AutismKB 2.0

Annotation Detail for BEST3


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Basic Information Top
Gene Symbol:BEST3 ( MGC13168,MGC40411,VMD2L3 )
Gene Full Name: bestrophin 3
Band: 12q15
Quick LinksEntrez ID:144453; OMIM: 607337; Uniprot ID:BEST3_HUMAN; ENSEMBL ID: ENSG00000127325; HGNC ID: 17105
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 
fetus6 / 56401210
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult15 / 19391217
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 tumor2 / 3436658
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma2 / 10688318
head and neck tumor7 / 13630251
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma9 / 71755125
non-neoplasia0 / 972500 
normal18 / 33603075
ovarian tumor0 / 766820 
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor3 / 12519123
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 marrow1 / 4880120
brain6 / 11009895
cervix2 / 4817141
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye0 / 2110540 
heart2 / 8962622
intestine0 / 2344720 
kidney4 / 21177718
larynx0 / 241450 
liver0 / 2077430 
lung10 / 33697429
lymph2 / 4427045
lymph node2 / 9161021
mammary gland0 / 1532710 
mouth10 / 67052149
muscle2 / 10771518
nerve1 / 1576863
ovary0 / 1020510 
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
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
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5178_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
Amygdala2.13 ± 1.09
Basal Forebrain1.68 ± 0.22
Basal Part of Pons1.52 ± 0.43
Cerebellar Cortex2.41 ± 0.53
Cerebellar Nuclei2.02 ± 0.69
Claustrum2.61 ± 0.83
Epithalamus1.38 ± 0.73
Frontal Lobe1.6 ± 0.67
Globus Pallidus2.78 ± 0.94
Hypothalamus2.09 ± 1.27
Insula1.45 ± 0.48
Limbic Lobe1.78 ± 0.7
Mesencephalon1.99 ± 0.8
Myelencephalon1.82 ± 0.79
Occipital Lobe1.77 ± 0.64
Parietal Lobe1.76 ± 0.86
Pontine Tegmentum1.79 ± 0.64
Striatum1.57 ± 0.72
Subthalamus2.42 ± 0.4
Temporal Lobe1.63 ± 0.72
Thalamus1.81 ± 0.63
White Matter2.16 ± 0.45
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
BEST3_HUMAN_397 13 397 409 RFLSAHEHPSSPR 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