AutismKB 2.0

Annotation Detail for EDEM1


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Basic Information Top
Gene Symbol:EDEM1 ( EDEM,FLJ51559,FLJ51560,KIAA0212 )
Gene Full Name: ER degradation enhancer, mannosidase alpha-like 1
Band: 3p26.1
Quick LinksEntrez ID:9695; OMIM: 607673; Uniprot ID:EDEM1_HUMAN; ENSEMBL ID: ENSG00000134109; HGNC ID: 18967
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 body5 / 7076170
blastocyst0 / 623190 
fetus17 / 56401230
neonate1 / 3109732
infant0 / 236200 
juvenile1 / 5555617
adult89 / 193912145
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) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma5 / 8282360
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor6 / 26384522
glioma3 / 10688328
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia7 / 9584273
liver tumor2 / 9635920
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal116 / 336030734
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer11 / 102680107
retinoblastoma0 / 463560 
skin tumor8 / 12494964
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood8 / 12347864
bone5 / 7165569
bone marrow5 / 48801102
brain16 / 110098914
cervix5 / 48171103
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye0 / 2110540 
heart3 / 8962633
intestine7 / 23447229
kidney3 / 21177714
larynx1 / 2414541
liver6 / 20774328
lung16 / 33697447
lymph1 / 4427022
lymph node19 / 91610207
mammary gland12 / 15327178
mouth1 / 6705214
muscle5 / 10771546
nerve0 / 157680 
ovary0 / 1020510 
pancreas7 / 21481232
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta15 / 28082553
prostate12 / 18934563
salivary gland0 / 201550 
skin14 / 21057466
spleen0 / 539520 
stomach0 / 966190 
testis6 / 33044218
thymus13 / 81131160
thyroid3 / 4747363
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord1 / 1368073
uterus9 / 23287838
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203279_at
Cell line Expression level Expression bar
721_B_lymphoblasts222.6
Adipocyte25.5
AdrenalCortex12.1
Adrenalgland16.55
Amygdala12.05
Appendix16.6
AtrioventricularNode12.5
BDCA4+_DentriticCells194.4
Bonemarrow42.7
BronchialEpithelialCells93.8
CD105+_Endothelial18.95
CD14+_Monocytes18.55
CD19+_BCells(neg._sel.)159.25
CD33+_Myeloid99.15
CD34+75.2
CD4+_Tcells132.45
CD56+_NKCells59.8
CD71+_EarlyErythroid7.35
CD8+_Tcells78.35
CardiacMyocytes29.65
Caudatenucleus13.2
Cerebellum8.75
CerebellumPeduncles15.05
CiliaryGanglion11.5
CingulateCortex12.05
Colorectaladenocarcinoma16.95
DorsalRootGanglion12.65
FetalThyroid19.85
Fetalbrain14.05
Fetalliver24.05
Fetallung17.5
GlobusPallidus12.2
Heart12.2
Hypothalamus9.95
Kidney13.4
Leukemia_chronicMyelogenousK-56221.8
Leukemia_promyelocytic-HL-6043.2
Leukemialymphoblastic(MOLT-4)100.7
Liver25.15
Lung20.05
Lymphnode41.55
Lymphoma_burkitts(Daudi)278.6
Lymphoma_burkitts(Raji)24.05
MedullaOblongata11.4
OccipitalLobe10.4
OlfactoryBulb7
Ovary10.75
Pancreas16.25
PancreaticIslet48
ParietalLobe17.45
Pituitary16.55
Placenta72.65
Pons14.9
PrefrontalCortex9.05
Prostate20.9
Salivarygland14
SkeletalMuscle22.8
Skin18.4
SmoothMuscle62.25
Spinalcord10.75
SubthalamicNucleus15.2
SuperiorCervicalGanglion18.6
TemporalLobe12
Testis13.45
TestisGermCell12.1
TestisIntersitial5.65
TestisLeydigCell11.25
TestisSeminiferousTubule7.85
Thalamus16.85
Thymus209.35
Thyroid19.55
Tongue17.45
Tonsil48.65
Trachea17.45
TrigeminalGanglion14.65
Uterus11.35
UterusCorpus14.95
WholeBlood51.25
Wholebrain10.2
colon16.5
pineal_day9.06
pineal_night10.68
retina17.7
small_intestine15.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P40975
  • 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
Amygdala4.54 ± 0.41
Basal Forebrain4.46 ± 0.27
Basal Part of Pons4.12 ± 0.51
Cerebellar Cortex4.17 ± 0.44
Cerebellar Nuclei3.98 ± 0.73
Claustrum4.72 ± 0.47
Epithalamus4.42 ± 0.36
Frontal Lobe4.36 ± 0.55
Globus Pallidus3.93 ± 0.55
Hypothalamus3.93 ± 0.55
Insula4.12 ± 0.68
Limbic Lobe4.43 ± 0.45
Mesencephalon4.37 ± 0.5
Myelencephalon4.33 ± 0.56
Occipital Lobe4.43 ± 0.4
Parietal Lobe4.41 ± 0.45
Pontine Tegmentum4.46 ± 0.61
Striatum4.82 ± 0.44
Subthalamus4.09 ± 0.29
Temporal Lobe4.39 ± 0.47
Thalamus4.07 ± 0.57
White Matter4.24 ± 0.39
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Edem1CBCerebellum3.81
4.63
Edem1CTXCerebral cortex2.96
2.11
Edem1HIPHippocampal region2.63
2.13
Edem1HPFHippocampal formation4.4
3.44
Edem1HYHypothalamus7.63
5.74
Edem1LSXLateral septal complex0.69
0.6
Edem1MBMidbrain4.09
4.38
Edem1MYMedulla10.29
11.82
Edem1OLFOlfactory bulb7.92
6.87
Edem1PPons10.2
12.55
Edem1PALPallidum1.56
1.47
Edem1RHPRetrohippocampal region8.42
6.06
Edem1sAMYStriatum-like amygdalar nuclei0.37
0.32
Edem1STRStriatum0.88
0.61
Edem1STRdStriatum dorsal region0.56
0.42
Edem1STRvStriatum ventral region2.54
1.46
Edem1THThalamus2.5
1.95
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00080462 8 7 14 VLGLVLLR 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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