AutismKB 2.0

Annotation Detail for MYO18A


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Basic Information Top
Gene Symbol:MYO18A ( DKFZp686L0243,KIAA0216,MYSPDZ,SPR210 )
Gene Full Name: myosin XVIIIA
Band: 17q11.2
Quick LinksEntrez ID:399687; OMIM: 610067; Uniprot ID:MY18A_HUMAN; ENSEMBL ID: ENSG00000196535; HGNC ID: 31104
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 body4 / 7076156
blastocyst2 / 6231932
fetus16 / 56401228
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult91 / 193912146
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor9 / 11424678
esophageal tumor1 / 1729057
gastrointestinal tumor5 / 11936941
germ cell tumor20 / 26384575
glioma4 / 10688337
head and neck tumor10 / 13630273
kidney tumor1 / 6895914
leukemia23 / 95842239
liver tumor11 / 96359114
lung tumor2 / 10312719
lymphoma2 / 7175527
non-neoplasia6 / 9725061
normal104 / 336030730
ovarian tumor6 / 7668278
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites1 / 4001524
bladder2 / 2975767
blood11 / 12347889
bone0 / 716550 
bone marrow2 / 4880140
brain48 / 110098943
cervix4 / 4817183
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus1 / 2020949
eye4 / 21105418
heart4 / 8962644
intestine14 / 23447259
kidney7 / 21177733
larynx6 / 24145248
liver12 / 20774357
lung10 / 33697429
lymph1 / 4427022
lymph node13 / 91610141
mammary gland2 / 15327113
mouth1 / 6705214
muscle7 / 10771564
nerve1 / 1576863
ovary11 / 102051107
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta8 / 28082528
prostate7 / 18934536
salivary gland0 / 201550 
skin7 / 21057433
spleen3 / 5395255
stomach4 / 9661941
testis7 / 33044221
thymus5 / 8113161
thyroid5 / 47473105
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus7 / 23287830
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202039_at
Cell line Expression level Expression bar
721_B_lymphoblasts82.6
Adipocyte9
AdrenalCortex12.6
Adrenalgland6.6
Amygdala38.9
Appendix11.95
AtrioventricularNode4.95
BDCA4+_DentriticCells151.45
Bonemarrow20.5
BronchialEpithelialCells20.35
CD105+_Endothelial24.3
CD14+_Monocytes36.55
CD19+_BCells(neg._sel.)31.75
CD33+_Myeloid35.75
CD34+204.7
CD4+_Tcells58.7
CD56+_NKCells28.8
CD71+_EarlyErythroid49.05
CD8+_Tcells55.6
CardiacMyocytes16.15
Caudatenucleus42.1
Cerebellum39.7
CerebellumPeduncles31.85
CiliaryGanglion10.4
CingulateCortex36.75
Colorectaladenocarcinoma27.05
DorsalRootGanglion9.05
FetalThyroid14.45
Fetalbrain26.55
Fetalliver17.8
Fetallung16.9
GlobusPallidus12.95
Heart41.15
Hypothalamus61.3
Kidney15.95
Leukemia_chronicMyelogenousK-56224.1
Leukemia_promyelocytic-HL-6011.7
Leukemialymphoblastic(MOLT-4)51.45
Liver33.25
Lung26.05
Lymphnode18
Lymphoma_burkitts(Daudi)19.3
Lymphoma_burkitts(Raji)36.6
MedullaOblongata34.25
OccipitalLobe28.45
OlfactoryBulb28.3
Ovary9.15
Pancreas14.35
PancreaticIslet19.4
ParietalLobe41.5
Pituitary17.65
Placenta14.45
Pons19.8
PrefrontalCortex244.9
Prostate22.6
Salivarygland15.4
SkeletalMuscle53.65
Skin9.95
SmoothMuscle11.35
Spinalcord25.5
SubthalamicNucleus19.15
SuperiorCervicalGanglion14.2
TemporalLobe18.85
Testis22.25
TestisGermCell15.55
TestisIntersitial13.9
TestisLeydigCell20.3
TestisSeminiferousTubule17.55
Thalamus51.55
Thymus38.65
Thyroid25.5
Tongue34.7
Tonsil17.7
Trachea12.7
TrigeminalGanglion15.2
Uterus17.15
UterusCorpus18.5
WholeBlood35.95
Wholebrain40
colon21.2
pineal_day84.28
pineal_night51.16
retina62.375
small_intestine24.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9994_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
Amygdala5.1 ± 0.62
Basal Forebrain5.26 ± 0.74
Basal Part of Pons5.58 ± 0.59
Cerebellar Cortex4.75 ± 0.31
Cerebellar Nuclei5.02 ± 0.33
Claustrum5.96 ± 0.46
Epithalamus4.43 ± 0.51
Frontal Lobe4.73 ± 0.58
Globus Pallidus6.07 ± 0.4
Hypothalamus4.51 ± 0.74
Insula4.77 ± 0.58
Limbic Lobe4.88 ± 0.53
Mesencephalon4.99 ± 0.58
Myelencephalon4.93 ± 0.65
Occipital Lobe4.91 ± 0.46
Parietal Lobe5 ± 0.68
Pontine Tegmentum4.72 ± 0.54
Striatum4.89 ± 0.51
Subthalamus5.17 ± 0.4
Temporal Lobe4.93 ± 0.52
Thalamus4.92 ± 0.56
White Matter6.57 ± 0.72
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Myo18aCBCerebellum26.77
44.31
Myo18aCTXCerebral cortex100
100
Myo18aHIPHippocampal region38.55
60.81
Myo18aHPFHippocampal formation35.53
45.95
Myo18aHYHypothalamus20.58
17.29
Myo18aLSXLateral septal complex17.25
13.03
Myo18aMBMidbrain28.34
27.61
Myo18aMYMedulla41.39
49.08
Myo18aOLFOlfactory bulb59.01
53.7
Myo18aPPons31.46
34.85
Myo18aPALPallidum30.97
30.48
Myo18aRHPRetrohippocampal region29.18
23.14
Myo18asAMYStriatum-like amygdalar nuclei28.93
22.98
Myo18aSTRStriatum66.28
54.8
Myo18aSTRdStriatum dorsal region76.61
64.87
Myo18aSTRvStriatum ventral region73.35
56.18
Myo18aTHThalamus55.12
53.19
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
MY18A_HUMAN_1206 6 1206 1211 QHFKKR PRIDE
MY18A_HUMAN_1461 17 1461 1477 RFDSELSQAHEEAQREK PRIDE
PAp00006744 17 1388 1404 RLQQEFEDKLEVEQQNK 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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