AutismKB 2.0

Annotation Detail for AMT


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Basic Information Top
Gene Symbol:AMT ( GCE,GCST,GCVT,NKH )
Gene Full Name: aminomethyltransferase
Band: 3p21.31
Quick LinksEntrez ID:275; OMIM: 238310; Uniprot ID:GCST_HUMAN; ENSEMBL ID: ENSG00000145020; HGNC ID: 473
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 body0 / 707610 
blastocyst2 / 6231932
fetus14 / 56401224
neonate1 / 3109732
infant0 / 236200 
juvenile2 / 5555635
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor11 / 26384541
glioma1 / 1068839
head and neck tumor3 / 13630222
kidney tumor1 / 6895914
leukemia3 / 9584231
liver tumor2 / 9635920
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal164 / 336030748
ovarian tumor0 / 766820 
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland7 / 33197210
ascites0 / 400150 
bladder1 / 2975733
blood2 / 12347816
bone1 / 7165513
bone marrow0 / 488010 
brain44 / 110098939
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye8 / 21105437
heart11 / 89626122
intestine22 / 23447293
kidney22 / 211777103
larynx2 / 2414582
liver7 / 20774333
lung8 / 33697423
lymph0 / 442700 
lymph node2 / 9161021
mammary gland9 / 15327158
mouth5 / 6705274
muscle2 / 10771518
nerve0 / 157680 
ovary1 / 1020519
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland3 / 16585180
placenta8 / 28082528
prostate3 / 18934515
salivary gland0 / 201550 
skin0 / 2105740 
spleen2 / 5395237
stomach6 / 9661962
testis8 / 33044224
thymus3 / 8113136
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord1 / 1368073
uterus11 / 23287847
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204294_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.3
Adipocyte13.3
AdrenalCortex17.3
Adrenalgland13.8
Amygdala10.55
Appendix12.85
AtrioventricularNode6.6
BDCA4+_DentriticCells24.55
Bonemarrow12.85
BronchialEpithelialCells14.7
CD105+_Endothelial24.95
CD14+_Monocytes7.7
CD19+_BCells(neg._sel.)28.7
CD33+_Myeloid19.35
CD34+100.15
CD4+_Tcells100.55
CD56+_NKCells21.15
CD71+_EarlyErythroid8.2
CD8+_Tcells70.8
CardiacMyocytes9.15
Caudatenucleus12.35
Cerebellum31.05
CerebellumPeduncles43.25
CiliaryGanglion8.95
CingulateCortex16.9
Colorectaladenocarcinoma8.55
DorsalRootGanglion7.35
FetalThyroid17.65
Fetalbrain14.15
Fetalliver45.9
Fetallung28.5
GlobusPallidus7.95
Heart59.6
Hypothalamus17.5
Kidney82.05
Leukemia_chronicMyelogenousK-56211.75
Leukemia_promyelocytic-HL-6010.95
Leukemialymphoblastic(MOLT-4)14.7
Liver283.4
Lung11.25
Lymphnode31.4
Lymphoma_burkitts(Daudi)15.5
Lymphoma_burkitts(Raji)16.75
MedullaOblongata13.6
OccipitalLobe10.9
OlfactoryBulb18.1
Ovary9
Pancreas17.8
PancreaticIslet25.6
ParietalLobe9.6
Pituitary41.8
Placenta8.95
Pons18
PrefrontalCortex28.65
Prostate22.8
Salivarygland20.05
SkeletalMuscle22.8
Skin7.4
SmoothMuscle8.6
Spinalcord23
SubthalamicNucleus10.3
SuperiorCervicalGanglion16.8
TemporalLobe14.2
Testis24.25
TestisGermCell19.3
TestisIntersitial9.2
TestisLeydigCell15.5
TestisSeminiferousTubule15.1
Thalamus13.25
Thymus12.4
Thyroid34.45
Tongue14.5
Tonsil10.5
Trachea11.6
TrigeminalGanglion12.05
Uterus33.4
UterusCorpus12.55
WholeBlood11.3
Wholebrain15.55
colon26
pineal_day88.26
pineal_night87
retina43.7
small_intestine31.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P174503
  • 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
Amygdala3.15 ± 0.79
Basal Forebrain3.14 ± 0.52
Basal Part of Pons3.09 ± 0.65
Cerebellar Cortex3.86 ± 0.5
Cerebellar Nuclei2.96 ± 0.63
Claustrum2.94 ± 0.72
Epithalamus3.7 ± 0.86
Frontal Lobe3.16 ± 0.67
Globus Pallidus3.08 ± 0.54
Hypothalamus2.97 ± 0.58
Insula3.05 ± 0.55
Limbic Lobe3.04 ± 0.69
Mesencephalon3.31 ± 0.73
Myelencephalon3.17 ± 0.66
Occipital Lobe3.3 ± 0.65
Parietal Lobe3.2 ± 0.75
Pontine Tegmentum3.3 ± 0.74
Striatum3.13 ± 0.7
Subthalamus2.93 ± 0.73
Temporal Lobe3.22 ± 0.68
Thalamus3.34 ± 0.64
White Matter2.46 ± 0.77
Mouse Brain ISH
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