AutismKB 2.0

Annotation Detail for MYBPHL


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Basic Information Top
Gene Symbol:MYBPHL ( - )
Gene Full Name: myosin binding protein H-like
Band: 1p13.3
Quick LinksEntrez ID:343263; OMIM: NA; Uniprot ID:MBPHL_HUMAN; ENSEMBL ID: ENSG00000221986; HGNC ID: 30434
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 
fetus2 / 5640123
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult4 / 19391212
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 tumor1 / 1193698
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 
normal5 / 33603071
ovarian tumor3 / 7668239
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
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 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain1 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye4 / 21105418
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary3 / 10205129
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach1 / 9661910
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_644_PI416573500
  • 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
Amygdala4.09 ± 0.87
Basal Forebrain3.27 ± 0.37
Basal Part of Pons3.46 ± 0.5
Cerebellar Cortex3.37 ± 0.59
Cerebellar Nuclei3.75 ± 0.6
Claustrum3.45 ± 0.76
Epithalamus3.53 ± 0.59
Frontal Lobe3.87 ± 0.72
Globus Pallidus3.55 ± 1.21
Hypothalamus3.9 ± 1.27
Insula4.09 ± 0.71
Limbic Lobe4.26 ± 0.97
Mesencephalon4.04 ± 1.08
Myelencephalon3.93 ± 0.77
Occipital Lobe4.35 ± 0.93
Parietal Lobe4.73 ± 0.63
Pontine Tegmentum4.09 ± 0.82
Striatum2.61 ± 1.26
Subthalamus4.13 ± 0.25
Temporal Lobe4.62 ± 0.47
Thalamus3.53 ± 0.88
White Matter3.77 ± 0.66
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
MybphlCBCerebellum3.79
3.89
MybphlCTXCerebral cortex6.4
5.85
MybphlHIPHippocampal region2.93
2.47
MybphlHPFHippocampal formation3.57
3.22
MybphlHYHypothalamus0.19
0.19
MybphlLSXLateral septal complex0.04
0
MybphlMBMidbrain1.68
2.16
MybphlMYMedulla3.85
5.22
MybphlOLFOlfactory bulb7.52
7.07
MybphlPPons1.9
2.78
MybphlPALPallidum0.46
0.5
MybphlRHPRetrohippocampal region5.01
4.77
MybphlsAMYStriatum-like amygdalar nuclei0.4
0.49
MybphlSTRStriatum0.84
0.71
MybphlSTRdStriatum dorsal region1.17
1
MybphlSTRvStriatum ventral region0.25
0.15
MybphlTHThalamus1.55
1.45
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