AutismKB 2.0

Annotation Detail for PAFAH1B2


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Basic Information Top
Gene Symbol:PAFAH1B2 ( - )
Gene Full Name: platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)
Band: 11q23
Quick LinksEntrez ID:5049; OMIM: 602508; Uniprot ID:PA1B2_HUMAN; ENSEMBL ID: ENSG00000168092; HGNC ID: 8575
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
blastocyst0 / 623190 
fetus42 / 56401274
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult103 / 193912153
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor7 / 9417874
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor4 / 11424635
esophageal tumor1 / 1729057
gastrointestinal tumor7 / 11936958
germ cell tumor10 / 26384537
glioma4 / 10688337
head and neck tumor10 / 13630273
kidney tumor3 / 6895943
leukemia5 / 9584252
liver tumor3 / 9635931
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia10 / 97250102
normal152 / 336030745
ovarian tumor5 / 7668265
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer4 / 10268038
retinoblastoma1 / 4635621
skin tumor5 / 12494940
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone1 / 7165513
bone marrow2 / 4880140
brain21 / 110098919
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus1 / 2020949
eye10 / 21105447
heart14 / 89626156
intestine13 / 23447255
kidney12 / 21177756
larynx0 / 241450 
liver6 / 20774328
lung14 / 33697441
lymph1 / 4427022
lymph node6 / 9161065
mammary gland12 / 15327178
mouth8 / 67052119
muscle2 / 10771518
nerve3 / 15768190
ovary6 / 10205158
pancreas15 / 21481269
parathyroid5 / 20539243
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta16 / 28082556
prostate12 / 18934563
salivary gland0 / 201550 
skin13 / 21057461
spleen0 / 539520 
stomach7 / 9661972
testis9 / 33044227
thymus1 / 8113112
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus18 / 23287877
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210160_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.7
Adipocyte9.85
AdrenalCortex11.65
Adrenalgland8.6
Amygdala10.15
Appendix13.7
AtrioventricularNode10.75
BDCA4+_DentriticCells9.35
Bonemarrow10.3
BronchialEpithelialCells9.55
CD105+_Endothelial9.3
CD14+_Monocytes9.8
CD19+_BCells(neg._sel.)9.7
CD33+_Myeloid11.2
CD34+12.5
CD4+_Tcells9.45
CD56+_NKCells9.7
CD71+_EarlyErythroid9.35
CD8+_Tcells7.45
CardiacMyocytes13
Caudatenucleus8.85
Cerebellum8.7
CerebellumPeduncles13.9
CiliaryGanglion12.8
CingulateCortex10.25
Colorectaladenocarcinoma9.6
DorsalRootGanglion11.4
FetalThyroid10.6
Fetalbrain9.95
Fetalliver8.9
Fetallung7.8
GlobusPallidus7.8
Heart13.5
Hypothalamus10.75
Kidney8.65
Leukemia_chronicMyelogenousK-5628.85
Leukemia_promyelocytic-HL-608.65
Leukemialymphoblastic(MOLT-4)7.8
Liver12.95
Lung10.65
Lymphnode8.35
Lymphoma_burkitts(Daudi)12.95
Lymphoma_burkitts(Raji)13.9
MedullaOblongata8.9
OccipitalLobe8.85
OlfactoryBulb7.8
Ovary7.5
Pancreas8.35
PancreaticIslet10.55
ParietalLobe11.15
Pituitary11.75
Placenta10.1
Pons11.45
PrefrontalCortex11.8
Prostate11.35
Salivarygland8.4
SkeletalMuscle18.95
Skin10.1
SmoothMuscle10.8
Spinalcord10.55
SubthalamicNucleus9.25
SuperiorCervicalGanglion12.8
TemporalLobe9.1
Testis8.85
TestisGermCell8.15
TestisIntersitial11.2
TestisLeydigCell10
TestisSeminiferousTubule10.4
Thalamus10.1
Thymus7.7
Thyroid11.6
Tongue11.2
Tonsil9.65
Trachea8.25
TrigeminalGanglion15.85
Uterus7.95
UterusCorpus8.75
WholeBlood10.65
Wholebrain8.15
colon9.85
pineal_day11.76
pineal_night10.7
retina11.85
small_intestine9.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14829_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
Amygdala8.09 ± 0.27
Basal Forebrain8.1 ± 0.24
Basal Part of Pons8.15 ± 0.2
Cerebellar Cortex8.1 ± 0.27
Cerebellar Nuclei8.24 ± 0.24
Claustrum8.03 ± 0.47
Epithalamus7.72 ± 0.2
Frontal Lobe7.92 ± 0.27
Globus Pallidus8.34 ± 0.2
Hypothalamus8.07 ± 0.28
Insula7.81 ± 0.26
Limbic Lobe8.08 ± 0.3
Mesencephalon8.08 ± 0.35
Myelencephalon8.03 ± 0.28
Occipital Lobe8.23 ± 0.28
Parietal Lobe8.04 ± 0.29
Pontine Tegmentum8.05 ± 0.26
Striatum7.96 ± 0.25
Subthalamus8.19 ± 0.17
Temporal Lobe7.97 ± 0.26
Thalamus8.04 ± 0.24
White Matter8.68 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pafah1b2CBCerebellum7.64
14
Pafah1b2CTXCerebral cortex77.49
85.94
Pafah1b2HIPHippocampal region78.18
100
Pafah1b2HPFHippocampal formation73.91
100
Pafah1b2HYHypothalamus89.2
100
Pafah1b2LSXLateral septal complex51.11
50.39
Pafah1b2MBMidbrain25.31
39.47
Pafah1b2MYMedulla16.98
36.74
Pafah1b2OLFOlfactory bulb57.25
75.37
Pafah1b2PPons29.2
58.74
Pafah1b2PALPallidum80.68
100
Pafah1b2RHPRetrohippocampal region64.06
75.85
Pafah1b2sAMYStriatum-like amygdalar nuclei99.55
100
Pafah1b2STRStriatum52.83
50.36
Pafah1b2STRdStriatum dorsal region42.45
38.47
Pafah1b2STRvStriatum ventral region67.5
65.5
Pafah1b2THThalamus59.94
74.83
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PA1B2_HUMAN_133 9 133 141 IIVLGLLPR PRIDE
PA1B2_HUMAN_2 22 2 23 SQGDSNPAAIPHAAEDIQGDDR PRIDE
PA1B2_HUMAN_204 20 204 223 ICKPLHELIMQLLEETPEEK PRIDE
PA1B2_HUMAN_60 19 60 78 ELFSPLHALNFGIGGDTTR PRIDE
PAp00003721 20 205 224 ICKPLHELIMQLLEETPEEK 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


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