AutismKB 2.0

Annotation Detail for CLCN5


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Basic Information Top
Gene Symbol:CLCN5 ( CLC5,CLCK2,DENTS,NPHL1,NPHL2,XLRH,XRN,hCIC-K2,hClC-K2 )
Gene Full Name: chloride channel 5
Band: Xp11.23
Quick LinksEntrez ID:1184; OMIM: 300008; Uniprot ID:CLCN5_HUMAN; ENSEMBL ID: ENSG00000171365; HGNC ID: 2023
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
fetus45 / 56401279
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult61 / 193912131
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor1 / 1142468
esophageal tumor2 / 17290115
gastrointestinal tumor7 / 11936958
germ cell tumor19 / 26384572
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal130 / 336030738
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma3 / 4635664
skin tumor6 / 12494948
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 gland1 / 3319730
ascites2 / 4001549
bladder0 / 297570 
blood4 / 12347832
bone4 / 7165555
bone marrow0 / 488010 
brain8 / 11009897
cervix0 / 481710 
connective tissue1 / 1492556
ear3 / 16212185
embryonic tissue18 / 21572283
esophagus2 / 2020998
eye12 / 21105456
heart1 / 8962611
intestine3 / 23447212
kidney36 / 211777169
larynx0 / 241450 
liver4 / 20774319
lung7 / 33697420
lymph0 / 442700 
lymph node2 / 9161021
mammary gland3 / 15327119
mouth1 / 6705214
muscle4 / 10771537
nerve0 / 157680 
ovary0 / 1020510 
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta7 / 28082524
prostate2 / 18934510
salivary gland0 / 201550 
skin7 / 21057433
spleen2 / 5395237
stomach3 / 9661931
testis20 / 33044260
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206704_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.85
Adipocyte9.95
AdrenalCortex14.6
Adrenalgland8.3
Amygdala7.7
Appendix41.5
AtrioventricularNode16.9
BDCA4+_DentriticCells13.4
Bonemarrow11.25
BronchialEpithelialCells7.6
CD105+_Endothelial11.65
CD14+_Monocytes8.7
CD19+_BCells(neg._sel.)8.1
CD33+_Myeloid9.6
CD34+8.8
CD4+_Tcells7.85
CD56+_NKCells8.7
CD71+_EarlyErythroid8.05
CD8+_Tcells6.55
CardiacMyocytes14.9
Caudatenucleus7.5
Cerebellum8.2
CerebellumPeduncles9.65
CiliaryGanglion11.75
CingulateCortex9.25
Colorectaladenocarcinoma8.35
DorsalRootGanglion10.75
FetalThyroid8.7
Fetalbrain8.15
Fetalliver7.9
Fetallung6.3
GlobusPallidus8.2
Heart18.4
Hypothalamus8.35
Kidney16.05
Leukemia_chronicMyelogenousK-5628.8
Leukemia_promyelocytic-HL-607.35
Leukemialymphoblastic(MOLT-4)5.85
Liver16.7
Lung9.05
Lymphnode6.7
Lymphoma_burkitts(Daudi)10.85
Lymphoma_burkitts(Raji)12.15
MedullaOblongata7.5
OccipitalLobe7.2
OlfactoryBulb9.15
Ovary8.55
Pancreas7.05
PancreaticIslet8.9
ParietalLobe8.7
Pituitary10.15
Placenta7.85
Pons8.9
PrefrontalCortex9.15
Prostate9.6
Salivarygland9.7
SkeletalMuscle18.4
Skin11.4
SmoothMuscle9.35
Spinalcord11.4
SubthalamicNucleus7.7
SuperiorCervicalGanglion19.65
TemporalLobe8.2
Testis7.1
TestisGermCell6.35
TestisIntersitial9.6
TestisLeydigCell11.2
TestisSeminiferousTubule7.95
Thalamus8.3
Thymus5.95
Thyroid9.85
Tongue13.5
Tonsil8.75
Trachea7.95
TrigeminalGanglion16.15
Uterus9.55
UterusCorpus32.25
WholeBlood8.5
Wholebrain6.55
colon7.75
pineal_day10.02
pineal_night9.8
retina9.6
small_intestine7.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_181_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
Amygdala2.91 ± 1.07
Basal Forebrain2.34 ± 0.21
Basal Part of Pons2.27 ± 0.58
Cerebellar Cortex3.3 ± 0.45
Cerebellar Nuclei2.85 ± 0.76
Claustrum3.28 ± 0.89
Epithalamus2.38 ± 0.62
Frontal Lobe2.5 ± 0.76
Globus Pallidus2.9 ± 0.87
Hypothalamus2.81 ± 0.54
Insula2.42 ± 0.77
Limbic Lobe2.5 ± 0.76
Mesencephalon2.72 ± 0.78
Myelencephalon2.65 ± 0.67
Occipital Lobe2.4 ± 0.65
Parietal Lobe2.7 ± 0.92
Pontine Tegmentum2.66 ± 0.8
Striatum2.19 ± 0.6
Subthalamus3.09 ± 0.34
Temporal Lobe2.44 ± 0.71
Thalamus2.67 ± 0.67
White Matter2.5 ± 0.22
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Clcn5CBCerebellum1.59
2.26
Clcn5CTXCerebral cortex1.07
1.14
Clcn5HIPHippocampal region0.42
0.54
Clcn5HPFHippocampal formation0.4
0.43
Clcn5HYHypothalamus8.96
4.69
Clcn5LSXLateral septal complex0.32
0.27
Clcn5MBMidbrain4.45
2.96
Clcn5MYMedulla13.75
12.11
Clcn5OLFOlfactory bulb0.96
0.69
Clcn5PPons11.17
7.73
Clcn5PALPallidum4.08
1.96
Clcn5RHPRetrohippocampal region0.36
0.29
Clcn5sAMYStriatum-like amygdalar nuclei3.53
1.51
Clcn5STRStriatum0.75
0.41
Clcn5STRdStriatum dorsal region0.43
0.28
Clcn5STRvStriatum ventral region0.46
0.29
Clcn5THThalamus2.48
1.47
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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