AutismKB 2.0

Annotation Detail for GEM


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Basic Information Top
Gene Symbol:GEM ( KIR,MGC26294 )
Gene Full Name: GTP binding protein overexpressed in skeletal muscle
Band: 8q22.1
Quick LinksEntrez ID:2669; OMIM: 600164; Uniprot ID:GEM_HUMAN; ENSEMBL ID: ENSG00000164949; HGNC ID: 4234
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 body0 / 707610 
blastocyst1 / 6231916
fetus10 / 56401217
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult73 / 193912137
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma8 / 8282396
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor14 / 119369117
germ cell tumor9 / 26384534
glioma5 / 10688346
head and neck tumor0 / 1363020 
kidney tumor3 / 6895943
leukemia0 / 958420 
liver tumor3 / 9635931
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia9 / 9725092
normal92 / 336030727
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood3 / 12347824
bone4 / 7165555
bone marrow1 / 4880120
brain34 / 110098930
cervix0 / 481710 
connective tissue8 / 14925553
ear1 / 1621261
embryonic tissue1 / 2157224
esophagus1 / 2020949
eye7 / 21105433
heart4 / 8962644
intestine4 / 23447217
kidney13 / 21177761
larynx0 / 241450 
liver4 / 20774319
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas9 / 21481241
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta5 / 28082517
prostate3 / 18934515
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach14 / 96619144
testis6 / 33044218
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord1 / 1368073
uterus8 / 23287834
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204472_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.3
Adipocyte6.55
AdrenalCortex246.9
Adrenalgland23.85
Amygdala9.9
Appendix112.25
AtrioventricularNode7.25
BDCA4+_DentriticCells6.5
Bonemarrow7.25
BronchialEpithelialCells6.3
CD105+_Endothelial6.5
CD14+_Monocytes6.75
CD19+_BCells(neg._sel.)6.65
CD33+_Myeloid7.85
CD34+7.7
CD4+_Tcells6.45
CD56+_NKCells7.3
CD71+_EarlyErythroid6.05
CD8+_Tcells5.85
CardiacMyocytes10.85
Caudatenucleus5.95
Cerebellum6.35
CerebellumPeduncles7.7
CiliaryGanglion15.25
CingulateCortex6.9
Colorectaladenocarcinoma6.55
DorsalRootGanglion8.2
FetalThyroid16.05
Fetalbrain6.9
Fetalliver5.75
Fetallung134.1
GlobusPallidus5.05
Heart10.05
Hypothalamus8.4
Kidney13.1
Leukemia_chronicMyelogenousK-5625.9
Leukemia_promyelocytic-HL-605.65
Leukemialymphoblastic(MOLT-4)5.05
Liver10.75
Lung29.45
Lymphnode52.4
Lymphoma_burkitts(Daudi)8.75
Lymphoma_burkitts(Raji)10.45
MedullaOblongata9.85
OccipitalLobe5.95
OlfactoryBulb5.5
Ovary12.55
Pancreas9.35
PancreaticIslet124.5
ParietalLobe7.35
Pituitary7.85
Placenta6.55
Pons9.55
PrefrontalCortex8.05
Prostate15.3
Salivarygland10.2
SkeletalMuscle31
Skin8.45
SmoothMuscle7.3
Spinalcord11.15
SubthalamicNucleus6.05
SuperiorCervicalGanglion22.1
TemporalLobe6.4
Testis6.2
TestisGermCell15.7
TestisIntersitial5.75
TestisLeydigCell7.4
TestisSeminiferousTubule6.7
Thalamus6.65
Thymus10.4
Thyroid20.7
Tongue13.2
Tonsil15.35
Trachea48.1
TrigeminalGanglion20.95
Uterus218.95
UterusCorpus1365.2
WholeBlood7
Wholebrain5.35
colon98.75
pineal_day22.82
pineal_night24.16
retina131.075
small_intestine91.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_744_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
Amygdala3.8 ± 0.71
Basal Forebrain4.04 ± 0.37
Basal Part of Pons2.41 ± 0.66
Cerebellar Cortex2.54 ± 0.45
Cerebellar Nuclei3.21 ± 0.66
Claustrum3.62 ± 0.74
Epithalamus4.66 ± 0.96
Frontal Lobe3.23 ± 0.8
Globus Pallidus4.74 ± 0.29
Hypothalamus3.2 ± 1.42
Insula2.94 ± 0.58
Limbic Lobe3.19 ± 0.78
Mesencephalon3.57 ± 0.77
Myelencephalon3.27 ± 0.75
Occipital Lobe3.17 ± 0.66
Parietal Lobe3.24 ± 0.72
Pontine Tegmentum3.31 ± 0.73
Striatum4.01 ± 0.76
Subthalamus2.73 ± 0.78
Temporal Lobe2.98 ± 0.85
Thalamus3.1 ± 0.56
White Matter4.09 ± 0.6
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
GemCBCerebellum3.1
3.94
GemCTXCerebral cortex2.89
3.3
GemHIPHippocampal region2.54
2.96
GemHPFHippocampal formation1.94
2.06
GemHYHypothalamus3.46
2.94
GemLSXLateral septal complex1.51
1.35
GemMBMidbrain2.38
3.05
GemMYMedulla8.69
12.92
GemOLFOlfactory bulb5.46
4.44
GemPPons6.26
9.57
GemPALPallidum1.98
1.77
GemRHPRetrohippocampal region1.24
1.12
GemsAMYStriatum-like amygdalar nuclei2.25
2
GemSTRStriatum1.37
1.24
GemSTRdStriatum dorsal region1.06
1.05
GemSTRvStriatum ventral region1.92
1.4
GemTHThalamus2.92
2.73
Peptide Top

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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