AutismKB 2.0

Annotation Detail for LLGL2


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Basic Information Top
Gene Symbol:LLGL2 ( HGL,LGL2 )
Gene Full Name: lethal giant larvae homolog 2 (Drosophila)
Band: 17q25.1
Quick LinksEntrez ID:3993; OMIM: NA; Uniprot ID:L2GL2_HUMAN; ENSEMBL ID: ENSG00000073350; HGNC ID: 6629
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 body5 / 7076170
blastocyst6 / 6231996
fetus5 / 5640128
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult103 / 193912153
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) tumor5 / 9417853
cervical tumor2 / 3436658
chondrosarcoma0 / 828230 
colorectal tumor19 / 114246166
esophageal tumor0 / 172900 
gastrointestinal tumor15 / 119369125
germ cell tumor2 / 2638457
glioma1 / 1068839
head and neck tumor9 / 13630266
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor4 / 9635941
lung tumor11 / 103127106
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal128 / 336030738
ovarian tumor4 / 7668252
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer16 / 102680155
retinoblastoma5 / 46356107
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor14 / 90257155
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites7 / 40015174
bladder3 / 29757100
blood7 / 12347856
bone0 / 716550 
bone marrow0 / 488010 
brain10 / 11009899
cervix2 / 4817141
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue12 / 21572255
esophagus1 / 2020949
eye12 / 21105456
heart0 / 896260 
intestine35 / 234472149
kidney11 / 21177751
larynx0 / 241450 
liver5 / 20774324
lung22 / 33697465
lymph1 / 4427022
lymph node0 / 916100 
mammary gland5 / 15327132
mouth4 / 6705259
muscle3 / 10771527
nerve0 / 157680 
ovary7 / 10205168
pancreas43 / 214812200
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta13 / 28082546
prostate19 / 189345100
salivary gland0 / 201550 
skin2 / 2105749
spleen2 / 5395237
stomach12 / 96619124
testis7 / 33044221
thymus1 / 8113112
thyroid5 / 47473105
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus15 / 23287864
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203713_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.45
Adipocyte7.2
AdrenalCortex8.7
Adrenalgland6.6
Amygdala8.25
Appendix8.85
AtrioventricularNode6.85
BDCA4+_DentriticCells13.4
Bonemarrow7.9
BronchialEpithelialCells7.8
CD105+_Endothelial8
CD14+_Monocytes8.6
CD19+_BCells(neg._sel.)8.75
CD33+_Myeloid9.8
CD34+15.6
CD4+_Tcells87.85
CD56+_NKCells96.8
CD71+_EarlyErythroid6.85
CD8+_Tcells73.25
CardiacMyocytes10.7
Caudatenucleus7.15
Cerebellum6
CerebellumPeduncles8.9
CiliaryGanglion6.05
CingulateCortex7.45
Colorectaladenocarcinoma85.75
DorsalRootGanglion6.4
FetalThyroid13.6
Fetalbrain7.1
Fetalliver7.05
Fetallung14.5
GlobusPallidus5.85
Heart11.85
Hypothalamus7.75
Kidney11.6
Leukemia_chronicMyelogenousK-5627.2
Leukemia_promyelocytic-HL-606.45
Leukemialymphoblastic(MOLT-4)5.8
Liver28.95
Lung26.5
Lymphnode6.7
Lymphoma_burkitts(Daudi)9.95
Lymphoma_burkitts(Raji)11.8
MedullaOblongata6.55
OccipitalLobe6.6
OlfactoryBulb5.8
Ovary5.45
Pancreas7.5
PancreaticIslet32
ParietalLobe7.8
Pituitary9.5
Placenta8
Pons7.7
PrefrontalCortex8.9
Prostate29.6
Salivarygland11.5
SkeletalMuscle9.85
Skin9.85
SmoothMuscle8.6
Spinalcord8.1
SubthalamicNucleus7
SuperiorCervicalGanglion9.5
TemporalLobe7.1
Testis6.85
TestisGermCell6.25
TestisIntersitial6.2
TestisLeydigCell8.1
TestisSeminiferousTubule6.75
Thalamus7.95
Thymus5.75
Thyroid36.15
Tongue14.8
Tonsil10.45
Trachea6.7
TrigeminalGanglion8.4
Uterus6.7
UterusCorpus7.75
WholeBlood9.7
Wholebrain5.95
colon40.55
pineal_day43.3
pineal_night33.24
retina16.425
small_intestine18.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8453_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
Amygdala2.99 ± 1.11
Basal Forebrain2.77 ± 0.46
Basal Part of Pons2.78 ± 0.93
Cerebellar Cortex3.48 ± 0.46
Cerebellar Nuclei3.16 ± 0.73
Claustrum3.19 ± 0.64
Epithalamus2.71 ± 0.84
Frontal Lobe2.83 ± 0.89
Globus Pallidus3.76 ± 0.81
Hypothalamus2.53 ± 0.84
Insula2.33 ± 0.72
Limbic Lobe2.73 ± 0.76
Mesencephalon2.93 ± 0.77
Myelencephalon2.88 ± 0.71
Occipital Lobe2.89 ± 0.8
Parietal Lobe2.64 ± 0.82
Pontine Tegmentum2.91 ± 0.82
Striatum2.78 ± 0.81
Subthalamus2.85 ± 0.74
Temporal Lobe2.66 ± 0.72
Thalamus2.9 ± 0.8
White Matter5.05 ± 0.36
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Llgl2CBCerebellum22.83
40.36
Llgl2CTXCerebral cortex91.75
78.61
Llgl2HIPHippocampal region58.93
78.55
Llgl2HPFHippocampal formation76.14
88.18
Llgl2HYHypothalamus39.98
30.79
Llgl2LSXLateral septal complex42.86
31.6
Llgl2MBMidbrain24.68
24.84
Llgl2MYMedulla18.8
25.8
Llgl2OLFOlfactory bulb53.66
51.04
Llgl2PPons27.1
32.38
Llgl2PALPallidum28.88
26.16
Llgl2RHPRetrohippocampal region100
100
Llgl2sAMYStriatum-like amygdalar nuclei64.89
44.58
Llgl2STRStriatum46.46
34.1
Llgl2STRdStriatum dorsal region48.83
36.34
Llgl2STRvStriatum ventral region29.96
22.47
Llgl2THThalamus61.62
54.56
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00041574 27 244 270 LLVSCHSDGSYCQWPVSSEAQQPEPLR 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


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