AutismKB 2.0

Annotation Detail for DEFB4A


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Basic Information Top
Gene Symbol:DEFB4A ( DEFB-2,DEFB102,DEFB2,DEFB4,HBD-2,SAP1 )
Gene Full Name: defensin, beta 4A
Band: 8p23.1
Quick LinksEntrez ID:1673; OMIM: 602215; Uniprot ID:DFB4A_HUMAN; ENSEMBL ID: ENSG00000171711; HGNC ID: 2767
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207356_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.25
Adipocyte4.2
AdrenalCortex5.5
Adrenalgland3.6
Amygdala4.45
Appendix4.45
AtrioventricularNode5
BDCA4+_DentriticCells4.7
Bonemarrow4.35
BronchialEpithelialCells4.2
CD105+_Endothelial4.25
CD14+_Monocytes4.55
CD19+_BCells(neg._sel.)4.7
CD33+_Myeloid5.35
CD34+5.3
CD4+_Tcells4.65
CD56+_NKCells5
CD71+_EarlyErythroid4
CD8+_Tcells4
CardiacMyocytes5.55
Caudatenucleus3.8
Cerebellum3.45
CerebellumPeduncles4.85
CiliaryGanglion3.2
CingulateCortex4.35
Colorectaladenocarcinoma4.25
DorsalRootGanglion3.6
FetalThyroid4.1
Fetalbrain4.3
Fetalliver3.75
Fetallung15
GlobusPallidus3.15
Heart5.3
Hypothalamus4.55
Kidney3.5
Leukemia_chronicMyelogenousK-5623.9
Leukemia_promyelocytic-HL-603.75
Leukemialymphoblastic(MOLT-4)3.4
Liver6
Lung4.75
Lymphnode3.9
Lymphoma_burkitts(Daudi)5.45
Lymphoma_burkitts(Raji)6.05
MedullaOblongata4.25
OccipitalLobe3.8
OlfactoryBulb3.65
Ovary3.05
Pancreas3.9
PancreaticIslet6.8
ParietalLobe4.6
Pituitary5
Placenta4.3
Pons4.2
PrefrontalCortex5.3
Prostate5.05
Salivarygland3.45
SkeletalMuscle5.2
Skin3.45
SmoothMuscle4.8
Spinalcord4.55
SubthalamicNucleus3.9
SuperiorCervicalGanglion5.2
TemporalLobe3.95
Testis3.6
TestisGermCell3.55
TestisIntersitial3.6
TestisLeydigCell4.35
TestisSeminiferousTubule3.6
Thalamus4.35
Thymus4.8
Thyroid5.45
Tongue10.15
Tonsil4.55
Trachea3.6
TrigeminalGanglion4.6
Uterus3.65
UterusCorpus4
WholeBlood4.65
Wholebrain3.55
colon4.25
pineal_day5.34
pineal_night5.22
retina5.1
small_intestine4.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16711_PI416261804
  • 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
Amygdala3.43 ± 0.97
Basal Forebrain2.94 ± 0.42
Basal Part of Pons3.1 ± 0.72
Cerebellar Cortex2.86 ± 0.76
Cerebellar Nuclei3.15 ± 0.66
Claustrum3.55 ± 1
Epithalamus2.65 ± 0.76
Frontal Lobe3.04 ± 0.84
Globus Pallidus2.97 ± 0.68
Hypothalamus2.59 ± 0.51
Insula2.96 ± 0.6
Limbic Lobe3.21 ± 0.79
Mesencephalon3.19 ± 0.85
Myelencephalon3.05 ± 0.72
Occipital Lobe3.22 ± 0.84
Parietal Lobe2.96 ± 0.75
Pontine Tegmentum2.89 ± 0.73
Striatum3.08 ± 0.76
Subthalamus2.93 ± 0.72
Temporal Lobe2.98 ± 0.86
Thalamus3.01 ± 0.71
White Matter3.17 ± 0.6
Mouse Brain ISH
Peptide Top

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  (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