AutismKB 2.0

Annotation Detail for PDGFRA


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Basic Information Top
Gene Symbol:PDGFRA ( CD140A,MGC74795,PDGFR2,RHEPDGFRA )
Gene Full Name: platelet-derived growth factor receptor, alpha polypeptide
Band: 4q12
Quick LinksEntrez ID:5156; OMIM: 173490; Uniprot ID:PGFRA_HUMAN; ENSEMBL ID: ENSG00000134853; HGNC ID: 8803
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 body5 / 7076170
blastocyst3 / 6231948
fetus56 / 56401299
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult105 / 193912154
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 
chondrosarcoma5 / 8282360
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor8 / 26384530
glioma14 / 106883130
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor10 / 96359103
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal209 / 336030762
ovarian tumor5 / 7668265
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood2 / 12347816
bone1 / 7165513
bone marrow2 / 4880140
brain39 / 110098935
cervix0 / 481710 
connective tissue15 / 149255100
ear9 / 16212555
embryonic tissue12 / 21572255
esophagus0 / 202090 
eye13 / 21105461
heart11 / 89626122
intestine4 / 23447217
kidney9 / 21177742
larynx0 / 241450 
liver17 / 20774381
lung22 / 33697465
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth4 / 6705259
muscle10 / 10771592
nerve1 / 1576863
ovary5 / 10205148
pancreas6 / 21481227
parathyroid3 / 20539146
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta19 / 28082567
prostate4 / 18934521
salivary gland0 / 201550 
skin1 / 2105744
spleen6 / 53952111
stomach1 / 9661910
testis13 / 33044239
thymus3 / 8113136
thyroid0 / 474730 
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus26 / 232878111
vascular7 / 51780135
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203131_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.35
Adipocyte922.9
AdrenalCortex74.6
Adrenalgland82.1
Amygdala130.15
Appendix196.7
AtrioventricularNode34.6
BDCA4+_DentriticCells9.4
Bonemarrow26
BronchialEpithelialCells16.15
CD105+_Endothelial26.95
CD14+_Monocytes12.8
CD19+_BCells(neg._sel.)12.55
CD33+_Myeloid14.7
CD34+12.7
CD4+_Tcells10.75
CD56+_NKCells10.05
CD71+_EarlyErythroid18.3
CD8+_Tcells12.95
CardiacMyocytes312.1
Caudatenucleus42.3
Cerebellum16.8
CerebellumPeduncles37.25
CiliaryGanglion69.85
CingulateCortex71.05
Colorectaladenocarcinoma14.15
DorsalRootGanglion31.55
FetalThyroid112
Fetalbrain158
Fetalliver28.25
Fetallung352.15
GlobusPallidus22.95
Heart46.05
Hypothalamus136.1
Kidney25.25
Leukemia_chronicMyelogenousK-56218.5
Leukemia_promyelocytic-HL-6015.5
Leukemialymphoblastic(MOLT-4)10.2
Liver43.1
Lung104.9
Lymphnode69.35
Lymphoma_burkitts(Daudi)20.8
Lymphoma_burkitts(Raji)35.1
MedullaOblongata30.15
OccipitalLobe60.75
OlfactoryBulb123.05
Ovary562.3
Pancreas113.45
PancreaticIslet217.7
ParietalLobe36.05
Pituitary26.45
Placenta95.3
Pons28.3
PrefrontalCortex49.85
Prostate54.35
Salivarygland50.8
SkeletalMuscle36.7
Skin73.4
SmoothMuscle658
Spinalcord104.55
SubthalamicNucleus31.85
SuperiorCervicalGanglion54.5
TemporalLobe26.6
Testis22.95
TestisGermCell99.3
TestisIntersitial60.75
TestisLeydigCell48
TestisSeminiferousTubule42.65
Thalamus64.05
Thymus21.45
Thyroid90.5
Tongue86.15
Tonsil29.3
Trachea65
TrigeminalGanglion47.15
Uterus546.1
UterusCorpus130.65
WholeBlood16.65
Wholebrain37.4
colon309.3
pineal_day69.82
pineal_night83.38
retina211.725
small_intestine485.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_33_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
Amygdala6.02 ± 0.43
Basal Forebrain5.88 ± 0.31
Basal Part of Pons5.24 ± 0.46
Cerebellar Cortex4.87 ± 0.31
Cerebellar Nuclei5.76 ± 0.38
Claustrum5.16 ± 0.58
Epithalamus4.7 ± 0.56
Frontal Lobe5.32 ± 0.45
Globus Pallidus6.33 ± 0.31
Hypothalamus5.08 ± 0.6
Insula5.3 ± 0.37
Limbic Lobe5.52 ± 0.58
Mesencephalon5.51 ± 0.47
Myelencephalon5.43 ± 0.54
Occipital Lobe5.2 ± 0.5
Parietal Lobe5.28 ± 0.53
Pontine Tegmentum5.51 ± 0.54
Striatum5.91 ± 0.4
Subthalamus5.02 ± 0.74
Temporal Lobe5.45 ± 0.45
Thalamus5.49 ± 0.32
White Matter6.46 ± 0.54
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PGFRA_HUMAN_491 10 491 500 AKVEETIAVR 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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