AutismKB 2.0

Annotation Detail for EDEM3


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Basic Information Top
Gene Symbol:EDEM3 ( C1orf22 )
Gene Full Name: ER degradation enhancer, mannosidase alpha-like 3
Band: 1q25.3
Quick LinksEntrez ID:80267; OMIM: 610214; Uniprot ID:EDEM3_HUMAN; ENSEMBL ID: ENSG00000116406; HGNC ID: 16787
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
blastocyst1 / 6231916
fetus32 / 56401256
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult80 / 193912141
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor1 / 9417810
cervical tumor2 / 3436658
chondrosarcoma3 / 8282336
colorectal tumor5 / 11424643
esophageal tumor1 / 1729057
gastrointestinal tumor6 / 11936950
germ cell tumor5 / 26384518
glioma2 / 10688318
head and neck tumor8 / 13630258
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor2 / 9635920
lung tumor1 / 1031279
lymphoma2 / 7175527
non-neoplasia3 / 9725030
normal114 / 336030733
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer15 / 102680146
retinoblastoma1 / 4635621
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood0 / 1234780 
bone4 / 7165555
bone marrow0 / 488010 
brain35 / 110098931
cervix2 / 4817141
connective tissue3 / 14925520
ear1 / 1621261
embryonic tissue14 / 21572264
esophagus1 / 2020949
eye9 / 21105442
heart6 / 8962666
intestine8 / 23447234
kidney7 / 21177733
larynx2 / 2414582
liver4 / 20774319
lung23 / 33697468
lymph2 / 4427045
lymph node1 / 9161010
mammary gland3 / 15327119
mouth4 / 6705259
muscle6 / 10771555
nerve0 / 157680 
ovary1 / 1020519
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta13 / 28082546
prostate17 / 18934589
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach5 / 9661951
testis8 / 33044224
thymus2 / 8113124
thyroid3 / 4747363
tonsil0 / 169990 
trachea8 / 52413152
umbilical cord0 / 136800 
uterus11 / 23287847
vascular1 / 5178019
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220342_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.05
Adipocyte5.2
AdrenalCortex5
Adrenalgland3.9
Amygdala4.9
Appendix4.7
AtrioventricularNode3.7
BDCA4+_DentriticCells7.05
Bonemarrow4.65
BronchialEpithelialCells4.85
CD105+_Endothelial6.45
CD14+_Monocytes5
CD19+_BCells(neg._sel.)5.35
CD33+_Myeloid13.2
CD34+6.6
CD4+_Tcells6.8
CD56+_NKCells5.85
CD71+_EarlyErythroid5.25
CD8+_Tcells6.55
CardiacMyocytes6.1
Caudatenucleus4.2
Cerebellum3.8
CerebellumPeduncles5.3
CiliaryGanglion3.35
CingulateCortex4.8
Colorectaladenocarcinoma4.65
DorsalRootGanglion3.6
FetalThyroid4.55
Fetalbrain4.75
Fetalliver5.95
Fetallung4.15
GlobusPallidus3.45
Heart6
Hypothalamus4.9
Kidney3.8
Leukemia_chronicMyelogenousK-5624.25
Leukemia_promyelocytic-HL-604.1
Leukemialymphoblastic(MOLT-4)4
Liver6.2
Lung4.9
Lymphnode4.1
Lymphoma_burkitts(Daudi)5.95
Lymphoma_burkitts(Raji)6.6
MedullaOblongata4.2
OccipitalLobe4.2
OlfactoryBulb3.7
Ovary3.15
Pancreas3.75
PancreaticIslet7.8
ParietalLobe4.9
Pituitary6.8
Placenta4.9
Pons4.45
PrefrontalCortex5.75
Prostate5.45
Salivarygland3.7
SkeletalMuscle5.5
Skin3.65
SmoothMuscle5.35
Spinalcord4.95
SubthalamicNucleus4.25
SuperiorCervicalGanglion5.55
TemporalLobe4.3
Testis4.05
TestisGermCell3.8
TestisIntersitial3.95
TestisLeydigCell4.65
TestisSeminiferousTubule4
Thalamus4.7
Thymus3.7
Thyroid5.75
Tongue4.6
Tonsil4.65
Trachea5.85
TrigeminalGanglion4.7
Uterus4.2
UterusCorpus4.2
WholeBlood5.1
Wholebrain3.7
colon6.05
pineal_day6.36
pineal_night5.62
retina5.525
small_intestine4.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P221552
  • 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
Amygdala4.79 ± 0.25
Basal Forebrain4.7 ± 0.4
Basal Part of Pons4.77 ± 0.46
Cerebellar Cortex5.24 ± 0.25
Cerebellar Nuclei4.7 ± 0.28
Claustrum4.54 ± 0.77
Epithalamus4.97 ± 0.32
Frontal Lobe4.95 ± 0.4
Globus Pallidus4.5 ± 0.39
Hypothalamus5.01 ± 0.51
Insula5.08 ± 0.36
Limbic Lobe4.72 ± 0.43
Mesencephalon4.97 ± 0.42
Myelencephalon4.89 ± 0.42
Occipital Lobe5 ± 0.36
Parietal Lobe4.88 ± 0.53
Pontine Tegmentum4.87 ± 0.53
Striatum4.51 ± 0.41
Subthalamus4.61 ± 0.31
Temporal Lobe4.87 ± 0.43
Thalamus4.99 ± 0.44
White Matter4.94 ± 0.5
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Edem3CBCerebellum13.95
17.79
Edem3CTXCerebral cortex13.27
9.67
Edem3HIPHippocampal region14.55
14.88
Edem3HPFHippocampal formation16.24
15.25
Edem3HYHypothalamus1.59
1.41
Edem3LSXLateral septal complex0.71
0.55
Edem3MBMidbrain8.33
8.89
Edem3MYMedulla8.05
8.96
Edem3OLFOlfactory bulb10.22
7.14
Edem3PPons7.91
9.21
Edem3PALPallidum2.29
2.22
Edem3RHPRetrohippocampal region19.76
16.32
Edem3sAMYStriatum-like amygdalar nuclei2.21
2.03
Edem3STRStriatum2.1
1.63
Edem3STRdStriatum dorsal region2.24
1.71
Edem3STRvStriatum ventral region1.57
1.12
Edem3THThalamus6.68
5.38
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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