AutismKB 2.0

Annotation Detail for CPNE7


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Basic Information Top
Gene Symbol:CPNE7 ( MGC34192 )
Gene Full Name: copine VII
Band: 16q24.3
Quick LinksEntrez ID:27132; OMIM: 605689; Uniprot ID:CPNE7_HUMAN; ENSEMBL ID: ENSG00000178773; HGNC ID: 2320
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 body0 / 707610 
blastocyst1 / 6231916
fetus15 / 56401226
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult40 / 193912120
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor13 / 119369108
germ cell tumor3 / 26384511
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor3 / 9635931
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal31 / 33603079
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites9 / 40015224
bladder0 / 297570 
blood1 / 1234788
bone1 / 7165513
bone marrow0 / 488010 
brain19 / 110098917
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine11 / 23447246
kidney2 / 2117779
larynx0 / 241450 
liver3 / 20774314
lung5 / 33697414
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth1 / 6705214
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach2 / 9661920
testis3 / 3304429
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219707_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.1
Adipocyte6.9
AdrenalCortex7.55
Adrenalgland5.85
Amygdala7.3
Appendix7.5
AtrioventricularNode6.5
BDCA4+_DentriticCells7.65
Bonemarrow6.85
BronchialEpithelialCells6.6
CD105+_Endothelial6.85
CD14+_Monocytes7.3
CD19+_BCells(neg._sel.)7.1
CD33+_Myeloid8.35
CD34+8.85
CD4+_Tcells7.25
CD56+_NKCells8.25
CD71+_EarlyErythroid6.5
CD8+_Tcells6.1
CardiacMyocytes9.05
Caudatenucleus6.25
Cerebellum5.75
CerebellumPeduncles8.1
CiliaryGanglion5.35
CingulateCortex11.75
Colorectaladenocarcinoma6.95
DorsalRootGanglion5.85
FetalThyroid7.3
Fetalbrain7
Fetalliver5.95
Fetallung5.6
GlobusPallidus5.9
Heart9.1
Hypothalamus7.65
Kidney6.6
Leukemia_chronicMyelogenousK-56214.8
Leukemia_promyelocytic-HL-606.1
Leukemialymphoblastic(MOLT-4)5.65
Liver9.15
Lung7.05
Lymphnode5.95
Lymphoma_burkitts(Daudi)8.9
Lymphoma_burkitts(Raji)10.05
MedullaOblongata6.6
OccipitalLobe6.25
OlfactoryBulb6.85
Ovary4.7
Pancreas5.85
PancreaticIslet7.4
ParietalLobe11.05
Pituitary8.25
Placenta6.8
Pons7
PrefrontalCortex8.6
Prostate7.95
Salivarygland5.55
SkeletalMuscle15.7
Skin5.6
SmoothMuscle7.7
Spinalcord8.9
SubthalamicNucleus8.7
SuperiorCervicalGanglion10.1
TemporalLobe7.8
Testis5.95
TestisGermCell5.8
TestisIntersitial6.3
TestisLeydigCell7
TestisSeminiferousTubule5.95
Thalamus13.4
Thymus5.25
Thyroid8.2
Tongue8.3
Tonsil6.8
Trachea5.8
TrigeminalGanglion9.55
Uterus5.4
UterusCorpus7.05
WholeBlood7.5
Wholebrain5.55
colon6.9
pineal_day8.38
pineal_night8.62
retina8.25
small_intestine6.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_206_PI416408490
  • 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
Amygdala4.31 ± 0.82
Basal Forebrain4.2 ± 0.33
Basal Part of Pons3.74 ± 0.67
Cerebellar Cortex3.89 ± 0.51
Cerebellar Nuclei3.89 ± 0.48
Claustrum4.5 ± 0.51
Epithalamus3.4 ± 0.64
Frontal Lobe4.48 ± 0.57
Globus Pallidus3.72 ± 1.02
Hypothalamus3.93 ± 0.37
Insula4.6 ± 0.31
Limbic Lobe4.5 ± 0.55
Mesencephalon4.37 ± 0.69
Myelencephalon4.45 ± 0.64
Occipital Lobe3.93 ± 0.55
Parietal Lobe4.23 ± 0.62
Pontine Tegmentum4.35 ± 0.54
Striatum4.39 ± 0.71
Subthalamus3.53 ± 0.62
Temporal Lobe4.65 ± 0.51
Thalamus5.26 ± 0.5
White Matter2.97 ± 0.55
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cpne7CBCerebellum1.3
1.91
Cpne7CTXCerebral cortex53.19
52.8
Cpne7HIPHippocampal region90.1
100
Cpne7HPFHippocampal formation96.39
100
Cpne7HYHypothalamus63.73
63.43
Cpne7LSXLateral septal complex100
100
Cpne7MBMidbrain24.7
30.37
Cpne7MYMedulla5.23
5.35
Cpne7OLFOlfactory bulb98.68
100
Cpne7PPons10.3
11.93
Cpne7PALPallidum52.37
59.37
Cpne7RHPRetrohippocampal region100
100
Cpne7sAMYStriatum-like amygdalar nuclei100
100
Cpne7STRStriatum38.26
45.12
Cpne7STRdStriatum dorsal region12.4
15.61
Cpne7STRvStriatum ventral region29.95
31.44
Cpne7THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00412132 9 576 584 DIVQFVPFR 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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