AutismKB 2.0

Annotation Detail for SETBP1


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Basic Information Top
Gene Symbol:SETBP1 ( DKFZp666J1210,KIAA0437,SEB )
Gene Full Name: SET binding protein 1
Band: 18q12.3
Quick LinksEntrez ID:26040; OMIM: 611060; Uniprot ID:SETBP_HUMAN; ENSEMBL ID: ENSG00000152217; HGNC ID: 15573
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
blastocyst1 / 6231916
fetus25 / 56401244
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult38 / 193912119
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 tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor2 / 2638457
glioma1 / 1068839
head and neck tumor2 / 13630214
kidney tumor2 / 6895929
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal86 / 336030725
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
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 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain26 / 110098923
cervix0 / 481710 
connective tissue2 / 14925513
ear2 / 16212123
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye5 / 21105423
heart1 / 8962611
intestine1 / 2344724
kidney12 / 21177756
larynx1 / 2414541
liver0 / 2077430 
lung6 / 33697417
lymph0 / 442700 
lymph node6 / 9161065
mammary gland3 / 15327119
mouth4 / 6705259
muscle1 / 1077159
nerve0 / 157680 
ovary1 / 1020519
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta5 / 28082517
prostate9 / 18934547
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach3 / 9661931
testis6 / 33044218
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205933_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.45
Adipocyte8.65
AdrenalCortex5.15
Adrenalgland4.1
Amygdala7.9
Appendix5.3
AtrioventricularNode4.45
BDCA4+_DentriticCells34.25
Bonemarrow4.9
BronchialEpithelialCells4.45
CD105+_Endothelial4.6
CD14+_Monocytes5
CD19+_BCells(neg._sel.)40.5
CD33+_Myeloid5.7
CD34+5.6
CD4+_Tcells4.8
CD56+_NKCells10.1
CD71+_EarlyErythroid4.6
CD8+_Tcells4.45
CardiacMyocytes5.95
Caudatenucleus4.2
Cerebellum15.1
CerebellumPeduncles15.4
CiliaryGanglion5.75
CingulateCortex5.4
Colorectaladenocarcinoma4.55
DorsalRootGanglion4.35
FetalThyroid6.4
Fetalbrain40.85
Fetalliver4.2
Fetallung4.7
GlobusPallidus11
Heart6.3
Hypothalamus5.15
Kidney12.25
Leukemia_chronicMyelogenousK-5623.95
Leukemia_promyelocytic-HL-604.65
Leukemialymphoblastic(MOLT-4)3.6
Liver6.15
Lung14.65
Lymphnode5.2
Lymphoma_burkitts(Daudi)5.85
Lymphoma_burkitts(Raji)6.65
MedullaOblongata5.9
OccipitalLobe12.85
OlfactoryBulb4.25
Ovary5.55
Pancreas5.1
PancreaticIslet5.55
ParietalLobe5.45
Pituitary5.7
Placenta7.15
Pons4.85
PrefrontalCortex22.85
Prostate25.45
Salivarygland5.5
SkeletalMuscle5.75
Skin4.4
SmoothMuscle5.25
Spinalcord4.8
SubthalamicNucleus4.55
SuperiorCervicalGanglion9.9
TemporalLobe9.5
Testis4.55
TestisGermCell8.8
TestisIntersitial4.05
TestisLeydigCell4.95
TestisSeminiferousTubule4.15
Thalamus4.8
Thymus7
Thyroid7.6
Tongue5.2
Tonsil5.5
Trachea11.6
TrigeminalGanglion12.95
Uterus37.45
UterusCorpus5.6
WholeBlood4.9
Wholebrain13.2
colon23.45
pineal_day9.88
pineal_night8.52
retina30.825
small_intestine10.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P32413
  • 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
Amygdala7.84 ± 0.61
Basal Forebrain8.09 ± 0.38
Basal Part of Pons7.28 ± 0.52
Cerebellar Cortex8.42 ± 0.15
Cerebellar Nuclei7.26 ± 0.27
Claustrum8.75 ± 0.27
Epithalamus8.2 ± 0.54
Frontal Lobe8.03 ± 0.36
Globus Pallidus6.57 ± 0.45
Hypothalamus7.85 ± 0.78
Insula8.12 ± 0.24
Limbic Lobe7.94 ± 0.43
Mesencephalon7.93 ± 0.52
Myelencephalon7.97 ± 0.57
Occipital Lobe8.35 ± 0.36
Parietal Lobe8.12 ± 0.4
Pontine Tegmentum7.95 ± 0.54
Striatum7.19 ± 0.6
Subthalamus7.91 ± 0.33
Temporal Lobe8.02 ± 0.34
Thalamus7.6 ± 0.44
White Matter6.89 ± 0.58
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Setbp1CBCerebellum0.51
0.99
Setbp1CTXCerebral cortex0.38
0.4
Setbp1HIPHippocampal region0.47
0.38
Setbp1HPFHippocampal formation0.5
0.47
Setbp1HYHypothalamus0.27
0.28
Setbp1LSXLateral septal complex0.25
0.38
Setbp1MBMidbrain0.24
0.5
Setbp1MYMedulla0.81
0.98
Setbp1OLFOlfactory bulb0.49
0.93
Setbp1PPons0.52
0.57
Setbp1PALPallidum0.19
0.23
Setbp1RHPRetrohippocampal region0.57
0.65
Setbp1sAMYStriatum-like amygdalar nuclei0.31
0.43
Setbp1STRStriatum0.27
0.33
Setbp1STRdStriatum dorsal region0.23
0.35
Setbp1STRvStriatum ventral region0.33
0.23
Setbp1THThalamus0.18
0.21
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
SETBP_HUMAN_0 0 0 0 KPPKNLENYICPPEIK PRIDE
SETBP_HUMAN_1083 10 1083 1092 VGSASLSSGR PRIDE
SETBP_HUMAN_1109 15 1109 1123 ILGTHDNLSGLFAGK PRIDE
SETBP_HUMAN_1142 8 1142 1149 ELPLVSEK PRIDE
SETBP_HUMAN_1288 9 1288 1296 VDQTAVHSK PRIDE
SETBP_HUMAN_1401 4 1401 1404 GRPR PRIDE
SETBP_HUMAN_1424 7 1424 1430 CIDLPSK PRIDE
SETBP_HUMAN_331 17 331 347 QNVSSASNPENDSSHVR PRIDE
SETBP_HUMAN_354 10 354 363 APSLDPTNHK PRIDE
SETBP_HUMAN_382 15 382 396 ALASGITMSSEVVNR PRIDE
SETBP_HUMAN_464 8 464 471 LPEIQHPK PRIDE
SETBP_HUMAN_478 13 478 490 WTCSKPKPSTMLR PRIDE
SETBP_HUMAN_491 9 491 499 EAVMATSDK PRIDE
SETBP_HUMAN_539 23 539 561 QPLLTVETIHEGTSTSPVSPISR PRIDE
SETBP_HUMAN_601 6 601 606 LGVLDK PRIDE
SETBP_HUMAN_622 16 622 637 NILNQILSCSSSVALK PRIDE
SETBP_HUMAN_640 15 640 654 APPETSPGAAAIESK PRIDE

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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