AutismKB 2.0

Annotation Detail for DEFA4


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Basic Information Top
Gene Symbol:DEFA4 ( DEF4,HNP-4,HP-4,HP4,MGC120099,MGC138296 )
Gene Full Name: defensin, alpha 4, corticostatin
Band: 8p23.1
Quick LinksEntrez ID:1669; OMIM: 601157; Uniprot ID:DEF4_HUMAN; ENSEMBL ID: ENSG00000164821; HGNC ID: 2763
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus5 / 5640128
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult7 / 19391213
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia7 / 9584273
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal7 / 33603072
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood7 / 12347856
bone1 / 7165513
bone marrow3 / 4880161
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart1 / 8962611
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207269_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.5
Adipocyte3.55
AdrenalCortex3.75
Adrenalgland3
Amygdala3.8
Appendix3.7
AtrioventricularNode2.7
BDCA4+_DentriticCells4
Bonemarrow5671.4
BronchialEpithelialCells3.55
CD105+_Endothelial3.65
CD14+_Monocytes3.85
CD19+_BCells(neg._sel.)4.75
CD33+_Myeloid4.65
CD34+4.6
CD4+_Tcells3.95
CD56+_NKCells4.35
CD71+_EarlyErythroid3.35
CD8+_Tcells3.55
CardiacMyocytes4.5
Caudatenucleus3.25
Cerebellum2.9
CerebellumPeduncles4.05
CiliaryGanglion2.6
CingulateCortex3.65
Colorectaladenocarcinoma3.6
DorsalRootGanglion2.8
FetalThyroid3.5
Fetalbrain3.6
Fetalliver3.15
Fetallung6.7
GlobusPallidus2.6
Heart4.55
Hypothalamus3.9
Kidney2.9
Leukemia_chronicMyelogenousK-5623.25
Leukemia_promyelocytic-HL-603.2
Leukemialymphoblastic(MOLT-4)2.9
Liver4.7
Lung3.95
Lymphnode3.15
Lymphoma_burkitts(Daudi)4.6
Lymphoma_burkitts(Raji)5
MedullaOblongata3.3
OccipitalLobe3.25
OlfactoryBulb2.85
Ovary2.4
Pancreas2.9
PancreaticIslet3.8
ParietalLobe3.75
Pituitary4.2
Placenta3.7
Pons3.4
PrefrontalCortex4.5
Prostate4.25
Salivarygland2.9
SkeletalMuscle4.6
Skin2.75
SmoothMuscle4.05
Spinalcord3.8
SubthalamicNucleus3.3
SuperiorCervicalGanglion4.25
TemporalLobe3.3
Testis3.1
TestisGermCell3
TestisIntersitial3
TestisLeydigCell3.65
TestisSeminiferousTubule3.1
Thalamus3.65
Thymus3.5
Thyroid4.55
Tongue3.5
Tonsil3.5
Trachea3
TrigeminalGanglion3.9
Uterus2.95
UterusCorpus3.2
WholeBlood30.75
Wholebrain3.05
colon3.6
pineal_day4.5
pineal_night4.44
retina4.35
small_intestine3.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13017_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
Amygdala2.16 ± 0.98
Basal Forebrain1.76 ± 0.2
Basal Part of Pons1.5 ± 0.42
Cerebellar Cortex1.65 ± 0.71
Cerebellar Nuclei2.1 ± 0.77
Claustrum2.7 ± 0.91
Epithalamus1.74 ± 1.17
Frontal Lobe1.7 ± 0.86
Globus Pallidus2.25 ± 0.22
Hypothalamus1.96 ± 0.74
Insula1.61 ± 0.5
Limbic Lobe1.78 ± 0.64
Mesencephalon1.98 ± 0.74
Myelencephalon1.84 ± 0.71
Occipital Lobe1.84 ± 0.58
Parietal Lobe1.86 ± 0.74
Pontine Tegmentum1.86 ± 0.72
Striatum1.97 ± 0.55
Subthalamus1.89 ± 0.63
Temporal Lobe1.74 ± 0.75
Thalamus1.79 ± 0.63
White Matter2.1 ± 0.26
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00489544 17 79 95 VGNCLIGGVSFTYCCTR Peptide Atlas

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