AutismKB 2.0

Annotation Detail for TBL2


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Basic Information Top
Gene Symbol:TBL2 ( DKFZp434N024,MGC134739,WBSCR13,WS-betaTRP )
Gene Full Name: transducin (beta)-like 2
Band: 7q11.23
Quick LinksEntrez ID:26608; OMIM: 605842; Uniprot ID:TBL2_HUMAN; ENSEMBL ID: ENSG00000106638; HGNC ID: 11586
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 body4 / 7076156
blastocyst1 / 6231916
fetus28 / 56401249
neonate8 / 31097257
infant9 / 23620381
juvenile12 / 55556215
adult129 / 193912166
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor9 / 9417895
cervical tumor2 / 3436658
chondrosarcoma10 / 82823120
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor10 / 11936983
germ cell tumor32 / 263845121
glioma11 / 106883102
head and neck tumor2 / 13630214
kidney tumor5 / 6895972
leukemia9 / 9584293
liver tumor10 / 96359103
lung tumor6 / 10312758
lymphoma0 / 717550 
non-neoplasia6 / 9725061
normal295 / 336030787
ovarian tumor9 / 76682117
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS26 / 125680206
prostate cancer4 / 10268038
retinoblastoma1 / 4635621
skin tumor8 / 12494964
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor11 / 90257121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland3 / 3319790
ascites4 / 4001599
bladder2 / 2975767
blood12 / 12347897
bone3 / 7165541
bone marrow3 / 4880161
brain95 / 110098986
cervix7 / 48171145
connective tissue16 / 149255107
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye12 / 21105456
heart7 / 8962678
intestine23 / 23447298
kidney17 / 21177780
larynx0 / 241450 
liver13 / 20774362
lung17 / 33697450
lymph0 / 442700 
lymph node1 / 9161010
mammary gland10 / 15327165
mouth3 / 6705244
muscle2 / 10771518
nerve0 / 157680 
ovary11 / 102051107
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta15 / 28082553
prostate13 / 18934568
salivary gland0 / 201550 
skin15 / 21057471
spleen6 / 53952111
stomach2 / 9661920
testis110 / 330442332
thymus5 / 8113161
thyroid1 / 4747321
tonsil2 / 16999117
trachea4 / 5241376
umbilical cord0 / 136800 
uterus18 / 23287877
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212685_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts183.35
Adipocyte43.2
AdrenalCortex47.3
Adrenalgland62.4
Amygdala50.7
Appendix53.05
AtrioventricularNode33.3
BDCA4+_DentriticCells83.7
Bonemarrow35.6
BronchialEpithelialCells43.3
CD105+_Endothelial42.55
CD14+_Monocytes70.1
CD19+_BCells(neg._sel.)48.2
CD33+_Myeloid50.3
CD34+97.55
CD4+_Tcells20.85
CD56+_NKCells42.3
CD71+_EarlyErythroid20.9
CD8+_Tcells20.8
CardiacMyocytes68.8
Caudatenucleus31.85
Cerebellum27.5
CerebellumPeduncles39.9
CiliaryGanglion31.6
CingulateCortex37.6
Colorectaladenocarcinoma125.95
DorsalRootGanglion32.2
FetalThyroid45.9
Fetalbrain37.6
Fetalliver38.25
Fetallung27.35
GlobusPallidus26.1
Heart46.15
Hypothalamus58.85
Kidney32.2
Leukemia_chronicMyelogenousK-56243.45
Leukemia_promyelocytic-HL-6024.9
Leukemialymphoblastic(MOLT-4)20.6
Liver181.7
Lung142.95
Lymphnode24.25
Lymphoma_burkitts(Daudi)53.65
Lymphoma_burkitts(Raji)60.75
MedullaOblongata42.95
OccipitalLobe30.05
OlfactoryBulb32.8
Ovary25.9
Pancreas35.9
PancreaticIslet70.2
ParietalLobe39.1
Pituitary62.45
Placenta193.4
Pons28.8
PrefrontalCortex45.1
Prostate145.8
Salivarygland29.35
SkeletalMuscle48.95
Skin30.95
SmoothMuscle73.45
Spinalcord41
SubthalamicNucleus27.65
SuperiorCervicalGanglion64.85
TemporalLobe34.6
Testis3846.5
TestisGermCell1536.4
TestisIntersitial1512.2
TestisLeydigCell769.9
TestisSeminiferousTubule824.7
Thalamus31.5
Thymus35.15
Thyroid159.45
Tongue39.25
Tonsil32.9
Trachea43.7
TrigeminalGanglion62.05
Uterus44.4
UterusCorpus38.55
WholeBlood37.9
Wholebrain48
colon125.65
pineal_day66.9
pineal_night57.42
retina125.55
small_intestine125.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13386_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
Amygdala2.44 ± 0.93
Basal Forebrain1.91 ± 0.43
Basal Part of Pons1.7 ± 0.32
Cerebellar Cortex2.34 ± 0.66
Cerebellar Nuclei2.44 ± 0.76
Claustrum2.56 ± 0.63
Epithalamus1.82 ± 0.79
Frontal Lobe1.97 ± 0.65
Globus Pallidus2.36 ± 0.49
Hypothalamus1.98 ± 0.82
Insula1.86 ± 0.57
Limbic Lobe2.12 ± 0.7
Mesencephalon2.23 ± 0.71
Myelencephalon2.12 ± 0.7
Occipital Lobe2.11 ± 0.69
Parietal Lobe1.96 ± 0.8
Pontine Tegmentum2.09 ± 0.69
Striatum1.86 ± 0.59
Subthalamus2.11 ± 0.65
Temporal Lobe2.17 ± 0.8
Thalamus1.99 ± 0.65
White Matter2.53 ± 0.5
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Tbl2CBCerebellum0.48
0.55
Tbl2CTXCerebral cortex0.8
0.7
Tbl2HIPHippocampal region0.49
0.64
Tbl2HPFHippocampal formation0.45
0.54
Tbl2HYHypothalamus0.25
0.28
Tbl2LSXLateral septal complex0.23
0.17
Tbl2MBMidbrain0.3
0.39
Tbl2MYMedulla0.51
0.82
Tbl2OLFOlfactory bulb1.09
0.76
Tbl2PPons0.68
0.81
Tbl2PALPallidum0.19
0.13
Tbl2RHPRetrohippocampal region0.41
0.41
Tbl2sAMYStriatum-like amygdalar nuclei0.49
0.4
Tbl2STRStriatum0.36
0.27
Tbl2STRdStriatum dorsal region0.37
0.25
Tbl2STRvStriatum ventral region0.35
0.31
Tbl2THThalamus0.2
0.17
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00002602 12 243 254 FVASCGFTPDVK 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