AutismKB 2.0

Annotation Detail for TBC1D22A


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Basic Information Top
Gene Symbol:TBC1D22A ( C22orf4,HSC79E021 )
Gene Full Name: TBC1 domain family, member 22A
Band: 22q13.31
Quick LinksEntrez ID:25771; OMIM: NA; Uniprot ID:TB22A_HUMAN; ENSEMBL ID: ENSG00000054611; HGNC ID: 1309
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 body2 / 7076128
blastocyst2 / 6231932
fetus29 / 56401251
neonate1 / 3109732
infant0 / 236200 
juvenile10 / 55556179
adult134 / 193912169
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 tumor3 / 3436687
chondrosarcoma8 / 8282396
colorectal tumor2 / 11424617
esophageal tumor3 / 17290173
gastrointestinal tumor9 / 11936975
germ cell tumor8 / 26384530
glioma12 / 106883112
head and neck tumor8 / 13630258
kidney tumor6 / 6895987
leukemia6 / 9584262
liver tumor8 / 9635983
lung tumor5 / 10312748
lymphoma15 / 71755209
non-neoplasia11 / 97250113
normal209 / 336030762
ovarian tumor4 / 7668252
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS21 / 125680167
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor15 / 124949120
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites8 / 40015199
bladder0 / 297570 
blood14 / 123478113
bone7 / 7165597
bone marrow1 / 4880120
brain64 / 110098958
cervix4 / 4817183
connective tissue15 / 149255100
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus3 / 20209148
eye14 / 21105466
heart0 / 896260 
intestine13 / 23447255
kidney31 / 211777146
larynx4 / 24145165
liver11 / 20774352
lung19 / 33697456
lymph0 / 442700 
lymph node12 / 91610130
mammary gland1 / 1532716
mouth3 / 6705244
muscle1 / 1077159
nerve0 / 157680 
ovary6 / 10205158
pancreas19 / 21481288
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta30 / 280825106
prostate9 / 18934547
salivary gland1 / 2015549
skin20 / 21057494
spleen2 / 5395237
stomach2 / 9661920
testis16 / 33044248
thymus10 / 81131123
thyroid0 / 474730 
tonsil2 / 16999117
trachea3 / 5241357
umbilical cord0 / 136800 
uterus7 / 23287830
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 33778_at
Cell line Expression level Expression bar
721_B_lymphoblasts29.75
Adipocyte8.9
AdrenalCortex11.1
Adrenalgland8.4
Amygdala11.1
Appendix9.95
AtrioventricularNode8.05
BDCA4+_DentriticCells25.25
Bonemarrow10.35
BronchialEpithelialCells20
CD105+_Endothelial23.95
CD14+_Monocytes20.6
CD19+_BCells(neg._sel.)63.8
CD33+_Myeloid27.5
CD34+16.1
CD4+_Tcells10.7
CD56+_NKCells59.15
CD71+_EarlyErythroid9.1
CD8+_Tcells11.4
CardiacMyocytes12.15
Caudatenucleus8.3
Cerebellum7
CerebellumPeduncles10.1
CiliaryGanglion7.1
CingulateCortex9.5
Colorectaladenocarcinoma9.9
DorsalRootGanglion7.75
FetalThyroid9.6
Fetalbrain8.95
Fetalliver8.5
Fetallung9.4
GlobusPallidus9
Heart17
Hypothalamus10.05
Kidney9
Leukemia_chronicMyelogenousK-5628.65
Leukemia_promyelocytic-HL-6011.4
Leukemialymphoblastic(MOLT-4)7.65
Liver27.35
Lung29.9
Lymphnode9.45
Lymphoma_burkitts(Daudi)11.8
Lymphoma_burkitts(Raji)34.55
MedullaOblongata7.15
OccipitalLobe7.75
OlfactoryBulb7.9
Ovary6
Pancreas7.9
PancreaticIslet12.45
ParietalLobe9.9
Pituitary11.6
Placenta14.1
Pons8.35
PrefrontalCortex10.95
Prostate12.65
Salivarygland7.75
SkeletalMuscle10.8
Skin10.65
SmoothMuscle11.85
Spinalcord9.8
SubthalamicNucleus8.75
SuperiorCervicalGanglion10.7
TemporalLobe8.35
Testis16.4
TestisGermCell7.65
TestisIntersitial8.3
TestisLeydigCell8.8
TestisSeminiferousTubule8.05
Thalamus9
Thymus14.7
Thyroid18.15
Tongue9.15
Tonsil9.7
Trachea8.25
TrigeminalGanglion9.5
Uterus8.45
UterusCorpus8.7
WholeBlood26.05
Wholebrain11.1
colon9.8
pineal_day12.74
pineal_night13.12
retina13.325
small_intestine9.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11092_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
Amygdala5.61 ± 0.32
Basal Forebrain5.69 ± 0.16
Basal Part of Pons5.45 ± 0.18
Cerebellar Cortex5.27 ± 0.15
Cerebellar Nuclei5.6 ± 0.29
Claustrum5.81 ± 0.33
Epithalamus5.6 ± 0.48
Frontal Lobe5.5 ± 0.34
Globus Pallidus6.16 ± 0.23
Hypothalamus5.35 ± 0.55
Insula5.42 ± 0.33
Limbic Lobe5.57 ± 0.38
Mesencephalon5.56 ± 0.37
Myelencephalon5.54 ± 0.33
Occipital Lobe5.58 ± 0.25
Parietal Lobe5.58 ± 0.33
Pontine Tegmentum5.55 ± 0.35
Striatum5.72 ± 0.31
Subthalamus5.37 ± 0.25
Temporal Lobe5.55 ± 0.3
Thalamus5.45 ± 0.26
White Matter6.43 ± 0.1
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Tbc1d22aCBCerebellum1.75
1.92
Tbc1d22aCTXCerebral cortex4.26
3.55
Tbc1d22aHIPHippocampal region12.24
12.9
Tbc1d22aHPFHippocampal formation9.28
8.91
Tbc1d22aHYHypothalamus1.04
0.79
Tbc1d22aLSXLateral septal complex0.49
0.88
Tbc1d22aMBMidbrain2.19
2.62
Tbc1d22aMYMedulla1.87
2.46
Tbc1d22aOLFOlfactory bulb6.36
5.63
Tbc1d22aPPons2.94
3.35
Tbc1d22aPALPallidum1.63
1.41
Tbc1d22aRHPRetrohippocampal region2.45
1.68
Tbc1d22asAMYStriatum-like amygdalar nuclei1.74
1.3
Tbc1d22aSTRStriatum1.17
0.97
Tbc1d22aSTRdStriatum dorsal region0.91
0.58
Tbc1d22aSTRvStriatum ventral region1.84
1.67
Tbc1d22aTHThalamus3.62
2.73
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00037977 22 143 164 SVSESHTSCPAESASDAAPLQR Peptide Atlas
TB22A_HUMAN_279 8 279 286 QIHIDIPR 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