AutismKB 2.0

Annotation Detail for DIAPH2


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Basic Information Top
Gene Symbol:DIAPH2 ( DIA,DIA2,DRF2,FLJ11167,POF,POF2 )
Gene Full Name: diaphanous homolog 2 (Drosophila)
Band: Xq21.33
Quick LinksEntrez ID:1730; OMIM: 300108; Uniprot ID:DIAP2_HUMAN; ENSEMBL ID: ENSG00000147202; HGNC ID: 2877
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
632Phosphotyrosine.
Location(AA) Modifications Resource
632Phosphotyrosine.Swiss-Prot 53.0
632PhosphotyrosinePhospho.ELM 6.0
Location(AA) Modification Resource
9O-linkedHMM predict
65Phosphoserine(PKC)HMM predict
66Phosphothreonine(PKC)HMM predict
80Phosphoserine(ATM)HMM predict
189Phosphoserine(IKK)HMM predict
196Phosphoserine(IKK)HMM predict
544Phosphoserine(CK1)HMM predict
546O-linkedHMM predict
632Phosphotyrosine(Jak)HMM predict
642N-linkedHMM predict
728Phosphotyrosine(Syk)HMM predict
771Phosphotyrosine(Syk)HMM predict
867Phosphothreonine(PKA)HMM predict
958Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006729
  • Location:chrX 95826364-96746648
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 96758672 96758825 153 12100
Oct1 HelaGSE14283 96760963 96761009 46 14338
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 96670641 96670674 33 0
ER E2-MCF7GSE14664 96697656 96697738 82 0
ER E2-MCF7GSE14664 96697884 96697918 34 0
ER E2-MCF7GSE14664 96705753 96705847 94 0
ER E2-MCF7GSE14664 96706022 96706055 33 0
ER Fulvestrant-MCF7GSE14664 96629929 96629965 36 0
ER Fulvestrant-MCF7GSE14664 96670640 96670674 34 0
ER Fulvestrant-MCF7GSE14664 96730034 96730079 45 0
Nanog ESGSE20650 96646031 96646597 566 0
Nanog hESGSE18292 96646004 96646640 636 0
Nanog hESGSE18292 96739555 96740263 708 0
Oct1 H2O2-HelaGSE14283 96646090 96646122 32 0
Oct1 H2O2-HelaGSE14283 96715734 96715768 34 0
Oct1 H2O2-HelaGSE14283 96716152 96716189 37 0
Oct1 HelaGSE14283 96629923 96629968 45 0
Oct1 HelaGSE14283 96646090 96646122 32 0
Oct1 HelaGSE14283 96669922 96669949 27 0
Oct1 HelaGSE14283 96670641 96670700 59 0
Oct1 HelaGSE14283 96706019 96706049 30 0
Oct1 HelaGSE14283 96707385 96707412 27 0
Oct1 HelaGSE14283 96716156 96716191 35 0
Oct1 HelaGSE14283 96721917 96721993 76 0
Oct1 HelaGSE14283 96730490 96730520 30 0
Oct1 HelaGSE14283 96732518 96732547 29 0
Oct1 HelaGSE14283 96740467 96740499 32 0
RARA MCF7GSE15244 96689366 96689809 443 0
RARA MCF7GSE15244 96728702 96729388 686 0
RNAII Tamoxifen-MCF7GSE14664 96629927 96629967 40 0
RNAII Tamoxifen-MCF7GSE14664 96705743 96705808 65 0
TFAP2C MCF7GSE21234 96622895 96623244 349 0
TFAP2C MCF7GSE21234 96728866 96729285 419 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
27907 mRNA DIAPH2 chrX 95745855 96666137 201 mRNA EPAG chrX 96594316 96678457Sense/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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