AutismKB 2.0

Annotation Detail for UBE2H


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Basic Information Top
Gene Symbol:UBE2H ( E2-20K,UBC8,UBCH,UBCH2 )
Gene Full Name: ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)
Band: 7q32.2
Quick LinksEntrez ID:7328; OMIM: 601082; Uniprot ID:UBE2H_HUMAN; ENSEMBL ID: ENSG00000186591; HGNC ID: 12484
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 body17 / 70761240
blastocyst12 / 62319192
fetus139 / 564012246
neonate1 / 3109732
infant4 / 23620169
juvenile6 / 55556107
adult334 / 1939121172
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma3 / 17475171
breast (mammary gland) tumor10 / 94178106
cervical tumor3 / 3436687
chondrosarcoma13 / 82823156
colorectal tumor14 / 114246122
esophageal tumor0 / 172900 
gastrointestinal tumor8 / 11936967
germ cell tumor35 / 263845132
glioma42 / 106883392
head and neck tumor10 / 13630273
kidney tumor10 / 68959145
leukemia11 / 95842114
liver tumor7 / 9635972
lung tumor11 / 103127106
lymphoma7 / 7175597
non-neoplasia5 / 9725051
normal622 / 3360307185
ovarian tumor28 / 76682365
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS16 / 125680127
prostate cancer7 / 10268068
retinoblastoma2 / 4635643
skin tumor11 / 12494988
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland4 / 33197120
ascites4 / 4001599
bladder6 / 29757201
blood4 / 12347832
bone11 / 71655153
bone marrow6 / 48801122
brain112 / 1100989101
cervix6 / 48171124
connective tissue17 / 149255113
ear1 / 1621261
embryonic tissue38 / 215722176
esophagus0 / 202090 
eye21 / 21105499
heart33 / 89626368
intestine48 / 234472204
kidney36 / 211777169
larynx0 / 241450 
liver14 / 20774367
lung104 / 336974308
lymph5 / 44270112
lymph node40 / 91610436
mammary gland31 / 153271202
mouth2 / 6705229
muscle10 / 10771592
nerve4 / 15768253
ovary33 / 102051323
pancreas40 / 214812186
parathyroid25 / 205391217
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta64 / 280825227
prostate14 / 18934573
salivary gland0 / 201550 
skin72 / 210574341
spleen2 / 5395237
stomach5 / 9661951
testis27 / 33044281
thymus8 / 8113198
thyroid13 / 47473273
tonsil1 / 1699958
trachea1 / 5241319
umbilical cord0 / 136800 
uterus45 / 232878193
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217799_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts217.9
Adipocyte171.95
AdrenalCortex178.2
Adrenalgland162.6
Amygdala238.35
Appendix175.25
AtrioventricularNode128.4
BDCA4+_DentriticCells154.15
Bonemarrow232.05
BronchialEpithelialCells244.8
CD105+_Endothelial147.6
CD14+_Monocytes87.8
CD19+_BCells(neg._sel.)183.95
CD33+_Myeloid208.15
CD34+142.8
CD4+_Tcells176.15
CD56+_NKCells161.75
CD71+_EarlyErythroid962.7
CD8+_Tcells146.6
CardiacMyocytes224.5
Caudatenucleus192
Cerebellum239.15
CerebellumPeduncles216.75
CiliaryGanglion120.1
CingulateCortex177.75
Colorectaladenocarcinoma210.55
DorsalRootGanglion129.75
FetalThyroid164.65
Fetalbrain165.7
Fetalliver250.65
Fetallung154.6
GlobusPallidus124.4
Heart229.65
Hypothalamus183.2
Kidney193.3
Leukemia_chronicMyelogenousK-562146.75
Leukemia_promyelocytic-HL-60149.7
Leukemialymphoblastic(MOLT-4)137.3
Liver291.5
Lung181.25
Lymphnode135.45
Lymphoma_burkitts(Daudi)215.8
Lymphoma_burkitts(Raji)275.15
MedullaOblongata156.05
OccipitalLobe150.95
OlfactoryBulb134.45
Ovary113.25
Pancreas135.55
PancreaticIslet196.9
ParietalLobe182.2
Pituitary207.6
Placenta217.35
Pons163.05
PrefrontalCortex214.65
Prostate205.4
Salivarygland134.7
SkeletalMuscle193.4
Skin143.8
SmoothMuscle293.5
Spinalcord206.15
SubthalamicNucleus154.55
SuperiorCervicalGanglion205.05
TemporalLobe156.3
Testis145.75
TestisGermCell145.9
TestisIntersitial143.45
TestisLeydigCell149.7
TestisSeminiferousTubule143.3
Thalamus185.1
Thymus162.35
Thyroid220.35
Tongue165.5
Tonsil166.85
Trachea183.4
TrigeminalGanglion168.9
Uterus153.1
UterusCorpus167.35
WholeBlood166.6
Wholebrain186.5
colon173.1
pineal_day214.92
pineal_night208.8
retina209.525
small_intestine170.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P145584
  • 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 ± 0.24
Basal Forebrain7.45 ± 0.1
Basal Part of Pons7.43 ± 0.27
Cerebellar Cortex7.37 ± 0.24
Cerebellar Nuclei7.7 ± 0.19
Claustrum7.14 ± 0.29
Epithalamus7.45 ± 0.2
Frontal Lobe7.37 ± 0.28
Globus Pallidus7.85 ± 0.16
Hypothalamus7.57 ± 0.21
Insula7.36 ± 0.3
Limbic Lobe7.29 ± 0.24
Mesencephalon7.53 ± 0.21
Myelencephalon7.37 ± 0.28
Occipital Lobe7.61 ± 0.23
Parietal Lobe7.45 ± 0.27
Pontine Tegmentum7.44 ± 0.29
Striatum7.33 ± 0.29
Subthalamus7.4 ± 0.2
Temporal Lobe7.37 ± 0.26
Thalamus7.59 ± 0.22
White Matter8.08 ± 0.11
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ube2hCBCerebellum20.06
27.55
Ube2hCTXCerebral cortex73.88
65.72
Ube2hHIPHippocampal region43.46
82.19
Ube2hHPFHippocampal formation44.51
65.06
Ube2hHYHypothalamus33.74
33.49
Ube2hLSXLateral septal complex33.36
28.07
Ube2hMBMidbrain28.57
32.89
Ube2hMYMedulla23.27
33.06
Ube2hOLFOlfactory bulb55.05
57.35
Ube2hPPons27.96
37.15
Ube2hPALPallidum42.92
47.79
Ube2hRHPRetrohippocampal region43.16
42.58
Ube2hsAMYStriatum-like amygdalar nuclei52.36
45.84
Ube2hSTRStriatum35.44
30.42
Ube2hSTRdStriatum dorsal region31.59
27.27
Ube2hSTRvStriatum ventral region41.68
34.2
Ube2hTHThalamus40.52
43.95
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00495159 15 38 52 FYGPQGTPYEGGVWK 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


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