AutismKB 2.0

Annotation Detail for TBX4


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:TBX4 ( SPS )
Gene Full Name: T-box 4
Band: 17q23.2
Quick LinksEntrez ID:9496; OMIM: 601719; Uniprot ID:TBX4_HUMAN; ENSEMBL ID: ENSG00000121075; HGNC ID: 11603
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 body1 / 7076114
blastocyst0 / 623190 
fetus3 / 5640125
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult10 / 19391215
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal20 / 33603075
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
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 tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye0 / 2110540 
heart1 / 8962611
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta6 / 28082521
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis4 / 33044212
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: 220634_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.3
Adipocyte4.25
AdrenalCortex7.05
Adrenalgland3.6
Amygdala4.4
Appendix4.8
AtrioventricularNode3.35
BDCA4+_DentriticCells4.75
Bonemarrow4.4
BronchialEpithelialCells4.15
CD105+_Endothelial4.35
CD14+_Monocytes4.6
CD19+_BCells(neg._sel.)4.6
CD33+_Myeloid5.55
CD34+5.45
CD4+_Tcells4.65
CD56+_NKCells5.1
CD71+_EarlyErythroid5
CD8+_Tcells4.2
CardiacMyocytes5.6
Caudatenucleus3.85
Cerebellum3.45
CerebellumPeduncles5.3
CiliaryGanglion3.05
CingulateCortex4.45
Colorectaladenocarcinoma4.2
DorsalRootGanglion3.3
FetalThyroid4.2
Fetalbrain4.3
Fetalliver3.7
Fetallung3.6
GlobusPallidus3.2
Heart6.2
Hypothalamus4.45
Kidney3.65
Leukemia_chronicMyelogenousK-5623.9
Leukemia_promyelocytic-HL-603.8
Leukemialymphoblastic(MOLT-4)3.55
Liver5.7
Lung5.2
Lymphnode3.6
Lymphoma_burkitts(Daudi)5.5
Lymphoma_burkitts(Raji)6.25
MedullaOblongata3.9
OccipitalLobe3.9
OlfactoryBulb3.35
Ovary2.95
Pancreas3.4
PancreaticIslet4.6
ParietalLobe4.6
Pituitary5
Placenta4.45
Pons5.25
PrefrontalCortex5.35
Prostate5.05
Salivarygland3.45
SkeletalMuscle5.45
Skin3.3
SmoothMuscle4.9
Spinalcord4.8
SubthalamicNucleus3.9
SuperiorCervicalGanglion5.05
TemporalLobe8.35
Testis3.7
TestisGermCell3.4
TestisIntersitial3.6
TestisLeydigCell4.3
TestisSeminiferousTubule3.7
Thalamus4.7
Thymus3.3
Thyroid5.25
Tongue4.35
Tonsil4.2
Trachea3.55
TrigeminalGanglion4.6
Uterus3.45
UterusCorpus3.9
WholeBlood4.55
Wholebrain3.35
colon4.3
pineal_day5.28
pineal_night5.22
retina5.175
small_intestine4.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10997_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
Amygdala2.96 ± 0.97
Basal Forebrain2.48 ± 0.22
Basal Part of Pons2.25 ± 0.65
Cerebellar Cortex2.3 ± 0.78
Cerebellar Nuclei2.85 ± 0.88
Claustrum3.45 ± 0.87
Epithalamus2.21 ± 0.91
Frontal Lobe2.28 ± 0.62
Globus Pallidus2.99 ± 0.41
Hypothalamus2.5 ± 0.67
Insula2.17 ± 0.4
Limbic Lobe2.53 ± 0.67
Mesencephalon2.7 ± 0.73
Myelencephalon2.56 ± 0.71
Occipital Lobe2.71 ± 0.77
Parietal Lobe2.6 ± 0.73
Pontine Tegmentum2.53 ± 0.69
Striatum2.93 ± 0.8
Subthalamus2.63 ± 0.76
Temporal Lobe2.42 ± 0.67
Thalamus2.48 ± 0.61
White Matter2.83 ± 0.2
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Tbx4CBCerebellum20.41
27.74
Tbx4CTXCerebral cortex10.93
7.82
Tbx4HIPHippocampal region14.03
15.05
Tbx4HPFHippocampal formation14.8
14
Tbx4HYHypothalamus0.81
0.71
Tbx4LSXLateral septal complex1.45
1.12
Tbx4MBMidbrain1
1.22
Tbx4MYMedulla5.4
5.33
Tbx4OLFOlfactory bulb17.32
15.19
Tbx4PPons1.67
1.7
Tbx4PALPallidum2.11
1.81
Tbx4RHPRetrohippocampal region16.19
12.44
Tbx4sAMYStriatum-like amygdalar nuclei10.07
6.49
Tbx4STRStriatum4.05
2.81
Tbx4STRdStriatum dorsal region2.86
2.04
Tbx4STRvStriatum ventral region5.62
3.72
Tbx4THThalamus1.38
1.35
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