AutismKB 2.0

Annotation Detail for PLD1


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Basic Information Top
Gene Symbol:PLD1 ( - )
Gene Full Name: phospholipase D1, phosphatidylcholine-specific
Band: 3q26.31
Quick LinksEntrez ID:5337; OMIM: 602382; Uniprot ID:PLD1_HUMAN; ENSEMBL ID: ENSG00000075651; HGNC ID: 9067
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
629Phosphoserine.
Location(AA) Modifications Resource
240S-palmitoyl cysteine (By similarity).Swiss-Prot 53.0
241S-palmitoyl cysteine (By similarity).Swiss-Prot 53.0
629Phosphoserine.Swiss-Prot 53.0
629PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
42SulfotyrosineHMM predict
47Phosphoserine(ATM)HMM predict
143Phosphothreonine(PKC)HMM predict
209Phosphoserine(ATM)HMM predict
264Phosphotyrosine(INSR)HMM predict
291Phosphothreonine(PKC)HMM predict
301N-linkedHMM predict
495Phosphothreonine(PKA)HMM predict
504Phosphothreonine(PKC)HMM predict
558Phosphoserine(PKA)HMM predict
576Phosphoserine(CK1)HMM predict
578Phosphoserine(CK1)HMM predict
582Phosphoserine(CK1)HMM predict
610Phosphoserine(CK2)HMM predict
673Phosphothreonine(PKA)HMM predict
702N-linkedHMM predict
725Phosphothreonine(PKC)HMM predict
776SulfotyrosineHMM predict
778SulfotyrosineHMM predict
815Phosphotyrosine(SRC)HMM predict
971Phosphoserine(CK1)HMM predict
994N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002662
  • Location:chr3 172801344-172938565
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 172943967 172944432 465 5634
CTCF G2GSE9613 172944787 172944974 187 6315
CTCF G2GSE9613 172946032 172946167 135 7534
CTCF G2GSE9613 172947768 172948101 333 9369
hScc1 BcellGSE12603 172944787 172944934 147 6295
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 172790407 172790549 142 10867
RARA MCF7GSE15244 172794283 172795074 791 6666
TFAP2C MCF7GSE21234 172785538 172786054 516 15549
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 172814512 172815373 861 0
CTCF G2GSE9613 172846898 172847338 440 0
CTCF G2GSE9613 172850653 172850998 345 0
CTCF G2GSE9613 172876922 172877211 289 0
CTCF G2GSE9613 172919581 172919859 278 0
FOXA1 MCF7GSE15244 172818454 172819119 665 0
FOXA1 MCF7GSE15244 172937235 172937837 602 0
Myc K562GSE19551 172841028 172841486 458 0
Myc K562GSE19551 172904542 172904876 334 0
Oct4 hESGSE21916 172919279 172919600 321 0
RARA MCF7GSE15244 172936986 172937837 851 0
TFAP2C MCF7GSE21234 172936876 172937582 706 0
VDR GM10855-stimGSE22484 172856053 172858161 2108 0
hScc1 BcellGSE12603 172812664 172812915 251 0
hScc1 BcellGSE12603 172815004 172815373 369 0
hScc1 CdLSGSE12603 172814807 172815442 635 0
hScc1 CdLSGSE12603 172846865 172847445 580 0
hScc1 G2GSE9613 172846865 172847756 891 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