AutismKB 2.0

Annotation Detail for TBC1D1


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Basic Information Top
Gene Symbol:TBC1D1 ( KIAA1108,TBC,TBC1 )
Gene Full Name: TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1
Band: 4p14
Quick LinksEntrez ID:23216; OMIM: 609850; Uniprot ID:TBCD1_HUMAN; ENSEMBL ID: ENSG00000065882; HGNC ID: 11578
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 body3 / 7076142
blastocyst7 / 62319112
fetus36 / 56401263
neonate0 / 310970 
infant0 / 236200 
juvenile6 / 55556107
adult167 / 193912186
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) tumor6 / 9417863
cervical tumor1 / 3436629
chondrosarcoma9 / 82823108
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor31 / 263845117
glioma3 / 10688328
head and neck tumor13 / 13630295
kidney tumor16 / 68959232
leukemia20 / 95842208
liver tumor4 / 9635941
lung tumor5 / 10312748
lymphoma35 / 71755487
non-neoplasia2 / 9725020
normal283 / 336030784
ovarian tumor3 / 7668239
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer5 / 10268048
retinoblastoma2 / 4635643
skin tumor4 / 12494932
soft tissue/muscle tissue tumor13 / 125191103
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood15 / 123478121
bone7 / 7165597
bone marrow5 / 48801102
brain44 / 110098939
cervix1 / 4817120
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue18 / 21572283
esophagus0 / 202090 
eye8 / 21105437
heart1 / 8962611
intestine21 / 23447289
kidney47 / 211777221
larynx2 / 2414582
liver7 / 20774333
lung20 / 33697459
lymph23 / 44270519
lymph node51 / 91610556
mammary gland7 / 15327145
mouth1 / 6705214
muscle12 / 107715111
nerve0 / 157680 
ovary1 / 1020519
pancreas19 / 21481288
parathyroid5 / 20539243
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta29 / 280825103
prostate8 / 18934542
salivary gland6 / 20155297
skin7 / 21057433
spleen6 / 53952111
stomach6 / 9661962
testis22 / 33044266
thymus6 / 8113173
thyroid5 / 47473105
tonsil2 / 16999117
trachea2 / 5241338
umbilical cord0 / 136800 
uterus34 / 232878145
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212350_at
Cell line Expression level Expression bar
721_B_lymphoblasts37.25
Adipocyte22.15
AdrenalCortex30.5
Adrenalgland22.5
Amygdala30.75
Appendix29.45
AtrioventricularNode21.3
BDCA4+_DentriticCells119.6
Bonemarrow58.75
BronchialEpithelialCells43.5
CD105+_Endothelial25.9
CD14+_Monocytes124.05
CD19+_BCells(neg._sel.)109.7
CD33+_Myeloid133.5
CD34+61.85
CD4+_Tcells26.55
CD56+_NKCells74.9
CD71+_EarlyErythroid23.5
CD8+_Tcells20
CardiacMyocytes37.2
Caudatenucleus25
Cerebellum24
CerebellumPeduncles33.6
CiliaryGanglion20.6
CingulateCortex26.65
Colorectaladenocarcinoma29.05
DorsalRootGanglion21.6
FetalThyroid49.45
Fetalbrain27.1
Fetalliver25.65
Fetallung33.85
GlobusPallidus19.8
Heart37.9
Hypothalamus29.3
Kidney73.9
Leukemia_chronicMyelogenousK-56226.4
Leukemia_promyelocytic-HL-6073.25
Leukemialymphoblastic(MOLT-4)86
Liver22.9
Lung46.35
Lymphnode37.05
Lymphoma_burkitts(Daudi)179.85
Lymphoma_burkitts(Raji)130.05
MedullaOblongata26.15
OccipitalLobe25.5
OlfactoryBulb22.85
Ovary24.25
Pancreas23.05
PancreaticIslet27.5
ParietalLobe30.5
Pituitary33.95
Placenta205.1
Pons27.7
PrefrontalCortex37.2
Prostate56.05
Salivarygland31.25
SkeletalMuscle59.35
Skin22.05
SmoothMuscle38.25
Spinalcord31.65
SubthalamicNucleus26.7
SuperiorCervicalGanglion33.2
TemporalLobe27.75
Testis100.75
TestisGermCell99.25
TestisIntersitial58.1
TestisLeydigCell62.75
TestisSeminiferousTubule58.3
Thalamus24.95
Thymus79.2
Thyroid148.45
Tongue27.35
Tonsil31.15
Trachea26.4
TrigeminalGanglion29
Uterus179.7
UterusCorpus94.65
WholeBlood75.55
Wholebrain19.5
colon30.25
pineal_day19.56
pineal_night17.8
retina48.3
small_intestine33.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P73023
  • 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
Amygdala7.94 ± 0.61
Basal Forebrain7.4 ± 0.32
Basal Part of Pons7.16 ± 0.31
Cerebellar Cortex7.13 ± 0.37
Cerebellar Nuclei7.42 ± 0.32
Claustrum7.49 ± 0.51
Epithalamus7.45 ± 0.42
Frontal Lobe7.41 ± 0.43
Globus Pallidus7.81 ± 0.19
Hypothalamus7.17 ± 0.32
Insula7.53 ± 0.29
Limbic Lobe7.8 ± 0.65
Mesencephalon7.38 ± 0.22
Myelencephalon7.53 ± 0.46
Occipital Lobe7.98 ± 0.5
Parietal Lobe7.62 ± 0.45
Pontine Tegmentum7.61 ± 0.51
Striatum7.57 ± 0.43
Subthalamus7.23 ± 0.13
Temporal Lobe7.44 ± 0.43
Thalamus7.32 ± 0.3
White Matter7.04 ± 0.55
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Tbc1d1CBCerebellum18.38
22.82
Tbc1d1CTXCerebral cortex17.67
12.78
Tbc1d1HIPHippocampal region20.83
32.08
Tbc1d1HPFHippocampal formation21.06
24.46
Tbc1d1HYHypothalamus5.58
3.91
Tbc1d1LSXLateral septal complex6.45
4.36
Tbc1d1MBMidbrain6.43
5.9
Tbc1d1MYMedulla24.62
27.75
Tbc1d1OLFOlfactory bulb22.33
16.81
Tbc1d1PPons9.75
9.6
Tbc1d1PALPallidum5.73
4.88
Tbc1d1RHPRetrohippocampal region22.28
16.75
Tbc1d1sAMYStriatum-like amygdalar nuclei8.39
5.55
Tbc1d1STRStriatum3.07
2.23
Tbc1d1STRdStriatum dorsal region2.18
1.78
Tbc1d1STRvStriatum ventral region1.6
0.97
Tbc1d1THThalamus7.35
6.96
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00040835 10 328 337 HVDHFGFICR 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


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