AutismKB 2.0

Annotation Detail for PLEKHA1


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Basic Information Top
Gene Symbol:PLEKHA1 ( TAPP1 )
Gene Full Name: pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1
Band: 10q26.13
Quick LinksEntrez ID:59338; OMIM: 607772; Uniprot ID:PKHA1_HUMAN; ENSEMBL ID: ENSG00000107679; HGNC ID: 14335
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
332Phosphoserine.
362Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
121Phosphoserine(IKK)HMM predict
121Phosphoserine(ATM)HMM predict
127N-linkedHMM predict
177Phosphoserine(PKG)HMM predict
273Phosphoserine(CDC2)HMM predict
299O-linkedHMM predict
300O-linkedHMM predict
316O-linkedHMM predict
316O-linkedHMM predict
322O-linkedHMM predict
328O-linkedHMM predict
332Phosphoserine(CK1)HMM predict
332O-linkedHMM predict
332Phosphoserine(PKB)HMM predict
332Phosphoserine(IKK)HMM predict
360Phosphothreonine(PKC)HMM predict
362Phosphoserine(CDC2)HMM predict
371O-linkedHMM predict
380Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001001974
  • Location:chr10 124124209-124181855
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 124123212 124123767 555 720
Nanog hESGSE18292 124118226 124118637 411 5778
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 124123610 124125332 1722 0
H3ac HepG2E 124125024 124125577 553 0
PHF8 293TGSE20725 124123812 124125120 1308 0
hScc1 BcellGSE12603 124123871 124124681 810 0
hScc1 G2GSE9613 124124055 124124540 485 0
p130 shRbQuiescentGSE19898 124124768 124125468 700 0
Validated miRNA targets Top
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