AutismKB 2.0

Annotation Detail for DEFB134


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Basic Information Top
Gene Symbol:DEFB134 ( MGC163333,MGC163335 )
Gene Full Name: defensin, beta 134
Band: 8p23.1
Quick LinksEntrez ID:613211; OMIM: NA; Uniprot ID:DB134_HUMAN; ENSEMBL ID: ENSG00000205882; HGNC ID: 32399
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_18_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
Amygdala2.37 ± 1
Basal Forebrain1.98 ± 0.26
Basal Part of Pons1.76 ± 0.67
Cerebellar Cortex1.83 ± 0.74
Cerebellar Nuclei2.22 ± 0.78
Claustrum2.82 ± 0.76
Epithalamus1.67 ± 0.78
Frontal Lobe1.8 ± 0.68
Globus Pallidus2.46 ± 0.36
Hypothalamus2.03 ± 0.69
Insula2.04 ± 1.16
Limbic Lobe1.96 ± 0.69
Mesencephalon2.05 ± 0.69
Myelencephalon1.96 ± 0.66
Occipital Lobe1.92 ± 0.48
Parietal Lobe1.93 ± 0.72
Pontine Tegmentum2.02 ± 0.72
Striatum2.14 ± 0.61
Subthalamus2.04 ± 0.68
Temporal Lobe1.84 ± 0.62
Thalamus1.9 ± 0.6
White Matter2.5 ± 0.15
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