AutismKB 2.0

Annotation Detail for PPIP5K2


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Basic Information Top
Gene Symbol:PPIP5K2 ( FLJ21506,FLJ23463,HISPPD1,IP7K2,KIAA0433,VIP2 )
Gene Full Name: diphosphoinositol pentakisphosphate kinase 2
Band: 5q21.1
Quick LinksEntrez ID:23262; OMIM: 611648; Uniprot ID:VIP2_HUMAN; ENSEMBL ID: ENSG00000145725; HGNC ID: 29035
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 body3 / 7076142
blastocyst7 / 62319112
fetus32 / 56401256
neonate2 / 3109764
infant1 / 2362042
juvenile1 / 5555617
adult64 / 193912133
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) tumor2 / 9417821
cervical tumor1 / 3436629
chondrosarcoma6 / 8282372
colorectal tumor5 / 11424643
esophageal tumor2 / 17290115
gastrointestinal tumor1 / 1193698
germ cell tumor13 / 26384549
glioma1 / 1068839
head and neck tumor6 / 13630244
kidney tumor2 / 6895929
leukemia8 / 9584283
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal130 / 336030738
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer1 / 1026809
retinoblastoma3 / 4635664
skin tumor13 / 124949104
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor6 / 9025766
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
blood5 / 12347840
bone7 / 7165597
bone marrow7 / 48801143
brain25 / 110098922
cervix1 / 4817120
connective tissue3 / 14925520
ear1 / 1621261
embryonic tissue15 / 21572269
esophagus2 / 2020998
eye6 / 21105428
heart2 / 8962622
intestine8 / 23447234
kidney7 / 21177733
larynx0 / 241450 
liver6 / 20774328
lung10 / 33697429
lymph0 / 442700 
lymph node7 / 9161076
mammary gland7 / 15327145
mouth6 / 6705289
muscle6 / 10771555
nerve0 / 157680 
ovary1 / 1020519
pancreas10 / 21481246
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta6 / 28082521
prostate6 / 18934531
salivary gland1 / 2015549
skin13 / 21057461
spleen1 / 5395218
stomach1 / 9661910
testis15 / 33044245
thymus4 / 8113149
thyroid1 / 4747321
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord1 / 1368073
uterus16 / 23287868
vascular6 / 51780115
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203253_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts37.55
Adipocyte12.2
AdrenalCortex17.55
Adrenalgland11.15
Amygdala19.1
Appendix14.95
AtrioventricularNode12.85
BDCA4+_DentriticCells82.2
Bonemarrow16.15
BronchialEpithelialCells11.5
CD105+_Endothelial237.45
CD14+_Monocytes42.6
CD19+_BCells(neg._sel.)36.15
CD33+_Myeloid71.55
CD34+108.9
CD4+_Tcells13.4
CD56+_NKCells25.85
CD71+_EarlyErythroid36.25
CD8+_Tcells26.1
CardiacMyocytes25.1
Caudatenucleus10.95
Cerebellum9.9
CerebellumPeduncles17
CiliaryGanglion14.15
CingulateCortex15.6
Colorectaladenocarcinoma12.8
DorsalRootGanglion15.95
FetalThyroid14.1
Fetalbrain42.8
Fetalliver32.1
Fetallung13.15
GlobusPallidus8.85
Heart20.95
Hypothalamus17.95
Kidney12.2
Leukemia_chronicMyelogenousK-56252.5
Leukemia_promyelocytic-HL-6011.65
Leukemialymphoblastic(MOLT-4)24
Liver16.55
Lung12.75
Lymphnode13.45
Lymphoma_burkitts(Daudi)21.95
Lymphoma_burkitts(Raji)18.6
MedullaOblongata12.5
OccipitalLobe11.15
OlfactoryBulb9.05
Ovary11.85
Pancreas11.8
PancreaticIslet14.1
ParietalLobe15
Pituitary15.2
Placenta10.4
Pons12.1
PrefrontalCortex25.45
Prostate13.75
Salivarygland10.9
SkeletalMuscle17.5
Skin11.1
SmoothMuscle24.2
Spinalcord21.9
SubthalamicNucleus11
SuperiorCervicalGanglion22.15
TemporalLobe12.05
Testis9.95
TestisGermCell9.05
TestisIntersitial9.95
TestisLeydigCell14.75
TestisSeminiferousTubule10.2
Thalamus13.4
Thymus9.3
Thyroid46.05
Tongue13.7
Tonsil16.7
Trachea10.3
TrigeminalGanglion20.25
Uterus26.9
UterusCorpus12.3
WholeBlood47.05
Wholebrain9.45
colon14.05
pineal_day38.46
pineal_night36.34
retina14.225
small_intestine11.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9368_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
Amygdala9.08 ± 0.28
Basal Forebrain9.31 ± 0.3
Basal Part of Pons9.23 ± 0.22
Cerebellar Cortex8.96 ± 0.4
Cerebellar Nuclei9.46 ± 0.32
Claustrum9.26 ± 0.43
Epithalamus8.95 ± 0.22
Frontal Lobe8.99 ± 0.35
Globus Pallidus9.23 ± 0.26
Hypothalamus9.16 ± 0.27
Insula8.87 ± 0.36
Limbic Lobe9.06 ± 0.31
Mesencephalon9.26 ± 0.4
Myelencephalon9.03 ± 0.36
Occipital Lobe9.32 ± 0.26
Parietal Lobe9.22 ± 0.31
Pontine Tegmentum9.05 ± 0.35
Striatum8.77 ± 0.23
Subthalamus9.27 ± 0
Temporal Lobe8.99 ± 0.35
Thalamus9.01 ± 0.25
White Matter9.08 ± 0.45
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Hisppd1CBCerebellum6.93
6.73
Hisppd1CTXCerebral cortex47.74
18.82
Hisppd1HIPHippocampal region10.39
6.98
Hisppd1HPFHippocampal formation19.98
10.62
Hisppd1HYHypothalamus25.4
10.3
Hisppd1LSXLateral septal complex12.61
4.4
Hisppd1MBMidbrain30.26
17.57
Hisppd1MYMedulla46.72
38.73
Hisppd1OLFOlfactory bulb27.98
12.24
Hisppd1PPons39.12
30.13
Hisppd1PALPallidum27.48
15
Hisppd1RHPRetrohippocampal region39.41
16.95
Hisppd1sAMYStriatum-like amygdalar nuclei13.55
5.04
Hisppd1STRStriatum15.07
5.83
Hisppd1STRdStriatum dorsal region15.7
5.86
Hisppd1STRvStriatum ventral region15.39
6.83
Hisppd1THThalamus15.55
6.92
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00064115 21 1181 1201 ASSKPATSGPSSAVVPNTSSR 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