AutismKB 2.0

Annotation Detail for PPFIBP2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PPFIBP2 ( Cclp1,DKFZp781K06126,MGC42541 )
Gene Full Name: PTPRF interacting protein, binding protein 2 (liprin beta 2)
Band: 11p15.4
Quick LinksEntrez ID:8495; OMIM: 603142; Uniprot ID:LIPB2_HUMAN; ENSEMBL ID: ENSG00000166387; HGNC ID: 9250
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
blastocyst1 / 6231916
fetus32 / 56401256
neonate3 / 3109796
infant0 / 236200 
juvenile4 / 5555671
adult119 / 193912161
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma3 / 17475171
breast (mammary gland) tumor6 / 9417863
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor27 / 114246236
esophageal tumor3 / 17290173
gastrointestinal tumor1 / 1193698
germ cell tumor3 / 26384511
glioma1 / 1068839
head and neck tumor17 / 136302124
kidney tumor5 / 6895972
leukemia2 / 9584220
liver tumor5 / 9635951
lung tumor0 / 1031270 
lymphoma20 / 71755278
non-neoplasia5 / 9725051
normal187 / 336030755
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer6 / 10268058
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder3 / 29757100
blood3 / 12347824
bone2 / 7165527
bone marrow0 / 488010 
brain64 / 110098958
cervix0 / 481710 
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus3 / 20209148
eye10 / 21105447
heart5 / 8962655
intestine31 / 234472132
kidney13 / 21177761
larynx1 / 2414541
liver6 / 20774328
lung10 / 33697429
lymph15 / 44270338
lymph node6 / 9161065
mammary gland15 / 15327197
mouth7 / 67052104
muscle1 / 1077159
nerve1 / 1576863
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid4 / 20539194
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta23 / 28082581
prostate10 / 18934552
salivary gland0 / 201550 
skin10 / 21057447
spleen2 / 5395237
stomach1 / 9661910
testis52 / 330442157
thymus1 / 8113112
thyroid10 / 47473210
tonsil0 / 169990 
trachea8 / 52413152
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212841_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts31
Adipocyte5.05
AdrenalCortex5.5
Adrenalgland4.45
Amygdala5
Appendix5.1
AtrioventricularNode4.85
BDCA4+_DentriticCells5.85
Bonemarrow4.95
BronchialEpithelialCells4.7
CD105+_Endothelial5.1
CD14+_Monocytes22.9
CD19+_BCells(neg._sel.)20.25
CD33+_Myeloid14.65
CD34+6.1
CD4+_Tcells5.75
CD56+_NKCells6.2
CD71+_EarlyErythroid4.8
CD8+_Tcells5.65
CardiacMyocytes6.8
Caudatenucleus4.65
Cerebellum4.05
CerebellumPeduncles5.7
CiliaryGanglion3.75
CingulateCortex5.2
Colorectaladenocarcinoma4.9
DorsalRootGanglion4
FetalThyroid12.4
Fetalbrain4.7
Fetalliver4.45
Fetallung4.25
GlobusPallidus3.8
Heart6.5
Hypothalamus8.05
Kidney4.35
Leukemia_chronicMyelogenousK-5624.5
Leukemia_promyelocytic-HL-604.6
Leukemialymphoblastic(MOLT-4)3.8
Liver7.3
Lung5.45
Lymphnode4.55
Lymphoma_burkitts(Daudi)6.6
Lymphoma_burkitts(Raji)13.85
MedullaOblongata4.8
OccipitalLobe4.45
OlfactoryBulb4.25
Ovary3.45
Pancreas4.15
PancreaticIslet5.4
ParietalLobe5.6
Pituitary5.9
Placenta5.3
Pons4.85
PrefrontalCortex6.15
Prostate7.7
Salivarygland13.25
SkeletalMuscle6.65
Skin8.35
SmoothMuscle5.8
Spinalcord6.25
SubthalamicNucleus4.75
SuperiorCervicalGanglion5.8
TemporalLobe4.6
Testis25.15
TestisGermCell17.5
TestisIntersitial9.75
TestisLeydigCell11.55
TestisSeminiferousTubule13.85
Thalamus5.25
Thymus4
Thyroid30
Tongue5.5
Tonsil5.4
Trachea4.35
TrigeminalGanglion5.05
Uterus3.95
UterusCorpus4.55
WholeBlood5.35
Wholebrain4.05
colon5.3
pineal_day6.3
pineal_night6.18
retina13.225
small_intestine5.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P409623
  • 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
Amygdala4.18 ± 0.58
Basal Forebrain4.68 ± 0.47
Basal Part of Pons4.78 ± 0.53
Cerebellar Cortex4.43 ± 0.32
Cerebellar Nuclei5.51 ± 0.48
Claustrum3.91 ± 0.69
Epithalamus4.53 ± 0.66
Frontal Lobe4.61 ± 0.64
Globus Pallidus6.12 ± 0.4
Hypothalamus4.22 ± 0.6
Insula4.45 ± 0.43
Limbic Lobe4.21 ± 0.7
Mesencephalon4.81 ± 0.76
Myelencephalon4.62 ± 0.64
Occipital Lobe4.48 ± 0.79
Parietal Lobe4.41 ± 0.78
Pontine Tegmentum4.56 ± 0.65
Striatum5.13 ± 0.69
Subthalamus4.23 ± 0.47
Temporal Lobe4.4 ± 0.54
Thalamus5.06 ± 0.53
White Matter6.95 ± 0.39
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ppfibp2CBCerebellum2.1
2.45
Ppfibp2CTXCerebral cortex1.31
1.01
Ppfibp2HIPHippocampal region0.82
0.76
Ppfibp2HPFHippocampal formation1
0.92
Ppfibp2HYHypothalamus0.18
0.15
Ppfibp2LSXLateral septal complex0.17
0.16
Ppfibp2MBMidbrain0.57
0.5
Ppfibp2MYMedulla3.85
3.35
Ppfibp2OLFOlfactory bulb1.32
1.02
Ppfibp2PPons0.83
0.9
Ppfibp2PALPallidum0.13
0.08
Ppfibp2RHPRetrohippocampal region1.29
1.14
Ppfibp2sAMYStriatum-like amygdalar nuclei0.11
0.05
Ppfibp2STRStriatum0.66
0.48
Ppfibp2STRdStriatum dorsal region0.92
0.67
Ppfibp2STRvStriatum ventral region0.15
0.15
Ppfibp2THThalamus0.72
0.86
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00433249 18 685 702 CAIHVLHVNKFNPHCLHR 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