE21026 119807524 119808925 1401 0
RNAII Tamoxifen-MCF7GSE14664 119722145 119722241 96 0
RUNX JurkatGSE17954 119720138 119720708 570 0
TAF HelaGSE8489 119713130 119713996 866 0
p63 keratinocytesGSE17611 119759362 119760358 996 0
p63 keratinocytesGSE17611 119765920 119766754 834 0
p63 keratinocytesGSE17611 119835926 119836677 751 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
5312 mRNA ARHGEF12 chr11 119713155 119865855 471 mRNA chr11 119832977 119835258Sense/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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