AutismKB 2.0

Annotation Detail for ARHGEF1


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Basic Information Top
Gene Symbol:ARHGEF1 ( GEF1,LBCL2,LSC,P115-RHOGEF,SUB1.5 )
Gene Full Name: Rho guanine nucleotide exchange factor (GEF) 1
Band: 19q13.2
Quick LinksEntrez ID:9138; OMIM: 601855; Uniprot ID:ARHG1_HUMAN; ENSEMBL ID: ENSG00000076928; HGNC ID: 681
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
738Phosphotyrosine; by JAK2.
863Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
10O-linkedHMM predict
10Phosphoserine(CDC2)HMM predict
10Phosphoserine(CDK)HMM predict
14O-linkedHMM predict
39Phosphoserine(CK1)HMM predict
48Phosphoserine(IKK)HMM predict
209Phosphoserine(CK2)HMM predict
210Phosphothreonine(CK2)HMM predict
261Phosphothreonine(PKC)HMM predict
302O-linkedHMM predict
321Phosphothreonine(MAPK)HMM predict
350Phosphoserine(CDC2)HMM predict
374Phosphoserine(ATM)HMM predict
695Phosphothreonine(MAPK)HMM predict
697Phosphothreonine(CDC2)HMM predict
738Phosphotyrosine(SRC)HMM predict
761O-linkedHMM predict
776O-linkedHMM predict
776Phosphoserine(CDC2)HMM predict
778Phosphoserine(CDC2)HMM predict
780Phosphothreonine(PKC)HMM predict
786Phosphoserine(CK1)HMM predict
863Phosphoserine(CDC2)HMM predict
876Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004706
  • Location:chr19 47079106-47103439
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 47078150 47078387 237 838
VDR GM10861-stimGSE22484 47076227 47081600 5373 193
p130 SenescentGSE19898 47078326 47078635 309 626
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 47079132 47079682 550 0
PHF8 293TGSE20725 47079691 47080635 944 0
PHF8 HeLaGSE20725 47078575 47080809 2234 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-17 hsa-mir-17 13 20406979
hsa-miR-17* hsa-mir-17 13 20406979
hsa-miR-29a hsa-mir-29a 7 20212066
hsa-miR-29a* hsa-mir-29a 7 20212066
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
hsa-miR-92a hsa-mir-92a-1 13 20406979
hsa-miR-92a hsa-mir-92a-2 X 20406979
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
242 Unknown MicroArray miR-124 ARHGEF1 n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000076928 G1-to-S transition n_a n_a "epithelium, lymphoblast, lymphocyte" "benign tumour, malignant tumour, carcinoma, leukaemia, non-Hodgkin's, sarcoma"
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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