AutismKB 2.0

Annotation Detail for ELP4


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Basic Information Top
Gene Symbol:ELP4 ( C11orf19,FLJ20498,PAX6NEB,PAXNEB,dJ68P15A.1 )
Gene Full Name: elongation protein 4 homolog (S. cerevisiae)
Band: 11p13
Quick LinksEntrez ID:26610; OMIM: 606985; Uniprot ID:ELP4_HUMAN; ENSEMBL ID: ENSG00000109911; HGNC ID: 1171
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 body3 / 7076142
blastocyst3 / 6231948
fetus22 / 56401239
neonate1 / 3109732
infant0 / 236200 
juvenile1 / 5555617
adult87 / 193912144
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor12 / 94178127
cervical tumor1 / 3436629
chondrosarcoma4 / 8282348
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor6 / 26384522
glioma3 / 10688328
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma2 / 7175527
non-neoplasia3 / 9725030
normal117 / 336030734
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma2 / 4635643
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor21 / 125191167
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 
ascites1 / 4001524
bladder0 / 297570 
blood3 / 12347824
bone3 / 7165541
bone marrow2 / 4880140
brain33 / 110098929
cervix4 / 4817183
connective tissue22 / 149255147
ear2 / 16212123
embryonic tissue13 / 21572260
esophagus0 / 202090 
eye11 / 21105452
heart3 / 8962633
intestine10 / 23447242
kidney18 / 21177784
larynx0 / 241450 
liver2 / 2077439
lung5 / 33697414
lymph1 / 4427022
lymph node5 / 9161054
mammary gland12 / 15327178
mouth1 / 6705214
muscle0 / 1077150 
nerve0 / 157680 
ovary2 / 10205119
pancreas7 / 21481232
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta8 / 28082528
prostate2 / 18934510
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach1 / 9661910
testis6 / 33044218
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord1 / 1368073
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203829_at
Cell line Expression level Expression bar
721_B_lymphoblasts16.65
Adipocyte5.45
AdrenalCortex5.55
Adrenalgland4.65
Amygdala5.9
Appendix7.25
AtrioventricularNode4.4
BDCA4+_DentriticCells8.65
Bonemarrow5.35
BronchialEpithelialCells10.8
CD105+_Endothelial6.45
CD14+_Monocytes6
CD19+_BCells(neg._sel.)5.05
CD33+_Myeloid8.35
CD34+6.05
CD4+_Tcells4.85
CD56+_NKCells6.3
CD71+_EarlyErythroid8.15
CD8+_Tcells6.3
CardiacMyocytes5.95
Caudatenucleus5.6
Cerebellum7.85
CerebellumPeduncles6.5
CiliaryGanglion3.8
CingulateCortex5.45
Colorectaladenocarcinoma11.05
DorsalRootGanglion3.6
FetalThyroid4.7
Fetalbrain5.6
Fetalliver5.75
Fetallung4.5
GlobusPallidus3
Heart6
Hypothalamus6.45
Kidney4.35
Leukemia_chronicMyelogenousK-5625.45
Leukemia_promyelocytic-HL-605.3
Leukemialymphoblastic(MOLT-4)4.55
Liver7.2
Lung6.2
Lymphnode4.75
Lymphoma_burkitts(Daudi)9.25
Lymphoma_burkitts(Raji)7.65
MedullaOblongata5.3
OccipitalLobe5.35
OlfactoryBulb4.55
Ovary3.6
Pancreas4.4
PancreaticIslet7.05
ParietalLobe5.8
Pituitary6.45
Placenta4.3
Pons5.2
PrefrontalCortex6.65
Prostate6.55
Salivarygland4.35
SkeletalMuscle6.25
Skin3.7
SmoothMuscle6.3
Spinalcord5.95
SubthalamicNucleus4.95
SuperiorCervicalGanglion6.95
TemporalLobe4.95
Testis7.7
TestisGermCell4.55
TestisIntersitial4.6
TestisLeydigCell6.3
TestisSeminiferousTubule4.75
Thalamus5.45
Thymus4.4
Thyroid7.05
Tongue5.3
Tonsil5.35
Trachea4.6
TrigeminalGanglion5.45
Uterus4.55
UterusCorpus5.1
WholeBlood6.1
Wholebrain8.9
colon5.6
pineal_day8.6
pineal_night9.62
retina17.5
small_intestine5.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7134_PI416261804
  • 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
Amygdala5.77 ± 0.44
Basal Forebrain6.14 ± 0.15
Basal Part of Pons5.81 ± 0.25
Cerebellar Cortex6.34 ± 0.26
Cerebellar Nuclei5.73 ± 0.53
Claustrum5.26 ± 0.53
Epithalamus6.19 ± 0.48
Frontal Lobe5.85 ± 0.41
Globus Pallidus5.91 ± 0.49
Hypothalamus6.06 ± 0.41
Insula5.83 ± 0.36
Limbic Lobe5.71 ± 0.48
Mesencephalon5.81 ± 0.52
Myelencephalon5.8 ± 0.47
Occipital Lobe5.78 ± 0.39
Parietal Lobe5.67 ± 0.4
Pontine Tegmentum5.97 ± 0.35
Striatum5.88 ± 0.46
Subthalamus5.8 ± 0.12
Temporal Lobe5.83 ± 0.42
Thalamus5.95 ± 0.35
White Matter6.27 ± 0.23
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Elp4CBCerebellum0
0
Elp4CTXCerebral cortex0
0
Elp4HIPHippocampal region0
0
Elp4HPFHippocampal formation0
0
Elp4HYHypothalamus0
0
Elp4LSXLateral septal complex0
0
Elp4MBMidbrain0
0
Elp4MYMedulla0
0
Elp4OLFOlfactory bulb0
0
Elp4PPons0
0
Elp4PALPallidum0
0
Elp4RHPRetrohippocampal region0
0
Elp4sAMYStriatum-like amygdalar nuclei0
0
Elp4STRStriatum0
0
Elp4STRdStriatum dorsal region0
0
Elp4STRvStriatum ventral region0
0
Elp4THThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00076745 20 189 208 RMPQELIEASNWHGFFLPEK 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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