AutismKB 2.0

Annotation Detail for PDE6B


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Basic Information Top
Gene Symbol:PDE6B ( CSNB3,CSNBAD2,PDEB,RP40,rd1 )
Gene Full Name: phosphodiesterase 6B, cGMP-specific, rod, beta
Band: 4p16.3
Quick LinksEntrez ID:5158; OMIM: 180072; Uniprot ID:PDE6B_HUMAN; ENSEMBL ID: ENSG00000133256; HGNC ID: 8786
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 
fetus6 / 56401210
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult19 / 19391219
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal42 / 336030712
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
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 
blood2 / 12347816
bone0 / 716550 
bone marrow0 / 488010 
brain25 / 110098922
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye12 / 21105456
heart1 / 8962611
intestine1 / 2344724
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth2 / 6705229
muscle2 / 10771518
nerve1 / 1576863
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach0 / 966190 
testis0 / 3304420 
thymus6 / 8113173
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210304_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.55
Adipocyte11.9
AdrenalCortex17.8
Adrenalgland10.65
Amygdala13.15
Appendix14.55
AtrioventricularNode12.1
BDCA4+_DentriticCells11.65
Bonemarrow15.7
BronchialEpithelialCells11.65
CD105+_Endothelial12.65
CD14+_Monocytes13
CD19+_BCells(neg._sel.)12.55
CD33+_Myeloid13.6
CD34+14.9
CD4+_Tcells8.75
CD56+_NKCells14.15
CD71+_EarlyErythroid11.5
CD8+_Tcells11
CardiacMyocytes17.4
Caudatenucleus11.1
Cerebellum9.9
CerebellumPeduncles17.35
CiliaryGanglion9.4
CingulateCortex13.6
Colorectaladenocarcinoma12.45
DorsalRootGanglion14.55
FetalThyroid16
Fetalbrain11.8
Fetalliver11.15
Fetallung9.9
GlobusPallidus10.65
Heart18.55
Hypothalamus13.15
Kidney10.4
Leukemia_chronicMyelogenousK-56211.2
Leukemia_promyelocytic-HL-6011
Leukemialymphoblastic(MOLT-4)9.8
Liver18.8
Lung13.35
Lymphnode10.35
Lymphoma_burkitts(Daudi)15.8
Lymphoma_burkitts(Raji)19.35
MedullaOblongata11.1
OccipitalLobe10.9
OlfactoryBulb10.3
Ovary8.2
Pancreas11.45
PancreaticIslet13.35
ParietalLobe14.2
Pituitary14.5
Placenta12.1
Pons12
PrefrontalCortex13.6
Prostate14.35
Salivarygland10.1
SkeletalMuscle15.75
Skin9.8
SmoothMuscle14.05
Spinalcord13.25
SubthalamicNucleus12.8
SuperiorCervicalGanglion17.1
TemporalLobe12.5
Testis10.5
TestisGermCell9.6
TestisIntersitial10.4
TestisLeydigCell12.4
TestisSeminiferousTubule10.4
Thalamus12.7
Thymus9.45
Thyroid14.9
Tongue13.95
Tonsil11.95
Trachea10.4
TrigeminalGanglion16.5
Uterus9.75
UterusCorpus11.45
WholeBlood13.3
Wholebrain10.25
colon10.55
pineal_day15.46
pineal_night15.12
retina25.7
small_intestine11.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P10743
  • 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
Amygdala3.1 ± 0.72
Basal Forebrain3.36 ± 0.91
Basal Part of Pons2.83 ± 0.63
Cerebellar Cortex2.65 ± 0.51
Cerebellar Nuclei3.04 ± 0.69
Claustrum2.98 ± 0.69
Epithalamus3.58 ± 0.82
Frontal Lobe3.03 ± 0.8
Globus Pallidus4.18 ± 0.34
Hypothalamus2.97 ± 0.62
Insula3.05 ± 0.67
Limbic Lobe3.13 ± 0.65
Mesencephalon3.4 ± 0.7
Myelencephalon3.21 ± 0.71
Occipital Lobe2.88 ± 0.7
Parietal Lobe3.12 ± 0.64
Pontine Tegmentum3.15 ± 0.6
Striatum3.94 ± 0.57
Subthalamus3.45 ± 0.23
Temporal Lobe3.22 ± 0.52
Thalamus3.08 ± 0.64
White Matter5.6 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pde6bSTRdStriatum dorsal region0.3
0.37
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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