AutismKB 2.0

Annotation Detail for MYO5A


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Basic Information Top
Gene Symbol:MYO5A ( GS1,MYH12,MYO5,MYR12 )
Gene Full Name: myosin VA (heavy chain 12, myoxin)
Band: 15q21.2
Quick LinksEntrez ID:4644; OMIM: 160777; Uniprot ID:MYO5A_HUMAN; ENSEMBL ID: ENSG00000197535; HGNC ID: 7602
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 body1 / 7076114
blastocyst3 / 6231948
fetus50 / 56401288
neonate0 / 310970 
infant1 / 2362042
juvenile5 / 5555689
adult98 / 193912150
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor7 / 9417874
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor10 / 26384537
glioma3 / 10688328
head and neck tumor10 / 13630273
kidney tumor1 / 6895914
leukemia5 / 9584252
liver tumor2 / 9635920
lung tumor3 / 10312729
lymphoma3 / 7175541
non-neoplasia4 / 9725041
normal240 / 336030771
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer3 / 10268029
retinoblastoma2 / 4635643
skin tumor9 / 12494972
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder1 / 2975733
blood4 / 12347832
bone1 / 7165513
bone marrow1 / 4880120
brain143 / 1100989129
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye15 / 21105471
heart2 / 8962622
intestine8 / 23447234
kidney5 / 21177723
larynx0 / 241450 
liver4 / 20774319
lung9 / 33697426
lymph0 / 442700 
lymph node7 / 9161076
mammary gland12 / 15327178
mouth3 / 6705244
muscle6 / 10771555
nerve4 / 15768253
ovary0 / 1020510 
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate5 / 18934526
salivary gland1 / 2015549
skin24 / 210574113
spleen2 / 5395237
stomach2 / 9661920
testis4 / 33044212
thymus2 / 8113124
thyroid4 / 4747384
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204527_at
Cell line Expression level Expression bar
721_B_lymphoblasts87.85
Adipocyte7.3
AdrenalCortex9
Adrenalgland6.6
Amygdala12.3
Appendix10.5
AtrioventricularNode7.55
BDCA4+_DentriticCells48.6
Bonemarrow10.85
BronchialEpithelialCells39.85
CD105+_Endothelial7.35
CD14+_Monocytes29.45
CD19+_BCells(neg._sel.)11.45
CD33+_Myeloid74.8
CD34+9.35
CD4+_Tcells7.95
CD56+_NKCells25.75
CD71+_EarlyErythroid7.05
CD8+_Tcells9.55
CardiacMyocytes11.8
Caudatenucleus11.45
Cerebellum7.2
CerebellumPeduncles9.1
CiliaryGanglion7.05
CingulateCortex8
Colorectaladenocarcinoma7.3
DorsalRootGanglion6.9
FetalThyroid7.2
Fetalbrain8.25
Fetalliver6.7
Fetallung5.6
GlobusPallidus5.85
Heart11.35
Hypothalamus11.35
Kidney6.6
Leukemia_chronicMyelogenousK-5626.45
Leukemia_promyelocytic-HL-606.45
Leukemialymphoblastic(MOLT-4)5.85
Liver10.85
Lung8
Lymphnode6.7
Lymphoma_burkitts(Daudi)10.1
Lymphoma_burkitts(Raji)11.35
MedullaOblongata7.05
OccipitalLobe6.8
OlfactoryBulb5.75
Ovary5.45
Pancreas6
PancreaticIslet8.25
ParietalLobe8.45
Pituitary9.3
Placenta7.25
Pons22.05
PrefrontalCortex10.35
Prostate8.55
Salivarygland8.7
SkeletalMuscle11.7
Skin7.1
SmoothMuscle11.7
Spinalcord8.05
SubthalamicNucleus7.8
SuperiorCervicalGanglion51.2
TemporalLobe7.3
Testis6.35
TestisGermCell5.95
TestisIntersitial7.95
TestisLeydigCell7.65
TestisSeminiferousTubule6.35
Thalamus7.75
Thymus5.5
Thyroid8.8
Tongue8.1
Tonsil7.55
Trachea6.15
TrigeminalGanglion10.25
Uterus5.75
UterusCorpus7.7
WholeBlood27.35
Wholebrain13.6
colon7.4
pineal_day31.88
pineal_night46.28
retina9
small_intestine7.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P117654
  • 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
Amygdala8.15 ± 0.34
Basal Forebrain8 ± 0.13
Basal Part of Pons8.79 ± 0.11
Cerebellar Cortex8.07 ± 0.18
Cerebellar Nuclei8.11 ± 0.41
Claustrum8.71 ± 0.18
Epithalamus7.42 ± 0.66
Frontal Lobe8.4 ± 0.38
Globus Pallidus7.31 ± 0.41
Hypothalamus8.04 ± 0.25
Insula8.36 ± 0.29
Limbic Lobe8.35 ± 0.39
Mesencephalon8.19 ± 0.5
Myelencephalon8.2 ± 0.47
Occipital Lobe8.37 ± 0.32
Parietal Lobe8.47 ± 0.33
Pontine Tegmentum8.15 ± 0.29
Striatum7.91 ± 0.48
Subthalamus8.41 ± 0.3
Temporal Lobe8.31 ± 0.3
Thalamus8.38 ± 0.35
White Matter7.05 ± 0.41
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Myo5aCBCerebellum56.92
100
Myo5aCTXCerebral cortex100
100
Myo5aHIPHippocampal region90.34
100
Myo5aHPFHippocampal formation100
100
Myo5aHYHypothalamus65.65
70.84
Myo5aLSXLateral septal complex40.54
37.28
Myo5aMBMidbrain81.06
93.01
Myo5aMYMedulla77.99
100
Myo5aOLFOlfactory bulb100
100
Myo5aPPons62.61
88.88
Myo5aPALPallidum81.04
100
Myo5aRHPRetrohippocampal region100
100
Myo5asAMYStriatum-like amygdalar nuclei95.97
98.38
Myo5aSTRStriatum100
100
Myo5aSTRdStriatum dorsal region100
100
Myo5aSTRvStriatum ventral region100
100
Myo5aTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00035712 15 503 517 LGILDLLDEECKMPK 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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