AutismKB 2.0

Annotation Detail for DEFB130


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Basic Information Top
Gene Symbol:DEFB130 ( DEFB-30 )
Gene Full Name: defensin, beta 130
Band: 8p23.1
Quick LinksEntrez ID:245940; OMIM: NA; Uniprot ID:DB130_HUMAN; ENSEMBL ID: ENSG00000232948; HGNC ID:
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_663_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
Amygdala2.37 ± 1.07
Basal Forebrain2.21 ± 0.48
Basal Part of Pons2.07 ± 1.08
Cerebellar Cortex1.93 ± 0.96
Cerebellar Nuclei2.46 ± 0.66
Claustrum2.91 ± 0.84
Epithalamus1.64 ± 0.9
Frontal Lobe1.93 ± 0.81
Globus Pallidus2.49 ± 0.51
Hypothalamus2.41 ± 1.34
Insula1.79 ± 0.68
Limbic Lobe2.14 ± 0.83
Mesencephalon2.11 ± 0.75
Myelencephalon2.09 ± 0.79
Occipital Lobe2.08 ± 0.86
Parietal Lobe2.17 ± 0.94
Pontine Tegmentum2.1 ± 0.87
Striatum2.14 ± 0.73
Subthalamus1.99 ± 0.8
Temporal Lobe2.03 ± 0.85
Thalamus2.02 ± 0.71
White Matter2.19 ± 0.2
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