AutismKB 2.0

Annotation Detail for PPM1D


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Basic Information Top
Gene Symbol:PPM1D ( PP2C-DELTA,WIP1 )
Gene Full Name: protein phosphatase, Mg2+/Mn2+ dependent, 1D
Band: 17q23.3
Quick LinksEntrez ID:8493; OMIM: 605100; Uniprot ID:PPM1D_HUMAN; ENSEMBL ID: ENSG00000170836; HGNC ID: 9277
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 
fetus4 / 5640127
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult9 / 19391214
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 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma4 / 10688337
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal10 / 33603072
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
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 
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain8 / 11009897
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis2 / 3304426
thymus0 / 811310 
thyroid1 / 4747321
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204566_at
Cell line Expression level Expression bar
721_B_lymphoblasts46.4
Adipocyte5.55
AdrenalCortex6.35
Adrenalgland4.95
Amygdala5.8
Appendix7.6
AtrioventricularNode5.2
BDCA4+_DentriticCells27.55
Bonemarrow6.6
BronchialEpithelialCells5.45
CD105+_Endothelial21.35
CD14+_Monocytes20.4
CD19+_BCells(neg._sel.)24.6
CD33+_Myeloid38
CD34+128.35
CD4+_Tcells7.25
CD56+_NKCells29.95
CD71+_EarlyErythroid13.85
CD8+_Tcells5.65
CardiacMyocytes11.8
Caudatenucleus5.25
Cerebellum7.45
CerebellumPeduncles7.6
CiliaryGanglion5.3
CingulateCortex5.95
Colorectaladenocarcinoma5.95
DorsalRootGanglion5.45
FetalThyroid5.7
Fetalbrain5.55
Fetalliver5.1
Fetallung5
GlobusPallidus4.55
Heart8.35
Hypothalamus6.2
Kidney4.95
Leukemia_chronicMyelogenousK-5625.2
Leukemia_promyelocytic-HL-605.15
Leukemialymphoblastic(MOLT-4)5.3
Liver8.85
Lung6.35
Lymphnode4.9
Lymphoma_burkitts(Daudi)8
Lymphoma_burkitts(Raji)8.7
MedullaOblongata6.95
OccipitalLobe5.1
OlfactoryBulb4.5
Ovary4.35
Pancreas4.75
PancreaticIslet6.25
ParietalLobe6.45
Pituitary6.7
Placenta37
Pons5.6
PrefrontalCortex7.05
Prostate6.7
Salivarygland5
SkeletalMuscle7.75
Skin5.45
SmoothMuscle6.6
Spinalcord6.15
SubthalamicNucleus5.3
SuperiorCervicalGanglion9.75
TemporalLobe5.4
Testis5.4
TestisGermCell4.75
TestisIntersitial6.7
TestisLeydigCell6.2
TestisSeminiferousTubule5.4
Thalamus5.85
Thymus4.7
Thyroid7.85
Tongue5.95
Tonsil5.65
Trachea8.1
TrigeminalGanglion7.4
Uterus8.35
UterusCorpus6.2
WholeBlood17.75
Wholebrain4.9
colon5.9
pineal_day7.36
pineal_night9.7
retina8.075
small_intestine6.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9867_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
Amygdala6.48 ± 0.33
Basal Forebrain6.8 ± 0.45
Basal Part of Pons6.71 ± 0.31
Cerebellar Cortex7.1 ± 0.24
Cerebellar Nuclei6.76 ± 0.24
Claustrum6.6 ± 0.62
Epithalamus6.64 ± 0.37
Frontal Lobe6.5 ± 0.33
Globus Pallidus6.77 ± 0.49
Hypothalamus6.54 ± 0.36
Insula6.43 ± 0.16
Limbic Lobe6.66 ± 0.36
Mesencephalon6.59 ± 0.35
Myelencephalon6.63 ± 0.36
Occipital Lobe7 ± 0.38
Parietal Lobe6.62 ± 0.29
Pontine Tegmentum6.63 ± 0.38
Striatum6.8 ± 0.45
Subthalamus6.55 ± 0.15
Temporal Lobe6.58 ± 0.27
Thalamus6.7 ± 0.39
White Matter7.69 ± 0.41
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ppm1dCBCerebellum40.49
43.44
Ppm1dCTXCerebral cortex4.82
3.58
Ppm1dHIPHippocampal region12.2
11.03
Ppm1dHPFHippocampal formation13.51
11.78
Ppm1dHYHypothalamus2.42
1.78
Ppm1dLSXLateral septal complex2.47
4.23
Ppm1dMBMidbrain1.12
1.69
Ppm1dMYMedulla4.54
5.23
Ppm1dOLFOlfactory bulb28.58
20.95
Ppm1dPPons4.77
6.45
Ppm1dPALPallidum1.34
1.04
Ppm1dRHPRetrohippocampal region15.93
12.84
Ppm1dsAMYStriatum-like amygdalar nuclei6.5
4.23
Ppm1dSTRStriatum7.39
5.13
Ppm1dSTRdStriatum dorsal region6.23
4.07
Ppm1dSTRvStriatum ventral region14.21
9.91
Ppm1dTHThalamus0.75
0.82
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PPM1D_HUMAN_43 30 43 72 SLSQPLPPRPSPAALPGGEVSGKGPAVAAR 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