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
Related Pathway Information Top
Pathway IDPathway Name
PWY-841purine nucleotides de novo biosynthesis II
PWY-61215-aminoimidazole ribonucleotide biosynthesis I
Pathway IDPathway Name
hsa00230Purine metabolism
hsa01100Metabolic pathways
No data
No data
Pathway IDPathway Name
P02738De novo purine biosynthesis
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of PFAS mRNAdecreases expression 20064835
D004958 Estradiol [Progesterone co-treated with Estradiol] results in decreased expression of PFAS mRNAaffects cotreatment|decreases expression 17404688
D011374 Progesterone [Progesterone co-treated with Estradiol] results in decreased expression of PFAS mRNAaffects cotreatment|decreases expression 17404688
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.5720464547 20127859
MESH:D000230 Adenocarcinoma Estradiol 4.5711473722
MESH:D000236 Adenoma Benzo(a)pyrene 2.886695378
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.7319183758
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 6.2017868700
MESH:D001930 Brain Injuries Progesterone 4.9115665606 15380490 15845082
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8920146248 17474063
MESH:D001943 Breast Neoplasms Estradiol 1.8917289903 18497071 17261762 16675129 14630087 17018787 12948864 19861407
MESH:D001943 Breast Neoplasms Progesterone 1.8917614352 16175315 15562024
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 5.2116111702
MESH:D006528 Carcinoma, Hepatocellular Estradiol 1.7916924424
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1420419170
MESH:D002471 Cell Transformation, Neoplastic Estradiol 3.0618566989
MESH:D003928 Diabetic Nephropathies Estradiol 3.8319279558
MESH:D003929 Diabetic Neuropathies Progesterone 5.1517187935
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 4.3617692515
MESH:D016889 Endometrial Neoplasms Estradiol 3.2511473722 18566989 19148513
MESH:D004715 Endometriosis Progesterone 4.2116134523
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0916530937
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.8520471113
MESH:D006558 Herpes Genitalis Estradiol 5.9015709030
MESH:D019584 Hot Flashes Estradiol 4.6217088409
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 5.0515869954
MESH:D007249 Inflammation Progesterone 2.7915869954
MESH:D007333 Insulin Resistance Estradiol 3.2316627594 16393666
MESH:D007674 Kidney Diseases Estradiol 2.8015618244
MESH:D007680 Kidney Neoplasms Estradiol 3.3615610895
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 1.6914659978 14716833
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 2.1721137059 20195826
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 1.5718569708 17053015 18816296 18520028 20464547 20135361 6695378 20064080 20869020
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.9511408345 11807958 17203775 16891317
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 6.9517203775 11408345
MESH:D020149 Manganese Poisoning Estradiol 5.3519453300
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.5316381670
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.6216810080
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3511141357
MESH:D009389 Neovascularization, Pathologic Estradiol 4.4717289903
MESH:D009421 Nervous System Malformations Estradiol 4.2316427766 11399458
MESH:D010051 Ovarian Neoplasms Estradiol 5.2319401270
MESH:D010051 Ovarian Neoplasms Progesterone 5.2316525653 17393432
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.3720887781
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.0217292933
MESH:D011471 Prostatic Neoplasms Estradiol 3.0216740699
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.9718045962
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.5410029692 19755658
MESH:D013119 Spinal Cord Injuries Progesterone 5.0215862959 16503802
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D013978 Tibial Fractures Estradiol 5.5519048282
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.3117053015
Pathway ID Pathway Name
KEGG:01100 Metabolic pathways
REACT:1698 Metabolism of nucleotides
KEGG:00230 Purine metabolism
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA33205
    • No data
    No data
    Releated drug ID Related drug Name
    PA449789glycine
    PA10090l-glutamine
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00130 - L-Glutamine Dietary supplement;Micronutrient;Non-Essential Amino Acids
    DB00142 - L-Glutamic Acid Dietary supplement;Micronutrient;Non-Essential Amino Acids
    No data
    No data
    No data

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    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


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