AutismKB 2.0

Annotation Detail for MYOC


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Basic Information Top
Gene Symbol:MYOC ( GLC1A,GPOA,JOAG,JOAG1,TIGR,myocilin )
Gene Full Name: myocilin, trabecular meshwork inducible glucocorticoid response
Band: 1q24.3
Quick LinksEntrez ID:4653; OMIM: 601652; Uniprot ID:MYOC_HUMAN; ENSEMBL ID: ENSG00000034971; HGNC ID: 7610
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 
fetus6 / 56401210
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult72 / 193912137
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 tumor2 / 11936916
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal129 / 336030738
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
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 tissue2 / 13106152
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain4 / 11009893
cervix1 / 4817120
connective tissue0 / 1492550 
ear2 / 16212123
embryonic tissue0 / 2157220 
esophagus7 / 20209346
eye65 / 211054307
heart7 / 8962678
intestine22 / 23447293
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate5 / 18934526
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach20 / 96619206
testis3 / 3304429
thymus15 / 81131184
thyroid1 / 4747321
tonsil0 / 169990 
trachea18 / 52413343
umbilical cord0 / 136800 
uterus4 / 23287817
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210155_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.35
Adipocyte6.85
AdrenalCortex7.7
Adrenalgland6
Amygdala7.4
Appendix7.55
AtrioventricularNode5.1
BDCA4+_DentriticCells6.65
Bonemarrow6.75
BronchialEpithelialCells6.9
CD105+_Endothelial6.6
CD14+_Monocytes7.05
CD19+_BCells(neg._sel.)6.9
CD33+_Myeloid8.2
CD34+7.95
CD4+_Tcells7.3
CD56+_NKCells7.5
CD71+_EarlyErythroid6.35
CD8+_Tcells6.4
CardiacMyocytes9.8
Caudatenucleus6.1
Cerebellum5.6
CerebellumPeduncles7.8
CiliaryGanglion5.5
CingulateCortex7.3
Colorectaladenocarcinoma7
DorsalRootGanglion5.3
FetalThyroid8.05
Fetalbrain7
Fetalliver6.05
Fetallung6.05
GlobusPallidus5.05
Heart14.5
Hypothalamus6.95
Kidney5.7
Leukemia_chronicMyelogenousK-5626.3
Leukemia_promyelocytic-HL-606.1
Leukemialymphoblastic(MOLT-4)5.6
Liver10.2
Lung7.85
Lymphnode6.05
Lymphoma_burkitts(Daudi)8.75
Lymphoma_burkitts(Raji)10.6
MedullaOblongata6.4
OccipitalLobe6.25
OlfactoryBulb5.3
Ovary5.6
Pancreas5.6
PancreaticIslet7.35
ParietalLobe7.25
Pituitary8.1
Placenta7
Pons6.55
PrefrontalCortex8.6
Prostate8.05
Salivarygland5.75
SkeletalMuscle9.1
Skin5.35
SmoothMuscle7.9
Spinalcord7.45
SubthalamicNucleus6.2
SuperiorCervicalGanglion8.15
TemporalLobe6.3
Testis8.55
TestisGermCell5.9
TestisIntersitial5.8
TestisLeydigCell6.85
TestisSeminiferousTubule6
Thalamus6.95
Thymus20.75
Thyroid28.75
Tongue85.1
Tonsil6.75
Trachea45.25
TrigeminalGanglion7.25
Uterus5.75
UterusCorpus6.85
WholeBlood8
Wholebrain5.5
colon7
pineal_day180.5
pineal_night273.14
retina455.05
small_intestine6.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16391_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
Amygdala2.4 ± 1.06
Basal Forebrain1.96 ± 0.26
Basal Part of Pons1.58 ± 0.43
Cerebellar Cortex1.93 ± 0.96
Cerebellar Nuclei2.28 ± 0.74
Claustrum3.07 ± 0.97
Epithalamus1.71 ± 0.9
Frontal Lobe1.79 ± 0.69
Globus Pallidus2.57 ± 0.33
Hypothalamus2 ± 0.69
Insula1.98 ± 0.74
Limbic Lobe1.98 ± 0.71
Mesencephalon2.09 ± 0.66
Myelencephalon2.05 ± 0.77
Occipital Lobe2 ± 0.66
Parietal Lobe2.02 ± 0.86
Pontine Tegmentum2.05 ± 0.82
Striatum2.1 ± 0.53
Subthalamus2.07 ± 0.68
Temporal Lobe1.89 ± 0.81
Thalamus1.99 ± 0.68
White Matter3.12 ± 1.2
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
MyocCBCerebellum5.9
11.99
MyocCTXCerebral cortex8.08
7.2
MyocHIPHippocampal region5.95
14.82
MyocHPFHippocampal formation6.07
16.76
MyocHYHypothalamus2.48
1.71
MyocLSXLateral septal complex1.9
1.57
MyocMBMidbrain6.23
13.61
MyocMYMedulla11.78
15.61
MyocOLFOlfactory bulb17.96
15.73
MyocPPons9.47
19.11
MyocPALPallidum5.76
5.35
MyocRHPRetrohippocampal region6.03
18.3
MyocsAMYStriatum-like amygdalar nuclei2.7
3.68
MyocSTRStriatum4.2
3.45
MyocSTRdStriatum dorsal region3.5
2.9
MyocSTRvStriatum ventral region8.31
5.8
MyocTHThalamus5.67
9.96
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