AutismKB 2.0

Annotation Detail for ELP3


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Basic Information Top
Gene Symbol:ELP3 ( FLJ10422,KAT9 )
Gene Full Name: elongation protein 3 homolog (S. cerevisiae)
Band: 8p21.1
Quick LinksEntrez ID:55140; OMIM: 612722; Uniprot ID:ELP3_HUMAN; ENSEMBL ID: ENSG00000134014; HGNC ID: 20696
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 body0 / 707610 
blastocyst2 / 6231932
fetus49 / 56401286
neonate2 / 3109764
infant1 / 2362042
juvenile10 / 55556179
adult135 / 193912169
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor10 / 94178106
cervical tumor2 / 3436658
chondrosarcoma6 / 8282372
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor41 / 263845155
glioma8 / 10688374
head and neck tumor15 / 136302110
kidney tumor3 / 6895943
leukemia3 / 9584231
liver tumor6 / 9635962
lung tumor2 / 10312719
lymphoma7 / 7175597
non-neoplasia9 / 9725092
normal247 / 336030773
ovarian tumor3 / 7668239
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS18 / 125680143
prostate cancer2 / 10268019
retinoblastoma3 / 4635664
skin tumor4 / 12494932
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor22 / 90257243
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland5 / 33197150
ascites1 / 4001524
bladder2 / 2975767
blood7 / 12347856
bone4 / 7165555
bone marrow4 / 4880181
brain136 / 1100989123
cervix2 / 4817141
connective tissue13 / 14925587
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye15 / 21105471
heart5 / 8962655
intestine15 / 23447263
kidney14 / 21177766
larynx5 / 24145207
liver10 / 20774348
lung13 / 33697438
lymph3 / 4427067
lymph node4 / 9161043
mammary gland10 / 15327165
mouth8 / 67052119
muscle2 / 10771518
nerve1 / 1576863
ovary3 / 10205129
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta18 / 28082564
prostate6 / 18934531
salivary gland1 / 2015549
skin7 / 21057433
spleen4 / 5395274
stomach2 / 9661920
testis45 / 330442136
thymus11 / 81131135
thyroid2 / 4747342
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus29 / 232878124
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221094_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts107.2
Adipocyte30.5
AdrenalCortex48.7
Adrenalgland37.8
Amygdala47.85
Appendix45.3
AtrioventricularNode30.25
BDCA4+_DentriticCells95.65
Bonemarrow46.6
BronchialEpithelialCells38.75
CD105+_Endothelial60
CD14+_Monocytes41.35
CD19+_BCells(neg._sel.)51.45
CD33+_Myeloid56.6
CD34+108.2
CD4+_Tcells50.75
CD56+_NKCells127.6
CD71+_EarlyErythroid36.35
CD8+_Tcells81.05
CardiacMyocytes84.1
Caudatenucleus36.65
Cerebellum35.5
CerebellumPeduncles55.55
CiliaryGanglion34.2
CingulateCortex48.15
Colorectaladenocarcinoma46.9
DorsalRootGanglion36.75
FetalThyroid32.15
Fetalbrain36.6
Fetalliver42.45
Fetallung26.55
GlobusPallidus24.9
Heart50.4
Hypothalamus39.25
Kidney36.75
Leukemia_chronicMyelogenousK-56242.6
Leukemia_promyelocytic-HL-6051.15
Leukemialymphoblastic(MOLT-4)34.95
Liver61.6
Lung46.8
Lymphnode39.1
Lymphoma_burkitts(Daudi)65.1
Lymphoma_burkitts(Raji)72
MedullaOblongata38.85
OccipitalLobe28
OlfactoryBulb26.5
Ovary28.7
Pancreas38.95
PancreaticIslet44.55
ParietalLobe49.85
Pituitary53.65
Placenta32.8
Pons47.55
PrefrontalCortex39.15
Prostate35.2
Salivarygland39.05
SkeletalMuscle91.8
Skin35.25
SmoothMuscle41.5
Spinalcord39.75
SubthalamicNucleus28.45
SuperiorCervicalGanglion68.2
TemporalLobe36.1
Testis41.25
TestisGermCell31.4
TestisIntersitial32.05
TestisLeydigCell38
TestisSeminiferousTubule42
Thalamus38.55
Thymus25
Thyroid42.7
Tongue47.05
Tonsil37.2
Trachea31.95
TrigeminalGanglion58.75
Uterus31
UterusCorpus54.6
WholeBlood40.8
Wholebrain30.75
colon44.75
pineal_day35.42
pineal_night38.24
retina44.725
small_intestine42.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P43034
  • 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
Amygdala7.26 ± 0.35
Basal Forebrain7.1 ± 0.26
Basal Part of Pons7.45 ± 0.19
Cerebellar Cortex7.18 ± 0.15
Cerebellar Nuclei7.59 ± 0.22
Claustrum7.4 ± 0.24
Epithalamus7.19 ± 0.22
Frontal Lobe7.47 ± 0.27
Globus Pallidus7.15 ± 0.29
Hypothalamus7.26 ± 0.28
Insula7.44 ± 0.29
Limbic Lobe7.32 ± 0.27
Mesencephalon7.31 ± 0.29
Myelencephalon7.31 ± 0.26
Occipital Lobe7.21 ± 0.28
Parietal Lobe7.43 ± 0.27
Pontine Tegmentum7.37 ± 0.25
Striatum7.26 ± 0.26
Subthalamus7.48 ± 0.13
Temporal Lobe7.33 ± 0.19
Thalamus7.34 ± 0.16
White Matter6.98 ± 0.27
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Elp3CBCerebellum24.45
33.57
Elp3CTXCerebral cortex72.86
60.46
Elp3HIPHippocampal region40.74
53.38
Elp3HPFHippocampal formation44.96
48.5
Elp3HYHypothalamus63.19
51.85
Elp3LSXLateral septal complex64.59
47.54
Elp3MBMidbrain50.34
49.32
Elp3MYMedulla57.61
74.65
Elp3OLFOlfactory bulb59.63
49.22
Elp3PPons52.65
65.32
Elp3PALPallidum47.89
44.33
Elp3RHPRetrohippocampal region53.6
43.48
Elp3sAMYStriatum-like amygdalar nuclei49.4
35.18
Elp3STRStriatum32
22.68
Elp3STRdStriatum dorsal region25.18
18.2
Elp3STRvStriatum ventral region32.53
21.04
Elp3THThalamus56.51
49.92
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00064955 20 297 316 DIEQFTEFFENPAFRPDGLK 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