AutismKB 2.0

Annotation Detail for AARS


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Basic Information Top
Gene Symbol:AARS ( CMT2N )
Gene Full Name: alanyl-tRNA synthetase
Band: 16q22.1
Quick LinksEntrez ID:16; OMIM: 601065; Uniprot ID:SYAC_HUMAN; ENSEMBL ID: ENSG00000090861; HGNC ID: 20
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 body10 / 70761141
blastocyst28 / 62319449
fetus49 / 56401286
neonate1 / 3109732
infant7 / 23620296
juvenile11 / 55556197
adult294 / 1939121151
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor4 / 12794312
bladder carcinoma2 / 17475114
breast (mammary gland) tumor24 / 94178254
cervical tumor26 / 34366756
chondrosarcoma15 / 82823181
colorectal tumor59 / 114246516
esophageal tumor4 / 17290231
gastrointestinal tumor16 / 119369134
germ cell tumor55 / 263845208
glioma15 / 106883140
head and neck tumor29 / 136302212
kidney tumor7 / 68959101
leukemia24 / 95842250
liver tumor11 / 96359114
lung tumor26 / 103127252
lymphoma62 / 71755864
non-neoplasia5 / 9725051
normal278 / 336030782
ovarian tumor6 / 7668278
pancreatic tumor24 / 104616229
primitive neuroectodermal tumor of the CNS30 / 125680238
prostate cancer25 / 102680243
retinoblastoma6 / 46356129
skin tumor38 / 124949304
soft tissue/muscle tissue tumor20 / 125191159
uterine tumor17 / 90257188
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland5 / 33197150
ascites8 / 40015199
bladder1 / 2975733
blood9 / 12347872
bone9 / 71655125
bone marrow25 / 48801512
brain89 / 110098980
cervix26 / 48171539
connective tissue11 / 14925573
ear0 / 162120 
embryonic tissue45 / 215722208
esophagus4 / 20209197
eye43 / 211054203
heart5 / 8962655
intestine71 / 234472302
kidney17 / 21177780
larynx7 / 24145289
liver19 / 20774391
lung45 / 336974133
lymph57 / 442701287
lymph node8 / 9161087
mammary gland25 / 153271163
mouth5 / 6705274
muscle6 / 10771555
nerve3 / 15768190
ovary8 / 10205178
pancreas28 / 214812130
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland5 / 16585301
placenta34 / 280825121
prostate33 / 189345174
salivary gland2 / 2015599
skin42 / 210574199
spleen4 / 5395274
stomach11 / 96619113
testis19 / 33044257
thymus1 / 8113112
thyroid23 / 47473484
tonsil2 / 16999117
trachea0 / 524130 
umbilical cord0 / 136800 
uterus35 / 232878150
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201000_at
Cell line Expression level Expression bar
721_B_lymphoblasts1682.1
Adipocyte350.25
AdrenalCortex189.95
Adrenalgland171.15
Amygdala447.7
Appendix69.3
AtrioventricularNode62.9
BDCA4+_DentriticCells364.2
Bonemarrow219.45
BronchialEpithelialCells582.5
CD105+_Endothelial772.55
CD14+_Monocytes101.2
CD19+_BCells(neg._sel.)139.35
CD33+_Myeloid162.8
CD34+596.2
CD4+_Tcells250.15
CD56+_NKCells262.15
CD71+_EarlyErythroid289.8
CD8+_Tcells239.9
CardiacMyocytes230.9
Caudatenucleus481.6
Cerebellum371.05
CerebellumPeduncles692.5
CiliaryGanglion109.45
CingulateCortex671.6
Colorectaladenocarcinoma353.95
DorsalRootGanglion88.8
FetalThyroid454.1
Fetalbrain293.45
Fetalliver191.25
Fetallung299.45
GlobusPallidus319.95
Heart167.25
Hypothalamus790.5
Kidney179.75
Leukemia_chronicMyelogenousK-5621722.85
Leukemia_promyelocytic-HL-60823.75
Leukemialymphoblastic(MOLT-4)738.7
Liver579.2
Lung452.9
Lymphnode222.85
Lymphoma_burkitts(Daudi)1023.75
Lymphoma_burkitts(Raji)2487
MedullaOblongata581.75
OccipitalLobe569.1
OlfactoryBulb267.55
Ovary85.3
Pancreas256.55
PancreaticIslet388.95
ParietalLobe582.9
Pituitary428.15
Placenta229.95
Pons466.25
PrefrontalCortex797.3
Prostate621.95
Salivarygland184.5
SkeletalMuscle155.7
Skin102.1
SmoothMuscle325.1
Spinalcord499.75
SubthalamicNucleus443.85
SuperiorCervicalGanglion80
TemporalLobe479.8
Testis194.45
TestisGermCell157.5
TestisIntersitial141.2
TestisLeydigCell191.8
TestisSeminiferousTubule156.15
Thalamus567.05
Thymus274.95
Thyroid576.45
Tongue97
Tonsil201.55
Trachea177.55
TrigeminalGanglion118.7
Uterus277.9
UterusCorpus158.15
WholeBlood93.4
Wholebrain908.9
colon197.65
pineal_day814.5
pineal_night810.52
retina569.5
small_intestine246.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P172990
  • 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
Amygdala6.82 ± 0.35
Basal Forebrain6.85 ± 0.3
Basal Part of Pons7.51 ± 0.17
Cerebellar Cortex7.04 ± 0.33
Cerebellar Nuclei7.17 ± 0.29
Claustrum7.31 ± 0.25
Epithalamus6.81 ± 0.41
Frontal Lobe7.19 ± 0.29
Globus Pallidus6.8 ± 0.2
Hypothalamus6.85 ± 0.21
Insula7.06 ± 0.25
Limbic Lobe6.99 ± 0.29
Mesencephalon7.01 ± 0.28
Myelencephalon7.03 ± 0.32
Occipital Lobe6.86 ± 0.27
Parietal Lobe7.11 ± 0.28
Pontine Tegmentum6.95 ± 0.24
Striatum6.7 ± 0.27
Subthalamus7.14 ± 0.48
Temporal Lobe7.1 ± 0.29
Thalamus7.08 ± 0.24
White Matter7.07 ± 0.22
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AarsCBCerebellum52.82
75.65
AarsCTXCerebral cortex87.99
85.46
AarsHIPHippocampal region64.09
81.09
AarsHPFHippocampal formation76.39
82.5
AarsHYHypothalamus72.19
70.74
AarsLSXLateral septal complex53.42
52.8
AarsMBMidbrain72.67
76.11
AarsMYMedulla78.11
91.18
AarsOLFOlfactory bulb87.81
88.16
AarsPPons74.89
85.36
AarsPALPallidum76.34
81.62
AarsRHPRetrohippocampal region86.03
85.92
AarssAMYStriatum-like amygdalar nuclei78.63
77.59
AarsSTRStriatum57.41
55.71
AarsSTRdStriatum dorsal region46.91
45.35
AarsSTRvStriatum ventral region66.91
61.95
AarsTHThalamus87.47
90.63
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000806 13 665 677 AVYTQDCPLAAAK Peptide Atlas
SYAC_HUMAN_0 0 0 0 TITVALADGGRPDNTGR PRIDE
SYAC_HUMAN_1 11 1 11 MDSTLTASEIR PRIDE
SYAC_HUMAN_116 16 116 131 MALELLTQEFGIPIER PRIDE
SYAC_HUMAN_153 12 153 164 QIWQNLGLDDTK PRIDE
SYAC_HUMAN_237 10 237 246 SIDTGMGLER PRIDE
SYAC_HUMAN_282 14 282 295 VGAEDADGIDMAYR PRIDE
SYAC_HUMAN_303 17 303 319 TITVALADGGRPDNTGR PRIDE
SYAC_HUMAN_372 12 372 383 DIINEEEVQFLK PRIDE
SYAC_HUMAN_433 13 433 445 GLVVDMDGFEEER PRIDE
SYAC_HUMAN_550 14 550 563 VDDSSEDKTEFTVK PRIDE
SYAC_HUMAN_569 15 569 583 GGYVLHIGTIYGDLK PRIDE
SYAC_HUMAN_584 13 584 596 VGDQVWLFIDEPR PRIDE
SYAC_HUMAN_59 10 59 68 PSHPMAKLSR PRIDE
SYAC_HUMAN_617 17 617 633 SVLGEADQKGSLVAPDR PRIDE
SYAC_HUMAN_642 9 642 650 GAMSTQQIK PRIDE
SYAC_HUMAN_650 14 650 663 KAEEIANEMIEAAK PRIDE
SYAC_HUMAN_664 13 664 676 AVYTQDCPLAAAK PRIDE
SYAC_HUMAN_683 12 683 694 AVFDETYPDPVR PRIDE
SYAC_HUMAN_684 12 684 695 AVFDETYPDPVR PRIDE
SYAC_HUMAN_729 18 729 746 NSSHAGAFVIVTEEAIAK PRIDE
SYAC_HUMAN_793 23 793 815 EIADLGEALATAVIPQWQKDELR PRIDE
SYAC_HUMAN_793 27 793 819 EIADLGEALATAVIPQWQKDELRETLK PRIDE
SYAC_HUMAN_880 19 880 898 MHSPQTSAMLFTVDNEAGK PRIDE
SYAC_HUMAN_915 15 915 929 ASEWVQQVSGLMDGK PRIDE
SYAC_HUMAN_943 19 943 961 NVGCLQEALQLATSFAQLR PRIDE
SYAC_HUMAN_946 17 946 962 GCLQEALQLATSFAQLR 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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