AutismKB 2.0

Annotation Detail for PPFIA1


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Basic Information Top
Gene Symbol:PPFIA1 ( FLJ41337,FLJ42630,FLJ43474,LIP.1,LIP1,LIPRIN,MGC26800 )
Gene Full Name: protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1
Band: 11q13.3
Quick LinksEntrez ID:8500; OMIM: 611054; Uniprot ID:LIPA1_HUMAN; ENSEMBL ID: ENSG00000131626; HGNC ID: 9245
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 body6 / 7076184
blastocyst5 / 6231980
fetus47 / 56401283
neonate1 / 3109732
infant0 / 236200 
juvenile2 / 5555635
adult127 / 193912165
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor4 / 9417842
cervical tumor6 / 34366174
chondrosarcoma10 / 82823120
colorectal tumor4 / 11424635
esophageal tumor1 / 1729057
gastrointestinal tumor8 / 11936967
germ cell tumor12 / 26384545
glioma4 / 10688337
head and neck tumor18 / 136302132
kidney tumor2 / 6895929
leukemia3 / 9584231
liver tumor3 / 9635931
lung tumor3 / 10312729
lymphoma4 / 7175555
non-neoplasia7 / 9725071
normal175 / 336030752
ovarian tumor0 / 766820 
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer6 / 10268058
retinoblastoma3 / 4635664
skin tumor11 / 12494988
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder2 / 2975767
blood3 / 12347824
bone7 / 7165597
bone marrow0 / 488010 
brain36 / 110098932
cervix6 / 48171124
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue12 / 21572255
esophagus1 / 2020949
eye14 / 21105466
heart4 / 8962644
intestine11 / 23447246
kidney4 / 21177718
larynx5 / 24145207
liver8 / 20774338
lung15 / 33697444
lymph2 / 4427045
lymph node8 / 9161087
mammary gland11 / 15327171
mouth7 / 67052104
muscle1 / 1077159
nerve2 / 15768126
ovary0 / 1020510 
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta17 / 28082560
prostate9 / 18934547
salivary gland0 / 201550 
skin22 / 210574104
spleen1 / 5395218
stomach6 / 9661962
testis34 / 330442102
thymus7 / 8113186
thyroid5 / 47473105
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus12 / 23287851
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210235_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.9
Adipocyte5.35
AdrenalCortex5.65
Adrenalgland4.5
Amygdala5.7
Appendix5.4
AtrioventricularNode4.1
BDCA4+_DentriticCells6.45
Bonemarrow5.3
BronchialEpithelialCells5.35
CD105+_Endothelial5.5
CD14+_Monocytes5.8
CD19+_BCells(neg._sel.)5.8
CD33+_Myeloid13.65
CD34+6.95
CD4+_Tcells5.95
CD56+_NKCells7.75
CD71+_EarlyErythroid5.8
CD8+_Tcells5.7
CardiacMyocytes6.75
Caudatenucleus4.8
Cerebellum4.35
CerebellumPeduncles6.1
CiliaryGanglion3.85
CingulateCortex5.5
Colorectaladenocarcinoma5.4
DorsalRootGanglion4.1
FetalThyroid5.15
Fetalbrain5.35
Fetalliver4.65
Fetallung4.6
GlobusPallidus3.9
Heart6.75
Hypothalamus5.95
Kidney4.35
Leukemia_chronicMyelogenousK-5624.9
Leukemia_promyelocytic-HL-604.75
Leukemialymphoblastic(MOLT-4)4.35
Liver7.05
Lung5.85
Lymphnode4.6
Lymphoma_burkitts(Daudi)6.9
Lymphoma_burkitts(Raji)7.5
MedullaOblongata4.95
OccipitalLobe4.85
OlfactoryBulb4.25
Ovary3.6
Pancreas4.3
PancreaticIslet5.75
ParietalLobe5.65
Pituitary6.35
Placenta5.7
Pons5.1
PrefrontalCortex6.7
Prostate6.3
Salivarygland4.25
SkeletalMuscle6.15
Skin4.15
SmoothMuscle6.15
Spinalcord5.65
SubthalamicNucleus4.85
SuperiorCervicalGanglion6.05
TemporalLobe4.9
Testis11.5
TestisGermCell12.35
TestisIntersitial34.55
TestisLeydigCell13.9
TestisSeminiferousTubule7.2
Thalamus5.45
Thymus4.25
Thyroid6.7
Tongue5.25
Tonsil5.2
Trachea4.5
TrigeminalGanglion5.3
Uterus4.4
UterusCorpus4.8
WholeBlood5.7
Wholebrain4.6
colon5.4
pineal_day6.8
pineal_night6.78
retina6.6
small_intestine5.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P75516
  • 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
Amygdala4.08 ± 0.55
Basal Forebrain4.23 ± 0.34
Basal Part of Pons3.82 ± 0.39
Cerebellar Cortex4.34 ± 0.32
Cerebellar Nuclei4.07 ± 0.51
Claustrum3.72 ± 0.74
Epithalamus4.36 ± 0.58
Frontal Lobe3.99 ± 0.53
Globus Pallidus4.54 ± 0.44
Hypothalamus4.01 ± 0.4
Insula3.94 ± 0.51
Limbic Lobe3.75 ± 0.52
Mesencephalon4.15 ± 0.57
Myelencephalon4.04 ± 0.53
Occipital Lobe4.24 ± 0.46
Parietal Lobe3.97 ± 0.53
Pontine Tegmentum4.07 ± 0.51
Striatum4.05 ± 0.57
Subthalamus4.08 ± 0.39
Temporal Lobe3.94 ± 0.48
Thalamus4.17 ± 0.51
White Matter4.31 ± 0.42
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ppfia1CBCerebellum35.58
46.19
Ppfia1CTXCerebral cortex10.58
7.43
Ppfia1HIPHippocampal region16.13
15.89
Ppfia1HPFHippocampal formation19.51
17.36
Ppfia1HYHypothalamus5.74
6.23
Ppfia1LSXLateral septal complex1.23
0.88
Ppfia1MBMidbrain4.82
3.83
Ppfia1MYMedulla9.07
8.26
Ppfia1OLFOlfactory bulb18.63
13.25
Ppfia1PPons5.38
4.25
Ppfia1PALPallidum1.57
1.22
Ppfia1RHPRetrohippocampal region26.82
20.78
Ppfia1sAMYStriatum-like amygdalar nuclei2.5
1.76
Ppfia1STRStriatum5.08
3.85
Ppfia1STRdStriatum dorsal region6.47
5.19
Ppfia1STRvStriatum ventral region3.21
1.78
Ppfia1THThalamus6.7
6.79
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
LIPA1_HUMAN_1113 12 1113 1124 EFNNLLVMGTDR PRIDE
LIPA1_HUMAN_936 19 936 954 LAIQEIMSLTSPSAPPTSR PRIDE
PAp00041550 12 123 134 LLLEHLECLVSR 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