AutismKB 2.0

Annotation Detail for PRPSAP2


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Basic Information Top
Gene Symbol:PRPSAP2 ( MGC117304,MGC126719,MGC126721,PAP41 )
Gene Full Name: phosphoribosyl pyrophosphate synthetase-associated protein 2
Band: 17p11.2
Quick LinksEntrez ID:5636; OMIM: 603762; Uniprot ID:KPRB_HUMAN; ENSEMBL ID: ENSG00000141127; HGNC ID: 9467
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
219Phosphoserine.
227Phosphoserine.
251N6-acetyllysine.
Location(AA) Modifications Resource
227Phosphoserine.Swiss-Prot 53.0
227PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
14N-linkedHMM predict
27Phosphoserine(IKK)HMM predict
28N-linkedHMM predict
83N-linkedHMM predict
189Phosphoserine(CDK)HMM predict
198Phosphoserine(PKG)HMM predict
284Phosphothreonine(PKC)HMM predict
338Phosphothreonine(PKC)HMM predict
354AsparagineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002767
  • Location:chr17 18702216-18775304
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 18699970 18700633 663 1915
NRSF mAbJurkat 18685954 18686411 457 16034
NRSF mAbJurkat 18687282 18687932 650 14610
PHF8 Hs68plusFBSGSE20725 18699742 18700688 946 2002
Rb GrowingGSE19898 18701838 18702024 186 286
Sox2 hESGSE18292 18700511 18700791 280 1566
USF1 HepG2E 18697177 18697614 437 4821
USF1 HepG2E 18698143 18698862 719 3714
USF1 HepG2E 18699579 18699965 386 2445
USF1 HepG2E 18700391 18700964 573 1539
USF2 HepG2E 18699579 18699965 386 2445
USF2 HepG2E 18700391 18700964 573 1539
hScc1 BcellGSE12603 18701930 18702452 522 26
p130 shRbSenescentGSE19898 18701823 18702123 300 244
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 18779805 18779837 32 4517
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 18702708 18703412 704 0
Oct1 H2O2-HelaGSE14283 18715675 18715703 28 0
hScc1 CdLSGSE12603 18701930 18702634 704 0
hScc1 CdLSGSE12603 18772519 18773087 568 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