AutismKB 2.0

Annotation Detail for TBC1D22B


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Basic Information Top
Gene Symbol:TBC1D22B ( C6orf197,DKFZp762J0110,FLJ20337,MGC125626,MGC125627,RP4-744I24.2,dJ744I24.2 )
Gene Full Name: TBC1 domain family, member 22B
Band: 6p21.2
Quick LinksEntrez ID:55633; OMIM: NA; Uniprot ID:TB22B_HUMAN; ENSEMBL ID: ENSG00000065491; HGNC ID: 21602
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 
blastocyst3 / 6231948
fetus34 / 56401260
neonate1 / 3109732
infant0 / 236200 
juvenile1 / 5555617
adult54 / 193912127
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor5 / 11424643
esophageal tumor1 / 1729057
gastrointestinal tumor1 / 1193698
germ cell tumor9 / 26384534
glioma2 / 10688318
head and neck tumor17 / 136302124
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor7 / 10312767
lymphoma8 / 71755111
non-neoplasia4 / 9725041
normal141 / 336030741
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites1 / 4001524
bladder0 / 297570 
blood3 / 12347824
bone2 / 7165527
bone marrow1 / 4880120
brain55 / 110098949
cervix1 / 4817120
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus1 / 2020949
eye9 / 21105442
heart0 / 896260 
intestine9 / 23447238
kidney1 / 2117774
larynx0 / 241450 
liver2 / 2077439
lung14 / 33697441
lymph4 / 4427090
lymph node4 / 9161043
mammary gland2 / 15327113
mouth16 / 67052238
muscle3 / 10771527
nerve0 / 157680 
ovary2 / 10205119
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate7 / 18934536
salivary gland0 / 201550 
skin4 / 21057418
spleen1 / 5395218
stomach1 / 9661910
testis21 / 33044263
thymus8 / 8113198
thyroid3 / 4747363
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord0 / 136800 
uterus7 / 23287830
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 216549_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.55
Adipocyte5.9
AdrenalCortex7.35
Adrenalgland5.4
Amygdala6.15
Appendix6.75
AtrioventricularNode5.5
BDCA4+_DentriticCells6.5
Bonemarrow6.6
BronchialEpithelialCells5.95
CD105+_Endothelial6.15
CD14+_Monocytes6.55
CD19+_BCells(neg._sel.)6.45
CD33+_Myeloid7.7
CD34+7.65
CD4+_Tcells6.5
CD56+_NKCells7.15
CD71+_EarlyErythroid34.85
CD8+_Tcells5.45
CardiacMyocytes9.35
Caudatenucleus5.5
Cerebellum4.95
CerebellumPeduncles7.25
CiliaryGanglion4.95
CingulateCortex6.35
Colorectaladenocarcinoma6.1
DorsalRootGanglion5.15
FetalThyroid5.95
Fetalbrain5.95
Fetalliver5.35
Fetallung4.75
GlobusPallidus4.6
Heart9
Hypothalamus6.4
Kidney5.25
Leukemia_chronicMyelogenousK-5625.45
Leukemia_promyelocytic-HL-605.4
Leukemialymphoblastic(MOLT-4)4.9
Liver8.9
Lung6.65
Lymphnode5.25
Lymphoma_burkitts(Daudi)8
Lymphoma_burkitts(Raji)9.1
MedullaOblongata5.45
OccipitalLobe5.45
OlfactoryBulb4.8
Ovary4.35
Pancreas5.05
PancreaticIslet6.55
ParietalLobe6.65
Pituitary7
Placenta6.25
Pons5.85
PrefrontalCortex7.25
Prostate7.1
Salivarygland5
SkeletalMuscle8.5
Skin5.25
SmoothMuscle6.9
Spinalcord6.55
SubthalamicNucleus5.7
SuperiorCervicalGanglion9.4
TemporalLobe5.7
Testis5.2
TestisGermCell4.9
TestisIntersitial5.1
TestisLeydigCell6.25
TestisSeminiferousTubule5.2
Thalamus6.3
Thymus4.75
Thyroid7.3
Tongue6.5
Tonsil6
Trachea5.1
TrigeminalGanglion6.95
Uterus4.85
UterusCorpus6
WholeBlood6.55
Wholebrain4.8
colon6.15
pineal_day7.48
pineal_night7.28
retina7.4
small_intestine5.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11325_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
Amygdala3.84 ± 0.59
Basal Forebrain3.22 ± 0.75
Basal Part of Pons3.5 ± 0.49
Cerebellar Cortex3.91 ± 0.52
Cerebellar Nuclei3.52 ± 0.38
Claustrum3.71 ± 0.8
Epithalamus3.38 ± 0.68
Frontal Lobe3.58 ± 0.53
Globus Pallidus3.6 ± 0.48
Hypothalamus3.41 ± 0.43
Insula3.8 ± 0.41
Limbic Lobe3.8 ± 0.55
Mesencephalon3.87 ± 0.54
Myelencephalon3.68 ± 0.52
Occipital Lobe4 ± 0.54
Parietal Lobe3.85 ± 0.5
Pontine Tegmentum3.71 ± 0.62
Striatum3.76 ± 0.67
Subthalamus3.33 ± 0.61
Temporal Lobe3.66 ± 0.55
Thalamus3.63 ± 0.51
White Matter3.72 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Tbc1d22bCBCerebellum83.78
100
Tbc1d22bCTXCerebral cortex100
87.99
Tbc1d22bHIPHippocampal region64.31
99.11
Tbc1d22bHPFHippocampal formation68.67
85
Tbc1d22bHYHypothalamus33.73
27.08
Tbc1d22bLSXLateral septal complex65.93
47.04
Tbc1d22bMBMidbrain41.73
37.43
Tbc1d22bMYMedulla50.57
50.35
Tbc1d22bOLFOlfactory bulb97.88
97.11
Tbc1d22bPPons40.71
38.84
Tbc1d22bPALPallidum50.51
44.39
Tbc1d22bRHPRetrohippocampal region77.14
67.17
Tbc1d22bsAMYStriatum-like amygdalar nuclei79.91
62.29
Tbc1d22bSTRStriatum59.39
43.56
Tbc1d22bSTRdStriatum dorsal region53.13
37.94
Tbc1d22bSTRvStriatum ventral region67.49
49.33
Tbc1d22bTHThalamus54.69
47.21
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


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