AutismKB 2.0

Annotation Detail for PPL


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Basic Information Top
Gene Symbol:PPL ( KIAA0568,MGC134872 )
Gene Full Name: periplakin
Band: 16p13.3
Quick LinksEntrez ID:5493; OMIM: 602871; Uniprot ID:PEPL_HUMAN; ENSEMBL ID: ENSG00000118898; HGNC ID: 9273
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
14Phosphoserine (By similarity).
1331Phosphoserine.
1579Phosphothreonine.
1657Phosphoserine (By similarity).
Location(AA) Modifications Resource
1331Phosphoserine.Swiss-Prot 53.0
1331PhosphoserinePhospho.ELM 6.0
1579Phosphothreonine.Swiss-Prot 53.0
1579PhosphothreoninePhospho.ELM 6.0
Location(AA) Modification Resource
23Phosphoserine(PKG)HMM predict
125Phosphotyrosine(EGFR)HMM predict
290Phosphoserine(PKG)HMM predict
397Phosphothreonine(CDK)HMM predict
488Phosphotyrosine(Syk)HMM predict
551N-linkedHMM predict
554N-linkedHMM predict
567Phosphothreonine(PKA)HMM predict
580Phosphoserine(IKK)HMM predict
583Phosphothreonine(CDK)HMM predict
684Phosphoserine(IKK)HMM predict
724Phosphoserine(PKG)HMM predict
759Phosphoserine(IKK)HMM predict
759Phosphoserine(CK1)HMM predict
761Phosphoserine(ATM)HMM predict
794Phosphotyrosine(SRC)HMM predict
794Phosphotyrosine(EGFR)HMM predict
794Phosphotyrosine(Abl)HMM predict
992Phosphotyrosine(EGFR)HMM predict
1053Phosphothreonine(CK2)HMM predict
1053Phosphothreonine(PKC)HMM predict
1070SulfotyrosineHMM predict
1113Phosphothreonine(PKC)HMM predict
1126Phosphothreonine(PKC)HMM predict
1137SulfotyrosineHMM predict
1137Phosphotyrosine(Syk)HMM predict
1147Phosphoserine(PKG)HMM predict
1214Phosphoserine(CK2)HMM predict
1331Phosphoserine(PKG)HMM predict
1397Phosphothreonine(PKA)HMM predict
1482Phosphothreonine(PKC)HMM predict
1512Phosphothreonine(CK2)HMM predict
1529Phosphoserine(CK1)HMM predict
1545Phosphoserine(PKG)HMM predict
1552Phosphoserine(CDK)HMM predict
1555PhosphoserineHMM predict
1584Phosphoserine(CAMK2)HMM predict
1598N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002705
  • Location:chr16 4872508-4927136
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 4946170 4946540 370 19219
CTCF CD4SISSRdata 4946170 4946540 370 19219
CTCF JurkatGSE12889 4946133 4946535 402 19198
CTCF G2GSE9613 4933703 4933833 130 6632
CTCF G2GSE9613 4935905 4936063 158 8848
CTCF G2GSE9613 4945971 4946897 926 19298
ER E2-MCF7GSE14664 4940883 4940920 37 13765
ER E2-MCF7GSE14664 4941833 4941865 32 14713
Oct1 HelaGSE14283 4939451 4939501 50 12340
RARA MCF7GSE15244 4935706 4936063 357 8748
RNAII Tamoxifen-MCF7GSE14664 4939450 4939503 53 12340
TAF HelaGSE8489 4937467 4937811 344 10503
TFAP2C MCF7GSE21234 4933062 4933897 835 6343
TFAP2C MCF7GSE21234 4934396 4936394 1998 8259
hScc1 BcellGSE12603 4930756 4931011 255 3747
hScc1 BcellGSE12603 4939601 4939752 151 12540
hScc1 BcellGSE12603 4945971 4946599 628 19149
hScc1 CdLSGSE12603 4945971 4946599 628 19149
hScc1 G2GSE9613 4945971 4946781 810 19240
p130 SenescentGSE19898 4946112 4946468 356 19154
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 4925325 4925884 559 0
CTCF G2GSE9613 4874184 4874601 417 0
CTCF G2GSE9613 4878377 4878547 170 0
CTCF G2GSE9613 4882085 4882371 286 0
CTCF G2GSE9613 4883231 4883619 388 0
CTCF G2GSE9613 4884178 4884630 452 0
CTCF G2GSE9613 4888859 4889106 247 0
CTCF G2GSE9613 4900297 4900597 300 0
CTCF G2GSE9613 4903758 4904103 345 0
CTCF G2GSE9613 4908826 4909156 330 0
CTCF G2GSE9613 4914516 4914883 367 0
CTCF G2GSE9613 4920811 4921049 238 0
CTCF G2GSE9613 4926317 4926823 506 0
ER E2-MCF7GSE14664 4888181 4888214 33 0
ER Fulvestrant-MCF7GSE14664 4888181 4888215 34 0
Fos K562GSE19551 4884772 4885252 480 0
Fos K562GSE19551 4903995 4904519 524 0
Myc K562GSE19551 4876047 4876608 561 0
Oct1 H2O2-HelaGSE14283 4888471 4888498 27 0
Oct1 H2O2-HelaGSE14283 4890570 4890604 34 0
Oct1 H2O2-HelaGSE14283 4923897 4923933 36 0
Oct1 HelaGSE14283 4888188 4888220 32 0
Oct1 HelaGSE14283 4890569 4890604 35 0
Oct1 HelaGSE14283 4904830 4904888 58 0
P300 T30-glioblastomaGSE21026 4925159 4925793 634 0
TFAP2C MCF7GSE21234 4925115 4926155 1040 0
hScc1 BcellGSE12603 4874184 4874637 453 0
hScc1 BcellGSE12603 4926432 4926823 391 0
p130 SenescentGSE19898 4905384 4905757 373 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 18668040
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
hsa-miR-30a hsa-mir-30a 6 18668040
hsa-miR-30a* hsa-mir-30a 6 18668040
hsa-miR-30b hsa-mir-30b 8 18668040
hsa-miR-30b* hsa-mir-30b 8 18668040
hsa-miR-30c hsa-mir-30c-2 6 18668040
hsa-miR-30c hsa-mir-30c-1 1 18668040
hsa-miR-30c-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 18668040
hsa-miR-30d hsa-mir-30d 8 18668040
hsa-miR-30d* hsa-mir-30d 8 18668040
hsa-miR-30e hsa-mir-30e 1 18668040
hsa-miR-30e* hsa-mir-30e 1 18668040
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
987 Unknown pSILAC miR-155 PPL down 50-25% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000118898 n_a n_a n_a epithelium "benign tumour, malignant tumour, carcinoma, sarcoma"
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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