AutismKB 2.0

Annotation Detail for PLEKHA3


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Basic Information Top
Gene Symbol:PLEKHA3 ( FAPP1,FLJ20067 )
Gene Full Name: pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3
Band: 2q31.2
Quick LinksEntrez ID:65977; OMIM: 607774; Uniprot ID:PKHA3_HUMAN; ENSEMBL ID: ENSG00000116095; HGNC ID: 14338
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
289Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
32Phosphoserine(ATM)HMM predict
72Phosphotyrosine(INSR)HMM predict
107Phosphoserine(CK2)HMM predict
107Phosphoserine(CK1)HMM predict
112O-linkedHMM predict
115PhosphothreonineHMM predict
143N-linkedHMM predict
145Phosphoserine(CK1)HMM predict
146PhosphoserineHMM predict
146Phosphoserine(ATM)HMM predict
157Phosphoserine(CK1)HMM predict
165O-linkedHMM predict
196Phosphoserine(MAPK)HMM predict
196O-linkedHMM predict
196Phosphoserine(CDC2)HMM predict
199Phosphoserine(CDC2)HMM predict
199Phosphoserine(MAPK)HMM predict
199O-linkedHMM predict
201PhosphoserineHMM predict
201Phosphoserine(IKK)HMM predict
201Phosphoserine(CDC2)HMM predict
211PhosphoserineHMM predict
211Phosphoserine(IKK)HMM predict
215Phosphoserine(IKK)HMM predict
218O-linkedHMM predict
221Phosphoserine(CK2)HMM predict
221Phosphoserine(CK1)HMM predict
224Phosphoserine(IKK)HMM predict
231Phosphothreonine(PKC)HMM predict
242Phosphothreonine(PKC)HMM predict
242Phosphothreonine(PKA)HMM predict
244Phosphoserine(PKB)HMM predict
248Phosphoserine(IKK)HMM predict
289Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_019091
  • Location:chr2 179053444-179078025
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 179053241 179053612 371 18
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog ESGSE20650 179079453 179079879 426 1641
Nanog hESGSE18292 179079436 179079829 393 1607
Oct1 H2O2-HelaGSE14283 179081594 179081632 38 3588
Oct1 HelaGSE14283 179081595 179081630 35 3587
Rb SenescentGSE19898 179087741 179087904 163 9797
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 179053134 179053969 835 0
FoxA1 MCF7MACSdata 179057684 179057957 273 0
Oct1 H2O2-HelaGSE14283 179057097 179057127 30 0
Oct1 HelaGSE14283 179057097 179057131 34 0
PHF8 HeLaGSE20725 179053077 179054116 1039 0
Validated miRNA targets Top
Cis-Nats regulation Top

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  (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