AutismKB 2.0

Annotation Detail for GTPBP6


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Basic Information Top
Gene Symbol:GTPBP6 ( FLJ20977,FLJ22809,FLJ56662,FLJ56805,FLJ90047,PGPL )
Gene Full Name: GTP binding protein 6 (putative)
Band: Xp22.33 and Yp11.32
Quick LinksEntrez ID:8225; OMIM: 300124; Uniprot ID:GTPB6_HUMAN; ENSEMBL ID: ENSG00000178605; HGNC ID: 30189
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
blastocyst2 / 6231932
fetus16 / 56401228
neonate0 / 310970 
infant1 / 2362042
juvenile1 / 5555617
adult67 / 193912134
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor2 / 9417821
cervical tumor1 / 3436629
chondrosarcoma4 / 8282348
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor5 / 26384518
glioma6 / 10688356
head and neck tumor4 / 13630229
kidney tumor3 / 6895943
leukemia3 / 9584231
liver tumor3 / 9635931
lung tumor19 / 103127184
lymphoma6 / 7175583
non-neoplasia5 / 9725051
normal93 / 336030727
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer6 / 10268058
retinoblastoma1 / 4635621
skin tumor1 / 1249498
soft tissue/muscle tissue tumor11 / 12519187
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites3 / 4001574
bladder1 / 2975733
blood4 / 12347832
bone3 / 7165541
bone marrow3 / 4880161
brain26 / 110098923
cervix3 / 4817162
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus0 / 202090 
eye4 / 21105418
heart1 / 8962611
intestine13 / 23447255
kidney10 / 21177747
larynx0 / 241450 
liver3 / 20774314
lung32 / 33697494
lymph4 / 4427090
lymph node3 / 9161032
mammary gland3 / 15327119
mouth0 / 670520 
muscle10 / 10771592
nerve1 / 1576863
ovary2 / 10205119
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta3 / 28082510
prostate7 / 18934536
salivary gland3 / 20155148
skin3 / 21057414
spleen0 / 539520 
stomach2 / 9661920
testis6 / 33044218
thymus4 / 8113149
thyroid2 / 4747342
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus8 / 23287834
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203314_at
Cell line Expression level Expression bar
721_B_lymphoblasts68.35
Adipocyte36.05
AdrenalCortex36.55
Adrenalgland30.95
Amygdala39.75
Appendix36.1
AtrioventricularNode26.2
BDCA4+_DentriticCells61.55
Bonemarrow34.3
BronchialEpithelialCells35.55
CD105+_Endothelial45.85
CD14+_Monocytes62
CD19+_BCells(neg._sel.)61.6
CD33+_Myeloid47.95
CD34+55.8
CD4+_Tcells68.3
CD56+_NKCells55.55
CD71+_EarlyErythroid33
CD8+_Tcells79.5
CardiacMyocytes44.85
Caudatenucleus32.1
Cerebellum29.4
CerebellumPeduncles40.95
CiliaryGanglion23.95
CingulateCortex36.95
Colorectaladenocarcinoma37.05
DorsalRootGanglion26.35
FetalThyroid51.3
Fetalbrain36.1
Fetalliver31.5
Fetallung31.05
GlobusPallidus25.2
Heart79.45
Hypothalamus40.45
Kidney31.3
Leukemia_chronicMyelogenousK-56227.1
Leukemia_promyelocytic-HL-6032.15
Leukemialymphoblastic(MOLT-4)35.8
Liver72.65
Lung63.75
Lymphnode31.65
Lymphoma_burkitts(Daudi)61.85
Lymphoma_burkitts(Raji)64.8
MedullaOblongata33.45
OccipitalLobe32.95
OlfactoryBulb35.45
Ovary22.45
Pancreas28.4
PancreaticIslet36.95
ParietalLobe37.65
Pituitary38.55
Placenta37.2
Pons34.4
PrefrontalCortex46.55
Prostate54.15
Salivarygland28.05
SkeletalMuscle52.6
Skin26.45
SmoothMuscle37
Spinalcord39
SubthalamicNucleus32.5
SuperiorCervicalGanglion39.8
TemporalLobe35.15
Testis31.1
TestisGermCell28.55
TestisIntersitial22.1
TestisLeydigCell33.2
TestisSeminiferousTubule31.1
Thalamus36.85
Thymus32.85
Thyroid79.4
Tongue37.45
Tonsil36.1
Trachea30.3
TrigeminalGanglion38.9
Uterus36.1
UterusCorpus31.95
WholeBlood41.85
Wholebrain34.2
colon36.55
pineal_day45
pineal_night43.28
retina43.8
small_intestine35.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P358381
  • 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
Amygdala6.52 ± 0.32
Basal Forebrain6.45 ± 0.42
Basal Part of Pons6.3 ± 0.35
Cerebellar Cortex6.18 ± 0.22
Cerebellar Nuclei6.26 ± 0.36
Claustrum6.8 ± 0.55
Epithalamus6.02 ± 0.26
Frontal Lobe6.22 ± 0.38
Globus Pallidus6.89 ± 0.18
Hypothalamus6.01 ± 0.53
Insula6.24 ± 0.43
Limbic Lobe6.49 ± 0.4
Mesencephalon6.42 ± 0.47
Myelencephalon6.43 ± 0.41
Occipital Lobe6.72 ± 0.41
Parietal Lobe6.38 ± 0.4
Pontine Tegmentum6.33 ± 0.39
Striatum6.82 ± 0.45
Subthalamus6.17 ± 0.38
Temporal Lobe6.32 ± 0.34
Thalamus6.38 ± 0.34
White Matter7.19 ± 0.45
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gtpbp6CBCerebellum1.92
2.37
Gtpbp6CTXCerebral cortex20
13.37
Gtpbp6HIPHippocampal region14.57
12.76
Gtpbp6HPFHippocampal formation16.34
13.73
Gtpbp6HYHypothalamus1.6
1.15
Gtpbp6LSXLateral septal complex2.99
2.07
Gtpbp6MBMidbrain2.72
2.44
Gtpbp6MYMedulla3.59
3.99
Gtpbp6OLFOlfactory bulb12.38
9.49
Gtpbp6PPons4.56
4.57
Gtpbp6PALPallidum1.36
1.06
Gtpbp6RHPRetrohippocampal region19.26
14.94
Gtpbp6sAMYStriatum-like amygdalar nuclei1.31
0.91
Gtpbp6STRStriatum1.66
1.11
Gtpbp6STRdStriatum dorsal region1.64
1.13
Gtpbp6STRvStriatum ventral region1.55
0.89
Gtpbp6THThalamus4.51
3.12
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