AutismKB 2.0

Annotation Detail for PCDHB8


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Basic Information Top
Gene Symbol:PCDHB8 ( PCDH-BETA8,PCDH3I )
Gene Full Name: protocadherin beta 8
Band: 5q31.3
Quick LinksEntrez ID:56128; OMIM: 606334; Uniprot ID:PCDB8_HUMAN; ENSEMBL ID: ENSG00000120322; HGNC ID: 8693
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 
fetus2 / 5640123
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult3 / 19391211
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal6 / 33603071
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
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 tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain5 / 11009894
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth3 / 6705244
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis2 / 3304426
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221319_at
Cell line Expression level Expression bar
721_B_lymphoblasts7
Adipocyte6.25
AdrenalCortex8.15
Adrenalgland5.4
Amygdala6.45
Appendix7.85
AtrioventricularNode7.15
BDCA4+_DentriticCells6.85
Bonemarrow6.85
BronchialEpithelialCells6.1
CD105+_Endothelial6.25
CD14+_Monocytes6.75
CD19+_BCells(neg._sel.)6.6
CD33+_Myeloid7.8
CD34+7.8
CD4+_Tcells6.4
CD56+_NKCells7.2
CD71+_EarlyErythroid6.15
CD8+_Tcells5.65
CardiacMyocytes10.2
Caudatenucleus5.75
Cerebellum5.2
CerebellumPeduncles7.55
CiliaryGanglion5.35
CingulateCortex6.75
Colorectaladenocarcinoma6.4
DorsalRootGanglion6
FetalThyroid6.7
Fetalbrain6.1
Fetalliver5.65
Fetallung4.8
GlobusPallidus5.05
Heart9.75
Hypothalamus6.5
Kidney5.45
Leukemia_chronicMyelogenousK-5625.7
Leukemia_promyelocytic-HL-605.6
Leukemialymphoblastic(MOLT-4)4.95
Liver9.85
Lung7.15
Lymphnode5.25
Lymphoma_burkitts(Daudi)8.35
Lymphoma_burkitts(Raji)9.9
MedullaOblongata5.8
OccipitalLobe5.65
OlfactoryBulb4.95
Ovary4.7
Pancreas5.5
PancreaticIslet6.85
ParietalLobe7.15
Pituitary7.4
Placenta6.3
Pons6.75
PrefrontalCortex7.5
Prostate7.2
Salivarygland5.45
SkeletalMuscle8.6
Skin6.25
SmoothMuscle7.15
Spinalcord6.7
SubthalamicNucleus6.3
SuperiorCervicalGanglion11.3
TemporalLobe6
Testis5.45
TestisGermCell5.15
TestisIntersitial5.6
TestisLeydigCell6.7
TestisSeminiferousTubule5.45
Thalamus6.5
Thymus4.8
Thyroid7.6
Tongue6.9
Tonsil6.3
Trachea5.25
TrigeminalGanglion7.7
Uterus5.1
UterusCorpus6.35
WholeBlood6.9
Wholebrain5.05
colon6.35
pineal_day7.7
pineal_night7.7
retina7.7
small_intestine6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1422_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
Amygdala3.08 ± 0.82
Basal Forebrain2.58 ± 0.29
Basal Part of Pons2.69 ± 0.49
Cerebellar Cortex2.4 ± 0.61
Cerebellar Nuclei2.64 ± 0.46
Claustrum3.02 ± 0.79
Epithalamus3.7 ± 0.51
Frontal Lobe2.8 ± 0.72
Globus Pallidus3.18 ± 0.61
Hypothalamus2.25 ± 0.52
Insula2.77 ± 0.57
Limbic Lobe3.17 ± 0.72
Mesencephalon2.9 ± 0.67
Myelencephalon2.91 ± 0.7
Occipital Lobe3.21 ± 0.59
Parietal Lobe3.02 ± 0.82
Pontine Tegmentum2.93 ± 0.84
Striatum3.38 ± 0.67
Subthalamus2.83 ± 0.35
Temporal Lobe2.74 ± 0.8
Thalamus2.91 ± 0.65
White Matter2.94 ± 0.78
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


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