AutismKB 2.0

Annotation Detail for GAMT


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Basic Information Top
Gene Symbol:GAMT ( PIG2,TP53I2 )
Gene Full Name: guanidinoacetate N-methyltransferase
Band: 19p13.3
Quick LinksEntrez ID:2593; OMIM: 601240; Uniprot ID:GAMT_HUMAN; ENSEMBL ID: ENSG00000130005; HGNC ID: 4136
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 body4 / 7076156
blastocyst1 / 6231916
fetus32 / 56401256
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult69 / 193912135
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) tumor0 / 941780 
cervical tumor1 / 3436629
chondrosarcoma5 / 8282360
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor4 / 26384515
glioma4 / 10688337
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia3 / 9584231
liver tumor31 / 96359321
lung tumor4 / 10312738
lymphoma7 / 7175597
non-neoplasia1 / 9725010
normal128 / 336030738
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer3 / 10268029
retinoblastoma1 / 4635621
skin tumor18 / 124949144
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood5 / 12347840
bone3 / 7165541
bone marrow2 / 4880140
brain30 / 110098927
cervix1 / 4817120
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye8 / 21105437
heart9 / 89626100
intestine1 / 2344724
kidney4 / 21177718
larynx0 / 241450 
liver39 / 207743187
lung13 / 33697438
lymph7 / 44270158
lymph node1 / 9161010
mammary gland2 / 15327113
mouth2 / 6705229
muscle23 / 107715213
nerve0 / 157680 
ovary2 / 10205119
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate7 / 18934536
salivary gland0 / 201550 
skin22 / 210574104
spleen2 / 5395237
stomach1 / 9661910
testis2 / 3304426
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205354_at
Cell line Expression level Expression bar
721_B_lymphoblasts16.25
Adipocyte12.5
AdrenalCortex9.25
Adrenalgland8.4
Amygdala28.15
Appendix8.1
AtrioventricularNode6.9
BDCA4+_DentriticCells11.2
Bonemarrow17.05
BronchialEpithelialCells10.95
CD105+_Endothelial9.9
CD14+_Monocytes12.5
CD19+_BCells(neg._sel.)11.7
CD33+_Myeloid10.15
CD34+28.7
CD4+_Tcells14.1
CD56+_NKCells11.2
CD71+_EarlyErythroid10.75
CD8+_Tcells7.95
CardiacMyocytes19.85
Caudatenucleus45.7
Cerebellum10.5
CerebellumPeduncles32.15
CiliaryGanglion8.9
CingulateCortex11.5
Colorectaladenocarcinoma19.4
DorsalRootGanglion6.9
FetalThyroid17.2
Fetalbrain18.35
Fetalliver57.4
Fetallung33.45
GlobusPallidus9.45
Heart255.1
Hypothalamus17.7
Kidney87.15
Leukemia_chronicMyelogenousK-56218.05
Leukemia_promyelocytic-HL-608.65
Leukemialymphoblastic(MOLT-4)37.6
Liver1139.9
Lung41.1
Lymphnode9.1
Lymphoma_burkitts(Daudi)32.2
Lymphoma_burkitts(Raji)15.35
MedullaOblongata18.4
OccipitalLobe23.45
OlfactoryBulb28.6
Ovary7.25
Pancreas34.15
PancreaticIslet12.8
ParietalLobe28
Pituitary20.15
Placenta8.75
Pons9.2
PrefrontalCortex17.3
Prostate72.45
Salivarygland13.45
SkeletalMuscle244
Skin6.9
SmoothMuscle16.45
Spinalcord43.8
SubthalamicNucleus22.1
SuperiorCervicalGanglion9.2
TemporalLobe17.5
Testis26.9
TestisGermCell63.25
TestisIntersitial16.8
TestisLeydigCell40.8
TestisSeminiferousTubule36.2
Thalamus33.95
Thymus38
Thyroid78.7
Tongue56.05
Tonsil9.45
Trachea8.95
TrigeminalGanglion8.05
Uterus8
UterusCorpus7.1
WholeBlood10.45
Wholebrain50.55
colon9.05
pineal_day29.12
pineal_night22.96
retina25.575
small_intestine7.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P108143
  • 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
Amygdala9.2 ± 0.19
Basal Forebrain9.57 ± 0.21
Basal Part of Pons9.55 ± 0.37
Cerebellar Cortex9.14 ± 0.09
Cerebellar Nuclei9.62 ± 0.3
Claustrum9.76 ± 0.19
Epithalamus9.54 ± 0.12
Frontal Lobe9.44 ± 0.3
Globus Pallidus9.99 ± 0.13
Hypothalamus9.73 ± 0.17
Insula9.39 ± 0.18
Limbic Lobe9.32 ± 0.34
Mesencephalon9.47 ± 0.28
Myelencephalon9.45 ± 0.26
Occipital Lobe9.03 ± 0.24
Parietal Lobe9.34 ± 0.25
Pontine Tegmentum9.42 ± 0.28
Striatum9.51 ± 0.21
Subthalamus9.48 ± 0.24
Temporal Lobe9.43 ± 0.26
Thalamus9.48 ± 0.22
White Matter10.78 ± 0.15
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00008541 21 78 98 VQEAPIDEHWIIECNDGVFQR 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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