AutismKB 2.0

Annotation Detail for DIAPH3


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Basic Information Top
Gene Symbol:DIAPH3 ( DKFZp434C0931,DKFZp686A13178,DRF3,FLJ34705,diap3,mDia2 )
Gene Full Name: diaphanous homolog 3 (Drosophila)
Band: 13q21.2
Quick LinksEntrez ID:81624; OMIM: NA; Uniprot ID:DIAP3_HUMAN; ENSEMBL ID: ENSG00000139734; HGNC ID: 15480
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
15Phosphoserine(IKK)HMM predict
19O-linkedHMM predict
19PhosphothreonineHMM predict
19Phosphothreonine(MAPK)HMM predict
26Phosphoserine(PKC)HMM predict
100Phosphoserine(CK2)HMM predict
167Phosphoserine(PKA)HMM predict
175Phosphoserine(PKG)HMM predict
175Phosphoserine(CAMK2)HMM predict
202Phosphoserine(IKK)HMM predict
209Phosphoserine(IKK)HMM predict
265Phosphoserine(CK1)HMM predict
269Phosphoserine(CK1)HMM predict
302Phosphoserine(CK2)HMM predict
418Phosphotyrosine(Syk)HMM predict
480Phosphothreonine(PKC)HMM predict
521Phosphothreonine(CK2)HMM predict
573O-linkedHMM predict
583O-linkedHMM predict
583O-linkedHMM predict
607O-linkedHMM predict
607Phosphoserine(ATM)HMM predict
607O-linkedHMM predict
624Phosphoserine(CDK)HMM predict
673Phosphotyrosine(Syk)HMM predict
673Phosphotyrosine(SRC)HMM predict
673Phosphotyrosine(INSR)HMM predict
771Phosphoserine(ATM)HMM predict
849Phosphotyrosine(INSR)HMM predict
962Phosphotyrosine(Syk)HMM predict
1080Phosphothreonine(PKA)HMM predict
1089Phosphoserine(PKG)HMM predict
1091Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001042517
  • Location:chr13 59137725-59636119
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 59635745 59636520 775 13
Fos K562GSE19551 59635787 59636481 694 15
GABP HelaGSE8489 59636345 59637249 904 678
GABP k562GSE8489 59636173 59637249 1076 592
H3K4me3 colorectalcancer 59636669 59637249 580 840
H3ac HepG2E 59636311 59637022 711 547
P300 T30-glioblastomaGSE21026 59635568 59636979 1411 154
PHF8 293TGSE20725 59635600 59636713 1113 37
TAF k562GSE8489 59636556 59637022 466 670
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF JurkatGSE12889 59606604 59606832 228 0
CTCF G2GSE9613 59171331 59171473 142 0
CTCF G2GSE9613 59243184 59243745 561 0
E2F4 G0GSE7516 59635355 59636743 1388 0
E2F4 SGSE7516 59635243 59636449 1206 0
ER E2-MCF7GSE14664 59618872 59618906 34 0
GABP HelaGSE8489 59634094 59635828 1734 0
H3K4me3 colorectalcancer 59634993 59635745 752 0
LIN54 G0GSE7516 59635469 59636311 842 0
LIN9 G0GSE7516 59635277 59636779 1502 0
LIN9 SGSE7516 59635137 59636817 1680 0
Oct1 H2O2-HelaGSE14283 59192183 59192220 37 0
Oct1 H2O2-HelaGSE14283 59507803 59507834 31 0
Oct1 HelaGSE14283 59507798 59507832 34 0
Oct1 HelaGSE14283 59633485 59633517 32 0
PHF8 HeLaGSE20725 59635443 59636504 1061 0
Rb QuiescentGSE19898 59635896 59636239 343 0
TAF k562GSE8489 59634847 59635643 796 0
TFAP2C MCF7GSE21234 59222795 59223216 421 0
hScc1 BcellGSE12603 59243570 59243745 175 0
hScc1 CdLSGSE12603 59150155 59150805 650 0
hScc1 CdLSGSE12603 59152432 59153044 612 0
hScc1 CdLSGSE12603 59206523 59206892 369 0
hScc1 G2GSE9613 59243215 59243745 530 0
p130 QuiescentGSE19898 59635398 59636458 1060 0
p130 SenescentGSE19898 59223075 59223248 173 0
p130 SenescentGSE19898 59635475 59636591 1116 0
p130 shRbQuiescentGSE19898 59635389 59636633 1244 0
p130 shRbSenescentGSE19898 59635435 59636486 1051 0
p130 G0GSE7516 59635310 59636743 1433 0
p130 SGSE7516 59635028 59636669 1641 0
p63 keratinocytesGSE17611 59550098 59550771 673 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
7264 HTC chr13 59484861 59516492 100 mRNA DIAPH3 chr13 59396981 59636042Sense/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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