AutismKB 2.0

Annotation Detail for ABTB1


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Basic Information Top
Gene Symbol:ABTB1 ( BPOZ,BTB3,EF1ABP,MGC20585 )
Gene Full Name: ankyrin repeat and BTB (POZ) domain containing 1
Band: 3q21.3
Quick LinksEntrez ID:80325; OMIM: 608308; Uniprot ID:ABTB1_HUMAN; ENSEMBL ID: ENSG00000114626; HGNC ID: 18275
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 
blastocyst1 / 6231916
fetus26 / 56401246
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult131 / 193912167
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor9 / 26384534
glioma7 / 10688365
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia17 / 95842177
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal194 / 336030757
ovarian tumor2 / 7668226
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood15 / 123478121
bone3 / 7165541
bone marrow2 / 4880140
brain37 / 110098933
cervix2 / 4817141
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye18 / 21105485
heart6 / 8962666
intestine15 / 23447263
kidney28 / 211777132
larynx0 / 241450 
liver2 / 2077439
lung22 / 33697465
lymph0 / 442700 
lymph node13 / 91610141
mammary gland10 / 15327165
mouth0 / 670520 
muscle2 / 10771518
nerve2 / 15768126
ovary2 / 10205119
pancreas23 / 214812107
parathyroid4 / 20539194
pharynx0 / 413280 
pituitary gland3 / 16585180
placenta15 / 28082553
prostate9 / 18934547
salivary gland0 / 201550 
skin1 / 2105744
spleen1 / 5395218
stomach2 / 9661920
testis3 / 3304429
thymus4 / 8113149
thyroid0 / 474730 
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P200297
  • 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
Amygdala4.29 ± 0.86
Basal Forebrain4.42 ± 0.57
Basal Part of Pons5.28 ± 0.68
Cerebellar Cortex5.23 ± 0.54
Cerebellar Nuclei4.22 ± 0.57
Claustrum3.64 ± 0.9
Epithalamus4.32 ± 0.92
Frontal Lobe4.84 ± 0.72
Globus Pallidus3.25 ± 0.32
Hypothalamus4.42 ± 0.6
Insula4.61 ± 0.53
Limbic Lobe4.21 ± 0.88
Mesencephalon4.3 ± 0.89
Myelencephalon4.48 ± 0.73
Occipital Lobe3.94 ± 0.88
Parietal Lobe4.6 ± 0.75
Pontine Tegmentum4.35 ± 0.74
Striatum3.66 ± 0.71
Subthalamus4 ± 0.75
Temporal Lobe4.63 ± 0.68
Thalamus4.53 ± 0.65
White Matter4.08 ± 0.55
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Abtb1CBCerebellum41.94
30.9
Abtb1CTXCerebral cortex31.8
21.56
Abtb1HIPHippocampal region50.42
28.08
Abtb1HPFHippocampal formation50.02
31.76
Abtb1HYHypothalamus14.83
9.6
Abtb1LSXLateral septal complex2.8
1.61
Abtb1MBMidbrain11.28
8.08
Abtb1MYMedulla37.09
28.77
Abtb1OLFOlfactory bulb55.74
35.47
Abtb1PPons30.44
21.9
Abtb1PALPallidum11.4
7.81
Abtb1RHPRetrohippocampal region49.1
36.16
Abtb1sAMYStriatum-like amygdalar nuclei23.91
14.22
Abtb1STRStriatum12.35
7.07
Abtb1STRdStriatum dorsal region6.88
4.02
Abtb1STRvStriatum ventral region30.32
15.58
Abtb1THThalamus10.06
6.19
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