AutismKB 2.0

Annotation Detail for TBC1D4


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Basic Information Top
Gene Symbol:TBC1D4 ( AS160,DKFZp779C0666 )
Gene Full Name: TBC1 domain family, member 4
Band: 13q22.2
Quick LinksEntrez ID:9882; OMIM: 612465; Uniprot ID:TBCD4_HUMAN; ENSEMBL ID: ENSG00000136111; HGNC ID: 19165
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 body5 / 7076170
blastocyst4 / 6231964
fetus22 / 56401239
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult64 / 193912133
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor1 / 3436629
chondrosarcoma4 / 8282348
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor13 / 26384549
glioma5 / 10688346
head and neck tumor3 / 13630222
kidney tumor1 / 6895914
leukemia4 / 9584241
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal123 / 336030736
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor3 / 12494924
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites1 / 4001524
bladder2 / 2975767
blood2 / 12347816
bone3 / 7165541
bone marrow2 / 4880140
brain20 / 110098918
cervix1 / 4817120
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue16 / 21572274
esophagus0 / 202090 
eye6 / 21105428
heart3 / 8962633
intestine10 / 23447242
kidney13 / 21177761
larynx0 / 241450 
liver3 / 20774314
lung12 / 33697435
lymph0 / 442700 
lymph node12 / 91610130
mammary gland7 / 15327145
mouth4 / 6705259
muscle11 / 107715102
nerve1 / 1576863
ovary1 / 1020519
pancreas7 / 21481232
parathyroid1 / 2053948
pharynx4 / 4132896
pituitary gland0 / 165850 
placenta12 / 28082542
prostate4 / 18934521
salivary gland1 / 2015549
skin3 / 21057414
spleen1 / 5395218
stomach2 / 9661920
testis9 / 33044227
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord0 / 136800 
uterus11 / 23287847
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203386_at
Cell line Expression level Expression bar
721_B_lymphoblasts33.45
Adipocyte41.05
AdrenalCortex88.9
Adrenalgland125.4
Amygdala17.85
Appendix18.6
AtrioventricularNode18.65
BDCA4+_DentriticCells258.9
Bonemarrow10.1
BronchialEpithelialCells15.1
CD105+_Endothelial19.2
CD14+_Monocytes27.35
CD19+_BCells(neg._sel.)14.05
CD33+_Myeloid30.7
CD34+19.3
CD4+_Tcells357.45
CD56+_NKCells14.6
CD71+_EarlyErythroid18.9
CD8+_Tcells181.35
CardiacMyocytes18.55
Caudatenucleus22.85
Cerebellum16.65
CerebellumPeduncles22.1
CiliaryGanglion29.65
CingulateCortex22.65
Colorectaladenocarcinoma27.55
DorsalRootGanglion14.85
FetalThyroid51.1
Fetalbrain24.2
Fetalliver14
Fetallung22.2
GlobusPallidus15.9
Heart13.55
Hypothalamus28.55
Kidney30.95
Leukemia_chronicMyelogenousK-56215.2
Leukemia_promyelocytic-HL-6017.45
Leukemialymphoblastic(MOLT-4)51.2
Liver10.2
Lung14.45
Lymphnode141.45
Lymphoma_burkitts(Daudi)18.25
Lymphoma_burkitts(Raji)8.65
MedullaOblongata23.85
OccipitalLobe22.3
OlfactoryBulb19.55
Ovary22.25
Pancreas30.15
PancreaticIslet27
ParietalLobe16.05
Pituitary23.05
Placenta19.2
Pons15
PrefrontalCortex30.85
Prostate53.6
Salivarygland50.8
SkeletalMuscle47.7
Skin28.95
SmoothMuscle14.5
Spinalcord30.95
SubthalamicNucleus16.7
SuperiorCervicalGanglion19.75
TemporalLobe19.5
Testis13.15
TestisGermCell12.2
TestisIntersitial11.85
TestisLeydigCell13.8
TestisSeminiferousTubule13.05
Thalamus42.8
Thymus14.75
Thyroid219.5
Tongue38.8
Tonsil60.7
Trachea19.75
TrigeminalGanglion26.1
Uterus28.25
UterusCorpus19.45
WholeBlood23.8
Wholebrain15.3
colon22.4
pineal_day20.12
pineal_night20.36
retina16.225
small_intestine27.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11053_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
Amygdala7 ± 0.39
Basal Forebrain7.02 ± 0.26
Basal Part of Pons7.56 ± 0.3
Cerebellar Cortex6.93 ± 0.46
Cerebellar Nuclei7.97 ± 0.44
Claustrum7.05 ± 0.5
Epithalamus6.96 ± 0.32
Frontal Lobe7.05 ± 0.41
Globus Pallidus7.35 ± 0.16
Hypothalamus6.67 ± 0.37
Insula6.81 ± 0.25
Limbic Lobe7.14 ± 0.39
Mesencephalon7.08 ± 0.41
Myelencephalon7.12 ± 0.41
Occipital Lobe7.52 ± 0.31
Parietal Lobe7.29 ± 0.41
Pontine Tegmentum7.16 ± 0.41
Striatum7.3 ± 0.34
Subthalamus7.58 ± 0.35
Temporal Lobe6.99 ± 0.37
Thalamus7.29 ± 0.35
White Matter6.48 ± 0.39
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00007750 26 528 553 THVHIGEGPSTISNSTIPENATSSGR Peptide Atlas
TBCD4_HUMAN_1213 8 1213 1220 QNMDLLEK 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


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