AutismKB 2.0

Annotation Detail for PAK1


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Basic Information Top
Gene Symbol:PAK1 ( MGC130000,MGC130001,PAKalpha )
Gene Full Name: p21 protein (Cdc42/Rac)-activated kinase 1
Band: 11q13.5-q14.1
Quick LinksEntrez ID:5058; OMIM: 602590; Uniprot ID:PAK1_HUMAN; ENSEMBL ID: ENSG00000149269; HGNC ID: 8590
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 body2 / 7076128
blastocyst9 / 62319144
fetus30 / 56401253
neonate2 / 3109764
infant0 / 236200 
juvenile0 / 555560 
adult219 / 1939121112
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) tumor21 / 94178222
cervical tumor2 / 3436658
chondrosarcoma2 / 8282324
colorectal tumor16 / 114246140
esophageal tumor1 / 1729057
gastrointestinal tumor8 / 11936967
germ cell tumor15 / 26384556
glioma1 / 1068839
head and neck tumor33 / 136302242
kidney tumor6 / 6895987
leukemia7 / 9584273
liver tumor0 / 963590 
lung tumor7 / 10312767
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal164 / 336030748
ovarian tumor7 / 7668291
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor1 / 1249498
soft tissue/muscle tissue tumor66 / 125191527
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites3 / 4001574
bladder0 / 297570 
blood9 / 12347872
bone2 / 7165527
bone marrow3 / 4880161
brain68 / 110098961
cervix2 / 4817141
connective tissue65 / 149255435
ear0 / 162120 
embryonic tissue14 / 21572264
esophagus1 / 2020949
eye4 / 21105418
heart2 / 8962622
intestine24 / 234472102
kidney13 / 21177761
larynx1 / 2414541
liver3 / 20774314
lung11 / 33697432
lymph0 / 442700 
lymph node0 / 916100 
mammary gland21 / 153271137
mouth29 / 67052432
muscle5 / 10771546
nerve0 / 157680 
ovary9 / 10205188
pancreas15 / 21481269
parathyroid2 / 2053997
pharynx1 / 4132824
pituitary gland2 / 16585120
placenta16 / 28082556
prostate5 / 18934526
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach7 / 9661972
testis10 / 33044230
thymus6 / 8113173
thyroid6 / 47473126
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus11 / 23287847
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209615_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.25
Adipocyte5.75
AdrenalCortex6.5
Adrenalgland5.05
Amygdala6.35
Appendix6
AtrioventricularNode4.9
BDCA4+_DentriticCells7.3
Bonemarrow6.8
BronchialEpithelialCells6.05
CD105+_Endothelial6.05
CD14+_Monocytes24.2
CD19+_BCells(neg._sel.)6.3
CD33+_Myeloid19.2
CD34+7.65
CD4+_Tcells6.2
CD56+_NKCells7.15
CD71+_EarlyErythroid5.7
CD8+_Tcells5.5
CardiacMyocytes8.85
Caudatenucleus5.3
Cerebellum5.35
CerebellumPeduncles8
CiliaryGanglion4.3
CingulateCortex9.75
Colorectaladenocarcinoma5.95
DorsalRootGanglion4.6
FetalThyroid6.05
Fetalbrain5.8
Fetalliver5.1
Fetallung4.55
GlobusPallidus5
Heart8.65
Hypothalamus6.4
Kidney5.05
Leukemia_chronicMyelogenousK-5625.35
Leukemia_promyelocytic-HL-605.25
Leukemialymphoblastic(MOLT-4)4.8
Liver8
Lung6.45
Lymphnode4.8
Lymphoma_burkitts(Daudi)7.95
Lymphoma_burkitts(Raji)8.45
MedullaOblongata5.5
OccipitalLobe16.55
OlfactoryBulb4.55
Ovary4.1
Pancreas4.85
PancreaticIslet6.4
ParietalLobe8.3
Pituitary7
Placenta6.25
Pons5.9
PrefrontalCortex7.6
Prostate6.85
Salivarygland4.8
SkeletalMuscle8.9
Skin4.6
SmoothMuscle6.75
Spinalcord6.35
SubthalamicNucleus16.35
SuperiorCervicalGanglion7.5
TemporalLobe5.5
Testis5.05
TestisGermCell4.95
TestisIntersitial5.25
TestisLeydigCell5.95
TestisSeminiferousTubule5.15
Thalamus7.25
Thymus4.7
Thyroid7.1
Tongue6.55
Tonsil5.8
Trachea5
TrigeminalGanglion6.05
Uterus4.9
UterusCorpus5.65
WholeBlood23.85
Wholebrain6.5
colon6
pineal_day7.24
pineal_night7.06
retina7.075
small_intestine5.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P75989
  • 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
Amygdala7.2 ± 0.63
Basal Forebrain6 ± 0.57
Basal Part of Pons7.88 ± 0.31
Cerebellar Cortex7.19 ± 0.13
Cerebellar Nuclei6.31 ± 0.43
Claustrum6.81 ± 0.55
Epithalamus5.68 ± 0.46
Frontal Lobe6.92 ± 0.46
Globus Pallidus4.95 ± 0.7
Hypothalamus6.02 ± 1.05
Insula6.95 ± 0.24
Limbic Lobe6.71 ± 0.48
Mesencephalon6.3 ± 0.67
Myelencephalon6.6 ± 0.86
Occipital Lobe6.25 ± 0.83
Parietal Lobe6.84 ± 0.58
Pontine Tegmentum6.48 ± 0.67
Striatum5.12 ± 0.71
Subthalamus6.05 ± 0.74
Temporal Lobe7.13 ± 0.35
Thalamus7.08 ± 0.59
White Matter4.74 ± 0.89
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pak1CBCerebellum82.56
96.8
Pak1CTXCerebral cortex100
100
Pak1HIPHippocampal region72.35
100
Pak1HPFHippocampal formation93.65
100
Pak1HYHypothalamus70.08
75.34
Pak1LSXLateral septal complex54.76
53.83
Pak1MBMidbrain91.06
100
Pak1MYMedulla79.64
100
Pak1OLFOlfactory bulb94.76
100
Pak1PPons73.56
100
Pak1PALPallidum67.91
80.13
Pak1RHPRetrohippocampal region100
100
Pak1sAMYStriatum-like amygdalar nuclei63.65
62.16
Pak1STRStriatum32.46
31.06
Pak1STRdStriatum dorsal region22.64
22.68
Pak1STRvStriatum ventral region40.36
32.12
Pak1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAK1_HUMAN_266 7 266 272 PKKKYTR PRIDE
PAp00001935 17 372 388 ECLQALEFLHSNQVIHR 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


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