AutismKB 2.0

Annotation Detail for PSMG1


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Basic Information Top
Gene Symbol:PSMG1 ( C21LRP,DSCR2,LRPC21,PAC1 )
Gene Full Name: proteasome (prosome, macropain) assembly chaperone 1
Band: 21q22.2
Quick LinksEntrez ID:8624; OMIM: 605296; Uniprot ID:PSMG1_HUMAN; ENSEMBL ID: ENSG00000183527; HGNC ID: 3043
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
blastocyst7 / 62319112
fetus19 / 56401233
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult57 / 193912129
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor3 / 9417831
cervical tumor3 / 3436687
chondrosarcoma7 / 8282384
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor14 / 26384553
glioma2 / 10688318
head and neck tumor1 / 1363027
kidney tumor3 / 6895943
leukemia4 / 9584241
liver tumor5 / 9635951
lung tumor3 / 10312729
lymphoma2 / 7175527
non-neoplasia0 / 972500 
normal104 / 336030730
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer3 / 10268029
retinoblastoma9 / 46356194
skin tumor3 / 12494924
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
ascites0 / 400150 
bladder0 / 297570 
blood2 / 12347816
bone3 / 7165541
bone marrow0 / 488010 
brain19 / 110098917
cervix5 / 48171103
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue12 / 21572255
esophagus0 / 202090 
eye15 / 21105471
heart5 / 8962655
intestine9 / 23447238
kidney13 / 21177761
larynx0 / 241450 
liver10 / 20774348
lung11 / 33697432
lymph1 / 4427022
lymph node6 / 9161065
mammary gland5 / 15327132
mouth0 / 670520 
muscle8 / 10771574
nerve1 / 1576863
ovary2 / 10205119
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta12 / 28082542
prostate4 / 18934521
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach4 / 9661941
testis19 / 33044257
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus12 / 23287851
vascular1 / 5178019
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203405_at
Cell line Expression level Expression bar
721_B_lymphoblasts413.45
Adipocyte38.25
AdrenalCortex28.3
Adrenalgland26.95
Amygdala47.2
Appendix35.8
AtrioventricularNode19.8
BDCA4+_DentriticCells43.75
Bonemarrow37.5
BronchialEpithelialCells86.05
CD105+_Endothelial571.2
CD14+_Monocytes36.15
CD19+_BCells(neg._sel.)30.8
CD33+_Myeloid39.5
CD34+286.15
CD4+_Tcells25.05
CD56+_NKCells36.35
CD71+_EarlyErythroid124.5
CD8+_Tcells23.4
CardiacMyocytes47.95
Caudatenucleus19.75
Cerebellum19.8
CerebellumPeduncles24.5
CiliaryGanglion12.3
CingulateCortex26.95
Colorectaladenocarcinoma116.2
DorsalRootGanglion23.1
FetalThyroid29.45
Fetalbrain21
Fetalliver48.7
Fetallung16.9
GlobusPallidus22.55
Heart21.45
Hypothalamus35.75
Kidney25.55
Leukemia_chronicMyelogenousK-562175.75
Leukemia_promyelocytic-HL-60266
Leukemialymphoblastic(MOLT-4)71.9
Liver43.7
Lung28.25
Lymphnode19.15
Lymphoma_burkitts(Daudi)252.45
Lymphoma_burkitts(Raji)117.55
MedullaOblongata24
OccipitalLobe23.7
OlfactoryBulb15.5
Ovary21.2
Pancreas22.3
PancreaticIslet48.1
ParietalLobe31
Pituitary50.1
Placenta27.25
Pons28.8
PrefrontalCortex30.9
Prostate25.75
Salivarygland26.8
SkeletalMuscle35.65
Skin19.45
SmoothMuscle73.7
Spinalcord25.35
SubthalamicNucleus26.4
SuperiorCervicalGanglion39.65
TemporalLobe28.3
Testis558.85
TestisGermCell316.35
TestisIntersitial420.9
TestisLeydigCell313.05
TestisSeminiferousTubule355.75
Thalamus31.5
Thymus25.15
Thyroid46.45
Tongue25.8
Tonsil29.55
Trachea22.45
TrigeminalGanglion22.95
Uterus22.75
UterusCorpus26.35
WholeBlood22.8
Wholebrain31.4
colon109.55
pineal_day82.1
pineal_night90.14
retina52.45
small_intestine85.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9332_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
Amygdala6.3 ± 0.65
Basal Forebrain6.14 ± 0.29
Basal Part of Pons6.71 ± 0.37
Cerebellar Cortex6.78 ± 0.3
Cerebellar Nuclei6.23 ± 0.64
Claustrum6.04 ± 0.59
Epithalamus6.69 ± 0.29
Frontal Lobe6.82 ± 0.41
Globus Pallidus5.92 ± 0.34
Hypothalamus7.04 ± 0.5
Insula6.88 ± 0.32
Limbic Lobe6.49 ± 0.58
Mesencephalon6.46 ± 0.58
Myelencephalon6.43 ± 0.6
Occipital Lobe6 ± 0.52
Parietal Lobe6.55 ± 0.47
Pontine Tegmentum6.56 ± 0.54
Striatum5.58 ± 0.48
Subthalamus6.33 ± 0.86
Temporal Lobe6.76 ± 0.41
Thalamus6.53 ± 0.42
White Matter5.36 ± 0.25
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00041255 11 160 170 KNMQITILTCR Peptide Atlas
PSMG1_HUMAN_2 14 2 15 AATFFGEVVKAPCR 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