AutismKB 2.0

Annotation Detail for MYOM2


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Basic Information Top
Gene Symbol:MYOM2 ( TTNAP )
Gene Full Name: myomesin (M-protein) 2, 165kDa
Band: 8p23.3
Quick LinksEntrez ID:9172; OMIM: 603509; Uniprot ID:MYOM2_HUMAN; ENSEMBL ID: ENSG00000036448; HGNC ID: 7614
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
fetus19 / 56401233
neonate0 / 310970 
infant0 / 236200 
juvenile6 / 55556107
adult42 / 193912121
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
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal95 / 336030728
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
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 
blood2 / 12347816
bone0 / 716550 
bone marrow0 / 488010 
brain42 / 110098938
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye6 / 21105428
heart22 / 89626245
intestine1 / 2344724
kidney6 / 21177728
larynx1 / 2414541
liver4 / 20774319
lung4 / 33697411
lymph1 / 4427022
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle14 / 107715129
nerve1 / 1576863
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen2 / 5395237
stomach1 / 9661910
testis6 / 33044218
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: 205826_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.05
Adipocyte5
AdrenalCortex5.35
Adrenalgland4.25
Amygdala5.85
Appendix5.05
AtrioventricularNode3.8
BDCA4+_DentriticCells5.75
Bonemarrow5.05
BronchialEpithelialCells4.95
CD105+_Endothelial5.15
CD14+_Monocytes5.4
CD19+_BCells(neg._sel.)5.4
CD33+_Myeloid6.4
CD34+6.55
CD4+_Tcells5.4
CD56+_NKCells3912.8
CD71+_EarlyErythroid4.65
CD8+_Tcells4.85
CardiacMyocytes6.25
Caudatenucleus4.55
Cerebellum4.2
CerebellumPeduncles5.85
CiliaryGanglion3.65
CingulateCortex12.8
Colorectaladenocarcinoma5.05
DorsalRootGanglion3.85
FetalThyroid5.6
Fetalbrain5.05
Fetalliver4.3
Fetallung4.15
GlobusPallidus3.75
Heart502.1
Hypothalamus6.4
Kidney4.3
Leukemia_chronicMyelogenousK-5624.6
Leukemia_promyelocytic-HL-604.5
Leukemialymphoblastic(MOLT-4)4.8
Liver7.25
Lung5.5
Lymphnode4.35
Lymphoma_burkitts(Daudi)6.5
Lymphoma_burkitts(Raji)7.3
MedullaOblongata4.7
OccipitalLobe4.6
OlfactoryBulb4
Ovary3.3
Pancreas4.1
PancreaticIslet5.4
ParietalLobe5.45
Pituitary5.95
Placenta5
Pons4.8
PrefrontalCortex8.45
Prostate18
Salivarygland4
SkeletalMuscle516.1
Skin3.8
SmoothMuscle5.75
Spinalcord5.45
SubthalamicNucleus4.75
SuperiorCervicalGanglion5.85
TemporalLobe7.2
Testis19.95
TestisGermCell7.15
TestisIntersitial6.45
TestisLeydigCell5
TestisSeminiferousTubule4.75
Thalamus5.15
Thymus4
Thyroid6.65
Tongue57.05
Tonsil4.95
Trachea4.2
TrigeminalGanglion5.15
Uterus4.15
UterusCorpus5.85
WholeBlood5.55
Wholebrain12.6
colon5.15
pineal_day12.36
pineal_night10.42
retina6.1
small_intestine4.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12829_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
Amygdala3.55 ± 0.97
Basal Forebrain3.11 ± 0.36
Basal Part of Pons3.11 ± 0.49
Cerebellar Cortex3.14 ± 0.72
Cerebellar Nuclei3.36 ± 0.62
Claustrum4.43 ± 0.63
Epithalamus3.22 ± 0.58
Frontal Lobe3.71 ± 0.65
Globus Pallidus2.68 ± 0.84
Hypothalamus3.41 ± 0.62
Insula3.74 ± 0.51
Limbic Lobe3.17 ± 0.75
Mesencephalon3.49 ± 0.75
Myelencephalon3.3 ± 0.69
Occipital Lobe2.69 ± 0.77
Parietal Lobe3.39 ± 0.74
Pontine Tegmentum3.5 ± 0.79
Striatum2.67 ± 0.85
Subthalamus3.42 ± 0.76
Temporal Lobe3.55 ± 0.63
Thalamus3.18 ± 0.68
White Matter2.28 ± 0.16
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Myom2CBCerebellum1.38
2.09
Myom2CTXCerebral cortex0.97
0.76
Myom2HIPHippocampal region0.2
0.23
Myom2HPFHippocampal formation0.22
0.3
Myom2HYHypothalamus0.13
0.12
Myom2LSXLateral septal complex0.43
0.47
Myom2MBMidbrain0.9
1.1
Myom2MYMedulla3.25
3.76
Myom2OLFOlfactory bulb1.33
2.36
Myom2PPons1.29
1.71
Myom2PALPallidum0.37
0.4
Myom2RHPRetrohippocampal region0.25
0.39
Myom2sAMYStriatum-like amygdalar nuclei0.03
0
Myom2STRStriatum0.45
0.43
Myom2STRdStriatum dorsal region0.27
0.25
Myom2STRvStriatum ventral region1.46
1.22
Myom2THThalamus0.51
0.53
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