AutismKB 2.0

Annotation Detail for SETD2


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Basic Information Top
Gene Symbol:SETD2 ( FLJ16420,FLJ22472,FLJ23184,FLJ45883,FLJ46217,HBP231,HIF-1,HYPB,KIAA1732,KMT3A,SET2,p231HBP )
Gene Full Name: SET domain containing 2
Band: 3p21.31
Quick LinksEntrez ID:29072; OMIM: 612778; Uniprot ID:SETD2_HUMAN; ENSEMBL ID: ENSG00000181555; HGNC ID: 18420
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 body10 / 70761141
blastocyst2 / 6231932
fetus48 / 56401285
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult136 / 193912170
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) tumor2 / 9417821
cervical tumor1 / 3436629
chondrosarcoma11 / 82823132
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor22 / 26384583
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor5 / 6895972
leukemia1 / 9584210
liver tumor13 / 96359134
lung tumor22 / 103127213
lymphoma4 / 7175555
non-neoplasia4 / 9725041
normal222 / 336030766
ovarian tumor8 / 76682104
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor12 / 12494996
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor16 / 90257177
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder0 / 297570 
blood5 / 12347840
bone6 / 7165583
bone marrow2 / 4880140
brain35 / 110098931
cervix1 / 4817120
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue17 / 21572278
esophagus0 / 202090 
eye8 / 21105437
heart4 / 8962644
intestine13 / 23447255
kidney19 / 21177789
larynx0 / 241450 
liver18 / 20774386
lung55 / 336974163
lymph0 / 442700 
lymph node11 / 91610120
mammary gland5 / 15327132
mouth1 / 6705214
muscle10 / 10771592
nerve2 / 15768126
ovary9 / 10205188
pancreas14 / 21481265
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta6 / 28082521
prostate22 / 189345116
salivary gland0 / 201550 
skin14 / 21057466
spleen5 / 5395292
stomach7 / 9661972
testis18 / 33044254
thymus3 / 8113136
thyroid3 / 4747363
tonsil1 / 1699958
trachea4 / 5241376
umbilical cord0 / 136800 
uterus28 / 232878120
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 215038_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts159.75
Adipocyte28.35
AdrenalCortex35.15
Adrenalgland25.5
Amygdala42.5
Appendix35.7
AtrioventricularNode23.85
BDCA4+_DentriticCells91.3
Bonemarrow32.1
BronchialEpithelialCells30.25
CD105+_Endothelial60.3
CD14+_Monocytes67.6
CD19+_BCells(neg._sel.)86.75
CD33+_Myeloid61
CD34+121.3
CD4+_Tcells123.4
CD56+_NKCells100.4
CD71+_EarlyErythroid78.2
CD8+_Tcells180.25
CardiacMyocytes59.4
Caudatenucleus28.45
Cerebellum19.95
CerebellumPeduncles33.8
CiliaryGanglion29.75
CingulateCortex40.2
Colorectaladenocarcinoma44.3
DorsalRootGanglion33
FetalThyroid35.55
Fetalbrain41.3
Fetalliver38.15
Fetallung70.9
GlobusPallidus22.45
Heart42.1
Hypothalamus32.2
Kidney22.9
Leukemia_chronicMyelogenousK-56244.5
Leukemia_promyelocytic-HL-6083.85
Leukemialymphoblastic(MOLT-4)49.45
Liver37.2
Lung16.75
Lymphnode44
Lymphoma_burkitts(Daudi)154
Lymphoma_burkitts(Raji)54.25
MedullaOblongata26.8
OccipitalLobe29.95
OlfactoryBulb25.9
Ovary20.45
Pancreas21.45
PancreaticIslet37.55
ParietalLobe37.45
Pituitary36.8
Placenta27.2
Pons30.25
PrefrontalCortex50
Prostate35.35
Salivarygland20.2
SkeletalMuscle75.65
Skin23.35
SmoothMuscle42.25
Spinalcord32.15
SubthalamicNucleus36.4
SuperiorCervicalGanglion36.15
TemporalLobe28.45
Testis25.1
TestisGermCell95.45
TestisIntersitial34.7
TestisLeydigCell33.55
TestisSeminiferousTubule42.35
Thalamus36.9
Thymus32.1
Thyroid85.85
Tongue47.55
Tonsil49.05
Trachea26.85
TrigeminalGanglion31.7
Uterus40.5
UterusCorpus44.9
WholeBlood44.65
Wholebrain20.5
colon33.35
pineal_day61.12
pineal_night62.88
retina38.65
small_intestine38.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P187787
  • 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
Amygdala9.35 ± 0.19
Basal Forebrain9.58 ± 0.1
Basal Part of Pons9.23 ± 0.23
Cerebellar Cortex9.68 ± 0.19
Cerebellar Nuclei9.18 ± 0.22
Claustrum9.37 ± 0.41
Epithalamus9.64 ± 0.27
Frontal Lobe9.22 ± 0.27
Globus Pallidus9.6 ± 0.3
Hypothalamus9.11 ± 0.28
Insula9.19 ± 0.25
Limbic Lobe9.38 ± 0.33
Mesencephalon9.36 ± 0.27
Myelencephalon9.32 ± 0.28
Occipital Lobe9.65 ± 0.34
Parietal Lobe9.38 ± 0.24
Pontine Tegmentum9.3 ± 0.31
Striatum9.38 ± 0.37
Subthalamus9.12 ± 0.32
Temporal Lobe9.32 ± 0.24
Thalamus9.26 ± 0.18
White Matter10.09 ± 0.31
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Setd2CBCerebellum31.32
34.46
Setd2CTXCerebral cortex90.01
68.92
Setd2HIPHippocampal region50.03
67.42
Setd2HPFHippocampal formation59.29
64.67
Setd2HYHypothalamus40.84
29.74
Setd2LSXLateral septal complex69.85
48.76
Setd2MBMidbrain37.53
30.8
Setd2MYMedulla37.58
36.14
Setd2OLFOlfactory bulb81.36
67.02
Setd2PPons37.36
33.15
Setd2PALPallidum38
29.61
Setd2RHPRetrohippocampal region78.74
63.9
Setd2sAMYStriatum-like amygdalar nuclei54.66
39.16
Setd2STRStriatum60.44
43.32
Setd2STRdStriatum dorsal region61.85
45.19
Setd2STRvStriatum ventral region57.19
38.5
Setd2THThalamus47.52
36.3
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00500861 21 1157 1177 LPELSHPQSDGVDSTSHTDVK 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


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