AutismKB 2.0

Annotation Detail for PLEKHM1


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Basic Information Top
Gene Symbol:PLEKHM1 ( AP162,B2,KIAA0356,OPTB6 )
Gene Full Name: pleckstrin homology domain containing, family M (with RUN domain) member 1
Band: 17q21.31
Quick LinksEntrez ID:9842; OMIM: 611466; Uniprot ID:PKHM1_HUMAN; ENSEMBL ID: ENSG00000225190; HGNC ID: 29017
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
435Phosphoserine (By similarity).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014798
  • Location:chr17 40869048-40923892
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 40934664 40934756 92 10818
CTCF CD4SISSRdata 40934664 40934756 92 10818
CTCF G2GSE9613 40934420 40934903 483 10769
H3ac HepG2E 40924290 40924492 202 499
H3ac HepG2E 40925169 40926357 1188 1871
Oct1 H2O2-HelaGSE14283 40932324 40932356 32 8448
Oct1 HelaGSE14283 40932324 40932355 31 8447
PHF8 HeLaGSE20725 40923349 40924608 1259 86
TFAP2C MCF7GSE21234 40923749 40924704 955 334
USF1 HepG2E 40925169 40926357 1188 1871
hScc1 BcellGSE12603 40934233 40935022 789 10735
hScc1 CdLSGSE12603 40934388 40935301 913 10952
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 40872221 40872782 561 0
CTCF G2GSE9613 40896856 40896990 134 0
CTCF G2GSE9613 40923582 40923950 368 0
FOXA1 MCF7GSE15244 40894782 40895651 869 0
H3K4me2 HCT116GSE10453 40922121 40923447 1326 0
H3K4me3 colorectalcancer 40922266 40923382 1116 0
H3ac HepG2E 40919821 40920984 1163 0
H3ac HepG2E 40922121 40923661 1540 0
Oct1 H2O2-HelaGSE14283 40876167 40876204 37 0
Oct1 H2O2-HelaGSE14283 40904786 40904814 28 0
Oct1 HelaGSE14283 40876167 40876201 34 0
Oct1 HelaGSE14283 40884676 40884723 47 0
PHF8 293TGSE20725 40923497 40924253 756 0
RARA MCF7GSE15244 40870711 40871192 481 0
RARA MCF7GSE15244 40873055 40873451 396 0
RARA MCF7GSE15244 40895164 40895551 387 0
RARA MCF7GSE15244 40901050 40902729 1679 0
RARG MCF7GSE15244 40872521 40873451 930 0
RARG MCF7GSE15244 40895095 40895551 456 0
RARG MCF7GSE15244 40901050 40902729 1679 0
RARG MCF7GSE15244 40919748 40920984 1236 0
RARG MCF7GSE15244 40922693 40923306 613 0
TFAP2C MCF7GSE21234 40901230 40902911 1681 0
hScc1 BcellGSE12603 40872301 40872601 300 0
hScc1 BcellGSE12603 40886941 40887859 918 0
hScc1 BcellGSE12603 40923621 40924032 411 0
hScc1 CdLSGSE12603 40923342 40924436 1094 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-132 hsa-mir-132 17 21329664
hsa-miR-132* hsa-mir-132 17 21329664
hsa-miR-141 hsa-mir-141 12 18483486
hsa-miR-141* hsa-mir-141 12 18483486
hsa-miR-200c hsa-mir-200c 12 18483486
hsa-miR-200c* hsa-mir-200c 12 18483486
hsa-miR-212 hsa-mir-212 17 21329664
No data
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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