AutismKB 2.0

Annotation Detail for PFAS


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Basic Information Top
Gene Symbol:PFAS ( FGAMS,FGARAT,KIAA0361,PURL )
Gene Full Name: phosphoribosylformylglycinamidine synthase
Band: 17p13.1
Quick LinksEntrez ID:5198; OMIM: 602133; Uniprot ID:PUR4_HUMAN; ENSEMBL ID: ENSG00000178921; HGNC ID: 8863
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
569Phosphoserine.
619Phosphothreonine.
623Phosphothreonine.
Location(AA) Modifications Resource
569Phosphoserine.Swiss-Prot 53.0
569PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
45N-linkedHMM predict
95N-linkedHMM predict
100O-linkedHMM predict
121Phosphothreonine(PKC)HMM predict
162Phosphoserine(ATM)HMM predict
165Phosphoserine(IKK)HMM predict
256Phosphoserine(CK1)HMM predict
272N-linkedHMM predict
321O-linkedHMM predict
475N-linkedHMM predict
619Phosphothreonine(CDC2)HMM predict
619Phosphothreonine(MAPK)HMM predict
619O-linkedHMM predict
619Phosphothreonine(CDK)HMM predict
623Phosphothreonine(MAPK)HMM predict
703Phosphothreonine(MAPK)HMM predict
816Phosphothreonine(PKC)HMM predict
822Phosphoserine(IKK)HMM predict
837O-linkedHMM predict
839Phosphothreonine(MAPK)HMM predict
839Phosphothreonine(CDK)HMM predict
1062Phosphoserine(CDC2)HMM predict
1185Phosphoserine(ATM)HMM predict
1237Phosphotyrosine(EGFR)HMM predict
1265N-linkedHMM predict
1275N-linkedHMM predict
1277Phosphoserine(CDC2)HMM predict
1277O-linkedHMM predict
1331N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_012393
  • Location:chr17 8093361-8114527
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PolII HeLaGSE12783 8090880 8094705 3825 569
p130 SenescentGSE19898 8092993 8093703 710 14
p130 shRbQuiescentGSE19898 8092912 8093705 793 53
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 8120632 8120672 40 6125
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 8093409 8093632 223 0
CTCF G2GSE9613 8112666 8113017 351 0
H3K4me2 HCT116GSE10453 8093955 8094692 737 0
H3K4me3 colorectalcancer 8093549 8094100 551 0
H3ac HepG2E 8092912 8094692 1780 0
LIN9 G0GSE7516 8093215 8093839 624 0
LIN9 SGSE7516 8093139 8093876 737 0
RARG MCF7GSE15244 8093409 8094257 848 0
Rb QuiescentGSE19898 8093145 8093679 534 0
Rb SenescentGSE19898 8093223 8093533 310 0
TAF HelaGSE8489 8093517 8094692 1175 0
TAF k562GSE8489 8093517 8094692 1175 0
VDR GM10855-stimGSE22484 8092611 8094286 1675 0
hScc1 BcellGSE12603 8099515 8099783 268 0
hScc1 BcellGSE12603 8110462 8110928 466 0
p130 QuiescentGSE19898 8093120 8093644 524 0
p130 shRbSenescentGSE19898 8093104 8093680 576 0
p130 G0GSE7516 8093215 8093839 624 0
p130 SGSE7516 8093175 8093914 739 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