AutismKB 2.0

Annotation Detail for CDH23


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Basic Information Top
Gene Symbol:CDH23 ( CDHR23,DKFZp434P2350,FLJ00233,FLJ36499,KIAA1774,KIAA1812,MGC102761,USH1D )
Gene Full Name: cadherin-related 23
Band: 10q22.1
Quick LinksEntrez ID:64072; OMIM: 605516; Uniprot ID:CAD23_HUMAN; ENSEMBL ID: ENSG00000107736; HGNC ID: 13733
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 
fetus7 / 56401212
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult37 / 193912119
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor0 / 2638450 
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal32 / 33603079
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma9 / 46356194
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites2 / 4001549
bladder1 / 2975733
blood1 / 1234788
bone2 / 7165527
bone marrow0 / 488010 
brain14 / 110098912
cervix0 / 481710 
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye19 / 21105490
heart0 / 896260 
intestine1 / 2344724
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung5 / 33697414
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen3 / 5395255
stomach0 / 966190 
testis3 / 3304429
thymus3 / 8113136
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16133_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
Amygdala3.05 ± 0.96
Basal Forebrain2.55 ± 0.42
Basal Part of Pons3.32 ± 0.57
Cerebellar Cortex3.47 ± 0.47
Cerebellar Nuclei2.71 ± 0.78
Claustrum3.27 ± 0.79
Epithalamus2.62 ± 0.81
Frontal Lobe2.46 ± 0.81
Globus Pallidus3.21 ± 1.03
Hypothalamus2.43 ± 0.57
Insula2.24 ± 0.63
Limbic Lobe2.47 ± 0.79
Mesencephalon2.76 ± 0.82
Myelencephalon2.67 ± 0.77
Occipital Lobe2.91 ± 0.82
Parietal Lobe2.6 ± 0.89
Pontine Tegmentum2.48 ± 0.76
Striatum2.39 ± 0.85
Subthalamus3.42 ± 0.26
Temporal Lobe2.51 ± 0.74
Thalamus2.81 ± 0.62
White Matter2.53 ± 0.56
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cdh23CBCerebellum0.73
0.86
Cdh23CTXCerebral cortex0.58
0.54
Cdh23HIPHippocampal region0.55
0.52
Cdh23HPFHippocampal formation0.69
0.61
Cdh23HYHypothalamus5.97
5.05
Cdh23LSXLateral septal complex3.78
2.77
Cdh23MBMidbrain2.45
2.25
Cdh23MYMedulla2.99
3.94
Cdh23OLFOlfactory bulb4.35
4.33
Cdh23PPons9.09
11.96
Cdh23PALPallidum1.11
0.99
Cdh23RHPRetrohippocampal region0.87
0.69
Cdh23sAMYStriatum-like amygdalar nuclei1.35
1.24
Cdh23STRStriatum0.63
0.51
Cdh23STRdStriatum dorsal region0.18
0.13
Cdh23STRvStriatum ventral region0.81
0.75
Cdh23THThalamus3.15
3.44
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