AutismKB 2.0

Annotation Detail for GNAS


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Basic Information Top
Gene Symbol:GNAS ( AHO,C20orf45,GNAS1,GPSA,GSA,GSP,MGC33735,NESP,PHP1A,PHP1B,PHP1C,POH )
Gene Full Name: GNAS complex locus
Band: 20q13.32
Quick LinksEntrez ID:2778; OMIM: 139320; Uniprot ID:ALEX_HUMAN; ENSEMBL ID: ENSG00000087460,ENSG00000213705; HGNC ID: 4392
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 body57 / 70761805
blastocyst30 / 62319481
fetus327 / 564012579
neonate7 / 31097225
infant8 / 23620338
juvenile33 / 55556593
adult1914 / 1939121987
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor25 / 127941954
bladder carcinoma11 / 17475629
breast (mammary gland) tumor133 / 941781412
cervical tumor42 / 343661222
chondrosarcoma25 / 82823301
colorectal tumor103 / 114246901
esophageal tumor4 / 17290231
gastrointestinal tumor152 / 1193691273
germ cell tumor79 / 263845299
glioma78 / 106883729
head and neck tumor440 / 1363023228
kidney tumor42 / 68959609
leukemia50 / 95842521
liver tumor23 / 96359238
lung tumor106 / 1031271027
lymphoma39 / 71755543
non-neoplasia29 / 97250298
normal2180 / 3360307648
ovarian tumor62 / 76682808
pancreatic tumor439 / 1046164196
primitive neuroectodermal tumor of the CNS67 / 125680533
prostate cancer62 / 102680603
retinoblastoma43 / 46356927
skin tumor53 / 124949424
soft tissue/muscle tissue tumor46 / 125191367
uterine tumor127 / 902571407
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue6 / 13106457
adrenal gland43 / 331971295
ascites21 / 40015524
bladder13 / 29757436
blood55 / 123478445
bone64 / 71655893
bone marrow17 / 48801348
brain613 / 1100989556
cervix44 / 48171913
connective tissue32 / 149255214
ear14 / 16212863
embryonic tissue158 / 215722732
esophagus4 / 20209197
eye161 / 211054762
heart35 / 89626390
intestine146 / 234472622
kidney113 / 211777533
larynx106 / 241454390
liver56 / 207743269
lung185 / 336974549
lymph17 / 44270384
lymph node54 / 91610589
mammary gland166 / 1532711083
mouth87 / 670521297
muscle46 / 107715427
nerve22 / 157681395
ovary65 / 102051636
pancreas952 / 2148124431
parathyroid11 / 20539535
pharynx15 / 41328362
pituitary gland148 / 165858923
placenta131 / 280825466
prostate88 / 189345464
salivary gland3 / 20155148
skin82 / 210574389
spleen5 / 5395292
stomach122 / 966191262
testis115 / 330442348
thymus9 / 81131110
thyroid334 / 474737035
tonsil4 / 16999235
trachea3 / 5241357
umbilical cord7 / 13680511
uterus168 / 232878721
vascular6 / 51780115
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212273_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts4301.15
Adipocyte3058.55
AdrenalCortex2922.7
Adrenalgland2621.7
Amygdala8297.2
Appendix1469.2
AtrioventricularNode489.1
BDCA4+_DentriticCells5380.15
Bonemarrow1569.3
BronchialEpithelialCells2892.95
CD105+_Endothelial2629.65
CD14+_Monocytes3130.05
CD19+_BCells(neg._sel.)4258.95
CD33+_Myeloid3055.5
CD34+3463.35
CD4+_Tcells3238.15
CD56+_NKCells3645.5
CD71+_EarlyErythroid3785.75
CD8+_Tcells2333.6
CardiacMyocytes2780.75
Caudatenucleus1606.45
Cerebellum6210.9
CerebellumPeduncles7852.3
CiliaryGanglion992.65
CingulateCortex7115
Colorectaladenocarcinoma3838.3
DorsalRootGanglion1037.4
FetalThyroid9160.7
Fetalbrain6106.05
Fetalliver1818.95
Fetallung3434.95
GlobusPallidus5630.55
Heart4797.2
Hypothalamus11691.4
Kidney1212.55
Leukemia_chronicMyelogenousK-562819.25
Leukemia_promyelocytic-HL-601939.45
Leukemialymphoblastic(MOLT-4)4224.1
Liver1529.85
Lung3647.35
Lymphnode2433.8
Lymphoma_burkitts(Daudi)3268.25
Lymphoma_burkitts(Raji)4119.4
MedullaOblongata6537.6
OccipitalLobe6857.3
OlfactoryBulb2137.95
Ovary914
Pancreas1530.35
PancreaticIslet10290.65
ParietalLobe6778.1
Pituitary15493.1
Placenta2562.55
Pons4049.05
PrefrontalCortex9688
Prostate3818.4
Salivarygland3501.15
SkeletalMuscle3998.75
Skin771.35
SmoothMuscle3980.25
Spinalcord4112.1
SubthalamicNucleus8282.5
SuperiorCervicalGanglion635.55
TemporalLobe5794
Testis1136.4
TestisGermCell2396.55
TestisIntersitial1365.55
TestisLeydigCell1345.45
TestisSeminiferousTubule1126.25
Thalamus6440.95
Thymus3021.95
Thyroid9255.25
Tongue2456.75
Tonsil2512.65
Trachea3702.4
TrigeminalGanglion919.55
Uterus2659.6
UterusCorpus2410.7
WholeBlood3133.25
Wholebrain8647.1
colon1486.35
pineal_day8898.46
pineal_night9876.24
retina4328.425
small_intestine1575.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P53595
  • 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
Amygdala3.2 ± 1.03
Basal Forebrain3.13 ± 0.3
Basal Part of Pons1.57 ± 0.57
Cerebellar Cortex3.56 ± 0.53
Cerebellar Nuclei2.73 ± 0.85
Claustrum2.82 ± 1.14
Epithalamus2.82 ± 0.6
Frontal Lobe2.6 ± 1.02
Globus Pallidus2.37 ± 1.07
Hypothalamus4.27 ± 0.5
Insula3 ± 1.22
Limbic Lobe2.64 ± 0.85
Mesencephalon3.26 ± 1.43
Myelencephalon3.04 ± 1.08
Occipital Lobe3.17 ± 0.95
Parietal Lobe2.8 ± 1.03
Pontine Tegmentum3.24 ± 0.83
Striatum2.91 ± 1.02
Subthalamus1.92 ± 0.78
Temporal Lobe2.73 ± 0.96
Thalamus2.52 ± 0.91
White Matter3.64 ± 0.37
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
GnasCBCerebellum0
0
GnasCTXCerebral cortex0
0
GnasHIPHippocampal region0
0
GnasHPFHippocampal formation0
0
GnasHYHypothalamus0
0
GnasLSXLateral septal complex0
0
GnasMBMidbrain0
0
GnasMYMedulla0
0
GnasOLFOlfactory bulb0
0
GnasPPons50
50
GnasPALPallidum0
0
GnasRHPRetrohippocampal region0
0
GnassAMYStriatum-like amygdalar nuclei0
0
GnasSTRStriatum0
0
GnasSTRdStriatum dorsal region0
0
GnasSTRvStriatum ventral region0
0
GnasTHThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
GNAS2_HUMAN_187 13 187 199 QADYVPSDQDLLR PRIDE
PAp00007226 12 291 302 SKIEDYFPEFAR 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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