AutismKB 2.0

Annotation Detail for PLEKHF1


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Basic Information Top
Gene Symbol:PLEKHF1 ( APPD,MGC4090,PHAFIN1,ZFYVE15 )
Gene Full Name: pleckstrin homology domain containing, family F (with FYVE domain) member 1
Band: 19q12
Quick LinksEntrez ID:79156; OMIM: NA; Uniprot ID:PKHF1_HUMAN; ENSEMBL ID: ENSG00000166289; HGNC ID: 20764
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
44N6-acetyllysine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
43Phosphothreonine(PKC)HMM predict
76Phosphoserine(ATM)HMM predict
108O-linkedHMM predict
117Phosphothreonine(PKC)HMM predict
142O-linkedHMM predict
170Phosphothreonine(PKC)HMM predict
197Phosphoserine(MAPK)HMM predict
197Phosphoserine(CDC2)HMM predict
227Phosphoserine(CDC2)HMM predict
227Phosphoserine(CDK)HMM predict
227Phosphoserine(ATM)HMM predict
227O-linkedHMM predict
243Phosphoserine(CK2)HMM predict
249Phosphoserine(CK2)HMM predict
249Phosphoserine(CK1)HMM predict
270SerineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_024310
  • Location:chr19 34847802-34858203
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
KLF4 hESGSE17917 34833841 34834020 179 13872
Oct1 HelaGSE14283 34840222 34840260 38 7562
p130 shRbQuiescentGSE19898 34845447 34845909 462 2125
p130 shRbSenescentGSE19898 34844921 34845124 203 2780
p130 shRbSenescentGSE19898 34845642 34845924 282 2020
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 34862240 34864514 2274 5174
FOXA1 MCF7GSE15244 34868141 34868494 353 10114
Oct1 H2O2-HelaGSE14283 34861775 34861813 38 3591
Oct1 HelaGSE14283 34861777 34861813 36 3592
hScc1 BcellGSE12603 34861361 34861691 330 3323
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 34847772 34848276 504 0
CTCF G2GSE9613 34851512 34851644 132 0
CTCF G2GSE9613 34857007 34857401 394 0
FOXA1 MCF7GSE15244 34854013 34855581 1568 0
Rb QuiescentGSE19898 34849563 34849806 243 0
hScc1 BcellGSE12603 34847772 34848788 1016 0
hScc1 BcellGSE12603 34849459 34850037 578 0
hScc1 BcellGSE12603 34856645 34857372 727 0
hScc1 BcellGSE12603 34857764 34858098 334 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