AutismKB 2.0

Annotation Detail for BUB1


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Basic Information Top
Gene Symbol:BUB1 ( BUB1A,BUB1L,hBUB1 )
Gene Full Name: budding uninhibited by benzimidazoles 1 homolog (yeast)
Band: 2q13
Quick LinksEntrez ID:699; OMIM: 602452; Uniprot ID:BUB1_HUMAN; ENSEMBL ID: ENSG00000169679; HGNC ID: 1148
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 body8 / 70761113
blastocyst15 / 62319240
fetus23 / 56401240
neonate4 / 31097128
infant0 / 236200 
juvenile6 / 55556107
adult57 / 193912129
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor7 / 9417874
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor5 / 11424643
esophageal tumor1 / 1729057
gastrointestinal tumor8 / 11936967
germ cell tumor33 / 263845125
glioma2 / 10688318
head and neck tumor3 / 13630222
kidney tumor3 / 6895943
leukemia11 / 95842114
liver tumor9 / 9635993
lung tumor0 / 1031270 
lymphoma4 / 7175555
non-neoplasia1 / 9725010
normal108 / 336030732
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor4 / 12494932
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites4 / 4001599
bladder2 / 2975767
blood7 / 12347856
bone1 / 7165513
bone marrow8 / 48801163
brain23 / 110098920
cervix1 / 4817120
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue32 / 215722148
esophagus1 / 2020949
eye1 / 2110544
heart0 / 896260 
intestine10 / 23447242
kidney9 / 21177742
larynx0 / 241450 
liver11 / 20774352
lung5 / 33697414
lymph4 / 4427090
lymph node4 / 9161043
mammary gland11 / 15327171
mouth3 / 6705244
muscle3 / 10771527
nerve0 / 157680 
ovary2 / 10205119
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta2 / 2808257
prostate1 / 1893455
salivary gland0 / 201550 
skin8 / 21057437
spleen0 / 539520 
stomach1 / 9661910
testis110 / 330442332
thymus30 / 81131369
thyroid0 / 474730 
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus7 / 23287830
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 215509_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts127.2
Adipocyte4.4
AdrenalCortex4.85
Adrenalgland3.95
Amygdala4.55
Appendix5.2
AtrioventricularNode4.3
BDCA4+_DentriticCells5.55
Bonemarrow5.65
BronchialEpithelialCells4.15
CD105+_Endothelial5.85
CD14+_Monocytes4.85
CD19+_BCells(neg._sel.)4.6
CD33+_Myeloid5.65
CD34+6.05
CD4+_Tcells4.65
CD56+_NKCells4.9
CD71+_EarlyErythroid11.45
CD8+_Tcells4.1
CardiacMyocytes8.3
Caudatenucleus4
Cerebellum3.65
CerebellumPeduncles5.4
CiliaryGanglion7.3
CingulateCortex4.55
Colorectaladenocarcinoma4.45
DorsalRootGanglion4.5
FetalThyroid4.35
Fetalbrain4.35
Fetalliver5.4
Fetallung3.45
GlobusPallidus3.35
Heart6.15
Hypothalamus4.7
Kidney3.75
Leukemia_chronicMyelogenousK-5625.6
Leukemia_promyelocytic-HL-603.95
Leukemialymphoblastic(MOLT-4)5.85
Liver7.25
Lung4.85
Lymphnode3.85
Lymphoma_burkitts(Daudi)6.2
Lymphoma_burkitts(Raji)6.35
MedullaOblongata4
OccipitalLobe4.05
OlfactoryBulb3.55
Ovary3.05
Pancreas3.6
PancreaticIslet4.75
ParietalLobe4.8
Pituitary5.2
Placenta4.55
Pons4.3
PrefrontalCortex5.3
Prostate5.15
Salivarygland3.6
SkeletalMuscle5.6
Skin7.1
SmoothMuscle5
Spinalcord4.65
SubthalamicNucleus4.15
SuperiorCervicalGanglion5.95
TemporalLobe4.2
Testis3.8
TestisGermCell3.65
TestisIntersitial3.75
TestisLeydigCell4.95
TestisSeminiferousTubule4.1
Thalamus4.55
Thymus3.55
Thyroid5.4
Tongue4.7
Tonsil4.55
Trachea3.7
TrigeminalGanglion4.55
Uterus3.5
UterusCorpus4.5
WholeBlood4.85
Wholebrain3.7
colon4.5
pineal_day5.32
pineal_night5.26
retina5.3
small_intestine4.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14384_PI416261804
  • 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
Amygdala2.28 ± 1.04
Basal Forebrain1.54 ± 0.18
Basal Part of Pons1.34 ± 0.34
Cerebellar Cortex1.44 ± 0.65
Cerebellar Nuclei2.1 ± 0.78
Claustrum2.42 ± 0.87
Epithalamus1.37 ± 0.8
Frontal Lobe1.57 ± 0.73
Globus Pallidus2.3 ± 0.32
Hypothalamus1.67 ± 0.77
Insula1.4 ± 0.45
Limbic Lobe1.71 ± 0.66
Mesencephalon1.91 ± 0.75
Myelencephalon1.67 ± 0.66
Occipital Lobe1.73 ± 0.75
Parietal Lobe1.59 ± 0.67
Pontine Tegmentum1.75 ± 0.83
Striatum2.08 ± 0.68
Subthalamus1.85 ± 0.51
Temporal Lobe1.53 ± 0.64
Thalamus1.6 ± 0.62
White Matter1.88 ± 0.2
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Bub1CBCerebellum2.34
4.53
Bub1CTXCerebral cortex1.33
1.12
Bub1HIPHippocampal region3.18
3.1
Bub1HPFHippocampal formation3.62
3.29
Bub1HYHypothalamus1.82
2.24
Bub1LSXLateral septal complex0.6
0.75
Bub1MBMidbrain0.83
1.59
Bub1MYMedulla1.89
3.16
Bub1OLFOlfactory bulb7.62
5.88
Bub1PPons2.2
5.11
Bub1PALPallidum1.64
1.87
Bub1RHPRetrohippocampal region4.11
3.1
Bub1sAMYStriatum-like amygdalar nuclei10.81
7.47
Bub1STRStriatum2.98
2.37
Bub1STRdStriatum dorsal region1.51
1.34
Bub1STRvStriatum ventral region5.33
3.88
Bub1THThalamus1.22
1.14
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00063839 17 337 353 APCLPVTYQQTPVNMEK 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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