AutismKB 2.0

Annotation Detail for BTBD2


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Basic Information Top
Gene Symbol:BTBD2 ( - )
Gene Full Name: BTB (POZ) domain containing 2
Band: 19p13.3
Quick LinksEntrez ID:55643; OMIM: 608531; Uniprot ID:BTBD2_HUMAN; ENSEMBL ID: ENSG00000133243; HGNC ID: 15504
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 body3 / 7076142
blastocyst3 / 6231948
fetus24 / 56401242
neonate0 / 310970 
infant2 / 2362084
juvenile3 / 5555653
adult100 / 193912151
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor4 / 9417842
cervical tumor6 / 34366174
chondrosarcoma8 / 8282396
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor21 / 119369175
germ cell tumor23 / 26384587
glioma24 / 106883224
head and neck tumor15 / 136302110
kidney tumor9 / 68959130
leukemia8 / 9584283
liver tumor5 / 9635951
lung tumor16 / 103127155
lymphoma7 / 7175597
non-neoplasia4 / 9725041
normal138 / 336030741
ovarian tumor8 / 76682104
pancreatic tumor11 / 104616105
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer26 / 102680253
retinoblastoma3 / 4635664
skin tumor22 / 124949176
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites13 / 40015324
bladder1 / 2975733
blood8 / 12347864
bone8 / 71655111
bone marrow1 / 4880120
brain66 / 110098959
cervix6 / 48171124
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue11 / 21572250
esophagus0 / 202090 
eye17 / 21105480
heart6 / 8962666
intestine13 / 23447255
kidney12 / 21177756
larynx2 / 2414582
liver5 / 20774324
lung24 / 33697471
lymph6 / 44270135
lymph node4 / 9161043
mammary gland5 / 15327132
mouth9 / 67052134
muscle1 / 1077159
nerve2 / 15768126
ovary19 / 102051186
pancreas12 / 21481255
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland2 / 16585120
placenta10 / 28082535
prostate32 / 189345169
salivary gland3 / 20155148
skin22 / 210574104
spleen1 / 5395218
stomach7 / 9661972
testis5 / 33044215
thymus2 / 8113124
thyroid2 / 4747342
tonsil3 / 16999176
trachea1 / 5241319
umbilical cord0 / 136800 
uterus9 / 23287838
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207722_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts61.85
Adipocyte33.1
AdrenalCortex32.1
Adrenalgland27.5
Amygdala78.35
Appendix31.05
AtrioventricularNode17.45
BDCA4+_DentriticCells37.9
Bonemarrow32.05
BronchialEpithelialCells32.9
CD105+_Endothelial33.45
CD14+_Monocytes35.6
CD19+_BCells(neg._sel.)56.35
CD33+_Myeloid45.85
CD34+50.6
CD4+_Tcells36.8
CD56+_NKCells49.35
CD71+_EarlyErythroid18.3
CD8+_Tcells34.1
CardiacMyocytes40.75
Caudatenucleus29.7
Cerebellum41.05
CerebellumPeduncles37.5
CiliaryGanglion21.5
CingulateCortex38.8
Colorectaladenocarcinoma45.6
DorsalRootGanglion17.55
FetalThyroid32.1
Fetalbrain41.85
Fetalliver28.25
Fetallung27.9
GlobusPallidus21.3
Heart56.55
Hypothalamus36.85
Kidney28.7
Leukemia_chronicMyelogenousK-56234.7
Leukemia_promyelocytic-HL-6029.6
Leukemialymphoblastic(MOLT-4)26.9
Liver49.95
Lung39.1
Lymphnode25.55
Lymphoma_burkitts(Daudi)40
Lymphoma_burkitts(Raji)70.45
MedullaOblongata38.65
OccipitalLobe29.95
OlfactoryBulb26.1
Ovary21.55
Pancreas24.3
PancreaticIslet27.15
ParietalLobe36.15
Pituitary37.7
Placenta34.85
Pons31.95
PrefrontalCortex181.95
Prostate49.5
Salivarygland23.95
SkeletalMuscle36.35
Skin23.7
SmoothMuscle39.9
Spinalcord35.25
SubthalamicNucleus29.75
SuperiorCervicalGanglion36.25
TemporalLobe45
Testis28.65
TestisGermCell28.1
TestisIntersitial26.35
TestisLeydigCell30.7
TestisSeminiferousTubule27.35
Thalamus39.45
Thymus26.6
Thyroid67.95
Tongue31.7
Tonsil30.2
Trachea27.65
TrigeminalGanglion30.8
Uterus27.45
UterusCorpus28.95
WholeBlood36.8
Wholebrain55.15
colon33.3
pineal_day69.46
pineal_night49.6
retina48.825
small_intestine32.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6919_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
Amygdala4.43 ± 0.47
Basal Forebrain4.14 ± 0.22
Basal Part of Pons4.8 ± 0.32
Cerebellar Cortex4.5 ± 0.58
Cerebellar Nuclei3.87 ± 0.71
Claustrum4.05 ± 0.92
Epithalamus3.81 ± 0.67
Frontal Lobe4.49 ± 0.52
Globus Pallidus3.6 ± 0.54
Hypothalamus3.69 ± 0.5
Insula4.48 ± 0.48
Limbic Lobe4.63 ± 0.48
Mesencephalon4.33 ± 0.59
Myelencephalon4.37 ± 0.64
Occipital Lobe4.06 ± 0.54
Parietal Lobe4.33 ± 0.53
Pontine Tegmentum4.18 ± 0.56
Striatum4.24 ± 0.42
Subthalamus3.7 ± 0.44
Temporal Lobe4.53 ± 0.55
Thalamus4.36 ± 0.52
White Matter2.51 ± 0.31
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Btbd2CBCerebellum23.64
28.78
Btbd2CTXCerebral cortex31.42
22.65
Btbd2HIPHippocampal region23.96
26.98
Btbd2HPFHippocampal formation21.46
21.04
Btbd2HYHypothalamus8.68
6.34
Btbd2LSXLateral septal complex1.34
4.53
Btbd2MBMidbrain20.7
18.55
Btbd2MYMedulla20.87
22.13
Btbd2OLFOlfactory bulb26.14
20.61
Btbd2PPons16.21
17.25
Btbd2PALPallidum16.09
13.57
Btbd2RHPRetrohippocampal region16.37
11.47
Btbd2sAMYStriatum-like amygdalar nuclei11.42
7.69
Btbd2STRStriatum12.23
8.34
Btbd2STRdStriatum dorsal region12.47
8.57
Btbd2STRvStriatum ventral region14.34
8.94
Btbd2THThalamus32.6
26.06
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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