AutismKB 2.0

Annotation Detail for ERGIC3


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Basic Information Top
Gene Symbol:ERGIC3 ( C20orf47,CGI-54,Erv46,NY-BR-84,PRO0989,SDBCAG84,dJ477O4.2 )
Gene Full Name: ERGIC and golgi 3
Band: 20q11.22
Quick LinksEntrez ID:51614; OMIM: NA; Uniprot ID:ERGI3_HUMAN; ENSEMBL ID: ENSG00000125991; HGNC ID: 15927
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 body13 / 70761183
blastocyst8 / 62319128
fetus64 / 564012113
neonate1 / 3109732
infant3 / 23620127
juvenile4 / 5555671
adult524 / 1939121270
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma0 / 174750 
breast (mammary gland) tumor39 / 94178414
cervical tumor10 / 34366290
chondrosarcoma18 / 82823217
colorectal tumor107 / 114246936
esophageal tumor4 / 17290231
gastrointestinal tumor47 / 119369393
germ cell tumor33 / 263845125
glioma17 / 106883159
head and neck tumor46 / 136302337
kidney tumor20 / 68959290
leukemia29 / 95842302
liver tumor34 / 96359352
lung tumor28 / 103127271
lymphoma2 / 7175527
non-neoplasia9 / 9725092
normal413 / 3360307122
ovarian tumor40 / 76682521
pancreatic tumor22 / 104616210
primitive neuroectodermal tumor of the CNS10 / 12568079
prostate cancer25 / 102680243
retinoblastoma7 / 46356151
skin tumor35 / 124949280
soft tissue/muscle tissue tumor12 / 12519195
uterine tumor15 / 90257166
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue4 / 13106305
adrenal gland9 / 33197271
ascites15 / 40015374
bladder0 / 297570 
blood29 / 123478234
bone17 / 71655237
bone marrow17 / 48801348
brain121 / 1100989109
cervix17 / 48171352
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue37 / 215722171
esophagus4 / 20209197
eye31 / 211054146
heart16 / 89626178
intestine138 / 234472588
kidney42 / 211777198
larynx7 / 24145289
liver43 / 207743206
lung57 / 336974169
lymph2 / 4427045
lymph node12 / 91610130
mammary gland52 / 153271339
mouth11 / 67052164
muscle8 / 10771574
nerve2 / 15768126
ovary54 / 102051529
pancreas34 / 214812158
parathyroid5 / 20539243
pharynx9 / 41328217
pituitary gland6 / 16585361
placenta49 / 280825174
prostate33 / 189345174
salivary gland3 / 20155148
skin55 / 210574261
spleen5 / 5395292
stomach24 / 96619248
testis37 / 330442111
thymus0 / 811310 
thyroid31 / 47473653
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord1 / 1368073
uterus31 / 232878133
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 216032_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts329.15
Adipocyte312.8
AdrenalCortex144.75
Adrenalgland296.8
Amygdala35.6
Appendix45.55
AtrioventricularNode38.15
BDCA4+_DentriticCells404.65
Bonemarrow146.9
BronchialEpithelialCells207
CD105+_Endothelial202.05
CD14+_Monocytes373.1
CD19+_BCells(neg._sel.)240.3
CD33+_Myeloid204.45
CD34+477.1
CD4+_Tcells296.95
CD56+_NKCells257.55
CD71+_EarlyErythroid98.15
CD8+_Tcells300.9
CardiacMyocytes271.6
Caudatenucleus77.5
Cerebellum135.1
CerebellumPeduncles115.2
CiliaryGanglion18.6
CingulateCortex63.1
Colorectaladenocarcinoma241.5
DorsalRootGanglion30.9
FetalThyroid272.65
Fetalbrain194
Fetalliver53.75
Fetallung243.5
GlobusPallidus56.3
Heart213.5
Hypothalamus123.05
Kidney218.65
Leukemia_chronicMyelogenousK-562328.95
Leukemia_promyelocytic-HL-60155.4
Leukemialymphoblastic(MOLT-4)355.9
Liver202.05
Lung128.15
Lymphnode165.9
Lymphoma_burkitts(Daudi)243.4
Lymphoma_burkitts(Raji)173.8
MedullaOblongata52.3
OccipitalLobe67.65
OlfactoryBulb118.6
Ovary122.05
Pancreas257.9
PancreaticIslet189.2
ParietalLobe59.1
Pituitary182.45
Placenta324
Pons43.3
PrefrontalCortex83.9
Prostate116.55
Salivarygland142.3
SkeletalMuscle45.45
Skin45.55
SmoothMuscle512.65
Spinalcord133.65
SubthalamicNucleus45.95
SuperiorCervicalGanglion63.1
TemporalLobe67.65
Testis547
TestisGermCell392.05
TestisIntersitial505.1
TestisLeydigCell389.35
TestisSeminiferousTubule324.3
Thalamus113.6
Thymus235.75
Thyroid252.35
Tongue54.5
Tonsil125.55
Trachea275.9
TrigeminalGanglion28.85
Uterus45.05
UterusCorpus113.75
WholeBlood203.8
Wholebrain91.05
colon226.4
pineal_day308.76
pineal_night386.54
retina376.425
small_intestine226.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P216313
  • 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
Amygdala5.36 ± 0.47
Basal Forebrain5.52 ± 0.47
Basal Part of Pons6.03 ± 0.53
Cerebellar Cortex5.93 ± 0.61
Cerebellar Nuclei5.14 ± 0.68
Claustrum4.9 ± 1.07
Epithalamus6.48 ± 0.69
Frontal Lobe5.85 ± 0.55
Globus Pallidus5.59 ± 0.32
Hypothalamus6.07 ± 0.47
Insula5.87 ± 0.48
Limbic Lobe5.37 ± 0.66
Mesencephalon5.55 ± 0.57
Myelencephalon5.64 ± 0.61
Occipital Lobe4.99 ± 0.55
Parietal Lobe5.51 ± 0.54
Pontine Tegmentum5.49 ± 0.65
Striatum5.28 ± 0.53
Subthalamus5.9 ± 0.31
Temporal Lobe5.8 ± 0.54
Thalamus5.53 ± 0.54
White Matter5.72 ± 0.62
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ergic3CBCerebellum80.6
100
Ergic3CTXCerebral cortex100
100
Ergic3HIPHippocampal region100
100
Ergic3HPFHippocampal formation100
100
Ergic3HYHypothalamus100
100
Ergic3LSXLateral septal complex100
100
Ergic3MBMidbrain100
100
Ergic3MYMedulla83.45
100
Ergic3OLFOlfactory bulb100
100
Ergic3PPons100
100
Ergic3PALPallidum100
100
Ergic3RHPRetrohippocampal region100
100
Ergic3sAMYStriatum-like amygdalar nuclei100
100
Ergic3STRStriatum100
100
Ergic3STRdStriatum dorsal region100
100
Ergic3STRvStriatum ventral region100
100
Ergic3THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ERGI3_HUMAN_1 21 1 21 MEALGKLKQFDAYPKTLEDFR PRIDE
PAp00005750 14 196 209 NEGCQVYGFLEVNK 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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