AutismKB 2.0

Annotation Detail for HARS2


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Basic Information Top
Gene Symbol:HARS2 ( HARSL,HARSR,HO3 )
Gene Full Name: histidyl-tRNA synthetase 2, mitochondrial (putative)
Band: 5q31.3
Quick LinksEntrez ID:23438; OMIM: 600783; Uniprot ID:SYHM_HUMAN; ENSEMBL ID: ENSG00000112855; HGNC ID: 4817
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 body4 / 7076156
blastocyst3 / 6231948
fetus32 / 56401256
neonate3 / 3109796
infant1 / 2362042
juvenile2 / 5555635
adult96 / 193912149
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) tumor10 / 94178106
cervical tumor2 / 3436658
chondrosarcoma5 / 8282360
colorectal tumor16 / 114246140
esophageal tumor1 / 1729057
gastrointestinal tumor8 / 11936967
germ cell tumor15 / 26384556
glioma9 / 10688384
head and neck tumor3 / 13630222
kidney tumor6 / 6895987
leukemia3 / 9584231
liver tumor5 / 9635951
lung tumor9 / 10312787
lymphoma16 / 71755222
non-neoplasia4 / 9725041
normal203 / 336030760
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS9 / 12568071
prostate cancer0 / 1026800 
retinoblastoma4 / 4635686
skin tumor23 / 124949184
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites4 / 4001599
bladder4 / 29757134
blood8 / 12347864
bone3 / 7165541
bone marrow0 / 488010 
brain83 / 110098975
cervix3 / 4817162
connective tissue12 / 14925580
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus1 / 2020949
eye14 / 21105466
heart3 / 8962633
intestine26 / 234472110
kidney15 / 21177770
larynx1 / 2414541
liver6 / 20774328
lung19 / 33697456
lymph13 / 44270293
lymph node1 / 9161010
mammary gland20 / 153271130
mouth0 / 670520 
muscle3 / 10771527
nerve1 / 1576863
ovary4 / 10205139
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx5 / 41328120
pituitary gland0 / 165850 
placenta16 / 28082556
prostate6 / 18934531
salivary gland2 / 2015599
skin28 / 210574132
spleen4 / 5395274
stomach2 / 9661920
testis14 / 33044242
thymus8 / 8113198
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus23 / 23287898
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209252_at
Cell line Expression level Expression bar
721_B_lymphoblasts27.75
Adipocyte10.8
AdrenalCortex8.7
Adrenalgland7.15
Amygdala9.45
Appendix8.5
AtrioventricularNode6.35
BDCA4+_DentriticCells17.25
Bonemarrow8.2
BronchialEpithelialCells23.4
CD105+_Endothelial8.1
CD14+_Monocytes12.3
CD19+_BCells(neg._sel.)25.55
CD33+_Myeloid11.15
CD34+12.2
CD4+_Tcells36.1
CD56+_NKCells27.05
CD71+_EarlyErythroid7.85
CD8+_Tcells31.3
CardiacMyocytes10.95
Caudatenucleus7.6
Cerebellum6.45
CerebellumPeduncles8.2
CiliaryGanglion6
CingulateCortex7.4
Colorectaladenocarcinoma8.65
DorsalRootGanglion7.65
FetalThyroid8.4
Fetalbrain13.1
Fetalliver5.6
Fetallung7.35
GlobusPallidus6.25
Heart10.05
Hypothalamus12.4
Kidney6.85
Leukemia_chronicMyelogenousK-5629.1
Leukemia_promyelocytic-HL-608.3
Leukemialymphoblastic(MOLT-4)9.9
Liver7.75
Lung9.65
Lymphnode15.55
Lymphoma_burkitts(Daudi)10.95
Lymphoma_burkitts(Raji)11.95
MedullaOblongata7.55
OccipitalLobe7.65
OlfactoryBulb7.35
Ovary5.7
Pancreas6.8
PancreaticIslet9.25
ParietalLobe8.9
Pituitary9.9
Placenta9
Pons6.3
PrefrontalCortex10.95
Prostate10.1
Salivarygland9.7
SkeletalMuscle9.7
Skin7
SmoothMuscle14.05
Spinalcord9.15
SubthalamicNucleus7.7
SuperiorCervicalGanglion9.6
TemporalLobe7.75
Testis7.35
TestisGermCell10.35
TestisIntersitial7.15
TestisLeydigCell11.75
TestisSeminiferousTubule7.4
Thalamus8.55
Thymus7.7
Thyroid11.05
Tongue8.3
Tonsil8.35
Trachea6.9
TrigeminalGanglion13.15
Uterus8.5
UterusCorpus7.3
WholeBlood12.2
Wholebrain7.4
colon9.7
pineal_day10.8
pineal_night10.54
retina10.875
small_intestine8.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7874_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
Amygdala5.07 ± 0.53
Basal Forebrain5.1 ± 0.22
Basal Part of Pons4.87 ± 0.38
Cerebellar Cortex5.21 ± 0.34
Cerebellar Nuclei5.01 ± 0.49
Claustrum4.95 ± 0.66
Epithalamus4.86 ± 0.41
Frontal Lobe4.9 ± 0.41
Globus Pallidus4.85 ± 0.38
Hypothalamus4.93 ± 0.38
Insula5.06 ± 0.31
Limbic Lobe4.99 ± 0.4
Mesencephalon5.08 ± 0.4
Myelencephalon4.98 ± 0.44
Occipital Lobe5.05 ± 0.39
Parietal Lobe4.97 ± 0.37
Pontine Tegmentum4.96 ± 0.44
Striatum4.91 ± 0.44
Subthalamus4.46 ± 0.3
Temporal Lobe5.03 ± 0.41
Thalamus5.01 ± 0.41
White Matter5.36 ± 0.3
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
HarslCBCerebellum0.15
0.54
HarslCTXCerebral cortex0.79
1.01
HarslHIPHippocampal region2.17
1.64
HarslHPFHippocampal formation1.6
1.15
HarslHYHypothalamus0.3
0.61
HarslLSXLateral septal complex0.37
0.46
HarslMBMidbrain0.17
0.41
HarslMYMedulla0.69
1.55
HarslOLFOlfactory bulb3.22
4.32
HarslPPons0.26
0.77
HarslPALPallidum0.41
0.51
HarslRHPRetrohippocampal region0.4
0.35
HarslsAMYStriatum-like amygdalar nuclei0.06
0
HarslSTRStriatum0.29
0.33
HarslSTRdStriatum dorsal region0.12
0.17
HarslSTRvStriatum ventral region0.7
0.61
HarslTHThalamus0.89
0.72
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00002854 15 375 389 GHKVPCVGLSIGVER 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