AutismKB 2.0

Annotation Detail for COPZ1


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Basic Information Top
Gene Symbol:COPZ1 ( COPZ,zeta1-COP )
Gene Full Name: coatomer protein complex, subunit zeta 1
Band: 12q13.13
Quick LinksEntrez ID:22818; OMIM: NA; Uniprot ID:COPZ1_HUMAN; ENSEMBL ID: ENSG00000111481; HGNC ID: 2243
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 body10 / 70761141
blastocyst4 / 6231964
fetus80 / 564012141
neonate9 / 31097289
infant8 / 23620338
juvenile9 / 55556161
adult331 / 1939121170
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma4 / 17475228
breast (mammary gland) tumor29 / 94178307
cervical tumor30 / 34366872
chondrosarcoma18 / 82823217
colorectal tumor26 / 114246227
esophageal tumor2 / 17290115
gastrointestinal tumor25 / 119369209
germ cell tumor46 / 263845174
glioma16 / 106883149
head and neck tumor16 / 136302117
kidney tumor8 / 68959116
leukemia13 / 95842135
liver tumor24 / 96359249
lung tumor13 / 103127126
lymphoma7 / 7175597
non-neoplasia20 / 97250205
normal528 / 3360307157
ovarian tumor13 / 76682169
pancreatic tumor11 / 104616105
primitive neuroectodermal tumor of the CNS38 / 125680302
prostate cancer17 / 102680165
retinoblastoma10 / 46356215
skin tumor14 / 124949112
soft tissue/muscle tissue tumor14 / 125191111
uterine tumor22 / 90257243
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland6 / 33197180
ascites4 / 4001599
bladder7 / 29757235
blood14 / 123478113
bone15 / 71655209
bone marrow10 / 48801204
brain191 / 1100989173
cervix37 / 48171768
connective tissue26 / 149255174
ear1 / 1621261
embryonic tissue32 / 215722148
esophagus2 / 2020998
eye32 / 211054151
heart30 / 89626334
intestine54 / 234472230
kidney37 / 211777174
larynx5 / 24145207
liver33 / 207743158
lung60 / 336974178
lymph3 / 4427067
lymph node21 / 91610229
mammary gland31 / 153271202
mouth2 / 6705229
muscle6 / 10771555
nerve5 / 15768317
ovary17 / 102051166
pancreas24 / 214812111
parathyroid3 / 20539146
pharynx4 / 4132896
pituitary gland5 / 16585301
placenta42 / 280825149
prostate44 / 189345232
salivary gland10 / 20155496
skin25 / 210574118
spleen5 / 5395292
stomach27 / 96619279
testis33 / 33044299
thymus20 / 81131246
thyroid6 / 47473126
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord4 / 13680292
uterus62 / 232878266
vascular7 / 51780135
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217726_at
Cell line Expression level Expression bar
721_B_lymphoblasts169.55
Adipocyte92.2
AdrenalCortex71.95
Adrenalgland98.55
Amygdala63.55
Appendix55.75
AtrioventricularNode41
BDCA4+_DentriticCells234.1
Bonemarrow79
BronchialEpithelialCells288.8
CD105+_Endothelial181.55
CD14+_Monocytes245.2
CD19+_BCells(neg._sel.)278.2
CD33+_Myeloid233.2
CD34+167.25
CD4+_Tcells170.1
CD56+_NKCells448.45
CD71+_EarlyErythroid139.7
CD8+_Tcells132.5
CardiacMyocytes155.9
Caudatenucleus58.5
Cerebellum82.45
CerebellumPeduncles100.35
CiliaryGanglion40.15
CingulateCortex66.1
Colorectaladenocarcinoma76.85
DorsalRootGanglion57.55
FetalThyroid188.85
Fetalbrain85.95
Fetalliver76
Fetallung147.2
GlobusPallidus40.25
Heart45.15
Hypothalamus74.8
Kidney103.5
Leukemia_chronicMyelogenousK-562365.7
Leukemia_promyelocytic-HL-6067.65
Leukemialymphoblastic(MOLT-4)87.2
Liver101.8
Lung162.1
Lymphnode84.6
Lymphoma_burkitts(Daudi)111.5
Lymphoma_burkitts(Raji)84.6
MedullaOblongata65.35
OccipitalLobe56.8
OlfactoryBulb55.65
Ovary70.95
Pancreas116.55
PancreaticIslet170.85
ParietalLobe68.1
Pituitary239.95
Placenta121.45
Pons51.65
PrefrontalCortex106.95
Prostate113.5
Salivarygland110
SkeletalMuscle81.55
Skin53.2
SmoothMuscle321.35
Spinalcord95.1
SubthalamicNucleus55
SuperiorCervicalGanglion110.45
TemporalLobe65.75
Testis62.85
TestisGermCell53.35
TestisIntersitial47.25
TestisLeydigCell58.55
TestisSeminiferousTubule50.95
Thalamus60.6
Thymus156.05
Thyroid277.9
Tongue95.3
Tonsil95.75
Trachea99.6
TrigeminalGanglion60.2
Uterus46.85
UterusCorpus77.7
WholeBlood114
Wholebrain57.9
colon108.45
pineal_day117.2
pineal_night100.24
retina153.7
small_intestine130.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P389959
  • 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
Amygdala9.43 ± 0.2
Basal Forebrain9.35 ± 0.15
Basal Part of Pons9.59 ± 0.19
Cerebellar Cortex9.33 ± 0.16
Cerebellar Nuclei9.82 ± 0.24
Claustrum9.6 ± 0.25
Epithalamus9.33 ± 0.13
Frontal Lobe9.57 ± 0.21
Globus Pallidus9.53 ± 0.19
Hypothalamus9.57 ± 0.12
Insula9.57 ± 0.2
Limbic Lobe9.52 ± 0.21
Mesencephalon9.57 ± 0.26
Myelencephalon9.49 ± 0.21
Occipital Lobe9.3 ± 0.16
Parietal Lobe9.42 ± 0.21
Pontine Tegmentum9.45 ± 0.18
Striatum9.61 ± 0.17
Subthalamus9.54 ± 0.24
Temporal Lobe9.53 ± 0.21
Thalamus9.48 ± 0.18
White Matter9.55 ± 0.12
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Copz1CBCerebellum24.55
41.12
Copz1CTXCerebral cortex92.77
90.51
Copz1HIPHippocampal region82.14
100
Copz1HPFHippocampal formation74.89
100
Copz1HYHypothalamus45.56
46.29
Copz1LSXLateral septal complex56.07
51.54
Copz1MBMidbrain41.37
44.34
Copz1MYMedulla38.02
49.56
Copz1OLFOlfactory bulb75.87
83.51
Copz1PPons32.52
40.4
Copz1PALPallidum43.94
50.57
Copz1RHPRetrohippocampal region63.19
63.02
Copz1sAMYStriatum-like amygdalar nuclei76.7
72.87
Copz1STRStriatum59.72
53.1
Copz1STRdStriatum dorsal region54.17
48.03
Copz1STRvStriatum ventral region70.99
59.47
Copz1THThalamus53.69
56.42
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
COPZ1_HUMAN_0 0 0 0 AILILDNDGDR PRIDE
COPZ1_HUMAN_0 0 0 0 YYDDTYPSVK PRIDE
COPZ1_HUMAN_1 14 1 14 MEALILEPSLYTVK PRIDE
COPZ1_HUMAN_14 15 14 28 AILILDNDGDRLFAK PRIDE
COPZ1_HUMAN_14 25 14 38 AILILDNDGDRLFAKYYDDTYPSVK PRIDE
COPZ1_HUMAN_145 23 145 167 VALRGEDVPLTEQTVSQVLQSAK PRIDE
COPZ1_HUMAN_145 27 145 171 VALRGEDVPLTEQTVSQVLQSAKEQIK PRIDE
COPZ1_HUMAN_15 11 15 25 AILILDNDGDR PRIDE
COPZ1_HUMAN_29 10 29 38 YYDDTYPSVK PRIDE
PAp00039453 33 113 145 ALLENMEGLFLAVDEIVDGGVILESDPQQVVHR 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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