AutismKB 2.0

Annotation Detail for PGAP1


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Basic Information Top
Gene Symbol:PGAP1 ( Bst1,FLJ42774,ISPD3024 )
Gene Full Name: post-GPI attachment to proteins 1
Band: 2q33.1
Quick LinksEntrez ID:80055; OMIM: 611655; Uniprot ID:PGAP1_HUMAN; ENSEMBL ID: ENSG00000197121; HGNC ID: 25712
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 body1 / 7076114
blastocyst2 / 6231932
fetus24 / 56401242
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult60 / 193912130
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor3 / 11424626
esophageal tumor1 / 1729057
gastrointestinal tumor5 / 11936941
germ cell tumor12 / 26384545
glioma1 / 1068839
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal103 / 336030730
ovarian tumor3 / 7668239
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites2 / 4001549
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain47 / 110098942
cervix0 / 481710 
connective tissue0 / 1492550 
ear8 / 16212493
embryonic tissue6 / 21572227
esophagus1 / 2020949
eye0 / 2110540 
heart0 / 896260 
intestine6 / 23447225
kidney4 / 21177718
larynx0 / 241450 
liver2 / 2077439
lung4 / 33697411
lymph0 / 442700 
lymph node0 / 916100 
mammary gland6 / 15327139
mouth3 / 6705244
muscle5 / 10771546
nerve1 / 1576863
ovary3 / 10205129
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta7 / 28082524
prostate4 / 18934521
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach3 / 9661931
testis19 / 33044257
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus2 / 2328788
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213469_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.2
Adipocyte7.85
AdrenalCortex14.3
Adrenalgland7.75
Amygdala98.6
Appendix10.85
AtrioventricularNode10.5
BDCA4+_DentriticCells7.65
Bonemarrow9.65
BronchialEpithelialCells7.65
CD105+_Endothelial7.75
CD14+_Monocytes8.85
CD19+_BCells(neg._sel.)8.05
CD33+_Myeloid9.6
CD34+9.45
CD4+_Tcells8
CD56+_NKCells9.15
CD71+_EarlyErythroid7.85
CD8+_Tcells7.05
CardiacMyocytes17.9
Caudatenucleus9.35
Cerebellum6.75
CerebellumPeduncles10.65
CiliaryGanglion9.4
CingulateCortex9.4
Colorectaladenocarcinoma7.85
DorsalRootGanglion8.65
FetalThyroid8.8
Fetalbrain12.45
Fetalliver7.2
Fetallung6
GlobusPallidus7.6
Heart15.8
Hypothalamus32.75
Kidney8
Leukemia_chronicMyelogenousK-5627.05
Leukemia_promyelocytic-HL-607.15
Leukemialymphoblastic(MOLT-4)6.45
Liver14.15
Lung8.8
Lymphnode6.45
Lymphoma_burkitts(Daudi)11.2
Lymphoma_burkitts(Raji)13.45
MedullaOblongata7.6
OccipitalLobe7.55
OlfactoryBulb6.4
Ovary6.9
Pancreas7.45
PancreaticIslet9.1
ParietalLobe10.5
Pituitary17.75
Placenta7.4
Pons8.85
PrefrontalCortex13.05
Prostate8.95
Salivarygland7.1
SkeletalMuscle14.45
Skin9.25
SmoothMuscle9.7
Spinalcord12.85
SubthalamicNucleus9.35
SuperiorCervicalGanglion14.45
TemporalLobe8.15
Testis6.8
TestisGermCell6.35
TestisIntersitial7.15
TestisLeydigCell8.8
TestisSeminiferousTubule6.95
Thalamus9.45
Thymus5.7
Thyroid9.35
Tongue12.1
Tonsil8.25
Trachea6.55
TrigeminalGanglion12.35
Uterus6.75
UterusCorpus8.9
WholeBlood8.55
Wholebrain6.2
colon8.15
pineal_day12.28
pineal_night11.62
retina9.825
small_intestine9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P79247
  • 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
Amygdala7.57 ± 0.45
Basal Forebrain7.07 ± 0.36
Basal Part of Pons6.47 ± 0.3
Cerebellar Cortex6.82 ± 0.31
Cerebellar Nuclei6.13 ± 0.4
Claustrum6.73 ± 0.38
Epithalamus6.54 ± 0.59
Frontal Lobe6.79 ± 0.46
Globus Pallidus6.17 ± 0.28
Hypothalamus7.13 ± 0.52
Insula7.1 ± 0.37
Limbic Lobe7.37 ± 0.44
Mesencephalon6.89 ± 0.52
Myelencephalon6.83 ± 0.51
Occipital Lobe6.69 ± 0.36
Parietal Lobe6.68 ± 0.42
Pontine Tegmentum6.82 ± 0.45
Striatum6.97 ± 0.47
Subthalamus6.8 ± 0.5
Temporal Lobe6.9 ± 0.41
Thalamus6.67 ± 0.45
White Matter6.23 ± 0.41
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
D230012E17RikCBCerebellum0.61
1.08
D230012E17RikCTXCerebral cortex0.58
1
D230012E17RikHIPHippocampal region0.32
0.54
D230012E17RikHPFHippocampal formation0.34
0.48
D230012E17RikHYHypothalamus0.21
0.41
D230012E17RikLSXLateral septal complex0.42
3.24
D230012E17RikMBMidbrain0.35
0.52
D230012E17RikMYMedulla0.82
0.97
D230012E17RikOLFOlfactory bulb0.34
0.44
D230012E17RikPPons0.31
0.4
D230012E17RikPALPallidum0.16
0.18
D230012E17RikRHPRetrohippocampal region0.26
0.26
D230012E17RiksAMYStriatum-like amygdalar nuclei0.09
0.13
D230012E17RikSTRStriatum0.17
0.47
D230012E17RikSTRdStriatum dorsal region0.19
0.25
D230012E17RikSTRvStriatum ventral region0.08
0.17
D230012E17RikTHThalamus0.43
0.44
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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