AutismKB 2.0

Annotation Detail for TFAP2B


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Basic Information Top
Gene Symbol:TFAP2B ( AP-2B,AP2-B,MGC21381 )
Gene Full Name: transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
Band: 6p12.3
Quick LinksEntrez ID:7021; OMIM: 601601; Uniprot ID:AP2B_HUMAN; ENSEMBL ID: ENSG00000008196; HGNC ID: 11743
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 body9 / 70761127
blastocyst0 / 623190 
fetus14 / 56401224
neonate0 / 310970 
infant0 / 236200 
juvenile9 / 55556161
adult32 / 193912116
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) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal67 / 336030719
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS11 / 12568087
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 
brain16 / 110098914
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue14 / 21572264
esophagus0 / 202090 
eye31 / 211054146
heart1 / 8962611
intestine0 / 2344720 
kidney5 / 21177723
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland7 / 15327145
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
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: 215686_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.95
Adipocyte5.75
AdrenalCortex7.45
Adrenalgland6.15
Amygdala5.45
Appendix7.75
AtrioventricularNode6.55
BDCA4+_DentriticCells6.35
Bonemarrow6.9
BronchialEpithelialCells5.65
CD105+_Endothelial5.8
CD14+_Monocytes8.35
CD19+_BCells(neg._sel.)6.05
CD33+_Myeloid7.2
CD34+7.05
CD4+_Tcells6.05
CD56+_NKCells6.9
CD71+_EarlyErythroid5.7
CD8+_Tcells5.4
CardiacMyocytes8.8
Caudatenucleus5.2
Cerebellum4.75
CerebellumPeduncles7.35
CiliaryGanglion7.55
CingulateCortex6.4
Colorectaladenocarcinoma5.5
DorsalRootGanglion5.6
FetalThyroid5.7
Fetalbrain5.45
Fetalliver5.25
Fetallung4.45
GlobusPallidus6.35
Heart7.95
Hypothalamus5.85
Kidney7.05
Leukemia_chronicMyelogenousK-5625.15
Leukemia_promyelocytic-HL-604.95
Leukemialymphoblastic(MOLT-4)4.5
Liver10.95
Lung6.15
Lymphnode4.7
Lymphoma_burkitts(Daudi)7.35
Lymphoma_burkitts(Raji)8.3
MedullaOblongata7.05
OccipitalLobe5.15
OlfactoryBulb4.6
Ovary3.8
Pancreas4.6
PancreaticIslet6.05
ParietalLobe6.85
Pituitary7.05
Placenta5.3
Pons7.8
PrefrontalCortex6.55
Prostate6.4
Salivarygland5.1
SkeletalMuscle24.8
Skin6.8
SmoothMuscle6.45
Spinalcord6.05
SubthalamicNucleus5.9
SuperiorCervicalGanglion11.35
TemporalLobe14.55
Testis5
TestisGermCell4.8
TestisIntersitial4.95
TestisLeydigCell11
TestisSeminiferousTubule13.85
Thalamus6.05
Thymus4.2
Thyroid6.8
Tongue6.3
Tonsil5.65
Trachea4.8
TrigeminalGanglion10.45
Uterus4.4
UterusCorpus8.9
WholeBlood6.05
Wholebrain4.45
colon5.75
pineal_day6.9
pineal_night6.74
retina7.15
small_intestine5.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15230_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
Amygdala2.21 ± 1.23
Basal Forebrain1.78 ± 0.4
Basal Part of Pons1.35 ± 0.34
Cerebellar Cortex1.58 ± 0.72
Cerebellar Nuclei2.02 ± 0.71
Claustrum2.63 ± 0.94
Epithalamus1.49 ± 0.7
Frontal Lobe1.56 ± 0.76
Globus Pallidus2.39 ± 0.62
Hypothalamus1.79 ± 0.77
Insula1.62 ± 0.53
Limbic Lobe1.66 ± 0.59
Mesencephalon1.92 ± 0.72
Myelencephalon1.72 ± 0.66
Occipital Lobe1.82 ± 0.78
Parietal Lobe1.73 ± 0.74
Pontine Tegmentum1.79 ± 0.74
Striatum1.83 ± 0.56
Subthalamus1.81 ± 0.68
Temporal Lobe1.56 ± 0.54
Thalamus1.67 ± 0.58
White Matter2.38 ± 0.45
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Tcfap2bCBCerebellum43.55
49.78
Tcfap2bCTXCerebral cortex15.74
12.76
Tcfap2bHIPHippocampal region5.42
5.65
Tcfap2bHPFHippocampal formation7.85
7.77
Tcfap2bHYHypothalamus3.11
3.91
Tcfap2bLSXLateral septal complex0.73
0.8
Tcfap2bMBMidbrain10.11
8.85
Tcfap2bMYMedulla10.31
10.56
Tcfap2bOLFOlfactory bulb23.4
22.23
Tcfap2bPPons2.42
2.78
Tcfap2bPALPallidum1.39
1.29
Tcfap2bRHPRetrohippocampal region13.32
11.87
Tcfap2bsAMYStriatum-like amygdalar nuclei5.02
3.95
Tcfap2bSTRStriatum3.68
2.91
Tcfap2bSTRdStriatum dorsal region3.79
3.05
Tcfap2bSTRvStriatum ventral region3.82
2.8
Tcfap2bTHThalamus0.97
1
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp01054979 20 302 321 AANVTLLTSLVEGEAVHLAR 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