AutismKB 2.0

Annotation Detail for ProSAPiP1


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Basic Information Top
Gene Symbol:ProSAPiP1 ( KIAA0552 )
Gene Full Name: -
Band: 20p13
Quick LinksEntrez ID:9762; OMIM: 610484; Uniprot ID:PRIP1_HUMAN; ENSEMBL ID: ENSG00000088899; HGNC ID:
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
blastocyst1 / 6231916
fetus13 / 56401223
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult26 / 193912113
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor0 / 2638450 
glioma10 / 10688393
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal65 / 336030719
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain24 / 110098921
cervix0 / 481710 
connective tissue0 / 1492550 
ear1 / 1621261
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye19 / 21105490
heart1 / 8962611
intestine3 / 23447212
kidney2 / 2117779
larynx0 / 241450 
liver1 / 2077434
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta5 / 28082517
prostate2 / 18934510
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach2 / 9661920
testis1 / 3304423
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204447_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.8
Adipocyte18.85
AdrenalCortex22.1
Adrenalgland19.9
Amygdala95.65
Appendix20.4
AtrioventricularNode16.95
BDCA4+_DentriticCells10.1
Bonemarrow21.4
BronchialEpithelialCells13.65
CD105+_Endothelial14
CD14+_Monocytes10.8
CD19+_BCells(neg._sel.)11.65
CD33+_Myeloid12.4
CD34+12.15
CD4+_Tcells10.55
CD56+_NKCells11.1
CD71+_EarlyErythroid10.9
CD8+_Tcells9.5
CardiacMyocytes22.4
Caudatenucleus202.8
Cerebellum128.9
CerebellumPeduncles407.15
CiliaryGanglion16.2
CingulateCortex229.65
Colorectaladenocarcinoma21.75
DorsalRootGanglion14.8
FetalThyroid22.35
Fetalbrain38.15
Fetalliver16.5
Fetallung15.1
GlobusPallidus191
Heart32.3
Hypothalamus94
Kidney41.8
Leukemia_chronicMyelogenousK-56216.95
Leukemia_promyelocytic-HL-6016
Leukemialymphoblastic(MOLT-4)16.9
Liver27.75
Lung25.9
Lymphnode14.95
Lymphoma_burkitts(Daudi)23.8
Lymphoma_burkitts(Raji)28.5
MedullaOblongata269.45
OccipitalLobe154.25
OlfactoryBulb18.75
Ovary12.35
Pancreas21.8
PancreaticIslet41.8
ParietalLobe202.4
Pituitary23.65
Placenta22.45
Pons127.4
PrefrontalCortex732.05
Prostate24.65
Salivarygland25.55
SkeletalMuscle30.4
Skin16.95
SmoothMuscle16.8
Spinalcord38.8
SubthalamicNucleus308.6
SuperiorCervicalGanglion29.8
TemporalLobe240.7
Testis18.4
TestisGermCell14.15
TestisIntersitial17.05
TestisLeydigCell22.1
TestisSeminiferousTubule15.15
Thalamus44.8
Thymus13.95
Thyroid31.7
Tongue18.9
Tonsil19.45
Trachea28.15
TrigeminalGanglion24.65
Uterus16.55
UterusCorpus20.15
WholeBlood16.15
Wholebrain243.3
colon17.8
pineal_day675.02
pineal_night661.5
retina54.525
small_intestine17.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12351_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
Amygdala3.93 ± 0.65
Basal Forebrain3.4 ± 0.57
Basal Part of Pons3.53 ± 0.51
Cerebellar Cortex3.88 ± 0.45
Cerebellar Nuclei3.8 ± 0.42
Claustrum4.02 ± 0.65
Epithalamus3.2 ± 0.58
Frontal Lobe3.72 ± 0.6
Globus Pallidus3.47 ± 0.86
Hypothalamus3.43 ± 0.5
Insula3.69 ± 0.49
Limbic Lobe3.93 ± 0.55
Mesencephalon3.7 ± 0.61
Myelencephalon3.8 ± 0.6
Occipital Lobe3.9 ± 0.52
Parietal Lobe3.83 ± 0.58
Pontine Tegmentum3.71 ± 0.63
Striatum3.75 ± 0.62
Subthalamus3.94 ± 0.53
Temporal Lobe3.75 ± 0.6
Thalamus3.71 ± 0.58
White Matter3.27 ± 0.5
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Prosapip1CBCerebellum77.14
79.7
Prosapip1CTXCerebral cortex100
100
Prosapip1HIPHippocampal region100
100
Prosapip1HPFHippocampal formation100
100
Prosapip1HYHypothalamus77.45
65.86
Prosapip1LSXLateral septal complex86.16
86.02
Prosapip1MBMidbrain63.82
61.05
Prosapip1MYMedulla65.79
76.2
Prosapip1OLFOlfactory bulb92.91
92.5
Prosapip1PPons58.3
60.32
Prosapip1PALPallidum76.32
82.87
Prosapip1RHPRetrohippocampal region100
100
Prosapip1sAMYStriatum-like amygdalar nuclei93.11
89.25
Prosapip1STRStriatum100
100
Prosapip1STRdStriatum dorsal region100
100
Prosapip1STRvStriatum ventral region100
100
Prosapip1THThalamus71.97
64.87
Peptide Top

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