AutismKB 2.0

Annotation Detail for EPRS


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Basic Information Top
Gene Symbol:EPRS ( DKFZp313B047,EARS,GLUPRORS,PARS,QARS,QPRS )
Gene Full Name: glutamyl-prolyl-tRNA synthetase
Band: 1q41
Quick LinksEntrez ID:2058; OMIM: 138295; Uniprot ID:SYEP_HUMAN; ENSEMBL ID: ENSG00000136628; HGNC ID: 3418
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 body15 / 70761211
blastocyst8 / 62319128
fetus110 / 564012195
neonate9 / 31097289
infant2 / 2362084
juvenile20 / 55556359
adult298 / 1939121153
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor23 / 127941797
bladder carcinoma1 / 1747557
breast (mammary gland) tumor25 / 94178265
cervical tumor6 / 34366174
chondrosarcoma10 / 82823120
colorectal tumor33 / 114246288
esophageal tumor0 / 172900 
gastrointestinal tumor59 / 119369494
germ cell tumor61 / 263845231
glioma6 / 10688356
head and neck tumor16 / 136302117
kidney tumor15 / 68959217
leukemia24 / 95842250
liver tumor28 / 96359290
lung tumor20 / 103127193
lymphoma13 / 71755181
non-neoplasia5 / 9725051
normal401 / 3360307119
ovarian tumor10 / 76682130
pancreatic tumor16 / 104616152
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer18 / 102680175
retinoblastoma13 / 46356280
skin tumor7 / 12494956
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor15 / 90257166
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland24 / 33197722
ascites20 / 40015499
bladder2 / 2975767
blood19 / 123478153
bone13 / 71655181
bone marrow6 / 48801122
brain104 / 110098994
cervix6 / 48171124
connective tissue17 / 149255113
ear4 / 16212246
embryonic tissue36 / 215722166
esophagus0 / 202090 
eye20 / 21105494
heart7 / 8962678
intestine52 / 234472221
kidney40 / 211777188
larynx1 / 2414541
liver46 / 207743221
lung50 / 336974148
lymph8 / 44270180
lymph node12 / 91610130
mammary gland31 / 153271202
mouth9 / 67052134
muscle20 / 107715185
nerve0 / 157680 
ovary10 / 10205197
pancreas31 / 214812144
parathyroid2 / 2053997
pharynx9 / 41328217
pituitary gland2 / 16585120
placenta18 / 28082564
prostate26 / 189345137
salivary gland1 / 2015549
skin21 / 21057499
spleen3 / 5395255
stomach37 / 96619382
testis49 / 330442148
thymus7 / 8113186
thyroid9 / 47473189
tonsil4 / 16999235
trachea2 / 5241338
umbilical cord6 / 13680438
uterus25 / 232878107
vascular8 / 51780154
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200841_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts83.8
Adipocyte3.6
AdrenalCortex3.75
Adrenalgland3.05
Amygdala3.85
Appendix3.65
AtrioventricularNode2.95
BDCA4+_DentriticCells19.7
Bonemarrow3.55
BronchialEpithelialCells23.3
CD105+_Endothelial15.55
CD14+_Monocytes3.9
CD19+_BCells(neg._sel.)4.9
CD33+_Myeloid9.1
CD34+12.95
CD4+_Tcells15.4
CD56+_NKCells10.5
CD71+_EarlyErythroid3.45
CD8+_Tcells12
CardiacMyocytes9.75
Caudatenucleus3.25
Cerebellum2.9
CerebellumPeduncles4.1
CiliaryGanglion2.55
CingulateCortex3.7
Colorectaladenocarcinoma3.65
DorsalRootGanglion2.8
FetalThyroid3.5
Fetalbrain3.6
Fetalliver3.15
Fetallung2.95
GlobusPallidus2.7
Heart4.55
Hypothalamus3.95
Kidney2.9
Leukemia_chronicMyelogenousK-5623.3
Leukemia_promyelocytic-HL-603.7
Leukemialymphoblastic(MOLT-4)2.9
Liver4.75
Lung3.95
Lymphnode3.05
Lymphoma_burkitts(Daudi)4.6
Lymphoma_burkitts(Raji)5.1
MedullaOblongata3.35
OccipitalLobe3.85
OlfactoryBulb2.85
Ovary2.4
Pancreas2.9
PancreaticIslet3.9
ParietalLobe3.85
Pituitary4.25
Placenta3.7
Pons3.4
PrefrontalCortex4.5
Prostate4.2
Salivarygland2.9
SkeletalMuscle4.15
Skin2.75
SmoothMuscle8.2
Spinalcord3.9
SubthalamicNucleus3.3
SuperiorCervicalGanglion4.05
TemporalLobe3.3
Testis3.1
TestisGermCell2.95
TestisIntersitial3.05
TestisLeydigCell3.55
TestisSeminiferousTubule3.1
Thalamus3.65
Thymus2.8
Thyroid4.5
Tongue3.55
Tonsil3.55
Trachea3
TrigeminalGanglion3.7
Uterus2.9
UterusCorpus3.25
WholeBlood3.95
Wholebrain3.05
colon3.7
pineal_day4.94
pineal_night5.28
retina4.35
small_intestine3.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7838_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
Amygdala7.89 ± 0.29
Basal Forebrain7.99 ± 0.12
Basal Part of Pons8.27 ± 0.12
Cerebellar Cortex8.19 ± 0.17
Cerebellar Nuclei8.31 ± 0.28
Claustrum7.74 ± 0.36
Epithalamus8.09 ± 0.31
Frontal Lobe8.21 ± 0.27
Globus Pallidus7.93 ± 0.14
Hypothalamus8.34 ± 0.16
Insula8.17 ± 0.25
Limbic Lobe7.86 ± 0.36
Mesencephalon8.13 ± 0.37
Myelencephalon8 ± 0.33
Occipital Lobe7.8 ± 0.37
Parietal Lobe8.06 ± 0.31
Pontine Tegmentum8.02 ± 0.26
Striatum7.69 ± 0.24
Subthalamus8.11 ± 0.32
Temporal Lobe8.05 ± 0.27
Thalamus8.07 ± 0.26
White Matter8.41 ± 0.23
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
EprsCBCerebellum30.44
56.37
EprsCTXCerebral cortex79.17
65.38
EprsHIPHippocampal region49.65
77.31
EprsHPFHippocampal formation55.72
67.73
EprsHYHypothalamus52.92
45.22
EprsLSXLateral septal complex46.65
35.33
EprsMBMidbrain58.15
58.5
EprsMYMedulla65.39
85.63
EprsOLFOlfactory bulb73.73
65.98
EprsPPons56.87
70.75
EprsPALPallidum52.94
53.55
EprsRHPRetrohippocampal region65.17
54.87
EprssAMYStriatum-like amygdalar nuclei52.83
41.86
EprsSTRStriatum57.57
44.55
EprsSTRdStriatum dorsal region60.21
47.37
EprsSTRvStriatum ventral region58.66
42.76
EprsTHThalamus73.11
69.78
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000470 19 340 358 AKIDMSSNNGCMRDPTLYR Peptide Atlas
SYEP_HUMAN_1019 15 1019 1033 THVADFAPEVAWVTR PRIDE
SYEP_HUMAN_1034 26 1034 1059 SGKTELAEPIAIRPTSETVMYPAYAK PRIDE
SYEP_HUMAN_1035 13 1035 1047 SGKTELAEPIAIR PRIDE
SYEP_HUMAN_1178 15 1178 1192 MFEIVFEDPKIPGEK PRIDE
SYEP_HUMAN_1328 15 1328 1342 LQAILEDIQVTLFTR PRIDE
SYEP_HUMAN_1369 18 1369 1386 IVQIPFCGEIDCEDWIKK PRIDE
SYEP_HUMAN_1391 14 1391 1404 DQDLEPGAPSMGAK PRIDE
SYEP_HUMAN_1392 14 1392 1405 DQDLEPGAPSMGAK PRIDE
SYEP_HUMAN_1405 17 1405 1421 SLCIPFKPLCELQPGAK PRIDE
SYEP_HUMAN_16 21 16 36 LSSCDSFTSTINELNHCLSLR PRIDE
SYEP_HUMAN_163 15 163 177 FDDTNPEKEKEDFEK PRIDE
SYEP_HUMAN_178 28 178 205 VILEDVAMLHIKPDQFTYTSDHFETIMK PRIDE
SYEP_HUMAN_217 12 217 228 AYVDDTPAEQMK PRIDE
SYEP_HUMAN_294 29 294 322 TGNKYNVYPTYDFACPIVDSIEGVTHALR PRIDE
SYEP_HUMAN_298 25 298 322 YNVYPTYDFACPIVDSIEGVTHALR PRIDE
SYEP_HUMAN_307 17 307 323 FACPIVDSIEGVTHALR PRIDE
SYEP_HUMAN_364 23 364 386 KLTWFVNEGLVDGWDDPRFPTVR PRIDE
SYEP_HUMAN_401 10 401 410 QFIAAQGSSR PRIDE
SYEP_HUMAN_441 19 441 459 EVIPVNVPEAQEEMKEVAK PRIDE
SYEP_HUMAN_463 14 463 476 NPEVGLKPVWYSPK PRIDE
SYEP_HUMAN_646 15 646 660 TKVEATKNETSAPFK PRIDE
SYEP_HUMAN_752 14 752 765 SLYDEVAAQGEVVR PRIDE
SYEP_HUMAN_77 17 77 93 WFGFLEAQQAFQSVGTK PRIDE
SYEP_HUMAN_777 12 777 788 INEAVECLLSLK PRIDE
SYEP_HUMAN_830 14 830 843 VLFDKVASQGEVVR PRIDE
SYEP_HUMAN_830 15 830 844 VLFDKVASQGEVVRK PRIDE
SYEP_HUMAN_871 21 871 891 SLIGVEYKPVSATGAEDKDKK PRIDE
SYEP_HUMAN_917 25 917 941 PSKNQGGGLSSSGAGEGQGPKKQTR PRIDE
SYEP_HUMAN_947 15 947 961 KEENLADWYSQVITK 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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