AutismKB 2.0

Annotation Detail for ERGIC1


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Basic Information Top
Gene Symbol:ERGIC1 ( ERGIC-32,ERGIC32,FLJ39864,KIAA1181,MGC14345,NET24 )
Gene Full Name: endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1
Band: 5q35.1
Quick LinksEntrez ID:57222; OMIM: NA; Uniprot ID:ERGI1_HUMAN; ENSEMBL ID: ENSG00000113719; HGNC ID: 29205
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 body2 / 7076128
blastocyst4 / 6231964
fetus60 / 564012106
neonate1 / 3109732
infant0 / 236200 
juvenile6 / 55556107
adult390 / 1939121201
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) tumor25 / 94178265
cervical tumor5 / 34366145
chondrosarcoma9 / 82823108
colorectal tumor28 / 114246245
esophageal tumor0 / 172900 
gastrointestinal tumor10 / 11936983
germ cell tumor14 / 26384553
glioma13 / 106883121
head and neck tumor10 / 13630273
kidney tumor4 / 6895958
leukemia17 / 95842177
liver tumor8 / 9635983
lung tumor7 / 10312767
lymphoma16 / 71755222
non-neoplasia7 / 9725071
normal403 / 3360307119
ovarian tumor7 / 7668291
pancreatic tumor21 / 104616200
primitive neuroectodermal tumor of the CNS22 / 125680175
prostate cancer47 / 102680457
retinoblastoma0 / 463560 
skin tumor9 / 12494972
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor14 / 90257155
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland9 / 33197271
ascites0 / 400150 
bladder1 / 2975733
blood21 / 123478170
bone7 / 7165597
bone marrow4 / 4880181
brain58 / 110098952
cervix5 / 48171103
connective tissue9 / 14925560
ear3 / 16212185
embryonic tissue14 / 21572264
esophagus0 / 202090 
eye16 / 21105475
heart9 / 89626100
intestine49 / 234472208
kidney20 / 21177794
larynx0 / 241450 
liver18 / 20774386
lung57 / 336974169
lymph9 / 44270203
lymph node9 / 9161098
mammary gland32 / 153271208
mouth4 / 6705259
muscle8 / 10771574
nerve3 / 15768190
ovary9 / 10205188
pancreas22 / 214812102
parathyroid1 / 2053948
pharynx5 / 41328120
pituitary gland0 / 165850 
placenta23 / 28082581
prostate165 / 189345871
salivary gland1 / 2015549
skin27 / 210574128
spleen5 / 5395292
stomach10 / 96619103
testis17 / 33044251
thymus6 / 8113173
thyroid6 / 47473126
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus34 / 232878145
vascular2 / 5178038
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P97770
  • 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
Amygdala4.8 ± 0.5
Basal Forebrain4.48 ± 0.57
Basal Part of Pons4.8 ± 0.58
Cerebellar Cortex5.26 ± 0.31
Cerebellar Nuclei4.29 ± 0.37
Claustrum4.46 ± 0.8
Epithalamus4.64 ± 0.54
Frontal Lobe4.76 ± 0.46
Globus Pallidus4.45 ± 0.51
Hypothalamus4.19 ± 0.5
Insula4.72 ± 0.43
Limbic Lobe4.98 ± 0.5
Mesencephalon4.59 ± 0.57
Myelencephalon4.78 ± 0.56
Occipital Lobe5.05 ± 0.63
Parietal Lobe4.77 ± 0.49
Pontine Tegmentum4.81 ± 0.55
Striatum4.54 ± 0.65
Subthalamus4.43 ± 0.41
Temporal Lobe4.8 ± 0.48
Thalamus4.93 ± 0.53
White Matter3.77 ± 0.63
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
1200007D18RikCBCerebellum30.31
47.03
1200007D18RikCTXCerebral cortex53.88
38.27
1200007D18RikHIPHippocampal region61.09
62.08
1200007D18RikHPFHippocampal formation65.21
58.4
1200007D18RikHYHypothalamus66.99
45.02
1200007D18RikLSXLateral septal complex39.07
24.14
1200007D18RikMBMidbrain44.77
32.33
1200007D18RikMYMedulla52.47
52.51
1200007D18RikOLFOlfactory bulb65.64
49.87
1200007D18RikPPons49.9
46.41
1200007D18RikPALPallidum28.44
23.52
1200007D18RikRHPRetrohippocampal region74.98
54.48
1200007D18RiksAMYStriatum-like amygdalar nuclei31.04
18.8
1200007D18RikSTRStriatum19.39
11.68
1200007D18RikSTRdStriatum dorsal region15.34
9.48
1200007D18RikSTRvStriatum ventral region19.75
10.65
1200007D18RikTHThalamus55.46
44.43
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00005324 24 153 176 LSFGDTLQVQNIHGAFNALGGADR 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