AutismKB 2.0

Annotation Detail for PRSS53


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Basic Information Top
Gene Symbol:PRSS53 ( FLJ00289,POL3S,UNQ308 )
Gene Full Name: protease, serine, 53
Band: 16p11.2
Quick LinksEntrez ID:339105; OMIM: 610561; Uniprot ID:PRS53_HUMAN; ENSEMBL ID: ENSG00000151006; HGNC ID: 34407
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 body0 / 707610 
blastocyst1 / 6231916
fetus4 / 5640127
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult9 / 19391214
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal35 / 336030710
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone3 / 7165541
bone marrow0 / 488010 
brain8 / 11009897
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye5 / 21105423
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung4 / 33697411
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate1 / 1893455
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach2 / 9661920
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214226_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.05
Adipocyte12.2
AdrenalCortex15.5
Adrenalgland10.3
Amygdala12.9
Appendix16.6
AtrioventricularNode9.25
BDCA4+_DentriticCells13.5
Bonemarrow12.05
BronchialEpithelialCells9.75
CD105+_Endothelial12.4
CD14+_Monocytes12.1
CD19+_BCells(neg._sel.)11.8
CD33+_Myeloid13.75
CD34+15.7
CD4+_Tcells13.65
CD56+_NKCells10.65
CD71+_EarlyErythroid11.45
CD8+_Tcells12.4
CardiacMyocytes15.25
Caudatenucleus11
Cerebellum10.1
CerebellumPeduncles16.3
CiliaryGanglion9.5
CingulateCortex19.1
Colorectaladenocarcinoma11.85
DorsalRootGanglion9.75
FetalThyroid12.15
Fetalbrain12.3
Fetalliver10.55
Fetallung10.25
GlobusPallidus9.05
Heart15.45
Hypothalamus13.8
Kidney13
Leukemia_chronicMyelogenousK-56211.1
Leukemia_promyelocytic-HL-6011.05
Leukemialymphoblastic(MOLT-4)9.95
Liver16.1
Lung13.55
Lymphnode10.65
Lymphoma_burkitts(Daudi)16.8
Lymphoma_burkitts(Raji)16.95
MedullaOblongata11.35
OccipitalLobe11.25
OlfactoryBulb11.55
Ovary8.1
Pancreas9.85
PancreaticIslet13.1
ParietalLobe13.35
Pituitary14.4
Placenta12.75
Pons11.65
PrefrontalCortex15.3
Prostate14.3
Salivarygland10.4
SkeletalMuscle19
Skin9.4
SmoothMuscle13.95
Spinalcord14.05
SubthalamicNucleus14.3
SuperiorCervicalGanglion16.45
TemporalLobe14.35
Testis11.45
TestisGermCell10.25
TestisIntersitial10.25
TestisLeydigCell12.1
TestisSeminiferousTubule11.25
Thalamus13.1
Thymus9.75
Thyroid15.35
Tongue18.9
Tonsil11.95
Trachea10.25
TrigeminalGanglion12.1
Uterus10.1
UterusCorpus13.75
WholeBlood13.4
Wholebrain10.4
colon12.35
pineal_day15.7
pineal_night15.1
retina16.225
small_intestine11.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6690_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
Amygdala3.19 ± 1
Basal Forebrain2.65 ± 0.48
Basal Part of Pons3.01 ± 0.71
Cerebellar Cortex2.49 ± 0.59
Cerebellar Nuclei2.83 ± 0.76
Claustrum3.24 ± 0.84
Epithalamus2.18 ± 0.75
Frontal Lobe2.68 ± 0.83
Globus Pallidus2.8 ± 0.68
Hypothalamus2.99 ± 0.82
Insula2.32 ± 0.75
Limbic Lobe2.74 ± 0.7
Mesencephalon2.71 ± 0.89
Myelencephalon2.83 ± 0.72
Occipital Lobe2.88 ± 0.87
Parietal Lobe2.81 ± 0.83
Pontine Tegmentum2.65 ± 0.66
Striatum2.8 ± 0.83
Subthalamus2 ± 0.88
Temporal Lobe2.71 ± 0.76
Thalamus2.74 ± 0.73
White Matter2.85 ± 0.78
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp01419969 8 71 78 WVLTAAHC 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