AutismKB 2.0

Annotation Detail for LLGL1


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Basic Information Top
Gene Symbol:LLGL1 ( DLG4,HUGL,HUGL-1,HUGL1,LLGL )
Gene Full Name: lethal giant larvae homolog 1 (Drosophila)
Band: 17p11.2
Quick LinksEntrez ID:3996; OMIM: 600966; Uniprot ID:L2GL1_HUMAN; ENSEMBL ID: ENSG00000131899; HGNC ID: 6628
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
blastocyst4 / 6231964
fetus9 / 56401215
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult218 / 1939121112
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor47 / 119369393
germ cell tumor7 / 26384526
glioma8 / 10688374
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal37 / 336030711
ovarian tumor3 / 7668239
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer3 / 10268029
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites7 / 40015174
bladder0 / 297570 
blood2 / 12347816
bone0 / 716550 
bone marrow4 / 4880181
brain21 / 110098919
cervix2 / 4817141
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye3 / 21105414
heart5 / 8962655
intestine1 / 2344724
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung4 / 33697411
lymph0 / 442700 
lymph node42 / 91610458
mammary gland3 / 15327119
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary4 / 10205139
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate3 / 18934515
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus6 / 23287825
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206124_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.25
Adipocyte8.2
AdrenalCortex9.05
Adrenalgland6.2
Amygdala7.35
Appendix7.8
AtrioventricularNode5.8
BDCA4+_DentriticCells6.9
Bonemarrow7.35
BronchialEpithelialCells7.15
CD105+_Endothelial7.25
CD14+_Monocytes7.65
CD19+_BCells(neg._sel.)7.45
CD33+_Myeloid8.6
CD34+8.85
CD4+_Tcells7.45
CD56+_NKCells8.3
CD71+_EarlyErythroid6.75
CD8+_Tcells6.6
CardiacMyocytes9.5
Caudatenucleus6.45
Cerebellum5.9
CerebellumPeduncles8.45
CiliaryGanglion5.7
CingulateCortex7.65
Colorectaladenocarcinoma7.25
DorsalRootGanglion6.3
FetalThyroid7.15
Fetalbrain7.25
Fetalliver6.3
Fetallung5.75
GlobusPallidus5.45
Heart10
Hypothalamus7.8
Kidney6.7
Leukemia_chronicMyelogenousK-5626.45
Leukemia_promyelocytic-HL-606.4
Leukemialymphoblastic(MOLT-4)5.7
Liver10.8
Lung7.9
Lymphnode6.2
Lymphoma_burkitts(Daudi)9.35
Lymphoma_burkitts(Raji)10.4
MedullaOblongata6.6
OccipitalLobe6.4
OlfactoryBulb5.65
Ovary4.85
Pancreas7.35
PancreaticIslet7.95
ParietalLobe10.6
Pituitary8.45
Placenta7.4
Pons7.9
PrefrontalCortex8.4
Prostate8.4
Salivarygland6
SkeletalMuscle12.4
Skin5.85
SmoothMuscle12.9
Spinalcord7.75
SubthalamicNucleus6.55
SuperiorCervicalGanglion10.85
TemporalLobe6.85
Testis6.3
TestisGermCell5.95
TestisIntersitial6.1
TestisLeydigCell7.35
TestisSeminiferousTubule6.2
Thalamus7.35
Thymus5.65
Thyroid8.9
Tongue7.65
Tonsil7.1
Trachea6.35
TrigeminalGanglion7.75
Uterus5.9
UterusCorpus6.75
WholeBlood7.75
Wholebrain6.25
colon7.3
pineal_day8.74
pineal_night8.44
retina9.625
small_intestine7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8334_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
Amygdala3.44 ± 0.74
Basal Forebrain4.06 ± 0.8
Basal Part of Pons3.76 ± 1.1
Cerebellar Cortex3.51 ± 0.67
Cerebellar Nuclei4.76 ± 0.8
Claustrum3.55 ± 0.46
Epithalamus4.49 ± 0.57
Frontal Lobe3.7 ± 0.76
Globus Pallidus5.5 ± 0.5
Hypothalamus3.49 ± 0.96
Insula3.12 ± 0.86
Limbic Lobe3.6 ± 0.79
Mesencephalon4.02 ± 0.87
Myelencephalon3.92 ± 0.73
Occipital Lobe3.95 ± 0.81
Parietal Lobe3.91 ± 0.83
Pontine Tegmentum3.92 ± 0.81
Striatum4.17 ± 0.75
Subthalamus3.59 ± 0.54
Temporal Lobe3.58 ± 0.72
Thalamus4.07 ± 0.63
White Matter6.7 ± 0.63
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00039716 10 725 734 CLYFADTFLR 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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