AutismKB 2.0

Annotation Detail for ERGIC2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ERGIC2 ( Erv41,MGC111152,PTX1,cd002 )
Gene Full Name: ERGIC and golgi 2
Band: 12p11.22
Quick LinksEntrez ID:51290; OMIM: 612236; Uniprot ID:ERGI2_HUMAN; ENSEMBL ID: ENSG00000087502; HGNC ID: 30208
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 body7 / 7076198
blastocyst3 / 6231948
fetus16 / 56401228
neonate0 / 310970 
infant3 / 23620127
juvenile2 / 5555635
adult94 / 193912148
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma4 / 17475228
breast (mammary gland) tumor6 / 9417863
cervical tumor2 / 3436658
chondrosarcoma5 / 8282360
colorectal tumor2 / 11424617
esophageal tumor4 / 17290231
gastrointestinal tumor1 / 1193698
germ cell tumor12 / 26384545
glioma2 / 10688318
head and neck tumor5 / 13630236
kidney tumor8 / 68959116
leukemia5 / 9584252
liver tumor5 / 9635951
lung tumor0 / 1031270 
lymphoma4 / 7175555
non-neoplasia5 / 9725051
normal179 / 336030753
ovarian tumor3 / 7668239
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer8 / 10268077
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland4 / 33197120
ascites0 / 400150 
bladder2 / 2975767
blood4 / 12347832
bone6 / 7165583
bone marrow3 / 4880161
brain45 / 110098940
cervix2 / 4817141
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue15 / 21572269
esophagus4 / 20209197
eye3 / 21105414
heart3 / 8962633
intestine7 / 23447229
kidney22 / 211777103
larynx0 / 241450 
liver9 / 20774343
lung17 / 33697450
lymph0 / 442700 
lymph node3 / 9161032
mammary gland8 / 15327152
mouth0 / 670520 
muscle5 / 10771546
nerve0 / 157680 
ovary8 / 10205178
pancreas4 / 21481218
parathyroid4 / 20539194
pharynx7 / 41328169
pituitary gland1 / 1658560
placenta35 / 280825124
prostate13 / 18934568
salivary gland1 / 2015549
skin7 / 21057433
spleen2 / 5395237
stomach4 / 9661941
testis14 / 33044242
thymus2 / 8113124
thyroid6 / 47473126
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus10 / 23287842
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218135_at
Cell line Expression level Expression bar
721_B_lymphoblasts273.45
Adipocyte47.75
AdrenalCortex18.7
Adrenalgland11.05
Amygdala24.65
Appendix17.2
AtrioventricularNode14.05
BDCA4+_DentriticCells129.25
Bonemarrow12.25
BronchialEpithelialCells167.5
CD105+_Endothelial77.1
CD14+_Monocytes39.4
CD19+_BCells(neg._sel.)99.8
CD33+_Myeloid54.15
CD34+83.4
CD4+_Tcells78.9
CD56+_NKCells95.75
CD71+_EarlyErythroid17.55
CD8+_Tcells96.05
CardiacMyocytes51.4
Caudatenucleus14.45
Cerebellum10.65
CerebellumPeduncles18.7
CiliaryGanglion11
CingulateCortex51.15
Colorectaladenocarcinoma20.4
DorsalRootGanglion13.75
FetalThyroid17.35
Fetalbrain17.1
Fetalliver13.25
Fetallung12.65
GlobusPallidus14.2
Heart20.25
Hypothalamus34.7
Kidney10.75
Leukemia_chronicMyelogenousK-56218.35
Leukemia_promyelocytic-HL-6026.9
Leukemialymphoblastic(MOLT-4)14.9
Liver18.3
Lung10.85
Lymphnode15.05
Lymphoma_burkitts(Daudi)20.35
Lymphoma_burkitts(Raji)20.3
MedullaOblongata17.95
OccipitalLobe36.9
OlfactoryBulb53.7
Ovary17.2
Pancreas26.9
PancreaticIslet44.35
ParietalLobe19.8
Pituitary20.15
Placenta18.75
Pons16.85
PrefrontalCortex37.5
Prostate18.85
Salivarygland10.45
SkeletalMuscle20.55
Skin13.65
SmoothMuscle142.05
Spinalcord18.35
SubthalamicNucleus16.2
SuperiorCervicalGanglion20.25
TemporalLobe17.3
Testis13.4
TestisGermCell78.55
TestisIntersitial71.65
TestisLeydigCell36.3
TestisSeminiferousTubule28.15
Thalamus15.2
Thymus8.3
Thyroid23.6
Tongue20.85
Tonsil20
Trachea17.15
TrigeminalGanglion18.2
Uterus15.45
UterusCorpus15.9
WholeBlood29.5
Wholebrain15.6
colon18.7
pineal_day58.12
pineal_night57.54
retina21.025
small_intestine13.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6525_PI416261804
  • 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
Amygdala6.66 ± 0.35
Basal Forebrain6.75 ± 0.15
Basal Part of Pons6.62 ± 0.23
Cerebellar Cortex6.72 ± 0.33
Cerebellar Nuclei6.66 ± 0.35
Claustrum6.71 ± 0.42
Epithalamus6.76 ± 0.41
Frontal Lobe6.78 ± 0.33
Globus Pallidus6.69 ± 0.38
Hypothalamus6.82 ± 0.3
Insula6.71 ± 0.29
Limbic Lobe6.65 ± 0.37
Mesencephalon6.64 ± 0.43
Myelencephalon6.65 ± 0.37
Occipital Lobe6.58 ± 0.42
Parietal Lobe6.72 ± 0.31
Pontine Tegmentum6.7 ± 0.43
Striatum6.63 ± 0.29
Subthalamus6.77 ± 0.23
Temporal Lobe6.72 ± 0.3
Thalamus6.7 ± 0.26
White Matter7.37 ± 0.19
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00040882 22 217 238 IDHLSFGELVPAIINPLDGTEK 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