AutismKB 2.0

Annotation Detail for PCDHB16


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PCDHB16 ( KIAA1621,ME1,PCDH-BETA16,PCDH3X,PCDHB8a )
Gene Full Name: protocadherin beta 16
Band: 5q31.3
Quick LinksEntrez ID:57717; OMIM: 606345; Uniprot ID:PCDBG_HUMAN; ENSEMBL ID: ENSG00000196963; HGNC ID: 14546
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 
fetus4 / 5640127
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult15 / 19391217
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor6 / 26384522
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal17 / 33603075
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
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 
brain17 / 110098915
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine2 / 2344728
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth1 / 6705214
muscle0 / 1077150 
nerve1 / 1576863
ovary0 / 1020510 
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach3 / 9661931
testis7 / 33044221
thymus1 / 8113112
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_710_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
Amygdala3.46 ± 0.88
Basal Forebrain2.89 ± 0.59
Basal Part of Pons2.73 ± 0.38
Cerebellar Cortex3.22 ± 0.64
Cerebellar Nuclei3.13 ± 0.68
Claustrum3.72 ± 1.11
Epithalamus3.64 ± 0.67
Frontal Lobe3.21 ± 0.74
Globus Pallidus3.04 ± 0.83
Hypothalamus2.58 ± 0.65
Insula2.78 ± 1.01
Limbic Lobe3.4 ± 0.75
Mesencephalon3.34 ± 0.74
Myelencephalon3.26 ± 0.72
Occipital Lobe3.57 ± 0.52
Parietal Lobe3.39 ± 0.92
Pontine Tegmentum3.28 ± 0.79
Striatum3.45 ± 0.74
Subthalamus3.53 ± 1.33
Temporal Lobe3.16 ± 0.7
Thalamus3.13 ± 0.7
White Matter3.53 ± 0.87
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pcdhb17CBCerebellum7.5
8.16
Pcdhb17CTXCerebral cortex10.18
5.81
Pcdhb17HIPHippocampal region9.69
6.29
Pcdhb17HPFHippocampal formation11.01
7.18
Pcdhb17HYHypothalamus4.3
2.86
Pcdhb17LSXLateral septal complex3.55
2.03
Pcdhb17MBMidbrain6.64
4.98
Pcdhb17MYMedulla5.25
4.17
Pcdhb17OLFOlfactory bulb15.49
8.6
Pcdhb17PPons10.08
7.27
Pcdhb17PALPallidum7.48
4.52
Pcdhb17RHPRetrohippocampal region13.02
8.35
Pcdhb17sAMYStriatum-like amygdalar nuclei8.5
5.05
Pcdhb17STRStriatum6.24
3.32
Pcdhb17STRdStriatum dorsal region5.91
3.12
Pcdhb17STRvStriatum ventral region7.5
3.55
Pcdhb17THThalamus6.66
4.29
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