AutismKB 2.0

Annotation Detail for MYOZ3


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Basic Information Top
Gene Symbol:MYOZ3 ( CS-3,CS3,FRP3 )
Gene Full Name: myozenin 3
Band: 5q33.1
Quick LinksEntrez ID:91977; OMIM: 610735; Uniprot ID:MYOZ3_HUMAN; ENSEMBL ID: ENSG00000164591; HGNC ID: 18565
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 
blastocyst0 / 623190 
fetus12 / 56401221
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult14 / 19391217
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 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor3 / 26384511
glioma4 / 10688337
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal35 / 336030710
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain13 / 110098911
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth3 / 6705244
muscle8 / 10771574
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate4 / 18934521
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis4 / 33044212
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213955_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.45
Adipocyte7.4
AdrenalCortex6.05
Adrenalgland4.85
Amygdala5.95
Appendix6.5
AtrioventricularNode4.45
BDCA4+_DentriticCells6.15
Bonemarrow5.6
BronchialEpithelialCells5.6
CD105+_Endothelial5.2
CD14+_Monocytes5.6
CD19+_BCells(neg._sel.)5.45
CD33+_Myeloid6.9
CD34+7.2
CD4+_Tcells6.1
CD56+_NKCells6.35
CD71+_EarlyErythroid5.3
CD8+_Tcells4.8
CardiacMyocytes7
Caudatenucleus5.1
Cerebellum4.6
CerebellumPeduncles6.45
CiliaryGanglion4.05
CingulateCortex5.85
Colorectaladenocarcinoma5.7
DorsalRootGanglion4.7
FetalThyroid5.5
Fetalbrain5.6
Fetalliver4.95
Fetallung4.65
GlobusPallidus4.25
Heart7.4
Hypothalamus7
Kidney4.7
Leukemia_chronicMyelogenousK-5625.15
Leukemia_promyelocytic-HL-605.05
Leukemialymphoblastic(MOLT-4)4.55
Liver7.6
Lung6.1
Lymphnode5.75
Lymphoma_burkitts(Daudi)7.25
Lymphoma_burkitts(Raji)8.05
MedullaOblongata6.4
OccipitalLobe5.15
OlfactoryBulb4.95
Ovary3.9
Pancreas4.6
PancreaticIslet6.05
ParietalLobe6.1
Pituitary9.3
Placenta5.8
Pons5.45
PrefrontalCortex7.05
Prostate6.85
Salivarygland4.6
SkeletalMuscle25.05
Skin4.4
SmoothMuscle6.2
Spinalcord6.1
SubthalamicNucleus5.2
SuperiorCervicalGanglion6.55
TemporalLobe5.25
Testis4.9
TestisGermCell5.35
TestisIntersitial4.85
TestisLeydigCell5.65
TestisSeminiferousTubule4.9
Thalamus5.8
Thymus4.45
Thyroid7.1
Tongue66.45
Tonsil5.55
Trachea5.2
TrigeminalGanglion11.2
Uterus4.6
UterusCorpus5.15
WholeBlood6.2
Wholebrain4.75
colon5.7
pineal_day6.52
pineal_night6.2
retina6.85
small_intestine5.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P385942
  • 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
Amygdala3.27 ± 0.74
Basal Forebrain3.04 ± 0.39
Basal Part of Pons2.64 ± 0.56
Cerebellar Cortex2.81 ± 0.5
Cerebellar Nuclei2.87 ± 0.35
Claustrum3.09 ± 0.74
Epithalamus2.61 ± 0.35
Frontal Lobe2.83 ± 0.62
Globus Pallidus2.93 ± 0.46
Hypothalamus2.45 ± 0.32
Insula2.93 ± 0.41
Limbic Lobe2.96 ± 0.62
Mesencephalon2.89 ± 0.61
Myelencephalon2.94 ± 0.61
Occipital Lobe3.03 ± 0.59
Parietal Lobe3.01 ± 0.54
Pontine Tegmentum3 ± 0.59
Striatum2.97 ± 0.59
Subthalamus2.94 ± 0.8
Temporal Lobe2.87 ± 0.58
Thalamus2.99 ± 0.54
White Matter3.09 ± 0.79
Mouse Brain ISH
Peptide Top

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