AutismKB 2.0

Annotation Detail for UCHL1


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Basic Information Top
Gene Symbol:UCHL1 ( PARK5,PGP 9.5,PGP9.5,PGP95,Uch-L1 )
Gene Full Name: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
Band: 4p13
Quick LinksEntrez ID:7345; OMIM: 191342; Uniprot ID:UCHL1_HUMAN; ENSEMBL ID: ENSG00000154277; HGNC ID: 12513
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 body30 / 70761423
blastocyst20 / 62319320
fetus164 / 564012290
neonate3 / 3109796
infant3 / 23620127
juvenile19 / 55556341
adult224 / 1939121115
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma39 / 82823470
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor55 / 263845208
glioma6 / 10688356
head and neck tumor2 / 13630214
kidney tumor23 / 68959333
leukemia1 / 9584210
liver tumor20 / 96359207
lung tumor103 / 103127998
lymphoma19 / 71755264
non-neoplasia6 / 9725061
normal675 / 3360307200
ovarian tumor18 / 76682234
pancreatic tumor79 / 104616755
primitive neuroectodermal tumor of the CNS54 / 125680429
prostate cancer14 / 102680136
retinoblastoma19 / 46356409
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland6 / 33197180
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone11 / 71655153
bone marrow3 / 4880161
brain462 / 1100989419
cervix0 / 481710 
connective tissue17 / 149255113
ear5 / 16212308
embryonic tissue72 / 215722333
esophagus0 / 202090 
eye85 / 211054402
heart7 / 8962678
intestine10 / 23447242
kidney35 / 211777165
larynx0 / 241450 
liver23 / 207743110
lung165 / 336974489
lymph10 / 44270225
lymph node6 / 9161065
mammary gland3 / 15327119
mouth2 / 6705229
muscle5 / 10771546
nerve17 / 157681078
ovary28 / 102051274
pancreas145 / 214812675
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland7 / 16585422
placenta1 / 2808253
prostate23 / 189345121
salivary gland0 / 201550 
skin39 / 210574185
spleen0 / 539520 
stomach2 / 9661920
testis29 / 33044287
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord3 / 13680219
uterus20 / 23287885
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201387_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts929.3
Adipocyte88.65
AdrenalCortex8.95
Adrenalgland11.7
Amygdala4280
Appendix20.8
AtrioventricularNode9.85
BDCA4+_DentriticCells8.4
Bonemarrow4.95
BronchialEpithelialCells21.9
CD105+_Endothelial5.2
CD14+_Monocytes4.8
CD19+_BCells(neg._sel.)5.25
CD33+_Myeloid6.75
CD34+11.35
CD4+_Tcells6.1
CD56+_NKCells5.4
CD71+_EarlyErythroid7.85
CD8+_Tcells4.25
CardiacMyocytes896.75
Caudatenucleus1134.5
Cerebellum340.65
CerebellumPeduncles165.85
CiliaryGanglion274.6
CingulateCortex1795.05
Colorectaladenocarcinoma7.05
DorsalRootGanglion1388.75
FetalThyroid7.6
Fetalbrain3704.8
Fetalliver6.3
Fetallung7.5
GlobusPallidus1430.7
Heart11
Hypothalamus5188.95
Kidney15.15
Leukemia_chronicMyelogenousK-5627.95
Leukemia_promyelocytic-HL-60914.55
Leukemialymphoblastic(MOLT-4)7.15
Liver11.35
Lung12.4
Lymphnode7.65
Lymphoma_burkitts(Daudi)11.15
Lymphoma_burkitts(Raji)685.7
MedullaOblongata1744.25
OccipitalLobe2917.5
OlfactoryBulb57.6
Ovary5.75
Pancreas8.7
PancreaticIslet259.55
ParietalLobe2134.1
Pituitary988.1
Placenta9.3
Pons1130.3
PrefrontalCortex2855.4
Prostate13.7
Salivarygland6.6
SkeletalMuscle9.75
Skin6.55
SmoothMuscle1536.75
Spinalcord1279.7
SubthalamicNucleus2077.05
SuperiorCervicalGanglion77.1
TemporalLobe2337.45
Testis8.25
TestisGermCell9.35
TestisIntersitial7.35
TestisLeydigCell8.7
TestisSeminiferousTubule13.35
Thalamus4087.3
Thymus7.1
Thyroid11.25
Tongue8.45
Tonsil8.55
Trachea7.45
TrigeminalGanglion236.85
Uterus7.3
UterusCorpus11.3
WholeBlood9.5
Wholebrain2486.6
colon8.9
pineal_day226.06
pineal_night133.66
retina139.65
small_intestine18.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P7193
  • 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
Amygdala6.05 ± 0.41
Basal Forebrain5.97 ± 0.39
Basal Part of Pons6.65 ± 0.27
Cerebellar Cortex5.65 ± 0.41
Cerebellar Nuclei6.52 ± 0.45
Claustrum6.73 ± 0.52
Epithalamus5.41 ± 0.62
Frontal Lobe6.29 ± 0.49
Globus Pallidus5.55 ± 0.92
Hypothalamus6.89 ± 0.31
Insula6.42 ± 0.43
Limbic Lobe6.48 ± 0.46
Mesencephalon6.21 ± 0.6
Myelencephalon6.1 ± 0.68
Occipital Lobe5.71 ± 0.59
Parietal Lobe6.21 ± 0.56
Pontine Tegmentum6.17 ± 0.64
Striatum5.94 ± 0.74
Subthalamus6.71 ± 0.17
Temporal Lobe6.39 ± 0.45
Thalamus6.1 ± 0.48
White Matter4.87 ± 1.15
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Uchl1CBCerebellum38.51
78.01
Uchl1CTXCerebral cortex100
100
Uchl1HIPHippocampal region100
100
Uchl1HPFHippocampal formation100
100
Uchl1HYHypothalamus100
100
Uchl1LSXLateral septal complex100
100
Uchl1MBMidbrain100
100
Uchl1MYMedulla100
100
Uchl1OLFOlfactory bulb100
100
Uchl1PPons100
100
Uchl1PALPallidum100
100
Uchl1RHPRetrohippocampal region100
100
Uchl1sAMYStriatum-like amygdalar nuclei100
100
Uchl1STRStriatum100
100
Uchl1STRdStriatum dorsal region100
100
Uchl1STRvStriatum ventral region100
100
Uchl1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000441 16 138 153 AIQAAHDAVAQEGQCR Peptide Atlas
UCHL1_HUMAN_1 15 1 15 MQLKPMEINPEMLNK PRIDE
UCHL1_HUMAN_1 19 1 19 MQLKPMEINPEMLNKVLSR PRIDE
UCHL1_HUMAN_105 10 105 114 LGFEDGSVLK PRIDE
UCHL1_HUMAN_115 14 115 128 QFLSETEKMSPEDR PRIDE
UCHL1_HUMAN_116 14 116 129 QFLSETEKMSPEDR PRIDE
UCHL1_HUMAN_131 22 131 152 CFEKNEAIQAAHDAVAQEGQCR PRIDE
UCHL1_HUMAN_135 18 135 152 NEAIQAAHDAVAQEGQCR PRIDE
UCHL1_HUMAN_178 17 178 194 MPFPVNHGASSEDTLLK PRIDE
UCHL1_HUMAN_178 21 178 198 MPFPVNHGASSEDTLLKDAAK PRIDE
UCHL1_HUMAN_19 8 19 26 LGVAGQWR PRIDE
UCHL1_HUMAN_202 11 202 212 EFTEREQGEVR PRIDE
UCHL1_HUMAN_213 8 213 220 FSAVALCK PRIDE
UCHL1_HUMAN_5 15 5 19 PMEINPEMLNKVLSR PRIDE
UCHL1_HUMAN_52 12 52 63 LFPLTAQHENFR PRIDE
UCHL1_HUMAN_64 14 64 77 KQIEELKGQEVSPK PRIDE
UCHL1_HUMAN_65 13 65 77 QIEELKGQEVSPK PRIDE
UCHL1_HUMAN_83 22 83 104 QTIGNSCGTIGLIHAVANNQDK 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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