AutismKB 2.0

Annotation Detail for DEFA1B


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Basic Information Top
Gene Symbol:DEFA1B ( DEFA1,HNP-1,HP-1,HP1 )
Gene Full Name: defensin, alpha 1B
Band: 8p23.1
Quick LinksEntrez ID:728358; OMIM: NA; Uniprot ID:DEF1_HUMAN; ENSEMBL ID: ENSG00000215378; HGNC ID: 33596
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205033_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.15
Adipocyte7.3
AdrenalCortex9.55
Adrenalgland8
Amygdala7.8
Appendix16
AtrioventricularNode7.3
BDCA4+_DentriticCells7.2
Bonemarrow36805.2
BronchialEpithelialCells7.2
CD105+_Endothelial7.5
CD14+_Monocytes8
CD19+_BCells(neg._sel.)7.8
CD33+_Myeloid33.75
CD34+9.15
CD4+_Tcells7.9
CD56+_NKCells8.7
CD71+_EarlyErythroid6.9
CD8+_Tcells6.6
CardiacMyocytes9.7
Caudatenucleus6.7
Cerebellum6.3
CerebellumPeduncles8.95
CiliaryGanglion6.4
CingulateCortex7.85
Colorectaladenocarcinoma7.45
DorsalRootGanglion6.35
FetalThyroid7.25
Fetalbrain7.45
Fetalliver32.3
Fetallung2167.9
GlobusPallidus5.85
Heart37.55
Hypothalamus8.05
Kidney6.55
Leukemia_chronicMyelogenousK-5626.75
Leukemia_promyelocytic-HL-606.6
Leukemialymphoblastic(MOLT-4)5.95
Liver10.65
Lung13.45
Lymphnode38.85
Lymphoma_burkitts(Daudi)9.55
Lymphoma_burkitts(Raji)11.15
MedullaOblongata6.8
OccipitalLobe6.65
OlfactoryBulb5.85
Ovary8.1
Pancreas6.2
PancreaticIslet7.95
ParietalLobe8.3
Pituitary8.85
Placenta8.1
Pons9.55
PrefrontalCortex9.35
Prostate396.4
Salivarygland6.3
SkeletalMuscle12.75
Skin6.7
SmoothMuscle8.35
Spinalcord34.05
SubthalamicNucleus7.1
SuperiorCervicalGanglion15
TemporalLobe7
Testis6.45
TestisGermCell6.15
TestisIntersitial6.4
TestisLeydigCell7.35
TestisSeminiferousTubule6.45
Thalamus7.6
Thymus1060.6
Thyroid9.25
Tongue7.85
Tonsil7.4
Trachea6.25
TrigeminalGanglion9
Uterus6.1
UterusCorpus7.3
WholeBlood2792.55
Wholebrain6.2
colon7.3
pineal_day9.04
pineal_night9.38
retina25.225
small_intestine7.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
DEF1_HUMAN_70 9 70 78 IPACIAGER PRIDE
DEF1_HUMAN_80 9 80 88 YGTCIYQGR PRIDE
PAp00034991 9 70 78 IPACIAGER Peptide Atlas

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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