AutismKB 2.0

Annotation Detail for MYO1A


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Basic Information Top
Gene Symbol:MYO1A ( BBMI,DFNA48,MIHC,MYHL )
Gene Full Name: myosin IA
Band: 12q13.3
Quick LinksEntrez ID:4640; OMIM: 601478; Uniprot ID:MYO1A_HUMAN; ENSEMBL ID: ENSG00000166866; HGNC ID: 7595
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 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult23 / 193912111
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 tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
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-neoplasia0 / 972500 
normal26 / 33603077
ovarian tumor2 / 7668226
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 tissue0 / 131060 
adrenal gland0 / 331970 
ascites3 / 4001574
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain2 / 11009891
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine28 / 234472119
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle3 / 10771527
nerve0 / 157680 
ovary2 / 10205119
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach7 / 9661972
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211916_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.8
Adipocyte6.85
AdrenalCortex7.4
Adrenalgland5.75
Amygdala7.35
Appendix7.2
AtrioventricularNode6.15
BDCA4+_DentriticCells7.25
Bonemarrow6.7
BronchialEpithelialCells6.85
CD105+_Endothelial5.4
CD14+_Monocytes7.2
CD19+_BCells(neg._sel.)6.45
CD33+_Myeloid8.9
CD34+7.25
CD4+_Tcells6.25
CD56+_NKCells7.55
CD71+_EarlyErythroid5.85
CD8+_Tcells4.85
CardiacMyocytes9.35
Caudatenucleus6.2
Cerebellum5.6
CerebellumPeduncles10.55
CiliaryGanglion4.85
CingulateCortex7
Colorectaladenocarcinoma6.9
DorsalRootGanglion5.85
FetalThyroid6.75
Fetalbrain6.95
Fetalliver6.05
Fetallung5.85
GlobusPallidus5.05
Heart12.5
Hypothalamus7.6
Kidney5.6
Leukemia_chronicMyelogenousK-5626.25
Leukemia_promyelocytic-HL-607.1
Leukemialymphoblastic(MOLT-4)5.6
Liver14.65
Lung7.65
Lymphnode6
Lymphoma_burkitts(Daudi)8.8
Lymphoma_burkitts(Raji)9.55
MedullaOblongata6.35
OccipitalLobe6.35
OlfactoryBulb5.45
Ovary4.5
Pancreas5.5
PancreaticIslet7.4
ParietalLobe12.25
Pituitary8.05
Placenta7.25
Pons7.4
PrefrontalCortex8.75
Prostate8.2
Salivarygland5.45
SkeletalMuscle7.75
Skin5.2
SmoothMuscle7.85
Spinalcord8.05
SubthalamicNucleus6.25
SuperiorCervicalGanglion7.65
TemporalLobe8.9
Testis6.95
TestisGermCell5.9
TestisIntersitial5.75
TestisLeydigCell6.75
TestisSeminiferousTubule5.8
Thalamus7
Thymus5.55
Thyroid8.8
Tongue6.7
Tonsil6.7
Trachea5.8
TrigeminalGanglion7.05
Uterus5.7
UterusCorpus6.1
WholeBlood7.7
Wholebrain6
colon48.5
pineal_day7.42
pineal_night7.2
retina8.7
small_intestine315.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7591_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
Amygdala2.14 ± 1.05
Basal Forebrain1.8 ± 0.83
Basal Part of Pons1.34 ± 0.57
Cerebellar Cortex1.36 ± 0.66
Cerebellar Nuclei1.78 ± 0.74
Claustrum2.25 ± 0.77
Epithalamus1.18 ± 0.66
Frontal Lobe1.36 ± 0.58
Globus Pallidus2.06 ± 0.37
Hypothalamus1.58 ± 0.64
Insula1.41 ± 0.53
Limbic Lobe1.54 ± 0.64
Mesencephalon1.64 ± 0.64
Myelencephalon1.56 ± 0.67
Occipital Lobe1.54 ± 0.51
Parietal Lobe1.58 ± 0.87
Pontine Tegmentum1.56 ± 0.66
Striatum1.71 ± 0.63
Subthalamus1.57 ± 0.57
Temporal Lobe1.44 ± 0.68
Thalamus1.48 ± 0.55
White Matter2.13 ± 0.42
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Myo1aCBCerebellum2.16
3.81
Myo1aCTXCerebral cortex0.99
1.11
Myo1aHIPHippocampal region1.09
1.36
Myo1aHPFHippocampal formation0.88
1.05
Myo1aHYHypothalamus0.66
0.54
Myo1aLSXLateral septal complex2.72
2.69
Myo1aMBMidbrain0.74
1.21
Myo1aMYMedulla4.64
6.33
Myo1aOLFOlfactory bulb1.63
2.55
Myo1aPPons1.68
1.97
Myo1aPALPallidum1.75
1.54
Myo1aRHPRetrohippocampal region0.54
0.65
Myo1asAMYStriatum-like amygdalar nuclei0.39
0.52
Myo1aSTRStriatum0.76
0.78
Myo1aSTRdStriatum dorsal region0.65
0.72
Myo1aSTRvStriatum ventral region0.71
0.57
Myo1aTHThalamus1.2
1.36
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001187 17 812 828 CLSTANQELQQLFYQWK 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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