AutismKB 2.0

Annotation Detail for DEAF1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:DEAF1 ( NUDR,SPN,ZMYND5 )
Gene Full Name: deformed epidermal autoregulatory factor 1 (Drosophila)
Band: 11p15.5
Quick LinksEntrez ID:10522; OMIM: 602635; Uniprot ID:DEAF1_HUMAN; ENSEMBL ID: ENSG00000177030; HGNC ID: 14677
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 body2 / 7076128
blastocyst3 / 6231948
fetus23 / 56401240
neonate0 / 310970 
infant3 / 23620127
juvenile2 / 5555635
adult100 / 193912151
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma13 / 17475743
breast (mammary gland) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma8 / 8282396
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor3 / 11936925
germ cell tumor14 / 26384553
glioma10 / 10688393
head and neck tumor11 / 13630280
kidney tumor6 / 6895987
leukemia1 / 9584210
liver tumor2 / 9635920
lung tumor6 / 10312758
lymphoma2 / 7175527
non-neoplasia3 / 9725030
normal123 / 336030736
ovarian tumor9 / 76682117
pancreatic tumor16 / 104616152
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites2 / 4001549
bladder13 / 29757436
blood4 / 12347832
bone5 / 7165569
bone marrow0 / 488010 
brain81 / 110098973
cervix1 / 4817120
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus1 / 2020949
eye13 / 21105461
heart9 / 89626100
intestine5 / 23447221
kidney11 / 21177751
larynx4 / 24145165
liver2 / 2077439
lung10 / 33697429
lymph2 / 4427045
lymph node1 / 9161010
mammary gland9 / 15327158
mouth0 / 670520 
muscle1 / 1077159
nerve5 / 15768317
ovary17 / 102051166
pancreas17 / 21481279
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta6 / 28082521
prostate4 / 18934521
salivary gland5 / 20155248
skin4 / 21057418
spleen0 / 539520 
stomach3 / 9661931
testis8 / 33044224
thymus0 / 811310 
thyroid2 / 4747342
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus10 / 23287842
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209407_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts11.65
Adipocyte8.3
AdrenalCortex7.4
Adrenalgland6.1
Amygdala59.2
Appendix6.85
AtrioventricularNode4.65
BDCA4+_DentriticCells7.7
Bonemarrow6.6
BronchialEpithelialCells6.55
CD105+_Endothelial6.6
CD14+_Monocytes7.25
CD19+_BCells(neg._sel.)6.9
CD33+_Myeloid8.3
CD34+9.35
CD4+_Tcells8.1
CD56+_NKCells8.45
CD71+_EarlyErythroid6.7
CD8+_Tcells7.25
CardiacMyocytes9.05
Caudatenucleus23.3
Cerebellum28.45
CerebellumPeduncles35.6
CiliaryGanglion4.6
CingulateCortex19.35
Colorectaladenocarcinoma10.55
DorsalRootGanglion4.75
FetalThyroid7.15
Fetalbrain38.4
Fetalliver5.75
Fetallung5.85
GlobusPallidus12.8
Heart10.95
Hypothalamus25.7
Kidney5.85
Leukemia_chronicMyelogenousK-5626.6
Leukemia_promyelocytic-HL-6010.95
Leukemialymphoblastic(MOLT-4)5.8
Liver8.8
Lung8.15
Lymphnode5.65
Lymphoma_burkitts(Daudi)7.95
Lymphoma_burkitts(Raji)71.8
MedullaOblongata19.05
OccipitalLobe21.75
OlfactoryBulb5.25
Ovary4.3
Pancreas5.85
PancreaticIslet6.8
ParietalLobe17.35
Pituitary8.05
Placenta8.1
Pons15.9
PrefrontalCortex77
Prostate8.75
Salivarygland4.9
SkeletalMuscle7.95
Skin4.75
SmoothMuscle8.15
Spinalcord9.95
SubthalamicNucleus19.2
SuperiorCervicalGanglion7.9
TemporalLobe40.35
Testis6.35
TestisGermCell6.25
TestisIntersitial5.45
TestisLeydigCell7.15
TestisSeminiferousTubule5.8
Thalamus29.95
Thymus5.55
Thyroid14.4
Tongue6.6
Tonsil7
Trachea5.4
TrigeminalGanglion6.75
Uterus5.4
UterusCorpus6.05
WholeBlood6.75
Wholebrain45.75
colon6
pineal_day8.88
pineal_night8.76
retina10.175
small_intestine5.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P35375
  • 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
Amygdala8.36 ± 0.51
Basal Forebrain8.19 ± 0.31
Basal Part of Pons8.41 ± 0.37
Cerebellar Cortex7.98 ± 0.31
Cerebellar Nuclei8.34 ± 0.42
Claustrum8.47 ± 0.36
Epithalamus7.98 ± 0.53
Frontal Lobe8.35 ± 0.46
Globus Pallidus8.76 ± 0.37
Hypothalamus8.21 ± 0.51
Insula8.35 ± 0.52
Limbic Lobe8.4 ± 0.42
Mesencephalon8.25 ± 0.41
Myelencephalon8.3 ± 0.45
Occipital Lobe8.25 ± 0.41
Parietal Lobe8.27 ± 0.39
Pontine Tegmentum8.23 ± 0.46
Striatum8.47 ± 0.42
Subthalamus7.94 ± 0.53
Temporal Lobe8.29 ± 0.49
Thalamus8.26 ± 0.4
White Matter8.65 ± 0.36
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Deaf1CBCerebellum100
100
Deaf1CTXCerebral cortex100
100
Deaf1HIPHippocampal region100
100
Deaf1HPFHippocampal formation100
100
Deaf1HYHypothalamus93.83
81.77
Deaf1LSXLateral septal complex76.48
61.22
Deaf1MBMidbrain83.74
78.7
Deaf1MYMedulla52.9
51.42
Deaf1OLFOlfactory bulb100
100
Deaf1PPons72.67
67.87
Deaf1PALPallidum90.94
86.52
Deaf1RHPRetrohippocampal region100
100
Deaf1sAMYStriatum-like amygdalar nuclei100
100
Deaf1STRStriatum100
100
Deaf1STRdStriatum dorsal region100
100
Deaf1STRvStriatum ventral region100
100
Deaf1THThalamus100
100
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved