AutismKB 2.0

Annotation Detail for PGAP1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PGAP1 ( Bst1,FLJ42774,ISPD3024 )
Gene Full Name: post-GPI attachment to proteins 1
Band: 2q33.1
Quick LinksEntrez ID:80055; OMIM: 611655; Uniprot ID:PGAP1_HUMAN; ENSEMBL ID: ENSG00000197121; HGNC ID: 25712
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
402N-linked (GlcNAc...) (Potential).
558N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
402N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
48Phosphotyrosine(EGFR)HMM predict
69SulfotyrosineHMM predict
234N-linkedHMM predict
355Phosphoserine(PKG)HMM predict
402N-linkedHMM predict
425Phosphotyrosine(Jak)HMM predict
464Phosphotyrosine(EGFR)HMM predict
502Phosphotyrosine(EGFR)HMM predict
522Phosphoserine(CK1)HMM predict
558N-linkedHMM predict
559N-linkedHMM predict
637Phosphotyrosine(Syk)HMM predict
719Phosphoserine(PKC)HMM predict
787Phosphoserine(PKA)HMM predict
787Phosphoserine(CK1)HMM predict
798Phosphoserine(CK1)HMM predict
873Phosphoserine(CAMK2)HMM predict
873O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_024989
  • Location:chr2 197405973-197499698
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 197498520 197500902 2382 13
Rb GrowingGSE19898 197499840 197500053 213 248
Rb QuiescentGSE19898 197499771 197500212 441 293
TFAP2C MCF7GSE21234 197499610 197500372 762 293
p130 QuiescentGSE19898 197499802 197500160 358 283
p130 shRbQuiescentGSE19898 197499783 197500147 364 267
p130 shRbSenescentGSE19898 197499773 197500327 554 352
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 197499137 197500202 1065 0
H3ac HepG2E 197497832 197499657 1825 0
PolII HeLaGSE12783 197498526 197500418 1892 0
Rb GrowingGSE19898 197484884 197485089 205 0
Rb QuiescentGSE19898 197498903 197499065 162 0
hScc1 BcellGSE12603 197499343 197500022 679 0
hScc1 G2GSE9613 197498520 197500240 1720 0
p130 shRbSenescentGSE19898 197499503 197499650 147 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