AutismKB 2.0

Annotation Detail for BBOX1


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Basic Information Top
Gene Symbol:BBOX1 ( BBH,BBOX,G-BBH,gamma-BBH )
Gene Full Name: butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1
Band: 11p14.2
Quick LinksEntrez ID:8424; OMIM: 603312; Uniprot ID:BODG_HUMAN; ENSEMBL ID: ENSG00000129151; HGNC ID: 964
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 body0 / 707610 
blastocyst0 / 623190 
fetus7 / 56401212
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult16 / 19391218
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal103 / 336030730
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
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 
brain30 / 110098927
cervix0 / 481710 
connective tissue0 / 1492550 
ear2 / 16212123
embryonic tissue0 / 2157220 
esophagus1 / 2020949
eye0 / 2110540 
heart2 / 8962622
intestine2 / 2344728
kidney52 / 211777245
larynx0 / 241450 
liver4 / 20774319
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary3 / 10205129
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis2 / 3304426
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205363_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.95
Adipocyte5.6
AdrenalCortex6.8
Adrenalgland5.1
Amygdala10.8
Appendix6.55
AtrioventricularNode5.15
BDCA4+_DentriticCells5.9
Bonemarrow6.35
BronchialEpithelialCells5.6
CD105+_Endothelial5.7
CD14+_Monocytes6.1
CD19+_BCells(neg._sel.)6.1
CD33+_Myeloid7.25
CD34+6.9
CD4+_Tcells6.05
CD56+_NKCells6.55
CD71+_EarlyErythroid5.5
CD8+_Tcells5.4
CardiacMyocytes8.25
Caudatenucleus8.9
Cerebellum5.05
CerebellumPeduncles7.7
CiliaryGanglion4.55
CingulateCortex10.6
Colorectaladenocarcinoma5.9
DorsalRootGanglion4.9
FetalThyroid10.2
Fetalbrain6.4
Fetalliver6.35
Fetallung4.6
GlobusPallidus4.7
Heart10.25
Hypothalamus37.85
Kidney663
Leukemia_chronicMyelogenousK-5625.1
Leukemia_promyelocytic-HL-604.95
Leukemialymphoblastic(MOLT-4)4.45
Liver10.6
Lung6.25
Lymphnode4.85
Lymphoma_burkitts(Daudi)7.35
Lymphoma_burkitts(Raji)8.7
MedullaOblongata5.65
OccipitalLobe6.2
OlfactoryBulb9.75
Ovary4.15
Pancreas4.9
PancreaticIslet6.35
ParietalLobe7.45
Pituitary7.05
Placenta5.8
Pons6.25
PrefrontalCortex15.05
Prostate6.7
Salivarygland4.85
SkeletalMuscle11.75
Skin8.6
SmoothMuscle6.45
Spinalcord59.75
SubthalamicNucleus5.65
SuperiorCervicalGanglion7.55
TemporalLobe5.5
Testis4.8
TestisGermCell4.6
TestisIntersitial5
TestisLeydigCell5.95
TestisSeminiferousTubule5.05
Thalamus16.2
Thymus4.4
Thyroid9.15
Tongue16
Tonsil5.75
Trachea4.9
TrigeminalGanglion7.25
Uterus4.6
UterusCorpus5.7
WholeBlood6.35
Wholebrain12.8
colon5.95
pineal_day18.14
pineal_night7.4
retina12.3
small_intestine5.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13989_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
Amygdala5.03 ± 0.57
Basal Forebrain5.19 ± 0.24
Basal Part of Pons4.14 ± 0.66
Cerebellar Cortex4.39 ± 0.36
Cerebellar Nuclei4.67 ± 0.64
Claustrum4.34 ± 0.65
Epithalamus6.45 ± 0.48
Frontal Lobe4.87 ± 0.58
Globus Pallidus6.79 ± 0.47
Hypothalamus5.25 ± 0.38
Insula4.75 ± 0.4
Limbic Lobe4.82 ± 0.68
Mesencephalon5.29 ± 0.61
Myelencephalon5.12 ± 0.66
Occipital Lobe5.34 ± 0.58
Parietal Lobe5.1 ± 0.57
Pontine Tegmentum5.17 ± 0.52
Striatum5.72 ± 0.46
Subthalamus4.66 ± 0.6
Temporal Lobe4.84 ± 0.53
Thalamus5.31 ± 0.53
White Matter3.99 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Bbox1CBCerebellum3.18
5.08
Bbox1CTXCerebral cortex14.77
9.66
Bbox1HIPHippocampal region7.79
7.14
Bbox1HPFHippocampal formation14.05
11.52
Bbox1HYHypothalamus12.09
9.63
Bbox1LSXLateral septal complex18.92
14.13
Bbox1MBMidbrain6.53
6.64
Bbox1MYMedulla13.19
12.66
Bbox1OLFOlfactory bulb20.73
16.42
Bbox1PPons15.81
17.82
Bbox1PALPallidum8.97
6.33
Bbox1RHPRetrohippocampal region26.97
19.08
Bbox1sAMYStriatum-like amygdalar nuclei10.32
7.53
Bbox1STRStriatum10
7.31
Bbox1STRdStriatum dorsal region8.46
5.63
Bbox1STRvStriatum ventral region11.79
9.93
Bbox1THThalamus6.5
5.98
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


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