AutismKB 2.0

Annotation Detail for PLEKHF1


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Basic Information Top
Gene Symbol:PLEKHF1 ( APPD,MGC4090,PHAFIN1,ZFYVE15 )
Gene Full Name: pleckstrin homology domain containing, family F (with FYVE domain) member 1
Band: 19q12
Quick LinksEntrez ID:79156; OMIM: NA; Uniprot ID:PKHF1_HUMAN; ENSEMBL ID: ENSG00000166289; HGNC ID: 20764
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
blastocyst0 / 623190 
fetus5 / 5640128
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult57 / 193912129
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 tumor2 / 3436658
chondrosarcoma3 / 8282336
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma1 / 1068839
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia3 / 9584231
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal65 / 336030719
ovarian tumor9 / 76682117
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
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 
blood6 / 12347848
bone3 / 7165541
bone marrow2 / 4880140
brain16 / 110098914
cervix2 / 4817141
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye0 / 2110540 
heart4 / 8962644
intestine2 / 2344728
kidney1 / 2117774
larynx0 / 241450 
liver3 / 20774314
lung2 / 3369745
lymph0 / 442700 
lymph node1 / 9161010
mammary gland7 / 15327145
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary11 / 102051107
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta18 / 28082564
prostate0 / 1893450 
salivary gland2 / 2015599
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis2 / 3304426
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219566_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.5
Adipocyte8.75
AdrenalCortex6.75
Adrenalgland5.05
Amygdala6.2
Appendix5.95
AtrioventricularNode4.85
BDCA4+_DentriticCells6.2
Bonemarrow6
BronchialEpithelialCells5.8
CD105+_Endothelial5.9
CD14+_Monocytes6.2
CD19+_BCells(neg._sel.)6
CD33+_Myeloid7.5
CD34+7.25
CD4+_Tcells7.95
CD56+_NKCells129.7
CD71+_EarlyErythroid5.45
CD8+_Tcells16.6
CardiacMyocytes7.35
Caudatenucleus5.2
Cerebellum4.8
CerebellumPeduncles6.8
CiliaryGanglion4.5
CingulateCortex6.1
Colorectaladenocarcinoma5.8
DorsalRootGanglion4.8
FetalThyroid5.75
Fetalbrain5.85
Fetalliver5.05
Fetallung4.85
GlobusPallidus4.35
Heart107.9
Hypothalamus6.45
Kidney4.95
Leukemia_chronicMyelogenousK-5625.35
Leukemia_promyelocytic-HL-605.1
Leukemialymphoblastic(MOLT-4)5.6
Liver8.8
Lung82.2
Lymphnode10.05
Lymphoma_burkitts(Daudi)7.5
Lymphoma_burkitts(Raji)8.3
MedullaOblongata5.35
OccipitalLobe5.25
OlfactoryBulb7.7
Ovary3.95
Pancreas4.8
PancreaticIslet6.3
ParietalLobe6.3
Pituitary6.9
Placenta8.6
Pons5.5
PrefrontalCortex7.35
Prostate22.4
Salivarygland7.8
SkeletalMuscle8.65
Skin4.75
SmoothMuscle6.75
Spinalcord6.25
SubthalamicNucleus5.4
SuperiorCervicalGanglion8.8
TemporalLobe5.3
Testis5.1
TestisGermCell4.75
TestisIntersitial4.9
TestisLeydigCell5.85
TestisSeminiferousTubule5.05
Thalamus5.95
Thymus5.85
Thyroid7.9
Tongue9.4
Tonsil5.95
Trachea4.95
TrigeminalGanglion6.95
Uterus5.8
UterusCorpus5.95
WholeBlood8.2
Wholebrain5
colon5.9
pineal_day7.08
pineal_night6.8
retina7.15
small_intestine5.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P194068
  • 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
Amygdala6.04 ± 0.53
Basal Forebrain5.94 ± 0.27
Basal Part of Pons6.11 ± 0.23
Cerebellar Cortex6.11 ± 0.32
Cerebellar Nuclei6.25 ± 0.6
Claustrum6.33 ± 0.58
Epithalamus5.51 ± 0.28
Frontal Lobe5.9 ± 0.41
Globus Pallidus6.47 ± 0.59
Hypothalamus5.8 ± 0.27
Insula5.73 ± 0.48
Limbic Lobe5.99 ± 0.46
Mesencephalon6.02 ± 0.41
Myelencephalon6.03 ± 0.48
Occipital Lobe6.07 ± 0.5
Parietal Lobe6 ± 0.47
Pontine Tegmentum5.95 ± 0.46
Striatum6.22 ± 0.48
Subthalamus5.95 ± 0.19
Temporal Lobe5.89 ± 0.45
Thalamus6.12 ± 0.29
White Matter6.78 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Plekhf1CTXCerebral cortex0.64
1.02
Plekhf1HIPHippocampal region1.45
2.07
Plekhf1HPFHippocampal formation1.35
1.85
Plekhf1HYHypothalamus0.69
1.11
Plekhf1LSXLateral septal complex1.02
1.22
Plekhf1MBMidbrain0.61
1.65
Plekhf1MYMedulla0.33
0.59
Plekhf1OLFOlfactory bulb1.41
2.74
Plekhf1PALPallidum0.3
0.32
Plekhf1RHPRetrohippocampal region0.54
0.76
Plekhf1sAMYStriatum-like amygdalar nuclei3.82
2.98
Plekhf1STRStriatum0.81
0.73
Plekhf1STRdStriatum dorsal region0.39
0.41
Plekhf1STRvStriatum ventral region0.81
0.64
Plekhf1THThalamus0.67
0.77
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PKHF1_HUMAN_75 22 75 96 SQHIIPLEEVTLELLPETLQAK 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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