AutismKB 2.0

Annotation Detail for CLDN1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CLDN1 ( CLD1,ILVASC,SEMP1 )
Gene Full Name: claudin 1
Band: 3q28
Quick LinksEntrez ID:9076; OMIM: 603718; Uniprot ID:CLD1_HUMAN; ENSEMBL ID: ENSG00000163347; HGNC ID: 2032
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 body1 / 7076114
blastocyst0 / 623190 
fetus51 / 56401290
neonate0 / 310970 
infant2 / 2362084
juvenile8 / 55556143
adult155 / 193912179
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma5 / 17475286
breast (mammary gland) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma0 / 828230 
colorectal tumor5 / 11424643
esophageal tumor6 / 17290347
gastrointestinal tumor14 / 119369117
germ cell tumor11 / 26384541
glioma0 / 1068830 
head and neck tumor22 / 136302161
kidney tumor5 / 6895972
leukemia1 / 9584210
liver tumor4 / 9635941
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia8 / 9725082
normal186 / 336030755
ovarian tumor3 / 7668239
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites0 / 400150 
bladder23 / 29757772
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain19 / 110098917
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus6 / 20209296
eye14 / 21105466
heart6 / 8962666
intestine5 / 23447221
kidney10 / 21177747
larynx2 / 2414582
liver13 / 20774362
lung24 / 33697471
lymph0 / 442700 
lymph node6 / 9161065
mammary gland44 / 153271287
mouth4 / 6705259
muscle2 / 10771518
nerve1 / 1576863
ovary4 / 10205139
pancreas12 / 21481255
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta25 / 28082589
prostate1 / 1893455
salivary gland0 / 201550 
skin4 / 21057418
spleen0 / 539520 
stomach13 / 96619134
testis8 / 33044224
thymus1 / 8113112
thyroid15 / 47473315
tonsil0 / 169990 
trachea32 / 52413610
umbilical cord0 / 136800 
uterus19 / 23287881
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218182_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts12.85
Adipocyte14.2
AdrenalCortex27.65
Adrenalgland18.95
Amygdala13.9
Appendix45.2
AtrioventricularNode25.15
BDCA4+_DentriticCells12.5
Bonemarrow17.2
BronchialEpithelialCells45.4
CD105+_Endothelial14.45
CD14+_Monocytes15.95
CD19+_BCells(neg._sel.)14.05
CD33+_Myeloid15.65
CD34+15.1
CD4+_Tcells11.45
CD56+_NKCells15.3
CD71+_EarlyErythroid14.95
CD8+_Tcells10
CardiacMyocytes25
Caudatenucleus13.15
Cerebellum12.25
CerebellumPeduncles23.9
CiliaryGanglion23.35
CingulateCortex18.05
Colorectaladenocarcinoma15.05
DorsalRootGanglion24.15
FetalThyroid16.05
Fetalbrain14.3
Fetalliver135.75
Fetallung10.4
GlobusPallidus12.65
Heart22.75
Hypothalamus15.2
Kidney15.45
Leukemia_chronicMyelogenousK-56213.8
Leukemia_promyelocytic-HL-6013.05
Leukemialymphoblastic(MOLT-4)11.75
Liver63.1
Lung15.8
Lymphnode12.35
Lymphoma_burkitts(Daudi)19.65
Lymphoma_burkitts(Raji)24.95
MedullaOblongata21.35
OccipitalLobe13.35
OlfactoryBulb11.65
Ovary17.95
Pancreas13.15
PancreaticIslet17
ParietalLobe19.25
Pituitary24.5
Placenta59.45
Pons20.3
PrefrontalCortex15.9
Prostate18.45
Salivarygland14.8
SkeletalMuscle40.45
Skin30.65
SmoothMuscle16.65
Spinalcord15.9
SubthalamicNucleus17.9
SuperiorCervicalGanglion56.65
TemporalLobe18.8
Testis12.9
TestisGermCell11.75
TestisIntersitial15.15
TestisLeydigCell23.45
TestisSeminiferousTubule12.95
Thalamus15.9
Thymus10.8
Thyroid15.4
Tongue29.4
Tonsil18.7
Trachea24.6
TrigeminalGanglion60.4
Uterus16.75
UterusCorpus25.8
WholeBlood14.2
Wholebrain11
colon13.8
pineal_day16.2
pineal_night15.8
retina17.425
small_intestine13.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P165949
  • 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
Amygdala4.33 ± 0.67
Basal Forebrain4.27 ± 0.61
Basal Part of Pons3.22 ± 0.48
Cerebellar Cortex3.09 ± 0.66
Cerebellar Nuclei4.21 ± 0.7
Claustrum3.48 ± 0.68
Epithalamus3.28 ± 0.62
Frontal Lobe3.61 ± 0.62
Globus Pallidus4.49 ± 0.45
Hypothalamus3.97 ± 0.54
Insula3.73 ± 0.54
Limbic Lobe3.75 ± 0.69
Mesencephalon4.2 ± 0.99
Myelencephalon3.67 ± 0.71
Occipital Lobe3.7 ± 0.99
Parietal Lobe3.6 ± 0.79
Pontine Tegmentum3.65 ± 0.59
Striatum4.11 ± 0.61
Subthalamus3.92 ± 0.35
Temporal Lobe3.72 ± 0.72
Thalamus3.44 ± 0.59
White Matter3.26 ± 0.48
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cldn1CBCerebellum3.83
7.05
Cldn1CTXCerebral cortex2.91
3.03
Cldn1HIPHippocampal region5.35
7.67
Cldn1HPFHippocampal formation9.09
9.47
Cldn1HYHypothalamus1.44
1.25
Cldn1LSXLateral septal complex1.22
1.81
Cldn1MBMidbrain1.57
1.97
Cldn1MYMedulla4.81
9.07
Cldn1OLFOlfactory bulb7.1
5.78
Cldn1PPons2.46
2.8
Cldn1PALPallidum1.9
1.75
Cldn1RHPRetrohippocampal region14.44
11.3
Cldn1sAMYStriatum-like amygdalar nuclei2.44
1.79
Cldn1STRStriatum1.29
1.33
Cldn1STRdStriatum dorsal region0.95
0.88
Cldn1STRvStriatum ventral region1.13
0.92
Cldn1THThalamus2.03
3.41
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