AutismKB 2.0

Annotation Detail for MYBPC1


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Basic Information Top
Gene Symbol:MYBPC1 ( MYBPCC,MYBPCS,slow-type )
Gene Full Name: myosin binding protein C, slow type
Band: 12q23.2
Quick LinksEntrez ID:4604; OMIM: 160794; Uniprot ID:MYPC1_HUMAN; ENSEMBL ID: ENSG00000196091; HGNC ID: 7549
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
blastocyst1 / 6231916
fetus117 / 564012207
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult231 / 1939121119
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor4 / 26384515
glioma3 / 10688328
head and neck tumor18 / 136302132
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia8 / 9725082
normal453 / 3360307134
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor9 / 12519171
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 
ascites1 / 4001524
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain77 / 110098969
cervix0 / 481710 
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye6 / 21105428
heart25 / 89626278
intestine0 / 2344720 
kidney1 / 2117774
larynx6 / 24145248
liver91 / 207743438
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth47 / 67052700
muscle232 / 1077152153
nerve7 / 15768443
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx8 / 41328193
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate17 / 18934589
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis13 / 33044239
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea9 / 52413171
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214087_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.85
Adipocyte7.15
AdrenalCortex8.55
Adrenalgland6.5
Amygdala28.65
Appendix8.15
AtrioventricularNode8.65
BDCA4+_DentriticCells7.15
Bonemarrow12.2
BronchialEpithelialCells6.75
CD105+_Endothelial6.55
CD14+_Monocytes7.55
CD19+_BCells(neg._sel.)7
CD33+_Myeloid9
CD34+7.7
CD4+_Tcells7.25
CD56+_NKCells8.4
CD71+_EarlyErythroid7
CD8+_Tcells6.35
CardiacMyocytes10.55
Caudatenucleus16.7
Cerebellum7.7
CerebellumPeduncles13.2
CiliaryGanglion6.05
CingulateCortex37.95
Colorectaladenocarcinoma7.35
DorsalRootGanglion7.55
FetalThyroid54.5
Fetalbrain6.55
Fetalliver6.5
Fetallung5.45
GlobusPallidus11.3
Heart19.8
Hypothalamus94.7
Kidney6.5
Leukemia_chronicMyelogenousK-5626.35
Leukemia_promyelocytic-HL-606.8
Leukemialymphoblastic(MOLT-4)5.9
Liver10.9
Lung7.75
Lymphnode5.8
Lymphoma_burkitts(Daudi)9.5
Lymphoma_burkitts(Raji)11.1
MedullaOblongata7.95
OccipitalLobe34.3
OlfactoryBulb30.45
Ovary6.6
Pancreas5.95
PancreaticIslet8.05
ParietalLobe35.35
Pituitary8.2
Placenta6.95
Pons10
PrefrontalCortex129.4
Prostate71.55
Salivarygland46.7
SkeletalMuscle5620.45
Skin6.45
SmoothMuscle8.15
Spinalcord112.95
SubthalamicNucleus16.65
SuperiorCervicalGanglion9.7
TemporalLobe12.05
Testis45.6
TestisGermCell5.55
TestisIntersitial6.4
TestisLeydigCell7.7
TestisSeminiferousTubule12.3
Thalamus87.55
Thymus5.65
Thyroid419.85
Tongue1733.2
Tonsil7.5
Trachea6.7
TrigeminalGanglion8.15
Uterus5.6
UterusCorpus7.15
WholeBlood7.15
Wholebrain39.75
colon7.5
pineal_day13.04
pineal_night8.64
retina32.875
small_intestine6.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P128362
  • 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
Amygdala6.87 ± 0.77
Basal Forebrain7.69 ± 0.44
Basal Part of Pons5.96 ± 0.51
Cerebellar Cortex6.15 ± 0.51
Cerebellar Nuclei7.44 ± 0.71
Claustrum6.52 ± 0.54
Epithalamus7.76 ± 0.32
Frontal Lobe6.92 ± 0.63
Globus Pallidus9.56 ± 0.94
Hypothalamus7.45 ± 0.46
Insula6.7 ± 0.54
Limbic Lobe6.69 ± 0.97
Mesencephalon7.46 ± 0.81
Myelencephalon7.11 ± 0.75
Occipital Lobe6.53 ± 0.65
Parietal Lobe7.15 ± 0.71
Pontine Tegmentum7.34 ± 0.44
Striatum6.99 ± 0.82
Subthalamus7.35 ± 0.4
Temporal Lobe6.97 ± 0.52
Thalamus7.57 ± 0.4
White Matter6.88 ± 0.3
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
8030451F13RikCBCerebellum21.84
61.68
8030451F13RikCTXCerebral cortex10.51
9.95
8030451F13RikHIPHippocampal region1.93
2.24
8030451F13RikHPFHippocampal formation6.25
7.69
8030451F13RikHYHypothalamus0.23
0.22
8030451F13RikLSXLateral septal complex0.22
0.62
8030451F13RikMBMidbrain1.33
1.62
8030451F13RikMYMedulla2.26
4.01
8030451F13RikOLFOlfactory bulb6.85
7.06
8030451F13RikPPons0.73
0.82
8030451F13RikPALPallidum0.47
0.54
8030451F13RikRHPRetrohippocampal region12.93
14.5
8030451F13RiksAMYStriatum-like amygdalar nuclei0.76
0.88
8030451F13RikSTRStriatum0.67
0.82
8030451F13RikSTRdStriatum dorsal region0.46
0.48
8030451F13RikSTRvStriatum ventral region1.5
1.76
8030451F13RikTHThalamus0.57
0.68
Peptide Top

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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