AutismKB 2.0

Annotation Detail for USP30


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Basic Information Top
Gene Symbol:USP30 ( FLJ40511,MGC10702 )
Gene Full Name: ubiquitin specific peptidase 30
Band: 12q24.11
Quick LinksEntrez ID:84749; OMIM: 612492; Uniprot ID:UBP30_HUMAN; ENSEMBL ID: ENSG00000135093; HGNC ID: 20065
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
blastocyst1 / 6231916
fetus18 / 56401231
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult31 / 193912115
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor0 / 1193690 
germ cell tumor5 / 26384518
glioma3 / 10688328
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor2 / 9635920
lung tumor3 / 10312729
lymphoma3 / 7175541
non-neoplasia4 / 9725041
normal70 / 336030720
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor5 / 12494940
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone1 / 7165513
bone marrow0 / 488010 
brain28 / 110098925
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus1 / 2020949
eye10 / 21105447
heart1 / 8962611
intestine3 / 23447212
kidney6 / 21177728
larynx0 / 241450 
liver4 / 20774319
lung5 / 33697414
lymph0 / 442700 
lymph node1 / 9161010
mammary gland4 / 15327126
mouth2 / 6705229
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas5 / 21481223
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta3 / 28082510
prostate1 / 1893455
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach0 / 966190 
testis9 / 33044227
thymus1 / 8113112
thyroid1 / 4747321
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus5 / 23287821
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_24_P390055
  • 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
Amygdala6.39 ± 0.45
Basal Forebrain6.65 ± 0.32
Basal Part of Pons6.68 ± 0.3
Cerebellar Cortex7.03 ± 0.22
Cerebellar Nuclei6.91 ± 0.35
Claustrum6.34 ± 0.56
Epithalamus6.8 ± 0.39
Frontal Lobe6.89 ± 0.39
Globus Pallidus6.9 ± 0.22
Hypothalamus7.13 ± 0.48
Insula7 ± 0.23
Limbic Lobe6.76 ± 0.35
Mesencephalon6.87 ± 0.43
Myelencephalon6.85 ± 0.39
Occipital Lobe6.7 ± 0.33
Parietal Lobe6.79 ± 0.37
Pontine Tegmentum6.89 ± 0.34
Striatum6.57 ± 0.32
Subthalamus7.08 ± 0.13
Temporal Lobe6.89 ± 0.36
Thalamus6.81 ± 0.39
White Matter8.1 ± 0.1
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Usp30CBCerebellum56.54
69.23
Usp30CTXCerebral cortex100
100
Usp30HIPHippocampal region80.64
100
Usp30HPFHippocampal formation100
100
Usp30HYHypothalamus92.49
81.55
Usp30LSXLateral septal complex100
87.38
Usp30MBMidbrain80.67
70.61
Usp30MYMedulla55.25
54.13
Usp30OLFOlfactory bulb100
100
Usp30PPons57.83
54.39
Usp30PALPallidum84.59
79.73
Usp30RHPRetrohippocampal region100
100
Usp30sAMYStriatum-like amygdalar nuclei100
86.73
Usp30STRStriatum100
100
Usp30STRdStriatum dorsal region100
100
Usp30STRvStriatum ventral region100
100
Usp30THThalamus94.96
88.85
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00043181 19 183 201 VTHLFDVHSLEQQSEITPK 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