AutismKB 2.0

Annotation Detail for TBX6


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Basic Information Top
Gene Symbol:TBX6 ( DFNB67 )
Gene Full Name: T-box 6
Band: 16p11.2
Quick LinksEntrez ID:6911; OMIM: 602427; Uniprot ID:TBX6_HUMAN; ENSEMBL ID: ENSG00000149922; HGNC ID: 11605
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 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult7 / 19391213
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 
chondrosarcoma2 / 8282324
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma2 / 7175527
non-neoplasia0 / 972500 
normal10 / 33603072
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS8 / 12568063
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 
blood1 / 1234788
bone2 / 7165527
bone marrow0 / 488010 
brain3 / 11009892
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine1 / 2344724
kidney0 / 2117770 
larynx2 / 2414582
liver0 / 2077430 
lung5 / 33697414
lymph2 / 4427045
lymph node0 / 916100 
mammary gland3 / 15327119
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach1 / 9661910
testis1 / 3304423
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: 207684_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.45
Adipocyte6.3
AdrenalCortex6.2
Adrenalgland4.7
Amygdala5.7
Appendix6.4
AtrioventricularNode5.35
BDCA4+_DentriticCells5.55
Bonemarrow6.1
BronchialEpithelialCells5.55
CD105+_Endothelial5.7
CD14+_Monocytes5.9
CD19+_BCells(neg._sel.)5.8
CD33+_Myeloid6.8
CD34+6.85
CD4+_Tcells6.2
CD56+_NKCells6.65
CD71+_EarlyErythroid6.15
CD8+_Tcells5.15
CardiacMyocytes8.3
Caudatenucleus5.05
Cerebellum4.55
CerebellumPeduncles6.55
CiliaryGanglion3.95
CingulateCortex6.85
Colorectaladenocarcinoma5.65
DorsalRootGanglion4.85
FetalThyroid5.6
Fetalbrain5.6
Fetalliver5.05
Fetallung4.65
GlobusPallidus4.2
Heart7.45
Hypothalamus5.75
Kidney4.75
Leukemia_chronicMyelogenousK-5625.1
Leukemia_promyelocytic-HL-605
Leukemialymphoblastic(MOLT-4)4.7
Liver7.8
Lung6.75
Lymphnode4.75
Lymphoma_burkitts(Daudi)8.5
Lymphoma_burkitts(Raji)7.85
MedullaOblongata5.1
OccipitalLobe5.05
OlfactoryBulb4.15
Ovary6.2
Pancreas5.3
PancreaticIslet6.25
ParietalLobe6.1
Pituitary6.8
Placenta5.6
Pons8.85
PrefrontalCortex6.7
Prostate6.4
Salivarygland4.45
SkeletalMuscle7.4
Skin4.3
SmoothMuscle6.4
Spinalcord6.8
SubthalamicNucleus5.4
SuperiorCervicalGanglion9.85
TemporalLobe6.45
Testis4.85
TestisGermCell4.5
TestisIntersitial4.85
TestisLeydigCell5.55
TestisSeminiferousTubule6.2
Thalamus6
Thymus4.3
Thyroid6.85
Tongue8.3
Tonsil5.85
Trachea4.75
TrigeminalGanglion6.25
Uterus4.5
UterusCorpus5.05
WholeBlood6.1
Wholebrain4.75
colon5.6
pineal_day6.92
pineal_night6.54
retina6.95
small_intestine5.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6633_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
Amygdala2.12 ± 1
Basal Forebrain1.66 ± 0.32
Basal Part of Pons1.42 ± 0.45
Cerebellar Cortex1.72 ± 0.73
Cerebellar Nuclei1.95 ± 0.65
Claustrum2.47 ± 0.9
Epithalamus1.52 ± 0.62
Frontal Lobe1.51 ± 0.65
Globus Pallidus2.23 ± 0.49
Hypothalamus1.77 ± 0.44
Insula1.51 ± 0.45
Limbic Lobe1.65 ± 0.59
Mesencephalon1.84 ± 0.67
Myelencephalon1.7 ± 0.66
Occipital Lobe1.73 ± 0.73
Parietal Lobe1.73 ± 0.74
Pontine Tegmentum1.65 ± 0.63
Striatum1.72 ± 0.61
Subthalamus1.79 ± 0.63
Temporal Lobe1.54 ± 0.57
Thalamus1.61 ± 0.61
White Matter2.07 ± 0.34
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Tbx6CBCerebellum2.61
3.18
Tbx6CTXCerebral cortex4.36
3.34
Tbx6HIPHippocampal region2.32
2.25
Tbx6HPFHippocampal formation1.99
1.75
Tbx6HYHypothalamus1.06
0.88
Tbx6LSXLateral septal complex0.92
0.58
Tbx6MBMidbrain1.04
1
Tbx6MYMedulla2.28
2.2
Tbx6OLFOlfactory bulb13.71
10.23
Tbx6PPons1.31
1.48
Tbx6PALPallidum1.65
1.7
Tbx6RHPRetrohippocampal region1.52
1.14
Tbx6sAMYStriatum-like amygdalar nuclei0.56
0.5
Tbx6STRStriatum2.44
1.93
Tbx6STRdStriatum dorsal region1.55
1.27
Tbx6STRvStriatum ventral region7.48
5.38
Tbx6THThalamus3.15
2.46
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
TBX6_HUMAN_88 11 88 98 LPGVSLSLENR PRIDE

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