AutismKB 2.0

Annotation Detail for CBFA2T2


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Basic Information Top
Gene Symbol:CBFA2T2 ( DKFZp313F2116,EHT,MTGR1,ZMYND3,p85 )
Gene Full Name: core-binding factor, runt domain, alpha subunit 2; translocated to, 2
Band: 20q11.21-q11.22
Quick LinksEntrez ID:9139; OMIM: 603672; Uniprot ID:MTG8R_HUMAN; ENSEMBL ID: ENSG00000078699; HGNC ID: 1536
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 body7 / 7076198
blastocyst1 / 6231916
fetus68 / 564012120
neonate0 / 310970 
infant4 / 23620169
juvenile0 / 555560 
adult128 / 193912166
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) tumor4 / 9417842
cervical tumor2 / 3436658
chondrosarcoma3 / 8282336
colorectal tumor11 / 11424696
esophageal tumor1 / 1729057
gastrointestinal tumor16 / 119369134
germ cell tumor24 / 26384590
glioma13 / 106883121
head and neck tumor5 / 13630236
kidney tumor4 / 6895958
leukemia5 / 9584252
liver tumor0 / 963590 
lung tumor5 / 10312748
lymphoma0 / 717550 
non-neoplasia10 / 97250102
normal247 / 336030773
ovarian tumor11 / 76682143
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer5 / 10268048
retinoblastoma2 / 4635643
skin tumor2 / 12494916
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites3 / 4001574
bladder0 / 297570 
blood4 / 12347832
bone3 / 7165541
bone marrow0 / 488010 
brain81 / 110098973
cervix2 / 4817141
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus1 / 2020949
eye19 / 21105490
heart6 / 8962666
intestine14 / 23447259
kidney8 / 21177737
larynx2 / 2414582
liver4 / 20774319
lung34 / 336974100
lymph0 / 442700 
lymph node8 / 9161087
mammary gland4 / 15327126
mouth4 / 6705259
muscle1 / 1077159
nerve1 / 1576863
ovary11 / 102051107
pancreas21 / 21481297
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta12 / 28082542
prostate27 / 189345142
salivary gland0 / 201550 
skin8 / 21057437
spleen2 / 5395237
stomach14 / 96619144
testis13 / 33044239
thymus4 / 8113149
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus14 / 23287860
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209144_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.75
Adipocyte4.05
AdrenalCortex4.1
Adrenalgland3.3
Amygdala4.3
Appendix4
AtrioventricularNode3.05
BDCA4+_DentriticCells4.4
Bonemarrow3.9
BronchialEpithelialCells3.8
CD105+_Endothelial3.8
CD14+_Monocytes4.2
CD19+_BCells(neg._sel.)4.25
CD33+_Myeloid5
CD34+4.85
CD4+_Tcells5.15
CD56+_NKCells4.8
CD71+_EarlyErythroid3.65
CD8+_Tcells5.15
CardiacMyocytes4.75
Caudatenucleus4.65
Cerebellum3.9
CerebellumPeduncles7.55
CiliaryGanglion3.05
CingulateCortex4.4
Colorectaladenocarcinoma3.95
DorsalRootGanglion2.95
FetalThyroid3.85
Fetalbrain5
Fetalliver3.3
Fetallung3.3
GlobusPallidus2.85
Heart4.95
Hypothalamus4.4
Kidney3.2
Leukemia_chronicMyelogenousK-5623.55
Leukemia_promyelocytic-HL-603.4
Leukemialymphoblastic(MOLT-4)3.6
Liver5.15
Lung4.4
Lymphnode3.5
Lymphoma_burkitts(Daudi)5.3
Lymphoma_burkitts(Raji)5.4
MedullaOblongata3.7
OccipitalLobe3.8
OlfactoryBulb3.1
Ovary2.6
Pancreas3.2
PancreaticIslet4.2
ParietalLobe4.25
Pituitary6
Placenta4.1
Pons3.75
PrefrontalCortex5.05
Prostate4.9
Salivarygland3.1
SkeletalMuscle4.7
Skin3
SmoothMuscle4.3
Spinalcord4.25
SubthalamicNucleus3.7
SuperiorCervicalGanglion4.4
TemporalLobe4.25
Testis3.5
TestisGermCell3.35
TestisIntersitial3.3
TestisLeydigCell3.85
TestisSeminiferousTubule3.7
Thalamus4.25
Thymus3.1
Thyroid5.05
Tongue3.8
Tonsil3.85
Trachea3.7
TrigeminalGanglion3.95
Uterus3.25
UterusCorpus3.5
WholeBlood4.3
Wholebrain5.15
colon3.9
pineal_day4.92
pineal_night4.78
retina4.875
small_intestine3.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P918157
  • 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
Amygdala4.05 ± 0.53
Basal Forebrain4.12 ± 0.32
Basal Part of Pons3.99 ± 0.37
Cerebellar Cortex4.01 ± 0.57
Cerebellar Nuclei4.03 ± 0.44
Claustrum4.24 ± 0.77
Epithalamus3.63 ± 0.54
Frontal Lobe3.92 ± 0.49
Globus Pallidus4.54 ± 0.6
Hypothalamus3.68 ± 0.78
Insula3.91 ± 0.51
Limbic Lobe4.15 ± 0.55
Mesencephalon3.9 ± 0.59
Myelencephalon4.03 ± 0.61
Occipital Lobe4.15 ± 0.64
Parietal Lobe3.91 ± 0.64
Pontine Tegmentum4.02 ± 0.51
Striatum4.16 ± 0.7
Subthalamus3.53 ± 0.7
Temporal Lobe3.96 ± 0.57
Thalamus4.02 ± 0.54
White Matter4.37 ± 0.3
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cbfa2t2hCBCerebellum50.74
63.15
Cbfa2t2hCTXCerebral cortex100
100
Cbfa2t2hHIPHippocampal region74.34
100
Cbfa2t2hHPFHippocampal formation92.07
100
Cbfa2t2hHYHypothalamus57.87
48.41
Cbfa2t2hLSXLateral septal complex28
17.72
Cbfa2t2hMBMidbrain73.55
66.02
Cbfa2t2hMYMedulla70.57
78.32
Cbfa2t2hOLFOlfactory bulb93.87
96.1
Cbfa2t2hPPons61.82
67.22
Cbfa2t2hPALPallidum63.71
56.89
Cbfa2t2hRHPRetrohippocampal region100
100
Cbfa2t2hsAMYStriatum-like amygdalar nuclei86.74
70.42
Cbfa2t2hSTRStriatum80.45
60.52
Cbfa2t2hSTRdStriatum dorsal region89.32
67.61
Cbfa2t2hSTRvStriatum ventral region73.96
54.5
Cbfa2t2hTHThalamus76.15
69.05
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


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