AutismKB 2.0

Annotation Detail for INPP5E


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Basic Information Top
Gene Symbol:INPP5E ( CORS1,JBTS1,MGC117201,MORMS,PPI5PIV )
Gene Full Name: inositol polyphosphate-5-phosphatase, 72 kDa
Band: 9q34.3
Quick LinksEntrez ID:56623; OMIM: 613037; Uniprot ID:INP5E_HUMAN; ENSEMBL ID: ENSG00000148384; HGNC ID: 21474
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 body5 / 7076170
blastocyst2 / 6231932
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult31 / 193912115
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma5 / 10688346
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal61 / 336030718
ovarian tumor3 / 7668239
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood1 / 1234788
bone1 / 7165513
bone marrow2 / 4880140
brain11 / 11009899
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus0 / 202090 
eye5 / 21105423
heart0 / 896260 
intestine3 / 23447212
kidney0 / 2117770 
larynx0 / 241450 
liver2 / 2077439
lung7 / 33697420
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth2 / 6705229
muscle1 / 1077159
nerve1 / 1576863
ovary4 / 10205139
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate1 / 1893455
salivary gland0 / 201550 
skin7 / 21057433
spleen0 / 539520 
stomach1 / 9661910
testis3 / 3304429
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204706_at
Cell line Expression level Expression bar
721_B_lymphoblasts64.8
Adipocyte30.3
AdrenalCortex40.75
Adrenalgland33.55
Amygdala44.6
Appendix39.55
AtrioventricularNode30.55
BDCA4+_DentriticCells48.7
Bonemarrow35.1
BronchialEpithelialCells26.5
CD105+_Endothelial39.25
CD14+_Monocytes23.3
CD19+_BCells(neg._sel.)73.7
CD33+_Myeloid51.4
CD34+124.9
CD4+_Tcells104.6
CD56+_NKCells49.75
CD71+_EarlyErythroid28.85
CD8+_Tcells71.25
CardiacMyocytes44
Caudatenucleus34.05
Cerebellum32.8
CerebellumPeduncles45.35
CiliaryGanglion25.3
CingulateCortex49.7
Colorectaladenocarcinoma46.25
DorsalRootGanglion27.5
FetalThyroid46.9
Fetalbrain105.3
Fetalliver29.75
Fetallung35.45
GlobusPallidus30.25
Heart46.4
Hypothalamus44.5
Kidney29.5
Leukemia_chronicMyelogenousK-56238.1
Leukemia_promyelocytic-HL-6061
Leukemialymphoblastic(MOLT-4)36.65
Liver39.65
Lung47.95
Lymphnode59.05
Lymphoma_burkitts(Daudi)65.45
Lymphoma_burkitts(Raji)107.1
MedullaOblongata37.65
OccipitalLobe39.95
OlfactoryBulb42.75
Ovary22.85
Pancreas22.55
PancreaticIslet32.3
ParietalLobe39.95
Pituitary40.2
Placenta31.55
Pons34.6
PrefrontalCortex54.15
Prostate44.75
Salivarygland20.8
SkeletalMuscle48.45
Skin35.75
SmoothMuscle22.85
Spinalcord42.7
SubthalamicNucleus36.2
SuperiorCervicalGanglion58.45
TemporalLobe36.15
Testis71.2
TestisGermCell74.15
TestisIntersitial36.1
TestisLeydigCell50.95
TestisSeminiferousTubule51.8
Thalamus40.6
Thymus41.2
Thyroid41.65
Tongue39.65
Tonsil37.65
Trachea25.75
TrigeminalGanglion39.95
Uterus29.2
UterusCorpus35.95
WholeBlood22.95
Wholebrain36.4
colon26.3
pineal_day71.94
pineal_night54.22
retina46.175
small_intestine13.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P94875
  • 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
Amygdala2.47 ± 0.95
Basal Forebrain2.21 ± 0.27
Basal Part of Pons1.99 ± 0.82
Cerebellar Cortex2.51 ± 0.81
Cerebellar Nuclei2.38 ± 0.62
Claustrum2.96 ± 0.76
Epithalamus1.98 ± 0.66
Frontal Lobe2.27 ± 0.74
Globus Pallidus2.25 ± 0.6
Hypothalamus2.05 ± 0.49
Insula2.01 ± 0.74
Limbic Lobe2.27 ± 0.83
Mesencephalon2.42 ± 0.81
Myelencephalon2.29 ± 0.7
Occipital Lobe2.27 ± 0.75
Parietal Lobe2.35 ± 0.75
Pontine Tegmentum2.22 ± 0.74
Striatum1.87 ± 0.87
Subthalamus2.23 ± 0.85
Temporal Lobe2.19 ± 0.71
Thalamus2.2 ± 0.64
White Matter2.34 ± 0.62
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Inpp5eCBCerebellum22.32
38.32
Inpp5eCTXCerebral cortex9.94
6.96
Inpp5eHIPHippocampal region7.59
6.85
Inpp5eHPFHippocampal formation8.73
7.12
Inpp5eHYHypothalamus1.62
1.1
Inpp5eLSXLateral septal complex0.8
0.53
Inpp5eMBMidbrain3.57
3.49
Inpp5eMYMedulla7.69
8.28
Inpp5eOLFOlfactory bulb9.69
7.35
Inpp5ePPons4
4.23
Inpp5ePALPallidum2.07
1.71
Inpp5eRHPRetrohippocampal region10.87
7.65
Inpp5esAMYStriatum-like amygdalar nuclei1.1
1.03
Inpp5eSTRStriatum2.66
1.87
Inpp5eSTRdStriatum dorsal region3.63
2.56
Inpp5eSTRvStriatum ventral region0.95
0.66
Inpp5eTHThalamus4.52
3.45
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