AutismKB 2.0

Annotation Detail for USP54


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Basic Information Top
Gene Symbol:USP54 ( C10orf29,FLJ37318,bA137L10.3,bA137L10.4 )
Gene Full Name: ubiquitin specific peptidase 54
Band: 10q22.2
Quick LinksEntrez ID:159195; OMIM: NA; Uniprot ID:UBP54_HUMAN; ENSEMBL ID: ENSG00000166348; HGNC ID: 23513
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 body4 / 7076156
blastocyst5 / 6231980
fetus4 / 5640127
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult85 / 193912143
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma0 / 828230 
colorectal tumor13 / 114246113
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor0 / 2638450 
glioma6 / 10688356
head and neck tumor17 / 136302124
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor2 / 10312719
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal75 / 336030722
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer11 / 102680107
retinoblastoma0 / 463560 
skin tumor5 / 12494940
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites3 / 4001574
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain48 / 110098943
cervix1 / 4817120
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue12 / 21572255
esophagus0 / 202090 
eye1 / 2110544
heart1 / 8962611
intestine15 / 23447263
kidney2 / 2117779
larynx6 / 24145248
liver3 / 20774314
lung6 / 33697417
lymph0 / 442700 
lymph node4 / 9161043
mammary gland7 / 15327145
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary2 / 10205119
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate16 / 18934584
salivary gland0 / 201550 
skin5 / 21057423
spleen1 / 5395218
stomach1 / 9661910
testis3 / 3304429
thymus1 / 8113112
thyroid10 / 47473210
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus9 / 23287838
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P355536
  • 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
Amygdala9.11 ± 0.48
Basal Forebrain9.87 ± 0.44
Basal Part of Pons9.57 ± 0.51
Cerebellar Cortex9.36 ± 0.22
Cerebellar Nuclei10.88 ± 0.54
Claustrum8.99 ± 0.39
Epithalamus9.85 ± 0.64
Frontal Lobe9.61 ± 0.8
Globus Pallidus11.22 ± 0.33
Hypothalamus9.33 ± 0.81
Insula9.18 ± 0.24
Limbic Lobe9.26 ± 0.55
Mesencephalon9.88 ± 0.75
Myelencephalon9.72 ± 0.6
Occipital Lobe9.72 ± 0.48
Parietal Lobe9.63 ± 0.5
Pontine Tegmentum9.82 ± 0.49
Striatum10.18 ± 0.59
Subthalamus10.18 ± 0.35
Temporal Lobe9.36 ± 0.52
Thalamus10.03 ± 0.36
White Matter12.11 ± 0.27
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Usp54CBCerebellum13.51
12.06
Usp54CTXCerebral cortex7.73
5.08
Usp54HIPHippocampal region9.21
7.5
Usp54HPFHippocampal formation9.77
7.32
Usp54HYHypothalamus5.55
3.39
Usp54LSXLateral septal complex5.99
3.68
Usp54MBMidbrain12.54
8.85
Usp54MYMedulla17.52
13.82
Usp54OLFOlfactory bulb15.5
11.42
Usp54PPons15.28
10.84
Usp54PALPallidum8.81
6.07
Usp54RHPRetrohippocampal region10.99
7.24
Usp54sAMYStriatum-like amygdalar nuclei8.74
5.51
Usp54STRStriatum8.81
5.69
Usp54STRdStriatum dorsal region11.2
7.56
Usp54STRvStriatum ventral region2.9
1.54
Usp54THThalamus8.59
5.82
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00433215 13 832 844 LALHGASCSTHSR Peptide Atlas

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