AutismKB 2.0

Annotation Detail for PDCD1


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Basic Information Top
Gene Symbol:PDCD1 ( CD279,PD1,SLEB2,hPD-1,hPD-l )
Gene Full Name: programmed cell death 1
Band: 2q37.3
Quick LinksEntrez ID:5133; OMIM: 600244; Uniprot ID:PDCD1_HUMAN; ENSEMBL ID: ENSG00000188389; HGNC ID: 8760
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 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult4 / 19391212
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 tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal2 / 33603070 
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
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 tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood3 / 12347824
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207634_at
Cell line Expression level Expression bar
721_B_lymphoblasts11.65
Adipocyte9
AdrenalCortex9.85
Adrenalgland7.75
Amygdala9.45
Appendix9.4
AtrioventricularNode7.55
BDCA4+_DentriticCells10
Bonemarrow9.2
BronchialEpithelialCells6.7
CD105+_Endothelial9.35
CD14+_Monocytes9.75
CD19+_BCells(neg._sel.)9.8
CD33+_Myeloid11.7
CD34+12.9
CD4+_Tcells15.85
CD56+_NKCells10.8
CD71+_EarlyErythroid11.5
CD8+_Tcells9.05
CardiacMyocytes11.6
Caudatenucleus8.35
Cerebellum7.4
CerebellumPeduncles10.5
CiliaryGanglion6.65
CingulateCortex9.5
Colorectaladenocarcinoma9.15
DorsalRootGanglion7.25
FetalThyroid8.9
Fetalbrain9.05
Fetalliver8
Fetallung7.5
GlobusPallidus6.85
Heart12.7
Hypothalamus9.7
Kidney7.65
Leukemia_chronicMyelogenousK-5628.25
Leukemia_promyelocytic-HL-608.05
Leukemialymphoblastic(MOLT-4)7.3
Liver12.05
Lung10.05
Lymphnode7.9
Lymphoma_burkitts(Daudi)11.85
Lymphoma_burkitts(Raji)13.05
MedullaOblongata8.45
OccipitalLobe8.2
OlfactoryBulb7.25
Ovary6.1
Pancreas6.65
PancreaticIslet11.1
ParietalLobe9.7
Pituitary10.7
Placenta9.2
Pons12.8
PrefrontalCortex11.4
Prostate10.6
Salivarygland7.4
SkeletalMuscle10.4
Skin7.1
SmoothMuscle10.4
Spinalcord10.4
SubthalamicNucleus8.75
SuperiorCervicalGanglion10.25
TemporalLobe8.35
Testis8
TestisGermCell7.65
TestisIntersitial7.55
TestisLeydigCell9.05
TestisSeminiferousTubule7.95
Thalamus9.5
Thymus7.2
Thyroid9.95
Tongue9.25
Tonsil8.9
Trachea7.65
TrigeminalGanglion9.25
Uterus7.35
UterusCorpus7.95
WholeBlood9.85
Wholebrain7.55
colon9.3
pineal_day11.44
pineal_night11.26
retina11.125
small_intestine8.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16767_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
Amygdala2.52 ± 1.09
Basal Forebrain2.07 ± 0.44
Basal Part of Pons1.76 ± 0.55
Cerebellar Cortex1.84 ± 0.75
Cerebellar Nuclei2.36 ± 0.74
Claustrum2.87 ± 0.85
Epithalamus1.64 ± 0.71
Frontal Lobe1.83 ± 0.7
Globus Pallidus2.64 ± 0.54
Hypothalamus1.99 ± 0.62
Insula1.89 ± 0.71
Limbic Lobe2.04 ± 0.78
Mesencephalon2.08 ± 0.64
Myelencephalon2.05 ± 0.69
Occipital Lobe2.16 ± 0.62
Parietal Lobe2.14 ± 0.77
Pontine Tegmentum2.06 ± 0.79
Striatum2.11 ± 0.64
Subthalamus3.07 ± 2.19
Temporal Lobe1.83 ± 0.65
Thalamus1.92 ± 0.63
White Matter2.46 ± 0.51
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pdcd1CBCerebellum1.81
2.94
Pdcd1CTXCerebral cortex1.11
1.47
Pdcd1HIPHippocampal region0.38
0.42
Pdcd1HPFHippocampal formation0.38
0.47
Pdcd1HYHypothalamus0.61
0.44
Pdcd1LSXLateral septal complex0
0
Pdcd1MBMidbrain0.85
1.29
Pdcd1MYMedulla0.41
0.42
Pdcd1OLFOlfactory bulb1.17
1.02
Pdcd1PPons0.85
1.14
Pdcd1PALPallidum0.38
0.88
Pdcd1RHPRetrohippocampal region0.37
0.62
Pdcd1sAMYStriatum-like amygdalar nuclei0.37
0.4
Pdcd1STRStriatum0.24
0.33
Pdcd1STRdStriatum dorsal region0.29
0.28
Pdcd1STRvStriatum ventral region0.23
0.61
Pdcd1THThalamus1.24
1.8
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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