AutismKB 2.0

Annotation Detail for CLCN7


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Basic Information Top
Gene Symbol:CLCN7 ( CLC-7,CLC7,FLJ26686,FLJ39644,FLJ46423,OPTA2,OPTB4 )
Gene Full Name: chloride channel 7
Band: 16p13.3
Quick LinksEntrez ID:1186; OMIM: 602727; Uniprot ID:CLCN7_HUMAN; ENSEMBL ID: ENSG00000103249; HGNC ID: 2025
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 body4 / 7076156
blastocyst5 / 6231980
fetus22 / 56401239
neonate1 / 3109732
infant0 / 236200 
juvenile7 / 55556125
adult138 / 193912171
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma3 / 17475171
breast (mammary gland) tumor8 / 9417884
cervical tumor2 / 3436658
chondrosarcoma9 / 82823108
colorectal tumor4 / 11424635
esophageal tumor1 / 1729057
gastrointestinal tumor9 / 11936975
germ cell tumor38 / 263845144
glioma10 / 10688393
head and neck tumor14 / 136302102
kidney tumor5 / 6895972
leukemia54 / 95842563
liver tumor3 / 9635931
lung tumor4 / 10312738
lymphoma1 / 7175513
non-neoplasia9 / 9725092
normal254 / 336030775
ovarian tumor0 / 766820 
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS22 / 125680175
prostate cancer4 / 10268038
retinoblastoma4 / 4635686
skin tumor34 / 124949272
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites0 / 400150 
bladder3 / 29757100
blood12 / 12347897
bone5 / 7165569
bone marrow36 / 48801737
brain141 / 1100989128
cervix8 / 48171166
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue11 / 21572250
esophagus1 / 2020949
eye31 / 211054146
heart1 / 8962611
intestine28 / 234472119
kidney19 / 21177789
larynx1 / 2414541
liver5 / 20774324
lung19 / 33697456
lymph1 / 4427022
lymph node37 / 91610403
mammary gland10 / 15327165
mouth10 / 67052149
muscle3 / 10771527
nerve3 / 15768190
ovary5 / 10205148
pancreas11 / 21481251
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta14 / 28082549
prostate16 / 18934584
salivary gland0 / 201550 
skin42 / 210574199
spleen6 / 53952111
stomach1 / 9661910
testis57 / 330442172
thymus18 / 81131221
thyroid4 / 4747384
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord0 / 136800 
uterus21 / 23287890
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209235_at
Cell line Expression level Expression bar
721_B_lymphoblasts38.05
Adipocyte52.75
AdrenalCortex105.75
Adrenalgland76.45
Amygdala37.85
Appendix61.75
AtrioventricularNode49.85
BDCA4+_DentriticCells56.65
Bonemarrow90.45
BronchialEpithelialCells15.45
CD105+_Endothelial42.2
CD14+_Monocytes106.2
CD19+_BCells(neg._sel.)56.9
CD33+_Myeloid122.15
CD34+55.95
CD4+_Tcells65.95
CD56+_NKCells56.7
CD71+_EarlyErythroid20.75
CD8+_Tcells49.4
CardiacMyocytes30.3
Caudatenucleus43.8
Cerebellum75.95
CerebellumPeduncles74.05
CiliaryGanglion35.3
CingulateCortex59
Colorectaladenocarcinoma29.45
DorsalRootGanglion46.15
FetalThyroid40.55
Fetalbrain46.7
Fetalliver27.4
Fetallung32.3
GlobusPallidus103.15
Heart55.15
Hypothalamus47.4
Kidney90.8
Leukemia_chronicMyelogenousK-56255.5
Leukemia_promyelocytic-HL-6038.05
Leukemialymphoblastic(MOLT-4)44.4
Liver40.65
Lung60.85
Lymphnode75.7
Lymphoma_burkitts(Daudi)51.3
Lymphoma_burkitts(Raji)92.45
MedullaOblongata49.35
OccipitalLobe44.25
OlfactoryBulb49.1
Ovary22.05
Pancreas21.1
PancreaticIslet29.65
ParietalLobe56.65
Pituitary72.75
Placenta49.05
Pons62.55
PrefrontalCortex56.65
Prostate44.05
Salivarygland29.35
SkeletalMuscle91.4
Skin34.35
SmoothMuscle26.9
Spinalcord71.85
SubthalamicNucleus89.45
SuperiorCervicalGanglion58.95
TemporalLobe43.75
Testis49.1
TestisGermCell36.95
TestisIntersitial41.85
TestisLeydigCell41.75
TestisSeminiferousTubule62.45
Thalamus47.35
Thymus46.95
Thyroid57.25
Tongue41.4
Tonsil64.65
Trachea50.25
TrigeminalGanglion60.25
Uterus25.4
UterusCorpus40.15
WholeBlood31.75
Wholebrain28.45
colon20.7
pineal_day52.14
pineal_night50.94
retina53.9
small_intestine14.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15492_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
Amygdala3.01 ± 0.86
Basal Forebrain2.57 ± 0.61
Basal Part of Pons2.57 ± 0.59
Cerebellar Cortex3.27 ± 0.59
Cerebellar Nuclei2.85 ± 0.69
Claustrum2.87 ± 0.53
Epithalamus3.05 ± 1.38
Frontal Lobe2.88 ± 0.68
Globus Pallidus2.33 ± 0.66
Hypothalamus2.88 ± 0.39
Insula2.95 ± 0.55
Limbic Lobe2.79 ± 0.66
Mesencephalon2.91 ± 0.61
Myelencephalon2.83 ± 0.63
Occipital Lobe2.85 ± 0.77
Parietal Lobe2.77 ± 0.7
Pontine Tegmentum2.88 ± 0.69
Striatum2.6 ± 0.65
Subthalamus2.76 ± 0.71
Temporal Lobe2.92 ± 0.65
Thalamus2.8 ± 0.6
White Matter2.55 ± 0.78
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Clcn7CBCerebellum27.66
30.47
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00043042 26 56 81 VGHMSSVELDDELLDPDMDPPHPFPK 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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