AutismKB 2.0

Annotation Detail for GARS


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Basic Information Top
Gene Symbol:GARS ( CMT2D,DSMAV,GlyRS,HMN5,SMAD1 )
Gene Full Name: glycyl-tRNA synthetase
Band: 7p14.3
Quick LinksEntrez ID:2617; OMIM: 600287; Uniprot ID:SYG_HUMAN; ENSEMBL ID: ENSG00000106105; HGNC ID: 4162
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 body17 / 70761240
blastocyst8 / 62319128
fetus128 / 564012226
neonate29 / 31097932
infant4 / 23620169
juvenile40 / 55556719
adult537 / 1939121276
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor25 / 94178265
cervical tumor33 / 34366960
chondrosarcoma20 / 82823241
colorectal tumor42 / 114246367
esophageal tumor3 / 17290173
gastrointestinal tumor57 / 119369477
germ cell tumor181 / 263845686
glioma68 / 106883636
head and neck tumor16 / 136302117
kidney tumor22 / 68959319
leukemia16 / 95842166
liver tumor43 / 96359446
lung tumor36 / 103127349
lymphoma25 / 71755348
non-neoplasia34 / 97250349
normal857 / 3360307255
ovarian tumor10 / 76682130
pancreatic tumor20 / 104616191
primitive neuroectodermal tumor of the CNS31 / 125680246
prostate cancer26 / 102680253
retinoblastoma27 / 46356582
skin tumor33 / 124949264
soft tissue/muscle tissue tumor41 / 125191327
uterine tumor17 / 90257188
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland6 / 33197180
ascites37 / 40015924
bladder8 / 29757268
blood28 / 123478226
bone20 / 71655279
bone marrow14 / 48801286
brain413 / 1100989375
cervix33 / 48171685
connective tissue84 / 149255562
ear3 / 16212185
embryonic tissue49 / 215722227
esophagus3 / 20209148
eye45 / 211054213
heart15 / 89626167
intestine64 / 234472272
kidney79 / 211777373
larynx3 / 24145124
liver55 / 207743264
lung82 / 336974243
lymph21 / 44270474
lymph node8 / 9161087
mammary gland37 / 153271241
mouth17 / 67052253
muscle26 / 107715241
nerve3 / 15768190
ovary15 / 102051146
pancreas27 / 214812125
parathyroid1 / 2053948
pharynx3 / 4132872
pituitary gland4 / 16585241
placenta41 / 280825145
prostate40 / 189345211
salivary gland0 / 201550 
skin134 / 210574636
spleen21 / 53952389
stomach30 / 96619310
testis106 / 330442320
thymus14 / 81131172
thyroid3 / 4747363
tonsil5 / 16999294
trachea9 / 52413171
umbilical cord1 / 1368073
uterus55 / 232878236
vascular40 / 51780772
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208693_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts2867.45
Adipocyte583.1
AdrenalCortex203.45
Adrenalgland86.6
Amygdala372.85
Appendix127.55
AtrioventricularNode70.25
BDCA4+_DentriticCells432.85
Bonemarrow137.85
BronchialEpithelialCells1394.9
CD105+_Endothelial697.35
CD14+_Monocytes374.35
CD19+_BCells(neg._sel.)454.1
CD33+_Myeloid311.55
CD34+501.55
CD4+_Tcells252.4
CD56+_NKCells378.25
CD71+_EarlyErythroid368.85
CD8+_Tcells258.95
CardiacMyocytes1480.5
Caudatenucleus191.8
Cerebellum123.85
CerebellumPeduncles240.25
CiliaryGanglion91.3
CingulateCortex512.6
Colorectaladenocarcinoma940.65
DorsalRootGanglion143.3
FetalThyroid207.65
Fetalbrain277.1
Fetalliver143.95
Fetallung184.5
GlobusPallidus137.45
Heart55.75
Hypothalamus415.25
Kidney110.75
Leukemia_chronicMyelogenousK-5621458.85
Leukemia_promyelocytic-HL-60954.4
Leukemialymphoblastic(MOLT-4)556.55
Liver42.3
Lung161.8
Lymphnode128.9
Lymphoma_burkitts(Daudi)1710.45
Lymphoma_burkitts(Raji)2073.05
MedullaOblongata261.3
OccipitalLobe237.05
OlfactoryBulb125.55
Ovary99.1
Pancreas423.3
PancreaticIslet239.9
ParietalLobe280.9
Pituitary286
Placenta177.5
Pons239.3
PrefrontalCortex439.75
Prostate176.3
Salivarygland94.4
SkeletalMuscle69.15
Skin104.45
SmoothMuscle1838
Spinalcord148.05
SubthalamicNucleus228.8
SuperiorCervicalGanglion156.9
TemporalLobe261.8
Testis207.9
TestisGermCell430.85
TestisIntersitial374.7
TestisLeydigCell220.3
TestisSeminiferousTubule297.1
Thalamus374.5
Thymus160.5
Thyroid229.55
Tongue205.7
Tonsil321.8
Trachea116.3
TrigeminalGanglion71.3
Uterus123.95
UterusCorpus147.2
WholeBlood145.05
Wholebrain328.05
colon187.35
pineal_day303.08
pineal_night291.52
retina133.725
small_intestine196.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14498_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
Amygdala9.85 ± 0.26
Basal Forebrain9.77 ± 0.32
Basal Part of Pons10.03 ± 0.29
Cerebellar Cortex9.48 ± 0.22
Cerebellar Nuclei9.84 ± 0.39
Claustrum10.35 ± 0.4
Epithalamus9.08 ± 0.51
Frontal Lobe9.82 ± 0.36
Globus Pallidus9.46 ± 0.4
Hypothalamus9.82 ± 0.33
Insula9.73 ± 0.2
Limbic Lobe9.85 ± 0.37
Mesencephalon9.76 ± 0.49
Myelencephalon9.71 ± 0.37
Occipital Lobe9.84 ± 0.27
Parietal Lobe9.85 ± 0.38
Pontine Tegmentum9.78 ± 0.34
Striatum9.54 ± 0.42
Subthalamus9.87 ± 0.05
Temporal Lobe9.79 ± 0.25
Thalamus9.88 ± 0.34
White Matter8.8 ± 0.57
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
GarsCBCerebellum100
100
GarsCTXCerebral cortex100
100
GarsHIPHippocampal region100
100
GarsHPFHippocampal formation100
100
GarsHYHypothalamus100
100
GarsLSXLateral septal complex100
100
GarsMBMidbrain100
100
GarsMYMedulla100
100
GarsOLFOlfactory bulb100
100
GarsPPons100
100
GarsPALPallidum100
100
GarsRHPRetrohippocampal region100
100
GarssAMYStriatum-like amygdalar nuclei100
100
GarsSTRStriatum100
100
GarsSTRdStriatum dorsal region100
100
GarsSTRvStriatum ventral region100
100
GarsTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001389 17 616 632 CSVLPLSQNQEFMPFVK Peptide Atlas
SYG_HUMAN_158 8 158 165 NNIIQTWR PRIDE
SYG_HUMAN_190 14 190 203 TSGHVDKFADFMVK PRIDE
SYG_HUMAN_265 19 265 283 SPITGNDLSPPVSFNLMFK PRIDE
SYG_HUMAN_283 27 283 309 TFIGPGGNMPGYLRPETAQGIFLNFKR PRIDE
SYG_HUMAN_310 21 310 330 LLEFNQGKLPFAAAQIGNSFR PRIDE
SYG_HUMAN_318 13 318 330 LPFAAAQIGNSFR PRIDE
SYG_HUMAN_33 19 33 51 RSLSAASCAPISLPAAASR PRIDE
SYG_HUMAN_344 20 344 363 EFTMAEIEHFVDPSEKDHPK PRIDE
SYG_HUMAN_345 16 345 360 EFTMAEIEHFVDPSEK PRIDE
SYG_HUMAN_345 20 345 364 EFTMAEIEHFVDPSEKDHPK PRIDE
SYG_HUMAN_391 21 391 411 LGDAVEQGVINNTVLGYFIGR PRIDE
SYG_HUMAN_465 10 465 474 SCYDLSCHAR PRIDE
SYG_HUMAN_477 13 477 489 VPLVAEKPLKEPK PRIDE
SYG_HUMAN_490 11 490 500 TVNVVQFEPSK PRIDE
SYG_HUMAN_490 16 490 505 TVNVVQFEPSKGAIGK PRIDE
SYG_HUMAN_55 14 55 68 MDGAGAEEVLAPLR PRIDE
SYG_HUMAN_563 20 563 582 TLYVEEVVPNVIEPSFGLGR PRIDE
SYG_HUMAN_583 13 583 595 IMYTVFEHTFHVR PRIDE
SYG_HUMAN_602 13 602 614 TFFSFPAVVAPFK PRIDE
SYG_HUMAN_696 26 696 721 AEISELPSIVQDLANGNITWADVEAR PRIDE
SYG_HUMAN_93 9 93 101 KAVAELKAR 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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