AutismKB 2.0

Annotation Detail for CBFA2T3


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Basic Information Top
Gene Symbol:CBFA2T3 ( ETO2,MTG16,MTGR2,ZMYND4 )
Gene Full Name: core-binding factor, runt domain, alpha subunit 2; translocated to, 3
Band: 16q24.3
Quick LinksEntrez ID:863; OMIM: 603870; Uniprot ID:MTG16_HUMAN; ENSEMBL ID: ENSG00000129993; HGNC ID: 1537
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 
blastocyst0 / 623190 
fetus16 / 56401228
neonate0 / 310970 
infant0 / 236200 
juvenile4 / 5555671
adult24 / 193912112
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor4 / 26384515
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia6 / 9584262
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma9 / 71755125
non-neoplasia0 / 972500 
normal51 / 336030715
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
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 
ascites1 / 4001524
bladder0 / 297570 
blood4 / 12347832
bone0 / 716550 
bone marrow3 / 4880161
brain12 / 110098910
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye6 / 21105428
heart0 / 896260 
intestine2 / 2344728
kidney1 / 2117774
larynx0 / 241450 
liver6 / 20774328
lung1 / 3369742
lymph6 / 44270135
lymph node3 / 9161032
mammary gland1 / 1532716
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary1 / 1020519
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen2 / 5395237
stomach0 / 966190 
testis6 / 33044218
thymus5 / 8113161
thyroid0 / 474730 
tonsil2 / 16999117
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208056_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.5
Adipocyte3.85
AdrenalCortex4.3
Adrenalgland3.4
Amygdala5.15
Appendix4.1
AtrioventricularNode3.2
BDCA4+_DentriticCells438.85
Bonemarrow4.15
BronchialEpithelialCells3.85
CD105+_Endothelial37.1
CD14+_Monocytes34.85
CD19+_BCells(neg._sel.)71.15
CD33+_Myeloid46.5
CD34+305.15
CD4+_Tcells4.35
CD56+_NKCells4.8
CD71+_EarlyErythroid4.7
CD8+_Tcells3.8
CardiacMyocytes5.5
Caudatenucleus3.55
Cerebellum3.45
CerebellumPeduncles5
CiliaryGanglion2.9
CingulateCortex4.1
Colorectaladenocarcinoma3.95
DorsalRootGanglion3.15
FetalThyroid3.9
Fetalbrain4
Fetalliver3.45
Fetallung3.2
GlobusPallidus2.95
Heart7.5
Hypothalamus4.35
Kidney3.3
Leukemia_chronicMyelogenousK-56210.1
Leukemia_promyelocytic-HL-603.4
Leukemialymphoblastic(MOLT-4)19.65
Liver5.65
Lung9.7
Lymphnode3.55
Lymphoma_burkitts(Daudi)5.15
Lymphoma_burkitts(Raji)5.8
MedullaOblongata3.55
OccipitalLobe3.6
OlfactoryBulb3.1
Ovary2.7
Pancreas3.3
PancreaticIslet4.2
ParietalLobe4.3
Pituitary4.5
Placenta4
Pons3.85
PrefrontalCortex5.25
Prostate7.35
Salivarygland3.25
SkeletalMuscle4.8
Skin3.4
SmoothMuscle4.45
Spinalcord4.1
SubthalamicNucleus3.7
SuperiorCervicalGanglion5.85
TemporalLobe3.65
Testis3.35
TestisGermCell3.25
TestisIntersitial3.35
TestisLeydigCell3.95
TestisSeminiferousTubule3.35
Thalamus4.05
Thymus88.95
Thyroid5
Tongue4
Tonsil3.9
Trachea3.35
TrigeminalGanglion4.75
Uterus3.15
UterusCorpus3.9
WholeBlood33.65
Wholebrain3.35
colon4.05
pineal_day6.6
pineal_night8.14
retina4.875
small_intestine3.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9830_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
Amygdala2.01 ± 1.01
Basal Forebrain1.45 ± 0.37
Basal Part of Pons1.22 ± 0.41
Cerebellar Cortex2.03 ± 0.76
Cerebellar Nuclei1.67 ± 0.66
Claustrum2.3 ± 0.95
Epithalamus1.24 ± 0.79
Frontal Lobe1.46 ± 0.78
Globus Pallidus1.5 ± 0.49
Hypothalamus1.68 ± 0.88
Insula1.4 ± 0.65
Limbic Lobe1.67 ± 0.83
Mesencephalon1.73 ± 0.76
Myelencephalon1.63 ± 0.73
Occipital Lobe1.59 ± 0.66
Parietal Lobe1.61 ± 0.85
Pontine Tegmentum1.63 ± 0.73
Striatum1.86 ± 0.93
Subthalamus1.76 ± 0.56
Temporal Lobe1.49 ± 0.71
Thalamus1.46 ± 0.65
White Matter1.39 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cbfa2t3hCBCerebellum1.62
1.98
Cbfa2t3hCTXCerebral cortex1.72
0.91
Cbfa2t3hHIPHippocampal region2.06
1.91
Cbfa2t3hHPFHippocampal formation1.76
1.25
Cbfa2t3hHYHypothalamus0.53
0.51
Cbfa2t3hLSXLateral septal complex0.33
0.14
Cbfa2t3hMBMidbrain0.52
0.43
Cbfa2t3hMYMedulla0.73
0.62
Cbfa2t3hOLFOlfactory bulb2.12
1.58
Cbfa2t3hPPons0.63
0.91
Cbfa2t3hPALPallidum3.05
3.87
Cbfa2t3hRHPRetrohippocampal region1.45
0.69
Cbfa2t3hsAMYStriatum-like amygdalar nuclei0.83
0.95
Cbfa2t3hSTRStriatum0.51
0.44
Cbfa2t3hSTRdStriatum dorsal region0.38
0.29
Cbfa2t3hSTRvStriatum ventral region0.7
0.66
Cbfa2t3hTHThalamus0.92
1
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
MTG16_HUMAN_445 26 445 470 KGPAPAAARPRSSSAGPEGPQLDVPR PRIDE
PAp00072669 11 344 354 LEDIAMAHHFR 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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