AutismKB 2.0

Annotation Detail for CLCN2


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Basic Information Top
Gene Symbol:CLCN2 ( CIC-2,CLC2,ECA2,ECA3,EGI11,EGI3,EGMA,EJM6,EJM8 )
Gene Full Name: chloride channel 2
Band: 3q27.1
Quick LinksEntrez ID:1181; OMIM: 600570; Uniprot ID:CLCN2_HUMAN; ENSEMBL ID: ENSG00000114859; HGNC ID: 2020
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 body2 / 7076128
blastocyst1 / 6231916
fetus9 / 56401215
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult19 / 19391219
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor6 / 26384522
glioma0 / 1068830 
head and neck tumor4 / 13630229
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal34 / 336030710
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor2 / 12494916
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 
ascites1 / 4001524
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain6 / 11009895
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine6 / 23447225
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung7 / 33697420
lymph0 / 442700 
lymph node1 / 9161010
mammary gland2 / 15327113
mouth1 / 6705214
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland2 / 2015599
skin2 / 2105749
spleen0 / 539520 
stomach1 / 9661910
testis12 / 33044236
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213499_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.95
Adipocyte5.3
AdrenalCortex5.85
Adrenalgland5.1
Amygdala5.5
Appendix5.3
AtrioventricularNode4.9
BDCA4+_DentriticCells5.35
Bonemarrow5.45
BronchialEpithelialCells5.35
CD105+_Endothelial8.1
CD14+_Monocytes4.95
CD19+_BCells(neg._sel.)5.3
CD33+_Myeloid5.05
CD34+5.65
CD4+_Tcells5.55
CD56+_NKCells5.6
CD71+_EarlyErythroid6.5
CD8+_Tcells4.95
CardiacMyocytes6.65
Caudatenucleus4.75
Cerebellum4.45
CerebellumPeduncles6.1
CiliaryGanglion3.95
CingulateCortex5.5
Colorectaladenocarcinoma11.5
DorsalRootGanglion5.95
FetalThyroid4.5
Fetalbrain5.35
Fetalliver4.8
Fetallung4.1
GlobusPallidus3.85
Heart7.15
Hypothalamus5.95
Kidney4.75
Leukemia_chronicMyelogenousK-5624.8
Leukemia_promyelocytic-HL-604.7
Leukemialymphoblastic(MOLT-4)4.1
Liver7.25
Lung5.6
Lymphnode4.1
Lymphoma_burkitts(Daudi)6.65
Lymphoma_burkitts(Raji)7.45
MedullaOblongata4.75
OccipitalLobe4.7
OlfactoryBulb13.3
Ovary3.65
Pancreas5.15
PancreaticIslet5.8
ParietalLobe5.75
Pituitary7.05
Placenta5.05
Pons4.85
PrefrontalCortex6.35
Prostate6.05
Salivarygland4.3
SkeletalMuscle6.5
Skin4.2
SmoothMuscle6
Spinalcord7.9
SubthalamicNucleus4.95
SuperiorCervicalGanglion6.3
TemporalLobe4.6
Testis6.05
TestisGermCell7.85
TestisIntersitial6.05
TestisLeydigCell5.6
TestisSeminiferousTubule4.8
Thalamus5.35
Thymus4.1
Thyroid6.55
Tongue5.5
Tonsil5.2
Trachea4.45
TrigeminalGanglion5.6
Uterus4.3
UterusCorpus5.7
WholeBlood5.55
Wholebrain4.45
colon8.8
pineal_day6.58
pineal_night6.86
retina7.35
small_intestine5.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14615_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
Amygdala4.48 ± 0.62
Basal Forebrain4.47 ± 0.52
Basal Part of Pons4.32 ± 0.52
Cerebellar Cortex4.72 ± 0.31
Cerebellar Nuclei4.57 ± 0.44
Claustrum4.35 ± 0.84
Epithalamus4.5 ± 0.31
Frontal Lobe4.13 ± 0.52
Globus Pallidus5.12 ± 0.58
Hypothalamus4.12 ± 0.37
Insula3.72 ± 0.49
Limbic Lobe4.2 ± 0.74
Mesencephalon4.53 ± 0.7
Myelencephalon4.43 ± 0.63
Occipital Lobe4.85 ± 0.62
Parietal Lobe4.42 ± 0.73
Pontine Tegmentum4.44 ± 0.58
Striatum4.59 ± 0.78
Subthalamus4.52 ± 0.86
Temporal Lobe4.15 ± 0.61
Thalamus4.7 ± 0.39
White Matter5.73 ± 0.38
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Clcn2CBCerebellum17.41
21.08
Clcn2CTXCerebral cortex73.86
57.72
Clcn2HIPHippocampal region42.7
57.22
Clcn2HPFHippocampal formation55.35
59.8
Clcn2HYHypothalamus13.15
9.1
Clcn2LSXLateral septal complex26.96
16.79
Clcn2MBMidbrain26.65
22.48
Clcn2MYMedulla35.47
33.82
Clcn2OLFOlfactory bulb32.64
25.12
Clcn2PPons31.87
32.11
Clcn2PALPallidum14.17
10.72
Clcn2RHPRetrohippocampal region82.37
71.8
Clcn2sAMYStriatum-like amygdalar nuclei6.85
4.49
Clcn2STRStriatum13.38
8.35
Clcn2STRdStriatum dorsal region10.3
6.36
Clcn2STRvStriatum ventral region23.4
13.97
Clcn2THThalamus16.12
12.87
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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