AutismKB 2.0

Annotation Detail for EMILIN1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:EMILIN1 ( DKFZp586M121,EMI,EMILIN,gp115 )
Gene Full Name: elastin microfibril interfacer 1
Band: 2p23.3
Quick LinksEntrez ID:11117; OMIM: 130660; Uniprot ID:EMIL1_HUMAN; ENSEMBL ID: ENSG00000138080; HGNC ID: 19880
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 body12 / 70761169
blastocyst4 / 6231964
fetus15 / 56401226
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult84 / 193912143
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma18 / 82823217
colorectal tumor2 / 11424617
esophageal tumor2 / 17290115
gastrointestinal tumor4 / 11936933
germ cell tumor13 / 26384549
glioma3 / 10688328
head and neck tumor3 / 13630222
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal112 / 336030733
ovarian tumor6 / 7668278
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS31 / 125680246
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone12 / 71655167
bone marrow0 / 488010 
brain33 / 110098929
cervix1 / 4817120
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue18 / 21572283
esophagus2 / 2020998
eye20 / 21105494
heart1 / 8962611
intestine11 / 23447246
kidney4 / 21177718
larynx0 / 241450 
liver1 / 2077434
lung23 / 33697468
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth0 / 670520 
muscle0 / 1077150 
nerve1 / 1576863
ovary15 / 102051146
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta8 / 28082528
prostate15 / 18934579
salivary gland3 / 20155148
skin1 / 2105744
spleen2 / 5395237
stomach4 / 9661941
testis4 / 33044212
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus14 / 23287860
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204163_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.2
Adipocyte14.45
AdrenalCortex10.65
Adrenalgland8.55
Amygdala6.75
Appendix9.05
AtrioventricularNode9.1
BDCA4+_DentriticCells6.95
Bonemarrow7.55
BronchialEpithelialCells6.2
CD105+_Endothelial7.2
CD14+_Monocytes7.8
CD19+_BCells(neg._sel.)7.1
CD33+_Myeloid9.45
CD34+9.15
CD4+_Tcells7.45
CD56+_NKCells7.55
CD71+_EarlyErythroid6.75
CD8+_Tcells5.95
CardiacMyocytes19.8
Caudatenucleus7.95
Cerebellum6
CerebellumPeduncles9.05
CiliaryGanglion6.85
CingulateCortex7.95
Colorectaladenocarcinoma7
DorsalRootGanglion7.5
FetalThyroid7.15
Fetalbrain7.45
Fetalliver6.25
Fetallung29.55
GlobusPallidus5.5
Heart13.15
Hypothalamus7.75
Kidney6.9
Leukemia_chronicMyelogenousK-5626.4
Leukemia_promyelocytic-HL-606.45
Leukemialymphoblastic(MOLT-4)5.55
Liver9.85
Lung15.5
Lymphnode12.05
Lymphoma_burkitts(Daudi)9.45
Lymphoma_burkitts(Raji)10.3
MedullaOblongata6.2
OccipitalLobe6.7
OlfactoryBulb5.85
Ovary14
Pancreas6.2
PancreaticIslet7.9
ParietalLobe9.6
Pituitary8.8
Placenta7.75
Pons7.2
PrefrontalCortex8
Prostate28.95
Salivarygland6.25
SkeletalMuscle10.8
Skin7.65
SmoothMuscle190.45
Spinalcord10.35
SubthalamicNucleus6.85
SuperiorCervicalGanglion8.9
TemporalLobe6.75
Testis6.25
TestisGermCell7.6
TestisIntersitial5.95
TestisLeydigCell7.3
TestisSeminiferousTubule6.35
Thalamus10.55
Thymus5.4
Thyroid9.15
Tongue7.15
Tonsil7.25
Trachea7.95
TrigeminalGanglion7.4
Uterus146.5
UterusCorpus20.8
WholeBlood7.2
Wholebrain5.2
colon7.4
pineal_day8.48
pineal_night8.14
retina9.05
small_intestine7.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P165848
  • 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
Amygdala5.62 ± 0.57
Basal Forebrain5.85 ± 0.28
Basal Part of Pons5.63 ± 0.4
Cerebellar Cortex5.44 ± 0.34
Cerebellar Nuclei5.69 ± 0.45
Claustrum6 ± 0.52
Epithalamus5.73 ± 0.23
Frontal Lobe5.61 ± 0.44
Globus Pallidus6.47 ± 0.39
Hypothalamus5.78 ± 0.66
Insula5.48 ± 0.24
Limbic Lobe5.69 ± 0.55
Mesencephalon5.74 ± 0.45
Myelencephalon5.8 ± 0.45
Occipital Lobe5.73 ± 0.56
Parietal Lobe5.59 ± 0.44
Pontine Tegmentum5.54 ± 0.47
Striatum6.08 ± 0.42
Subthalamus5.35 ± 0.52
Temporal Lobe5.61 ± 0.46
Thalamus5.88 ± 0.38
White Matter5.5 ± 0.29
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Emilin1RHPRetrohippocampal region0
0
Emilin1sAMYStriatum-like amygdalar nuclei0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00137159 24 383 406 RGTELGGAAGQGGHPPGYTSLASR 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