AutismKB 2.0

Annotation Detail for ELL


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ELL ( C19orf17,DKFZp434I1916,ELL1,MEN )
Gene Full Name: elongation factor RNA polymerase II
Band: 19p13.11
Quick LinksEntrez ID:8178; OMIM: 600284; Uniprot ID:ELL_HUMAN; ENSEMBL ID: ENSG00000105656; HGNC ID: 23114
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 body1 / 7076114
blastocyst2 / 6231932
fetus8 / 56401214
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult66 / 193912134
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor15 / 114246131
esophageal tumor1 / 1729057
gastrointestinal tumor1 / 1193698
germ cell tumor1 / 2638453
glioma2 / 10688318
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia16 / 95842166
liver tumor1 / 9635910
lung tumor5 / 10312748
lymphoma6 / 7175583
non-neoplasia1 / 9725010
normal80 / 336030723
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS10 / 12568079
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor5 / 12494940
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood13 / 123478105
bone1 / 7165513
bone marrow3 / 4880161
brain12 / 110098910
cervix2 / 4817141
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus1 / 2020949
eye6 / 21105428
heart1 / 8962611
intestine21 / 23447289
kidney5 / 21177723
larynx0 / 241450 
liver1 / 2077434
lung10 / 33697429
lymph6 / 44270135
lymph node2 / 9161021
mammary gland1 / 1532716
mouth2 / 6705229
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta19 / 28082567
prostate5 / 18934526
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach0 / 966190 
testis19 / 33044257
thymus2 / 8113124
thyroid1 / 4747321
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204095_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.4
Adipocyte4.95
AdrenalCortex5.25
Adrenalgland4.2
Amygdala5.2
Appendix5.3
AtrioventricularNode4.05
BDCA4+_DentriticCells5.7
Bonemarrow5
BronchialEpithelialCells5
CD105+_Endothelial5.1
CD14+_Monocytes5.25
CD19+_BCells(neg._sel.)5.35
CD33+_Myeloid6.55
CD34+6.4
CD4+_Tcells5.55
CD56+_NKCells5.95
CD71+_EarlyErythroid4.75
CD8+_Tcells4.9
CardiacMyocytes6.9
Caudatenucleus4.5
Cerebellum4.1
CerebellumPeduncles5.9
CiliaryGanglion3.55
CingulateCortex5.1
Colorectaladenocarcinoma5.05
DorsalRootGanglion3.85
FetalThyroid4.9
Fetalbrain5.05
Fetalliver4.3
Fetallung4.15
GlobusPallidus3.65
Heart6.5
Hypothalamus5.45
Kidney4.1
Leukemia_chronicMyelogenousK-5624.55
Leukemia_promyelocytic-HL-604.45
Leukemialymphoblastic(MOLT-4)4.05
Liver6.6
Lung5.5
Lymphnode4.4
Lymphoma_burkitts(Daudi)6.35
Lymphoma_burkitts(Raji)7
MedullaOblongata4.6
OccipitalLobe4.5
OlfactoryBulb3.95
Ovary3.4
Pancreas4.3
PancreaticIslet5.4
ParietalLobe5.3
Pituitary5.85
Placenta5.3
Pons4.75
PrefrontalCortex6.1
Prostate5.65
Salivarygland4
SkeletalMuscle5.9
Skin3.85
SmoothMuscle5.75
Spinalcord5.35
SubthalamicNucleus4.6
SuperiorCervicalGanglion5.7
TemporalLobe4.6
Testis6.55
TestisGermCell6.4
TestisIntersitial5.55
TestisLeydigCell5
TestisSeminiferousTubule4.75
Thalamus5.1
Thymus4
Thyroid6.05
Tongue4.9
Tonsil4.9
Trachea4.2
TrigeminalGanglion5
Uterus4
UterusCorpus4.55
WholeBlood5.5
Wholebrain4
colon4.9
pineal_day6.02
pineal_night5.98
retina5.975
small_intestine4.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P27936
  • 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
Amygdala3.89 ± 0.57
Basal Forebrain3.42 ± 0.39
Basal Part of Pons3.94 ± 0.62
Cerebellar Cortex4.48 ± 0.42
Cerebellar Nuclei3.75 ± 0.49
Claustrum4.08 ± 0.67
Epithalamus3.94 ± 0.49
Frontal Lobe4 ± 0.47
Globus Pallidus3.57 ± 0.53
Hypothalamus3.97 ± 0.76
Insula3.96 ± 0.44
Limbic Lobe4.21 ± 0.64
Mesencephalon4.03 ± 0.57
Myelencephalon4.11 ± 0.57
Occipital Lobe4.45 ± 0.57
Parietal Lobe4.1 ± 0.5
Pontine Tegmentum4.16 ± 0.51
Striatum4.37 ± 0.53
Subthalamus3.96 ± 0.87
Temporal Lobe4.11 ± 0.54
Thalamus4.35 ± 0.48
White Matter4.2 ± 0.32
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ELL_HUMAN_2 7 2 8 AALKEDR PRIDE
PAp00496076 15 410 424 DCEHGEAAAPAPTVR 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved