AutismKB 2.0

Annotation Detail for UBE2L3


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Basic Information Top
Gene Symbol:UBE2L3 ( E2-F1,L-UBC,UBCH7,UbcM4 )
Gene Full Name: ubiquitin-conjugating enzyme E2L 3
Band: 22q11.21
Quick LinksEntrez ID:7332; OMIM: 603721; Uniprot ID:UB2L3_HUMAN; ENSEMBL ID: ENSG00000185651; HGNC ID: 12488
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 body8 / 70761113
blastocyst3 / 6231948
fetus161 / 564012285
neonate13 / 31097418
infant5 / 23620211
juvenile28 / 55556503
adult412 / 1939121212
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor7 / 12794547
bladder carcinoma2 / 17475114
breast (mammary gland) tumor8 / 9417884
cervical tumor7 / 34366203
chondrosarcoma20 / 82823241
colorectal tumor11 / 11424696
esophageal tumor0 / 172900 
gastrointestinal tumor17 / 119369142
germ cell tumor64 / 263845242
glioma26 / 106883243
head and neck tumor20 / 136302146
kidney tumor21 / 68959304
leukemia40 / 95842417
liver tumor18 / 96359186
lung tumor11 / 103127106
lymphoma17 / 71755236
non-neoplasia13 / 97250133
normal768 / 3360307228
ovarian tumor16 / 76682208
pancreatic tumor20 / 104616191
primitive neuroectodermal tumor of the CNS48 / 125680381
prostate cancer16 / 102680155
retinoblastoma9 / 46356194
skin tumor33 / 124949264
soft tissue/muscle tissue tumor11 / 12519187
uterine tumor14 / 90257155
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland12 / 33197361
ascites8 / 40015199
bladder3 / 29757100
blood39 / 123478315
bone16 / 71655223
bone marrow15 / 48801307
brain312 / 1100989283
cervix14 / 48171290
connective tissue25 / 149255167
ear0 / 162120 
embryonic tissue27 / 215722125
esophagus2 / 2020998
eye33 / 211054156
heart22 / 89626245
intestine35 / 234472149
kidney45 / 211777212
larynx1 / 2414541
liver28 / 207743134
lung56 / 336974166
lymph2 / 4427045
lymph node18 / 91610196
mammary gland15 / 15327197
mouth4 / 6705259
muscle5 / 10771546
nerve2 / 15768126
ovary16 / 102051156
pancreas33 / 214812153
parathyroid15 / 20539730
pharynx11 / 41328266
pituitary gland5 / 16585301
placenta92 / 280825327
prostate41 / 189345216
salivary gland6 / 20155297
skin61 / 210574289
spleen12 / 53952222
stomach12 / 96619124
testis69 / 330442208
thymus25 / 81131308
thyroid15 / 47473315
tonsil1 / 1699958
trachea3 / 5241357
umbilical cord0 / 136800 
uterus62 / 232878266
vascular15 / 51780289
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200682_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts1553.7
Adipocyte230.5
AdrenalCortex63.3
Adrenalgland209.5
Amygdala146
Appendix42.05
AtrioventricularNode8.3
BDCA4+_DentriticCells818.15
Bonemarrow263.95
BronchialEpithelialCells958.25
CD105+_Endothelial564.95
CD14+_Monocytes579.35
CD19+_BCells(neg._sel.)441
CD33+_Myeloid444.9
CD34+538.45
CD4+_Tcells502.85
CD56+_NKCells607.6
CD71+_EarlyErythroid578.2
CD8+_Tcells385.55
CardiacMyocytes439.9
Caudatenucleus55.45
Cerebellum188.6
CerebellumPeduncles105.7
CiliaryGanglion19.85
CingulateCortex71.75
Colorectaladenocarcinoma213.65
DorsalRootGanglion12.7
FetalThyroid141.3
Fetalbrain42.2
Fetalliver213.1
Fetallung131.1
GlobusPallidus60.15
Heart345.55
Hypothalamus170.95
Kidney132.9
Leukemia_chronicMyelogenousK-5621099.15
Leukemia_promyelocytic-HL-60372.05
Leukemialymphoblastic(MOLT-4)324.2
Liver211.3
Lung256.35
Lymphnode94.85
Lymphoma_burkitts(Daudi)461.4
Lymphoma_burkitts(Raji)112.95
MedullaOblongata161.45
OccipitalLobe131.75
OlfactoryBulb75.05
Ovary28.25
Pancreas46.1
PancreaticIslet154.25
ParietalLobe145.2
Pituitary303.1
Placenta389.15
Pons70.1
PrefrontalCortex217.65
Prostate243.45
Salivarygland60.55
SkeletalMuscle15.1
Skin7.55
SmoothMuscle703
Spinalcord148.05
SubthalamicNucleus90.6
SuperiorCervicalGanglion15.3
TemporalLobe148.35
Testis461.05
TestisGermCell281.35
TestisIntersitial432
TestisLeydigCell188.55
TestisSeminiferousTubule201
Thalamus73.9
Thymus373.8
Thyroid124.75
Tongue80.6
Tonsil205.2
Trachea176
TrigeminalGanglion49
Uterus118.35
UterusCorpus76.6
WholeBlood406.85
Wholebrain282.85
colon423.4
pineal_day152.08
pineal_night161.22
retina255.7
small_intestine385.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P91250
  • 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
Amygdala9.54 ± 0.24
Basal Forebrain9.2 ± 0.13
Basal Part of Pons9.51 ± 0.17
Cerebellar Cortex9.1 ± 0.2
Cerebellar Nuclei9.64 ± 0.23
Claustrum9.29 ± 0.34
Epithalamus9.26 ± 0.33
Frontal Lobe9.32 ± 0.27
Globus Pallidus9.51 ± 0.26
Hypothalamus9.44 ± 0.22
Insula9.25 ± 0.2
Limbic Lobe9.32 ± 0.3
Mesencephalon9.31 ± 0.3
Myelencephalon9.28 ± 0.3
Occipital Lobe9.34 ± 0.27
Parietal Lobe9.34 ± 0.27
Pontine Tegmentum9.34 ± 0.22
Striatum9.13 ± 0.31
Subthalamus9.44 ± 0.17
Temporal Lobe9.35 ± 0.23
Thalamus9.29 ± 0.22
White Matter9.8 ± 0.13
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ube2l3CBCerebellum100
100
Ube2l3CTXCerebral cortex100
100
Ube2l3HIPHippocampal region100
100
Ube2l3HPFHippocampal formation100
100
Ube2l3HYHypothalamus100
100
Ube2l3LSXLateral septal complex100
100
Ube2l3MBMidbrain100
100
Ube2l3MYMedulla92.68
100
Ube2l3OLFOlfactory bulb100
100
Ube2l3PPons86.11
100
Ube2l3PALPallidum94.92
100
Ube2l3RHPRetrohippocampal region100
100
Ube2l3sAMYStriatum-like amygdalar nuclei100
100
Ube2l3STRStriatum100
95.7
Ube2l3STRdStriatum dorsal region96.71
86.82
Ube2l3STRvStriatum ventral region100
95.99
Ube2l3THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00003076 18 83 100 GQVCLPVISAENWKPATK Peptide Atlas
UB2L3_HUMAN_0 0 0 0 IEINFPAEYPFKPPK PRIDE
UB2L3_HUMAN_100 22 100 121 TDQVIQSLIALVNDPQPEHPLR PRIDE
UB2L3_HUMAN_100 31 100 130 TDQVIQSLIALVNDPQPEHPLRADLAEEYSK PRIDE
UB2L3_HUMAN_100 33 100 132 TDQVIQSLIALVNDPQPEHPLRADLAEEYSKDR PRIDE
UB2L3_HUMAN_122 11 122 132 ADLAEEYSKDR PRIDE
UB2L3_HUMAN_123 11 123 133 ADLAEEYSKDR PRIDE
UB2L3_HUMAN_23 25 23 47 NIQVDEANLLTWQGLIVPDNPPYDK PRIDE
UB2L3_HUMAN_52 15 52 66 IEINFPAEYPFKPPK PRIDE
UB2L3_HUMAN_52 19 52 70 IEINFPAEYPFKPPKITFK PRIDE
UB2L3_HUMAN_71 11 71 81 TKIYHPNIDEK PRIDE
UB2L3_HUMAN_73 27 73 99 IYHPNIDEKGQVCLPVISAENWKPATK PRIDE
UB2L3_HUMAN_73 9 73 81 IYHPNIDEK PRIDE
UB2L3_HUMAN_82 18 82 99 GQVCLPVISAENWKPATK PRIDE
UB2L3_HUMAN_97 26 97 122 PATKTDQVIQSLIALVNDPQPEHPLR 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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