AutismKB 2.0

Annotation Detail for ABTB2


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Basic Information Top
Gene Symbol:ABTB2 ( DKFZp586C1619 )
Gene Full Name: ankyrin repeat and BTB (POZ) domain containing 2
Band: 11p13
Quick LinksEntrez ID:25841; OMIM: NA; Uniprot ID:A8K6S9_HUMAN; ENSEMBL ID: ENSG00000166016; HGNC ID: 23842
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 body1 / 7076114
blastocyst1 / 6231916
fetus15 / 56401226
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult33 / 193912117
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 tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor0 / 2638450 
glioma5 / 10688346
head and neck tumor2 / 13630214
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal61 / 336030718
ovarian tumor3 / 7668239
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor3 / 12519123
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 
ascites2 / 4001549
bladder0 / 297570 
blood0 / 1234780 
bone3 / 7165541
bone marrow0 / 488010 
brain12 / 110098910
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye8 / 21105437
heart1 / 8962611
intestine4 / 23447217
kidney10 / 21177747
larynx0 / 241450 
liver1 / 2077434
lung7 / 33697420
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth2 / 6705229
muscle1 / 1077159
nerve1 / 1576863
ovary3 / 10205129
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta3 / 28082510
prostate6 / 18934531
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach2 / 9661920
testis7 / 33044221
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus6 / 23287825
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213497_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.25
Adipocyte4.5
AdrenalCortex9
Adrenalgland4.85
Amygdala4.95
Appendix4.85
AtrioventricularNode4
BDCA4+_DentriticCells5.05
Bonemarrow4.5
BronchialEpithelialCells4.5
CD105+_Endothelial4.55
CD14+_Monocytes4.8
CD19+_BCells(neg._sel.)4.9
CD33+_Myeloid5.85
CD34+5.6
CD4+_Tcells4.7
CD56+_NKCells5.4
CD71+_EarlyErythroid4.25
CD8+_Tcells4.35
CardiacMyocytes6.15
Caudatenucleus4.05
Cerebellum3.85
CerebellumPeduncles5.6
CiliaryGanglion3.15
CingulateCortex5.7
Colorectaladenocarcinoma4.6
DorsalRootGanglion3.5
FetalThyroid5.5
Fetalbrain4.6
Fetalliver3.9
Fetallung3.8
GlobusPallidus3.25
Heart6.1
Hypothalamus5
Kidney3.65
Leukemia_chronicMyelogenousK-5624.1
Leukemia_promyelocytic-HL-604.05
Leukemialymphoblastic(MOLT-4)3.7
Liver6.1
Lung5.05
Lymphnode3.95
Lymphoma_burkitts(Daudi)5.8
Lymphoma_burkitts(Raji)6.35
MedullaOblongata4.15
OccipitalLobe4.1
OlfactoryBulb3.65
Ovary3.05
Pancreas3.7
PancreaticIslet4.9
ParietalLobe4.75
Pituitary5.35
Placenta15.15
Pons5.2
PrefrontalCortex5.65
Prostate5.35
Salivarygland3.6
SkeletalMuscle6
Skin3.55
SmoothMuscle5.85
Spinalcord6.25
SubthalamicNucleus4.1
SuperiorCervicalGanglion5.2
TemporalLobe4.15
Testis3.95
TestisGermCell4.05
TestisIntersitial3.85
TestisLeydigCell4.5
TestisSeminiferousTubule3.9
Thalamus6.35
Thymus3.6
Thyroid5.7
Tongue5.25
Tonsil4.45
Trachea3.7
TrigeminalGanglion5.6
Uterus3.75
UterusCorpus4.35
WholeBlood4.85
Wholebrain4
colon4.3
pineal_day5.5
pineal_night5.54
retina6.075
small_intestine4.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6330_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
Amygdala2.3 ± 0.85
Basal Forebrain2.12 ± 0.45
Basal Part of Pons2.14 ± 0.54
Cerebellar Cortex2.18 ± 0.54
Cerebellar Nuclei3.31 ± 0.62
Claustrum2.72 ± 0.88
Epithalamus1.85 ± 0.74
Frontal Lobe1.91 ± 0.69
Globus Pallidus3.61 ± 0.45
Hypothalamus1.96 ± 0.89
Insula1.87 ± 0.72
Limbic Lobe1.95 ± 0.9
Mesencephalon2.33 ± 0.83
Myelencephalon2.17 ± 0.8
Occipital Lobe2.74 ± 1.12
Parietal Lobe2.15 ± 0.9
Pontine Tegmentum2.3 ± 0.86
Striatum2.27 ± 0.96
Subthalamus1.99 ± 0.56
Temporal Lobe1.95 ± 0.68
Thalamus2.44 ± 0.58
White Matter4.04 ± 1.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Abtb2CBCerebellum7.83
8.99
Abtb2CTXCerebral cortex3.98
3.51
Abtb2HIPHippocampal region3.46
3.49
Abtb2HPFHippocampal formation3.4
3.2
Abtb2HYHypothalamus1.61
1.6
Abtb2LSXLateral septal complex1.17
1.29
Abtb2MBMidbrain1.32
1.57
Abtb2MYMedulla12.24
15.38
Abtb2OLFOlfactory bulb15.95
14.01
Abtb2PPons3.76
4.38
Abtb2PALPallidum2.97
2.6
Abtb2RHPRetrohippocampal region3.21
2.75
Abtb2sAMYStriatum-like amygdalar nuclei1.72
1.66
Abtb2STRStriatum2.79
2.7
Abtb2STRdStriatum dorsal region2.7
2.94
Abtb2STRvStriatum ventral region4.2
3.02
Abtb2THThalamus1.36
1.26
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