AutismKB 2.0

Annotation Detail for PPP2R1A


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Basic Information Top
Gene Symbol:PPP2R1A ( MGC786,PP2A-Aalpha,PP2AAALPHA,PR65A )
Gene Full Name: protein phosphatase 2, regulatory subunit A, alpha
Band: 19q13.41
Quick LinksEntrez ID:5518; OMIM: 605983; Uniprot ID:2AAA_HUMAN; ENSEMBL ID: ENSG00000105568; HGNC ID: 9302
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 body16 / 70761226
blastocyst23 / 62319369
fetus482 / 564012854
neonate45 / 310971447
infant24 / 236201016
juvenile60 / 555561079
adult700 / 1939121360
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor9 / 12794703
bladder carcinoma1 / 1747557
breast (mammary gland) tumor35 / 94178371
cervical tumor11 / 34366320
chondrosarcoma23 / 82823277
colorectal tumor33 / 114246288
esophageal tumor5 / 17290289
gastrointestinal tumor59 / 119369494
germ cell tumor288 / 2638451091
glioma113 / 1068831057
head and neck tumor41 / 136302300
kidney tumor69 / 689591000
leukemia27 / 95842281
liver tumor26 / 96359269
lung tumor33 / 103127319
lymphoma39 / 71755543
non-neoplasia52 / 97250534
normal2250 / 3360307669
ovarian tumor21 / 76682273
pancreatic tumor33 / 104616315
primitive neuroectodermal tumor of the CNS163 / 1256801296
prostate cancer23 / 102680223
retinoblastoma19 / 46356409
skin tumor62 / 124949496
soft tissue/muscle tissue tumor81 / 125191647
uterine tumor19 / 90257210
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue6 / 13106457
adrenal gland71 / 331972138
ascites25 / 40015624
bladder12 / 29757403
blood45 / 123478364
bone19 / 71655265
bone marrow11 / 48801225
brain1473 / 11009891337
cervix22 / 48171456
connective tissue84 / 149255562
ear0 / 162120 
embryonic tissue63 / 215722292
esophagus7 / 20209346
eye57 / 211054270
heart43 / 89626479
intestine98 / 234472417
kidney215 / 2117771015
larynx1 / 2414541
liver32 / 207743154
lung89 / 336974264
lymph32 / 44270722
lymph node11 / 91610120
mammary gland46 / 153271300
mouth41 / 67052611
muscle35 / 107715324
nerve5 / 15768317
ovary44 / 102051431
pancreas42 / 214812195
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland7 / 16585422
placenta59 / 280825210
prostate65 / 189345343
salivary gland11 / 20155545
skin164 / 210574778
spleen73 / 539521353
stomach36 / 96619372
testis150 / 330442453
thymus75 / 81131924
thyroid24 / 47473505
tonsil8 / 16999470
trachea23 / 52413438
umbilical cord15 / 136801096
uterus135 / 232878579
vascular50 / 51780965
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200695_at
Cell line Expression level Expression bar
721_B_lymphoblasts788.6
Adipocyte308.85
AdrenalCortex895.9
Adrenalgland524.15
Amygdala615.5
Appendix269.2
AtrioventricularNode197.3
BDCA4+_DentriticCells344.6
Bonemarrow255.95
BronchialEpithelialCells455.55
CD105+_Endothelial261.15
CD14+_Monocytes367.05
CD19+_BCells(neg._sel.)293.85
CD33+_Myeloid368.55
CD34+353.05
CD4+_Tcells366.8
CD56+_NKCells424
CD71+_EarlyErythroid247.5
CD8+_Tcells278
CardiacMyocytes440.85
Caudatenucleus467.45
Cerebellum564.6
CerebellumPeduncles787.3
CiliaryGanglion182.45
CingulateCortex338.85
Colorectaladenocarcinoma301.35
DorsalRootGanglion200.25
FetalThyroid340.55
Fetalbrain622.1
Fetalliver209.25
Fetallung244.7
GlobusPallidus295.5
Heart1392.45
Hypothalamus318.15
Kidney254.55
Leukemia_chronicMyelogenousK-562246.65
Leukemia_promyelocytic-HL-60281.8
Leukemialymphoblastic(MOLT-4)292.1
Liver355.6
Lung323.65
Lymphnode172.75
Lymphoma_burkitts(Daudi)361.4
Lymphoma_burkitts(Raji)398.6
MedullaOblongata433.1
OccipitalLobe473.2
OlfactoryBulb182.8
Ovary212.55
Pancreas204
PancreaticIslet284.15
ParietalLobe392.8
Pituitary390.8
Placenta304.45
Pons369.2
PrefrontalCortex720.65
Prostate377.05
Salivarygland214.8
SkeletalMuscle318.8
Skin199.7
SmoothMuscle420.25
Spinalcord304.35
SubthalamicNucleus428.75
SuperiorCervicalGanglion297.2
TemporalLobe479.7
Testis227.3
TestisGermCell257.3
TestisIntersitial229
TestisLeydigCell265.55
TestisSeminiferousTubule250.1
Thalamus617.9
Thymus259.25
Thyroid430.2
Tongue259.25
Tonsil278.15
Trachea231.5
TrigeminalGanglion260.55
Uterus208.85
UterusCorpus235.7
WholeBlood295.4
Wholebrain1016
colon267.35
pineal_day694.7
pineal_night686.88
retina615.4
small_intestine274.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P700170
  • 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
Amygdala7.25 ± 0.46
Basal Forebrain7.12 ± 0.33
Basal Part of Pons7.95 ± 0.22
Cerebellar Cortex7.69 ± 0.38
Cerebellar Nuclei7.25 ± 0.56
Claustrum7.68 ± 0.31
Epithalamus7.16 ± 0.42
Frontal Lobe7.63 ± 0.41
Globus Pallidus6.33 ± 0.27
Hypothalamus7.2 ± 0.4
Insula7.64 ± 0.21
Limbic Lobe7.6 ± 0.49
Mesencephalon7.33 ± 0.41
Myelencephalon7.45 ± 0.51
Occipital Lobe7.1 ± 0.52
Parietal Lobe7.48 ± 0.36
Pontine Tegmentum7.43 ± 0.58
Striatum7.27 ± 0.39
Subthalamus7.05 ± 0.68
Temporal Lobe7.65 ± 0.41
Thalamus7.59 ± 0.31
White Matter6.17 ± 0.34
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ppp2r1aCBCerebellum73.06
100
Ppp2r1aCTXCerebral cortex100
100
Ppp2r1aHIPHippocampal region100
100
Ppp2r1aHPFHippocampal formation100
100
Ppp2r1aHYHypothalamus100
100
Ppp2r1aLSXLateral septal complex100
100
Ppp2r1aMBMidbrain100
100
Ppp2r1aMYMedulla100
100
Ppp2r1aOLFOlfactory bulb100
100
Ppp2r1aPPons100
100
Ppp2r1aPALPallidum100
100
Ppp2r1aRHPRetrohippocampal region100
100
Ppp2r1asAMYStriatum-like amygdalar nuclei100
100
Ppp2r1aSTRStriatum100
100
Ppp2r1aSTRdStriatum dorsal region100
100
Ppp2r1aSTRvStriatum ventral region100
100
Ppp2r1aTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
2AAA_HUMAN_0 0 0 0 IGPILDNSTLQSEVKPILEK PRIDE
2AAA_HUMAN_1 20 1 20 AAADGDDSLYPIAVLIDELR PRIDE
2AAA_HUMAN_113 20 113 132 AISHEHSPSDLEAHFVPLVK PRIDE
2AAA_HUMAN_113 21 113 133 AISHEHSPSDLEAHFVPLVKR PRIDE
2AAA_HUMAN_144 13 144 156 TSACGLFSVCYPR PRIDE
2AAA_HUMAN_171 11 171 181 NLCSDDTPMVR PRIDE
2AAA_HUMAN_2 20 2 21 AAADGDDSLYPIAVLIDELR PRIDE
2AAA_HUMAN_202 19 202 220 SEIIPMFSNLASDEQDSVR PRIDE
2AAA_HUMAN_260 12 260 271 YMVADKFTELQK PRIDE
2AAA_HUMAN_280 12 280 291 TDLVPAFQNLMK PRIDE
2AAA_HUMAN_305 13 305 317 VKEFCENLSADCR PRIDE
2AAA_HUMAN_307 11 307 317 EFCENLSADCR PRIDE
2AAA_HUMAN_318 13 318 330 ENVIMSQILPCIK PRIDE
2AAA_HUMAN_34 12 34 45 LSTIALALGVER PRIDE
2AAA_HUMAN_342 16 342 357 SALASVIMGLSPILGK PRIDE
2AAA_HUMAN_358 23 358 380 DNTIEHLLPLFLAQLKDECPEVR PRIDE
2AAA_HUMAN_381 17 381 397 LNIISNLDCVNEVIGIR PRIDE
2AAA_HUMAN_398 18 398 415 QLSQSLLPAIVELAEDAK PRIDE
2AAA_HUMAN_398 20 398 417 QLSQSLLPAIVELAEDAKWR PRIDE
2AAA_HUMAN_442 17 442 458 LNSLCMAWLVDHVYAIR PRIDE
2AAA_HUMAN_485 13 485 497 VLAMSGDPNYLHR PRIDE
2AAA_HUMAN_489 9 489 497 SGDPNYLHR PRIDE
2AAA_HUMAN_519 8 519 526 HMLPTVLR PRIDE
2AAA_HUMAN_546 20 546 565 IGPILDNSTLQSEVKPILEK PRIDE
2AAA_HUMAN_576 13 576 588 YFAQEALTVLSLA PRIDE
PAp00000446 20 114 133 AISHEHSPSDLEAHFVPLVK Peptide Atlas

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