AutismKB 2.0

Annotation Detail for PAFAH1B1


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Basic Information Top
Gene Symbol:PAFAH1B1 ( LIS1,LIS2,MDCR,MDS,PAFAH )
Gene Full Name: platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
Band: 17p13.3
Quick LinksEntrez ID:5048; OMIM: 601545; Uniprot ID:LIS1_HUMAN; ENSEMBL ID: ENSG00000007168; HGNC ID: 8574
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 body17 / 70761240
blastocyst7 / 62319112
fetus129 / 564012228
neonate5 / 31097160
infant1 / 2362042
juvenile8 / 55556143
adult262 / 1939121135
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma0 / 174750 
breast (mammary gland) tumor6 / 9417863
cervical tumor5 / 34366145
chondrosarcoma16 / 82823193
colorectal tumor11 / 11424696
esophageal tumor0 / 172900 
gastrointestinal tumor14 / 119369117
germ cell tumor26 / 26384598
glioma1 / 1068839
head and neck tumor15 / 136302110
kidney tumor9 / 68959130
leukemia3 / 9584231
liver tumor16 / 96359166
lung tumor6 / 10312758
lymphoma5 / 7175569
non-neoplasia13 / 97250133
normal579 / 3360307172
ovarian tumor4 / 7668252
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer16 / 102680155
retinoblastoma3 / 4635664
skin tumor11 / 12494988
soft tissue/muscle tissue tumor32 / 125191255
uterine tumor17 / 90257188
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland3 / 3319790
ascites8 / 40015199
bladder1 / 2975733
blood5 / 12347840
bone16 / 71655223
bone marrow1 / 4880120
brain277 / 1100989251
cervix5 / 48171103
connective tissue26 / 149255174
ear1 / 1621261
embryonic tissue36 / 215722166
esophagus0 / 202090 
eye43 / 211054203
heart10 / 89626111
intestine24 / 234472102
kidney19 / 21177789
larynx3 / 24145124
liver17 / 20774381
lung43 / 336974127
lymph3 / 4427067
lymph node14 / 91610152
mammary gland11 / 15327171
mouth3 / 6705244
muscle7 / 10771564
nerve4 / 15768253
ovary5 / 10205148
pancreas13 / 21481260
parathyroid2 / 2053997
pharynx6 / 41328145
pituitary gland2 / 16585120
placenta30 / 280825106
prostate26 / 189345137
salivary gland1 / 2015549
skin20 / 21057494
spleen3 / 5395255
stomach7 / 9661972
testis55 / 330442166
thymus14 / 81131172
thyroid7 / 47473147
tonsil0 / 169990 
trachea11 / 52413209
umbilical cord2 / 13680146
uterus42 / 232878180
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200813_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts41.55
Adipocyte40.8
AdrenalCortex22.3
Adrenalgland15.9
Amygdala265.3
Appendix17.6
AtrioventricularNode10.65
BDCA4+_DentriticCells50.65
Bonemarrow12.05
BronchialEpithelialCells17.95
CD105+_Endothelial13.9
CD14+_Monocytes27.7
CD19+_BCells(neg._sel.)24.5
CD33+_Myeloid41.5
CD34+23.2
CD4+_Tcells129.3
CD56+_NKCells51.95
CD71+_EarlyErythroid19.3
CD8+_Tcells107.4
CardiacMyocytes48.75
Caudatenucleus141.05
Cerebellum113.35
CerebellumPeduncles201.5
CiliaryGanglion8.05
CingulateCortex210.75
Colorectaladenocarcinoma40.25
DorsalRootGanglion29.5
FetalThyroid15.2
Fetalbrain259.6
Fetalliver14.25
Fetallung31.65
GlobusPallidus183.3
Heart21.85
Hypothalamus384.7
Kidney12.5
Leukemia_chronicMyelogenousK-56212.15
Leukemia_promyelocytic-HL-6012.8
Leukemialymphoblastic(MOLT-4)16.6
Liver11.55
Lung12.35
Lymphnode15.5
Lymphoma_burkitts(Daudi)31.45
Lymphoma_burkitts(Raji)24.05
MedullaOblongata249.15
OccipitalLobe363.05
OlfactoryBulb30.6
Ovary14.4
Pancreas13.8
PancreaticIslet21.7
ParietalLobe333.55
Pituitary150.75
Placenta26.75
Pons139.55
PrefrontalCortex215.5
Prostate13.2
Salivarygland19.25
SkeletalMuscle8.7
Skin9.5
SmoothMuscle32.25
Spinalcord132.95
SubthalamicNucleus224.85
SuperiorCervicalGanglion14.65
TemporalLobe138.1
Testis26.15
TestisGermCell73
TestisIntersitial41.45
TestisLeydigCell34.9
TestisSeminiferousTubule40.65
Thalamus260.15
Thymus14.45
Thyroid30.9
Tongue16.8
Tonsil33.95
Trachea25.95
TrigeminalGanglion16.8
Uterus29.4
UterusCorpus20.2
WholeBlood47.8
Wholebrain131.25
colon38.5
pineal_day242.1
pineal_night296.08
retina99.2
small_intestine20.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P356406
  • 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
Amygdala10.81 ± 0.34
Basal Forebrain10.67 ± 0.27
Basal Part of Pons11.39 ± 0.23
Cerebellar Cortex11.08 ± 0.18
Cerebellar Nuclei10.97 ± 0.3
Claustrum11.08 ± 0.33
Epithalamus10.53 ± 0.45
Frontal Lobe11.14 ± 0.27
Globus Pallidus10 ± 0.29
Hypothalamus11.06 ± 0.23
Insula11.23 ± 0.31
Limbic Lobe10.93 ± 0.49
Mesencephalon10.78 ± 0.34
Myelencephalon10.87 ± 0.44
Occipital Lobe10.58 ± 0.52
Parietal Lobe10.99 ± 0.38
Pontine Tegmentum10.9 ± 0.34
Striatum10.43 ± 0.44
Subthalamus11.45 ± 0.37
Temporal Lobe11.08 ± 0.27
Thalamus10.86 ± 0.3
White Matter10.12 ± 0.22
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pafah1b1CBCerebellum100
100
Pafah1b1CTXCerebral cortex100
100
Pafah1b1HIPHippocampal region100
100
Pafah1b1HPFHippocampal formation100
100
Pafah1b1HYHypothalamus100
100
Pafah1b1LSXLateral septal complex100
100
Pafah1b1MBMidbrain100
100
Pafah1b1MYMedulla100
100
Pafah1b1OLFOlfactory bulb100
100
Pafah1b1PPons100
100
Pafah1b1PALPallidum100
100
Pafah1b1RHPRetrohippocampal region100
100
Pafah1b1sAMYStriatum-like amygdalar nuclei100
100
Pafah1b1STRStriatum100
100
Pafah1b1STRdStriatum dorsal region100
100
Pafah1b1STRvStriatum ventral region100
100
Pafah1b1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
LIS1_HUMAN_147 16 147 162 GHTDSVQDISFDHSGK PRIDE
LIS1_HUMAN_163 12 163 174 LLASCSADMTIK PRIDE
LIS1_HUMAN_175 11 175 185 LWDFQGFECIR PRIDE
LIS1_HUMAN_186 26 186 211 TMHGHDHNVSSVAIMPNGDHIVSASR PRIDE
LIS1_HUMAN_238 21 238 258 MVRPNQDGTLIASCSNDQTVR PRIDE
LIS1_HUMAN_33 13 33 45 EAELDVNEELDKK PRIDE
LIS1_HUMAN_390 15 390 404 TAPYVVTGSVDQTVK PRIDE
LIS1_HUMAN_6 7 6 12 QRDELNR PRIDE
PAp00005465 11 176 186 LWDFQGFECIR 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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