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
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body2 / 7076128
blastocyst6 / 6231996
fetus34 / 56401260
neonate3 / 3109796
infant6 / 23620254
juvenile4 / 5555671
adult83 / 193912142
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor2 / 9417821
cervical tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor3 / 11424626
esophageal tumor2 / 17290115
gastrointestinal tumor4 / 11936933
germ cell tumor16 / 26384560
glioma4 / 10688337
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor5 / 9635951
lung tumor5 / 10312748
lymphoma5 / 7175569
non-neoplasia10 / 97250102
normal233 / 336030769
ovarian tumor5 / 7668265
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS17 / 125680135
prostate cancer7 / 10268068
retinoblastoma2 / 4635643
skin tumor1 / 1249498
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites0 / 400150 
bladder3 / 29757100
blood4 / 12347832
bone3 / 7165541
bone marrow0 / 488010 
brain100 / 110098990
cervix1 / 4817120
connective tissue7 / 14925546
ear1 / 1621261
embryonic tissue20 / 21572292
esophagus2 / 2020998
eye13 / 21105461
heart1 / 8962611
intestine12 / 23447251
kidney5 / 21177723
larynx0 / 241450 
liver9 / 20774343
lung18 / 33697453
lymph3 / 4427067
lymph node8 / 9161087
mammary gland2 / 15327113
mouth1 / 6705214
muscle8 / 10771574
nerve0 / 157680 
ovary3 / 10205129
pancreas11 / 21481251
parathyroid3 / 20539146
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta7 / 28082524
prostate8 / 18934542
salivary gland1 / 2015549
skin10 / 21057447
spleen5 / 5395292
stomach6 / 9661962
testis25 / 33044275
thymus6 / 8113173
thyroid0 / 474730 
tonsil3 / 16999176
trachea3 / 5241357
umbilical cord2 / 13680146
uterus16 / 23287868
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203537_at
Cell line Expression level Expression bar
721_B_lymphoblasts496.85
Adipocyte13.4
AdrenalCortex14.05
Adrenalgland11.8
Amygdala51.5
Appendix13.05
AtrioventricularNode7.25
BDCA4+_DentriticCells100.7
Bonemarrow15.8
BronchialEpithelialCells25.35
CD105+_Endothelial98.85
CD14+_Monocytes52.4
CD19+_BCells(neg._sel.)152.6
CD33+_Myeloid71.65
CD34+109.6
CD4+_Tcells122.3
CD56+_NKCells132.5
CD71+_EarlyErythroid54.8
CD8+_Tcells119.75
CardiacMyocytes46.6
Caudatenucleus16.2
Cerebellum28.5
CerebellumPeduncles32
CiliaryGanglion7.6
CingulateCortex22.7
Colorectaladenocarcinoma43.45
DorsalRootGanglion12.65
FetalThyroid21.9
Fetalbrain63.1
Fetalliver19.1
Fetallung23.55
GlobusPallidus9.45
Heart14.2
Hypothalamus37.25
Kidney23.6
Leukemia_chronicMyelogenousK-56219.65
Leukemia_promyelocytic-HL-6068.45
Leukemialymphoblastic(MOLT-4)26.8
Liver21.55
Lung34.25
Lymphnode27.2
Lymphoma_burkitts(Daudi)125.05
Lymphoma_burkitts(Raji)149.5
MedullaOblongata18.4
OccipitalLobe26.4
OlfactoryBulb19.1
Ovary10.4
Pancreas22
PancreaticIslet21.9
ParietalLobe29.15
Pituitary57.05
Placenta11.65
Pons16.5
PrefrontalCortex28.55
Prostate36.55
Salivarygland17.15
SkeletalMuscle17.55
Skin11.5
SmoothMuscle26.9
Spinalcord64.85
SubthalamicNucleus22.45
SuperiorCervicalGanglion14.5
TemporalLobe13.8
Testis57.7
TestisGermCell32.5
TestisIntersitial24.7
TestisLeydigCell16.1
TestisSeminiferousTubule25.65
Thalamus23.9
Thymus46.15
Thyroid60.7
Tongue13.9
Tonsil42.4
Trachea18.6
TrigeminalGanglion25.45
Uterus23.15
UterusCorpus12.7
WholeBlood32.05
Wholebrain37.8
colon28.65
pineal_day169.3
pineal_night175.7
retina51.075
small_intestine42.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_776_PI416261804
  • 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
Amygdala5.26 ± 0.6
Basal Forebrain5.55 ± 0.41
Basal Part of Pons5.77 ± 0.54
Cerebellar Cortex6.05 ± 0.34
Cerebellar Nuclei5.51 ± 0.49
Claustrum5.04 ± 1.09
Epithalamus5.74 ± 0.83
Frontal Lobe5.74 ± 0.52
Globus Pallidus5.79 ± 0.29
Hypothalamus5.9 ± 0.69
Insula5.79 ± 0.31
Limbic Lobe5.52 ± 0.57
Mesencephalon5.7 ± 0.49
Myelencephalon5.63 ± 0.5
Occipital Lobe5.13 ± 0.52
Parietal Lobe5.48 ± 0.47
Pontine Tegmentum5.54 ± 0.58
Striatum5.15 ± 0.39
Subthalamus5.35 ± 0.34
Temporal Lobe5.73 ± 0.45
Thalamus5.6 ± 0.53
White Matter7.25 ± 0.24
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Prpsap2CBCerebellum27.24
47.94
Prpsap2CTXCerebral cortex56.58
54.96
Prpsap2HIPHippocampal region32.81
52.34
Prpsap2HPFHippocampal formation39.46
50.11
Prpsap2HYHypothalamus52.57
50.06
Prpsap2LSXLateral septal complex58.49
56.06
Prpsap2MBMidbrain35.84
37.01
Prpsap2MYMedulla54.47
58.31
Prpsap2OLFOlfactory bulb58.17
56.11
Prpsap2PPons53.15
56.22
Prpsap2PALPallidum50.53
50.89
Prpsap2RHPRetrohippocampal region47.67
47.49
Prpsap2sAMYStriatum-like amygdalar nuclei53.78
50.76
Prpsap2STRStriatum53.09
52.32
Prpsap2STRdStriatum dorsal region50.75
50.64
Prpsap2STRvStriatum ventral region57.91
53.7
Prpsap2THThalamus36.16
34.76
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
KPRB_HUMAN_233 17 233 249 SVAAIHPSLEIPMLIPK PRIDE
KPRB_HUMAN_293 16 293 308 IFVMATHGLLSSDAPR PRIDE
PAp00041301 16 121 136 KRGSIVSKLLASMMCK Peptide Atlas

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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