AutismKB 2.0

Annotation Detail for DLG1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:DLG1 ( DKFZp761P0818,DKFZp781B0426,DLGH1,SAP-97,SAP97,dJ1061C18.1.1,hdlg )
Gene Full Name: discs, large homolog 1 (Drosophila)
Band: 3q29
Quick LinksEntrez ID:1739; OMIM: 601014; Uniprot ID:DLG1_HUMAN; ENSEMBL ID: ENSG00000075711; HGNC ID: 2900
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
blastocyst4 / 6231964
fetus44 / 56401278
neonate0 / 310970 
infant3 / 23620127
juvenile1 / 5555617
adult108 / 193912155
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor6 / 11424652
esophageal tumor1 / 1729057
gastrointestinal tumor2 / 11936916
germ cell tumor12 / 26384545
glioma3 / 10688328
head and neck tumor11 / 13630280
kidney tumor4 / 6895958
leukemia7 / 9584273
liver tumor8 / 9635983
lung tumor1 / 1031279
lymphoma5 / 7175569
non-neoplasia4 / 9725041
normal214 / 336030763
ovarian tumor7 / 7668291
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor5 / 12494940
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites0 / 400150 
bladder1 / 2975733
blood2 / 12347816
bone6 / 7165583
bone marrow1 / 4880120
brain47 / 110098942
cervix0 / 481710 
connective tissue4 / 14925526
ear2 / 16212123
embryonic tissue15 / 21572269
esophagus1 / 2020949
eye14 / 21105466
heart3 / 8962633
intestine13 / 23447255
kidney22 / 211777103
larynx2 / 2414582
liver10 / 20774348
lung15 / 33697444
lymph3 / 4427067
lymph node26 / 91610283
mammary gland11 / 15327171
mouth7 / 67052104
muscle8 / 10771574
nerve1 / 1576863
ovary10 / 10205197
pancreas11 / 21481251
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta17 / 28082560
prostate13 / 18934568
salivary gland0 / 201550 
skin7 / 21057433
spleen0 / 539520 
stomach1 / 9661910
testis9 / 33044227
thymus5 / 8113161
thyroid2 / 4747342
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus9 / 23287838
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202515_at
Cell line Expression level Expression bar
721_B_lymphoblasts63.05
Adipocyte28.6
AdrenalCortex29.1
Adrenalgland32.6
Amygdala193
Appendix63.9
AtrioventricularNode23.9
BDCA4+_DentriticCells55.7
Bonemarrow21.4
BronchialEpithelialCells93.25
CD105+_Endothelial53.9
CD14+_Monocytes28.5
CD19+_BCells(neg._sel.)47.75
CD33+_Myeloid70.4
CD34+75.45
CD4+_Tcells62.1
CD56+_NKCells81.1
CD71+_EarlyErythroid20.2
CD8+_Tcells81.3
CardiacMyocytes42.55
Caudatenucleus236.2
Cerebellum64.75
CerebellumPeduncles75.35
CiliaryGanglion15.35
CingulateCortex115.85
Colorectaladenocarcinoma82.1
DorsalRootGanglion21.65
FetalThyroid52.85
Fetalbrain66.25
Fetalliver44.1
Fetallung42.8
GlobusPallidus67.35
Heart19.6
Hypothalamus239.9
Kidney23.3
Leukemia_chronicMyelogenousK-56242.5
Leukemia_promyelocytic-HL-6040.75
Leukemialymphoblastic(MOLT-4)49.6
Liver17.15
Lung7.1
Lymphnode40.75
Lymphoma_burkitts(Daudi)69.25
Lymphoma_burkitts(Raji)61.5
MedullaOblongata165.15
OccipitalLobe187.8
OlfactoryBulb42.3
Ovary27.4
Pancreas39.85
PancreaticIslet48.45
ParietalLobe162.6
Pituitary139.65
Placenta27.9
Pons74.2
PrefrontalCortex335.2
Prostate50.7
Salivarygland46.9
SkeletalMuscle24.35
Skin47.85
SmoothMuscle67.8
Spinalcord174.7
SubthalamicNucleus95.75
SuperiorCervicalGanglion42
TemporalLobe65.95
Testis19.25
TestisGermCell30.55
TestisIntersitial22.85
TestisLeydigCell18.65
TestisSeminiferousTubule26.15
Thalamus115.55
Thymus31
Thyroid169.8
Tongue50.25
Tonsil34.95
Trachea46
TrigeminalGanglion23.45
Uterus67.25
UterusCorpus23.1
WholeBlood26.95
Wholebrain106.35
colon66.45
pineal_day107.84
pineal_night116.06
retina164.025
small_intestine54.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_233_PI416408490
  • 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
Amygdala8.35 ± 0.43
Basal Forebrain8.7 ± 0.2
Basal Part of Pons8.21 ± 0.3
Cerebellar Cortex8.69 ± 0.26
Cerebellar Nuclei8.49 ± 0.33
Claustrum8.54 ± 0.26
Epithalamus8.1 ± 0.52
Frontal Lobe8.28 ± 0.35
Globus Pallidus8.95 ± 0.32
Hypothalamus8.46 ± 0.26
Insula8.19 ± 0.31
Limbic Lobe8.16 ± 0.39
Mesencephalon8.57 ± 0.36
Myelencephalon8.38 ± 0.41
Occipital Lobe8.43 ± 0.34
Parietal Lobe8.42 ± 0.39
Pontine Tegmentum8.51 ± 0.35
Striatum8.53 ± 0.61
Subthalamus8.54 ± 0.17
Temporal Lobe8.37 ± 0.29
Thalamus8.5 ± 0.32
White Matter9.83 ± 0.41
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Dlgh1CBCerebellum79.94
100
Dlgh1CTXCerebral cortex100
100
Dlgh1HIPHippocampal region64.49
98.02
Dlgh1HPFHippocampal formation95.07
100
Dlgh1HYHypothalamus81.1
64.08
Dlgh1LSXLateral septal complex69.18
49.21
Dlgh1MBMidbrain73.57
63.67
Dlgh1MYMedulla67.51
65.83
Dlgh1OLFOlfactory bulb100
100
Dlgh1PPons62.32
58.54
Dlgh1PALPallidum80.39
70.67
Dlgh1RHPRetrohippocampal region100
100
Dlgh1sAMYStriatum-like amygdalar nuclei100
100
Dlgh1STRStriatum100
100
Dlgh1STRdStriatum dorsal region100
100
Dlgh1STRvStriatum ventral region100
100
Dlgh1THThalamus52.56
41.37
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
DLG1_HUMAN_628 18 628 645 QVTPDGESDEVGVIPSKR PRIDE
DLG1_HUMAN_817 16 817 832 LQIAQLYPISIFIKPK PRIDE
PAp00002924 14 825 838 GKHCILDVSGNAIK 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