AutismKB 2.0

Annotation Detail for PLEKHA5


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Basic Information Top
Gene Symbol:PLEKHA5 ( FLJ10667,FLJ26734,FLJ31492,KIAA1686,PEPP-2,PEPP2 )
Gene Full Name: pleckstrin homology domain containing, family A member 5
Band: 12p12.3
Quick LinksEntrez ID:54477; OMIM: 607770; Uniprot ID:PKHA5_HUMAN; ENSEMBL ID: ENSG00000052126; HGNC ID: 30036
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
128Phosphotyrosine.
134Phosphotyrosine.
353Phosphotyrosine.
410Phosphoserine.
438Phosphothreonine.
476Phosphothreonine.
568Phosphoserine.
607Phosphoserine.
855Phosphoserine.
857Phosphothreonine.
930Phosphoserine.
933Phosphoserine.
937Phosphoserine.
Location(AA) Modifications Resource
128Phosphotyrosine.Swiss-Prot 53.0
134Phosphotyrosine.Swiss-Prot 53.0
568Phosphoserine.Swiss-Prot 53.0
855Phosphoserine.Swiss-Prot 53.0
855PhosphoserinePhospho.ELM 6.0
857Phosphothreonine.Swiss-Prot 53.0
857PhosphothreoninePhospho.ELM 6.0
933PhosphoserinePhospho.ELM 6.0
933Phosphoserine.Swiss-Prot 53.0
937Phosphoserine.Swiss-Prot 53.0
937PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
35Phosphoserine(CK1)HMM predict
55Phosphoserine(PKA)HMM predict
83Phosphothreonine(PKC)HMM predict
83Phosphothreonine(PKA)HMM predict
129N-linkedHMM predict
247Phosphotyrosine(Jak)HMM predict
351Phosphoserine(CK1)HMM predict
357O-linkedHMM predict
370N-linkedHMM predict
376N-linkedHMM predict
398Phosphotyrosine(INSR)HMM predict
458Phosphotyrosine(Syk)HMM predict
460Phosphothreonine(PKC)HMM predict
471Phosphoserine(IKK)HMM predict
476O-linkedHMM predict
523Phosphothreonine(PKA)HMM predict
523Phosphothreonine(CDK)HMM predict
525Phosphoserine(CK1)HMM predict
526Phosphoserine(CDC2)HMM predict
544Phosphoserine(CDC2)HMM predict
557Phosphoserine(CDC2)HMM predict
561Phosphothreonine(PKC)HMM predict
568Phosphoserine(CDC2)HMM predict
607Phosphoserine(CDC2)HMM predict
617Phosphoserine(ATM)HMM predict
624Phosphothreonine(PKC)HMM predict
674Phosphoserine(ATM)HMM predict
832O-linkedHMM predict
855Phosphoserine(PKB)HMM predict
855PhosphoserineHMM predict
855Phosphoserine(CDC2)HMM predict
855Phosphoserine(PKG)HMM predict
857Phosphothreonine(CDK)HMM predict
857O-linkedHMM predict
857Phosphothreonine(MAPK)HMM predict
860O-linkedHMM predict
862O-linkedHMM predict
868Phosphothreonine(PKC)HMM predict
885Phosphoserine(IKK)HMM predict
885Phosphoserine(PKG)HMM predict
901Phosphothreonine(PKC)HMM predict
933Phosphoserine(IKK)HMM predict
1037Phosphoserine(CDC2)HMM predict
1073Phosphoserine(CK2)HMM predict
1090Phosphoserine(CDK)HMM predict
1090PhosphoserineHMM predict
1090Phosphoserine(CDC2)HMM predict
1090Phosphoserine(MAPK)HMM predict
1092Phosphoserine(CDC2)HMM predict
1092Phosphoserine(ATM)HMM predict
1092Phosphoserine(IKK)HMM predict
1092Phosphoserine(CDK)HMM predict
1095O-linkedHMM predict
1095Phosphoserine(IKK)HMM predict
1096O-linkedHMM predict
1098O-linkedHMM predict
1098Phosphoserine(CDC2)HMM predict
1098Phosphoserine(MAPK)HMM predict
1098Phosphoserine(ATM)HMM predict
1098Phosphoserine(IKK)HMM predict
1098PhosphoserineHMM predict
1102O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_019012
  • Location:chr12 19173994-19420597
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 19173300 19173825 525 432
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF HelaGSE12889 19432656 19432940 284 12201
P300 T30-glioblastomaGSE21026 19425969 19426761 792 5768
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 19317811 19318653 842 0
CTCF CD4GSE12889 19230999 19231211 212 0
CTCF CD4SISSRdata 19230999 19231211 212 0
CTCF G2GSE9613 19173998 19175051 1053 0
CTCF G2GSE9613 19230361 19230699 338 0
FOXA1 DLD1GSE12801 19317938 19318557 619 0
FOXA1 DLD1GSE12801 19368050 19368564 514 0
FOXA1 MCF7GSE15244 19174954 19175557 603 0
FOXA1 MCF7GSE15244 19317718 19318852 1134 0
FOXA1 MCF7GSE15244 19348585 19348964 379 0
FoxA1 MCF7MACSdata 19175191 19175378 187 0
FoxA1 MCF7MACSdata 19318174 19318425 251 0
H3ac HepG2E 19174954 19175694 740 0
KLF4 hESGSE17917 19174337 19174556 219 0
Myc K562GSE19551 19188374 19188861 487 0
Nanog ESGSE20650 19307828 19308220 392 0
Nanog ESGSE20650 19332360 19332715 355 0
Nanog hESGSE18292 19307669 19308398 729 0
Oct1 H2O2-HelaGSE14283 19295451 19295478 27 0
Oct1 HelaGSE14283 19205135 19205169 34 0
Oct1 HelaGSE14283 19405226 19405290 64 0
P300 T0-glioblastomaGSE21026 19196247 19196763 516 0
P300 T0-glioblastomaGSE21026 19202847 19203625 778 0
P300 T0-glioblastomaGSE21026 19317956 19318774 818 0
P300 T0-glioblastomaGSE21026 19367878 19368644 766 0
P300 T30-glioblastomaGSE21026 19317793 19318644 851 0
P300 T30-glioblastomaGSE21026 19367892 19368377 485 0
RARA MCF7GSE15244 19317645 19318990 1345 0
RARG MCF7GSE15244 19317718 19318417 699 0
STAT1 HeLaGSE12783 19348441 19349354 913 0
STAT1 IFNSISSRdata 19348463 19349178 715 0
Stat6 IL-4-hr4GSE17850 19348916 19349406 490 0
TAF HelaGSE8489 19351699 19351983 284 0
TFAP2C MCF7GSE21234 19182657 19183096 439 0
TFAP2C MCF7GSE21234 19242388 19242883 495 0
hScc1 CdLSGSE12603 19230848 19231480 632 0
hScc1 CdLSGSE12603 19332727 19333059 332 0
hScc1 G2GSE9613 19173998 19175209 1211 0
hScc1 G2GSE9613 19230770 19231340 570 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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