AutismKB 2.0

Annotation Detail for PSMC1


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Basic Information Top
Gene Symbol:PSMC1 ( MGC24583,MGC8541,P26S4,S4,p56 )
Gene Full Name: proteasome (prosome, macropain) 26S subunit, ATPase, 1
Band: 14q32.11
Quick LinksEntrez ID:5700; OMIM: 602706; Uniprot ID:PRS4_HUMAN; ENSEMBL ID: ENSG00000100764; HGNC ID: 9547
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
blastocyst5 / 6231980
fetus35 / 56401262
neonate2 / 3109764
infant3 / 23620127
juvenile2 / 5555635
adult145 / 193912174
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma2 / 17475114
breast (mammary gland) tumor13 / 94178138
cervical tumor2 / 3436658
chondrosarcoma1 / 8282312
colorectal tumor8 / 11424670
esophageal tumor2 / 17290115
gastrointestinal tumor17 / 119369142
germ cell tumor27 / 263845102
glioma8 / 10688374
head and neck tumor8 / 13630258
kidney tumor8 / 68959116
leukemia6 / 9584262
liver tumor11 / 96359114
lung tumor39 / 103127378
lymphoma10 / 71755139
non-neoplasia1 / 9725010
normal211 / 336030762
ovarian tumor16 / 76682208
pancreatic tumor12 / 104616114
primitive neuroectodermal tumor of the CNS29 / 125680230
prostate cancer14 / 102680136
retinoblastoma8 / 46356172
skin tumor28 / 124949224
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland4 / 33197120
ascites8 / 40015199
bladder5 / 29757168
blood11 / 12347889
bone5 / 7165569
bone marrow4 / 4880181
brain77 / 110098969
cervix2 / 4817141
connective tissue2 / 14925513
ear3 / 16212185
embryonic tissue20 / 21572292
esophagus2 / 2020998
eye15 / 21105471
heart6 / 8962666
intestine15 / 23447263
kidney12 / 21177756
larynx0 / 241450 
liver17 / 20774381
lung46 / 336974136
lymph5 / 44270112
lymph node7 / 9161076
mammary gland19 / 153271123
mouth4 / 6705259
muscle15 / 107715139
nerve0 / 157680 
ovary18 / 102051176
pancreas12 / 21481255
parathyroid1 / 2053948
pharynx7 / 41328169
pituitary gland2 / 16585120
placenta47 / 280825167
prostate21 / 189345110
salivary gland2 / 2015599
skin31 / 210574147
spleen3 / 5395255
stomach7 / 9661972
testis25 / 33044275
thymus5 / 8113161
thyroid4 / 4747384
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord2 / 13680146
uterus12 / 23287851
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204219_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts621.25
Adipocyte375.7
AdrenalCortex137.3
Adrenalgland135.75
Amygdala216.25
Appendix172.25
AtrioventricularNode43.95
BDCA4+_DentriticCells329.5
Bonemarrow122.9
BronchialEpithelialCells550.9
CD105+_Endothelial423.7
CD14+_Monocytes473.45
CD19+_BCells(neg._sel.)250.75
CD33+_Myeloid343.55
CD34+431.1
CD4+_Tcells223
CD56+_NKCells300.45
CD71+_EarlyErythroid347.2
CD8+_Tcells182.8
CardiacMyocytes418.2
Caudatenucleus162.75
Cerebellum77.15
CerebellumPeduncles204.55
CiliaryGanglion29.8
CingulateCortex262.6
Colorectaladenocarcinoma315
DorsalRootGanglion146.2
FetalThyroid345.8
Fetalbrain285.05
Fetalliver148.6
Fetallung228.55
GlobusPallidus165.1
Heart99.05
Hypothalamus356.9
Kidney85.5
Leukemia_chronicMyelogenousK-562300.2
Leukemia_promyelocytic-HL-60243.7
Leukemialymphoblastic(MOLT-4)260.5
Liver97.15
Lung110.8
Lymphnode156
Lymphoma_burkitts(Daudi)322.75
Lymphoma_burkitts(Raji)172.95
MedullaOblongata166.5
OccipitalLobe252.8
OlfactoryBulb206.55
Ovary116.35
Pancreas140
PancreaticIslet332.45
ParietalLobe264.4
Pituitary273.5
Placenta256.75
Pons200.45
PrefrontalCortex267.4
Prostate157.55
Salivarygland112.9
SkeletalMuscle287.3
Skin124.9
SmoothMuscle602.2
Spinalcord268.45
SubthalamicNucleus198.15
SuperiorCervicalGanglion171.4
TemporalLobe191.25
Testis359.5
TestisGermCell487.1
TestisIntersitial477.3
TestisLeydigCell331.95
TestisSeminiferousTubule320.25
Thalamus306.1
Thymus143.75
Thyroid257.35
Tongue189.35
Tonsil210.45
Trachea111.3
TrigeminalGanglion177.25
Uterus129.2
UterusCorpus194.05
WholeBlood228.1
Wholebrain136.55
colon88.35
pineal_day303.54
pineal_night268.1
retina162.425
small_intestine114.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_2620_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
Amygdala7.82 ± 0.31
Basal Forebrain7.76 ± 0.25
Basal Part of Pons8.11 ± 0.15
Cerebellar Cortex8.13 ± 0.1
Cerebellar Nuclei8.07 ± 0.23
Claustrum7.82 ± 0.29
Epithalamus7.73 ± 0.32
Frontal Lobe7.98 ± 0.29
Globus Pallidus7.58 ± 0.21
Hypothalamus8.13 ± 0.2
Insula8.07 ± 0.18
Limbic Lobe7.91 ± 0.26
Mesencephalon7.9 ± 0.31
Myelencephalon7.9 ± 0.29
Occipital Lobe7.83 ± 0.28
Parietal Lobe7.94 ± 0.26
Pontine Tegmentum7.91 ± 0.27
Striatum7.54 ± 0.19
Subthalamus8.07 ± 0.16
Temporal Lobe8 ± 0.25
Thalamus7.88 ± 0.21
White Matter7.88 ± 0.05
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Psmc1CBCerebellum24.41
37.76
Psmc1CTXCerebral cortex70.63
59.53
Psmc1HIPHippocampal region42.37
71.32
Psmc1HPFHippocampal formation52.71
66.81
Psmc1HYHypothalamus25.19
22.76
Psmc1LSXLateral septal complex30.64
25.29
Psmc1MBMidbrain36.32
39.21
Psmc1MYMedulla50.38
70.67
Psmc1OLFOlfactory bulb44.59
39.84
Psmc1PPons40.99
54.91
Psmc1PALPallidum31.41
36.49
Psmc1RHPRetrohippocampal region72.37
65.52
Psmc1sAMYStriatum-like amygdalar nuclei25.87
21.46
Psmc1STRStriatum28.28
22.38
Psmc1STRdStriatum dorsal region30.64
24.5
Psmc1STRvStriatum ventral region18.78
13.57
Psmc1THThalamus53.19
54.19
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000427 12 397 408 AICTEAGLMALR Peptide Atlas
PRS4_HUMAN_155 20 155 174 VHAVIGVLMDDTDPLVTVMK PRIDE
PRS4_HUMAN_272 22 272 293 VAEEHAPSIVFIDEIDAIGTKR PRIDE
PRS4_HUMAN_307 15 307 321 TMLELLNQLDGFDSR PRIDE
PRS4_HUMAN_308 15 308 322 TMLELLNQLDGFDSR PRIDE
PRS4_HUMAN_372 16 372 387 MTLADDVTLDDLIMAK PRIDE
PRS4_HUMAN_68 13 68 80 IKDYLLMEEEFIR 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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