AutismKB 2.0

Annotation Detail for BAZ2B


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Basic Information Top
Gene Symbol:BAZ2B ( DKFZp434H071,DKFZp762I0516,FLJ45644,WALp4 )
Gene Full Name: bromodomain adjacent to zinc finger domain, 2B
Band: 2q24.2
Quick LinksEntrez ID:29994; OMIM: 605683; Uniprot ID:BAZ2B_HUMAN; ENSEMBL ID: ENSG00000123636; HGNC ID: 963
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
fetus30 / 56401253
neonate1 / 3109732
infant0 / 236200 
juvenile1 / 5555617
adult119 / 193912161
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 tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor10 / 26384537
glioma7 / 10688365
head and neck tumor9 / 13630266
kidney tumor3 / 6895943
leukemia4 / 9584241
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal187 / 336030755
ovarian tumor10 / 76682130
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites1 / 4001524
bladder2 / 2975767
blood5 / 12347840
bone3 / 7165541
bone marrow1 / 4880120
brain40 / 110098936
cervix1 / 4817120
connective tissue1 / 1492556
ear1 / 1621261
embryonic tissue13 / 21572260
esophagus0 / 202090 
eye18 / 21105485
heart2 / 8962622
intestine6 / 23447225
kidney7 / 21177733
larynx0 / 241450 
liver8 / 20774338
lung7 / 33697420
lymph0 / 442700 
lymph node1 / 9161010
mammary gland10 / 15327165
mouth8 / 67052119
muscle13 / 107715120
nerve1 / 1576863
ovary13 / 102051127
pancreas16 / 21481274
parathyroid1 / 2053948
pharynx4 / 4132896
pituitary gland3 / 16585180
placenta18 / 28082564
prostate10 / 18934552
salivary gland0 / 201550 
skin3 / 21057414
spleen2 / 5395237
stomach3 / 9661931
testis23 / 33044269
thymus4 / 8113149
thyroid1 / 4747321
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus14 / 23287860
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203080_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts11.6
Adipocyte11
AdrenalCortex22.05
Adrenalgland10
Amygdala29.5
Appendix19.4
AtrioventricularNode10
BDCA4+_DentriticCells53.25
Bonemarrow11.35
BronchialEpithelialCells11.95
CD105+_Endothelial11.7
CD14+_Monocytes58.95
CD19+_BCells(neg._sel.)15.55
CD33+_Myeloid84.1
CD34+67.2
CD4+_Tcells13.55
CD56+_NKCells15.95
CD71+_EarlyErythroid10.85
CD8+_Tcells27.9
CardiacMyocytes14.95
Caudatenucleus19.7
Cerebellum9.35
CerebellumPeduncles13
CiliaryGanglion9.5
CingulateCortex14.75
Colorectaladenocarcinoma10.95
DorsalRootGanglion10.95
FetalThyroid15.8
Fetalbrain47.25
Fetalliver10.15
Fetallung44.3
GlobusPallidus9.65
Heart14.7
Hypothalamus79.1
Kidney9.4
Leukemia_chronicMyelogenousK-56210.6
Leukemia_promyelocytic-HL-608.95
Leukemialymphoblastic(MOLT-4)7.95
Liver15.4
Lung12.15
Lymphnode15.65
Lymphoma_burkitts(Daudi)14.45
Lymphoma_burkitts(Raji)16.3
MedullaOblongata29.4
OccipitalLobe21.65
OlfactoryBulb57.05
Ovary12.6
Pancreas11.65
PancreaticIslet28.3
ParietalLobe17.15
Pituitary70.75
Placenta15.15
Pons13.3
PrefrontalCortex141.75
Prostate13.65
Salivarygland24.1
SkeletalMuscle14.95
Skin10.25
SmoothMuscle13
Spinalcord90.5
SubthalamicNucleus11.1
SuperiorCervicalGanglion13.4
TemporalLobe10.6
Testis12.45
TestisGermCell58.65
TestisIntersitial14.7
TestisLeydigCell38.3
TestisSeminiferousTubule29.3
Thalamus19.7
Thymus8.95
Thyroid47.6
Tongue13.5
Tonsil11.25
Trachea20.2
TrigeminalGanglion16.6
Uterus79.8
UterusCorpus13.6
WholeBlood180.8
Wholebrain9.55
colon12.2
pineal_day370.26
pineal_night150.18
retina48
small_intestine13.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6319_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
Amygdala7.24 ± 0.44
Basal Forebrain7.85 ± 0.27
Basal Part of Pons7.22 ± 0.28
Cerebellar Cortex7.66 ± 0.14
Cerebellar Nuclei7.68 ± 0.17
Claustrum7.3 ± 0.42
Epithalamus8.01 ± 0.21
Frontal Lobe7.33 ± 0.4
Globus Pallidus8.12 ± 0.36
Hypothalamus7.48 ± 0.34
Insula7.2 ± 0.18
Limbic Lobe7.28 ± 0.36
Mesencephalon7.55 ± 0.34
Myelencephalon7.45 ± 0.41
Occipital Lobe7.55 ± 0.33
Parietal Lobe7.34 ± 0.37
Pontine Tegmentum7.47 ± 0.24
Striatum7.76 ± 0.58
Subthalamus6.86 ± 0.76
Temporal Lobe7.26 ± 0.3
Thalamus7.37 ± 0.34
White Matter8.92 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Baz2bCBCerebellum5.68
5.66
Baz2bCTXCerebral cortex1.6
1.05
Baz2bHIPHippocampal region2.05
1.71
Baz2bHPFHippocampal formation2.18
1.72
Baz2bHYHypothalamus2.18
2.43
Baz2bLSXLateral septal complex0.56
0.31
Baz2bMBMidbrain1.43
1.25
Baz2bMYMedulla10.52
10.35
Baz2bOLFOlfactory bulb4.08
2.96
Baz2bPPons5.56
6.11
Baz2bPALPallidum2.76
2.21
Baz2bRHPRetrohippocampal region2.46
1.77
Baz2bsAMYStriatum-like amygdalar nuclei1.27
0.85
Baz2bSTRStriatum1.6
1.2
Baz2bSTRdStriatum dorsal region1.73
1.39
Baz2bSTRvStriatum ventral region1.82
1.18
Baz2bTHThalamus3.72
4.04
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00617486 17 1764 1780 DVAIIELNENEENQVTR Peptide Atlas

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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