AutismKB 2.0

Annotation Detail for MYL2


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Basic Information Top
Gene Symbol:MYL2 ( CMH10,DKFZp779C0562,MLC2 )
Gene Full Name: myosin, light chain 2, regulatory, cardiac, slow
Band: 12q24.11
Quick LinksEntrez ID:4633; OMIM: 160781; Uniprot ID:MLRV_HUMAN; ENSEMBL ID: ENSG00000111245; HGNC ID: 7583
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 
fetus75 / 564012132
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult271 / 1939121139
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor9 / 13630266
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal368 / 3360307109
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor7 / 12519155
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 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye1 / 2110544
heart322 / 896263592
intestine0 / 2344720 
kidney1 / 2117774
larynx17 / 24145704
liver27 / 207743129
lung13 / 33697438
lymph0 / 442700 
lymph node1 / 9161010
mammary gland1 / 1532716
mouth3 / 6705244
muscle214 / 1077151986
nerve1 / 1576863
ovary1 / 1020519
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate16 / 18934584
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209742_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.2
Adipocyte3.3
AdrenalCortex3.55
Adrenalgland2.8
Amygdala3.55
Appendix3.85
AtrioventricularNode2.65
BDCA4+_DentriticCells3.75
Bonemarrow3.25
BronchialEpithelialCells3.3
CD105+_Endothelial3.4
CD14+_Monocytes3.6
CD19+_BCells(neg._sel.)3.6
CD33+_Myeloid4.7
CD34+4.25
CD4+_Tcells3.65
CD56+_NKCells4.05
CD71+_EarlyErythroid3.15
CD8+_Tcells3.25
CardiacMyocytes4.2
Caudatenucleus2.95
Cerebellum2.7
CerebellumPeduncles3.75
CiliaryGanglion2.5
CingulateCortex3.4
Colorectaladenocarcinoma3.35
DorsalRootGanglion2.75
FetalThyroid242.35
Fetalbrain3.35
Fetalliver2.85
Fetallung2.8
GlobusPallidus2.4
Heart20378.85
Hypothalamus3.65
Kidney2.75
Leukemia_chronicMyelogenousK-5623.05
Leukemia_promyelocytic-HL-602.95
Leukemialymphoblastic(MOLT-4)2.7
Liver4.6
Lung3.7
Lymphnode2.9
Lymphoma_burkitts(Daudi)4.3
Lymphoma_burkitts(Raji)4.65
MedullaOblongata3.05
OccipitalLobe3
OlfactoryBulb2.65
Ovary2.25
Pancreas2.65
PancreaticIslet3.55
ParietalLobe3.6
Pituitary3.9
Placenta3.5
Pons3.15
PrefrontalCortex4.15
Prostate127.25
Salivarygland2.7
SkeletalMuscle13533.95
Skin2.75
SmoothMuscle3.8
Spinalcord3.55
SubthalamicNucleus3.05
SuperiorCervicalGanglion4
TemporalLobe3.05
Testis399.95
TestisGermCell2.8
TestisIntersitial2.8
TestisLeydigCell3.3
TestisSeminiferousTubule2.9
Thalamus3.35
Thymus2.65
Thyroid1244
Tongue1461.6
Tonsil3.25
Trachea4.45
TrigeminalGanglion3.4
Uterus2.75
UterusCorpus2.95
WholeBlood3.65
Wholebrain2.85
colon4.7
pineal_day4.18
pineal_night4.1
retina4.05
small_intestine16
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15766_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
Amygdala2.27 ± 1.16
Basal Forebrain1.69 ± 0.25
Basal Part of Pons1.34 ± 0.51
Cerebellar Cortex1.61 ± 0.84
Cerebellar Nuclei2.1 ± 0.86
Claustrum2.73 ± 1.03
Epithalamus1.7 ± 0.72
Frontal Lobe1.66 ± 0.94
Globus Pallidus2.41 ± 0.36
Hypothalamus1.82 ± 0.76
Insula1.65 ± 0.74
Limbic Lobe1.83 ± 0.75
Mesencephalon1.97 ± 0.86
Myelencephalon1.81 ± 0.82
Occipital Lobe2.05 ± 0.76
Parietal Lobe1.84 ± 1
Pontine Tegmentum2.1 ± 1.05
Striatum1.98 ± 0.84
Subthalamus1.89 ± 0.8
Temporal Lobe1.76 ± 0.94
Thalamus1.87 ± 0.94
White Matter2.07 ± 0.18
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Myl2CBCerebellum0.4
0.83
Myl2CTXCerebral cortex0.45
0.9
Myl2HIPHippocampal region0.07
0.16
Myl2HPFHippocampal formation0.12
0.26
Myl2HYHypothalamus0.07
0.08
Myl2LSXLateral septal complex0.03
0
Myl2MBMidbrain0.14
0.36
Myl2MYMedulla0.08
0.11
Myl2OLFOlfactory bulb0.06
0.06
Myl2PPons0.12
0.26
Myl2PALPallidum0.05
0.15
Myl2RHPRetrohippocampal region0.19
0.38
Myl2sAMYStriatum-like amygdalar nuclei0.12
0.27
Myl2STRStriatum0.06
0.1
Myl2STRdStriatum dorsal region0.04
0.06
Myl2STRvStriatum ventral region0.06
0.13
Myl2THThalamus0.13
0.15
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
MLRV_HUMAN_105 7 105 111 VFDPEGK PRIDE
MLRV_HUMAN_154 12 154 165 NLVHIITHGEEK PRIDE
MLRV_HUMAN_154 13 154 166 NLVHIITHGEEKD PRIDE
MLRV_HUMAN_90 15 90 104 LKGADPEETILNAFK PRIDE
MLRV_HUMAN_92 13 92 104 GADPEETILNAFK PRIDE

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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