AutismKB 2.0

Annotation Detail for PIP4K2B


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Basic Information Top
Gene Symbol:PIP4K2B ( PI5P4KB,PIP5K2B,PIP5KIIB,PIP5KIIbeta )
Gene Full Name: phosphatidylinositol-5-phosphate 4-kinase, type II, beta
Band: 17q12
Quick LinksEntrez ID:8396; OMIM: 603261; Uniprot ID:PI42B_HUMAN; ENSEMBL ID: ENSG00000141720; HGNC ID: 8998
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 body8 / 70761113
blastocyst12 / 62319192
fetus91 / 564012161
neonate0 / 310970 
infant2 / 2362084
juvenile7 / 55556125
adult176 / 193912190
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) tumor7 / 9417874
cervical tumor0 / 343660 
chondrosarcoma6 / 8282372
colorectal tumor14 / 114246122
esophageal tumor0 / 172900 
gastrointestinal tumor15 / 119369125
germ cell tumor20 / 26384575
glioma33 / 106883308
head and neck tumor9 / 13630266
kidney tumor12 / 68959174
leukemia4 / 9584241
liver tumor6 / 9635962
lung tumor12 / 103127116
lymphoma3 / 7175541
non-neoplasia14 / 97250143
normal380 / 3360307113
ovarian tumor4 / 7668252
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS11 / 12568087
prostate cancer3 / 10268029
retinoblastoma5 / 46356107
skin tumor10 / 12494980
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor12 / 90257132
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites10 / 40015249
bladder1 / 2975733
blood2 / 12347816
bone3 / 7165541
bone marrow2 / 4880140
brain218 / 1100989198
cervix3 / 4817162
connective tissue12 / 14925580
ear2 / 16212123
embryonic tissue37 / 215722171
esophagus0 / 202090 
eye31 / 211054146
heart10 / 89626111
intestine23 / 23447298
kidney18 / 21177784
larynx1 / 2414541
liver9 / 20774343
lung30 / 33697489
lymph1 / 4427022
lymph node8 / 9161087
mammary gland13 / 15327184
mouth6 / 6705289
muscle4 / 10771537
nerve5 / 15768317
ovary7 / 10205168
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta12 / 28082542
prostate8 / 18934542
salivary gland0 / 201550 
skin21 / 21057499
spleen6 / 53952111
stomach4 / 9661941
testis27 / 33044281
thymus9 / 81131110
thyroid2 / 4747342
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus26 / 232878111
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201081_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts36.8
Adipocyte45.25
AdrenalCortex36.25
Adrenalgland30.3
Amygdala37.5
Appendix39.15
AtrioventricularNode48.85
BDCA4+_DentriticCells29.1
Bonemarrow37.15
BronchialEpithelialCells28.8
CD105+_Endothelial21.3
CD14+_Monocytes36.45
CD19+_BCells(neg._sel.)16.25
CD33+_Myeloid30.6
CD34+26.55
CD4+_Tcells34.6
CD56+_NKCells20.25
CD71+_EarlyErythroid26.65
CD8+_Tcells15.2
CardiacMyocytes37.75
Caudatenucleus36.95
Cerebellum67.35
CerebellumPeduncles72.4
CiliaryGanglion32.75
CingulateCortex51.7
Colorectaladenocarcinoma42.65
DorsalRootGanglion58.15
FetalThyroid33.2
Fetalbrain54.05
Fetalliver29.7
Fetallung22.55
GlobusPallidus29.65
Heart64
Hypothalamus40.9
Kidney34.15
Leukemia_chronicMyelogenousK-56229.3
Leukemia_promyelocytic-HL-6026.7
Leukemialymphoblastic(MOLT-4)28.45
Liver62.9
Lung35.75
Lymphnode36.45
Lymphoma_burkitts(Daudi)60.2
Lymphoma_burkitts(Raji)54.25
MedullaOblongata43.05
OccipitalLobe60.45
OlfactoryBulb27.4
Ovary50.5
Pancreas35.1
PancreaticIslet32.6
ParietalLobe51.65
Pituitary42.95
Placenta30.05
Pons41
PrefrontalCortex70.5
Prostate36.25
Salivarygland19.75
SkeletalMuscle45.45
Skin61.75
SmoothMuscle37
Spinalcord38.3
SubthalamicNucleus54.1
SuperiorCervicalGanglion65.25
TemporalLobe33.05
Testis26.75
TestisGermCell24.65
TestisIntersitial29.6
TestisLeydigCell33.95
TestisSeminiferousTubule31.8
Thalamus32.1
Thymus27.2
Thyroid28.35
Tongue35.25
Tonsil40.65
Trachea28.75
TrigeminalGanglion42.8
Uterus19.45
UterusCorpus25.4
WholeBlood32.5
Wholebrain40.05
colon25.85
pineal_day37.7
pineal_night40.82
retina37.25
small_intestine27.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P245246
  • 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
Amygdala12.38 ± 0.24
Basal Forebrain11.93 ± 0.1
Basal Part of Pons12.11 ± 0.28
Cerebellar Cortex11.86 ± 0.16
Cerebellar Nuclei11.6 ± 0.35
Claustrum12.47 ± 0.2
Epithalamus11.39 ± 0.33
Frontal Lobe11.98 ± 0.3
Globus Pallidus11.31 ± 0.27
Hypothalamus11.8 ± 0.34
Insula12.21 ± 0.17
Limbic Lobe12.2 ± 0.25
Mesencephalon11.91 ± 0.24
Myelencephalon11.99 ± 0.32
Occipital Lobe12.16 ± 0.26
Parietal Lobe12.07 ± 0.26
Pontine Tegmentum11.94 ± 0.23
Striatum11.91 ± 0.38
Subthalamus11.81 ± 0.18
Temporal Lobe12.14 ± 0.22
Thalamus11.91 ± 0.21
White Matter11.23 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pip5k2bHYHypothalamus82.83
75.89
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00033878 10 95 104 FKEYCPMVFR Peptide Atlas
PI42B_HUMAN_406 11 406 416 RFNEFMSNILT PRIDE

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