AutismKB 2.0

Annotation Detail for TBC1D2B


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Basic Information Top
Gene Symbol:TBC1D2B ( FLJ20166,KIAA1055 )
Gene Full Name: TBC1 domain family, member 2B
Band: 15q24.3-q25.1
Quick LinksEntrez ID:23102; OMIM: NA; Uniprot ID:TBD2B_HUMAN; ENSEMBL ID: ENSG00000167202; HGNC ID: 29183
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
blastocyst2 / 6231932
fetus19 / 56401233
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult80 / 193912141
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor1 / 9417810
cervical tumor2 / 3436658
chondrosarcoma10 / 82823120
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor16 / 26384560
glioma4 / 10688337
head and neck tumor6 / 13630244
kidney tumor3 / 6895943
leukemia5 / 9584252
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma2 / 7175527
non-neoplasia4 / 9725041
normal125 / 336030737
ovarian tumor2 / 7668226
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer7 / 10268068
retinoblastoma0 / 463560 
skin tumor8 / 12494964
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites1 / 4001524
bladder3 / 29757100
blood5 / 12347840
bone2 / 7165527
bone marrow1 / 4880120
brain41 / 110098937
cervix2 / 4817141
connective tissue12 / 14925580
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye6 / 21105428
heart0 / 896260 
intestine10 / 23447242
kidney6 / 21177728
larynx1 / 2414541
liver0 / 2077430 
lung21 / 33697462
lymph1 / 4427022
lymph node5 / 9161054
mammary gland7 / 15327145
mouth7 / 67052104
muscle7 / 10771564
nerve0 / 157680 
ovary3 / 10205129
pancreas8 / 21481237
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta20 / 28082571
prostate12 / 18934563
salivary gland0 / 201550 
skin13 / 21057461
spleen1 / 5395218
stomach8 / 9661982
testis10 / 33044230
thymus24 / 81131295
thyroid1 / 4747321
tonsil1 / 1699958
trachea5 / 5241395
umbilical cord0 / 136800 
uterus8 / 23287834
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212796_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts32.65
Adipocyte40.85
AdrenalCortex18.25
Adrenalgland17.8
Amygdala12.5
Appendix16
AtrioventricularNode12.05
BDCA4+_DentriticCells21.1
Bonemarrow16.55
BronchialEpithelialCells14.8
CD105+_Endothelial12.85
CD14+_Monocytes22.6
CD19+_BCells(neg._sel.)7.7
CD33+_Myeloid27.7
CD34+23
CD4+_Tcells41.45
CD56+_NKCells13.7
CD71+_EarlyErythroid6.85
CD8+_Tcells32.75
CardiacMyocytes13.25
Caudatenucleus11.35
Cerebellum13
CerebellumPeduncles10.75
CiliaryGanglion11.2
CingulateCortex12.75
Colorectaladenocarcinoma26.8
DorsalRootGanglion11.8
FetalThyroid28.4
Fetalbrain10.6
Fetalliver13.15
Fetallung20
GlobusPallidus11.05
Heart12.55
Hypothalamus15.95
Kidney12.5
Leukemia_chronicMyelogenousK-56210.75
Leukemia_promyelocytic-HL-6013.5
Leukemialymphoblastic(MOLT-4)20.5
Liver25.65
Lung55.75
Lymphnode39.9
Lymphoma_burkitts(Daudi)19.65
Lymphoma_burkitts(Raji)74.8
MedullaOblongata9.8
OccipitalLobe10.55
OlfactoryBulb12.05
Ovary20
Pancreas14.35
PancreaticIslet17.5
ParietalLobe14.5
Pituitary17.75
Placenta61.45
Pons12.1
PrefrontalCortex18.45
Prostate39
Salivarygland13.75
SkeletalMuscle12.35
Skin11.25
SmoothMuscle25.95
Spinalcord16.2
SubthalamicNucleus13.25
SuperiorCervicalGanglion17.2
TemporalLobe13.75
Testis13
TestisGermCell12.65
TestisIntersitial12.9
TestisLeydigCell13.6
TestisSeminiferousTubule13.2
Thalamus13.25
Thymus57.3
Thyroid29.9
Tongue14.4
Tonsil15
Trachea12.6
TrigeminalGanglion15.2
Uterus68.35
UterusCorpus13.95
WholeBlood33.8
Wholebrain12.55
colon12.05
pineal_day15.7
pineal_night15.92
retina28.45
small_intestine14.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P396666
  • 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
Amygdala7.35 ± 0.2
Basal Forebrain7.64 ± 0.17
Basal Part of Pons7.09 ± 0.16
Cerebellar Cortex7.7 ± 0.22
Cerebellar Nuclei7.57 ± 0.19
Claustrum7.18 ± 0.18
Epithalamus7.5 ± 0.16
Frontal Lobe7.39 ± 0.27
Globus Pallidus7.71 ± 0.31
Hypothalamus7.44 ± 0.17
Insula7.36 ± 0.26
Limbic Lobe7.42 ± 0.34
Mesencephalon7.52 ± 0.35
Myelencephalon7.48 ± 0.33
Occipital Lobe7.66 ± 0.31
Parietal Lobe7.42 ± 0.24
Pontine Tegmentum7.49 ± 0.19
Striatum7.74 ± 0.39
Subthalamus7.52 ± 0.22
Temporal Lobe7.38 ± 0.2
Thalamus7.43 ± 0.3
White Matter6.99 ± 0.26
Mouse Brain ISH
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