AutismKB 2.0

Annotation Detail for PAK1IP1


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Basic Information Top
Gene Symbol:PAK1IP1 ( FLJ20624,MAK11,PIP1,RP11-421M1.5,WDR84,bA421M1.5,hPIP1 )
Gene Full Name: PAK1 interacting protein 1
Band: 6p24.2
Quick LinksEntrez ID:55003; OMIM: 607811; Uniprot ID:PK1IP_HUMAN; ENSEMBL ID: ENSG00000111845; HGNC ID: 20882
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
blastocyst6 / 6231996
fetus10 / 56401217
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult50 / 193912125
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma8 / 8282396
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor8 / 26384530
glioma1 / 1068839
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia4 / 9584241
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal67 / 336030719
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer9 / 10268087
retinoblastoma3 / 4635664
skin tumor8 / 12494964
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder1 / 2975733
blood4 / 12347832
bone11 / 71655153
bone marrow2 / 4880140
brain8 / 11009897
cervix0 / 481710 
connective tissue4 / 14925526
ear1 / 1621261
embryonic tissue10 / 21572246
esophagus0 / 202090 
eye6 / 21105428
heart0 / 896260 
intestine6 / 23447225
kidney9 / 21177742
larynx2 / 2414582
liver2 / 2077439
lung8 / 33697423
lymph0 / 442700 
lymph node2 / 9161021
mammary gland3 / 15327119
mouth0 / 670520 
muscle2 / 10771518
nerve1 / 1576863
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx4 / 4132896
pituitary gland0 / 165850 
placenta4 / 28082514
prostate22 / 189345116
salivary gland0 / 201550 
skin8 / 21057437
spleen0 / 539520 
stomach4 / 9661941
testis3 / 3304429
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus8 / 23287834
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218886_at
Cell line Expression level Expression bar
721_B_lymphoblasts116.45
Adipocyte17.05
AdrenalCortex29.8
Adrenalgland15.2
Amygdala13.35
Appendix26.25
AtrioventricularNode23.55
BDCA4+_DentriticCells28.5
Bonemarrow19.8
BronchialEpithelialCells33.25
CD105+_Endothelial236.05
CD14+_Monocytes38.05
CD19+_BCells(neg._sel.)21.3
CD33+_Myeloid41.05
CD34+27.35
CD4+_Tcells22.5
CD56+_NKCells25.3
CD71+_EarlyErythroid20.1
CD8+_Tcells16.45
CardiacMyocytes43.35
Caudatenucleus15.6
Cerebellum12.8
CerebellumPeduncles20.8
CiliaryGanglion33.7
CingulateCortex22.55
Colorectaladenocarcinoma20.75
DorsalRootGanglion18.25
FetalThyroid17.1
Fetalbrain14.45
Fetalliver14.55
Fetallung10.8
GlobusPallidus18.85
Heart29.4
Hypothalamus15.9
Kidney15.8
Leukemia_chronicMyelogenousK-56215.4
Leukemia_promyelocytic-HL-6020.7
Leukemialymphoblastic(MOLT-4)13.5
Liver27.9
Lung17
Lymphnode12.1
Lymphoma_burkitts(Daudi)26.6
Lymphoma_burkitts(Raji)26.8
MedullaOblongata12.3
OccipitalLobe14.45
OlfactoryBulb13.1
Ovary15.35
Pancreas14.4
PancreaticIslet23.25
ParietalLobe21.85
Pituitary20.5
Placenta12.2
Pons20.65
PrefrontalCortex23.5
Prostate314.3
Salivarygland14.6
SkeletalMuscle44.05
Skin27.35
SmoothMuscle19.7
Spinalcord17.7
SubthalamicNucleus18.8
SuperiorCervicalGanglion34.9
TemporalLobe16.8
Testis12.7
TestisGermCell12.2
TestisIntersitial14.45
TestisLeydigCell18.35
TestisSeminiferousTubule15.05
Thalamus17.9
Thymus10.4
Thyroid16.85
Tongue24.45
Tonsil18.3
Trachea12.95
TrigeminalGanglion26.8
Uterus13.4
UterusCorpus26.1
WholeBlood16.75
Wholebrain9.55
colon17.15
pineal_day22.54
pineal_night22.22
retina18.4
small_intestine13.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1863_PI416261804
  • 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
Amygdala8.39 ± 0.23
Basal Forebrain8.3 ± 0.17
Basal Part of Pons8.38 ± 0.16
Cerebellar Cortex8.27 ± 0.19
Cerebellar Nuclei8.2 ± 0.22
Claustrum8.49 ± 0.21
Epithalamus8.2 ± 0.13
Frontal Lobe8.32 ± 0.22
Globus Pallidus8.1 ± 0.2
Hypothalamus8.41 ± 0.18
Insula8.41 ± 0.18
Limbic Lobe8.36 ± 0.25
Mesencephalon8.3 ± 0.19
Myelencephalon8.29 ± 0.22
Occipital Lobe8.35 ± 0.21
Parietal Lobe8.31 ± 0.19
Pontine Tegmentum8.32 ± 0.23
Striatum8.35 ± 0.19
Subthalamus8.24 ± 0.15
Temporal Lobe8.34 ± 0.2
Thalamus8.28 ± 0.18
White Matter8.53 ± 0.29
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00068818 13 124 136 GQVTFLSIHPSGK 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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