AutismKB 2.0

Annotation Detail for DEF6


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Basic Information Top
Gene Symbol:DEF6 ( IBP,SLAT,SWAP70L )
Gene Full Name: differentially expressed in FDCP 6 homolog (mouse)
Band: 6p21.31
Quick LinksEntrez ID:50619; OMIM: 610094; Uniprot ID:DEFI6_HUMAN; ENSEMBL ID: ENSG00000023892; HGNC ID: 2760
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 
fetus18 / 56401231
neonate0 / 310970 
infant1 / 2362042
juvenile1 / 5555617
adult56 / 193912128
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 
chondrosarcoma3 / 8282336
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor17 / 26384564
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia10 / 95842104
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma5 / 7175569
non-neoplasia1 / 9725010
normal68 / 336030720
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor5 / 12494940
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 
ascites3 / 4001574
bladder0 / 297570 
blood5 / 12347840
bone3 / 7165541
bone marrow5 / 48801102
brain12 / 110098910
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine4 / 23447217
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung6 / 33697417
lymph0 / 442700 
lymph node4 / 9161043
mammary gland2 / 15327113
mouth1 / 6705214
muscle0 / 1077150 
nerve0 / 157680 
ovary3 / 10205129
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta21 / 28082574
prostate6 / 18934531
salivary gland0 / 201550 
skin5 / 21057423
spleen1 / 5395218
stomach1 / 9661910
testis3 / 3304429
thymus7 / 8113186
thyroid0 / 474730 
tonsil1 / 1699958
trachea1 / 5241319
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221293_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts33.5
Adipocyte7.75
AdrenalCortex9.5
Adrenalgland6.95
Amygdala7.5
Appendix7.55
AtrioventricularNode6.35
BDCA4+_DentriticCells86.9
Bonemarrow19.1
BronchialEpithelialCells8.9
CD105+_Endothelial7.95
CD14+_Monocytes23
CD19+_BCells(neg._sel.)21.35
CD33+_Myeloid21.5
CD34+10.4
CD4+_Tcells157.4
CD56+_NKCells59.6
CD71+_EarlyErythroid7.8
CD8+_Tcells200.35
CardiacMyocytes13.2
Caudatenucleus6.8
Cerebellum7.1
CerebellumPeduncles15.25
CiliaryGanglion10.3
CingulateCortex8.4
Colorectaladenocarcinoma10.35
DorsalRootGanglion5.8
FetalThyroid10.05
Fetalbrain8.5
Fetalliver7.4
Fetallung6.45
GlobusPallidus6.4
Heart11.4
Hypothalamus8.35
Kidney10.7
Leukemia_chronicMyelogenousK-5629.15
Leukemia_promyelocytic-HL-606.9
Leukemialymphoblastic(MOLT-4)40.65
Liver11.6
Lung9.75
Lymphnode40.2
Lymphoma_burkitts(Daudi)19.9
Lymphoma_burkitts(Raji)13.7
MedullaOblongata7.05
OccipitalLobe7.85
OlfactoryBulb6.2
Ovary11.75
Pancreas8.95
PancreaticIslet7.7
ParietalLobe7.55
Pituitary10.85
Placenta8
Pons10.4
PrefrontalCortex8.15
Prostate10.1
Salivarygland9.35
SkeletalMuscle9.15
Skin6
SmoothMuscle10.1
Spinalcord7.15
SubthalamicNucleus6.65
SuperiorCervicalGanglion9.9
TemporalLobe8.25
Testis16.6
TestisGermCell8.1
TestisIntersitial11
TestisLeydigCell10.75
TestisSeminiferousTubule12.35
Thalamus8.9
Thymus29.15
Thyroid10.35
Tongue13.05
Tonsil26.3
Trachea15.6
TrigeminalGanglion7.45
Uterus6.7
UterusCorpus11.75
WholeBlood44.3
Wholebrain6.65
colon9.85
pineal_day11
pineal_night8.88
retina10.65
small_intestine9.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15375_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
Amygdala2.22 ± 0.88
Basal Forebrain1.52 ± 0.43
Basal Part of Pons1.69 ± 0.77
Cerebellar Cortex1.23 ± 0.79
Cerebellar Nuclei1.82 ± 0.71
Claustrum2.18 ± 0.78
Epithalamus1.58 ± 0.86
Frontal Lobe1.57 ± 0.81
Globus Pallidus2.99 ± 0.54
Hypothalamus1.7 ± 0.94
Insula1.5 ± 0.77
Limbic Lobe1.6 ± 0.92
Mesencephalon1.66 ± 0.81
Myelencephalon1.7 ± 0.74
Occipital Lobe1.37 ± 0.75
Parietal Lobe1.72 ± 0.86
Pontine Tegmentum1.56 ± 0.88
Striatum2.01 ± 0.66
Subthalamus1.47 ± 0.7
Temporal Lobe1.46 ± 0.9
Thalamus1.6 ± 0.7
White Matter2.43 ± 1.03
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Def6CBCerebellum7.99
9.84
Def6CTXCerebral cortex8.73
6.35
Def6HIPHippocampal region1.91
1.78
Def6HPFHippocampal formation3.44
2.91
Def6HYHypothalamus1.89
1.73
Def6LSXLateral septal complex0
0
Def6MBMidbrain1.85
1.91
Def6MYMedulla6.46
7.79
Def6OLFOlfactory bulb4.09
2.92
Def6PPons3.62
4.62
Def6PALPallidum0.31
0.25
Def6RHPRetrohippocampal region6.03
4.49
Def6sAMYStriatum-like amygdalar nuclei0.24
0.19
Def6STRStriatum0.92
0.84
Def6STRdStriatum dorsal region1.15
1.14
Def6STRvStriatum ventral region0.96
0.61
Def6THThalamus0.19
0.16
Peptide Top

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


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