AutismKB 2.0

Annotation Detail for DEFB113


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Basic Information Top
Gene Symbol:DEFB113 ( DEFB-13 )
Gene Full Name: defensin, beta 113
Band: 6p12.3
Quick LinksEntrez ID:245927; OMIM: NA; Uniprot ID:DB113_HUMAN; ENSEMBL ID: ENSG00000214642; HGNC ID: 18094
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_8_PI416987708
  • 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
Amygdala2.1 ± 1.09
Basal Forebrain1.62 ± 0.22
Basal Part of Pons1.39 ± 0.43
Cerebellar Cortex1.57 ± 0.88
Cerebellar Nuclei1.89 ± 0.71
Claustrum2.52 ± 0.91
Epithalamus1.54 ± 0.88
Frontal Lobe1.45 ± 0.66
Globus Pallidus2.21 ± 0.41
Hypothalamus1.71 ± 0.7
Insula1.41 ± 0.45
Limbic Lobe1.6 ± 0.63
Mesencephalon1.79 ± 0.73
Myelencephalon1.68 ± 0.71
Occipital Lobe1.69 ± 0.64
Parietal Lobe1.75 ± 0.96
Pontine Tegmentum1.66 ± 0.65
Striatum1.68 ± 0.44
Subthalamus1.77 ± 0.67
Temporal Lobe1.57 ± 0.69
Thalamus1.62 ± 0.62
White Matter1.98 ± 0.14
Mouse Brain ISH
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