AutismKB 2.0

Annotation Detail for PPFIA2


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Basic Information Top
Gene Symbol:PPFIA2 ( FLJ41378,MGC132572 )
Gene Full Name: protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2
Band: 12q21.31
Quick LinksEntrez ID:8499; OMIM: 603143; Uniprot ID:LIPA2_HUMAN; ENSEMBL ID: ENSG00000139220; HGNC ID: 9246
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 body0 / 707610 
blastocyst0 / 623190 
fetus35 / 56401262
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult32 / 193912116
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor6 / 26384522
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal107 / 336030731
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer3 / 10268029
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain106 / 110098996
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye7 / 21105433
heart0 / 896260 
intestine0 / 2344720 
kidney3 / 21177714
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle6 / 10771555
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate3 / 18934515
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis14 / 33044242
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206973_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.35
Adipocyte5.4
AdrenalCortex6
Adrenalgland5
Amygdala19.7
Appendix5.7
AtrioventricularNode4.5
BDCA4+_DentriticCells5.6
Bonemarrow5.6
BronchialEpithelialCells5.25
CD105+_Endothelial5.6
CD14+_Monocytes5.85
CD19+_BCells(neg._sel.)5.8
CD33+_Myeloid7.3
CD34+6.9
CD4+_Tcells5.65
CD56+_NKCells6.45
CD71+_EarlyErythroid5.2
CD8+_Tcells5.3
CardiacMyocytes7.6
Caudatenucleus5.1
Cerebellum4.55
CerebellumPeduncles6.35
CiliaryGanglion4.1
CingulateCortex12.9
Colorectaladenocarcinoma5.45
DorsalRootGanglion4.35
FetalThyroid5.45
Fetalbrain26.3
Fetalliver4.85
Fetallung4.55
GlobusPallidus5.1
Heart7.55
Hypothalamus7.15
Kidney4.6
Leukemia_chronicMyelogenousK-5624.9
Leukemia_promyelocytic-HL-604.9
Leukemialymphoblastic(MOLT-4)4.25
Liver7.5
Lung5.9
Lymphnode4.5
Lymphoma_burkitts(Daudi)7.05
Lymphoma_burkitts(Raji)7.9
MedullaOblongata6.1
OccipitalLobe13.55
OlfactoryBulb4.25
Ovary3.75
Pancreas4.55
PancreaticIslet5.9
ParietalLobe12.15
Pituitary6.6
Placenta5.4
Pons6.15
PrefrontalCortex15.1
Prostate6.5
Salivarygland4.55
SkeletalMuscle7.5
Skin4.4
SmoothMuscle6.1
Spinalcord5.9
SubthalamicNucleus6.05
SuperiorCervicalGanglion7.45
TemporalLobe5.35
Testis4.8
TestisGermCell5.1
TestisIntersitial4.8
TestisLeydigCell5.55
TestisSeminiferousTubule4.85
Thalamus5.8
Thymus4.1
Thyroid6.6
Tongue5.55
Tonsil5.45
Trachea4.75
TrigeminalGanglion6.05
Uterus4.35
UterusCorpus5.05
WholeBlood6.05
Wholebrain4.95
colon5.5
pineal_day83.18
pineal_night46.8
retina6.575
small_intestine5.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_788_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
Amygdala8.41 ± 0.48
Basal Forebrain8.2 ± 0.18
Basal Part of Pons7.35 ± 0.35
Cerebellar Cortex7.4 ± 0.34
Cerebellar Nuclei7.25 ± 0.19
Claustrum8.73 ± 0.53
Epithalamus7.6 ± 0.43
Frontal Lobe7.82 ± 0.52
Globus Pallidus7.77 ± 0.68
Hypothalamus7.77 ± 0.32
Insula8.02 ± 0.32
Limbic Lobe8.27 ± 0.73
Mesencephalon8.07 ± 0.48
Myelencephalon7.89 ± 0.37
Occipital Lobe8.43 ± 0.5
Parietal Lobe8.06 ± 0.53
Pontine Tegmentum8.06 ± 0.5
Striatum7.86 ± 0.58
Subthalamus7.28 ± 0.3
Temporal Lobe8.18 ± 0.36
Thalamus7.85 ± 0.25
White Matter8.45 ± 0.41
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ppfia2CBCerebellum5.55
7.03
Ppfia2CTXCerebral cortex27.66
19.78
Ppfia2HIPHippocampal region61.22
93.83
Ppfia2HPFHippocampal formation54.66
71.8
Ppfia2HYHypothalamus2.54
1.87
Ppfia2LSXLateral septal complex3.41
2.43
Ppfia2MBMidbrain3.52
2.87
Ppfia2MYMedulla10.04
9.64
Ppfia2OLFOlfactory bulb36.21
27.8
Ppfia2PPons7.63
6.67
Ppfia2PALPallidum6.57
5.54
Ppfia2RHPRetrohippocampal region40.1
35.74
Ppfia2sAMYStriatum-like amygdalar nuclei14.81
9.87
Ppfia2STRStriatum7.1
4.78
Ppfia2STRdStriatum dorsal region6.3
4.45
Ppfia2STRvStriatum ventral region7.39
4.36
Ppfia2THThalamus7.83
7.01
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00041550 12 36 47 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


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