AutismKB 2.0

Annotation Detail for PITPNA


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Basic Information Top
Gene Symbol:PITPNA ( MGC99649,PI-TPalpha,PITPN,VIB1A )
Gene Full Name: phosphatidylinositol transfer protein, alpha
Band: 17p13.3
Quick LinksEntrez ID:5306; OMIM: 600174; Uniprot ID:PIPNA_HUMAN; ENSEMBL ID: ENSG00000174238; HGNC ID: 9001
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 body4 / 7076156
blastocyst6 / 6231996
fetus49 / 56401286
neonate0 / 310970 
infant1 / 2362042
juvenile2 / 5555635
adult229 / 1939121118
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor10 / 94178106
cervical tumor0 / 343660 
chondrosarcoma15 / 82823181
colorectal tumor12 / 114246105
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor30 / 263845113
glioma8 / 10688374
head and neck tumor11 / 13630280
kidney tumor8 / 68959116
leukemia4 / 9584241
liver tumor5 / 9635951
lung tumor5 / 10312748
lymphoma11 / 71755153
non-neoplasia19 / 97250195
normal292 / 336030786
ovarian tumor2 / 7668226
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer9 / 10268087
retinoblastoma10 / 46356215
skin tumor9 / 12494972
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor14 / 90257155
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland3 / 3319790
ascites1 / 4001524
bladder3 / 29757100
blood8 / 12347864
bone8 / 71655111
bone marrow1 / 4880120
brain69 / 110098962
cervix1 / 4817120
connective tissue12 / 14925580
ear1 / 1621261
embryonic tissue16 / 21572274
esophagus0 / 202090 
eye45 / 211054213
heart3 / 8962633
intestine22 / 23447293
kidney19 / 21177789
larynx1 / 2414541
liver8 / 20774338
lung30 / 33697489
lymph1 / 4427022
lymph node9 / 9161098
mammary gland21 / 153271137
mouth6 / 6705289
muscle0 / 1077150 
nerve1 / 1576863
ovary3 / 10205129
pancreas18 / 21481283
parathyroid5 / 20539243
pharynx2 / 4132848
pituitary gland3 / 16585180
placenta28 / 28082599
prostate21 / 189345110
salivary gland0 / 201550 
skin19 / 21057490
spleen1 / 5395218
stomach7 / 9661972
testis31 / 33044293
thymus4 / 8113149
thyroid22 / 47473463
tonsil1 / 1699958
trachea5 / 5241395
umbilical cord0 / 136800 
uterus32 / 232878137
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201191_at
Cell line Expression level Expression bar
721_B_lymphoblasts27.8
Adipocyte21.9
AdrenalCortex22.3
Adrenalgland15.7
Amygdala44.25
Appendix13.5
AtrioventricularNode11.95
BDCA4+_DentriticCells27.7
Bonemarrow15.05
BronchialEpithelialCells19.9
CD105+_Endothelial31.85
CD14+_Monocytes29.4
CD19+_BCells(neg._sel.)23.95
CD33+_Myeloid32.3
CD34+24.65
CD4+_Tcells18.7
CD56+_NKCells28.7
CD71+_EarlyErythroid23.2
CD8+_Tcells19.55
CardiacMyocytes23.45
Caudatenucleus21.3
Cerebellum65.65
CerebellumPeduncles69.4
CiliaryGanglion14.2
CingulateCortex48.35
Colorectaladenocarcinoma38.5
DorsalRootGanglion13.85
FetalThyroid20.15
Fetalbrain44.05
Fetalliver15.15
Fetallung18.75
GlobusPallidus25.9
Heart23.4
Hypothalamus91.55
Kidney18.8
Leukemia_chronicMyelogenousK-56217.1
Leukemia_promyelocytic-HL-6014.85
Leukemialymphoblastic(MOLT-4)13.6
Liver24.9
Lung22.9
Lymphnode14.65
Lymphoma_burkitts(Daudi)24.25
Lymphoma_burkitts(Raji)23.15
MedullaOblongata26.3
OccipitalLobe62.85
OlfactoryBulb20.45
Ovary13.3
Pancreas14.85
PancreaticIslet21
ParietalLobe63.85
Pituitary22.7
Placenta22.9
Pons24.85
PrefrontalCortex65.8
Prostate26.05
Salivarygland12.85
SkeletalMuscle21.75
Skin12.35
SmoothMuscle25.1
Spinalcord57.95
SubthalamicNucleus39.55
SuperiorCervicalGanglion18.1
TemporalLobe44.95
Testis18.7
TestisGermCell17.2
TestisIntersitial18.3
TestisLeydigCell18.85
TestisSeminiferousTubule18.45
Thalamus134.75
Thymus15.7
Thyroid34.25
Tongue21.9
Tonsil21.1
Trachea22.6
TrigeminalGanglion17.7
Uterus15.1
UterusCorpus17.65
WholeBlood27.05
Wholebrain82.45
colon22.2
pineal_day87.3
pineal_night89.44
retina372
small_intestine52
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P77887
  • 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
Amygdala8.81 ± 0.29
Basal Forebrain8.55 ± 0.31
Basal Part of Pons9.29 ± 0.21
Cerebellar Cortex8.59 ± 0.27
Cerebellar Nuclei9.15 ± 0.34
Claustrum9.15 ± 0.32
Epithalamus8.59 ± 0.34
Frontal Lobe8.77 ± 0.39
Globus Pallidus8.81 ± 0.37
Hypothalamus8.74 ± 0.36
Insula8.64 ± 0.42
Limbic Lobe8.75 ± 0.39
Mesencephalon8.7 ± 0.37
Myelencephalon8.75 ± 0.36
Occipital Lobe8.86 ± 0.32
Parietal Lobe8.89 ± 0.35
Pontine Tegmentum8.7 ± 0.27
Striatum8.38 ± 0.36
Subthalamus9.16 ± 0.02
Temporal Lobe8.76 ± 0.32
Thalamus8.86 ± 0.36
White Matter8 ± 0.42
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
PitpnaCBCerebellum100
100
PitpnaCTXCerebral cortex100
100
PitpnaHIPHippocampal region100
100
PitpnaHPFHippocampal formation100
100
PitpnaHYHypothalamus100
100
PitpnaLSXLateral septal complex100
100
PitpnaMBMidbrain70.72
100
PitpnaMYMedulla19.11
52.99
PitpnaOLFOlfactory bulb82.27
100
PitpnaPPons37.02
99.47
PitpnaPALPallidum100
100
PitpnaRHPRetrohippocampal region78.19
100
PitpnasAMYStriatum-like amygdalar nuclei99.12
100
PitpnaSTRStriatum100
100
PitpnaSTRdStriatum dorsal region100
100
PitpnaSTRvStriatum ventral region100
100
PitpnaTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00024317 9 87 95 AWNAYPYCR Peptide Atlas
PIPNA_HUMAN_0 0 0 0 DYKAEEDPAKFK PRIDE
PIPNA_HUMAN_0 0 0 0 HVEAVYIDIADR PRIDE
PIPNA_HUMAN_0 0 0 0 VILPVSVDEYQVGQLYSVAEASK PRIDE
PIPNA_HUMAN_1 7 1 7 VLLKEYR PRIDE
PIPNA_HUMAN_152 12 152 163 DYKAEEDPAKFK PRIDE
PIPNA_HUMAN_2 7 2 8 VLLKEYR PRIDE
PIPNA_HUMAN_258 12 258 269 QKDPVKGMTADD PRIDE
PIPNA_HUMAN_8 23 8 30 VILPVSVDEYQVGQLYSVAEASK 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


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