AutismKB 2.0

Annotation Detail for DEFB112


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Basic Information Top
Gene Symbol:DEFB112 ( DEFB-12 )
Gene Full Name: defensin, beta 112
Band: 6p12.3
Quick LinksEntrez ID:245915; OMIM: NA; Uniprot ID:DB112_HUMAN; ENSEMBL ID: ENSG00000180872; HGNC ID: 18093
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_636_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
Amygdala2.22 ± 1.05
Basal Forebrain2.1 ± 0.54
Basal Part of Pons1.44 ± 0.36
Cerebellar Cortex1.72 ± 0.79
Cerebellar Nuclei2.11 ± 0.63
Claustrum2.76 ± 0.93
Epithalamus1.48 ± 0.76
Frontal Lobe1.74 ± 0.7
Globus Pallidus2.79 ± 1.14
Hypothalamus1.9 ± 0.61
Insula1.69 ± 0.6
Limbic Lobe1.88 ± 0.68
Mesencephalon2.05 ± 0.74
Myelencephalon1.89 ± 0.69
Occipital Lobe1.86 ± 0.65
Parietal Lobe1.85 ± 0.71
Pontine Tegmentum1.99 ± 0.72
Striatum2.1 ± 0.56
Subthalamus1.92 ± 0.7
Temporal Lobe1.75 ± 0.68
Thalamus1.8 ± 0.61
White Matter2.2 ± 0.25
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