AutismKB 2.0

Annotation Detail for IARS2


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Basic Information Top
Gene Symbol:IARS2 ( FLJ10326,ILERS )
Gene Full Name: isoleucyl-tRNA synthetase 2, mitochondrial
Band: 1q41
Quick LinksEntrez ID:55699; OMIM: 612801; Uniprot ID:SYIM_HUMAN; ENSEMBL ID: ENSG00000067704; HGNC ID: 29685
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 body6 / 7076184
blastocyst6 / 6231996
fetus39 / 56401269
neonate0 / 310970 
infant3 / 23620127
juvenile3 / 5555653
adult154 / 193912179
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) tumor24 / 94178254
cervical tumor4 / 34366116
chondrosarcoma8 / 8282396
colorectal tumor9 / 11424678
esophageal tumor0 / 172900 
gastrointestinal tumor11 / 11936992
germ cell tumor27 / 263845102
glioma2 / 10688318
head and neck tumor10 / 13630273
kidney tumor5 / 6895972
leukemia8 / 9584283
liver tumor11 / 96359114
lung tumor5 / 10312748
lymphoma0 / 717550 
non-neoplasia8 / 9725082
normal212 / 336030763
ovarian tumor3 / 7668239
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer15 / 102680146
retinoblastoma3 / 4635664
skin tumor6 / 12494948
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor10 / 90257110
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites4 / 4001599
bladder1 / 2975733
blood3 / 12347824
bone11 / 71655153
bone marrow13 / 48801266
brain52 / 110098947
cervix4 / 4817183
connective tissue12 / 14925580
ear0 / 162120 
embryonic tissue19 / 21572288
esophagus0 / 202090 
eye8 / 21105437
heart7 / 8962678
intestine17 / 23447272
kidney16 / 21177775
larynx1 / 2414541
liver22 / 207743105
lung27 / 33697480
lymph0 / 442700 
lymph node20 / 91610218
mammary gland29 / 153271189
mouth8 / 67052119
muscle2 / 10771518
nerve0 / 157680 
ovary4 / 10205139
pancreas0 / 2148120 
parathyroid3 / 20539146
pharynx7 / 41328169
pituitary gland1 / 1658560
placenta12 / 28082542
prostate16 / 18934584
salivary gland2 / 2015599
skin15 / 21057471
spleen3 / 5395255
stomach4 / 9661941
testis35 / 330442105
thymus0 / 811310 
thyroid4 / 4747384
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus18 / 23287877
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217900_at
Cell line Expression level Expression bar
721_B_lymphoblasts750.7
Adipocyte296.75
AdrenalCortex79
Adrenalgland63.4
Amygdala221.45
Appendix51.6
AtrioventricularNode21.7
BDCA4+_DentriticCells310.95
Bonemarrow39.85
BronchialEpithelialCells546.5
CD105+_Endothelial129.95
CD14+_Monocytes218.15
CD19+_BCells(neg._sel.)361
CD33+_Myeloid343.15
CD34+287
CD4+_Tcells303.5
CD56+_NKCells334.9
CD71+_EarlyErythroid16
CD8+_Tcells283.85
CardiacMyocytes150.7
Caudatenucleus63.85
Cerebellum28.65
CerebellumPeduncles74.7
CiliaryGanglion34.15
CingulateCortex79.3
Colorectaladenocarcinoma247.4
DorsalRootGanglion35.15
FetalThyroid84.65
Fetalbrain91.6
Fetalliver116.5
Fetallung103.85
GlobusPallidus40.9
Heart43.2
Hypothalamus209.4
Kidney99.6
Leukemia_chronicMyelogenousK-562271.3
Leukemia_promyelocytic-HL-60377
Leukemialymphoblastic(MOLT-4)134.9
Liver50.25
Lung88.85
Lymphnode121.25
Lymphoma_burkitts(Daudi)305.15
Lymphoma_burkitts(Raji)370.5
MedullaOblongata75.4
OccipitalLobe120.35
OlfactoryBulb73.9
Ovary41.35
Pancreas90.05
PancreaticIslet168.85
ParietalLobe81.75
Pituitary105.45
Placenta238.75
Pons58.75
PrefrontalCortex127.15
Prostate111.15
Salivarygland75.8
SkeletalMuscle80.95
Skin53.85
SmoothMuscle306.6
Spinalcord80.8
SubthalamicNucleus62.95
SuperiorCervicalGanglion25.75
TemporalLobe62.1
Testis127.95
TestisGermCell161.6
TestisIntersitial72.15
TestisLeydigCell100.55
TestisSeminiferousTubule107.05
Thalamus88.75
Thymus81.35
Thyroid239.1
Tongue88.3
Tonsil111.3
Trachea95.55
TrigeminalGanglion23.75
Uterus145.55
UterusCorpus59.65
WholeBlood141.75
Wholebrain75.05
colon344.75
pineal_day454.86
pineal_night384.34
retina161.525
small_intestine222.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16550_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
Amygdala7.16 ± 0.38
Basal Forebrain7.32 ± 0.08
Basal Part of Pons7.52 ± 0.16
Cerebellar Cortex7.1 ± 0.25
Cerebellar Nuclei7.52 ± 0.17
Claustrum7.25 ± 0.3
Epithalamus7.58 ± 0.42
Frontal Lobe7.39 ± 0.27
Globus Pallidus7.55 ± 0.36
Hypothalamus7.39 ± 0.19
Insula7.32 ± 0.17
Limbic Lobe7.24 ± 0.38
Mesencephalon7.31 ± 0.29
Myelencephalon7.25 ± 0.32
Occipital Lobe7.02 ± 0.39
Parietal Lobe7.3 ± 0.26
Pontine Tegmentum7.3 ± 0.33
Striatum7.1 ± 0.29
Subthalamus7.43 ± 0.2
Temporal Lobe7.36 ± 0.28
Thalamus7.27 ± 0.3
White Matter7.91 ± 0.18
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Iars2CBCerebellum6.29
6.54
Iars2CTXCerebral cortex22.82
11.41
Iars2HIPHippocampal region14.38
12.37
Iars2HPFHippocampal formation14.83
10.33
Iars2HYHypothalamus8.25
5.86
Iars2LSXLateral septal complex3.32
2.04
Iars2MBMidbrain8.25
7.04
Iars2MYMedulla15.65
16.12
Iars2OLFOlfactory bulb17.28
9.9
Iars2PPons14.92
13.59
Iars2PALPallidum8.82
6.32
Iars2RHPRetrohippocampal region15.8
8.43
Iars2sAMYStriatum-like amygdalar nuclei3.37
1.72
Iars2STRStriatum3.9
2.41
Iars2STRdStriatum dorsal region3.19
2.01
Iars2STRvStriatum ventral region7.31
4.47
Iars2THThalamus8.78
6.85
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001010 11 91 101 CGFSELYSWQR Peptide Atlas
SYIM_HUMAN_0 0 0 0 YTAESSDTLCPR PRIDE
SYIM_HUMAN_433 12 433 444 AVLEEGTDVVIK PRIDE
SYIM_HUMAN_45 15 45 59 VSGASNHQPNSNSGR PRIDE
SYIM_HUMAN_832 24 832 855 SFAPILPHLAEEVFQHIPYIKEPK PRIDE
SYIM_HUMAN_992 12 992 1003 YTAESSDTLCPR 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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