AutismKB 2.0

Annotation Detail for PDGFRB


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Basic Information Top
Gene Symbol:PDGFRB ( CD140B,JTK12,PDGFR,PDGFR1 )
Gene Full Name: platelet-derived growth factor receptor, beta polypeptide
Band: 5q32
Quick LinksEntrez ID:5159; OMIM: 173410; Uniprot ID:PGFRB_HUMAN; ENSEMBL ID: ENSG00000113721; HGNC ID: 8804
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 body11 / 70761155
blastocyst2 / 6231932
fetus26 / 56401246
neonate1 / 3109732
infant0 / 236200 
juvenile4 / 5555671
adult144 / 193912174
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma5 / 17475286
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma11 / 82823132
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor17 / 26384564
glioma2 / 10688318
head and neck tumor8 / 13630258
kidney tumor7 / 68959101
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal204 / 336030760
ovarian tumor5 / 7668265
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS13 / 125680103
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor11 / 90257121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder2 / 2975767
blood2 / 12347816
bone12 / 71655167
bone marrow1 / 4880120
brain46 / 110098941
cervix0 / 481710 
connective tissue8 / 14925553
ear1 / 1621261
embryonic tissue13 / 21572260
esophagus0 / 202090 
eye19 / 21105490
heart6 / 8962666
intestine18 / 23447276
kidney12 / 21177756
larynx3 / 24145124
liver1 / 2077434
lung23 / 33697468
lymph0 / 442700 
lymph node1 / 9161010
mammary gland8 / 15327152
mouth1 / 6705214
muscle3 / 10771527
nerve5 / 15768317
ovary11 / 102051107
pancreas15 / 21481269
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta14 / 28082549
prostate8 / 18934542
salivary gland1 / 2015549
skin18 / 21057485
spleen5 / 5395292
stomach6 / 9661962
testis12 / 33044236
thymus0 / 811310 
thyroid3 / 4747363
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord1 / 1368073
uterus25 / 232878107
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202273_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.85
Adipocyte273.65
AdrenalCortex17.8
Adrenalgland15.3
Amygdala9.7
Appendix28.15
AtrioventricularNode21
BDCA4+_DentriticCells9.95
Bonemarrow9.75
BronchialEpithelialCells6.65
CD105+_Endothelial12.25
CD14+_Monocytes7.6
CD19+_BCells(neg._sel.)8.7
CD33+_Myeloid10.8
CD34+8.6
CD4+_Tcells11.3
CD56+_NKCells22.7
CD71+_EarlyErythroid8.15
CD8+_Tcells6.4
CardiacMyocytes10.35
Caudatenucleus10.6
Cerebellum9.5
CerebellumPeduncles13.95
CiliaryGanglion15.3
CingulateCortex14.25
Colorectaladenocarcinoma6.5
DorsalRootGanglion20.8
FetalThyroid65.7
Fetalbrain7.85
Fetalliver10.3
Fetallung55.7
GlobusPallidus9.25
Heart30.6
Hypothalamus13.45
Kidney10.4
Leukemia_chronicMyelogenousK-5626.7
Leukemia_promyelocytic-HL-606.2
Leukemialymphoblastic(MOLT-4)6.2
Liver10.65
Lung70.7
Lymphnode12.85
Lymphoma_burkitts(Daudi)9.35
Lymphoma_burkitts(Raji)8.75
MedullaOblongata11
OccipitalLobe11.55
OlfactoryBulb22.4
Ovary23.9
Pancreas11.15
PancreaticIslet20.9
ParietalLobe12.6
Pituitary12.9
Placenta32.25
Pons11.5
PrefrontalCortex25.2
Prostate23.2
Salivarygland12
SkeletalMuscle21.6
Skin20.25
SmoothMuscle15.05
Spinalcord13.1
SubthalamicNucleus11.4
SuperiorCervicalGanglion18.9
TemporalLobe11.35
Testis14.9
TestisGermCell20.35
TestisIntersitial10.45
TestisLeydigCell15
TestisSeminiferousTubule20.9
Thalamus12.2
Thymus8.1
Thyroid18.35
Tongue17.9
Tonsil9.6
Trachea13.1
TrigeminalGanglion15.75
Uterus139
UterusCorpus41.05
WholeBlood4.45
Wholebrain10.1
colon12.2
pineal_day16.58
pineal_night15.14
retina83.25
small_intestine18.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_34_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
Amygdala3.78 ± 0.61
Basal Forebrain3.82 ± 0.28
Basal Part of Pons3.18 ± 0.62
Cerebellar Cortex3.2 ± 0.64
Cerebellar Nuclei3.9 ± 0.56
Claustrum3.9 ± 0.63
Epithalamus3.23 ± 0.62
Frontal Lobe3.39 ± 0.58
Globus Pallidus4.63 ± 0.43
Hypothalamus3.28 ± 0.33
Insula3.35 ± 0.57
Limbic Lobe3.46 ± 0.72
Mesencephalon3.66 ± 0.67
Myelencephalon3.57 ± 0.64
Occipital Lobe3.78 ± 0.62
Parietal Lobe3.67 ± 0.51
Pontine Tegmentum3.59 ± 0.65
Striatum4.17 ± 0.45
Subthalamus4.07 ± 0.8
Temporal Lobe3.37 ± 0.66
Thalamus3.73 ± 0.57
White Matter3.78 ± 0.34
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
PdgfrbCBCerebellum16.91
20.36
PdgfrbCTXCerebral cortex13.53
10.45
PdgfrbHIPHippocampal region12.35
13.26
PdgfrbHPFHippocampal formation13.16
13.08
PdgfrbHYHypothalamus15.44
13.1
PdgfrbLSXLateral septal complex11.15
9.12
PdgfrbMBMidbrain15.66
15.71
PdgfrbMYMedulla20.66
21.09
PdgfrbOLFOlfactory bulb23.36
18.95
PdgfrbPPons17.28
17.37
PdgfrbPALPallidum12.48
9.98
PdgfrbRHPRetrohippocampal region14.32
11.4
PdgfrbsAMYStriatum-like amygdalar nuclei11.17
10.35
PdgfrbSTRStriatum12.04
9.74
PdgfrbSTRdStriatum dorsal region11.97
9.78
PdgfrbSTRvStriatum ventral region12.76
8.94
PdgfrbTHThalamus15.2
13.17
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp01369293 17 257 273 LVEPVTDFLLDMPYHIR Peptide Atlas
PGFRB_HUMAN_256 17 256 272 LVEPVTDFLLDMPYHIR PRIDE
PGFRB_HUMAN_257 17 257 273 LVEPVTDFLLDMPYHIR PRIDE
PGFRB_HUMAN_944 16 944 959 FEIRPPFSQLVLLLER PRIDE

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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