AutismKB 2.0

Annotation Detail for GGPS1


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Basic Information Top
Gene Symbol:GGPS1 ( GGPPS,GGPPS1 )
Gene Full Name: geranylgeranyl diphosphate synthase 1
Band: 1q42.3
Quick LinksEntrez ID:9453; OMIM: 606982; Uniprot ID:GGPPS_HUMAN; ENSEMBL ID: ENSG00000152904; HGNC ID: 4249
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
fetus59 / 564012104
neonate1 / 3109732
infant1 / 2362042
juvenile3 / 5555653
adult125 / 193912164
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma22 / 174751258
breast (mammary gland) tumor7 / 9417874
cervical tumor3 / 3436687
chondrosarcoma5 / 8282360
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor37 / 263845140
glioma6 / 10688356
head and neck tumor7 / 13630251
kidney tumor8 / 68959116
leukemia13 / 95842135
liver tumor5 / 9635951
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal246 / 336030773
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer17 / 102680165
retinoblastoma1 / 4635621
skin tumor6 / 12494948
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites2 / 4001549
bladder23 / 29757772
blood7 / 12347856
bone6 / 7165583
bone marrow9 / 48801184
brain114 / 1100989103
cervix3 / 4817162
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye8 / 21105437
heart6 / 8962666
intestine9 / 23447238
kidney23 / 211777108
larynx1 / 2414541
liver7 / 20774333
lung12 / 33697435
lymph0 / 442700 
lymph node5 / 9161054
mammary gland11 / 15327171
mouth7 / 67052104
muscle6 / 10771555
nerve1 / 1576863
ovary2 / 10205119
pancreas11 / 21481251
parathyroid6 / 20539292
pharynx9 / 41328217
pituitary gland5 / 16585301
placenta10 / 28082535
prostate25 / 189345132
salivary gland2 / 2015599
skin12 / 21057456
spleen4 / 5395274
stomach3 / 9661931
testis53 / 330442160
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus28 / 232878120
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202322_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts57.5
Adipocyte43.45
AdrenalCortex48.85
Adrenalgland35.2
Amygdala46.5
Appendix49.45
AtrioventricularNode37.8
BDCA4+_DentriticCells47.2
Bonemarrow42.6
BronchialEpithelialCells123.2
CD105+_Endothelial42.1
CD14+_Monocytes101.55
CD19+_BCells(neg._sel.)116.95
CD33+_Myeloid54.45
CD34+68.5
CD4+_Tcells105.45
CD56+_NKCells103.35
CD71+_EarlyErythroid26.45
CD8+_Tcells95.3
CardiacMyocytes28.55
Caudatenucleus44.9
Cerebellum35.55
CerebellumPeduncles41.8
CiliaryGanglion34.7
CingulateCortex49.05
Colorectaladenocarcinoma41.45
DorsalRootGanglion30.4
FetalThyroid51.4
Fetalbrain48.1
Fetalliver31.85
Fetallung33.35
GlobusPallidus40.4
Heart50.55
Hypothalamus66.8
Kidney33.3
Leukemia_chronicMyelogenousK-562111.85
Leukemia_promyelocytic-HL-6035.4
Leukemialymphoblastic(MOLT-4)46.75
Liver14.9
Lung16.5
Lymphnode37.65
Lymphoma_burkitts(Daudi)64.45
Lymphoma_burkitts(Raji)41.25
MedullaOblongata62.4
OccipitalLobe45.7
OlfactoryBulb35.7
Ovary29.65
Pancreas35.1
PancreaticIslet56.65
ParietalLobe47.3
Pituitary87.35
Placenta36.2
Pons48.35
PrefrontalCortex66.3
Prostate49.35
Salivarygland49.75
SkeletalMuscle47.75
Skin32.15
SmoothMuscle46.55
Spinalcord59.35
SubthalamicNucleus47.25
SuperiorCervicalGanglion60.85
TemporalLobe58.2
Testis66.05
TestisGermCell114.7
TestisIntersitial94.8
TestisLeydigCell118.9
TestisSeminiferousTubule104.25
Thalamus53.3
Thymus26.9
Thyroid54.4
Tongue42.35
Tonsil45.1
Trachea38.2
TrigeminalGanglion55.35
Uterus31.2
UterusCorpus41.4
WholeBlood58.9
Wholebrain42.2
colon46.35
pineal_day116.7
pineal_night112.78
retina58.825
small_intestine37.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8129_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
Amygdala6.03 ± 0.33
Basal Forebrain5.97 ± 0.18
Basal Part of Pons5.87 ± 0.29
Cerebellar Cortex5.97 ± 0.3
Cerebellar Nuclei6.01 ± 0.29
Claustrum6.16 ± 0.29
Epithalamus5.89 ± 0.45
Frontal Lobe6.01 ± 0.31
Globus Pallidus6.01 ± 0.38
Hypothalamus6.01 ± 0.2
Insula5.92 ± 0.35
Limbic Lobe6.06 ± 0.32
Mesencephalon5.94 ± 0.36
Myelencephalon5.94 ± 0.35
Occipital Lobe6.06 ± 0.31
Parietal Lobe6.04 ± 0.29
Pontine Tegmentum6.06 ± 0.34
Striatum6.04 ± 0.34
Subthalamus5.98 ± 0.59
Temporal Lobe5.97 ± 0.3
Thalamus5.91 ± 0.32
White Matter6.37 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ggps1CBCerebellum2.31
2.11
Ggps1CTXCerebral cortex0.92
1.09
Ggps1HIPHippocampal region0.39
0.52
Ggps1HPFHippocampal formation0.41
0.48
Ggps1HYHypothalamus0.13
0.11
Ggps1LSXLateral septal complex0.17
0.14
Ggps1MBMidbrain0.42
0.49
Ggps1MYMedulla1.02
1.11
Ggps1OLFOlfactory bulb3.36
3.92
Ggps1PPons0.51
0.85
Ggps1PALPallidum0.14
0.1
Ggps1RHPRetrohippocampal region0.46
0.35
Ggps1sAMYStriatum-like amygdalar nuclei0.09
0.12
Ggps1STRStriatum0.13
0.18
Ggps1STRdStriatum dorsal region0.17
0.23
Ggps1STRvStriatum ventral region0.05
0.1
Ggps1THThalamus0.39
0.74
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
GGPPS_HUMAN_1 10 1 10 MEKTQETVQR PRIDE
PAp00008832 16 246 261 YCVHYLEDVGSFEYTR 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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