AutismKB 2.0

Annotation Detail for CLDN5


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Basic Information Top
Gene Symbol:CLDN5 ( AWAL,BEC1,CPETRL1,TMVCF )
Gene Full Name: claudin 5
Band: 22q11.21
Quick LinksEntrez ID:7122; OMIM: 602101; Uniprot ID:CLD5_HUMAN; ENSEMBL ID: ENSG00000184113; HGNC ID: 2047
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 body0 / 707610 
blastocyst0 / 623190 
fetus30 / 56401253
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult102 / 193912152
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor13 / 26384549
glioma24 / 106883224
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia7 / 9725071
normal219 / 336030765
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue12 / 13106915
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain95 / 110098986
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye6 / 21105428
heart5 / 8962655
intestine4 / 23447217
kidney5 / 21177723
larynx1 / 2414541
liver0 / 2077430 
lung34 / 336974100
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth3 / 6705244
muscle4 / 10771537
nerve2 / 15768126
ovary2 / 10205119
pancreas14 / 21481265
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta22 / 28082578
prostate17 / 18934589
salivary gland0 / 201550 
skin2 / 2105749
spleen2 / 5395237
stomach0 / 966190 
testis4 / 33044212
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus9 / 23287838
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204482_at
Cell line Expression level Expression bar
721_B_lymphoblasts12.9
Adipocyte29.55
AdrenalCortex44.9
Adrenalgland27.45
Amygdala99.75
Appendix177.3
AtrioventricularNode42.8
BDCA4+_DentriticCells13.25
Bonemarrow38.05
BronchialEpithelialCells9.45
CD105+_Endothelial44.5
CD14+_Monocytes26.3
CD19+_BCells(neg._sel.)15.8
CD33+_Myeloid15.2
CD34+19.45
CD4+_Tcells17.9
CD56+_NKCells14.7
CD71+_EarlyErythroid38.4
CD8+_Tcells12.6
CardiacMyocytes47.6
Caudatenucleus67.55
Cerebellum55.45
CerebellumPeduncles98.85
CiliaryGanglion34.6
CingulateCortex127.5
Colorectaladenocarcinoma13.9
DorsalRootGanglion35.45
FetalThyroid60.1
Fetalbrain72.85
Fetalliver27
Fetallung436.5
GlobusPallidus34.55
Heart128.35
Hypothalamus98.2
Kidney35.9
Leukemia_chronicMyelogenousK-56217.65
Leukemia_promyelocytic-HL-6021.7
Leukemialymphoblastic(MOLT-4)19.35
Liver58.15
Lung1385.8
Lymphnode104.65
Lymphoma_burkitts(Daudi)29.55
Lymphoma_burkitts(Raji)21
MedullaOblongata43.9
OccipitalLobe57.95
OlfactoryBulb150.55
Ovary43.9
Pancreas25.7
PancreaticIslet47.2
ParietalLobe49.65
Pituitary35.15
Placenta48.7
Pons41.05
PrefrontalCortex159.05
Prostate151.1
Salivarygland34.6
SkeletalMuscle48.65
Skin107.05
SmoothMuscle15.15
Spinalcord108.1
SubthalamicNucleus71.3
SuperiorCervicalGanglion35.95
TemporalLobe51.1
Testis17.9
TestisGermCell21.9
TestisIntersitial20.5
TestisLeydigCell35.5
TestisSeminiferousTubule24.65
Thalamus103.4
Thymus38.8
Thyroid265.15
Tongue53.5
Tonsil25.8
Trachea39.35
TrigeminalGanglion41.9
Uterus112.95
UterusCorpus28.7
WholeBlood33.2
Wholebrain78.1
colon39.9
pineal_day160.32
pineal_night167
retina166.225
small_intestine46.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P79300
  • 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
Amygdala5.21 ± 0.49
Basal Forebrain5.71 ± 0.43
Basal Part of Pons5.68 ± 0.59
Cerebellar Cortex5.67 ± 0.62
Cerebellar Nuclei6.02 ± 0.64
Claustrum4.66 ± 0.64
Epithalamus6.17 ± 0.91
Frontal Lobe5.91 ± 0.62
Globus Pallidus6.37 ± 0.32
Hypothalamus5.51 ± 1.05
Insula5.91 ± 0.39
Limbic Lobe5.62 ± 0.72
Mesencephalon5.88 ± 0.82
Myelencephalon5.98 ± 0.67
Occipital Lobe6.08 ± 0.75
Parietal Lobe5.47 ± 0.64
Pontine Tegmentum5.9 ± 0.67
Striatum6.43 ± 0.54
Subthalamus6.04 ± 0.77
Temporal Lobe5.83 ± 0.55
Thalamus6.16 ± 0.58
White Matter6.01 ± 1.12
Mouse Brain ISH
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