AutismKB 2.0

Annotation Detail for GTF2A2


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Basic Information Top
Gene Symbol:GTF2A2 ( HsT18745,TF2A2,TFIIA )
Gene Full Name: general transcription factor IIA, 2, 12kDa
Band: 15q22.2
Quick LinksEntrez ID:2958; OMIM: 600519; Uniprot ID:T2AG_HUMAN; ENSEMBL ID: ENSG00000140307; HGNC ID: 4647
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 body5 / 7076170
blastocyst3 / 6231948
fetus48 / 56401285
neonate0 / 310970 
infant2 / 2362084
juvenile2 / 5555635
adult103 / 193912153
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor6 / 9417863
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor5 / 26384518
glioma9 / 10688384
head and neck tumor1 / 1363027
kidney tumor4 / 6895958
leukemia5 / 9584252
liver tumor5 / 9635951
lung tumor8 / 10312777
lymphoma2 / 7175527
non-neoplasia2 / 9725020
normal200 / 336030759
ovarian tumor3 / 7668239
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer5 / 10268048
retinoblastoma3 / 4635664
skin tumor8 / 12494964
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites3 / 4001574
bladder1 / 2975733
blood5 / 12347840
bone3 / 7165541
bone marrow6 / 48801122
brain42 / 110098938
cervix1 / 4817120
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye12 / 21105456
heart11 / 89626122
intestine5 / 23447221
kidney11 / 21177751
larynx0 / 241450 
liver12 / 20774357
lung39 / 336974115
lymph1 / 4427022
lymph node4 / 9161043
mammary gland7 / 15327145
mouth1 / 6705214
muscle4 / 10771537
nerve0 / 157680 
ovary4 / 10205139
pancreas5 / 21481223
parathyroid7 / 20539340
pharynx2 / 4132848
pituitary gland4 / 16585241
placenta22 / 28082578
prostate7 / 18934536
salivary gland0 / 201550 
skin24 / 210574113
spleen3 / 5395255
stomach7 / 9661972
testis32 / 33044296
thymus2 / 8113124
thyroid0 / 474730 
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus11 / 23287847
vascular1 / 5178019
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202678_at
Cell line Expression level Expression bar
721_B_lymphoblasts953.2
Adipocyte123
AdrenalCortex81.75
Adrenalgland153.8
Amygdala176.3
Appendix92.7
AtrioventricularNode32.5
BDCA4+_DentriticCells625.75
Bonemarrow116.65
BronchialEpithelialCells477.5
CD105+_Endothelial654.5
CD14+_Monocytes517.75
CD19+_BCells(neg._sel.)451.45
CD33+_Myeloid496.15
CD34+736.3
CD4+_Tcells206.25
CD56+_NKCells398.8
CD71+_EarlyErythroid701
CD8+_Tcells239.55
CardiacMyocytes313
Caudatenucleus96.65
Cerebellum125.15
CerebellumPeduncles122.2
CiliaryGanglion50.2
CingulateCortex85.15
Colorectaladenocarcinoma158.05
DorsalRootGanglion54.65
FetalThyroid113.6
Fetalbrain118.7
Fetalliver121.5
Fetallung93.95
GlobusPallidus59.4
Heart116.95
Hypothalamus239.5
Kidney101.75
Leukemia_chronicMyelogenousK-562315.45
Leukemia_promyelocytic-HL-60411.9
Leukemialymphoblastic(MOLT-4)241.75
Liver93.6
Lung150.65
Lymphnode109.3
Lymphoma_burkitts(Daudi)526.85
Lymphoma_burkitts(Raji)166.9
MedullaOblongata95.7
OccipitalLobe87.55
OlfactoryBulb120.3
Ovary70.25
Pancreas62.85
PancreaticIslet182.6
ParietalLobe91.1
Pituitary271.65
Placenta144.05
Pons92.25
PrefrontalCortex145.1
Prostate255.8
Salivarygland121.65
SkeletalMuscle74.15
Skin38.1
SmoothMuscle529.6
Spinalcord202.1
SubthalamicNucleus74.35
SuperiorCervicalGanglion100.15
TemporalLobe109
Testis3008.65
TestisGermCell1761.45
TestisIntersitial2407.95
TestisLeydigCell1453.2
TestisSeminiferousTubule1492.6
Thalamus114.85
Thymus244.75
Thyroid177.85
Tongue80.65
Tonsil130.3
Trachea169.9
TrigeminalGanglion52.15
Uterus124.6
UterusCorpus75.5
WholeBlood170.05
Wholebrain267.6
colon415.5
pineal_day831.9
pineal_night760.14
retina329.05
small_intestine294.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9546_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
Amygdala7.68 ± 0.34
Basal Forebrain8 ± 0.17
Basal Part of Pons8.08 ± 0.21
Cerebellar Cortex8.19 ± 0.25
Cerebellar Nuclei8.34 ± 0.31
Claustrum7.38 ± 0.46
Epithalamus8.17 ± 0.3
Frontal Lobe8.09 ± 0.28
Globus Pallidus8.39 ± 0.25
Hypothalamus8.4 ± 0.25
Insula7.91 ± 0.31
Limbic Lobe7.73 ± 0.42
Mesencephalon7.9 ± 0.39
Myelencephalon7.92 ± 0.4
Occipital Lobe7.57 ± 0.38
Parietal Lobe7.97 ± 0.31
Pontine Tegmentum8.06 ± 0.33
Striatum7.93 ± 0.36
Subthalamus8.28 ± 0.16
Temporal Lobe7.92 ± 0.32
Thalamus7.91 ± 0.26
White Matter8.95 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gtf2a2CBCerebellum1.34
2.32
Gtf2a2CTXCerebral cortex2.36
1.91
Gtf2a2HIPHippocampal region0.67
0.53
Gtf2a2HPFHippocampal formation1.51
2.08
Gtf2a2HYHypothalamus1.22
1.59
Gtf2a2LSXLateral septal complex0.26
0.18
Gtf2a2MBMidbrain0.6
1.68
Gtf2a2MYMedulla0.59
1.52
Gtf2a2OLFOlfactory bulb4.24
4.53
Gtf2a2PPons1.2
3.35
Gtf2a2PALPallidum0.45
0.71
Gtf2a2RHPRetrohippocampal region3.16
4.53
Gtf2a2sAMYStriatum-like amygdalar nuclei1.66
2.66
Gtf2a2STRStriatum0.65
0.63
Gtf2a2STRdStriatum dorsal region0.24
0.3
Gtf2a2STRvStriatum ventral region1.99
1.28
Gtf2a2THThalamus0.44
0.38
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00095821 16 67 82 FCDNVWTFVLNDVEFR 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