AutismKB 2.0

Annotation Detail for CLCN3


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Basic Information Top
Gene Symbol:CLCN3 ( CLC3,ClC-3 )
Gene Full Name: chloride channel 3
Band: 4q33
Quick LinksEntrez ID:1182; OMIM: 600580; Uniprot ID:CLCN3_HUMAN; ENSEMBL ID: ENSG00000109572; HGNC ID: 2021
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 body7 / 7076198
blastocyst3 / 6231948
fetus84 / 564012148
neonate1 / 3109732
infant0 / 236200 
juvenile6 / 55556107
adult127 / 193912165
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor5 / 9417853
cervical tumor1 / 3436629
chondrosarcoma3 / 8282336
colorectal tumor13 / 114246113
esophageal tumor2 / 17290115
gastrointestinal tumor4 / 11936933
germ cell tumor20 / 26384575
glioma4 / 10688337
head and neck tumor31 / 136302227
kidney tumor3 / 6895943
leukemia8 / 9584283
liver tumor1 / 9635910
lung tumor5 / 10312748
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal316 / 336030794
ovarian tumor1 / 7668213
pancreatic tumor13 / 104616124
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer6 / 10268058
retinoblastoma1 / 4635621
skin tumor7 / 12494956
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites0 / 400150 
bladder1 / 2975733
blood7 / 12347856
bone1 / 7165513
bone marrow5 / 48801102
brain124 / 1100989112
cervix1 / 4817120
connective tissue5 / 14925533
ear4 / 16212246
embryonic tissue14 / 21572264
esophagus2 / 2020998
eye21 / 21105499
heart5 / 8962655
intestine25 / 234472106
kidney11 / 21177751
larynx0 / 241450 
liver9 / 20774343
lung20 / 33697459
lymph0 / 442700 
lymph node8 / 9161087
mammary gland10 / 15327165
mouth28 / 67052417
muscle6 / 10771555
nerve4 / 15768253
ovary1 / 1020519
pancreas23 / 214812107
parathyroid2 / 2053997
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta16 / 28082556
prostate18 / 18934595
salivary gland0 / 201550 
skin20 / 21057494
spleen0 / 539520 
stomach5 / 9661951
testis24 / 33044272
thymus3 / 8113136
thyroid3 / 4747363
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord1 / 1368073
uterus9 / 23287838
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201735_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts81.2
Adipocyte20.35
AdrenalCortex10.4
Adrenalgland8.95
Amygdala87.25
Appendix17.6
AtrioventricularNode6.4
BDCA4+_DentriticCells45.5
Bonemarrow8.8
BronchialEpithelialCells19
CD105+_Endothelial55.45
CD14+_Monocytes22.5
CD19+_BCells(neg._sel.)23.3
CD33+_Myeloid29.9
CD34+22.4
CD4+_Tcells37.75
CD56+_NKCells29.25
CD71+_EarlyErythroid359.25
CD8+_Tcells23.05
CardiacMyocytes18.95
Caudatenucleus32.55
Cerebellum15.45
CerebellumPeduncles27.7
CiliaryGanglion5.85
CingulateCortex38.05
Colorectaladenocarcinoma19.25
DorsalRootGanglion9.1
FetalThyroid7
Fetalbrain55.1
Fetalliver27.05
Fetallung14.05
GlobusPallidus15.3
Heart10.75
Hypothalamus73.9
Kidney8.1
Leukemia_chronicMyelogenousK-56218.95
Leukemia_promyelocytic-HL-6014.75
Leukemialymphoblastic(MOLT-4)13.8
Liver10.8
Lung9
Lymphnode10.9
Lymphoma_burkitts(Daudi)21.05
Lymphoma_burkitts(Raji)21.2
MedullaOblongata28.15
OccipitalLobe91.75
OlfactoryBulb27.75
Ovary7.35
Pancreas23.4
PancreaticIslet41.25
ParietalLobe54.45
Pituitary45.35
Placenta18.75
Pons17.7
PrefrontalCortex87.8
Prostate26.65
Salivarygland33.9
SkeletalMuscle11.35
Skin5.45
SmoothMuscle23.55
Spinalcord59
SubthalamicNucleus14.65
SuperiorCervicalGanglion11.1
TemporalLobe6.6
Testis9
TestisGermCell52.95
TestisIntersitial10.6
TestisLeydigCell11.5
TestisSeminiferousTubule10.7
Thalamus64.55
Thymus6.25
Thyroid26.15
Tongue8
Tonsil12.3
Trachea17.5
TrigeminalGanglion8.5
Uterus12.35
UterusCorpus9.25
WholeBlood22.4
Wholebrain50.35
colon70.7
pineal_day467.18
pineal_night431.54
retina57.675
small_intestine25.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P402847
  • 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
Amygdala8.57 ± 0.31
Basal Forebrain8.66 ± 0.15
Basal Part of Pons8.63 ± 0.11
Cerebellar Cortex8.46 ± 0.24
Cerebellar Nuclei8.97 ± 0.22
Claustrum8.57 ± 0.32
Epithalamus8.78 ± 0.24
Frontal Lobe8.7 ± 0.29
Globus Pallidus9.26 ± 0.2
Hypothalamus8.8 ± 0.21
Insula8.61 ± 0.22
Limbic Lobe8.54 ± 0.41
Mesencephalon8.72 ± 0.35
Myelencephalon8.65 ± 0.31
Occipital Lobe8.49 ± 0.31
Parietal Lobe8.66 ± 0.3
Pontine Tegmentum8.73 ± 0.28
Striatum8.68 ± 0.19
Subthalamus8.92 ± 0.51
Temporal Lobe8.63 ± 0.27
Thalamus8.74 ± 0.25
White Matter9.85 ± 0.15
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Clcn3CBCerebellum71.1
100
Clcn3CTXCerebral cortex100
100
Clcn3HIPHippocampal region100
100
Clcn3HPFHippocampal formation100
100
Clcn3HYHypothalamus100
100
Clcn3LSXLateral septal complex97.09
89.05
Clcn3MBMidbrain100
100
Clcn3MYMedulla93.85
100
Clcn3OLFOlfactory bulb100
100
Clcn3PPons83.8
100
Clcn3PALPallidum97.75
100
Clcn3RHPRetrohippocampal region100
100
Clcn3sAMYStriatum-like amygdalar nuclei100
100
Clcn3STRStriatum100
100
Clcn3STRdStriatum dorsal region100
100
Clcn3STRvStriatum ventral region100
100
Clcn3THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CLCN3_HUMAN_726 9 726 734 QCLVTHNGR PRIDE
PAp00042332 37 662 698 RNDPPLAVLTQDNMTVDDIENMINETSYNGFPVIMSK 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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