AutismKB 2.0

Annotation Detail for PQBP1


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Basic Information Top
Gene Symbol:PQBP1 ( MRX55,MRXS3,MRXS8,NPW38,RENS1,SHS )
Gene Full Name: polyglutamine binding protein 1
Band: Xp11.23
Quick LinksEntrez ID:10084; OMIM: 300463; Uniprot ID:PQBP1_HUMAN; ENSEMBL ID: ENSG00000102103; HGNC ID: 9330
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 body6 / 7076184
blastocyst8 / 62319128
fetus39 / 56401269
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult158 / 193912181
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma1 / 1747557
breast (mammary gland) tumor18 / 94178191
cervical tumor1 / 3436629
chondrosarcoma9 / 82823108
colorectal tumor12 / 114246105
esophageal tumor0 / 172900 
gastrointestinal tumor13 / 119369108
germ cell tumor21 / 26384579
glioma9 / 10688384
head and neck tumor10 / 13630273
kidney tumor2 / 6895929
leukemia5 / 9584252
liver tumor3 / 9635931
lung tumor16 / 103127155
lymphoma11 / 71755153
non-neoplasia3 / 9725030
normal189 / 336030756
ovarian tumor7 / 7668291
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS10 / 12568079
prostate cancer12 / 102680116
retinoblastoma3 / 4635664
skin tumor32 / 124949256
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland6 / 33197180
ascites8 / 40015199
bladder1 / 2975733
blood9 / 12347872
bone6 / 7165583
bone marrow3 / 4880161
brain47 / 110098942
cervix6 / 48171124
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue17 / 21572278
esophagus0 / 202090 
eye27 / 211054127
heart5 / 8962655
intestine22 / 23447293
kidney11 / 21177751
larynx0 / 241450 
liver3 / 20774314
lung54 / 336974160
lymph9 / 44270203
lymph node12 / 91610130
mammary gland20 / 153271130
mouth3 / 6705244
muscle3 / 10771527
nerve1 / 1576863
ovary12 / 102051117
pancreas15 / 21481269
parathyroid9 / 20539438
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta21 / 28082574
prostate16 / 18934584
salivary gland3 / 20155148
skin38 / 210574180
spleen0 / 539520 
stomach8 / 9661982
testis12 / 33044236
thymus1 / 8113112
thyroid5 / 47473105
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus17 / 23287872
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214527_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts79.45
Adipocyte17.25
AdrenalCortex17.95
Adrenalgland14.9
Amygdala16.2
Appendix17.15
AtrioventricularNode12.25
BDCA4+_DentriticCells130.25
Bonemarrow17.9
BronchialEpithelialCells23.05
CD105+_Endothelial54.35
CD14+_Monocytes47
CD19+_BCells(neg._sel.)83
CD33+_Myeloid40.35
CD34+47.2
CD4+_Tcells66.75
CD56+_NKCells59.25
CD71+_EarlyErythroid79.3
CD8+_Tcells74.9
CardiacMyocytes29.55
Caudatenucleus15.1
Cerebellum24.5
CerebellumPeduncles21.8
CiliaryGanglion10.75
CingulateCortex16.25
Colorectaladenocarcinoma133.1
DorsalRootGanglion13
FetalThyroid15.45
Fetalbrain17.9
Fetalliver15.15
Fetallung18.15
GlobusPallidus12.55
Heart48.35
Hypothalamus24.5
Kidney13.95
Leukemia_chronicMyelogenousK-56223.45
Leukemia_promyelocytic-HL-6016
Leukemialymphoblastic(MOLT-4)19.4
Liver34.15
Lung58.55
Lymphnode16.35
Lymphoma_burkitts(Daudi)40.4
Lymphoma_burkitts(Raji)76.5
MedullaOblongata16.2
OccipitalLobe15.9
OlfactoryBulb14.35
Ovary11.8
Pancreas23.55
PancreaticIslet19.9
ParietalLobe18.15
Pituitary23.2
Placenta23.55
Pons16.6
PrefrontalCortex37.3
Prostate51.55
Salivarygland14
SkeletalMuscle17.4
Skin12.15
SmoothMuscle20.6
Spinalcord18.25
SubthalamicNucleus16.25
SuperiorCervicalGanglion17.05
TemporalLobe16.55
Testis9.3
TestisGermCell12.4
TestisIntersitial11.9
TestisLeydigCell12.75
TestisSeminiferousTubule9.65
Thalamus14.65
Thymus55.5
Thyroid45.75
Tongue11.55
Tonsil17.3
Trachea14.4
TrigeminalGanglion15.2
Uterus41.2
UterusCorpus13.45
WholeBlood40.1
Wholebrain81.35
colon31.15
pineal_day33.46
pineal_night41.48
retina51.35
small_intestine30.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15553_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
Amygdala2.54 ± 0.68
Basal Forebrain2.24 ± 0.55
Basal Part of Pons2.32 ± 0.71
Cerebellar Cortex2.54 ± 0.56
Cerebellar Nuclei2.31 ± 0.53
Claustrum2.58 ± 0.62
Epithalamus2.11 ± 0.67
Frontal Lobe2.55 ± 0.63
Globus Pallidus2.21 ± 0.51
Hypothalamus2.33 ± 0.47
Insula2.82 ± 0.59
Limbic Lobe2.49 ± 0.59
Mesencephalon2.36 ± 0.68
Myelencephalon2.5 ± 0.67
Occipital Lobe2.06 ± 0.74
Parietal Lobe2.32 ± 0.61
Pontine Tegmentum2.34 ± 0.55
Striatum2.13 ± 0.9
Subthalamus2.17 ± 0.67
Temporal Lobe2.52 ± 0.59
Thalamus2.27 ± 0.62
White Matter2.24 ± 0.59
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pqbp1CBCerebellum14.31
18.05
Pqbp1CTXCerebral cortex39.01
32.31
Pqbp1HIPHippocampal region21.59
29.29
Pqbp1HPFHippocampal formation29.52
32.59
Pqbp1HYHypothalamus20.97
18
Pqbp1LSXLateral septal complex14.65
12.28
Pqbp1MBMidbrain21.31
19.4
Pqbp1MYMedulla17.5
19.78
Pqbp1OLFOlfactory bulb26.7
24.37
Pqbp1PPons17.94
19.15
Pqbp1PALPallidum18.82
18.66
Pqbp1RHPRetrohippocampal region49.68
42.08
Pqbp1sAMYStriatum-like amygdalar nuclei36.36
30.26
Pqbp1STRStriatum19.22
15.3
Pqbp1STRdStriatum dorsal region15.24
11.85
Pqbp1STRvStriatum ventral region23.73
18.25
Pqbp1THThalamus23.49
21.92
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00069541 26 19 44 HLEPEPEEEIIAEDYDDDPVDYEATR Peptide Atlas
PQBP1_HUMAN_120 7 120 126 SHEKLDR PRIDE
PQBP1_HUMAN_2 9 2 10 PLPVALQTR PRIDE
PQBP1_HUMAN_94 12 94 105 SSNADAEEKLDR 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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