AutismKB 2.0

Annotation Detail for SETDB1


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Basic Information Top
Gene Symbol:SETDB1 ( ESET,H3-K9-HMTase4,KG1T,KIAA0067,KMT1E )
Gene Full Name: SET domain, bifurcated 1
Band: 1q21.3
Quick LinksEntrez ID:9869; OMIM: 604396; Uniprot ID:SETB1_HUMAN; ENSEMBL ID: ENSG00000143379; HGNC ID: 10761
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
blastocyst2 / 6231932
fetus22 / 56401239
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult90 / 193912146
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor4 / 9417842
cervical tumor4 / 34366116
chondrosarcoma4 / 8282348
colorectal tumor9 / 11424678
esophageal tumor1 / 1729057
gastrointestinal tumor7 / 11936958
germ cell tumor22 / 26384583
glioma2 / 10688318
head and neck tumor20 / 136302146
kidney tumor1 / 6895914
leukemia3 / 9584231
liver tumor1 / 9635910
lung tumor11 / 103127106
lymphoma4 / 7175555
non-neoplasia2 / 9725020
normal132 / 336030739
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer2 / 10268019
retinoblastoma7 / 46356151
skin tumor13 / 124949104
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland0 / 331970 
ascites6 / 40015149
bladder2 / 2975767
blood2 / 12347816
bone5 / 7165569
bone marrow2 / 4880140
brain60 / 110098954
cervix4 / 4817183
connective tissue6 / 14925540
ear1 / 1621261
embryonic tissue7 / 21572232
esophagus1 / 2020949
eye10 / 21105447
heart2 / 8962622
intestine14 / 23447259
kidney10 / 21177747
larynx0 / 241450 
liver3 / 20774314
lung19 / 33697456
lymph1 / 4427022
lymph node4 / 9161043
mammary gland5 / 15327132
mouth15 / 67052223
muscle5 / 10771546
nerve0 / 157680 
ovary3 / 10205129
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta8 / 28082528
prostate5 / 18934526
salivary gland1 / 2015549
skin13 / 21057461
spleen3 / 5395255
stomach0 / 966190 
testis51 / 330442154
thymus10 / 81131123
thyroid4 / 4747384
tonsil4 / 16999235
trachea3 / 5241357
umbilical cord0 / 136800 
uterus18 / 23287877
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214197_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts58.8
Adipocyte67.5
AdrenalCortex58.45
Adrenalgland46.9
Amygdala50.4
Appendix60.6
AtrioventricularNode46.5
BDCA4+_DentriticCells51.85
Bonemarrow66.75
BronchialEpithelialCells52.2
CD105+_Endothelial50.35
CD14+_Monocytes54.9
CD19+_BCells(neg._sel.)54.8
CD33+_Myeloid68.55
CD34+59.85
CD4+_Tcells54.05
CD56+_NKCells56.95
CD71+_EarlyErythroid50.15
CD8+_Tcells44.8
CardiacMyocytes79.3
Caudatenucleus47.2
Cerebellum44.05
CerebellumPeduncles62.1
CiliaryGanglion43.25
CingulateCortex54.35
Colorectaladenocarcinoma52.35
DorsalRootGanglion40.3
FetalThyroid61.6
Fetalbrain47.25
Fetalliver47.25
Fetallung40.5
GlobusPallidus39.8
Heart75.85
Hypothalamus58.1
Kidney47.55
Leukemia_chronicMyelogenousK-56248.75
Leukemia_promyelocytic-HL-6051.9
Leukemialymphoblastic(MOLT-4)58.4
Liver132.25
Lung63
Lymphnode47.25
Lymphoma_burkitts(Daudi)69.5
Lymphoma_burkitts(Raji)85.9
MedullaOblongata46.3
OccipitalLobe42.1
OlfactoryBulb40.15
Ovary43.05
Pancreas64.85
PancreaticIslet78.8
ParietalLobe55.6
Pituitary61.85
Placenta50.1
Pons50.5
PrefrontalCortex58.7
Prostate59.15
Salivarygland50.55
SkeletalMuscle64.55
Skin44.3
SmoothMuscle70.8
Spinalcord55.9
SubthalamicNucleus49.35
SuperiorCervicalGanglion66.05
TemporalLobe48.75
Testis51.35
TestisGermCell41.25
TestisIntersitial47.6
TestisLeydigCell53.45
TestisSeminiferousTubule44
Thalamus54.35
Thymus42.15
Thyroid65.6
Tongue56.95
Tonsil65.7
Trachea52.95
TrigeminalGanglion57.1
Uterus46.7
UterusCorpus88.1
WholeBlood61.2
Wholebrain40.15
colon41.45
pineal_day55.32
pineal_night54
retina61.125
small_intestine47.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P126398
  • 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
Amygdala3.87 ± 0.64
Basal Forebrain4.15 ± 0.47
Basal Part of Pons4.28 ± 0.41
Cerebellar Cortex4.46 ± 0.32
Cerebellar Nuclei3.67 ± 0.45
Claustrum3.88 ± 0.8
Epithalamus4.13 ± 0.53
Frontal Lobe4.09 ± 0.5
Globus Pallidus3.45 ± 0.29
Hypothalamus3.51 ± 0.62
Insula4.07 ± 0.5
Limbic Lobe3.94 ± 0.46
Mesencephalon3.96 ± 0.6
Myelencephalon3.92 ± 0.55
Occipital Lobe4.06 ± 0.45
Parietal Lobe3.98 ± 0.55
Pontine Tegmentum3.99 ± 0.49
Striatum3.92 ± 0.56
Subthalamus4.01 ± 0.26
Temporal Lobe4.06 ± 0.52
Thalamus4.08 ± 0.5
White Matter3.83 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Setdb1CBCerebellum11.52
11.86
Setdb1CTXCerebral cortex32.75
21.57
Setdb1HIPHippocampal region24.58
22.17
Setdb1HPFHippocampal formation24.95
20.02
Setdb1HYHypothalamus6.36
4.43
Setdb1LSXLateral septal complex21.31
13.91
Setdb1MBMidbrain10.99
9.31
Setdb1MYMedulla10.22
8.83
Setdb1OLFOlfactory bulb34.13
25.56
Setdb1PPons9.29
7.64
Setdb1PALPallidum10.22
7.9
Setdb1RHPRetrohippocampal region25.29
16.94
Setdb1sAMYStriatum-like amygdalar nuclei17.31
10.52
Setdb1STRStriatum13.61
8.92
Setdb1STRdStriatum dorsal region11.71
7.66
Setdb1STRvStriatum ventral region15.39
10.44
Setdb1THThalamus12.59
8.99
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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