AutismKB 2.0

Annotation Detail for SETDB2


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Basic Information Top
Gene Symbol:SETDB2 ( C13orf4,CLLD8,CLLL8,DKFZp586I0123,DKFZp761J1217,KMT1F )
Gene Full Name: SET domain, bifurcated 2
Band: 13q14.2
Quick LinksEntrez ID:83852; OMIM: 607865; Uniprot ID:SETB2_HUMAN; ENSEMBL ID: ENSG00000136169; HGNC ID: 20263
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 body1 / 7076114
blastocyst1 / 6231916
fetus16 / 56401228
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult30 / 193912115
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 tumor2 / 3436658
chondrosarcoma0 / 828230 
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia3 / 9725030
normal80 / 336030723
ovarian tumor0 / 766820 
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood3 / 12347824
bone0 / 716550 
bone marrow0 / 488010 
brain16 / 110098914
cervix2 / 4817141
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye0 / 2110540 
heart4 / 8962644
intestine2 / 2344728
kidney2 / 2117779
larynx0 / 241450 
liver5 / 20774324
lung3 / 3369748
lymph1 / 4427022
lymph node19 / 91610207
mammary gland4 / 15327126
mouth0 / 670520 
muscle4 / 10771537
nerve0 / 157680 
ovary0 / 1020510 
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta5 / 28082517
prostate4 / 18934521
salivary gland0 / 201550 
skin5 / 21057423
spleen1 / 5395218
stomach0 / 966190 
testis15 / 33044245
thymus3 / 8113136
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P341532
  • 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
Amygdala9.37 ± 0.26
Basal Forebrain9.13 ± 0.17
Basal Part of Pons9.06 ± 0.38
Cerebellar Cortex9.14 ± 0.56
Cerebellar Nuclei9.28 ± 0.27
Claustrum9.57 ± 0.24
Epithalamus9.25 ± 0.36
Frontal Lobe9.07 ± 0.39
Globus Pallidus9.26 ± 0.2
Hypothalamus9.1 ± 0.52
Insula9.36 ± 0.33
Limbic Lobe9.2 ± 0.31
Mesencephalon9.21 ± 0.28
Myelencephalon9.14 ± 0.4
Occipital Lobe9.29 ± 0.21
Parietal Lobe9.1 ± 0.25
Pontine Tegmentum9.18 ± 0.32
Striatum8.9 ± 0.35
Subthalamus9.34 ± 0.21
Temporal Lobe9.21 ± 0.37
Thalamus9 ± 0.28
White Matter9.71 ± 0.27
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Setdb2CBCerebellum1.01
1.33
Setdb2CTXCerebral cortex1.73
1.46
Setdb2HIPHippocampal region2.53
2.76
Setdb2HPFHippocampal formation2.25
2.2
Setdb2HYHypothalamus1.22
0.85
Setdb2LSXLateral septal complex0.72
0.56
Setdb2MBMidbrain0.48
0.78
Setdb2MYMedulla0.58
0.7
Setdb2OLFOlfactory bulb5.53
5.51
Setdb2PPons0.82
1.04
Setdb2PALPallidum0.56
0.47
Setdb2RHPRetrohippocampal region1.77
1.41
Setdb2sAMYStriatum-like amygdalar nuclei0.45
0.37
Setdb2STRStriatum0.81
0.64
Setdb2STRdStriatum dorsal region0.76
0.66
Setdb2STRvStriatum ventral region1.24
0.79
Setdb2THThalamus0.52
0.49
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