AutismKB 2.0

Annotation Detail for PSMD8


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Basic Information Top
Gene Symbol:PSMD8 ( HIP6,HYPF,MGC1660,Nin1p,Rpn12,S14,p31 )
Gene Full Name: proteasome (prosome, macropain) 26S subunit, non-ATPase, 8
Band: 19q13.2
Quick LinksEntrez ID:5714; OMIM: NA; Uniprot ID:PSMD8_HUMAN; ENSEMBL ID: ENSG00000099341; HGNC ID: 9566
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 body7 / 7076198
blastocyst9 / 62319144
fetus52 / 56401292
neonate4 / 31097128
infant0 / 236200 
juvenile5 / 5555689
adult403 / 1939121207
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor4 / 12794312
bladder carcinoma0 / 174750 
breast (mammary gland) tumor16 / 94178169
cervical tumor2 / 3436658
chondrosarcoma16 / 82823193
colorectal tumor55 / 114246481
esophageal tumor2 / 17290115
gastrointestinal tumor28 / 119369234
germ cell tumor16 / 26384560
glioma9 / 10688384
head and neck tumor26 / 136302190
kidney tumor7 / 68959101
leukemia103 / 958421074
liver tumor16 / 96359166
lung tumor21 / 103127203
lymphoma10 / 71755139
non-neoplasia5 / 9725051
normal373 / 3360307111
ovarian tumor29 / 76682378
pancreatic tumor28 / 104616267
primitive neuroectodermal tumor of the CNS23 / 125680183
prostate cancer15 / 102680146
retinoblastoma7 / 46356151
skin tumor33 / 124949264
soft tissue/muscle tissue tumor15 / 125191119
uterine tumor39 / 90257432
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland4 / 33197120
ascites9 / 40015224
bladder0 / 297570 
blood106 / 123478858
bone14 / 71655195
bone marrow2 / 4880140
brain71 / 110098964
cervix2 / 4817141
connective tissue10 / 14925566
ear0 / 162120 
embryonic tissue20 / 21572292
esophagus2 / 2020998
eye26 / 211054123
heart12 / 89626133
intestine72 / 234472307
kidney22 / 211777103
larynx1 / 2414541
liver31 / 207743149
lung72 / 336974213
lymph4 / 4427090
lymph node22 / 91610240
mammary gland27 / 153271176
mouth16 / 67052238
muscle17 / 107715157
nerve0 / 157680 
ovary29 / 102051284
pancreas42 / 214812195
parathyroid11 / 20539535
pharynx2 / 4132848
pituitary gland3 / 16585180
placenta25 / 28082589
prostate29 / 189345153
salivary gland3 / 20155148
skin55 / 210574261
spleen3 / 5395255
stomach11 / 96619113
testis39 / 330442118
thymus5 / 8113161
thyroid10 / 47473210
tonsil3 / 16999176
trachea1 / 5241319
umbilical cord4 / 13680292
uterus59 / 232878253
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200820_at
Cell line Expression level Expression bar
721_B_lymphoblasts1284.45
Adipocyte468.1
AdrenalCortex115.65
Adrenalgland124.9
Amygdala296.85
Appendix36.65
AtrioventricularNode21.15
BDCA4+_DentriticCells560.7
Bonemarrow126.5
BronchialEpithelialCells864.55
CD105+_Endothelial609.6
CD14+_Monocytes698.6
CD19+_BCells(neg._sel.)387.45
CD33+_Myeloid491.35
CD34+643.3
CD4+_Tcells296.75
CD56+_NKCells549.4
CD71+_EarlyErythroid744.9
CD8+_Tcells274.9
CardiacMyocytes505.95
Caudatenucleus112.3
Cerebellum168.5
CerebellumPeduncles228.8
CiliaryGanglion31.7
CingulateCortex155.95
Colorectaladenocarcinoma794.55
DorsalRootGanglion47.3
FetalThyroid172.65
Fetalbrain167.85
Fetalliver113.55
Fetallung251.1
GlobusPallidus83.5
Heart879.9
Hypothalamus267.85
Kidney109.85
Leukemia_chronicMyelogenousK-562384.25
Leukemia_promyelocytic-HL-60198.95
Leukemialymphoblastic(MOLT-4)307.05
Liver343.9
Lung667.65
Lymphnode87.95
Lymphoma_burkitts(Daudi)397
Lymphoma_burkitts(Raji)369.95
MedullaOblongata109.55
OccipitalLobe209
OlfactoryBulb72.5
Ovary54.65
Pancreas129.95
PancreaticIslet217.05
ParietalLobe194.15
Pituitary152.9
Placenta640.25
Pons111.25
PrefrontalCortex176.35
Prostate732.45
Salivarygland87.7
SkeletalMuscle154.45
Skin49.45
SmoothMuscle744
Spinalcord175.3
SubthalamicNucleus103.75
SuperiorCervicalGanglion15.75
TemporalLobe168.45
Testis376.7
TestisGermCell501.25
TestisIntersitial499.45
TestisLeydigCell345.1
TestisSeminiferousTubule304.9
Thalamus275.3
Thymus318.7
Thyroid362.65
Tongue96.85
Tonsil145.35
Trachea98.75
TrigeminalGanglion33.4
Uterus218.65
UterusCorpus110.15
WholeBlood176.5
Wholebrain526.65
colon243
pineal_day426.42
pineal_night356.72
retina343.775
small_intestine310.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13020_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
Amygdala9.4 ± 0.27
Basal Forebrain9.18 ± 0.23
Basal Part of Pons9.55 ± 0.21
Cerebellar Cortex9.43 ± 0.27
Cerebellar Nuclei9.33 ± 0.3
Claustrum9.14 ± 0.21
Epithalamus9.15 ± 0.29
Frontal Lobe9.55 ± 0.28
Globus Pallidus8.81 ± 0.23
Hypothalamus9.64 ± 0.31
Insula9.55 ± 0.2
Limbic Lobe9.38 ± 0.44
Mesencephalon9.28 ± 0.29
Myelencephalon9.36 ± 0.37
Occipital Lobe9 ± 0.35
Parietal Lobe9.36 ± 0.29
Pontine Tegmentum9.4 ± 0.39
Striatum8.99 ± 0.28
Subthalamus9.29 ± 0.3
Temporal Lobe9.55 ± 0.33
Thalamus9.38 ± 0.27
White Matter9.11 ± 0.22
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Psmd8CBCerebellum30.84
100
Psmd8CTXCerebral cortex100
100
Psmd8HIPHippocampal region100
100
Psmd8HPFHippocampal formation100
100
Psmd8HYHypothalamus47.57
51.86
Psmd8LSXLateral septal complex90.52
94.64
Psmd8MBMidbrain33.03
38.27
Psmd8MYMedulla63.63
100
Psmd8OLFOlfactory bulb100
100
Psmd8PPons33.39
49.28
Psmd8PALPallidum56.79
70.9
Psmd8RHPRetrohippocampal region65.31
67.49
Psmd8sAMYStriatum-like amygdalar nuclei100
100
Psmd8STRStriatum100
98.4
Psmd8STRdStriatum dorsal region98.76
91.63
Psmd8STRvStriatum ventral region100
100
Psmd8THThalamus90.79
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00069134 31 307 337 GWVLGPNNYYSFASQQQKPEDTTIPSTELAK Peptide Atlas
PSMD8_HUMAN_0 0 0 0 LVLLELNFLPTTGTK PRIDE
PSMD8_HUMAN_111 14 111 124 VAEFHTELERLPAK PRIDE
PSMD8_HUMAN_27 15 27 41 LVLLELNFLPTTGTK PRIDE
PSMD8_HUMAN_39 14 39 52 TGTKLTKQQLILAR 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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