AutismKB 2.0

Annotation Detail for DEFB135


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Basic Information Top
Gene Symbol:DEFB135 ( DEFB136 )
Gene Full Name: defensin, beta 135
Band: 8p23.1
Quick LinksEntrez ID:613209; OMIM: NA; Uniprot ID:DB135_HUMAN; ENSEMBL ID: ENSG00000205883; HGNC ID: 32400
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_553_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
Amygdala4.83 ± 0.9
Basal Forebrain4.81 ± 0.49
Basal Part of Pons4.61 ± 0.65
Cerebellar Cortex4.27 ± 0.65
Cerebellar Nuclei4.21 ± 0.41
Claustrum4.74 ± 0.76
Epithalamus3.78 ± 0.42
Frontal Lobe4.44 ± 0.63
Globus Pallidus5.07 ± 0.57
Hypothalamus4.25 ± 0.54
Insula4.26 ± 0.77
Limbic Lobe4.77 ± 0.63
Mesencephalon4.46 ± 0.66
Myelencephalon4.58 ± 0.7
Occipital Lobe4.71 ± 0.61
Parietal Lobe4.4 ± 0.65
Pontine Tegmentum4.41 ± 0.62
Striatum4.76 ± 0.68
Subthalamus3.97 ± 0.17
Temporal Lobe4.46 ± 0.8
Thalamus4.59 ± 0.6
White Matter4.68 ± 0.61
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