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
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body9 / 70761127
blastocyst6 / 6231996
fetus8 / 56401214
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult39 / 193912120
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor2 / 3436658
chondrosarcoma0 / 828230 
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor14 / 26384553
glioma3 / 10688328
head and neck tumor6 / 13630244
kidney tumor3 / 6895943
leukemia2 / 9584220
liver tumor4 / 9635941
lung tumor3 / 10312729
lymphoma3 / 7175541
non-neoplasia0 / 972500 
normal78 / 336030723
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
skin tumor1 / 1249498
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites2 / 4001549
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow1 / 4880120
brain33 / 110098929
cervix2 / 4817141
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue19 / 21572288
esophagus0 / 202090 
eye5 / 21105423
heart0 / 896260 
intestine6 / 23447225
kidney7 / 21177733
larynx0 / 241450 
liver10 / 20774348
lung4 / 33697411
lymph3 / 4427067
lymph node2 / 9161021
mammary gland2 / 15327113
mouth6 / 6705289
muscle7 / 10771564
nerve1 / 1576863
ovary1 / 1020519
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta11 / 28082539
prostate2 / 18934510
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis15 / 33044245
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213302_at
Cell line Expression level Expression bar
721_B_lymphoblasts330.05
Adipocyte10.9
AdrenalCortex12.05
Adrenalgland14.15
Amygdala13.1
Appendix11.85
AtrioventricularNode8.8
BDCA4+_DentriticCells14.7
Bonemarrow15.2
BronchialEpithelialCells10.1
CD105+_Endothelial161.1
CD14+_Monocytes10.85
CD19+_BCells(neg._sel.)14.85
CD33+_Myeloid13.55
CD34+259.6
CD4+_Tcells20.2
CD56+_NKCells13.45
CD71+_EarlyErythroid11.65
CD8+_Tcells28.7
CardiacMyocytes19
Caudatenucleus10.35
Cerebellum14.15
CerebellumPeduncles15.05
CiliaryGanglion8.2
CingulateCortex11.85
Colorectaladenocarcinoma20.9
DorsalRootGanglion8.9
FetalThyroid11.15
Fetalbrain15.45
Fetalliver11.05
Fetallung12.75
GlobusPallidus8.4
Heart14.7
Hypothalamus12.3
Kidney11.8
Leukemia_chronicMyelogenousK-56263.8
Leukemia_promyelocytic-HL-60212.3
Leukemialymphoblastic(MOLT-4)68.05
Liver15.45
Lung13.45
Lymphnode11.1
Lymphoma_burkitts(Daudi)329.5
Lymphoma_burkitts(Raji)24.25
MedullaOblongata10.4
OccipitalLobe11.55
OlfactoryBulb8.65
Ovary7.7
Pancreas9.2
PancreaticIslet12.1
ParietalLobe13.3
Pituitary13.5
Placenta11.7
Pons11.9
PrefrontalCortex13.25
Prostate13.45
Salivarygland9.2
SkeletalMuscle14.05
Skin9.05
SmoothMuscle12.55
Spinalcord12.2
SubthalamicNucleus10.55
SuperiorCervicalGanglion13.15
TemporalLobe10.55
Testis9.85
TestisGermCell9.7
TestisIntersitial9.45
TestisLeydigCell12.6
TestisSeminiferousTubule9.8
Thalamus11.8
Thymus29.45
Thyroid14.2
Tongue12.9
Tonsil15.55
Trachea9.6
TrigeminalGanglion11.75
Uterus9.2
UterusCorpus11.7
WholeBlood10.55
Wholebrain18.95
colon13.6
pineal_day15.94
pineal_night14.78
retina17.275
small_intestine24.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P402610
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala2.98 ± 0.91
Basal Forebrain2.26 ± 0.26
Basal Part of Pons2.32 ± 0.54
Cerebellar Cortex3.08 ± 0.44
Cerebellar Nuclei2.77 ± 0.69
Claustrum2.89 ± 0.57
Epithalamus2.39 ± 0.83
Frontal Lobe2.73 ± 0.71
Globus Pallidus2.04 ± 0.67
Hypothalamus2.64 ± 0.67
Insula2.85 ± 0.64
Limbic Lobe2.51 ± 0.68
Mesencephalon2.76 ± 0.71
Myelencephalon2.62 ± 0.64
Occipital Lobe2.43 ± 0.72
Parietal Lobe2.56 ± 0.63
Pontine Tegmentum2.64 ± 0.7
Striatum1.99 ± 0.69
Subthalamus2.75 ± 0.69
Temporal Lobe2.77 ± 0.66
Thalamus2.52 ± 0.66
White Matter1.87 ± 0.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
PfasCBCerebellum2.29
3.83
PfasCTXCerebral cortex1.27
0.97
PfasHIPHippocampal region4.66
4.37
PfasHPFHippocampal formation3.24
2.87
PfasHYHypothalamus0.26
0.29
PfasLSXLateral septal complex0.37
0.54
PfasMBMidbrain0.71
1.33
PfasMYMedulla5.5
7.33
PfasOLFOlfactory bulb2.51
2.19
PfasPPons0.85
1.05
PfasPALPallidum0.2
0.15
PfasRHPRetrohippocampal region0.75
0.68
PfassAMYStriatum-like amygdalar nuclei0.65
1
PfasSTRStriatum0.48
0.52
PfasSTRdStriatum dorsal region0.42
0.47
PfasSTRvStriatum ventral region0.73
0.58
PfasTHThalamus0.47
0.42
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000627 30 819 848 APGSLVISAYAVCPDITATVTPDLKHPEGR Peptide Atlas
PUR4_HUMAN_1008 12 1008 1019 ALWEETSFQLDR PRIDE
PUR4_HUMAN_1127 11 1127 1137 GWAAAVTFHPR PRIDE
PUR4_HUMAN_1190 6 1190 1195 PGLLLR PRIDE
PUR4_HUMAN_1211 10 1211 1220 VGPGPALMLR PRIDE
PUR4_HUMAN_126 22 126 147 LSFAHPPSAEVEAIALATLHDR PRIDE
PUR4_HUMAN_1291 10 1291 1300 HLAVMPHPER PRIDE
PUR4_HUMAN_2 9 2 10 SPVLHFYVR PRIDE
PUR4_HUMAN_395 11 395 405 FGEPVLAGFAR PRIDE
PUR4_HUMAN_527 14 527 540 ELSDPAGAIIYTSR PRIDE
PUR4_HUMAN_532 10 532 541 PAGAIIYTSR PRIDE
PUR4_HUMAN_59 16 59 74 LMWLFGCPLLLDDVAR PRIDE
PUR4_HUMAN_645 22 645 666 KPPMLQPLALPPGLSVHQALER PRIDE
PUR4_HUMAN_75 18 75 92 ESWLLPGSNDLLLEVGPR PRIDE

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


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