AutismKB 2.0

Annotation Detail for ARHGEF3


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Basic Information Top
Gene Symbol:ARHGEF3 ( DKFZp434F2429,FLJ98126,GEF3,MGC118905,STA3,XPLN )
Gene Full Name: Rho guanine nucleotide exchange factor (GEF) 3
Band: 3p14.3
Quick LinksEntrez ID:50650; OMIM: 612115; Uniprot ID:ARHG3_HUMAN; ENSEMBL ID: ENSG00000163947; HGNC ID: 683
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
47Phosphoserine(CAMK2)HMM predict
58Phosphothreonine(CDK)HMM predict
58Phosphothreonine(MAPK)HMM predict
72Phosphoserine(PKB)HMM predict
96Phosphothreonine(PKC)HMM predict
101Phosphoserine(PKG)HMM predict
101Phosphoserine(CK1)HMM predict
131Phosphoserine(ATM)HMM predict
148Phosphotyrosine(Syk)HMM predict
182Phosphoserine(CK1)HMM predict
182Phosphoserine(ATM)HMM predict
209Phosphoserine(CK1)HMM predict
244Phosphoserine(CDC2)HMM predict
277Phosphothreonine(CDC2)HMM predict
336S-palmitoylHMM predict
337S-palmitoylHMM predict
420N-linkedHMM predict
424Phosphoserine(ATM)HMM predict
428Phosphoserine(IKK)HMM predict
432N-linkedHMM predict
436N-linkedHMM predict
469N-linkedHMM predict
489Phosphoserine(ATM)HMM predict
489Phosphoserine(CK2)HMM predict
493Phosphoserine(IKK)HMM predict
493Phosphoserine(CK2)HMM predict
514Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_019555
  • Location:chr3 56736485-56810992
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 56811164 56811591 427 385
CTCF CD4SISSRdata 56811164 56811591 427 385
CTCF G2GSE9613 56810840 56811439 599 147
CTCF G2GSE9613 56815545 56815880 335 4720
TFAP2C MCF7GSE21234 56811259 56811632 373 453
TFAP2C MCF7GSE21234 56820092 56820617 525 9362
TFAP2C MCF7GSE21234 56820701 56821145 444 9931
hScc1 BcellGSE12603 56810910 56811725 815 325
hScc1 CdLSGSE12603 56810910 56811725 815 325
hScc1 G2GSE9613 56810802 56811439 637 128
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 56809862 56810528 666 0
FOXA1 MCF7GSE15244 56792460 56793308 848 0
H3ac HepG2E 56809029 56810802 1773 0
Nanog hESGSE18292 56772095 56772823 728 0
Oct1 HelaGSE14283 56785902 56785935 33 0
P300 T30-glioblastomaGSE21026 56767554 56768189 635 0
RARA MCF7GSE15244 56767630 56768170 540 0
RARA MCF7GSE15244 56792633 56793208 575 0
RARG MCF7GSE15244 56792633 56793171 538 0
Sox2 hESGSE18292 56772423 56772843 420 0
hScc1 BcellGSE12603 56753162 56753427 265 0
hScc1 BcellGSE12603 56808313 56808674 361 0
hScc1 CdLSGSE12603 56808207 56808853 646 0
p130 shRbQuiescentGSE19898 56767546 56768112 566 0
p63 keratinocytesGSE17611 56792725 56793699 974 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-138 hsa-mir-138-2 16 20232393
hsa-miR-138 hsa-mir-138-1 3 20232393
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
627 Unknown MicroArray miR-373 ARHGEF3 n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000163947 n_a n_a n_a "squamous cell, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
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
18191 HTC chr3 57088010 57089169 40 mRNA ARHGEF3 chr3 56736485 57088333Sense/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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