AutismKB 2.0

Annotation Detail for EP300


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Basic Information Top
Gene Symbol:EP300 ( KAT3B,p300 )
Gene Full Name: E1A binding protein p300
Band: 22q13.2
Quick LinksEntrez ID:2033; OMIM: 602700; Uniprot ID:EP300_HUMAN; ENSEMBL ID: ENSG00000100393; HGNC ID: 3373
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 body10 / 70761141
blastocyst12 / 62319192
fetus31 / 56401254
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult169 / 193912187
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) tumor13 / 94178138
cervical tumor1 / 3436629
chondrosarcoma3 / 8282336
colorectal tumor18 / 114246157
esophageal tumor1 / 1729057
gastrointestinal tumor10 / 11936983
germ cell tumor5 / 26384518
glioma2 / 10688318
head and neck tumor19 / 136302139
kidney tumor1 / 6895914
leukemia22 / 95842229
liver tumor6 / 9635962
lung tumor2 / 10312719
lymphoma1 / 7175513
non-neoplasia4 / 9725041
normal169 / 336030750
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer1 / 1026809
retinoblastoma6 / 46356129
skin tumor5 / 12494940
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder1 / 2975733
blood25 / 123478202
bone1 / 7165513
bone marrow0 / 488010 
brain44 / 110098939
cervix1 / 4817120
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue28 / 215722129
esophagus1 / 2020949
eye9 / 21105442
heart1 / 8962611
intestine23 / 23447298
kidney7 / 21177733
larynx11 / 24145455
liver6 / 20774328
lung16 / 33697447
lymph1 / 4427022
lymph node19 / 91610207
mammary gland17 / 153271110
mouth3 / 6705244
muscle0 / 1077150 
nerve1 / 1576863
ovary1 / 1020519
pancreas2 / 2148129
parathyroid3 / 20539146
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta27 / 28082596
prostate4 / 18934521
salivary gland0 / 201550 
skin8 / 21057437
spleen4 / 5395274
stomach6 / 9661962
testis11 / 33044233
thymus1 / 8113112
thyroid7 / 47473147
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus15 / 23287864
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202221_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts34.1
Adipocyte23.45
AdrenalCortex31.55
Adrenalgland23
Amygdala62.45
Appendix29.7
AtrioventricularNode27.1
BDCA4+_DentriticCells26.9
Bonemarrow35.75
BronchialEpithelialCells21.85
CD105+_Endothelial26
CD14+_Monocytes30.55
CD19+_BCells(neg._sel.)24.3
CD33+_Myeloid60.15
CD34+41.55
CD4+_Tcells28.1
CD56+_NKCells29.9
CD71+_EarlyErythroid32.65
CD8+_Tcells26.5
CardiacMyocytes38.65
Caudatenucleus22.45
Cerebellum32.65
CerebellumPeduncles31.3
CiliaryGanglion19.8
CingulateCortex27.05
Colorectaladenocarcinoma48.15
DorsalRootGanglion22.3
FetalThyroid24.6
Fetalbrain35.25
Fetalliver34.75
Fetallung21.55
GlobusPallidus21.35
Heart38.85
Hypothalamus32.75
Kidney22.75
Leukemia_chronicMyelogenousK-56223.5
Leukemia_promyelocytic-HL-6022.95
Leukemialymphoblastic(MOLT-4)19.3
Liver33.45
Lung28.7
Lymphnode23.5
Lymphoma_burkitts(Daudi)45.1
Lymphoma_burkitts(Raji)39.75
MedullaOblongata23.45
OccipitalLobe22.55
OlfactoryBulb18.8
Ovary18.35
Pancreas19.8
PancreaticIslet27.85
ParietalLobe29.7
Pituitary39.2
Placenta70.25
Pons25.65
PrefrontalCortex36.05
Prostate27.7
Salivarygland21.5
SkeletalMuscle35.95
Skin20.5
SmoothMuscle19.85
Spinalcord30.95
SubthalamicNucleus25.8
SuperiorCervicalGanglion37.2
TemporalLobe22.85
Testis21.25
TestisGermCell20.6
TestisIntersitial21.8
TestisLeydigCell25.05
TestisSeminiferousTubule24.75
Thalamus27.45
Thymus22.25
Thyroid83.25
Tongue28.75
Tonsil26.05
Trachea23.15
TrigeminalGanglion34.45
Uterus36.95
UterusCorpus23.6
WholeBlood59.45
Wholebrain18.65
colon41.95
pineal_day53.16
pineal_night47.28
retina46.475
small_intestine57.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P7887
  • 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
Amygdala6.65 ± 0.23
Basal Forebrain6.8 ± 0.11
Basal Part of Pons6.73 ± 0.33
Cerebellar Cortex7.12 ± 0.21
Cerebellar Nuclei6.62 ± 0.35
Claustrum6.46 ± 0.33
Epithalamus6.76 ± 0.5
Frontal Lobe6.7 ± 0.29
Globus Pallidus6.77 ± 0.31
Hypothalamus6.7 ± 0.28
Insula6.8 ± 0.26
Limbic Lobe6.76 ± 0.28
Mesencephalon6.72 ± 0.33
Myelencephalon6.79 ± 0.36
Occipital Lobe7.08 ± 0.28
Parietal Lobe6.82 ± 0.31
Pontine Tegmentum6.87 ± 0.32
Striatum6.71 ± 0.29
Subthalamus6.38 ± 0.61
Temporal Lobe6.81 ± 0.27
Thalamus6.91 ± 0.34
White Matter7.5 ± 0.09
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ep300CBCerebellum29.45
32.14
Ep300CTXCerebral cortex73.41
55.73
Ep300HIPHippocampal region41.05
49.54
Ep300HPFHippocampal formation49.27
50.14
Ep300HYHypothalamus26.21
21.32
Ep300LSXLateral septal complex22.39
16.58
Ep300MBMidbrain30.61
26.25
Ep300MYMedulla37.28
37.14
Ep300OLFOlfactory bulb61.74
49.6
Ep300PPons25.92
23.89
Ep300PALPallidum22.52
19.36
Ep300RHPRetrohippocampal region70.37
55.6
Ep300sAMYStriatum-like amygdalar nuclei41.05
30.36
Ep300STRStriatum32.16
23.36
Ep300STRdStriatum dorsal region32.41
23.42
Ep300STRvStriatum ventral region30.7
21.81
Ep300THThalamus37.55
30.49
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
EP300_HUMAN_1056 12 1056 1067 QALMPTLEALYR PRIDE
PAp00010939 25 982 1006 MEVDQPEPADTQPEDISESKVEDCK 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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