AutismKB 2.0

Annotation Detail for PLEKHA1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PLEKHA1 ( TAPP1 )
Gene Full Name: pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1
Band: 10q26.13
Quick LinksEntrez ID:59338; OMIM: 607772; Uniprot ID:PKHA1_HUMAN; ENSEMBL ID: ENSG00000107679; HGNC ID: 14335
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
blastocyst5 / 6231980
fetus24 / 56401242
neonate0 / 310970 
infant1 / 2362042
juvenile1 / 5555617
adult96 / 193912149
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) tumor0 / 941780 
cervical tumor2 / 3436658
chondrosarcoma5 / 8282360
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor5 / 26384518
glioma0 / 1068830 
head and neck tumor10 / 13630273
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor2 / 9635920
lung tumor2 / 10312719
lymphoma1 / 7175513
non-neoplasia6 / 9725061
normal180 / 336030753
ovarian tumor2 / 7668226
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland0 / 331970 
ascites0 / 400150 
bladder2 / 2975767
blood2 / 12347816
bone1 / 7165513
bone marrow0 / 488010 
brain70 / 110098963
cervix2 / 4817141
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue17 / 21572278
esophagus0 / 202090 
eye3 / 21105414
heart3 / 8962633
intestine5 / 23447221
kidney7 / 21177733
larynx1 / 2414541
liver6 / 20774328
lung13 / 33697438
lymph1 / 4427022
lymph node1 / 9161010
mammary gland1 / 1532716
mouth7 / 67052104
muscle6 / 10771555
nerve0 / 157680 
ovary2 / 10205119
pancreas8 / 21481237
parathyroid3 / 20539146
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta36 / 280825128
prostate1 / 1893455
salivary gland0 / 201550 
skin3 / 21057414
spleen1 / 5395218
stomach6 / 9661962
testis25 / 33044275
thymus3 / 8113136
thyroid1 / 4747321
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus12 / 23287851
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219024_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.3
Adipocyte4.45
AdrenalCortex4.7
Adrenalgland3.7
Amygdala6.35
Appendix4.45
AtrioventricularNode3.15
BDCA4+_DentriticCells5.25
Bonemarrow4.3
BronchialEpithelialCells47.2
CD105+_Endothelial4.25
CD14+_Monocytes4.7
CD19+_BCells(neg._sel.)21.4
CD33+_Myeloid5.8
CD34+5.6
CD4+_Tcells47.25
CD56+_NKCells219.25
CD71+_EarlyErythroid4
CD8+_Tcells88.95
CardiacMyocytes6
Caudatenucleus4.1
Cerebellum3.55
CerebellumPeduncles5.05
CiliaryGanglion3.2
CingulateCortex45.7
Colorectaladenocarcinoma4.35
DorsalRootGanglion3.5
FetalThyroid4.5
Fetalbrain4.65
Fetalliver3.85
Fetallung3.75
GlobusPallidus10
Heart5.5
Hypothalamus7.25
Kidney3.75
Leukemia_chronicMyelogenousK-5623.9
Leukemia_promyelocytic-HL-603.8
Leukemialymphoblastic(MOLT-4)3.5
Liver5.55
Lung5.55
Lymphnode3.75
Lymphoma_burkitts(Daudi)5.45
Lymphoma_burkitts(Raji)6.15
MedullaOblongata13.7
OccipitalLobe27.2
OlfactoryBulb3.65
Ovary2.95
Pancreas10.7
PancreaticIslet36.95
ParietalLobe14.5
Pituitary5.2
Placenta31.5
Pons4.5
PrefrontalCortex68.2
Prostate5.45
Salivarygland3.5
SkeletalMuscle5.3
Skin3.55
SmoothMuscle4.95
Spinalcord4.6
SubthalamicNucleus15.8
SuperiorCervicalGanglion5.15
TemporalLobe11.95
Testis6.7
TestisGermCell24.9
TestisIntersitial29.3
TestisLeydigCell5.4
TestisSeminiferousTubule10.45
Thalamus4.4
Thymus3.5
Thyroid6.45
Tongue5.45
Tonsil4.45
Trachea3.75
TrigeminalGanglion4.25
Uterus6.75
UterusCorpus4.1
WholeBlood4.8
Wholebrain20.95
colon4.85
pineal_day8.9
pineal_night7.92
retina8.475
small_intestine4.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P115792
  • 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
Amygdala9.77 ± 0.26
Basal Forebrain10.05 ± 0.23
Basal Part of Pons9.96 ± 0.21
Cerebellar Cortex9.7 ± 0.14
Cerebellar Nuclei10.12 ± 0.18
Claustrum10.03 ± 0.42
Epithalamus9.65 ± 0.41
Frontal Lobe10.07 ± 0.32
Globus Pallidus9.69 ± 0.42
Hypothalamus9.95 ± 0.28
Insula10.03 ± 0.24
Limbic Lobe9.82 ± 0.37
Mesencephalon9.97 ± 0.38
Myelencephalon9.98 ± 0.35
Occipital Lobe10.21 ± 0.21
Parietal Lobe10.13 ± 0.37
Pontine Tegmentum10.1 ± 0.28
Striatum9.81 ± 0.47
Subthalamus10.11 ± 0.58
Temporal Lobe10.01 ± 0.28
Thalamus9.95 ± 0.27
White Matter11.05 ± 0.18
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Plekha1CBCerebellum15.9
15.51
Plekha1CTXCerebral cortex49.33
37.58
Plekha1HIPHippocampal region37.37
45.34
Plekha1HPFHippocampal formation36.92
39.07
Plekha1HYHypothalamus25.38
22.92
Plekha1LSXLateral septal complex27.81
21.58
Plekha1MBMidbrain14.85
14.77
Plekha1MYMedulla28.29
32.43
Plekha1OLFOlfactory bulb92.3
96.48
Plekha1PPons26.02
29.52
Plekha1PALPallidum34.5
33.91
Plekha1RHPRetrohippocampal region34.58
27.3
Plekha1sAMYStriatum-like amygdalar nuclei91.78
72
Plekha1STRStriatum39.03
30.17
Plekha1STRdStriatum dorsal region30.78
23.84
Plekha1STRvStriatum ventral region47.49
34.67
Plekha1THThalamus28.2
24.26
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00501837 20 175 194 SQSHLPYFTPKPPQDSAVIK 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved