AutismKB 2.0

Annotation Detail for DEFB114


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Basic Information Top
Gene Symbol:DEFB114 ( DEFB-14 )
Gene Full Name: defensin, beta 114
Band: 6p12.3
Quick LinksEntrez ID:245928; OMIM: NA; Uniprot ID:DB114_HUMAN; ENSEMBL ID: ENSG00000177684; HGNC ID: 18095
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_215_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
Amygdala2.01 ± 1.04
Basal Forebrain1.66 ± 0.41
Basal Part of Pons1.25 ± 0.33
Cerebellar Cortex1.31 ± 0.63
Cerebellar Nuclei1.72 ± 0.67
Claustrum2.33 ± 0.88
Epithalamus1.27 ± 0.93
Frontal Lobe1.33 ± 0.65
Globus Pallidus2.15 ± 0.55
Hypothalamus1.52 ± 0.66
Insula1.29 ± 0.48
Limbic Lobe1.53 ± 0.72
Mesencephalon1.57 ± 0.65
Myelencephalon1.54 ± 0.72
Occipital Lobe1.7 ± 0.72
Parietal Lobe1.46 ± 0.73
Pontine Tegmentum1.63 ± 0.88
Striatum1.65 ± 0.64
Subthalamus1.61 ± 0.69
Temporal Lobe1.45 ± 0.78
Thalamus1.48 ± 0.63
White Matter1.88 ± 0.22
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