AutismKB 2.0

Annotation Detail for ELN


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Basic Information Top
Gene Symbol:ELN ( FLJ38671,FLJ43523,SVAS,WBS,WS )
Gene Full Name: elastin
Band: 7q11.23
Quick LinksEntrez ID:2006; OMIM: 130160; Uniprot ID:ELN_HUMAN; ENSEMBL ID: ENSG00000049540; HGNC ID: 3327
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 body4 / 7076156
blastocyst3 / 6231948
fetus104 / 564012184
neonate7 / 31097225
infant0 / 236200 
juvenile7 / 55556125
adult213 / 1939121109
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 tumor1 / 3436629
chondrosarcoma11 / 82823132
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor16 / 26384560
glioma5 / 10688346
head and neck tumor26 / 136302190
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia78 / 97250802
normal643 / 3360307191
ovarian tumor2 / 7668226
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone13 / 71655181
bone marrow0 / 488010 
brain132 / 1100989119
cervix1 / 4817120
connective tissue219 / 1492551467
ear2 / 16212123
embryonic tissue22 / 215722101
esophagus1 / 2020949
eye12 / 21105456
heart29 / 89626323
intestine12 / 23447251
kidney4 / 21177718
larynx3 / 24145124
liver5 / 20774324
lung55 / 336974163
lymph0 / 442700 
lymph node1 / 9161010
mammary gland3 / 15327119
mouth30 / 67052447
muscle16 / 107715148
nerve0 / 157680 
ovary4 / 10205139
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta125 / 280825445
prostate6 / 18934531
salivary gland0 / 201550 
skin9 / 21057442
spleen16 / 53952296
stomach12 / 96619124
testis42 / 330442127
thymus24 / 81131295
thyroid6 / 47473126
tonsil0 / 169990 
trachea49 / 52413934
umbilical cord7 / 13680511
uterus46 / 232878197
vascular8 / 51780154
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 216269_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.75
Adipocyte19.55
AdrenalCortex9.55
Adrenalgland7.55
Amygdala9.65
Appendix9.05
AtrioventricularNode7.45
BDCA4+_DentriticCells9.75
Bonemarrow10.7
BronchialEpithelialCells8.7
CD105+_Endothelial9.2
CD14+_Monocytes9.7
CD19+_BCells(neg._sel.)11.15
CD33+_Myeloid11.8
CD34+11.5
CD4+_Tcells10.05
CD56+_NKCells10.9
CD71+_EarlyErythroid9.5
CD8+_Tcells9.05
CardiacMyocytes19.25
Caudatenucleus8.05
Cerebellum7.35
CerebellumPeduncles10.15
CiliaryGanglion6.25
CingulateCortex9.1
Colorectaladenocarcinoma9
DorsalRootGanglion6.95
FetalThyroid12.75
Fetalbrain8.75
Fetalliver7.8
Fetallung16.6
GlobusPallidus6.5
Heart13.7
Hypothalamus9.55
Kidney7.2
Leukemia_chronicMyelogenousK-5628.15
Leukemia_promyelocytic-HL-608
Leukemialymphoblastic(MOLT-4)7.15
Liver12.6
Lung19.4
Lymphnode7.6
Lymphoma_burkitts(Daudi)11.45
Lymphoma_burkitts(Raji)15.45
MedullaOblongata8
OccipitalLobe8.1
OlfactoryBulb6.95
Ovary6.15
Pancreas7.35
PancreaticIslet9.55
ParietalLobe9.3
Pituitary10.65
Placenta9.55
Pons8.6
PrefrontalCortex11
Prostate10.75
Salivarygland7.3
SkeletalMuscle11.2
Skin6.85
SmoothMuscle10.3
Spinalcord9.5
SubthalamicNucleus8.05
SuperiorCervicalGanglion10.4
TemporalLobe8.4
Testis7.85
TestisGermCell7.55
TestisIntersitial7.8
TestisLeydigCell8.9
TestisSeminiferousTubule7.8
Thalamus9.15
Thymus6.85
Thyroid16.35
Tongue10.2
Tonsil8.8
Trachea7.6
TrigeminalGanglion8.9
Uterus7.5
UterusCorpus8.1
WholeBlood9.7
Wholebrain7.45
colon9.15
pineal_day11.14
pineal_night11.18
retina11.1
small_intestine8.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P215454
  • 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
Amygdala3.68 ± 0.86
Basal Forebrain3.7 ± 0.46
Basal Part of Pons3.92 ± 0.59
Cerebellar Cortex3.62 ± 0.63
Cerebellar Nuclei3.59 ± 0.68
Claustrum4.05 ± 0.78
Epithalamus3.6 ± 0.39
Frontal Lobe3.48 ± 0.78
Globus Pallidus3.96 ± 1.08
Hypothalamus3.64 ± 0.76
Insula3.13 ± 0.68
Limbic Lobe3.61 ± 0.76
Mesencephalon3.63 ± 0.7
Myelencephalon3.65 ± 0.71
Occipital Lobe3.58 ± 0.81
Parietal Lobe3.49 ± 0.72
Pontine Tegmentum3.35 ± 0.82
Striatum3.68 ± 0.61
Subthalamus3.61 ± 1.1
Temporal Lobe3.48 ± 0.76
Thalamus3.39 ± 0.72
White Matter3.6 ± 0.51
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
ElnCBCerebellum7.65
14.08
ElnCTXCerebral cortex4.89
4.59
ElnHIPHippocampal region11.1
13.4
ElnHPFHippocampal formation8.66
9.87
ElnHYHypothalamus7.62
6.58
ElnLSXLateral septal complex2.26
2.69
ElnMBMidbrain8.05
11.3
ElnMYMedulla5.24
8.19
ElnOLFOlfactory bulb10
8.35
ElnPPons5.26
9.18
ElnPALPallidum5.58
6.2
ElnRHPRetrohippocampal region4.78
5.03
ElnsAMYStriatum-like amygdalar nuclei7.07
9.16
ElnSTRStriatum3.38
4.12
ElnSTRdStriatum dorsal region2.46
3.41
ElnSTRvStriatum ventral region4.55
3.4
ElnTHThalamus12.91
13.17
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00375845 19 160 178 FPGVGVLPGVPTGAGVKPK 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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