AutismKB 2.0

Annotation Detail for PCOLCE


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Basic Information Top
Gene Symbol:PCOLCE ( PCPE,PCPE1 )
Gene Full Name: procollagen C-endopeptidase enhancer
Band: 7q22.1
Quick LinksEntrez ID:5118; OMIM: 600270; Uniprot ID:PCOC1_HUMAN; ENSEMBL ID: ENSG00000106333; HGNC ID: 8738
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
29N-linked (GlcNAc...) (Potential).
431N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
29N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
431N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
8Phosphoserine(IKK)HMM predict
27Phosphothreonine(MAPK)HMM predict
29N-linkedHMM predict
47Phosphotyrosine(EGFR)HMM predict
152Phosphoserine(PKB)HMM predict
243Phosphoserine(IKK)HMM predict
260Phosphoserine(CK2)HMM predict
272Phosphothreonine(PKC)HMM predict
288MethylarginineHMM predict
290Phosphothreonine(PKA)HMM predict
290Phosphothreonine(PKC)HMM predict
300Phosphoserine(ATM)HMM predict
311O-linkedHMM predict
373O-linkedHMM predict
431N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002593
  • Location:chr7 100037925-100043728
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
p130 SenescentGSE19898 100037574 100038078 504 100
p130 shRbSenescentGSE19898 100037645 100038098 453 54
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 100038469 100038744 275 0
CTCF G2GSE9613 100039287 100041570 2283 0
Oct1 HelaGSE14283 100039313 100039344 31 0
PHF8 293TGSE20725 100039458 100040592 1134 0
Rb QuiescentGSE19898 100038589 100038743 154 0
Rb SenescentGSE19898 100038452 100038949 497 0
hScc1 BcellGSE12603 100037824 100038050 226 0
hScc1 BcellGSE12603 100040463 100040830 367 0
hScc1 G2GSE9613 100039287 100040862 1575 0
p130 QuiescentGSE19898 100038537 100038869 332 0
p130 SenescentGSE19898 100038292 100038694 402 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