AutismKB 2.0

Annotation Detail for TBC1D5


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Basic Information Top
Gene Symbol:TBC1D5 ( KIAA0210 )
Gene Full Name: TBC1 domain family, member 5
Band: 3p24.3
Quick LinksEntrez ID:9779; OMIM: NA; Uniprot ID:TBCD5_HUMAN; ENSEMBL ID: ENSG00000131374; HGNC ID: 19166
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 body8 / 70761113
blastocyst3 / 6231948
fetus56 / 56401299
neonate4 / 31097128
infant1 / 2362042
juvenile5 / 5555689
adult139 / 193912171
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma12 / 82823144
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor11 / 11936992
germ cell tumor37 / 263845140
glioma5 / 10688346
head and neck tumor10 / 13630273
kidney tumor4 / 6895958
leukemia7 / 9584273
liver tumor5 / 9635951
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia14 / 97250143
normal263 / 336030778
ovarian tumor7 / 7668291
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS10 / 12568079
prostate cancer4 / 10268038
retinoblastoma1 / 4635621
skin tumor8 / 12494964
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites1 / 4001524
bladder1 / 2975733
blood8 / 12347864
bone7 / 7165597
bone marrow2 / 4880140
brain78 / 110098970
cervix0 / 481710 
connective tissue16 / 149255107
ear1 / 1621261
embryonic tissue14 / 21572264
esophagus0 / 202090 
eye8 / 21105437
heart9 / 89626100
intestine8 / 23447234
kidney14 / 21177766
larynx3 / 24145124
liver9 / 20774343
lung28 / 33697483
lymph0 / 442700 
lymph node17 / 91610185
mammary gland10 / 15327165
mouth8 / 67052119
muscle9 / 10771583
nerve1 / 1576863
ovary7 / 10205168
pancreas19 / 21481288
parathyroid5 / 20539243
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta12 / 28082542
prostate7 / 18934536
salivary gland0 / 201550 
skin21 / 21057499
spleen3 / 5395255
stomach11 / 96619113
testis38 / 330442114
thymus9 / 81131110
thyroid4 / 4747384
tonsil3 / 16999176
trachea8 / 52413152
umbilical cord0 / 136800 
uterus16 / 23287868
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201814_at
Cell line Expression level Expression bar
721_B_lymphoblasts182
Adipocyte72.05
AdrenalCortex48.85
Adrenalgland59.2
Amygdala125.8
Appendix33.5
AtrioventricularNode37.5
BDCA4+_DentriticCells177.15
Bonemarrow55.7
BronchialEpithelialCells53.8
CD105+_Endothelial278.05
CD14+_Monocytes152.6
CD19+_BCells(neg._sel.)332.15
CD33+_Myeloid314.7
CD34+273.95
CD4+_Tcells70.6
CD56+_NKCells246.1
CD71+_EarlyErythroid85.85
CD8+_Tcells62.1
CardiacMyocytes55.6
Caudatenucleus52.7
Cerebellum43.8
CerebellumPeduncles48.4
CiliaryGanglion26.45
CingulateCortex82.7
Colorectaladenocarcinoma54.45
DorsalRootGanglion40.75
FetalThyroid60.05
Fetalbrain57.55
Fetalliver48.95
Fetallung47.7
GlobusPallidus33.75
Heart48.85
Hypothalamus109.95
Kidney61.85
Leukemia_chronicMyelogenousK-56242.9
Leukemia_promyelocytic-HL-6051.5
Leukemialymphoblastic(MOLT-4)87.4
Liver52.15
Lung59.2
Lymphnode47.6
Lymphoma_burkitts(Daudi)85.95
Lymphoma_burkitts(Raji)64.2
MedullaOblongata49.95
OccipitalLobe63.3
OlfactoryBulb46.65
Ovary24
Pancreas27.15
PancreaticIslet47.9
ParietalLobe56.95
Pituitary54.2
Placenta53.85
Pons43.3
PrefrontalCortex150.35
Prostate66.35
Salivarygland37.5
SkeletalMuscle42.2
Skin25.25
SmoothMuscle55.1
Spinalcord133.45
SubthalamicNucleus37
SuperiorCervicalGanglion43.25
TemporalLobe45.6
Testis43.3
TestisGermCell46.1
TestisIntersitial35.85
TestisLeydigCell41.25
TestisSeminiferousTubule35
Thalamus65.15
Thymus36.75
Thyroid99.6
Tongue35.9
Tonsil51.55
Trachea39.95
TrigeminalGanglion31.7
Uterus45.55
UterusCorpus35.6
WholeBlood95.3
Wholebrain79.2
colon55.05
pineal_day69.42
pineal_night90.66
retina84.775
small_intestine56.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P355455
  • 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
Amygdala4.82 ± 0.66
Basal Forebrain5.14 ± 0.47
Basal Part of Pons5.18 ± 0.34
Cerebellar Cortex4.7 ± 0.41
Cerebellar Nuclei5.17 ± 0.4
Claustrum4.89 ± 0.68
Epithalamus5.18 ± 0.46
Frontal Lobe5 ± 0.5
Globus Pallidus5.36 ± 0.53
Hypothalamus4.5 ± 0.49
Insula4.87 ± 0.49
Limbic Lobe5.13 ± 0.6
Mesencephalon4.95 ± 0.47
Myelencephalon5.01 ± 0.5
Occipital Lobe5.19 ± 0.45
Parietal Lobe4.94 ± 0.51
Pontine Tegmentum5.03 ± 0.61
Striatum4.91 ± 0.57
Subthalamus5.05 ± 0.37
Temporal Lobe5.03 ± 0.39
Thalamus5.03 ± 0.45
White Matter6.06 ± 0.37
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Tbc1d5CBCerebellum8.01
9.41
Tbc1d5CTXCerebral cortex8.42
6.35
Tbc1d5HIPHippocampal region6.55
6.74
Tbc1d5HPFHippocampal formation5.88
5.39
Tbc1d5HYHypothalamus0.57
0.45
Tbc1d5LSXLateral septal complex1.3
0.91
Tbc1d5MBMidbrain2.91
3.04
Tbc1d5MYMedulla8.03
8.3
Tbc1d5OLFOlfactory bulb7.72
6.18
Tbc1d5PPons4.32
4.77
Tbc1d5PALPallidum1.34
1.01
Tbc1d5RHPRetrohippocampal region4.99
3.76
Tbc1d5sAMYStriatum-like amygdalar nuclei0.78
0.49
Tbc1d5STRStriatum1.95
1.48
Tbc1d5STRdStriatum dorsal region2.23
1.8
Tbc1d5STRvStriatum ventral region1.77
1.08
Tbc1d5THThalamus1.91
1.81
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00004255 26 582 607 KESEEELEAQISFLQGQLNDLDAMCK Peptide Atlas
TBCD5_HUMAN_170 14 170 183 TFPEMQFFQQENVR PRIDE
TBCD5_HUMAN_73 10 73 82 RQKGINGQLR 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