AutismKB 2.0

Annotation Detail for DEFB128


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Basic Information Top
Gene Symbol:DEFB128 ( DEFB-28,DEFB28,hBD-28 )
Gene Full Name: defensin, beta 128
Band: 20p13
Quick LinksEntrez ID:245939; OMIM: NA; Uniprot ID:DB128_HUMAN; ENSEMBL ID: ENSG00000185982; HGNC ID: 18106
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_467_PI416379584
  • 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
Amygdala2.72 ± 0.89
Basal Forebrain2.31 ± 0.39
Basal Part of Pons2.03 ± 0.72
Cerebellar Cortex2.11 ± 0.67
Cerebellar Nuclei2.85 ± 0.53
Claustrum2.82 ± 0.97
Epithalamus1.77 ± 0.89
Frontal Lobe2.25 ± 0.77
Globus Pallidus2.6 ± 0.54
Hypothalamus1.89 ± 0.53
Insula1.97 ± 0.55
Limbic Lobe2.44 ± 0.75
Mesencephalon2.48 ± 0.97
Myelencephalon2.42 ± 0.79
Occipital Lobe2.5 ± 0.96
Parietal Lobe2.28 ± 0.88
Pontine Tegmentum2.34 ± 0.58
Striatum2.7 ± 0.92
Subthalamus2.22 ± 0.86
Temporal Lobe2.21 ± 0.78
Thalamus2.32 ± 0.63
White Matter2.58 ± 0.59
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
9230107O10RikCBCerebellum0.68
1.21
9230107O10RikCTXCerebral cortex0.42
0.66
9230107O10RikHIPHippocampal region0.21
0.22
9230107O10RikHPFHippocampal formation0.21
0.19
9230107O10RikHYHypothalamus0.13
0.07
9230107O10RikLSXLateral septal complex0.09
0
9230107O10RikMBMidbrain0.65
0.63
9230107O10RikMYMedulla0.36
0.66
9230107O10RikOLFOlfactory bulb0.38
1.16
9230107O10RikPPons0.21
0.2
9230107O10RikPALPallidum0.22
0.2
9230107O10RikRHPRetrohippocampal region0.16
0.13
9230107O10RiksAMYStriatum-like amygdalar nuclei0.33
0.27
9230107O10RikSTRStriatum0.23
0.27
9230107O10RikSTRdStriatum dorsal region0.19
0.27
9230107O10RikSTRvStriatum ventral region0.23
0.2
9230107O10RikTHThalamus0.73
1.38
Peptide Top

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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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