AutismKB 2.0

Annotation Detail for PLEKHA4


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Basic Information Top
Gene Symbol:PLEKHA4 ( PEPP1 )
Gene Full Name: pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4
Band: 19q13.33
Quick LinksEntrez ID:57664; OMIM: 607769; Uniprot ID:PKHA4_HUMAN; ENSEMBL ID: ENSG00000105559; HGNC ID: 14339
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
8Phosphoserine(IKK)HMM predict
11Phosphoserine(IKK)HMM predict
18O-linkedHMM predict
21O-linkedHMM predict
26Phosphoserine(CDC2)HMM predict
26Phosphoserine(ATM)HMM predict
31Phosphothreonine(PKA)HMM predict
94Phosphoserine(IKK)HMM predict
94Phosphoserine(CK1)HMM predict
115MethylarginineHMM predict
120Phosphothreonine(PKA)HMM predict
152Phosphoserine(PKG)HMM predict
159SulfotyrosineHMM predict
159PhosphotyrosineHMM predict
159Phosphotyrosine(Abl)HMM predict
159Phosphotyrosine(INSR)HMM predict
159Phosphotyrosine(EGFR)HMM predict
164Phosphoserine(IKK)HMM predict
164Phosphoserine(CDK)HMM predict
164Phosphoserine(CDC2)HMM predict
184O-linkedHMM predict
192Phosphoserine(PKG)HMM predict
194Phosphoserine(CDC2)HMM predict
204MethylarginineHMM predict
211Phosphothreonine(CDK)HMM predict
211Phosphothreonine(MAPK)HMM predict
213Phosphoserine(CDC2)HMM predict
241Phosphoserine(IKK)HMM predict
241Phosphoserine(CDC2)HMM predict
241PhosphoserineHMM predict
241Phosphoserine(MAPK)HMM predict
260O-linkedHMM predict
271Phosphothreonine(MAPK)HMM predict
271Phosphothreonine(CDK)HMM predict
290Phosphothreonine(PKC)HMM predict
292O-linkedHMM predict
296Phosphothreonine(CDK)HMM predict
296Phosphothreonine(CDC2)HMM predict
296Phosphothreonine(PKC)HMM predict
296Phosphothreonine(MAPK)HMM predict
303O-linkedHMM predict
327Phosphoserine(IKK)HMM predict
418MethylarginineHMM predict
460Phosphothreonine(PKC)HMM predict
508Phosphoserine(CDC2)HMM predict
510Phosphoserine(IKK)HMM predict
510Phosphoserine(MAPK)HMM predict
523Phosphoserine(CK1)HMM predict
523Phosphoserine(IKK)HMM predict
531Phosphoserine(CK1)HMM predict
532Phosphoserine(CDC2)HMM predict
532Phosphoserine(MAPK)HMM predict
535Phosphoserine(IKK)HMM predict
535Phosphoserine(ATM)HMM predict
559Phosphoserine(CDC2)HMM predict
563O-linkedHMM predict
567Phosphoserine(CDC2)HMM predict
575Phosphoserine(MAPK)HMM predict
590Phosphoserine(PKG)HMM predict
612Phosphothreonine(PKC)HMM predict
613Phosphoserine(MAPK)HMM predict
618Phosphothreonine(PKC)HMM predict
624Phosphoserine(CDC2)HMM predict
624Phosphoserine(CDK)HMM predict
624Phosphoserine(CAMK2)HMM predict
652Phosphoserine(IKK)HMM predict
658N-linkedHMM predict
659O-linkedHMM predict
662Phosphotyrosine(Jak)HMM predict
675Phosphoserine(CK1)HMM predict
698Phosphoserine(ATM)HMM predict
718Phosphothreonine(CDK)HMM predict
718Phosphothreonine(MAPK)HMM predict
723O-linkedHMM predict
739Phosphoserine(PKA)HMM predict
739Phosphoserine(PKC)HMM predict
741MethylarginineHMM predict
746Phosphothreonine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020904
  • Location:chr19 54032166-54063669
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Rb GrowingGSE19898 54063644 54063859 215 82
p130 QuiescentGSE19898 54063789 54063929 140 190
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 54037765 54038029 264 0
CTCF CD4SISSRdata 54037765 54038029 264 0
CTCF JurkatGSE12889 54037854 54038005 151 0
ETS1 JurkatGSE17954 54033624 54034400 776 0
ETS1 JurkatGSE17954 54053382 54054862 1480 0
Fos K562GSE19551 54039405 54039925 520 0
Fos K562GSE19551 54054199 54055888 1689 0
H3K27me3 colorectalcancer 54061920 54062524 604 0
Oct1 H2O2-HelaGSE14283 54047393 54047420 27 0
Sox2 hESGSE18292 54037891 54038047 156 0
Sox2 hESGSE18292 54053782 54054092 310 0
TAF k562GSE8489 54054785 54055535 750 0
hScc1 BcellGSE12603 54032361 54032612 251 0
hScc1 BcellGSE12603 54038024 54038197 173 0
p130 QuiescentGSE19898 54063485 54063624 139 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


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