AutismKB 2.0

Annotation Detail for PORCN


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Basic Information Top
Gene Symbol:PORCN ( DHOF,FODH,MG61,MGC29687,PORC,PPN,por )
Gene Full Name: porcupine homolog (Drosophila)
Band: Xp11.23
Quick LinksEntrez ID:64840; OMIM: 300651; Uniprot ID:PORCN_HUMAN; ENSEMBL ID: ENSG00000102312; HGNC ID: 17652
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
36S-palmitoylHMM predict
39S-palmitoylHMM predict
89S-palmitoylHMM predict
148Phosphothreonine(PKC)HMM predict
158Phosphotyrosine(Jak)HMM predict
430Phosphotyrosine(EGFR)HMM predict
430Phosphotyrosine(SRC)HMM predict
430Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_022825
  • Location:chrX 48252314-48264145
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 48241517 48242223 706 10445
CTCF G2GSE9613 48242464 48242920 456 9623
FOXA1 MCF7GSE15244 48244007 48244339 332 8142
LIN54 SGSE7516 48246088 48246447 359 6047
P300 T30-glioblastomaGSE21026 48241411 48242099 688 10560
PHF8 HeLaGSE20725 48251827 48252754 927 24
hScc1 G2GSE9613 48242464 48242717 253 9724
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 48251998 48253235 1237 0
hScc1 BcellGSE12603 48252038 48253235 1197 0
hScc1 G2GSE9613 48251998 48253235 1237 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