AutismKB 2.0

Annotation Detail for BBX


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Basic Information Top
Gene Symbol:BBX ( HBP2,HSPC339,MDS001 )
Gene Full Name: bobby sox homolog (Drosophila)
Band: 3q13.12
Quick LinksEntrez ID:56987; OMIM: NA; Uniprot ID:BBX_HUMAN; ENSEMBL ID: ENSG00000114439; HGNC ID: 14422
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 body6 / 7076184
blastocyst2 / 6231932
fetus62 / 564012109
neonate2 / 3109764
infant1 / 2362042
juvenile4 / 5555671
adult145 / 193912174
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma1 / 1747557
breast (mammary gland) tumor14 / 94178148
cervical tumor7 / 34366203
chondrosarcoma11 / 82823132
colorectal tumor7 / 11424661
esophageal tumor2 / 17290115
gastrointestinal tumor4 / 11936933
germ cell tumor22 / 26384583
glioma3 / 10688328
head and neck tumor17 / 136302124
kidney tumor4 / 6895958
leukemia6 / 9584262
liver tumor5 / 9635951
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia11 / 97250113
normal326 / 336030797
ovarian tumor3 / 7668239
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor9 / 12494972
soft tissue/muscle tissue tumor11 / 12519187
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland7 / 33197210
ascites1 / 4001524
bladder1 / 2975733
blood8 / 12347864
bone8 / 71655111
bone marrow2 / 4880140
brain59 / 110098953
cervix7 / 48171145
connective tissue18 / 149255120
ear2 / 16212123
embryonic tissue15 / 21572269
esophagus2 / 2020998
eye5 / 21105423
heart2 / 8962622
intestine14 / 23447259
kidney27 / 211777127
larynx1 / 2414541
liver17 / 20774381
lung36 / 336974106
lymph0 / 442700 
lymph node22 / 91610240
mammary gland24 / 153271156
mouth12 / 67052178
muscle6 / 10771555
nerve1 / 1576863
ovary6 / 10205158
pancreas17 / 21481279
parathyroid1 / 2053948
pharynx6 / 41328145
pituitary gland3 / 16585180
placenta23 / 28082581
prostate13 / 18934568
salivary gland0 / 201550 
skin17 / 21057480
spleen2 / 5395237
stomach3 / 9661931
testis53 / 330442160
thymus2 / 8113124
thyroid5 / 47473105
tonsil5 / 16999294
trachea6 / 52413114
umbilical cord2 / 13680146
uterus13 / 23287855
vascular7 / 51780135
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213016_at
Cell line Expression level Expression bar
721_B_lymphoblasts49.35
Adipocyte11.15
AdrenalCortex27.3
Adrenalgland76.65
Amygdala42.65
Appendix25.45
AtrioventricularNode13.1
BDCA4+_DentriticCells138.45
Bonemarrow8.65
BronchialEpithelialCells29.4
CD105+_Endothelial14.65
CD14+_Monocytes40.75
CD19+_BCells(neg._sel.)282.75
CD33+_Myeloid114.7
CD34+242.15
CD4+_Tcells117
CD56+_NKCells175.35
CD71+_EarlyErythroid14.25
CD8+_Tcells167.2
CardiacMyocytes11.9
Caudatenucleus20.25
Cerebellum12.05
CerebellumPeduncles10.85
CiliaryGanglion14.15
CingulateCortex16.75
Colorectaladenocarcinoma15.5
DorsalRootGanglion13.3
FetalThyroid16
Fetalbrain8.6
Fetalliver17.7
Fetallung17.5
GlobusPallidus8.9
Heart13.2
Hypothalamus48.25
Kidney15
Leukemia_chronicMyelogenousK-5628
Leukemia_promyelocytic-HL-6029.35
Leukemialymphoblastic(MOLT-4)12.15
Liver14.2
Lung13.4
Lymphnode27.8
Lymphoma_burkitts(Daudi)19.1
Lymphoma_burkitts(Raji)80.65
MedullaOblongata14.05
OccipitalLobe23.4
OlfactoryBulb33.6
Ovary10.95
Pancreas4.45
PancreaticIslet13.1
ParietalLobe21.45
Pituitary123.6
Placenta19.2
Pons13.8
PrefrontalCortex114
Prostate195.45
Salivarygland12.65
SkeletalMuscle14.9
Skin15.4
SmoothMuscle15
Spinalcord53.05
SubthalamicNucleus8.45
SuperiorCervicalGanglion17.85
TemporalLobe13.1
Testis40.45
TestisGermCell301.45
TestisIntersitial95.5
TestisLeydigCell27.4
TestisSeminiferousTubule64.2
Thalamus19.6
Thymus24.65
Thyroid99
Tongue14.45
Tonsil12.55
Trachea30.85
TrigeminalGanglion13.2
Uterus136.85
UterusCorpus11.5
WholeBlood42.2
Wholebrain12.2
colon24.35
pineal_day428.98
pineal_night460.8
retina57.2
small_intestine19.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P121356
  • 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
Amygdala9.1 ± 0.34
Basal Forebrain9.76 ± 0.27
Basal Part of Pons9.03 ± 0.28
Cerebellar Cortex9.25 ± 0.12
Cerebellar Nuclei9.84 ± 0.35
Claustrum9.2 ± 0.35
Epithalamus9.9 ± 0.25
Frontal Lobe9.32 ± 0.4
Globus Pallidus10.42 ± 0.21
Hypothalamus9.53 ± 0.19
Insula9.16 ± 0.19
Limbic Lobe9.18 ± 0.35
Mesencephalon9.61 ± 0.39
Myelencephalon9.48 ± 0.39
Occipital Lobe9.61 ± 0.33
Parietal Lobe9.31 ± 0.37
Pontine Tegmentum9.51 ± 0.28
Striatum9.96 ± 0.35
Subthalamus9.46 ± 0.16
Temporal Lobe9.22 ± 0.28
Thalamus9.53 ± 0.26
White Matter11.14 ± 0.26
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
BBX_HUMAN_9 12 9 20 DHSAEGEGVGKR 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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