AutismKB 2.0

Annotation Detail for PSMD6


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Basic Information Top
Gene Symbol:PSMD6 ( KIAA0107,Rpn7,S10,SGA-113M,p44S10 )
Gene Full Name: proteasome (prosome, macropain) 26S subunit, non-ATPase, 6
Band: 3p14.1
Quick LinksEntrez ID:9861; OMIM: NA; Uniprot ID:PSMD6_HUMAN; ENSEMBL ID: ENSG00000163636; HGNC ID: 9564
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
blastocyst15 / 62319240
fetus42 / 56401274
neonate1 / 3109732
infant1 / 2362042
juvenile2 / 5555635
adult164 / 193912184
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) tumor25 / 94178265
cervical tumor1 / 3436629
chondrosarcoma5 / 8282360
colorectal tumor4 / 11424635
esophageal tumor1 / 1729057
gastrointestinal tumor11 / 11936992
germ cell tumor17 / 26384564
glioma3 / 10688328
head and neck tumor13 / 13630295
kidney tumor3 / 6895943
leukemia4 / 9584241
liver tumor5 / 9635951
lung tumor6 / 10312758
lymphoma3 / 7175541
non-neoplasia9 / 9725092
normal258 / 336030776
ovarian tumor9 / 76682117
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS15 / 125680119
prostate cancer5 / 10268048
retinoblastoma7 / 46356151
skin tumor22 / 124949176
soft tissue/muscle tissue tumor21 / 125191167
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites5 / 40015124
bladder1 / 2975733
blood2 / 12347816
bone3 / 7165541
bone marrow5 / 48801102
brain63 / 110098957
cervix1 / 4817120
connective tissue21 / 149255140
ear2 / 16212123
embryonic tissue32 / 215722148
esophagus1 / 2020949
eye23 / 211054108
heart0 / 896260 
intestine9 / 23447238
kidney15 / 21177770
larynx8 / 24145331
liver8 / 20774338
lung19 / 33697456
lymph3 / 4427067
lymph node5 / 9161054
mammary gland28 / 153271182
mouth3 / 6705244
muscle15 / 107715139
nerve1 / 1576863
ovary10 / 10205197
pancreas16 / 21481274
parathyroid0 / 205390 
pharynx7 / 41328169
pituitary gland0 / 165850 
placenta16 / 28082556
prostate17 / 18934589
salivary gland1 / 2015549
skin26 / 210574123
spleen2 / 5395237
stomach10 / 96619103
testis27 / 33044281
thymus2 / 8113124
thyroid7 / 47473147
tonsil5 / 16999294
trachea1 / 5241319
umbilical cord1 / 1368073
uterus22 / 23287894
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202753_at
Cell line Expression level Expression bar
721_B_lymphoblasts909.45
Adipocyte110.95
AdrenalCortex56.95
Adrenalgland58.55
Amygdala181.9
Appendix23.3
AtrioventricularNode16.4
BDCA4+_DentriticCells397.7
Bonemarrow47.8
BronchialEpithelialCells380.05
CD105+_Endothelial1042
CD14+_Monocytes459.85
CD19+_BCells(neg._sel.)478.6
CD33+_Myeloid339.5
CD34+616.95
CD4+_Tcells387.85
CD56+_NKCells476.8
CD71+_EarlyErythroid1039.75
CD8+_Tcells324.15
CardiacMyocytes153.25
Caudatenucleus48.1
Cerebellum27.6
CerebellumPeduncles24.05
CiliaryGanglion11.35
CingulateCortex52.65
Colorectaladenocarcinoma255.5
DorsalRootGanglion35
FetalThyroid38.45
Fetalbrain60.05
Fetalliver130.9
Fetallung71.65
GlobusPallidus23.05
Heart15.8
Hypothalamus129.45
Kidney28.65
Leukemia_chronicMyelogenousK-562134.5
Leukemia_promyelocytic-HL-60173.7
Leukemialymphoblastic(MOLT-4)150.85
Liver21.1
Lung77.7
Lymphnode62.7
Lymphoma_burkitts(Daudi)155.85
Lymphoma_burkitts(Raji)113.15
MedullaOblongata48.25
OccipitalLobe82.15
OlfactoryBulb43.25
Ovary33.1
Pancreas136.7
PancreaticIslet246.55
ParietalLobe49.8
Pituitary89.75
Placenta129.95
Pons33.8
PrefrontalCortex130.8
Prostate167.85
Salivarygland82.3
SkeletalMuscle39.05
Skin15.9
SmoothMuscle250.25
Spinalcord70.1
SubthalamicNucleus50.85
SuperiorCervicalGanglion19.95
TemporalLobe48.55
Testis511.9
TestisGermCell667.8
TestisIntersitial664.45
TestisLeydigCell467
TestisSeminiferousTubule337.65
Thalamus95.15
Thymus72.05
Thyroid155.15
Tongue58
Tonsil111.55
Trachea43.2
TrigeminalGanglion27.25
Uterus87.35
UterusCorpus38
WholeBlood236.3
Wholebrain135
colon200.1
pineal_day217.92
pineal_night261.76
retina152.025
small_intestine192.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5640_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
Amygdala6.97 ± 0.42
Basal Forebrain6.97 ± 0.25
Basal Part of Pons7.29 ± 0.24
Cerebellar Cortex7.32 ± 0.25
Cerebellar Nuclei7.09 ± 0.5
Claustrum6.78 ± 0.45
Epithalamus7.24 ± 0.19
Frontal Lobe7.32 ± 0.3
Globus Pallidus6.85 ± 0.23
Hypothalamus7.35 ± 0.32
Insula7.3 ± 0.33
Limbic Lobe7.1 ± 0.46
Mesencephalon7.18 ± 0.41
Myelencephalon7.09 ± 0.43
Occipital Lobe6.92 ± 0.35
Parietal Lobe7.11 ± 0.39
Pontine Tegmentum7.17 ± 0.4
Striatum6.83 ± 0.34
Subthalamus7.3 ± 0.25
Temporal Lobe7.25 ± 0.35
Thalamus7.11 ± 0.33
White Matter7.05 ± 0.29
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Psmd6CBCerebellum25.92
36.71
Psmd6CTXCerebral cortex86.78
69.63
Psmd6HIPHippocampal region53.66
100
Psmd6HPFHippocampal formation65.66
91.47
Psmd6HYHypothalamus25.25
20.73
Psmd6LSXLateral septal complex22.44
16.58
Psmd6MBMidbrain36.3
34.73
Psmd6MYMedulla46.73
56.51
Psmd6OLFOlfactory bulb62.08
53.82
Psmd6PPons40.22
47.6
Psmd6PALPallidum40.98
38.74
Psmd6RHPRetrohippocampal region88.96
78.74
Psmd6sAMYStriatum-like amygdalar nuclei70.17
54.79
Psmd6STRStriatum43.42
31.79
Psmd6STRdStriatum dorsal region38.82
28.23
Psmd6STRvStriatum ventral region48.85
33.63
Psmd6THThalamus49.56
43.45
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001752 13 47 59 DNNMAPYYEALCK Peptide Atlas
PSMD6_HUMAN_147 13 147 159 IGLFYMDNDLITR PRIDE
PSMD6_HUMAN_2 17 2 18 PLENLEEEGLPKNPDLR PRIDE
PSMD6_HUMAN_39 8 39 46 DELMAAVR 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