AutismKB 2.0

Annotation Detail for MYBPC3


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Basic Information Top
Gene Symbol:MYBPC3 ( CMH4,DKFZp779E1762,FHC,MYBP-C )
Gene Full Name: myosin binding protein C, cardiac
Band: 11p11.2
Quick LinksEntrez ID:4607; OMIM: 600958; Uniprot ID:MYPC3_HUMAN; ENSEMBL ID: ENSG00000134571; HGNC ID: 7551
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
fetus27 / 56401247
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult21 / 193912110
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 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 
normal55 / 336030716
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
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 
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye0 / 2110540 
heart53 / 89626591
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver5 / 20774324
lung6 / 33697417
lymph0 / 442700 
lymph node1 / 9161010
mammary gland0 / 1532710 
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
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: 208040_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.6
Adipocyte3.8
AdrenalCortex4.55
Adrenalgland3.45
Amygdala4.1
Appendix3.85
AtrioventricularNode3
BDCA4+_DentriticCells4.25
Bonemarrow3.8
BronchialEpithelialCells3.8
CD105+_Endothelial3.75
CD14+_Monocytes3.95
CD19+_BCells(neg._sel.)3.9
CD33+_Myeloid4.7
CD34+4.8
CD4+_Tcells4.2
CD56+_NKCells4.3
CD71+_EarlyErythroid3.6
CD8+_Tcells3.7
CardiacMyocytes6.75
Caudatenucleus3.8
Cerebellum3.1
CerebellumPeduncles4.5
CiliaryGanglion3
CingulateCortex4.1
Colorectaladenocarcinoma3.9
DorsalRootGanglion2.7
FetalThyroid3.75
Fetalbrain3.8
Fetalliver7.3
Fetallung3.15
GlobusPallidus3.35
Heart950.05
Hypothalamus4.25
Kidney5.8
Leukemia_chronicMyelogenousK-5624.05
Leukemia_promyelocytic-HL-603.4
Leukemialymphoblastic(MOLT-4)3.1
Liver5.25
Lung4.25
Lymphnode3.3
Lymphoma_burkitts(Daudi)5.45
Lymphoma_burkitts(Raji)5.4
MedullaOblongata3.55
OccipitalLobe3.45
OlfactoryBulb3.05
Ovary2.55
Pancreas3.05
PancreaticIslet4.1
ParietalLobe4.2
Pituitary7.05
Placenta4
Pons3.7
PrefrontalCortex4.65
Prostate5.75
Salivarygland5.25
SkeletalMuscle4.35
Skin2.85
SmoothMuscle4.35
Spinalcord4.25
SubthalamicNucleus3.45
SuperiorCervicalGanglion4.6
TemporalLobe4.2
Testis4.2
TestisGermCell3.25
TestisIntersitial3.25
TestisLeydigCell3.8
TestisSeminiferousTubule5.85
Thalamus5.25
Thymus3
Thyroid4.85
Tongue3.8
Tonsil3.8
Trachea4.15
TrigeminalGanglion3.75
Uterus3.3
UterusCorpus3.75
WholeBlood4.2
Wholebrain3.35
colon4.15
pineal_day4.7
pineal_night4.54
retina4.675
small_intestine3.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16004_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
Amygdala4.79 ± 0.69
Basal Forebrain4.68 ± 0.21
Basal Part of Pons4.6 ± 0.57
Cerebellar Cortex4.3 ± 0.61
Cerebellar Nuclei4.73 ± 0.6
Claustrum4.84 ± 0.63
Epithalamus4.22 ± 0.61
Frontal Lobe4.47 ± 0.58
Globus Pallidus5.07 ± 0.55
Hypothalamus4.33 ± 0.52
Insula4.39 ± 0.49
Limbic Lobe4.67 ± 0.57
Mesencephalon4.59 ± 0.47
Myelencephalon4.61 ± 0.57
Occipital Lobe4.57 ± 0.53
Parietal Lobe4.57 ± 0.62
Pontine Tegmentum4.44 ± 0.54
Striatum4.68 ± 0.56
Subthalamus4.26 ± 0.74
Temporal Lobe4.5 ± 0.58
Thalamus4.55 ± 0.51
White Matter4.45 ± 0.67
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp01364267 9 566 574 CEVSDENVR 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