AutismKB 2.0

Annotation Detail for CLCN6


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Basic Information Top
Gene Symbol:CLCN6 ( CLC-6,KIAA0046 )
Gene Full Name: chloride channel 6
Band: 1p36.22
Quick LinksEntrez ID:1185; OMIM: 602726; Uniprot ID:CLCN6_HUMAN; ENSEMBL ID: ENSG00000011021; HGNC ID: 2024
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
blastocyst1 / 6231916
fetus19 / 56401233
neonate0 / 310970 
infant0 / 236200 
juvenile4 / 5555671
adult60 / 193912130
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor6 / 26384522
glioma6 / 10688356
head and neck tumor7 / 13630251
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal149 / 336030744
ovarian tumor2 / 7668226
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor2 / 9025722
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
blood3 / 12347824
bone0 / 716550 
bone marrow1 / 4880120
brain64 / 110098958
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye8 / 21105437
heart3 / 8962633
intestine6 / 23447225
kidney1 / 2117774
larynx1 / 2414541
liver1 / 2077434
lung4 / 33697411
lymph0 / 442700 
lymph node5 / 9161054
mammary gland5 / 15327132
mouth5 / 6705274
muscle8 / 10771574
nerve3 / 15768190
ovary2 / 10205119
pancreas9 / 21481241
parathyroid2 / 2053997
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta14 / 28082549
prostate4 / 18934521
salivary gland0 / 201550 
skin10 / 21057447
spleen1 / 5395218
stomach2 / 9661920
testis22 / 33044266
thymus3 / 8113136
thyroid0 / 474730 
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus9 / 23287838
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203950_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.3
Adipocyte4.35
AdrenalCortex4.5
Adrenalgland3.7
Amygdala11.45
Appendix4.35
AtrioventricularNode3.25
BDCA4+_DentriticCells6
Bonemarrow4.3
BronchialEpithelialCells4.4
CD105+_Endothelial4.45
CD14+_Monocytes4.7
CD19+_BCells(neg._sel.)5.25
CD33+_Myeloid5.8
CD34+5.7
CD4+_Tcells4.85
CD56+_NKCells5.35
CD71+_EarlyErythroid4.1
CD8+_Tcells4.35
CardiacMyocytes5.45
Caudatenucleus4
Cerebellum3.75
CerebellumPeduncles5.05
CiliaryGanglion3
CingulateCortex5.05
Colorectaladenocarcinoma4.45
DorsalRootGanglion3.35
FetalThyroid4.3
Fetalbrain5.65
Fetalliver3.75
Fetallung3.7
GlobusPallidus4.65
Heart5.5
Hypothalamus10.8
Kidney3.55
Leukemia_chronicMyelogenousK-5624.25
Leukemia_promyelocytic-HL-603.95
Leukemialymphoblastic(MOLT-4)3.6
Liver5.75
Lung4.95
Lymphnode3.85
Lymphoma_burkitts(Daudi)5.55
Lymphoma_burkitts(Raji)6.2
MedullaOblongata4.85
OccipitalLobe4.7
OlfactoryBulb3.65
Ovary2.9
Pancreas3.5
PancreaticIslet4.7
ParietalLobe4.75
Pituitary5.1
Placenta4.65
Pons4.6
PrefrontalCortex6.45
Prostate5.3
Salivarygland3.5
SkeletalMuscle4.9
Skin3.3
SmoothMuscle5
Spinalcord5.15
SubthalamicNucleus5.15
SuperiorCervicalGanglion4.9
TemporalLobe4.4
Testis3.8
TestisGermCell3.75
TestisIntersitial3.65
TestisLeydigCell4.35
TestisSeminiferousTubule3.75
Thalamus9.85
Thymus3.5
Thyroid5.65
Tongue4.3
Tonsil4.25
Trachea3.65
TrigeminalGanglion4.3
Uterus3.7
UterusCorpus3.9
WholeBlood4.7
Wholebrain20.5
colon4.4
pineal_day6.78
pineal_night9.42
retina5.425
small_intestine4.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_743_PI416573500
  • 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
Amygdala4.67 ± 0.52
Basal Forebrain5.02 ± 0.38
Basal Part of Pons5.11 ± 0.39
Cerebellar Cortex5.4 ± 0.27
Cerebellar Nuclei4.94 ± 0.34
Claustrum4.72 ± 0.88
Epithalamus5.29 ± 0.39
Frontal Lobe4.99 ± 0.41
Globus Pallidus5 ± 0.33
Hypothalamus5.05 ± 0.67
Insula4.96 ± 0.51
Limbic Lobe4.91 ± 0.45
Mesencephalon5 ± 0.44
Myelencephalon4.99 ± 0.49
Occipital Lobe4.99 ± 0.41
Parietal Lobe4.96 ± 0.42
Pontine Tegmentum4.95 ± 0.53
Striatum4.72 ± 0.42
Subthalamus5.08 ± 0.52
Temporal Lobe5.04 ± 0.39
Thalamus5.05 ± 0.45
White Matter6.25 ± 0.42
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Clcn6CBCerebellum30.68
45.43
Clcn6CTXCerebral cortex68.65
54.95
Clcn6HIPHippocampal region41.4
50.64
Clcn6HPFHippocampal formation48.67
49.76
Clcn6HYHypothalamus42.16
35.41
Clcn6LSXLateral septal complex27.56
23.29
Clcn6MBMidbrain54.84
53.89
Clcn6MYMedulla75.33
88.26
Clcn6OLFOlfactory bulb58.44
49.39
Clcn6PPons60
66.06
Clcn6PALPallidum56.94
58.38
Clcn6RHPRetrohippocampal region64.54
51.39
Clcn6sAMYStriatum-like amygdalar nuclei56.89
44.5
Clcn6STRStriatum32.64
25.34
Clcn6STRdStriatum dorsal region27.73
21.77
Clcn6STRvStriatum ventral region35.22
24.73
Clcn6THThalamus58.28
48.46
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