AutismKB 2.0

Annotation Detail for PCDH18


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Basic Information Top
Gene Symbol:PCDH18 ( DKFZp434B0923,KIAA1562,PCDH68L )
Gene Full Name: protocadherin 18
Band: 4q28.3
Quick LinksEntrez ID:54510; OMIM: 608287; Uniprot ID:PCD18_HUMAN; ENSEMBL ID: ENSG00000189184; HGNC ID: 14268
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
blastocyst6 / 6231996
fetus25 / 56401244
neonate7 / 31097225
infant0 / 236200 
juvenile0 / 555560 
adult48 / 193912124
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor14 / 119369117
germ cell tumor1 / 2638453
glioma3 / 10688328
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal103 / 336030730
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone6 / 7165583
bone marrow0 / 488010 
brain17 / 110098915
cervix0 / 481710 
connective tissue5 / 14925533
ear9 / 16212555
embryonic tissue13 / 21572260
esophagus0 / 202090 
eye3 / 21105414
heart2 / 8962622
intestine23 / 23447298
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle13 / 107715120
nerve1 / 1576863
ovary1 / 1020519
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta11 / 28082539
prostate4 / 18934521
salivary gland0 / 201550 
skin9 / 21057442
spleen2 / 5395237
stomach1 / 9661910
testis5 / 33044215
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord0 / 136800 
uterus15 / 23287864
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_501_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 ± 0.83
Basal Forebrain2.36 ± 0.33
Basal Part of Pons2.24 ± 0.58
Cerebellar Cortex2.34 ± 0.73
Cerebellar Nuclei2.78 ± 0.62
Claustrum3.01 ± 0.58
Epithalamus2.31 ± 0.64
Frontal Lobe2.34 ± 0.7
Globus Pallidus3.31 ± 0.62
Hypothalamus2.75 ± 0.48
Insula2.48 ± 0.49
Limbic Lobe2.47 ± 0.67
Mesencephalon2.76 ± 0.66
Myelencephalon2.58 ± 0.67
Occipital Lobe2.62 ± 0.77
Parietal Lobe2.57 ± 0.75
Pontine Tegmentum2.51 ± 0.69
Striatum2.62 ± 0.67
Subthalamus2.75 ± 0.98
Temporal Lobe2.58 ± 0.69
Thalamus2.45 ± 0.59
White Matter2.04 ± 0.4
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pcdh18CBCerebellum5.07
5.55
Pcdh18CTXCerebral cortex6.98
5.72
Pcdh18HIPHippocampal region3.06
3.12
Pcdh18HPFHippocampal formation3.5
3.23
Pcdh18HYHypothalamus7.35
5.94
Pcdh18LSXLateral septal complex2.11
1.7
Pcdh18MBMidbrain6.73
6.01
Pcdh18MYMedulla4.02
4.54
Pcdh18OLFOlfactory bulb14.92
11.82
Pcdh18PPons4.51
5.27
Pcdh18PALPallidum7.9
7.2
Pcdh18RHPRetrohippocampal region4.03
3.26
Pcdh18sAMYStriatum-like amygdalar nuclei19.58
16.99
Pcdh18STRStriatum4.4
3.61
Pcdh18STRdStriatum dorsal region1.77
1.47
Pcdh18STRvStriatum ventral region5.16
3.47
Pcdh18THThalamus3.68
3.06
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