AutismKB 2.0

Annotation Detail for DEFA6


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:DEFA6 ( DEF6,HD-6 )
Gene Full Name: defensin, alpha 6, Paneth cell-specific
Band: 8p23.1
Quick LinksEntrez ID:1671; OMIM: 600471; Uniprot ID:DEF6_HUMAN; ENSEMBL ID: ENSG00000164822; HGNC ID: 2765
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 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult0 / 19391210 
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 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal47 / 336030713
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 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine46 / 234472196
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 
stomach1 / 9661910
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: 207814_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.85
Adipocyte4.95
AdrenalCortex5.45
Adrenalgland4.4
Amygdala5.25
Appendix5.2
AtrioventricularNode4
BDCA4+_DentriticCells5.15
Bonemarrow5.35
BronchialEpithelialCells4.9
CD105+_Endothelial5
CD14+_Monocytes5.35
CD19+_BCells(neg._sel.)5.25
CD33+_Myeloid6.25
CD34+6.1
CD4+_Tcells5.35
CD56+_NKCells5.85
CD71+_EarlyErythroid4.75
CD8+_Tcells4.7
CardiacMyocytes6.9
Caudatenucleus4.5
Cerebellum4.1
CerebellumPeduncles5.95
CiliaryGanglion3.75
CingulateCortex5.2
Colorectaladenocarcinoma5.05
DorsalRootGanglion3.95
FetalThyroid4.9
Fetalbrain5
Fetalliver4.3
Fetallung4.05
GlobusPallidus3.7
Heart6.4
Hypothalamus5.35
Kidney4
Leukemia_chronicMyelogenousK-5624.5
Leukemia_promyelocytic-HL-604.45
Leukemialymphoblastic(MOLT-4)4.05
Liver6.75
Lung5.5
Lymphnode4.3
Lymphoma_burkitts(Daudi)6.35
Lymphoma_burkitts(Raji)7.25
MedullaOblongata4.55
OccipitalLobe4.5
OlfactoryBulb3.95
Ovary3.4
Pancreas6.55
PancreaticIslet5.4
ParietalLobe5.45
Pituitary5.9
Placenta5.05
Pons4.8
PrefrontalCortex6.15
Prostate5.95
Salivarygland4
SkeletalMuscle6.3
Skin3.95
SmoothMuscle5.65
Spinalcord5.3
SubthalamicNucleus4.6
SuperiorCervicalGanglion5.95
TemporalLobe4.55
Testis4.3
TestisGermCell4.2
TestisIntersitial4.3
TestisLeydigCell5
TestisSeminiferousTubule4.3
Thalamus5.15
Thymus3.95
Thyroid6.25
Tongue5.05
Tonsil4.9
Trachea4.2
TrigeminalGanglion5
Uterus4.15
UterusCorpus4.65
WholeBlood5.5
Wholebrain4.2
colon5.1
pineal_day6.18
pineal_night6.08
retina6.05
small_intestine11452.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P363711
  • 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
Amygdala2.29 ± 1.03
Basal Forebrain1.85 ± 0.21
Basal Part of Pons1.52 ± 0.4
Cerebellar Cortex1.68 ± 0.67
Cerebellar Nuclei2.19 ± 0.74
Claustrum2.76 ± 0.91
Epithalamus1.57 ± 0.7
Frontal Lobe1.75 ± 0.81
Globus Pallidus2.5 ± 0.31
Hypothalamus1.86 ± 0.69
Insula1.69 ± 0.4
Limbic Lobe1.86 ± 0.59
Mesencephalon2.07 ± 0.65
Myelencephalon1.88 ± 0.66
Occipital Lobe1.97 ± 0.77
Parietal Lobe1.87 ± 0.6
Pontine Tegmentum1.88 ± 0.67
Striatum2.01 ± 0.5
Subthalamus2 ± 0.65
Temporal Lobe1.7 ± 0.47
Thalamus1.86 ± 0.59
White Matter2.49 ± 0.44
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00139838 20 43 62 GANDQDFAVSFAEDASSSLR 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