AutismKB 2.0

Annotation Detail for ELAVL2


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Basic Information Top
Gene Symbol:ELAVL2 ( HEL-N1,HELN1,HUB )
Gene Full Name: ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)
Band: 9p21.3
Quick LinksEntrez ID:1993; OMIM: 601673; Uniprot ID:ELAV2_HUMAN; ENSEMBL ID: ENSG00000107105; HGNC ID: 3313
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
blastocyst0 / 623190 
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult15 / 19391217
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor3 / 26384511
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal51 / 336030715
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
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 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain26 / 110098923
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye6 / 21105428
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis25 / 33044275
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208427_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.9
Adipocyte5.95
AdrenalCortex6.95
Adrenalgland5.25
Amygdala6.3
Appendix9.9
AtrioventricularNode6.45
BDCA4+_DentriticCells6
Bonemarrow6.25
BronchialEpithelialCells5.8
CD105+_Endothelial6.1
CD14+_Monocytes6.45
CD19+_BCells(neg._sel.)6.2
CD33+_Myeloid7.45
CD34+7.35
CD4+_Tcells6.15
CD56+_NKCells6.95
CD71+_EarlyErythroid5.7
CD8+_Tcells5.55
CardiacMyocytes8.55
Caudatenucleus5.3
Cerebellum4.95
CerebellumPeduncles7
CiliaryGanglion7.15
CingulateCortex6.9
Colorectaladenocarcinoma5.95
DorsalRootGanglion7.25
FetalThyroid8.75
Fetalbrain8.3
Fetalliver5.25
Fetallung4.6
GlobusPallidus5.05
Heart8.45
Hypothalamus7.55
Kidney5.2
Leukemia_chronicMyelogenousK-5625.45
Leukemia_promyelocytic-HL-605.35
Leukemialymphoblastic(MOLT-4)4.6
Liver8.55
Lung6.65
Lymphnode4.9
Lymphoma_burkitts(Daudi)7.9
Lymphoma_burkitts(Raji)8.9
MedullaOblongata5.6
OccipitalLobe7
OlfactoryBulb4.6
Ovary4.25
Pancreas4.95
PancreaticIslet6.5
ParietalLobe6.65
Pituitary6.9
Placenta6
Pons6.5
PrefrontalCortex7.95
Prostate6.8
Salivarygland5
SkeletalMuscle8.05
Skin7.6
SmoothMuscle6.7
Spinalcord6.2
SubthalamicNucleus5.9
SuperiorCervicalGanglion12.1
TemporalLobe5.8
Testis5.2
TestisGermCell8.4
TestisIntersitial7.9
TestisLeydigCell7.15
TestisSeminiferousTubule5.25
Thalamus6.15
Thymus4.5
Thyroid7.45
Tongue8.75
Tonsil5.9
Trachea4.9
TrigeminalGanglion12.5
Uterus4.75
UterusCorpus8.1
WholeBlood6.45
Wholebrain6.15
colon6
pineal_day7.4
pineal_night7.18
retina7.225
small_intestine5.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7570_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
Amygdala6.5 ± 0.51
Basal Forebrain6.78 ± 0.51
Basal Part of Pons7.21 ± 0.34
Cerebellar Cortex6.79 ± 0.28
Cerebellar Nuclei6.68 ± 0.39
Claustrum7.06 ± 0.54
Epithalamus5.47 ± 1.17
Frontal Lobe6.76 ± 0.41
Globus Pallidus5.79 ± 0.74
Hypothalamus6.78 ± 0.54
Insula6.72 ± 0.23
Limbic Lobe6.44 ± 0.95
Mesencephalon6.87 ± 0.64
Myelencephalon6.46 ± 0.81
Occipital Lobe6.27 ± 0.79
Parietal Lobe6.79 ± 0.52
Pontine Tegmentum6.39 ± 0.62
Striatum4.83 ± 0.72
Subthalamus6.64 ± 0.49
Temporal Lobe6.62 ± 0.56
Thalamus6.8 ± 0.47
White Matter3.75 ± 0.75
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Elavl2CBCerebellum37.9
63.82
Elavl2CTXCerebral cortex92.23
89.36
Elavl2HIPHippocampal region63.97
100
Elavl2HPFHippocampal formation77.99
100
Elavl2HYHypothalamus74.18
80.23
Elavl2LSXLateral septal complex36.49
31.44
Elavl2MBMidbrain87.47
97.91
Elavl2MYMedulla86.6
100
Elavl2OLFOlfactory bulb84.43
89.55
Elavl2PPons84.85
100
Elavl2PALPallidum70.77
89.7
Elavl2RHPRetrohippocampal region97.28
98.56
Elavl2sAMYStriatum-like amygdalar nuclei66.15
68.53
Elavl2STRStriatum33.05
35.51
Elavl2STRdStriatum dorsal region26.83
30.53
Elavl2STRvStriatum ventral region35.97
36.26
Elavl2THThalamus89.11
90.65
Peptide Top

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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