AutismKB 2.0

Annotation Detail for UCHL3


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Basic Information Top
Gene Symbol:UCHL3 ( UCH-L3 )
Gene Full Name: ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)
Band: 13q22.2
Quick LinksEntrez ID:7347; OMIM: 603090; Uniprot ID:UCHL3_HUMAN; ENSEMBL ID: ENSG00000118939; HGNC ID: 12515
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 body1 / 7076114
blastocyst0 / 623190 
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult47 / 193912124
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma6 / 8282372
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor8 / 26384530
glioma2 / 10688318
head and neck tumor2 / 13630214
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor4 / 9635941
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal70 / 336030720
ovarian tumor0 / 766820 
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone5 / 7165569
bone marrow2 / 4880140
brain12 / 110098910
cervix0 / 481710 
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye3 / 21105414
heart2 / 8962622
intestine5 / 23447221
kidney9 / 21177742
larynx0 / 241450 
liver5 / 20774324
lung7 / 33697420
lymph0 / 442700 
lymph node2 / 9161021
mammary gland3 / 15327119
mouth2 / 6705229
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta14 / 28082549
prostate6 / 18934531
salivary gland0 / 201550 
skin4 / 21057418
spleen0 / 539520 
stomach2 / 9661920
testis4 / 33044212
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204616_at
Cell line Expression level Expression bar
721_B_lymphoblasts183.65
Adipocyte35.35
AdrenalCortex22.85
Adrenalgland28.3
Amygdala35.3
Appendix8.7
AtrioventricularNode8.65
BDCA4+_DentriticCells155.1
Bonemarrow13.05
BronchialEpithelialCells359.4
CD105+_Endothelial88.1
CD14+_Monocytes84.85
CD19+_BCells(neg._sel.)40.3
CD33+_Myeloid75.55
CD34+119.35
CD4+_Tcells21.6
CD56+_NKCells62.25
CD71+_EarlyErythroid19.35
CD8+_Tcells37.15
CardiacMyocytes45.1
Caudatenucleus17.65
Cerebellum10.35
CerebellumPeduncles13.8
CiliaryGanglion7.35
CingulateCortex13.35
Colorectaladenocarcinoma135.2
DorsalRootGanglion9.75
FetalThyroid29.25
Fetalbrain20.5
Fetalliver35.25
Fetallung19.85
GlobusPallidus10.15
Heart13.1
Hypothalamus15.05
Kidney14.85
Leukemia_chronicMyelogenousK-56241.7
Leukemia_promyelocytic-HL-60138.85
Leukemialymphoblastic(MOLT-4)46.1
Liver13.6
Lung19.05
Lymphnode10.3
Lymphoma_burkitts(Daudi)141.75
Lymphoma_burkitts(Raji)41.85
MedullaOblongata12
OccipitalLobe14.6
OlfactoryBulb14.65
Ovary4.65
Pancreas166.6
PancreaticIslet80.9
ParietalLobe15.55
Pituitary27.35
Placenta39.75
Pons12.9
PrefrontalCortex21.95
Prostate27.95
Salivarygland17.6
SkeletalMuscle14.1
Skin9.8
SmoothMuscle100.05
Spinalcord14.5
SubthalamicNucleus12.9
SuperiorCervicalGanglion12.75
TemporalLobe10.15
Testis47.75
TestisGermCell123.3
TestisIntersitial91.4
TestisLeydigCell67.8
TestisSeminiferousTubule52.65
Thalamus11.4
Thymus12.95
Thyroid73.85
Tongue30.95
Tonsil39.6
Trachea19.8
TrigeminalGanglion10.35
Uterus12.9
UterusCorpus10.7
WholeBlood27.7
Wholebrain20.75
colon113.8
pineal_day37.16
pineal_night38.54
retina12.25
small_intestine42.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15821_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
Amygdala7.22 ± 0.32
Basal Forebrain7.16 ± 0.26
Basal Part of Pons6.71 ± 0.31
Cerebellar Cortex7.18 ± 0.28
Cerebellar Nuclei6.74 ± 0.38
Claustrum6.67 ± 0.56
Epithalamus6.92 ± 0.15
Frontal Lobe7.15 ± 0.38
Globus Pallidus6.9 ± 0.23
Hypothalamus7.13 ± 0.34
Insula7.32 ± 0.39
Limbic Lobe7.18 ± 0.48
Mesencephalon7.01 ± 0.41
Myelencephalon7.02 ± 0.39
Occipital Lobe6.72 ± 0.44
Parietal Lobe6.96 ± 0.31
Pontine Tegmentum7.16 ± 0.39
Striatum7.25 ± 0.4
Subthalamus7.1 ± 0.35
Temporal Lobe7.19 ± 0.32
Thalamus6.91 ± 0.33
White Matter7.44 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Uchl3CBCerebellum13.31
14.86
Uchl3CTXCerebral cortex36.08
26.91
Uchl3HIPHippocampal region32.78
40.74
Uchl3HPFHippocampal formation32.92
34.35
Uchl3HYHypothalamus20.74
16.15
Uchl3LSXLateral septal complex35.06
25.86
Uchl3MBMidbrain22.49
20.26
Uchl3MYMedulla16.94
18.64
Uchl3OLFOlfactory bulb36.86
28.63
Uchl3PPons20.71
22.5
Uchl3PALPallidum19.05
16.8
Uchl3RHPRetrohippocampal region32.94
25.53
Uchl3sAMYStriatum-like amygdalar nuclei18.46
13.1
Uchl3STRStriatum19.35
13.52
Uchl3STRdStriatum dorsal region17.78
12.48
Uchl3STRvStriatum ventral region19.42
12.78
Uchl3THThalamus20.21
16.84
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00004510 25 187 211 KPFPINHGETSDETLLEDAIEVCKK Peptide Atlas
UCHL3_HUMAN_0 0 0 0 VTHETSAHEGQTEAPSIDEK PRIDE
UCHL3_HUMAN_121 13 121 133 FLEESVSMSPEER PRIDE
UCHL3_HUMAN_122 13 122 134 FLEESVSMSPEER PRIDE
UCHL3_HUMAN_136 9 136 144 YLENYDAIR PRIDE
UCHL3_HUMAN_145 20 145 164 VTHETSAHEGQTEAPSIDEK PRIDE
UCHL3_HUMAN_186 25 186 210 KPFPINHGETSDETLLEDAIEVCKK PRIDE
UCHL3_HUMAN_211 10 211 220 FMERDPDELR PRIDE
UCHL3_HUMAN_5 16 5 20 WLPLEANPEVTNQFLK PRIDE
UCHL3_HUMAN_74 14 74 87 SQGQDVTSSVYFMK 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