AutismKB 2.0

Annotation Detail for UBA6


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Basic Information Top
Gene Symbol:UBA6 ( E1-L2,FLJ10808,FLJ23367,MOP-4,UBE1L2 )
Gene Full Name: ubiquitin-like modifier activating enzyme 6
Band: 4q13.2
Quick LinksEntrez ID:55236; OMIM: 611361; Uniprot ID:UBA6_HUMAN; ENSEMBL ID: ENSG00000033178; HGNC ID: 25581
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
blastocyst4 / 6231964
fetus18 / 56401231
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult84 / 193912143
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) tumor3 / 9417831
cervical tumor2 / 3436658
chondrosarcoma1 / 8282312
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor9 / 26384534
glioma0 / 1068830 
head and neck tumor5 / 13630236
kidney tumor4 / 6895958
leukemia2 / 9584220
liver tumor2 / 9635920
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia5 / 9725051
normal116 / 336030734
ovarian tumor7 / 7668291
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder4 / 29757134
blood1 / 1234788
bone1 / 7165513
bone marrow1 / 4880120
brain39 / 110098935
cervix6 / 48171124
connective tissue1 / 1492556
ear1 / 1621261
embryonic tissue15 / 21572269
esophagus0 / 202090 
eye3 / 21105414
heart1 / 8962611
intestine4 / 23447217
kidney6 / 21177728
larynx1 / 2414541
liver4 / 20774319
lung17 / 33697450
lymph0 / 442700 
lymph node10 / 91610109
mammary gland5 / 15327132
mouth3 / 6705244
muscle9 / 10771583
nerve2 / 15768126
ovary7 / 10205168
pancreas13 / 21481260
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta6 / 28082521
prostate3 / 18934515
salivary gland1 / 2015549
skin6 / 21057428
spleen1 / 5395218
stomach2 / 9661920
testis11 / 33044233
thymus5 / 8113161
thyroid0 / 474730 
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus12 / 23287851
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218340_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts54.1
Adipocyte5.5
AdrenalCortex6.45
Adrenalgland5
Amygdala5.8
Appendix6.65
AtrioventricularNode5.45
BDCA4+_DentriticCells11.75
Bonemarrow5.9
BronchialEpithelialCells10.1
CD105+_Endothelial5.7
CD14+_Monocytes6.15
CD19+_BCells(neg._sel.)6.35
CD33+_Myeloid7.4
CD34+8.25
CD4+_Tcells7.45
CD56+_NKCells10.1
CD71+_EarlyErythroid5.4
CD8+_Tcells10.25
CardiacMyocytes8.3
Caudatenucleus5.1
Cerebellum4.6
CerebellumPeduncles6.7
CiliaryGanglion5.45
CingulateCortex5.95
Colorectaladenocarcinoma5.6
DorsalRootGanglion4.85
FetalThyroid5.55
Fetalbrain9.9
Fetalliver6.6
Fetallung4.65
GlobusPallidus4.7
Heart8.05
Hypothalamus6.3
Kidney4.8
Leukemia_chronicMyelogenousK-5629.2
Leukemia_promyelocytic-HL-605.15
Leukemialymphoblastic(MOLT-4)20
Liver7.8
Lung6.15
Lymphnode6.85
Lymphoma_burkitts(Daudi)16.85
Lymphoma_burkitts(Raji)8.35
MedullaOblongata5.1
OccipitalLobe5.2
OlfactoryBulb4.5
Ovary5.1
Pancreas4.75
PancreaticIslet6.05
ParietalLobe6.65
Pituitary14.2
Placenta5.55
Pons5.55
PrefrontalCortex6.75
Prostate6.45
Salivarygland4.9
SkeletalMuscle8.1
Skin5.7
SmoothMuscle6.95
Spinalcord6.1
SubthalamicNucleus5.6
SuperiorCervicalGanglion10.7
TemporalLobe5.35
Testis4.8
TestisGermCell4.65
TestisIntersitial5.1
TestisLeydigCell5.95
TestisSeminiferousTubule5.2
Thalamus5.8
Thymus4.4
Thyroid6.8
Tongue5.8
Tonsil5.8
Trachea4.85
TrigeminalGanglion10.55
Uterus4.6
UterusCorpus5.5
WholeBlood6.35
Wholebrain4.45
colon5.7
pineal_day6.98
pineal_night7.18
retina7.8
small_intestine5.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P218905
  • 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
Amygdala6.87 ± 0.34
Basal Forebrain7.16 ± 0.11
Basal Part of Pons6.89 ± 0.18
Cerebellar Cortex7.34 ± 0.12
Cerebellar Nuclei7.25 ± 0.19
Claustrum6.79 ± 0.33
Epithalamus7.21 ± 0.39
Frontal Lobe7.02 ± 0.26
Globus Pallidus7.19 ± 0.32
Hypothalamus7.46 ± 0.31
Insula7.06 ± 0.24
Limbic Lobe7.07 ± 0.21
Mesencephalon7.14 ± 0.28
Myelencephalon7.09 ± 0.29
Occipital Lobe7.24 ± 0.29
Parietal Lobe7.02 ± 0.31
Pontine Tegmentum7.09 ± 0.32
Striatum7.01 ± 0.24
Subthalamus7.14 ± 0.07
Temporal Lobe7.09 ± 0.27
Thalamus7.05 ± 0.29
White Matter8.17 ± 0.1
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ube1l2CBCerebellum2.22
2.5
Ube1l2CTXCerebral cortex2.75
2
Ube1l2HIPHippocampal region4.65
4.49
Ube1l2HPFHippocampal formation4.03
3.57
Ube1l2HYHypothalamus1.44
1.09
Ube1l2LSXLateral septal complex0.81
0.65
Ube1l2MBMidbrain1.75
1.84
Ube1l2MYMedulla3.18
3.86
Ube1l2OLFOlfactory bulb3.4
2.37
Ube1l2PPons3.79
4.99
Ube1l2PALPallidum1.68
1.81
Ube1l2RHPRetrohippocampal region3.08
2.36
Ube1l2sAMYStriatum-like amygdalar nuclei0.48
0.41
Ube1l2STRStriatum0.86
0.75
Ube1l2STRdStriatum dorsal region0.7
0.72
Ube1l2STRvStriatum ventral region1.45
0.96
Ube1l2THThalamus1.1
0.87
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001155 28 311 338 CLIVDFSNPEAPLEIHTAMLALDQFQEK Peptide Atlas
UBA6_HUMAN_714 13 714 726 ALQLLHCFPLDIR PRIDE
UBA6_HUMAN_739 24 739 762 RPPSPIKFDLNEPLHLSFLQNAAK 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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