AutismKB 2.0

Annotation Detail for PIKFYVE


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Basic Information Top
Gene Symbol:PIKFYVE ( CFD,FAB1,FLJ37746,KIAA0981,MGC40423,PIP5K,PIP5K3 )
Gene Full Name: phosphoinositide kinase, FYVE finger containing
Band: 2q34
Quick LinksEntrez ID:200576; OMIM: 609414; Uniprot ID:FYV1_HUMAN; ENSEMBL ID: ENSG00000115020; HGNC ID: 23785
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 body0 / 707610 
blastocyst4 / 6231964
fetus30 / 56401253
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult54 / 193912127
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor8 / 26384530
glioma0 / 1068830 
head and neck tumor3 / 13630222
kidney tumor3 / 6895943
leukemia5 / 9584252
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal127 / 336030737
ovarian tumor3 / 7668239
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer5 / 10268048
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder3 / 29757100
blood9 / 12347872
bone1 / 7165513
bone marrow2 / 4880140
brain24 / 110098921
cervix0 / 481710 
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye6 / 21105428
heart0 / 896260 
intestine4 / 23447217
kidney3 / 21177714
larynx1 / 2414541
liver11 / 20774352
lung5 / 33697414
lymph0 / 442700 
lymph node12 / 91610130
mammary gland1 / 1532716
mouth1 / 6705214
muscle6 / 10771555
nerve0 / 157680 
ovary3 / 10205129
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta10 / 28082535
prostate6 / 18934531
salivary gland1 / 2015549
skin10 / 21057447
spleen1 / 5395218
stomach2 / 9661920
testis13 / 33044239
thymus4 / 8113149
thyroid0 / 474730 
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus4 / 23287817
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213111_at
Cell line Expression level Expression bar
721_B_lymphoblasts176.05
Adipocyte20.05
AdrenalCortex19.2
Adrenalgland10.45
Amygdala100.7
Appendix19.8
AtrioventricularNode16.25
BDCA4+_DentriticCells117.05
Bonemarrow11.75
BronchialEpithelialCells19.05
CD105+_Endothelial82
CD14+_Monocytes64.9
CD19+_BCells(neg._sel.)286.6
CD33+_Myeloid194.95
CD34+320.5
CD4+_Tcells220.05
CD56+_NKCells141.75
CD71+_EarlyErythroid19.95
CD8+_Tcells237.15
CardiacMyocytes29
Caudatenucleus24.25
Cerebellum14.75
CerebellumPeduncles19.85
CiliaryGanglion16.35
CingulateCortex27.3
Colorectaladenocarcinoma20.25
DorsalRootGanglion13.35
FetalThyroid19
Fetalbrain65.3
Fetalliver6.35
Fetallung33
GlobusPallidus12.45
Heart19.4
Hypothalamus51.8
Kidney18.9
Leukemia_chronicMyelogenousK-562112.75
Leukemia_promyelocytic-HL-6048.45
Leukemialymphoblastic(MOLT-4)114.4
Liver17.7
Lung8.95
Lymphnode84.25
Lymphoma_burkitts(Daudi)28.7
Lymphoma_burkitts(Raji)50.1
MedullaOblongata19.85
OccipitalLobe31.1
OlfactoryBulb28.15
Ovary9.9
Pancreas17.8
PancreaticIslet44
ParietalLobe24.1
Pituitary23.7
Placenta9.45
Pons17.05
PrefrontalCortex78.15
Prostate29.05
Salivarygland18
SkeletalMuscle24.35
Skin15.45
SmoothMuscle20.6
Spinalcord39.15
SubthalamicNucleus20.2
SuperiorCervicalGanglion24.7
TemporalLobe14.1
Testis15.8
TestisGermCell63.7
TestisIntersitial48.2
TestisLeydigCell21.35
TestisSeminiferousTubule23.4
Thalamus26.25
Thymus18.35
Thyroid48.15
Tongue16.7
Tonsil60.75
Trachea12.6
TrigeminalGanglion20.35
Uterus61.45
UterusCorpus16.85
WholeBlood79.65
Wholebrain15.05
colon18.4
pineal_day164.04
pineal_night159.36
retina33.3
small_intestine15.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P400984
  • 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
Amygdala5.59 ± 0.4
Basal Forebrain5.59 ± 0.34
Basal Part of Pons5.62 ± 0.38
Cerebellar Cortex6.08 ± 0.29
Cerebellar Nuclei5.83 ± 0.42
Claustrum5.88 ± 0.52
Epithalamus5.79 ± 0.34
Frontal Lobe5.63 ± 0.4
Globus Pallidus5.63 ± 0.33
Hypothalamus5.49 ± 0.26
Insula5.59 ± 0.39
Limbic Lobe5.75 ± 0.41
Mesencephalon5.7 ± 0.52
Myelencephalon5.69 ± 0.45
Occipital Lobe6.16 ± 0.47
Parietal Lobe5.8 ± 0.36
Pontine Tegmentum5.74 ± 0.44
Striatum5.59 ± 0.39
Subthalamus5.76 ± 0.11
Temporal Lobe5.58 ± 0.36
Thalamus5.81 ± 0.34
White Matter6.45 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pip5k3CBCerebellum0
0
Pip5k3CTXCerebral cortex0
0
Pip5k3HIPHippocampal region0
0
Pip5k3HPFHippocampal formation0
0
Pip5k3HYHypothalamus0
0
Pip5k3LSXLateral septal complex0
0
Pip5k3MBMidbrain0
0
Pip5k3MYMedulla0
0
Pip5k3OLFOlfactory bulb0
0
Pip5k3PPons0
0
Pip5k3PALPallidum0
0
Pip5k3RHPRetrohippocampal region0
0
Pip5k3sAMYStriatum-like amygdalar nuclei0
0
Pip5k3STRStriatum0
0
Pip5k3STRdStriatum dorsal region0
0
Pip5k3STRvStriatum ventral region0
0
Pip5k3THThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
FYV1_HUMAN_2 18 2 19 ATDDKTSPTLDSANDLPR 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


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