AutismKB 2.0

Annotation Detail for DEFB136


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:DEFB136 ( DEFB137 )
Gene Full Name: defensin, beta 136
Band: 8p23.1
Quick LinksEntrez ID:613210; OMIM: NA; Uniprot ID:DB136_HUMAN; ENSEMBL ID: ENSG00000205884; HGNC ID: 34433
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_9_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
Amygdala2.4 ± 1.01
Basal Forebrain1.75 ± 0.2
Basal Part of Pons1.47 ± 0.35
Cerebellar Cortex1.65 ± 0.72
Cerebellar Nuclei2.12 ± 0.71
Claustrum2.62 ± 0.89
Epithalamus1.51 ± 0.78
Frontal Lobe1.65 ± 0.64
Globus Pallidus2.27 ± 0.32
Hypothalamus1.86 ± 0.71
Insula1.85 ± 0.75
Limbic Lobe1.85 ± 0.64
Mesencephalon2 ± 0.7
Myelencephalon1.87 ± 0.67
Occipital Lobe2.13 ± 0.99
Parietal Lobe1.84 ± 0.71
Pontine Tegmentum1.92 ± 0.7
Striatum2.14 ± 0.62
Subthalamus2.03 ± 0.54
Temporal Lobe1.72 ± 0.57
Thalamus1.78 ± 0.64
White Matter2.18 ± 0.15
Mouse Brain ISH
Peptide Top

Simple Query:


  (e.g. CHD8)

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